How can I cure my nail of anonychia congenita and get a fresh, good nail?
How can I cure my nail of anonychia congenita and get a fresh, good nail?
How can I find a physician with expertise in ALPS to see my adult son?
How can I find a physician with expertise in ALPS to see my adult son?
How can I find information on treatment for polyarteritis nodosa? Are there any dietary supplements or other alternative therapies that have been used to treat polyarteritis nodosa?
How can I find information on treatment for polyarteritis nodosa?
Are there any dietary supplements that have been used to treat polyarteritis nodosa?
Are there any other alternative therapies that have been used to treat polyarteritis nodosa?
How can I find other families with children with Blount disease?
How can I find other families with children with Blount disease?
How can I find out more about the status of research on inflammatory myfibroblastic tumor?
How can I find out more about the status of research on inflammatory myfibroblastic tumor?
How can I find research or treatment studies on trichotillomania? Our teenage daughter has suffered from the condition for many years and we have not found an effective treatment.
How can I find research studies on trichotillomania?
How can I find treatment studies on trichotillomania?
How can I learn about research involving myotonia congenita? Is gene therapy available for myotonia congenita?
How can I learn about research involving myotonia congenita?
Is gene therapy available for myotonia congenita?
How can I learn about research involving primary ciliary dyskinesia and Kartagener syndrome?
How can I learn about research involving primary ciliary dyskinesia?
How can I learn about research involving Kartagener syndrome?
How can I learn about research opportunities at the National Institutes of Health (NIH) that are enrolling children with Proteus syndrome?
How can I learn about research opportunities at the National Institutes of Health (NIH) that are enrolling children with Proteus syndrome?
How can I learn more about learning disabilities in women and girls with Turner syndrome?
How can I learn more about learning disabilities in women with Turner syndrome?
How can I learn more about learning disabilities in girls with Turner syndrome?
How can I learn more about the pull-through operation for Hirschsprung disease? I am considering this procedure for my son.
How can I learn more about the pull-through operation for Hirschsprung disease?
How can I meet other families with children with Russell-Silver syndrome? My granddaughter was recently diagnosed with this condition. I want to know how I can best support and help her as she grows.
How can I meet other families with children with Russell-Silver syndrome?
How can I obtain information about treatment options for familial idiopathic basal ganglia calcification (FIBGC)? Is there any research being done to find a treatment or cure for this condition?
How can I obtain information about treatment options for familial idiopathic basal ganglia calcification (FIBGC)?
Is there any research being done to find a treatment for this condition?
Is there any research being done to find a cure for this condition?
How can I treat fibromyalgia? How can I reduce the pain associated with this condition?
How can I treat fibromyalgia?
How can I reduce the pain associated with this condition?
How can one anticipate the progression of their disorder, as in how bad their condition is? How does one know what type of retinitis pigmentosa they have if their condition is inherited, developed in childhood, and their parents don't have it?
How can one anticipate the progression of their disorder, as in how bad their condition is?
How does one know what type of retinitis pigmentosa they have if their condition is inherited, developed in childhood, and their parents don't have it?
How can you detect Freeman Sheldon syndrome?
How can you detect Freeman Sheldon syndrome?
How common is congenital anosmia? Is there a cure or any treatment?
How common is congenital anosmia?
Is there a cure?
Is there any treatment?
How common is corpus callosum agenesis? How many people in the United States have this diagnosis? What is the average lifespan for people with this diagnosis?
How common is corpus callosum agenesis?
How many people in the United States have this diagnosis?
What is the average lifespan for people with this diagnosis?
How common is Kohler disease? I keep reading that it is rare but can't find stats on just how rare it is.
How common is Kohler disease?
How common is lactate dehydrogenase A deficiency and how might this condition be managed (for instance, should complex carbohydrates be avoided)?
How common is lactate dehydrogenase A deficiency?
How might this condition be managed?
How might this condition be managed (for instance, should complex carbohydrates be avoided)?
How common is Sertoli cell-only syndrome? Are there any studies regarding this condition? I was diagnosed recently and I can't find much information about it.
How common is Sertoli cell-only syndrome?
Are there any studies regarding this condition?
How common is spitz nevi in children near 7 years-old?
How common is spitz nevi in children near 7 years-old?
How common or rare is this condition? Can it be linked to prematurity as a cause?
How common or rare is this condition?
Can it be linked to prematurity as a cause?
How did Knobloch syndrome get its name? Is severe myopia one of the main symptoms?
How did Knobloch syndrome get its name?
Is severe myopia one of the main symptoms?
How do doctors test for erythromelalgia? I have flare ups on my hands, feet, and face.
How do doctors test for erythromelalgia?
How does androgen insensitivity syndrome affect gender identity?
How does androgen insensitivity syndrome affect gender identity?
How does a person contract FUMHD? How is a person tested for FUMHD? If it is genetic, can other children of the same parents be tested for it? How can doctors ensure they have not wrongly diagnosed someone that has FUMHD (in my loved one FUMHD was confused with chicken pox)? At what point does the disease stop being PLEVA and become FUMHD? What are the signs and symptoms that someone has FUMHD? How do doctors determine whether or not the treatments being administered for FUMD are working? At what point should Methotrexate be used to treat FUMHD? When should MRI's and X-rays be used to look for disease affecting the interior?
How does a person contract FUMHD?
How is a person tested for FUMHD?
If it is genetic, can other children of the same parents be tested for it?
How can doctors ensure they have not wrongly diagnosed someone that has FUMHD (in my loved one FUMHD was confused with chicken pox)?
At what point does the disease stop being PLEVA and become FUMHD?
What are the signs that someone has FUMHD?
What are the symptoms that someone has FUMHD?
How do doctors determine whether or not the treatments being administered for FUMD are working?
At what point should Methotrexate be used to treat FUMHD?
When should MRI's be used to look for disease affecting the interior?
When should X-rays be used to look for disease affecting the interior?
How does cardiofaciocutaneous syndrome affect an individual's livelihood?
How does cardiofaciocutaneous syndrome affect an individual's livelihood?
How does diet affect lichen sclerosus? Are there certain foods that should be avoided?
How does diet affect lichen sclerosus?
Are there certain foods that should be avoided?
How does Klippel Trenaunay syndrome (KTS) occur? How, if it is not inherited, does it come about? Which gene is associated with it?
How does Klippel Trenaunay syndrome (KTS) occur?
How, if it is not inherited, does it come about?
Which gene is associated with it?
How does one get tested for pityriasis lichenoides chronica?
How does one get tested for pityriasis lichenoides chronica?
How does Sturge-Weber syndrome affect adults? I'm a 43-year-old person who has this disorder and had my birthmark removed at age 4.
How does Sturge-Weber syndrome affect adults?
How does this syndrome begin in a lineage? Is the TP53 gene mutation a sudden and spontaneous mutation at conception? Does it have environmental causes? Is it a gradual generational erosion of gene integrity finally resulting in the full mutation that causes this syndrome? Are some TP53 genes mutated worse than others? We are trying to trace this through our family tree.
How does this syndrome begin in a lineage?
Is the TP53 gene mutation a sudden and spontaneous mutation at conception?
Does it have environmental causes?
Is it a gradual generational erosion of gene integrity finally resulting in the full mutation that causes this syndrome?
Are some TP53 genes mutated worse than others?
How do I get rid of MYH 9 related thrombocytopenia?
How do I get rid of MYH 9 related thrombocytopenia?
How do people inherit pseudoachondroplasia?
How do people inherit pseudoachondroplasia?
How is amyloidosis diagnosed in those with familial Mediterranean fever? How is the effectiveness of colchicine monitored?
How is amyloidosis diagnosed in those with familial Mediterranean fever?
How is the effectiveness of colchicine monitored?
How is diabetic mastopathy diagnosed and treated?
How is diabetic mastopathy diagnosed?
How is diabetic mastopathy treated?
How is fibrosing mediastinitis treated? How can I learn more about research?
How is fibrosing mediastinitis treated?
How can I learn more about research?
How is Fox-Fordyce disease treated? Are there over-the-counter drugs that will help? What can I do for maintanence?
How is Fox-Fordyce disease treated?
Are there over-the-counter drugs that will help?
What can I do for maintanence?
How is gene therapy being used to treat conditions like retinitis pigmentosa? Does gene therapy involve transplanting healthy human eye cells in the diseased retina? How can I learn more about clinical trials and research studies investigating new treatments for retinitis pigmentosa?
How is gene therapy being used to treat conditions like retinitis pigmentosa?
Does gene therapy involve transplanting healthy human eye cells in the diseased retina?
How can I learn more about clinical trials investigating new treatments for retinitis pigmentosa?
How can I learn more about research studies investigating new treatments for retinitis pigmentosa?
How is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) found in a woman's body? And also how rare is this disease?
How is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) found in a woman's body?
How rare is this disease?
How is N-acetylglutamate synthase deficiency inherited? Are there any new research studies enrolling people with N-acetylglutamate synthase deficiency? How can I get my loved one seen at the National Institutes of Health?
How is N-acetylglutamate synthase deficiency inherited?
Are there any new research studies enrolling people with N-acetylglutamate synthase deficiency?
How can I get my loved one seen at the National Institutes of Health?
How is neurofibromatosis inherited?
How is neurofibromatosis inherited?
How is optic neuritis diagnosed?
How is optic neuritis diagnosed?
How is orotic aciduria type I diagnosed? How is it treated?
How is orotic aciduria type I diagnosed?
How is it treated?
How is pseudotumor cerebri treated? What is the prognosis for patients with this condition?
How is pseudotumor cerebri treated?
What is the prognosis for patients with this condition?
How is Rotor syndrome diagnosed?
How is Rotor syndrome diagnosed?
How is the diagnosis of Shwachman-Diamond syndrome confirmed?
How is the diagnosis of Shwachman-Diamond syndrome confirmed?
How is trigeminal neuralgia treated? What is the long-term outlook for individuals with this condition?
How is trigeminal neuralgia treated?
What is the long-term outlook for individuals with this condition?
How is yellow nail syndrome treated? Can it be treated or not?
How is yellow nail syndrome treated?
Can it be treated or not?
How many cases of polyembryoma have been reported worldwide? What is the prognosis for polyembryoma? How might this condition be treated? What causes polyembryoma?
How many cases of polyembryoma have been reported worldwide?
What is the prognosis for polyembryoma?
How might this condition be treated?
What causes polyembryoma?
How many cases of schizencephaly have been reported in Florida, and worldwide? Will my child always have develomental delay, and will this get worse with every seizure? What is the prognosis for this condition?
How many cases of schizencephaly have been reported in Florida?
How many cases of schizencephaly have been reported in worldwide?
Will my child always have develomental delay?
Will this get worse with every seizure?
What is the prognosis for this condition?
How many individuals in the United States have been diagnosed with hereditary mucoepithelial dysplasia (HMD)? Is there any research on HMD in progress? Are there any HMD support groups?
How many individuals in the United States have been diagnosed with hereditary mucoepithelial dysplasia (HMD)?
Is there any research on HMD in progress?
Are there any HMD support groups?
How many people are affected by Alexander disease?
How many people are affected by Alexander disease?
How many people are affected by dysfibrinogenemia?
How many people are affected by dysfibrinogenemia?
How many people are diagnosed with myostatin-related muscle hypertrophy?
How many people are diagnosed with myostatin-related muscle hypertrophy?
How many people have acute promyelocytic leukemia?
How many people have acute promyelocytic leukemia?
How many people have been diagnosed with Christianson syndrome?
How many people have been diagnosed with Christianson syndrome?
How many people in the world have potassium aggravated myotonia?
How many people in the world have potassium aggravated myotonia?
How many types of pachyonychia congenita are there? How are they caused? Is the condition more likely to occur in certain groups of people? How many individuals have this condition and what is the mortality rate?
How many types of pachyonychia congenita are there?
How are they caused?
Is the condition more likely to occur in certain groups of people?
How many individuals have this condition?
What is the mortality rate?
How might ataxia telangiectasia affect a person's ability to move and speak?
How might ataxia telangiectasia affect a person's ability to move?
How might ataxia telangiectasia affect a person's ability to speak?
How might Brown-Sequard syndrome be treated?
How might Brown-Sequard syndrome be treated?
How might Brown syndrome be treated?
How might Brown syndrome be treated?
How might Crohn's disease be treated?
How might Crohn's disease be treated?
How might Eagle syndrome be treated?
How might Eagle syndrome be treated?
How might Maffucci syndrome be treated?
How might Maffucci syndrome be treated?
How might multicentric Castleman's disease be treated?
How might multicentric Castleman's disease be treated?
How might neuronal intranuclear inclusion disease affect a person over time?
How might neuronal intranuclear inclusion disease affect a person over time?
How might pain caused by transverse myelitis be treated?
How might pain caused by transverse myelitis be treated?
How might scleroderma be treated?
How might scleroderma be treated?
How might tyrosinemia type 2 be treated?
How might tyrosinemia type 2 be treated?
How quickly do desmoid tumors typically progress? Is five months a significant period of time with regard to the growth of such a tumor?
How quickly do desmoid tumors typically progress?
Is five months a significant period of time with regard to the growth of such a tumor?
How rare is adult-onset vitelliform macular dystrophy?
How rare is adult-onset vitelliform macular dystrophy?
How rare is autoimmune polyglandular syndrome type 1?
How rare is autoimmune polyglandular syndrome type 1?
How rare is Bannayan-Riley-Ruvalcaba syndrome? Can affected individuals die from this condition?
How rare is Bannayan-Riley-Ruvalcaba syndrome?
Can affected individuals die from this condition?
How rare is Barakat syndrome?
How rare is Barakat syndrome?
How rare is Eagle syndrome? Is surgery the best treatment? What kind of doctor would perform this surgery?
How rare is Eagle syndrome?
Is surgery the best treatment?
What kind of doctor would perform this surgery?
How rare is hypopituitarism?
How rare is hypopituitarism?
How rare is multiple endocrine neoplasia type 2A? How is this condition inherited?
How rare is multiple endocrine neoplasia type 2A?
How is this condition inherited?
How rare is Pelizaeus-Merzbacher disease?
How rare is Pelizaeus-Merzbacher disease?
How rare is retinochoroidal coloboma? What percentage of people with ocular coloboma have retinochoroidal?
How rare is retinochoroidal coloboma?
What percentage of people with ocular coloboma have retinochoroidal?
How rare is this disease? How many Americans are diagnosed with it?
How rare is this disease?
How many Americans are diagnosed with it?
How should patients with Birt Hogg Dube syndrome be monitored (i.e. for kidney tumors)?
How should patients with Birt Hogg Dube syndrome be monitored (i.e. for kidney tumors)?
How soon after birth can this be diagnosed? When is it known how severely an individual is affected? Is it possible to live a normal life?
How soon after birth can this be diagnosed?
When is it known how severely an individual is affected?
Is it possible to live a normal life?
How was hepatic encephalopathy discovered, and who first described it? Is there a chance of passing this condition along to my children?
How was hepatic encephalopathy discovered?
Who first described it?
Is there a chance of passing this condition along to my children?
Hypolipoproteinemia runs in my family. I can't find much information on this topic. I'd like to know if the symptoms I am experiencing are due to this condition. Who can I talk to?
I'd like to know if the symptoms I am experiencing are due to this condition.
Who can I talk to?
I am 23 years old. For 3 years I have been suffering from this critical problem. Please suggest how I might get rid of it so I can enjoy my life.
Please suggest how I might get rid of it so I can enjoy my life.
I am 26 years old and I have wandering spleen. I would like to know what is the best treatment option for my problem. Can I have a healthy pregnancy with my condition? What are the consequences of spleen removal surgery?
I would like to know what is the best treatment option for my problem.
Can I have a healthy pregnancy with my condition?
What are the consequences of spleen removal surgery?
I am 31 years old and my husband and I are considering starting a family. I was born with a bifid nose which was repaired as a child. I am wondering if you can explain the role of genetics and the bifid nose.
I am wondering if you can explain the role of genetics and the bifid nose.
I am 4 feet, 11 inches tall with many medical complications since childhood. How can I find out if I have dwarfism or any other condition?
How can I find out if I have dwarfism or any other condition?
I am 52 years old. I have had this illness for almost ten years. I had anterior neck surgery in 2008 and posterior neck surgery in 2009, with four titanium screws. May I ask you to help me or to guide me so I can treat this illness? Because of this illness I lost everything. I am now totally disabled.
May I ask you to help me or to guide me so I can treat this illness?
I am 58-years-old, and in the last year I have lost my fingerprints. When researching why this may have happened, I came across Naegeli syndrome and discovered that there were more symptoms that matched mine.Could you tell me how this condition is diagnosed? Is there a way to cure or halt the symptoms of the syndrome?
Could you tell me how this condition is diagnosed?
Is there a way to cure the symptoms of the syndrome?
Is there a way to halt the symptoms of the syndrome?
I am 6 months pregnant and was told that my baby has colpocephaly. I would like to learn more about this condition and what the prognosis is for a baby born with it.
I would like to learn more about this condition.
I would like to learn what the prognosis is for a baby born with it.
I am a 46 year old female who was born with Polands Syndrome. I was missing the upper ribs and the chest wall on my right side. As a result I am now facing multiple spinal problems and am looking for the correct treatment by the correct specialists. How do I go about finding spine specialists who have worked with this condition?
How do I go about finding spine specialists who have worked with this condition?
I am a black female and was recently diagnosed with pityriasis rotunda after a skin biopsy. There is not much information about this condition. The little information I found on the Internet is somewhat disturbing. I'm looking for more information and what should be the next step to follow.
I'm looking for more information.
I'm looking for what should be the next step to follow.
I am a carrier for recombinant chromosome 8 syndrome. Should my children have a blood test to see if they are also carriers?
Should my children have a blood test to see if they are also carriers?
I am a carrier of Duchenne muscular dystrophy. I am experiencing some symptoms which I believe go beyond the realm of aging. Upon reflection, other women in my family also experienced symptoms, including loss of feeling in the legs and heart failure. Can carrier females of Duchenne muscular dystrophy exhibit symptoms?
Can carrier females of Duchenne muscular dystrophy exhibit symptoms?
I am a dermatologist and I have a patient requesting patient-friendly information on this condition. Can you provide this and direct me to some appropriate resources?
Can you provide this and direct me to some appropriate resources?
I am affected by familial autosomal dominant periodic fever, as are two of my three children. Can you provide us with information about this condition?
Can you provide us with information about this condition?
I am a genetic counselor. We recently made a diagnosis of Sjogren-Larsson in a young child, and I am on the search for patient information for her family. I have found very little information so far (besides medical journal articles). Would you be able to point me to any other source of information (besides FIRST) where I can find information to pass along to this family? The family will be coming back early next week to discuss the diagnosis.
Would you be able to point me to any other source of information (besides FIRST) where I can find information to pass along to this family?
I am a healthcare provider for a 4-year-old girl with cytochrome C oxidase deficiency. How does this condition manifest? What is the life expectancy for a child with this diagnosis? She continues to gain new skills, but will she at some point show a regression in skills? She is diagnosed as having cortical visual impairment, though she continues to rely on her vision to gain information about her environment. Will she eventually go completely blind?
How does this condition manifest?
What is the life expectancy for a child with this diagnosis?
She continues to gain new skills, but will she at some point show a regression in skills?
Will she eventually go completely blind?
I am a layperson and many articles I have seen are geared toward those with medical backgrounds. Has it been determined that pentalogy of Cantrell is genetic? Is it X-linked? Does this mean that male children are at risk? And how does this impact future siblings?
Has it been determined that pentalogy of Cantrell is genetic?
Is it X-linked?
Does this mean that male children are at risk?
How does this impact future siblings?
I am an adult woman who has been recently diagnosed with Ménétrier disease. My symptoms seem to be worsening. I am seeking information about the symptoms, cause(s), prognosis, genetic association, and treatment. I am eager to hear from you and appreciate your assistance.
I am seeking information about the symptoms.
I am seeking information about the cause(s).
I am seeking information about the prognosis.
I am seeking information about the genetic association.
I am seeking information about the treatment.
I am a nurse, and I have a patient that presents with some of the classic signs of Rett syndrome. I want to locate a specialist in Rett syndrome genetics. Could your agency send me a list of practicing physicians and clinics with expertise in this area?
I want to locate a specialist in Rett syndrome genetics.
Could your agency send me a list of practicing physicians and clinics with expertise in this area?
I am a personal trainer working with a client who has HD. While I have seen progress with the exercises we are doing, I am looking for more information regarding the types of exercises that are found to be most effective or certain exercises that should be avoided.
While I have seen progress with the exercises we are doing, I am looking for more information regarding the types of exercises that are found to be most effective.
While I have seen progress with the exercises we are doing, I am looking for more information regarding certain exercises that should be avoided.
I am a physician who frequently sees patients with Becker muscular dystrophy. Can you provide me with patient-friendly information about this condition?
Can you provide me with patient-friendly information about this condition?
I am a school nurse and have a new student attending our school with this diagnosis. I would like to learn more about the disease and what we can do to make this student as comfortable as possible.
I would like to learn more about the disease.
I would like to learn what we can do to make this student as comfortable as possible.
I am a special education teacher. My new student is 5-years-old and is very impacted by this condition. Is his intelligence presumed to be typical? Also are his fungal infections contagious to other students and staff?
Is his intelligence presumed to be typical?
Are his fungal infections contagious to other students and staff?
I am a special educator working with an 18-year-old female who was recently diagnosed with Juvenile Huntington disease. We are attempting to develop an education and health safety plan and would appreciate any information you could provide.
We are attempting to develop an education plan and would appreciate any information you could provide.
We are attempting to develop an health safety plan and would appreciate any information you could provide.
I am a speech language pathologist with a child affected by Marshall-Smith syndrome on my caseload. Do the symptoms of this syndrome vary widely between patients? Is there any information regarding speech / language prognosis for these children?
Do the symptoms of this syndrome vary widely between patients?
Is there any information regarding speech prognosis for these children?
Is there any information regarding language prognosis for these children?
I am associated with a hospital in India as a trainee. Recently, we came across a case of Hereditary spastic paraplegia in a patient. We are unaware of the proper genetic testing to be carried out. Is a sample for genetic testing are required?
Is a sample for genetic testing are required?
I am a teacher and I have a student with FEVR. I would like to know if there are any strategies for me to implement to help him. He has undergone laser surgery and wears glasses. He is a second grader and I would like him to meet with success.
I would like to know if there are any strategies for me to implement to help him.
I am a therapist in need of additional information regarding Sotos syndrome. Are there any support groups with local state chapters? I have a client that has been diagnosed with Sotos syndrome and I would like to refer the parents to a support group.
Are there any support groups with local state chapters?
I am curious if this condition can or will effect hearing. Not necessarily hearing loss, but muffled sounds, feeling pressure, etc.
I am curious if this condition can or will effect hearing.
I am curious to know if there is a genetic link to Sheehan syndrome. My maternal grandmother hemorrhaged after her 5th child and ended up losing all of the hair on her body, less the hair on her head. My maternal aunt also hemorrhaged after her 4th child and she too lost all body hair less the hair on her head. Neither were diagnosed with Sheehan syndrome at that time.
I am curious to know if there is a genetic link to Sheehan syndrome.
I am going to be tutoring 2 brothers who have this condition. Information is relatively difficult to find. Is there any information you can email me in regards to symptoms/characteristics that relate to the education of these children? I am just looking for an overview that could help me in providing the best possible strategies for success.
Is there any information you can email me in regards to symptoms that relate to the education of these children?
Is there any information you can email me in regards to characteristics that relate to the education of these children?
I am just looking for an overview that could help me in providing the best possible strategies for success.
I am heterozygous for a factor V Leiden mutation. I was on oral contraceptives for 10 years before trying to get pregnant. After two miscarriages, I was tested and I found out that I had this condition. I saw where you discuss oral contraceptives; but I didn't know if an IUD such as Mirena may be safer to use than an oral contraceptives?
I saw where you discuss oral contraceptives; but I didn't know if an IUD such as Mirena may be safer to use than an oral contraceptives?
I am inquiring about information in regards to BOOP. My husband was recently diagnosed with this rare disease. I am very concerned because I do not understand what is happening to his body. We are dumbfounded on why and how he contracted this disease. Please forward me any info you have to share.
I am inquiring about information in regards to BOOP.
We are dumbfounded on why he contracted this disease.
We are dumbfounded on how he contracted this disease.
Please forward me any info you have to share.
I am interested in a good treatment for the condition. I was told that antibiotics are not necessarily good for this.
I am interested in a good treatment for the condition.
I am interested in finding out information related to dihydropyrimidine dehydrogenase (DPD) in children - I am not interested in the form that presents after exposure to the cancer drug 5-fluorouracil. My son is about to turn 5 years old and was diagnosed with DPD at 4 months. Are there any specific articles that speak about infants and children that suffer from the deficiency?
I am interested in finding out information related to dihydropyrimidine dehydrogenase (DPD) in children.
I am not interested in the form that presents after exposure to the cancer drug 5-fluorouracil.
Are there any specific articles that speak about infants that suffer from the deficiency?
Are there any specific articles that speak about children that suffer from the deficiency?
I am interested in learning about Tay syndrome. Can you help? I wish to know: What it is? When was it first described? What are the main symptoms? What are the treatments? What is the average life expectancy for sufferers?
I am interested in learning about Tay syndrome.
Can you help?
I wish to know: What it is?
When was it first described?
What are the main symptoms?
What are the treatments?
What is the average life expectancy for sufferers?
I am interested in learning more about Sheehan syndrome. What information can you provide?
I am interested in learning more about Sheehan syndrome.
What information can you provide?
I am interested in reading the most up-to-date research on the use of bisphosphonate therapy in treating adult PFD. What I have found in my search so far is that while it does seem to treat pain associated with PFD, it doesn't actually stop the progression of the condition. Also, I understand that long-term (over 3 years) use of bisphosphonates actually makes bones subject to fracture. So I was just looking for some answers.
I am interested in reading the most up-to-date research on the use of bisphosphonate therapy in treating adult PFD.
I am living in Israel, and my father has the rare disease familial amyloid polyneuropathy. What are the treatment options for this disease? Have people been successfully treated?
What are the treatment options for this disease?
Have people been successfully treated?
I am looking for any info about heavy metal toxicity, symptoms, treatment, outcomes. Especially combined toxicity (e.g., nickle and mercury). Also looking for diagnostic tools available for heavy metal in humans.
I am looking for any info about heavy metal toxicity, symptoms.
I am looking for any info about heavy metal toxicity, treatment.
I am looking for any info about heavy metal toxicity, outcomes.
Especially combined toxicity (e.g., nickle and mercury).
Looking for diagnostic tools available for heavy metal in humans.
I am looking for any information on Prinzmetal's variant angina, including clinical studies. The medicine they have me on just isn't working for me. What treatment options are available?
I am looking for any information on Prinzmetal's variant angina.
I am looking for any information on Prinzmetal's variant angina, including clinical studies.
What treatment options are available?
I am looking for any information on treatments and causes for burning mouth syndrome.
I am looking for any information on treatments for burning mouth syndrome.
I am looking for any information on causes for burning mouth syndrome.
I am looking for information about pseudocholinesterase deficiency in layman's terms for myself and others. Can you tell me more about this condition?
I am looking for information about pseudocholinesterase deficiency in layman's terms for myself and others.
Can you tell me more about this condition?
I am looking for information about this disease and also what types of treatments are available.
I am looking for information about this disease.
I am looking for information about also what types of treatments are available.
I am looking for information about Von-Hippel Lindau syndrome, including how it might be treated.
I am looking for information about Von-Hippel Lindau syndrome.
I am looking for information about Von-Hippel Lindau syndrome, including how it might be treated.
I am looking for more general information on granulomatous slack skin syndrome. How many total cases of this condition have been reported?
I am looking for more general information on granulomatous slack skin syndrome.
How many total cases of this condition have been reported?
I am looking for more information on wrinkly skin syndrome; its symptoms, body changes, treatment, what to expect, effects on different ages, and cases.
I am looking for more information on wrinkly skin syndrome; its symptoms.
I am looking for more information on wrinkly skin syndrome; its body changes.
I am looking for more information on wrinkly skin syndrome; its treatment.
I am looking for more information on wrinkly skin syndrome; its what to expect.
I am looking for more information on wrinkly skin syndrome; its effects on different ages.
I am looking for more information on wrinkly skin syndrome; its cases.
I am looking for recent information on ovarian carcinosarcoma and the chemotherapy regime that is most effective for treating this.
I am looking for recent information on ovarian carcinosarcoma.
I am looking for the chemotherapy regime that is most effective for treating this.
I am looking for treatment information for PKAN. My brother was diagnosed with it a little over a year ago. It started about age 3 with all the classic signs. He now is in very bad shape. I am looking for any help. He may start a clinical trial of deferiprone treatment if approved by the FDA.
I am looking for treatment information for PKAN.
I am looking for any help.
I am receiving genetic testing for spinocerebellar ataxia type 8 in approximately a week. How do I know if I inherited it from my mom or dad? Both are deceased and there is no family history of the disease. I am 62 yrs. old and first noticed symptoms approximately 4 years ago.
How do I know if I inherited it from my mom or dad?
I am researcher and I'm looking for more information about Gorham Stout disease.
I am researcher and I'm looking for more information about Gorham Stout disease.
I am researching the link between Greig cephalopolysyndactyly syndrome, hydrocephalus, and seizures. I am curious about the reason for the hydrocephalus: is it a blockage issue or a slow draining issue?
I am curious about the reason for the hydrocephalus: is it a blockage issue?
I am curious about the reason for the hydrocephalus: is it a slow draining issue?
I am severely affected with Klippel Feil syndrome and my symptoms are worsening with time. Are there any research studies that I could participate in? I am also concerned about the risk to my future offspring. How can I learn more about this risk?
Are there any research studies that I could participate in?
I am also concerned about the risk to my future offspring.
How can I learn more about this risk?
I am suffering from Kikuchi disease. What kind of treatment should I undergo and is taking painkillers the right treatment?
What kind of treatment should I undergo?
Is taking painkillers the right treatment?
I am the oldest person alive with Omenn Syndrome. I don't know much about it except what my grandmother has told me. She told me that it is an immune deficiency. Can you tell me more about it?
Can you tell me more about it?
I am the parent of a 10-year-old boy with Duchenne muscular dystrophy (DMD). We are seeking information on his specific mutation, he is missing 2 nucleotides on exon 44 causing a frameshift onto exon 45 resulting in mild DMD or severe Becker symptoms. We can't locate any other person with that specific mutation. We have used the Leiden Data Base and Duchenne Connect, and we have asked an expert at the University of Utah. We are trying to determine the potential course this disease will take. Can you offer any suggestions as to how we can find out if another person has the same mutation?
We are seeking information on his specific mutation, he is missing 2 nucleotides on exon 44 causing a frameshift onto exon 45 resulting in mild DMD or severe Becker symptoms.
We are trying to determine the potential course this disease will take.
Can you offer any suggestions as to how we can find out if another person has the same mutation?
I am the parent of a child with GSD type III. I would love to receive any information about the disease, treatments being done, research studies, etc. Thank you for your time.
I would love to receive any information about the disease.
I would love to receive any information about treatments being done.
I would love to receive any information about research studies.
I am trying to find a doctor in my area that knows something about pain management for my disease.
I am trying to find a doctor in my area that knows something about pain management for my disease.
I am trying to find information about transmission of hepatitis X. Is it found in Europe or just the USA?
I am trying to find information about transmission of hepatitis X.
Is it found in Europe or just the USA?
I am trying to find more information about osteomyelitis. Can you provide me with the information that I need?
I am trying to find more information about osteomyelitis.
Can you provide me with the information that I need?
I am trying to find out more information about how to treat my condition.
I am trying to find out more information about how to treat my condition.
I am trying to find out more information about teratomas with malignant transformation, specifically related to prognosis. I had a single mass removed with clean margins and no infiltration. Any studies that have been done about treatment options would be helpful. Also, are there any other published cases of teratoma and astrocytoma? I guess I am trying to find out if my type of teratoma would portend a better or worse prognosis than other types, especially given how fast mine developed.
I am trying to find out more information about teratomas with malignant transformation, specifically related to prognosis.
Any studies that have been done about treatment options would be helpful.
Are there any other published cases of teratoma?
Are there any other published cases of astrocytoma?
I guess I am trying to find out if my type of teratoma would portend a better or worse prognosis than other types, especially given how fast mine developed.
I am trying to find out more information on anaplastic oligoastrocytoma.
I am trying to find out more information on anaplastic oligoastrocytoma.
I am trying to find studies discussing the potential of genetic inheritance of desmoplastic small round cell tumor. My friend's brother is now suffering from desmoplastic small round cell tumor and she is concerned about her risks to develop this condition.
I am trying to find studies discussing the potential of genetic inheritance of desmoplastic small round cell tumor.
I am trying to research current information for my friend who has been diagnosed with Triple A syndrome. She is looking for understandable information about the disease and possible treatment options. Is there recent information about what might help to treat neuropathy? How can we reach out to other people affected by the condition? How can we find out about current research that is being done to find better treatment alternatives?
I am trying to research current information for my friend who has been diagnosed with Triple A syndrome.
She is looking for understandable information about the disease.
She is looking for understandable information about possible treatment options.
Is there recent information about what might help to treat neuropathy?
How can we reach out to other people affected by the condition?
How can we find out about current research that is being done to find better treatment alternatives?
I am wondering about Townes-Brock syndrome because I was born with this condition and I don't know anything about it. Can you provide me with all the information that you have on Townes-Brock syndrome?
Can you provide me with all the information that you have on Townes-Brock syndrome?
I am writing an English research paper on Tourette syndrome. Can Tourette syndrome be cured? What are the treatment options? Please provide any available information.
Can Tourette syndrome be cured?
What are the treatment options?
Please provide any available information.
I am writing to ask for some information on hyperprolinemia type 2. Do individuals with this condition have a shortened lifespan? Is there any treatment for people who have severe symptoms? Are there any clinical trials studying the use of vitamin B6?
I am writing to ask for some information on hyperprolinemia type 2.
Do individuals with this condition have a shortened lifespan?
Is there any treatment for people who have severe symptoms?
Are there any clinical trials studying the use of vitamin B6?
I believe I have hereditary neuralgic amyotrophy. Can this condition affect the legs? I am having an attack in my right leg which seems to be very similar to what I have had in my shoulders and arms for 20 years.
Can this condition affect the legs?
I believe I may have occipital horn syndrome. How can I be tested for this? Is it important, for personal or research purposes, that I get tested?
How can I be tested for this?
Is it important, for personal purposes, that I get tested?
Is it important, for research purposes, that I get tested?
I believe my daughter may have cerebrotendinous xanthomatosis. Can you provide me with more information on this condition?
Can you provide me with more information on this condition?
I believe that I may have Aase syndrome. Can you provide me with information about this condition?
Can you provide me with information about this condition?
I believe that I may have geographic tongue. Is there treatment for the condition? At what age do symptoms of the condition typically start? I have a family history of psoriasis. Is geographic tongue related to psoriasis? Are the two conditions genetic? Is genetic counseling appropriate for geographic tongue and psoriasis?
Is there treatment for the condition?
At what age do symptoms of the condition typically start?
Is geographic tongue related to psoriasis?
Are the two conditions genetic?
Is genetic counseling appropriate for geographic tongue?
Is genetic counseling appropriate for psoriasis?
I can not find any help in regards to this disease. Since I was diagnosed with this I have been left to deal with it myself and its getting to the point of no return. So any help in getting me pointed in the right direction would be helpful.
So any help in getting me pointed in the right direction would be helpful.
I carry a mutation in the SOX9 gene but I do not have any signs or symptoms of campomelic dysplasia. I have had several pregnancies; one resulted in a child with the condition who later passed away, two resulted in pregnancy termination because the fetuses were found to have the condition, and 2 resulted in miscarriages. I was told that the risk for each of my pregnancies to be affected with this condition was 50%. If this is the case, why does it seem like all of my pregnancies have been affected?
If this is the case, why does it seem like all of my pregnancies have been affected?
I developed a nonseminomatous germ cell tumor in my 20's. I've since been deemed cured, but wonder if my children are at an increased risk for developing this cancer.
I've since been deemed cured, but wonder if my children are at an increased risk for developing this cancer.
I developed patulous eustacian tube following gastric bypass surgery. Are there treatments for this condition?
Are there treatments for this condition?
I'd like to know all about Ehlers-Danlos syndrome progeroid type.
I'd like to know all about Ehlers-Danlos syndrome progeroid type.
I'd like to know as much as possible about Leigh syndrome. Could you also tell me what type of testing is available for the condition? I am particularly interested in learning more about genetic testing for the syndrome.
I'd like to know as much as possible about Leigh syndrome.
Could you also tell me what type of testing is available for the condition?
I am particularly interested in learning more about genetic testing for the syndrome.
I'd like to learn more about megalocytic interstitial nephritis with malakoplakia.
I'd like to learn more about megalocytic interstitial nephritis with malakoplakia.
I experienced a headache followed by left sided numbness. I believe my doctor said I had hemiplegic migraine. During these episodes the left side of my body will feel like tiny pinpricks and go completely numb. When it gets really bad it spreads over to my right side and i cannot operate my car. When this happens I do not always get headaches. Is there any information you can give me?
Is there any information you can give me?
If a child is the only one affected with perisylvian syndrome in his family, can the inheritance of the syndrome be determined? Would perisylvian syndrome in a male child come from the mother or the father, or both? Is genetic testing for this syndrome available?
If a child is the only one affected with perisylvian syndrome in his family, can the inheritance of the syndrome be determined?
Would perisylvian syndrome in a male child come from the mother or the father, or both?
Is genetic testing for this syndrome available?
If a couple has a child with Krabbe leukodystrophy, what is the likelihood of having another child with the condition?
If a couple has a child with Krabbe leukodystrophy, what is the likelihood of having another child with the condition?
If a couple's first baby is diagnosed with Leigh syndrome, what is the chance that future children will have it as well? Is this condition inherited from the mother or father?
If a couple's first baby is diagnosed with Leigh syndrome, what is the chance that future children will have it as well?
Is this condition inherited from the mother or father?
If a first child is affected by Duane syndrome, what is the likelihood that subsequent children will also be affected? Should genetic counseling be done prior to attempting a second pregnancy?
If a first child is affected by Duane syndrome, what is the likelihood that subsequent children will also be affected?
Should genetic counseling be done prior to attempting a second pregnancy?
If anencephaly occurred in a previous pregnancy, what are the chances of this condition affecting the next pregnancy if we take the recommended medication? How long should the medication be taken before attempting another pregnancy?
If anencephaly occurred in a previous pregnancy, what are the chances of this condition affecting the next pregnancy if we take the recommended medication?
How long should the medication be taken before attempting another pregnancy?
If a person with congenital central hypoventilation syndrome has a child, what are the odds that the child will need a tracheotomy?
If a person with congenital central hypoventilation syndrome has a child, what are the odds that the child will need a tracheotomy?
If a woman has a XXY karyotype, does this mean that she has Klinefelter syndrome?
If a woman has a XXY karyotype, does this mean that she has Klinefelter syndrome?
If glucose 6 phosphate dehydrogenase is needed to metabolize carbohydrates and it's missing, then what happens to the sugar in the blood? Where does it go?
If glucose 6 phosphate dehydrogenase is needed to metabolize carbohydrates and it's missing, then what happens to the sugar in the blood?
Where does it go?
I find all kinds of information about infants and NEC but cannot find any information about children in their late teens and into adulthood. I have identical twin sons now age 19. One twin developed NEC and the other did not. He asks many questions about his prognosis as an adult including life expectancy. Do you have any information I can give him or some internet sources that may answer questions for him that are not infant or child related?
Do you have any information I can give him?
Do you have some internet sources that may answer questions for him that are not infant?
Do you have child related?
If my father had a TP53 mutation, does that mean all his children have the mutation or each has a 50% chance of having it? If my father had the mutation and I do not have it, do my own children have a chance of having it or are they and all successive generations in the clear? If my family clearly meets the criteria for diagnosing this condition, but no one demonstrates the TP53 mutation in genetic testing, is it possible to determine if a given relative never diagnosed with cancer has the predisposition?
If my father had a TP53 mutation, does that mean all his children have the mutation or each has a 50% chance of having it?
If my father had the mutation and I do not have it, do my own children have a chance of having it or are they and all successive generations in the clear?
If my family clearly meets the criteria for diagnosing this condition, but no one demonstrates the TP53 mutation in genetic testing, is it possible to determine if a given relative never diagnosed with cancer has the predisposition?
If one child has Shwachman-Diamond syndrome, will the second child have it as well if the parents are the same?
If one child has Shwachman-Diamond syndrome, will the second child have it as well if the parents are the same?
If the symptoms of paraneoplastic neurologic disorders are caused by cancer, why do the symptoms appear before cancer is diagnosed? What is the prognosis for people with a paraneoplastic neurologic disorder?
If the symptoms of paraneoplastic neurologic disorders are caused by cancer, why do the symptoms appear before cancer is diagnosed?
What is the prognosis for people with a paraneoplastic neurologic disorder?
If TSH levels are found to be out of range in a new born baby, does this mean that the baby will have permanent or temporary deficiency?
If TSH levels are found to be out of range in a new born baby, does this mean that the baby will have permanent or temporary deficiency?
If you are diagnosed with lentigo maligna melanoma (LMM), what are the chances of having another, completely separate LMM at another site? Is LMM genetic?
If you are diagnosed with lentigo maligna melanoma (LMM), what are the chances of having another, completely separate LMM at another site?
Is LMM genetic?
I had a brain stem stroke one year ago and acquired Wallenberg syndrome. Is there any research programs which I could volunteer for? How can I find out about any research being done on Wallenberg syndrome?
Is there any research programs which I could volunteer for?
How can I find out about any research being done on Wallenberg syndrome?
I had a glomus jugulare tumor. It was removed, but it grew back in my neck several years later and now I can't swallow. How many people in the United States get a glomus jugulare tumor - I know that it's really rare.
How many people in the United States get a glomus jugulare tumor - I know that it's really rare.
I had a sacrococcygeal teratoma removed when I was very young. I have since had numerous surgeries to remove scar tissue and a total hysterectomy. I have been trying to get information as to what problems I may have because of this history. I have started having a lot problems and I now have to walk with a cane. I also have had horrible lower back pain for years - could this be due to this rare condition?
I have been trying to get information as to what problems I may have because of this history.
I also have had horrible lower back pain for years - could this be due to this rare condition?
I had a sibling with Neu-Laxova and I was always told growing up that I would have a 1 in 4 chance of having a child with this condition. I was wondering if that probability was still the same?
I was wondering if that probability was still the same?
I had a spinal cord stroke this past summer. My neurologist thinks it may have been a fibrocartilaginous embolism. What might I expect? Will this happen to me again? What is the amount of recovery on average with this type of injury and what caused it?
What might I expect?
Will this happen to me again?
What is the amount of recovery on average with this type of injury?
What caused it?
I had chronic osteomyelitis in my left femur as a child. I had extensive surgeries on the femur over a period of 10 years. After many years of being OK excepting a bit of arthritis, I had a bad fall two months ago, hurting my lower back. The pain has now gone into my hip and femur. I am wondering if this could have triggered anything relating to the osteomyelitis or would it be completely cured by now?
I am wondering if this could have triggered anything relating to the osteomyelitis or would it be completely cured by now?
I had craniosynostosis and now my daughter has this disorder. I'd like to know more about the genetics involved with this condition.
I'd like to know more about the genetics involved with this condition.
I had preeclampsia and HELLP syndrome with what I believe to be my first and only pregnancy. I believe my sister had eclampsia with her second pregnancy. I also believe that our mother may have had this condition but little was known at the time of my birth. Both my sister and I now have a daughter. Given our history, does this mean that they are at a higher risk for having these problems? My daughter is just learning of these things and is concerned that she will have the same complications as we did, so I told her I would look into it for her.
Given our history, does this mean that they are at a higher risk for having these problems?
I had surgery 5 years ago to remove sclerosing mesenteritis. Can this come back?
Can this come back?
I had two brothers with the severe form of Hunter syndrome and both have passed away. I was never tested to see if I am a carrier, and now my daughter would like to know if she is a carrier. Is there a definitive test to determine if one is a carrier? Who do we contact to be tested?
I was never tested to see if I am a carrier, and now my daughter would like to know if she is a carrier.
Is there a definitive test to determine if one is a carrier?
Who do we contact to be tested?
I had two thalamic strokes in 2009, which left me with chronic pain on my left side. What can I do for this condition?
What can I do for this condition?
I have 2 sons, a 12 year old and 22 year old. Both were blind after the birth and diagnosed with Norrie. Do you know if any progress has been made anywhere on earth to restore vision including but not limited to stem cell treatments?
Do you know if any progress has been made anywhere on earth to restore vision?
Do you know if any progress has been made anywhere on earth to restore vision including but not limited to stem cell treatments?
I have 3 brothers (and one that died 3 years ago) suffering from a genetic rare disease, neuroacanthocytosis. I am looking for any information about new medicines or any other suggestions.
I am looking for any information about new medicines.
I am looking for any other suggestions.
I have a 12-year-old granddaughter who has Desbuquois syndrome. Can you provide some information to help me understand this condition?
Can you provide some information to help me understand this condition?
I have a 24-month-old niece who has the following symptoms of Cohen syndrome: hypotonia (e.g. unable to stand), congenital cataract, narrow feet with overlapping fingers, slow learning, smaller than normal head size, and aggressive behavior. This is all new to my family and I would like seek your help in learning more about this condition, including what to expect.
This is all new to my family and I would like seek your help in learning more about this condition.
This is all new to my family and I would like seek your help in learning more about this condition, including what to expect.
I have a 4 year old son who was diagnosed with XYY karotype about a year ago. Lately, he has had a lot of behavior issues; he is very strong and he does throw several temper tantrums a day. I am looking for any advice how I can redirect him and get through to him on a positive note.
I am looking for any advice how I can redirect him.
I am looking for any advice how I can get through to him on a positive note.
I have a 7 year old daughter with this condition. What are the chances of having another child with the same condition?
What are the chances of having another child with the same condition?
I have a 7 year old patient diagnosed with PLEVA by skin biopsy. He has a chronic and relapsing course and we are trying to find more information for the family regarding this condition, its outcomes, and long-term complications.
He has a chronic and relapsing course and we are trying to find more information for the family regarding this condition.
He has a chronic and relapsing course and we are trying to find more information for the family regarding this condition, its outcomes.
He has a chronic and relapsing course and we are trying to find more information for the family regarding this condition, its long-term complications.
I have a 7-year-old son with Coffin-Lowry syndrome. Are there any foods or supplements that have been shown to benefit people with Coffin-Lowry syndrome? How might Coffin-Lowry be treated? Thanks for your help.
Are there any foods that have been shown to benefit people with Coffin-Lowry syndrome?
Are there any supplements that have been shown to benefit people with Coffin-Lowry syndrome?
How might Coffin-Lowry be treated?
I have a brother with X-linked spondyloepiphyseal dysplasia. I would like general information about this condition, including hip replacement surgery. I am also looking for doctors that might be able to help with the hip pain.
I would like general information about this condition.
I would like general information about this condition, including hip replacement surgery.
I am also looking for doctors that might be able to help with the hip pain.
I have accessory navicular bone and the condition is causing me considerable pain. How is this condition treated?
How is this condition treated?
I have achalasia. What causes this condition? How might it be treated? Where can I learn about research related to this condition?
What causes this condition?
How might it be treated?
Where can I learn about research related to this condition?
I have a chance to work with a child who has Emanuel sydrome. What is a child with this capable of learning? Is there a Web page that summarizes this syndrome and would be helpful to me?
What is a child with this capable of learning?
Is there a Web page that summarizes this syndrome and would be helpful to me?
I have a close friend whose neonate was born with severe hydrocephalus which was diagnosed at 32 weeks gestation. At 3 weeks of age the baby was diagnosed with a choroid plexus papilloma through MRI. The physicians plan to do a spinal MRI to see if it has spread. Have you found that children developing this condition in utero are more or less likely to have long term complications?
Have you found that children developing this condition in utero are more or less likely to have long term complications?
I have a close relative affected by aspergillosis. Can you tell me if there are any new treatments on the horizon for this condition?
Can you tell me if there are any new treatments on the horizon for this condition?
I have a cousin with osteogenesis imperfecta. Neither of his parents has the dominant gene. Is there a genetic test that can be done to determine whether I am a carrier?
Is there a genetic test that can be done to determine whether I am a carrier?
I have acquired amegakaryocytic thrombocytopenia. Can you help me find more information on this disease, its treatment, and its long-term prognosis?
Can you help me find more information on this disease?
Can you help me find more information on its treatment?
Can you help me find more information on its long-term prognosis?
I have acromesomelic dysplasia. As a result of an accident, I have back and knee injuries. I was told that this bone disease makes my bones weaker and age quicker. What is the prognosis of acromesomelic dysplasia? My doctors are not familiar with this condition. Also, what is the life expectancy?
What is the prognosis of acromesomelic dysplasia?
What is the life expectancy?
I have a daughter with megalencephalic leukoencephalopathy with subcortical cysts. Can I expect to have a healthy baby in the next pregnancy? Who can I talk to about this?
Can I expect to have a healthy baby in the next pregnancy?
Who can I talk to about this?
I have a daughter with this skin condition. I would like to know if there is a cure for it yet, and what sort of treatments are best. I heard about the Garra rufa "skin eating fish" being used in some places to treat certain skin disorders; will using this fish work for this type of skin disorder?
I would like to know if there is a cure for it yet.
I would like to know what sort of treatments are best.
I heard about the Garra rufa "skin eating fish" being used in some places to treat certain skin disorders; will using this fish work for this type of skin disorder?
I have a fairly large schwannoma / myxoma tumor in my right arm in the tricept. I would like to know if I'm likely to have other such tumors in other parts of my body.
I would like to know if I'm likely to have other such tumors in other parts of my body.
I have a family history of Huntington's disease. My mother was diagnosed with it about 5 years ago. I just needed to know some information about where I can get tested. Also, how early can they start treatment if I am diagnosed with it? I'm only 21 years old. I just thought that maybe the sooner they start the better.
I just needed to know some information about where I can get tested.
How early can they start treatment if I am diagnosed with it?
I have a family history of Usher syndrome. How can I find out whether I am a carrier of Usher syndrome?
How can I find out whether I am a carrier of Usher syndrome?
I have a few questions related to Jacobsen syndrome. Do children with this condition have any issues related to fine and/or gross motor skills? Are there problems with speech or social skills? Do they always have intellectual disabilities? If so, what level of intellectual disability is expected?
Do children with this condition have any issues related to fine and/or gross motor skills?
Are there problems with speech?
Are there problems with social skills?
Do they always have intellectual disabilities?
If so, what level of intellectual disability is expected?
I have a friend who has adult-onset Tay-Sachs disease. His symptoms began during middle school. What is the life-expectancy for individuals with this condition?
What is the life-expectancy for individuals with this condition?
I have a friend who has been diagnosed with multiple epiphyseal dysplasia. There is no other incidence of the condition within his family however his mother was born with a cleft palate. He believes he has passed on his mutation to both of his children. Based on this information do you think that his mutation is a result of random mutation or could there be a link between his mothers cleft palate and his condition? Is this condition dominant? And if so, what is the likelihood he could pass it on to his next child?
Based on this information do you think that his mutation is a result of random mutation or could there be a link between his mothers cleft palate and his condition?
Is this condition dominant?
If so, what is the likelihood he could pass it on to his next child?
I have a friend who is affected by progressive hemifacial atrophy. How is this condition treated? How can I locate doctors who are familiar with the management of this condition?
How is this condition treated?
How can I locate doctors who are familiar with the management of this condition?
I have a friend whose 8 month-old baby was recently diagnosed with Tay-Sach disease. Very few other children in the my country have been diagnosed with this disease and I’m desperate to learn more about it such its treatment and the availability of clinical trials.
Very few other children in the my country have been diagnosed with this disease and I’m desperate to learn more about it such its treatment.
Very few other children in the my country have been diagnosed with this disease and I’m desperate to learn more about it such its the availability of clinical trials.
I have a friend whose grandson recently died from complications associated with Stevens-Johnson syndrome. I have not been able to find information about this condition. What information can you provide?
What information can you provide?
I have a friend whose husband has Crohn's disease. She may be pregnant and is wondering what the likelihood is that her baby will have this disease. Is there a test that can diagnose Crohn's disease during pregnancy?
She may be pregnant and is wondering what the likelihood is that her baby will have this disease.
Is there a test that can diagnose Crohn's disease during pregnancy?
I have a friend whose toddler son was diagnosed with Cockayne syndrome. I would really like some more information about this condition and the survival rate for his son.
I would really like some more information about this condition for his son.
I would really like some more information about the survival rate for his son.
I have a friend who was diagnosed with Jarcho-Levin syndrome at birth. Is there information available about this condition that might be relevant to an adult?
Is there information available about this condition that might be relevant to an adult?
I have a good friend who has a 15 year-old son. The boy suffers from microvillus inclusion disease. They live in Russia. Local doctors have told her that there is no treatment for that rare disease, but we suppose that Western medicine is more developed and there is a solution. How might this condition be treated?
How might this condition be treated?
I have a loved one with hereditary leiomyomatosis and renal cell cancer who has a lot of skin leiomyomas. Does this mean he is at a particularly increased risk for developing renal cell carcinoma?
Does this mean he is at a particularly increased risk for developing renal cell carcinoma?
I have a low white blood cell count as well as several other symptoms. Although I have undergone testing, I still do not have a diagnosis. I recently learned about a young lady who had IRAK4 deficiency. I would like to know more about the conditon.
I would like to know more about the conditon.
I have already had extensive surgery to remove a microcystic adnexal carcinoma from my forehead and eyelid. Is radiation therapy recommended for this type of cancer?
Is radiation therapy recommended for this type of cancer?
I have a nephew who has Eagle-Barrett syndrome. I am interested in finding out what causes this to happen to babies, and surgical procedures that could fix some of the damage caused by this. Because of my nephew, I want to be involved in some way to help facilitate more research to find out the causes of this syndrome, and how to prevent it. If there is any information you can give on who to talk to about this, or where to start I would greatly appreciate it.
I am interested in finding out what causes this to happen to babies.
I am interested in finding out surgical procedures that could fix some of the damage caused by this.
Because of my nephew, I want to be involved in some way to help facilitate more research to find out the causes of this syndrome.
Because of my nephew, I want to be involved in some way to help facilitate more research to find out how to prevent it.
If there is any information you can give on who to talk to about this I would greatly appreciate it.
If there is any information you can give on where to start I would greatly appreciate it.
I have an infant daughter with Coffin Siris Syndrome. I am trying to find information about the disease as well as connect with other families who have an affected child.
I am trying to find information about the disease.
I am trying to connect with other families who have an affected child.
I have an orbital varix in my left eye. It affects my vision and causes eye pain. How can it be managed?
How can it be managed?
I have a patient who is suspected of having glycogen storage disease type 0. Is genetic testing for this condition available?
Is genetic testing for this condition available?
I have a patient who may have Williams syndrome. His mother was previously diagnosed with familial Mediterrranean fever, but she has facial features consistent with Williams syndrome. Do Williams syndrome and familial Mediterranean fever share any signs or symptoms?
Do Williams syndrome and familial Mediterranean fever share any signs?
Do Williams syndrome and familial Mediterranean fever share any symptoms?
I have a patient with Muir-Torre syndrome. Can you provide me with information related to this condition?
Can you provide me with information related to this condition?
I have a patient with urine citrulline levels at twice the upper limit of normal. All other urinary amino acids were low-normal. This patient has legitimate complaints of decreased energy as well. Standard CPE labs were normal. What is the typical presentation of citrullinemia type II? How is it diagnosed? How is it treated? Who is conducting research into this condition.
What is the typical presentation of citrullinemia type II?
How is it diagnosed?
How is it treated?
Who is conducting research into this condition.
I have a pregnant colleague that has been told her unborn child has Mohr syndrome (also known as orofaciodigital syndrome 2). I work in the health care field and have never heard of this disorder. I am looking for credible information that will help me understand this syndrome. I want to be informed.
I am looking for credible information that will help me understand this syndrome.
I have a problem. My hospital doesn't know a lot about Ochoa syndrome. I would like to know more if there are possibilities to live with it. I really can't handle it anymore. I'm 20 years old and I'm living since my birth with it. Please let me know.
I would like to know more if there are possibilities to live with it.
I have a relative who has essential tremor. How might this condition affect the activities of daily living? Are there ways to manage the symptoms?
How might this condition affect the activities of daily living?
Are there ways to manage the symptoms?
I have a single palmar crease on both of my hands. Do I have an increased chance of having a child with Down syndrome or another chromosome disorder?
Do I have an increased chance of having a child with Down syndrome?
Do I have an increased chance of having a child with another chromosome disorder?
I have a son who is 18 months old. He has Sturge-Weber and we are wondering what the percentage is that his birthmark will protrude from his face. What are the pros and cons of laser surgery? If we were to get the surgery, when would be the best time to get it done?
He has Sturge-Weber and we are wondering what the percentage is that his birthmark will protrude from his face.
What are the pros and cons of laser surgery?
If we were to get the surgery, when would be the best time to get it done?
I have a student who appears to have some of the symptoms of agnosia. He had the cord wrapped around the neck at birth. Most of what I've read about visual agnosia is that it happens when older patients have a stroke. Would it be possible for a child, such as this student, to have this condition?
Would it be possible for a child, such as this student, to have this condition?
I have autoimmune hepatitis. Can you provide me with new information about this condition?
Can you provide me with new information about this condition?
I have Axenfeld-Rieger syndrome. My symptoms include dislocated pupils and very high astigmatism with a detaching lens. I recently learned that a flattened mid-face, missing teeth, and mid section anomalies are also symptoms of this disorder. I would like to start a family; however I would first like to learn more about the chances of passing this on to my future children and the likelihood that their condition would be more serious than my own. Also, the lens in one of my eyes is detaching and migrating away from my displaced pupil. Is this a common effect of the disease? Can it be treated?
I would like to start a family; however I would first like to learn more about the chances of passing this on to my future children and the likelihood that their condition would be more serious than my own.
Is this a common effect of the disease?
Can it be treated?
I have a young friend who is affected by acute febrile neutrophilic dermatosis (Sweet syndrome). Can you provide me with information about this condition that can be shared with her physicians?
Can you provide me with information about this condition that can be shared with her physicians?
I have Beals syndrome (also known as congenital contractural arachnodactyly). I am a 19-year-old female and I was wondering how tall I would be because of this condition? The symptom is having a tall stature, but how tall? I'm 5'3 right now.
I am a 19-year-old female and I was wondering how tall I would be because of this condition?
The symptom is having a tall stature, but how tall?
I have Becker's nevus on the top of my right pectoral. I'm heavily into fitness and weight lifting. I've noticed that it is impossible for me to develop an even chest. Muscle seems to not grow where my nevus is located. Does Becker's nevus prohibit muscle development? Does the nevus affect me in that manner, and if so, is there any way to fix this?
Does Becker's nevus prohibit muscle development?
Does the nevus affect me in that manner?
If so, is there any way to fix this?
I have been diagnosed with a benign pseudomyxoma peritonei. Most of the information I have found relates to the malignant type. I had a hysterectomy and appendectomy with debulking three weeks ago. I was told I had a large ovarian tumor plus a tumor on my appendix, which seemed to be the one secreting mucus. What is the treatment for this condition?
What is the treatment for this condition?
I have been diagnosed with Behcet's disease. Although I have other symptoms, my eyes have been causing me the most trouble. Please tell me more about the ocular issues with Behcet's and how they might be treated.
Please tell me more about the ocular issues with Behcet's.
Please tell me more about how they might be treated.
I have been diagnosed with cholesteatoma. I am looking for general information about this condition, including the chances of being affected.
I am looking for general information about this condition.
I am looking for general information about this condition, including the chances of being affected.
I have been diagnosed with CPVT. I've been off medication for a few years and have been playing sports regularly. I've never had any syncope. I just read that if untreated CPVT is highly lethal. And now I'm starting to care. I have some questions about this disease: Is there any case of remission? Is it curable? Are sports under treatment better than without treatment? Is there a CPVT specialist anywhere in the world? What is the most up-to-date article/research about this disease?
I have some questions about this disease: Is there any case of remission?
Is it curable?
Are sports under treatment better than without treatment?
Is there a CPVT specialist anywhere in the world?
What is the most up-to-date article about this disease?
What is the most up-to-date research about this disease?
I have been diagnosed with erythromelalgia, and received a prescription for mexiletine. I noticed on the patient information sheet that it said that this medication is an anti-arrhythmic used to treat irregular heartbeat. Have you heard about mexiletine being used for erythromelalgia?
Have you heard about mexiletine being used for erythromelalgia?
I have been diagnosed with familial adenomatous polyposis (FAP), and my 9-year-old daughter is now having the same signs and symptoms as me. I know you can not give out medical advice, but I'm stuck and need some help for my daughter. How do I find a specialist for children with FAP? At what age do children begin having genetic testing for FAP?
How do I find a specialist for children with FAP?
At what age do children begin having genetic testing for FAP?
I have been diagnosed with familial hemiplegic migraine. Even though I have been taking medication, I am experiencing unsteadiness, headache pain, facial drooping, and I can't walk without getting off balance. It is normal to have these symptoms for three weeks when taking medication for the condition? Will this condition go away with age?
It is normal to have these symptoms for three weeks when taking medication for the condition?
Will this condition go away with age?
I have been diagnosed with frontal fibrosing hair loss (alopecia). Is this condition going to cause all of my hair to fall out or will the hair loss stop at some point? Will medication help, or are the side effects too concerning?
Is this condition going to cause all of my hair to fall out or will the hair loss stop at some point?
Will medication help, or are the side effects too concerning?
I have been diagnosed with intralobular pulmonary sequestration. What are the symptoms of this condition? How is it treated?
What are the symptoms of this condition?
How is it treated?
I have been diagnosed with Isaac's syndrome. I would like to learn more about this condition and how I can locate physicians familiar with it's management.
I would like to learn more about this condition.
How I can locate physicians familiar with it's management.
I have been diagnosed with Melnick-Needles syndrome. How can I learn more about this disease?
How can I learn more about this disease?
I have been diagnosed with MERRF and I am looking for information and treatment options for this condition that I can share with my local doctor.
I have been diagnosed with MERRF and I am looking for information for this condition that I can share with my local doctor.
I have been diagnosed with MERRF and I am looking for treatment options for this condition that I can share with my local doctor.
I have been diagnosed with morphea. Can you please provide me with patient-friendly information about this disease?
Can you please provide me with patient-friendly information about this disease?
I have been diagnosed with Mucha-Haberman disease. I don't know how I contracted this disease. For a couple of years, I was very sick and couldn't seem to get well. Now my symptoms flare up occasionally but I have blisters all of the time. What causes this condition? How is it treated?
What causes this condition?
How is it treated?
I have been diagnosed with Norum disease, a condition also known as lecithin cholesterol acyltransferase (LCAT) deficiency. I would appreciate any information that you could provide and post about this disease, as three generations of my family have been identified with it.
I would appreciate any information that you could provide about this disease, as three generations of my family have been identified with it.
I would appreciate any information that you could post about this disease, as three generations of my family have been identified with it.
I have been diagnosed with pheochromocytoma but believe that there is more to this than has been tested thus far. After reading numerous literature on everything I could find, I realized that something genetic and family based was taking place. Can you help me?
Can you help me?
I have been diagnosed with pigmented purpuric eruption. What are the symptoms of this condition? What causes it? Can it be treated? Will it eventually go away?
What are the symptoms of this condition?
What causes it?
Can it be treated?
Will it eventually go away?
I have been diagnosed with polycystic ovarian syndrome (PCOS), but the medication I am taking does not seem to be working. I recently learned that late-onset congenital adrenal hyperplasia can be misdiagnosed as PCOS in some women. Can you help me find information on PCOS and late-onset congenital adrenal hyperplasia?
Can you help me find information on PCOS?
Can you help me find information on late-onset congenital adrenal hyperplasia?
I have been diagnosed with primary melanoma of the small intestine. I can't find any information on this type of cancer. Can you help? Is there anyway to find other people with this condition?
Can you help?
Is there anyway to find other people with this condition?
I have been diagnosed with prurigo nodularis. Three years ago I was started on thalidomide for treatment. Since then I have developed many side effects, yet the prurigo nodularis has not been cured. How can this condition be treated? Is research being conducted to learn more about possible treatment options?
How can this condition be treated?
Is research being conducted to learn more about possible treatment options?
I have been diagnosed with pudendal neuralgia. My doctor has treated it with with pudendal nerve entrapment surgery and botox injections. Is there any scientific evidence from controlled trials or research studies that show botox is an effective treatment? Also, are there any other recommended treatments other than what my doctor has already tried for this condition?
Is there any scientific evidence from controlled trials that show botox is an effective treatment?
Is there any scientific evidence from research studies that show botox is an effective treatment?
Are there any other recommended treatments other than what my doctor has already tried for this condition?
I have been diagnosed with retroperitoneal fibrosis. Can you provide me with information about this disease?
Can you provide me with information about this disease?
I have been diagnosed with sarcoidosis. This condition has caused me severe pain and I wish to learn anything that might be useful to share with my doctors. Could this condition be the result of working in a hot silk-screen paint shop? Will I ever get over this condition? How can I manage the symptoms?
This condition has caused me severe pain and I wish to learn anything that might be useful to share with my doctors.
Could this condition be the result of working in a hot silk-screen paint shop?
Will I ever get over this condition?
How can I manage the symptoms?
I have been diagnosed with Takayasu arteritis. It has changed my life in many ways and I am yet to accept this condition. It has been very difficult for me to deal with this diagnosis and I'm not sure who to talk to or who to get information from.
It has been very difficult for me to deal with this diagnosis and I'm not sure who to talk to.
It has been very difficult for me to deal with this diagnosis and I'm not sure who to get information from.
I have been diagnosed with Tarlov cyst disease. Is there a cure for this condition? How is it treated? Are there surgical options? How can I find a doctor who is knowledgeable about Tarlov cysts?
Is there a cure for this condition?
How is it treated?
Are there surgical options?
How can I find a doctor who is knowledgeable about Tarlov cysts?
I have been diagnosed with trabecular fiber myopathy and can find nothing about it. I would like any information you can give me.
I would like any information you can give me.
I have been diagnosed with urachal cancer. Are there any new studies or treatments available for this rare disease?
Are there any new studies available for this rare disease?
Are there any new treatments available for this rare disease?
I have been diagnosed with Wells syndrome. How is this condition treated?
How is this condition treated?
I have been diagnosed with Wilson disease. What are the long-term effects of this disease? Will I need to be on medication for the rest of my life? Does Wilson disease count as a disability because an affected person has it all of their life? What are the chances that my children will have Wilson disease?
What are the long-term effects of this disease?
Will I need to be on medication for the rest of my life?
Does Wilson disease count as a disability because an affected person has it all of their life?
What are the chances that my children will have Wilson disease?
I have been having very bad upper stomach pains and wanted to know if any of the pains are coming from the Crigler Najjar syndrome, type 2 that I have? I’ve been experiencing this pain for two months.
I have been having very bad upper stomach pains and wanted to know if any of the pains are coming from the Crigler Najjar syndrome, type 2 that I have?
I have been on hemodialysis for a year as a result of Alport syndrome. My two uncles died of kidney disease associated with this condition. What treatments are available for this condition?
What treatments are available for this condition?
I have been recently diagnosed with antisynthetase syndrome, acute interstitial lung disease, muscle weakness, skin involvement, scleroderma, and dermatomyositis. Could you please provide me with information on antisynthetase syndrome? I am also interested in learning about prognosis, treatment, and clinical trials.
Could you please provide me with information on antisynthetase syndrome?
I am also interested in learning about prognosis.
I am also interested in learning about treatment.
I am also interested in learning about clinical trials.
I have been recently diagnosed with Evans syndrome. Can you provide me with information about this condition, including treatment options and mortality rates?
Can you provide me with information about this condition?
Can you provide me with information about this condition, including treatment options?
Can you provide me with information about this condition, including mortality rates?
I have been recently diagnosed with superior mesenteric artery syndrome. Can you provide me with information about this condition?
Can you provide me with information about this condition?
I have been recovering from Parsonage Turner syndrome for years. I still have some pain, the fatigue is still with me and my quality of life is compromised. Can this develop into something else? Also, is it normal that I still have fatigue after 5 plus years?
Can this develop into something else?
Is it normal that I still have fatigue after 5 plus years?
I have been researching familial hypercholesterolemia. A couple of web sites have called it autosomal dominant. If I remember correctly that would mean that in order for a person to have FH, he would have to have a parent with FH. Is my thinking correct on this matter?
Is my thinking correct on this matter?
I have been told that I probably have Marfan's Syndrome and at this point it appears to be a mild form of the condition (aortic aneurysm and mitral valve prolapse). I am a 60 year old mother of 4 children. My question is that because this is a genetic condition, what are the chances that my children and grandchildren have inherited it and will they also inherit the mild form?
My question is that because this is a genetic condition, what are the chances that my children have inherited it?
My question is that because this is a genetic condition, what are the chances that my grandchildren have inherited it?
My question is that because this is a genetic condition, will they also inherit the mild form?
I have cherubism. I was diagnosed at age 3 and had the tumor surgically removed at age 13. Then I had implants placed for permanent teeth at age 20. Today I live normally. My main concern and reason for contact is: I'd like to know more about the cause of cherubism. How or why did I get it? There is no history in either of my families of cherubism. What are the signs and symptoms of cherubism? Do my future children run a strong risk? Can I be tested to see if I am a carrier? If I find that I am not a carrier can they still turn up with the disease? Is there prenatal testing available for cherubism. As you can see, I am mostly concerned for the future of my family. I do not have kids yet, but do plan to.
My main concern and reason for contact is: I'd like to know more about the cause of cherubism.
How did I get it?
Why did I get it?
What are the signs of cherubism?
What are the symptoms of cherubism?
Do my future children run a strong risk?
Can I be tested to see if I am a carrier?
If I find that I am not a carrier can they still turn up with the disease?
Is there prenatal testing available for cherubism.
I have cone-rod dystrophy. I have looked all over the internet for answers about my condition. Do you have information about treatments or possible future treatments? Are there any studies or trials that are being done that I might be able to take part in?
Do you have information about treatments?
Do you have information about possible future treatments?
Are there any studies that are being done that I might be able to take part in?
Are there any trials that are being done that I might be able to take part in?
I have congenital ichthyosiform erythroderma since birth. I want to know if there is any treatment because I am really looking to get treatment for this disease.
I want to know if there is any treatment because I am really looking to get treatment for this disease.
I have dense deposit disease. Are nausea and vomiting symptoms of the disease?
Is nausea symptoms of the disease?
Is vomiting symptoms of the disease?
I have diffuse idiopathic skeletal hyperostosis (DISH), a condition also known as Forestier disease. I would like to learn more about this disease, including how it is treated.
I would like to learn more about this disease.
I would like to learn more about this disease, including how it is treated.
I have disseminated granuloma annular. Will this condition cause my tissue to die? Have there been reports of granuloma annular following ingestion of allopurinol?
Will this condition cause my tissue to die?
Have there been reports of granuloma annular following ingestion of allopurinol?
I have Duane syndrome. These is no known family history. What the probability of passing this condition on to any future offspring?
What the probability of passing this condition on to any future offspring?
I have Dubin-Johnson syndrome. Can this condition be passed along to another individual through sexual intercourse?
Can this condition be passed along to another individual through sexual intercourse?
I have endocarditis for the fourth time. Each time it has been caused by the same bacteria. How can I prevent reinfection?
How can I prevent reinfection?
I have epidermolysis bullosa acquisita. Occasionally I have to have my fingernails removed, as they act like ingrown toe nails. My doctors tell me there is no other way to prevent them from growing back, except for phenol carbolic acid, and I had a reaction to that when they took off a toe nail. In addition, I would like to contact other people with epidermolysis bullosa acquisita.
In addition, I would like to contact other people with epidermolysis bullosa acquisita.
I have erythema elevatum diutinum. How might this condition be treated? Will I ever be able to take less medication? Can diet affect this condition? Will it ever go away? Is this condition genetic?
How might this condition be treated?
Will I ever be able to take less medication?
Can diet affect this condition?
Will it ever go away?
Is this condition genetic?
I have experienced several bouts of hiccups that go on for several weeks to months with no relief. I have had all of the normal tests to determine a cause, but no cause has been identified. I also have other stomach problems. What causes intractable hiccups? What tests may be conducted to determine the underlying cause of intractable hiccups? Can intractable hiccups be related to other stomach problems? How might intractable hiccups be treated?
What causes intractable hiccups?
What tests may be conducted to determine the underlying cause of intractable hiccups?
Can intractable hiccups be related to other stomach problems?
How might intractable hiccups be treated?
I have factor V Leiden and was wondering if it's safe to use oral contraceptives. I want to take the pill called Levlin.
I have factor V Leiden and was wondering if it's safe to use oral contraceptives.
I have familial adenomatous polyposis (FAP). Recently, my physicians have identified polyps in the upper portion of my intestine, my gall bladder, and my stomach. Are these all the same type of polyps?
Are these all the same type of polyps?
I have fibrodysplasia ossificans progressiva and recently had my first fracture. I am currently taking medication but continue to have pain in my leg, hand, and elbow. What are the risks of operation? Can myositis ossificans be passed to the next generation?
What are the risks of operation?
Can myositis ossificans be passed to the next generation?
I have fibromuscular dysplasia in several of my arteries. My doctor says this condition is usually caused from smoking, but I have never smoked. What would cause this disease to occur in so many arteries?
What would cause this disease to occur in so many arteries?
I have fibromyalgia and am concerned that my family members will develop, especially my daughter who is beginning to have symptoms of the condition. Is fibromyalgia genetic? Is there genetic testing for the condition?
Is fibromyalgia genetic?
Is there genetic testing for the condition?
I have glycogen storage disease type 5. I have also had fatty liver for as long as I can remember. In addition my CPK levels on a good day can be 800. Can my liver problems be attributed to glycogen storage disease type 5?
Can my liver problems be attributed to glycogen storage disease type 5?
I have green eyes with a yellow/brown tint, but one fourth of my right eye is dark brown. I've been wanting to know more about heterochromia iridis: what is it and how rare is it?
I've been wanting to know more about heterochromia iridis: what is it?
I've been wanting to know more about heterochromia iridis: how rare is it?
My father had arachnoiditis. Can you provide information about this condition, including symptoms, causes, and if it is genetic?
Can you provide information about this condition?
Can you provide information about this condition, including symptoms?
Can you provide information about this condition, including causes?
Can you provide information about this condition, including if it is genetic?
My father has Buschke Fischer keratoderma palmo-plantaris. Is there any treatment for this condition?
Is there any treatment for this condition?
My father has Crohn's disease for which he has had many surgeries in his lifetime. His brother (my uncle) also had this disease as a young adult. Can you tell me what percent chance I would have of having this disease as well? My fathers other young adult children do not have it as of yet.
Can you tell me what percent chance I would have of having this disease as well?
My father has multiple system atrophy with orthostatic hypotension. Is this hereditary? Is this something my brother and sisters or our children should make our doctors aware of in case symptoms start appearing?
Is this hereditary?
Is this something my brother should make our doctors aware of in case symptoms start appearing?
Is this something my sisters should make our doctors aware of in case symptoms start appearing?
Is this something my our children should make our doctors aware of in case symptoms start appearing?
My father is 63 years old and suffers from Shapiro syndrome. So far no doctor or treatment plan has helped. The condition and length of time of the attacks continue to get worst.
So far no doctor has helped.
So far no treatment plan has helped.
My father may have this disease. Should I be tested? Where? How? If this is caught early can anything be done about it? What treatment opportunities are there? Is this limited to French Canadians? We cannot trace our genealogy back to French Canada but we do know that some of our ancestors came from Europe.
Should I be tested?
Where?
How?
If this is caught early can anything be done about it?
What treatment opportunities are there?
Is this limited to French Canadians?
My father was diagnosed with cerebellar degeneration. He isn't on any medication and he feels terrible all the time. Is there anything out there that can help him such as medications or alternative therapies?
Is there anything out there that can help him?
Is there anything out there that can help him such as medications?
Is there anything out there that can help him such as alternative therapies?
My father was diagnosed with dermatomyositis and has some long-lasting symptoms. Is it possible that radiation exposure could be contributing to his condition?
Is it possible that radiation exposure could be contributing to his condition?
My father was diagnosed with epidermoid carcinoma in his mouth. Is this curable?
Is this curable?
My first child has the gene responsible for pyruvate kinase deficiency. Are there ways to monitor for this condition prenatally? Where can we access genetic testing for pyruvate kinase deficiency?
Are there ways to monitor for this condition prenatally?
Where can we access genetic testing for pyruvate kinase deficiency?
My first episode of Behcet's disease was pretty mild. Is my next episode likely to be the same or progress to a more aggressive event?
Is my next episode likely to be the same or progress to a more aggressive event?
My foster child will be tested for Prader-Willi syndrome, but has a very high IQ. Is it possible for people with Prader-Willi to have high IQs?
Is it possible for people with Prader-Willi to have high IQs?
My four-year-old daughter has been diagnosed with hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). It is apparently quite rare and we would like information on this condition.
It is apparently quite rare and we would like information on this condition.
My friend has a relative who has asternia. What are the symptoms of asternia? What are the treatments for this condition?
What are the symptoms of asternia?
What are the treatments for this condition?
My friend has been diagnosed with Boeck's sarcoidosis. What is it? What can be done and how does it work? What natural therapy can be used?
What is it?
What can be done?
How does it work?
What natural therapy can be used?
My friend has Best disease in his right eye. His vision in this eye is quite stable, although he sees a black spot wherever he focuses. Will his vision remain the same or it can it deteriorate? Is there any way to improve his vision? What are the chances of his left eye also developing Best disease?
Will his vision remain the same or it can it deteriorate?
Is there any way to improve his vision?
What are the chances of his left eye also developing Best disease?
My friend has hidradenitis suppurativa. Can you please help me find more information?
Can you please help me find more information?
My friend is 48-years-old and has had hypertension for more than 15 years. Her potassium levels are always elevated and her doctors do not know why. Her serum creatinin is normal. Do you think she has pseudohypoaldosteronism type II?
Do you think she has pseudohypoaldosteronism type II?
My friend's 3-year-old daughter was just diagnosed with Rett Syndrome. A boy sibling was born last week, and he does not have Rett syndrome. Where can we find more information? How do you become part of a clinical trial?
Where can we find more information?
How do you become part of a clinical trial?
My friends little boy is 3-years-old and has been diagnosed with Chiari malformation type 1. Could you tell me how it will affect his life? Is the outcome good or bad? He suffers from headaches at the moment.
Could you tell me how it will affect his life?
Is the outcome good or bad?
My friend was diagnosed with chronic inflammatory demyelinating polyneuropathy several months ago. He has been treated with platelet transfusions and gabapentin without relief. Are there other options for treatment? What is the outlook for this condition?
Are there other options for treatment?
What is the outlook for this condition?
My friend was recently diagnosed with Horner syndrome. I am trying to find information and resources regarding this topic.
I am trying to find information regarding this topic.
I am trying to find resources regarding this topic.
My girlfriend has Best vitelliform macular dystrophy and I feel helpless because she tells me there is nothing anyone could do. Are there any clinical trials or research studies for this type of disease? Is there any treatment that can help? Also, can you go completely blind from this condition?
Are there any clinical trials for this type of disease?
Are there any research studies for this type of disease?
Is there any treatment that can help?
Can you go completely blind from this condition?
My girlfriend has this disease. Can you please provide some basic information on this disease including treatment and possible outcomes? How long does it take for eye sight to deteriorate?
Can you please provide some basic information on this disease?
Can you please provide some basic information on this disease including treatment?
Can you please provide some basic information on this disease including possible outcomes?
How long does it take for eye sight to deteriorate?
My girlfriend's grandmother has Myotonic dystrophy type 1. Fortunately neither my girlfriend's mother nor father is affected, but this disease is quite common in her mother's family. I want to know the probability that either my girlfriend or our children could get this disease.
I want to know the probability that my girlfriend could get this disease.
I want to know the probability that our children could get this disease.
My girlfriend's maternal aunt has vitiligo. What are the chances for our children to have vitiligo?
What are the chances for our children to have vitiligo?
My girlfriend's physicians think that she may have Susac syndrome. Can you provide us with some more information about this disease, particularly how it is treated and what we might expect in terms of prognosis?
Can you provide us with some more information about this disease?
Can you provide us with some more information about this disease, particularly how it is treated?
Can you provide us with some more information about this disease, particularly what we might expect in terms of prognosis?
My granddaughter had familial hemophagocytic lymphohistiocytosis when she was 8 months old. Can her brothers also develop this disease? I have noticed that both of the boys have had skin problems but the older one, now 13, has developed asthma and unexplained headaches. My granddaughter received a BMT from the 2nd born who is now 11 years old. Is there any testing we can have done to check the boys for the presence or absence of the disease?
Can her brothers also develop this disease?
Is there any testing we can have done to check the boys for the presence or absence of the disease?
My granddaughter has been diagnosed with pyruvate kinase deficiency. I have many questions about this condition, including how many people may be affected and if it is more common in any particular population. Any information you could provide would be helpful.
I have many questions about this condition.
I have many questions about this condition, including how many people may be affected.
I have many questions about this condition, including if it is more common in any particular population.
Any information you could provide would be helpful.
My granddaughter has just been diagnosed with glycine encephalopathy. She is 3 months old. All the articles we have read are very complicated. What is glycine encephalopathy about? What treatment is there and what are her survival chances?
What is glycine encephalopathy about?
What treatment is there?
What are her survival chances?
My granddaughter is 6-months-old and has microcephaly. The geneticist said there is a slight possibility she has COFS syndrome. Can you please give us more information?
Can you please give us more information?
My granddaughter was diagnosed from a genetic blood test with Noonan syndrome, and has a mutation in the SOS1 gene. She is only 3 months old and has already had 3 operations due to stridor. She also has a heart murmur and pulmonary stenosis. She is not eating and has had to have a feeding tube. My daughter and son-in-law need help in knowing what is best to do for her.
My daughter and son-in-law need help in knowing what is best to do for her.
My granddaughter was recently diagnosed with arachnoid cysts. Can you provide me with information about this condition? Is it genetic?
Can you provide me with information about this condition?
Is it genetic?
My grandfather just recently found out he has polycystic kidney disease, and I am curious to know if I have it also. I am 20 years old and have experienced some symptoms. What is the best way to go about testing for this condition? What kinds of tests do they run?
What is the best way to go about testing for this condition?
What kinds of tests do they run?
My grandmother on my dad's side has two copies of the factor V Leiden gene mutation. I have one copy. Do I need to go and see a hematologist to get on blood thinners, or is there really nothing that they would do since I only have the one copy? Also, if I have one copy does that mean that my father has two copies of it or could he possibly have only the one copy as well?
Do I need to go and see a hematologist to get on blood thinners, or is there really nothing that they would do since I only have the one copy?
If I have one copy does that mean that my father has two copies of it or could he possibly have only the one copy as well?
My grandson has been diagnosed with hereditary fructose intolerance. The family has not been able to see a dietician, and they are having a hard time finding good recipes. Please give me some info so I can help them.
Please give me some info so I can help them.
My grandson has been diagnosed with LEOPARD syndrome. We have just noticed that his eyes are beginning to cross. Is this a sign also?
Is this a sign also?
My grandson has Joubert syndrome, autism, and ADHD. Is autism related to Joubert syndrome?
Is autism related to Joubert syndrome?
My grandson has Lenz microphthalmia syndrome. Is there any information in the medical literaure, research studies, or clinical trials regarding the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with this syndrome?
Is there any information in the medical literaure regarding the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with this syndrome?
Is there any information in research studies regarding the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with this syndrome?
Is there any information in clinical trials regarding the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with this syndrome?
My grandson has the condition. I want to know if there is medication that will result in a normal stature.
I want to know if there is medication that will result in a normal stature.
My grandson was diagnosed with IVA at birth. He seems to be quite healthy. He's 8 years old, very active and grades are great at school. His diet is mostly potatoes and fruit. He will not eat meat or poultry, but on some occasions. Will this condition be with him throughout his life, or is it possible that it will clear up?
Will this condition be with him throughout his life, or is it possible that it will clear up?
My grandson was recently diagnosed with hemimegalencephaly. He's currently on-track developmentally. Are there degrees of severity with this condition? Where can we find the best information or an expert we could talk to?
Are there degrees of severity with this condition?
Where can we find the best information?
Where can we find an expert we could talk to?
My husband and I are adopting a 7 year old boy who has been diagnosed with Hanhart syndrome. We need help. Is there anybody who could give us information and guidance about this condition?
Is there anybody who could give us information about this condition?
Is there anybody who could give us guidance about this condition?
My husband and son have been diagnosed with stiff person syndrome. I am concerned about my other son and my grandson. Is there genetic testing for stiff person syndrome?
Is there genetic testing for stiff person syndrome?
My husband had a bleed 20 yrs ago and has multiple cerebral cavernous malformations (CCM). My son had a bleed and was also diagnosed with multiple CCMs. Does our family need genetic testing?
Does our family need genetic testing?
My husband had a mole on his leg and a biopsy confirmed that it is a dermatofibrosarcoma protuberans. Is this very harmful like other cancers? Is there any chance it could spread to other parts of the body? What is the chance for recurrence? What are the available treatments? Are there precautions to take to avoid recurrence?
Is this very harmful like other cancers?
Is there any chance it could spread to other parts of the body?
What is the chance for recurrence?
What are the available treatments?
Are there precautions to take to avoid recurrence?
My husband had dermatofibrosarcoma protuberans on his thigh. Will it spread to other parts of the body by the lymph? If it spreads, what are the symptoms? Can dermatofibrosarcoma affect heart, lungs, liver, kidney or other internal organs? If so, what are the symptoms? Can any symptoms be found during a complete body checkup before it spreads?
Will it spread to other parts of the body by the lymph?
If it spreads, what are the symptoms?
Can dermatofibrosarcoma affect heart?
Can dermatofibrosarcoma affect lungs?
Can dermatofibrosarcoma affect liver?
Can dermatofibrosarcoma affect kidney?
Can dermatofibrosarcoma affect other internal organs?
If so, what are the symptoms?
Can any symptoms be found during a complete body checkup before it spreads?
My husband had Lambert Eaton myasthenic syndrome. Are our two children at risk to develop this condition?
Are our two children at risk to develop this condition?
My husband had surgery for a hemangioblastoma, but his doctors are clueless about what to do next. Should he have genetic testing?
Should he have genetic testing?
My husband has a family history of oculopharyngeal muscular dystrophy. I am worried that he may be affected. Can the symptoms of this condition occur at earlier ages in susequent generations? Could this condition affect sperm mobility? What are the chances that a child we have together could be affected?
Can the symptoms of this condition occur at earlier ages in susequent generations?
Could this condition affect sperm mobility?
What are the chances that a child we have together could be affected?
My husband has a ganglioglioma, which he has battled for five years. It seems like all the drugs or surgeries make it grow. Is there anything you can tell me, such as what caused it or why is it growing so quickly? I know a lot of people don't have it, but there have to be some answers. Is any research being done on this condition?
Is there anything you can tell me?
Is there anything you can tell me, such as what caused it?
Is there anything you can tell me, such as why is it growing so quickly?
Is any research being done on this condition?
My husband has Alagille syndrome which affects his liver, kidneys, back and blood pressure. He recently developed joint problems in both knees. Is this related to Alagille syndrome? What is the outlook for people with Allagille syndrome?
Is this related to Alagille syndrome?
What is the outlook for people with Allagille syndrome?
My husband has been diagnosed with acute posterior multifocal placoid pigment epitheliopathy. Is the vision loss associated with this condition permanent?
Is the vision loss associated with this condition permanent?
My husband has been diagnosed with gray zone lymphoma. What are the treatment options for this condition?
What are the treatment options for this condition?
My husband has been diagnosed with type 2 myotonic dystrophy. We have two daughters who will be tested. Where can we learn more about this condition?
Where can we learn more about this condition?
My husband has been diagnosed with Wegener's granulomatosis. How might this condition be treated? How can I learn about research involving this condition?
How might this condition be treated?
How can I learn about research involving this condition?
My husband has Ehlers Danlos syndrome hypermobility type. He has severe syncope and very low blood pressure. What heart conditions are associated with Ehlers Danlos syndrome hypermobility type? Do people with Ehlers Danlos syndrome hypermobility type have a shortened life expectancy?
What heart conditions are associated with Ehlers Danlos syndrome hypermobility type?
Do people with Ehlers Danlos syndrome hypermobility type have a shortened life expectancy?
My husband has factor V Leiden. How could he have this when nobody else in his family has it including his parents? Is this disorder always passed down or can it skip a generation? What is the chance that our kids will have it?
How could he have this when nobody else in his family has it including his parents?
Is this disorder always passed down or can it skip a generation?
What is the chance that our kids will have it?
My husband has had osteochondritis dissecans for a number of years and has undergone multiple surgeries. His condition is causing him more pain and disability than ever. He can hardly walk without assistance. He's been recommended knee replacements, but our insurance won't cover this surgery. Is there any advice that you can give me? I'm not sure how I can help him.
Is there any advice that you can give me?
My husband has Klinefelter syndrome. I have read a lot of things about this syndrome, but I want to know more about the future. He is 33-years-old, and he didn't take any medication for Klinefelter syndrome in the past. What is the chance of him becoming a father?
I have read a lot of things about this syndrome, but I want to know more about the future.
What is the chance of him becoming a father?
My husband has Lambert-Eaton myasthenic syndrome. We read somewhere that this condition may be caused by an anesthetic. I'm now unable to locate that information. Is that true? If so, what anesthetic?
Is that true?
If so, what anesthetic?
My husband has prurigo nodularis (PN). No one knows how to treat the condition. Is there treatment for this skin disease? Is research being conducted to learn more about possible treatment options for prurigo nodularis?
Is there treatment for this skin disease?
Is research being conducted to learn more about possible treatment options for prurigo nodularis?
My husband has sclerosing mesenteritis. Is this disease dangerous?
Is this disease dangerous?
My husband has situs inversus. Is the brain turned around or otherwise affected in individuals with this condition?
Is the brain turned around in individuals with this condition?
Is the brain otherwise affected in individuals with this condition?
My husband is 38-years-old, and we just found out he has fibromuscular dysplasia (FMD). He had a stroke 6 months ago. My question is, how long before he has another stroke? Can this take his life?
My question is, how long before he has another stroke?
Can this take his life?
My husband is a carrier of glutamic acidemia type I. I am not a carrier. Are our children at risk to develop this condition? Are all individuals with glutaric acidemia identified in infancy? Where can I access genetic testing for glutaminc acidemia type I?
Are our children at risk to develop this condition?
Are all individuals with glutaric acidemia identified in infancy?
Where can I access genetic testing for glutaminc acidemia type I?
My husband, now 44 years of age, was diagnosed with alkaptonuria 10 years ago. Until recently, he experienced discoloration of the urine, occasional stiff joints, and rupture of tendons. Now he is having breathing problems and stomach issues. Are these symptoms related to alkaptonuria? Are there any treatments for this condition? Are there dietary guidelines for individuals with alkaptonuria?
Are these symptoms related to alkaptonuria?
Are there any treatments for this condition?
Are there dietary guidelines for individuals with alkaptonuria?
My husband passed away rather suddenly from APL in 2009. I was reading that the translocation occurs after conception. I have two young boys and although I know it is not inherited, I would like to know if there is a way to test if the translocation has occurred.
I have two young boys and although I know it is not inherited, I would like to know if there is a way to test if the translocation has occurred.
My husband's brother just found out he has ARVC. My husband plans to have genetic testing. If my husband does not carry the gene, are my children still at risk for developing this condition? Also, if you have the gene will it be manifested as ARVC or do you just have the possibility of it developing?
If my husband does not carry the gene, are my children still at risk for developing this condition?
If you have the gene will it be manifested as ARVC or do you just have the possibility of it developing?
My husband's grandmother had three children. Two of her sons with Wiskott Aldrich syndrome (WAS) died at ages 7 and 3. My husband's father did not have it, and he had 3 boys. My husband and I are expecting. Is there a chance our child will have WAS?
Is there a chance our child will have WAS?
My husband's sister's son has a form of ectodermal dysplasia (problems with the skin, hair, sweat glands and teeth). No one else in my husband's family is affected. My husband and I don't have children yet. Is it possible that my husband is a carrier or that my future children could have the condition or be carriers? I'm very confused and worried.
Is it possible that my husband is a carrier?
Is it possible that my future children could have the condition?
Is it possible that my future children could be carriers?
My husband was diagnosed in 1998 with VIPoma. He uses octreotide to help control the symptoms. Is there any other known treatment (other than surgery) for this rare cancer?
Is there any other known treatment (other than surgery) for this rare cancer?
My husband was diagnosed with Felty's syndrome and died a few months later. Is Felty's syndrome inherited? I am concerned that my son is at risk for having the condition.
Is Felty's syndrome inherited?
My husband was diagnosed with multiple sclerosis (MS) in 1999, and now with a second opinion he was diagnosed with possible primary lateral sclerosis (PLS). How does MS differ from PLS? How are MS and PLS diagnosed?
How does MS differ from PLS?
How are MS and PLS diagnosed?
My husband was diagnosed with sinonasal undifferentiated carcinoma (SNUC). We know very little about it. The cancer has metastasized to his lymph nodes and liver. It started with a very large tumor that grew up from the sinuses and pressed against his frontal lobe. He has had surgery and is now receiving chemotherapy. Any information you have about this cancer, any current therapies, or research trials could be helpful.
Any information you have about this cancer could be helpful.
Any information you have about any current therapies could be helpful.
Any information you have about research trials could be helpful.
My identical twin sister has been diagnosed with progressive supranuclear palsy (PSP). As it seems this disease may have a genetic cause, what is the chance that I would also develop PSP? And within what timeframe?
As it seems this disease may have a genetic cause, what is the chance that I would also develop PSP?
Within what timeframe?
My infant daughter passed away in the 1980s due to complications associated with autosomal recessive polycystic kidney disease. Is there a cure for the disease? What treatment options are available?
Is there a cure for the disease?
What treatment options are available?
My infant nephew has been diagnosed with epidermolysis bullosa simplex, Koebner type. We were told that this is a genetic condition, even though no other members of our family are affected. We live in Spain and have not received much information. How is epidermolysis bullosa inherited? Can it be treated? How can we learn about research that may be occurring throughout the world?
How is epidermolysis bullosa inherited?
Can it be treated?
How can we learn about research that may be occurring throughout the world?
My infant son has 5 cafe au lait spots on his trunk and left leg. He was adopted, so I don't know about family history. Is there a genetic test which can help to rule-out neurofibromatosis?
Is there a genetic test which can help to rule-out neurofibromatosis?
My little baby has Krabbe leukodystrophy. Here in Italy, doctors give us no chance. Can you help us?
Can you help us?
My mom has been diagnosed with a Klatskin tumor. They tried to remove it but were unable to do so. What symptoms might develop as her condition progresses? Her eyesight has become blurred. Could this be related to her condition?
What symptoms might develop as her condition progresses?
Could this be related to her condition?
My mom has had cerebellar degeneration for several years, yet I still know very little about it. Can you provide me with some information?
Can you provide me with some information?
My mom is dying from this very painful and agonizing disease. She lost both of her legs 4 years ago due to the disease and it has now progressed to her hands, and it's looking as though it's now going to take her hands from her. The pain she bears is very difficult to endure. Is there anything that could help her?
Is there anything that could help her?
My mom passed away with MMT Uterine Cancer. The doctors tell me its very rare. I'm still unsure and wanted to know more about this cancer and if it is genetic.
I'm still unsure and wanted to know more about this cancer.
I'm still unsure and wanted to know if it is genetic.
My mother and her identical twin sister have CADASIL. While some of my cousins have the condition, I do not. Am I at risk to inherit this condition?
Am I at risk to inherit this condition?
My mother had a baby with anencephaly. Does this increase the chances for me to have a baby with this condition?
Does this increase the chances for me to have a baby with this condition?
My mother had a tumor removed from her back. They diagnosed the tumor as a dermatofibrosarcoma protuberans. They don't think they got it all. How quickly will this tumor regrow. Will my mother have to have another surgery. She is in her 80's and does not want to undergo a second surgery.
How quickly will this tumor regrow.
Will my mother have to have another surgery.
My mother had HELLP syndrome. Is this condition genetic? Am I at high risk of getting HELLP syndrome when I get pregnant?
Is this condition genetic?
Am I at high risk of getting HELLP syndrome when I get pregnant?
My mother has been diagnosed with dermatomyositis. She has not responded to the treatments she has received. Can you provide information about the symptoms, treatment, and prognosis for this condition?
Can you provide information about the symptoms for this condition?
Can you provide information about the treatment for this condition?
Can you provide information about the prognosis for this condition?
My mother has been diagnosed with gamma heavy chain disease. How can this disease be treated? Several members of my family have autoimmune diseases like those that may be associated with gamma heavy chain disease. Can this condition be prevented?
How can this disease be treated?
Can this condition be prevented?
My mother has had 2 to 3 episodes of transient global amnesia (TGA) in the last 8 months. How often does a person have repeated episodes of TGA? What can we do to make them stop?
How often does a person have repeated episodes of TGA?
What can we do to make them stop?
My mother has had epidermolysis bullosa for many years. She recently underwent total knee replacement surgery and another surgery to flush out a staph infection and has had wound healing problems, including pus, redness and fever. We are concerned about complications from infection and wanted to know if there is any research related to wound healing in patients with epidermolysis bullosa. Where can we read more information about treatment? How can we find a physician who is knowledgeable about this condition?
We are concerned about complications from infection and wanted to know if there is any research related to wound healing in patients with epidermolysis bullosa.
Where can we read more information about treatment?
How can we find a physician who is knowledgeable about this condition?
My mother has polymyositis. How might this condition be treated?
How might this condition be treated?
My mother has recently been diagnosed with Carney Complex/Cushings syndrome. Where can we find more information and a place where she can receive emotional support? A lot of the physicians involved in her care are unfamiliar with this condition.
Where can we find more information?
Where can we find a place where she can receive emotional support?
My mother has recently been diagnosed with this disease. Her first symptoms became apparent about 2.5 years ago when she developed weakness in one foot. She currently has little movement in her legs, and her hands, arms, speech and breathing are affected. What is the prognosis and life expectancy for this condition and what can we expect from here?
What is the prognosis for this condition?
What is the life expectancy for this condition?
What can we expect from here?
My mother has spasmodic dysphonia and I believe that I may have it too. How is this condition diagnosed? Is genetic testing available for this condition?
How is this condition diagnosed?
Is genetic testing available for this condition?
My mother has spastic paraplegia. She was diagnosed about five years ago at the Mayo Clinic. She has the complicated form of the disorder because she is confined to a wheelchair and her mind has slowed down. Also, her brother also had this disorder. I know that I have a 50% chance of inheriting this disorder. Since my family members' cases are so severe, does this mean mine probably would be as well? Also, what research is being done to work towards a cure for this?
Since my family members' cases are so severe, does this mean mine probably would be as well?
What research is being done to work towards a cure for this?
My mother-in-law died from Goodpasture syndrome. Is my husband at an increased risk for developing this syndrome in the future?
Is my husband at an increased risk for developing this syndrome in the future?
My mother-in-law has been diagnosed with Gardner syndrome. How is this syndrome inherited? Is there a genetic test to find out if my wife, and eventually our children, are affected with Gardner syndrome?
How is this syndrome inherited?
Is there a genetic test to find out if my wife are affected with Gardner syndrome?
Is there a genetic test to find out if eventually our children are affected with Gardner syndrome?
My mother-in-law was recently diagnosed with Camurati-Engelmann disease. Can you provide me with information about this condition?
Can you provide me with information about this condition?
My mother is almost blind. Her diagnosis is Bardet-Biedl syndrome. She has no other symptoms besides being almost blind. Is there any cure or treatment for Bardet-Biedl syndrome anywhere in the world? Thank you very much.
Is there any cure for Bardet-Biedl syndrome anywhere in the world?
Is there any treatment for Bardet-Biedl syndrome anywhere in the world?
My mother is Brazilian and she has Chagas Disease. I would like to know if it is genetic and the chance that I or my children may have it.
I would like to know if it is genetic.
I would like to know the chance that I may have it.
I would like to know the chance that my children may have it.
My mother is suffering from systemic mastocytosis. What types of treatment are available for this condition?
What types of treatment are available for this condition?
My mother, sister, and niece have been diagnosed with HNPCC, and I am told it is very likely that I also have HNPCC. I can not find a lot of information on this condition, can you help? What kind of doctor do I need to see? What kind of screening for cancer should I have done?
I can not find a lot of information on this condition, can you help?
What kind of doctor do I need to see?
What kind of screening for cancer should I have done?
My mother was diagnosed with Guillain-Barre syndrome after having a flu shot in 2001. Does this make me more at risk of developing Guillain-Barre syndrome if I have a flu shot?
Does this make me more at risk of developing Guillain-Barre syndrome if I have a flu shot?
My mother was diagnosed with pseudoxanthoma elasticum, but no one in the previous three generations of my father's family have been diagnosed with this condition. Now I have a baby who seems to have lumps which look like pseudoxanthoma elasticum on his neck, but no one in the previous three generations of my husband's family have been diagnosed with this condition. My questions are:1. How can I know whether or not my husband or I are unaffected carriers? What type of blood test do I need to have?2. Several websites say that pseudoxanthoma elasticum is untreatable. Is that true? Can the progression of this condition be slowed down or managed?3. My baby was only 3-4 months old when I saw the yellow lumps on his neck, but I read that the average age for the onset of symptoms is in the teens. Is it possible for a baby to show symptoms?
How can I know whether or not my husband are unaffected carriers?
How can I know whether or not I are unaffected carriers?
What type of blood test do I need to have?
Is that true?
Can the progression of this condition be slowed down?
Can the progression of this condition be managed?
Is it possible for a baby to show symptoms?
My nephew and niece, ages 4 and 1, have been diagnosed with Bloom syndrome very recently. We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any treatment or gene therapy which can be offered now or in the near future. Any help or leads would be highly appreciated.
We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any treatment which can be offered now.
We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any treatment which can be offered in the near future.
We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any gene therapy which can be offered now.
We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any gene therapy which can be offered in the near future.
My nephew has been diagnosed with Beals syndrome (also known as congenital contractural arachnodactyly). Can you provide me with information?
Can you provide me with information?
My nephew has been diagnosed with Budd-Chiari syndrome. What is the treatment for this condition?
What is the treatment for this condition?
My nephew has been diagnosed with Jarcho-Levin syndrome. Do you have information on this condition that I could share with my family?
Do you have information on this condition that I could share with my family?
My nephew has been diagnosed with septo-optic dysplasia. My family is looking for information. Can this condition be cured? Are there any foundations that give support to families that are dealing with this illness. Are there any clinical studies being conducted for septo-optic dysplasia?
Can this condition be cured?
Are there any foundations that give support to families that are dealing with this illness.
Are there any clinical studies being conducted for septo-optic dysplasia?
My nephew has just been diagnosed with Alpers syndrome. The family is devastated. Is there a treatment or cure?
Is there a treatment?
Is there a cure?
My nephew was born with a cleft lip and lip pits but tested negative for van der Woude syndrome. Neither parent has cleft lip, lip pits, or a family history of either. Is it possible that this genetic test is incorrect?
Is it possible that this genetic test is incorrect?
My nephew was diagnosed with hypophosphatemic rickets. He is on calcitriol but is not responding. What causes this, and is there any treatment?
What causes this?
Is there any treatment?
My nephew was diagnosed with Nance-Horan syndrome. He was born with cataracts, supernumerary teeth, and facial dysmorphism. He doesn't have intellectual disabilities. My sister is the carrier and she has some of the characteristics; but much less severe than her son. No other family members have features of the syndrome. Is it possible that the genetic defect started with her? And what are the chances of my sister having a child without the defect? Is it possible to be a carrier and not show any outward signs of the syndrome?
Is it possible that the genetic defect started with her?
What are the chances of my sister having a child without the defect?
Is it possible to be a carrier and not show any outward signs of the syndrome?
My nephew was diagnosed with windblown hand. How is this condition treated? How can I find general information?
How is this condition treated?
How can I find general information?
My newborn baby was diagnosed with galactosemia. Please tell me what I should do.
Please tell me what I should do.
My niece has 2q37 deletion syndrome. I was wondering what causes it and if it can be a hidden trait.
I was wondering what causes it.
I was wondering if it can be a hidden trait.
My niece has been diagnosed with autosomal dominant craniometaphyseal dysplasia. Can you provide information regarding treatment and research ?
Can you provide information regarding treatment?
Can you provide information regarding research?
My niece has been diagnosed with Wiedemann-Rautenstrauch syndrome and I was wondering what is known about the syndrome.
My niece has been diagnosed with Wiedemann-Rautenstrauch syndrome and I was wondering what is known about the syndrome.
My niece was diagnosed with this syndrome. Could you put me in touch with other families who have experience with this syndrome? From the information we found online, I believe that those children are mentally disabled. Could you please confirm that this is true and that ALL the kids with this syndrome will be mentally disabled?
Could you put me in touch with other families who have experience with this syndrome?
Could you please confirm that this is true?
Could you please confirm that ALL the kids with this syndrome will be mentally disabled?
My one year old daughter has been diagnosed with fibrous dysplasia (FD). FD has been found on her left leg in both her tibia and fibula bones. Is there any cure for this condition?
Is there any cure for this condition?
My one year-old daughter was admitted in the hospital because of breathing problems. Her ph level was 6.7 and she was unconscious for eight days. During those days there were many problems. Her doctor said that she had SCOT deficiency OR carnitine palmitoyl transferase 1 deficiency. Now she is normal. Will this happen again?
Will this happen again?
My parter and I are both AS (sickle cell carriers) and we intend to get married. How can we avert giving birth to a SS child? How early can the amniocentesis test be conducted during pregnancy? With the IVF method can the genotype be detected before the woman gets pregnant?
How can we avert giving birth to a SS child?
How early can the amniocentesis test be conducted during pregnancy?
With the IVF method can the genotype be detected before the woman gets pregnant?
My partner and I both have sickle cell trait and are planning to have a baby. During the pregnancy, are there any tests that could tell us whether the baby will have sickle cell anemia? Is there a way to make sure that we do not have a child with the condition?
During the pregnancy, are there any tests that could tell us whether the baby will have sickle cell anemia?
Is there a way to make sure that we do not have a child with the condition?
My partner and I have both been diagnosed with beta-thalassemia minor. What is the likelihood of having a child without beta-thalassemia?
What is the likelihood of having a child without beta-thalassemia?
My partner has been diagnosed with Eales disease. How might this condition be treated?
How might this condition be treated?
My partner is a carrier for Simpson-Golabi-Behmel syndrome and her son was diagnosed with this rare condition. Is there information regarding prognosis or life expectancy for individuals with this syndrome? What are the potential long term effects on cardiac function? Could any heart abnormalities be corrected? How does the genetic mutation cause this condition, and should we expect other body areas to be affected? Also, my partner gets supraventricular tachycardia including atrial fibrillation. Can carriers of SGBS manifest some signs or symptoms of the condition? Can any type of procedure or intervention help my partner's heart issues?
Is there information regarding prognosis for individuals with this syndrome?
Is there information regarding life expectancy for individuals with this syndrome?
What are the potential long term effects on cardiac function?
Could any heart abnormalities be corrected?
How does the genetic mutation cause this condition?
Should we expect other body areas to be affected?
Can carriers of SGBS manifest some signs of the condition?
Can carriers of SGBS manifest some symptoms of the condition?
Can any type of procedure help my partner's heart issues?
Can any type of intervention help my partner's heart issues?
My physician believes that I may have fibromyalgia. Can you provide me with information about this condition?
Can you provide me with information about this condition?
My physician recently mentioned that I may be at risk for Cowden syndrome. What can you tell me about this condition?
What can you tell me about this condition?
My question is in regards to a student who was diagnosed with this condition who is experiencing behavior problems. Is this common for this syndrome, and what recommendations do you suggest if behavioral problems do persist?
Is this common for this syndrome?
What recommendations do you suggest if behavioral problems do persist?
My second daughter, age one year, is affected by Trisomy 21 (Down syndrome). The doctors here say that there is no cure for Down syndrome. Can't the extra chromosome be delinked from other cells? Can't the extra chromosome be deactivated? Please help us, if there is any cure for Down syndrome.
Can't the extra chromosome be delinked from other cells?
Can't the extra chromosome be deactivated?
Please help us, if there is any cure for Down syndrome.
My sister and I have neurofibromas and dermal eccrine cylindromas. Do you have ANY information on these tumors or know where I can get more information?
Do you have ANY information on these tumors?
Do you know where I can get more information?
My sister died of a massive stroke caused by an AVM in her early 60's. Since we had the same parents, what are the chances that I may have this condition? I am experiencing numbness in both arms at night. The numbness wakes me several times a night. Are there any possible connections?
Since we had the same parents, what are the chances that I may have this condition?
Are there any possible connections?
My sister has achondroplasia. There are no other cases in the family. My husband's family does not have a history of achondroplasia. What are the chances of my future children having achondroplasia?
What are the chances of my future children having achondroplasia?
My sister has Arnold Chiari malformation (ACM) and I feel like that might be what's going on with me! Is ACM so rare two sisters couldn't possible have the same conditions?
Is ACM so rare two sisters couldn't possible have the same conditions?
My sister has been diagnosed with acanthocytosis. What is this condition?
What is this condition?
My sister has been diagnosed with myotonic dystrophy and suffers from severe muscle weakness, heart disorders and cataracts. What treatment is available for this condition? Is there research being conducted?
What treatment is available for this condition?
Is there research being conducted?
My sister has Darier disease. Is this condition genetic? Are my children at risk to develop this condition? If so, what can be done to help prevent a flare-up?
Is this condition genetic?
Are my children at risk to develop this condition?
If so, what can be done to help prevent a flare-up?
My sister has Friedreich's ataxia. I am looking for ways to make her life easier. Can you tell me where I can find out about wheelchairs, exercises, and bathroom accomodations? I would also like to connect with people who can help me.
I am looking for ways to make her life easier.
Can you tell me where I can find out about wheelchairs?
Can you tell me where I can find out about exercises?
Can you tell me where I can find out about bathroom accomodations?
I would also like to connect with people who can help me.
My sister has had vulvar leukoplakia for 12 years. The problem remains stable. The infection area does not expand and is difficult to recognize, as it is only 1 cm. Sometimes the area is itching. Could you let us know about treatment methods for this disease? Is surgery needed? Is the disease getting serious?
Could you let us know about treatment methods for this disease?
Is surgery needed?
Is the disease getting serious?
My sister has retinitis pigmentosa. Can this condition be cured?
Can this condition be cured?
My sister has two children that have been diagnosed with Wolf-Hirschhorn Syndrome. How common is it for a person to have more than one child with the syndrome? I am interested in getting a genetic test to see if I am a carrier. Will the test be covered by my insurance? How much do they generally cost?
How common is it for a person to have more than one child with the syndrome?
Will the test be covered by my insurance?
How much do they generally cost?
My sister has Williams syndrome and I am concerned about my chances to have a child with this condition. Is Williams syndrome inherited? Are there any ways to prevent Williams syndrome?
Is Williams syndrome inherited?
Are there any ways to prevent Williams syndrome?
My sister-in-law was diagnosed with Susac syndrome last year. She is currently receiving chemotherapy and IVIG treatments. Are there any other forms of treatment available?
Are there any other forms of treatment available?
My sister passed away several years ago from complications of Gaucher disease. She was petite in build and darker skinned than any of her siblings who had much lighter complexions and stockier builds. Would these differences have been due to Gaucher disease?
Would these differences have been due to Gaucher disease?
My sister recently passed away from Waterhouse–Friderichsen syndrome. Can you help me find information about this condition?
Can you help me find information about this condition?
My sister's daughter (my niece) recently had a baby and he was diagnosed with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. If this condition is traced back to my sister, is it important for me and/or my children (ages 8 and 11) to be tested?
If this condition is traced back to my sister, is it important for me to be tested?
If this condition is traced back to my sister, is it important for my children (ages 8 to be tested?
If this condition is traced back to my sister, is it important for 11) to be tested?
My sister's son has been diagnosed with juvenile retinoschisis, and she has been told she is a carrier. What is the risk that I am a carrier and that my son has this condition?
What is the risk that I am a carrier?
What is the risk that my son has this condition?
My sister was recently diagnosed with Horner syndrome. Last year I was diagnosed with cluster headaches. Are these two condition related?
Are these two condition related?
My son, 9 years old, has been diagnosed with this condition and I am looking for general information on incidence, prognosis and treatment. Thank you.
My son, 9 years old, has been diagnosed with this condition and I am looking for general information on incidence.
My son, 9 years old, has been diagnosed with this condition and I am looking for general information on prognosis.
My son, 9 years old, has been diagnosed with this condition and I am looking for general information on treatment.
My son and daughter-in-law recently lost a baby boy to ornithine transcarbamylase (OTC) deficiency. My daughter-in-law has been identified as a carrier. Is it possible for carrier females to have a healthy baby?
Is it possible for carrier females to have a healthy baby?
My son developed dark spots when he was one and half years old. Lichen planus pigmentosa was confimed by biopsy. I am not treating his condition with medication. Is it possible for him to overcome this condition by himself? How long will it take?
Is it possible for him to overcome this condition by himself?
How long will it take?
My son had limb body-wall complex. I gave birth over 2.5 years ago.There is not a lot of information on the condition. Could you please send me some information?
Could you please send me some information?
My son has 22q11.2 deletion syndrome (velocardiofacial syndrome) and was recently diagnosed with thyroid problems. He was treated with calcium. Why? Since he started his calcium he has been having seizures that seem to be triggered by intense emotion. Why? Does his condition affect his central nervous system? How can we treat his seizures? Now that he has seizures could he be classified as having a condition other than 22q11.2 syndrome, such as hypoparathyroidism retardation dysmorpha syndrome? What is this syndrome?
Why?
Why?
Does his condition affect his central nervous system?
How can we treat his seizures?
Now that he has seizures could he be classified as having a condition other than 22q11.2 syndrome?
Now that he has seizures could he be classified as having a condition other than 22q11.2 syndrome, such as hypoparathyroidism retardation dysmorpha syndrome?
What is this syndrome?
My son has achondroplasia. He can sit up without support, but he does not walk, talk, or interact much with his surrounding environment. I have seen many specialists in my country. I am worried about his delays. Most doctors have recommended that I watch and wait. I would like to learn more about langauge and motor development in children with achondroplasia. How are infants and children with achondroplasia treated?
I would like to learn more about langauge development in children with achondroplasia.
I would like to learn more about motor development in children with achondroplasia.
How are infants with achondroplasia treated?
How are children with achondroplasia treated?
My son has amelogenesis imperfecta. Our insurance company has requested proof that this is a medical condition. Can you provide me with information on this topic?
Can you provide me with information on this topic?
My son has been diagnosed with a desmoplastic infantile ganglioma? Could you tell me more about this tumor.
Could you tell me more about this tumor.
My son has been diagnosed with Adie syndrome. Can this condition be cured? How might it be treated?
Can this condition be cured?
How might it be treated?
My son has been diagnosed with Freiberg's disease. Is this condition easy to diagnose? Can an individual with this condition continue to play sports and participate in physical activities? How is it treated?
Is this condition easy to diagnose?
Can an individual with this condition continue to play sports?
Can an individual with this condition continue to participate in physical activities?
How is it treated?
My son has been diagnosed with GM1 gangliosidosis. Please tell me more about this condition.
Please tell me more about this condition.
My son has been diagnosed with GSD type 3 based on liver biopsy. Is there another test to confirm this diagnosis? Are there any treatments available?
Is there another test to confirm this diagnosis?
Are there any treatments available?
My son has been diagnosed with Jarcho-Levin syndrome. How can I ensure a long, healthy life for him?
How can I ensure a long life for him?
How can I ensure a healthy life for him?
My son has been diagnosed with MECP2 duplication syndrome. What are the symptoms of this condition? Is there treatment? What is the prognosis for individuals with this condition?
What are the symptoms of this condition?
Is there treatment?
What is the prognosis for individuals with this condition?
My son has been diagnosed with phacomatosis pigmentovascularis. Can you provide me with further information on this condition?
Can you provide me with further information on this condition?
My son has been diagnosed with this. He has failure to thrive. Are people with this disorder smaller and below their expected percentile?
Are people with this disorder smaller?
Are people with this disorder below their expected percentile?
My son has been diagnosed with Wolff Parkinson White syndrome. Should other members of my family be tested for this condition?
Should other members of my family be tested for this condition?
My son has been diagnose with acute pancreatitis. Please help me find more information, treatment, and medication.
Please help me find more information.
Please help me find more treatment.
Please help me find more medication.
My son has been found to carry a single familial Mediterranean fever (FMF) gene mutation. Could he still have FMF?
Could he still have FMF?
My son has frequent ketosis and occasional ketoacidosis. He has a diagnosis of ketotic hypoglycemia, but seems to have a lot of non-fasting ketotic vomiting episodes. I believe that he may have SCOT deficiency. Would SCOT deficiency cause abnormal amino acid, organic acid or carnitine results? If not, what type of lab work would support a diagnosis of this deficiency? How is the diagnosis of SCOT deficiency confirmed? What kind of lab results would you expect from a patient with SCOT deficiency while they are in crisis? How common is SCOT deficiency? How can I find a doctor or clinic that is familiar with this deficiency?
Would SCOT deficiency cause abnormal amino acid?
Would SCOT deficiency cause abnormal organic acid?
Would SCOT deficiency cause abnormal carnitine results?
If not, what type of lab work would support a diagnosis of this deficiency?
How is the diagnosis of SCOT deficiency confirmed?
What kind of lab results would you expect from a patient with SCOT deficiency while they are in crisis?
How common is SCOT deficiency?
How can I find a doctor that is familiar with this deficiency?
How can I find a clinic that is familiar with this deficiency?
My son has hypophosphatemic rickets and frequently develops abscesses in his mouth. Our doctor believes this is due to the weakened bones caused by this condition. Can you give me more information on this?
Can you give me more information on this?
My son has Kartagener syndrome and is having several medical problems. I need to know as much as possible about this condition.
I need to know as much as possible about this condition.
My son has Klinefelter syndrome. I am aware that he may need testosterone replacement therapy (TRT) when he reaches puberty. For how long is TRT usually done?
For how long is TRT usually done?
My son has Marshall syndrome. Years ago, they stated that life expectency was late teens to early twenties, but now I can't seem to find any such information. Could you possibly clarify this?
Could you possibly clarify this?
My son has MPS IIIB, and I would like to know if there is any current research or clinical trials for this condition. This seems to be a rare disease that is also ‘rare’ in research and so it has been very difficult to obtain any treatment for my son. Are you able to help?
My son has MPS IIIB, and I would like to know if there is any current research for this condition.
My son has MPS IIIB, and I would like to know if there is any clinical trials for this condition.
Are you able to help?
My son has nephrocalcinosis. Could you please tell me about it? Is it genetic? How might it be treated?
Could you please tell me about it?
Is it genetic?
How might it be treated?
My son has NKH and is my first born child. What is the chance my next child will have NKH if he has a different father?
What is the chance my next child will have NKH if he has a different father?
My son has suffered meconium aspiration syndrome. What causes this condition?
What causes this condition?
My son has Tourette syndrome and in my country, Peru, there is little information about treatment. Could you please provide some information?
Could you please provide some information?
My son has type 1 plasminogen deficiency and currently has been diagnosed with ligneous conjunctivitis. Please provide any and all information that you have with respect to this disease.
Please provide any information that you have with respect to this disease.
Please provide all information that you have with respect to this disease.
My son has what the doctor is calling fibromas on his legs that have been growing for about 2 years. Both legs have huge tumors on them and growing all the time. My son has been diagnosed with neurofibromatosis. My understanding is that there is no cure?
My understanding is that there is no cure?
My son is 18 days old and has been diagnosed with tyrosinemia type 1. Is there any hope of curing my son's illness?
Is there any hope of curing my son's illness?
My son is 5 years old and has triple A syndrome. He has Addison's and alacrima, and we want to know if it is likely he will develop achalasia. What are the neurological effects of triple A syndrome and when could they affect him?
He has Addison's and alacrima, and we want to know if it is likely he will develop achalasia.
What are the neurological effects of triple A syndrome?
When could they affect him?
My son may have carnitine-acylcarnitine translocase deficiency. Can you provide me with information about this condition?
Can you provide me with information about this condition?
My son presented with a sudden onset of partial complex seizures and a friend provided us with information about neurocysticercosis. My son has not yet been tested, but I would like to know if this disease has an affect on a person's appetite or weight?
My son has not yet been tested, but I would like to know if this disease has an affect on a person's appetite?
My son has not yet been tested, but I would like to know if this disease has an affect on a person's weight?
My son suffers from recurrent aphthous stomatitis or Sutton disease 2. It took us 20 months to be given this diagnosis. I searched for diagnosis on the web site but did not find any information. Is there any information about Sutton disease 2 that I am somehow missing I am trying to become educated about his disease.
Is there any information about Sutton disease 2 that I am somehow missing I am trying to become educated about his disease.
My son suffers from Rubinstein-Taybi syndrome. Over the past year he has developed tremors affecting both upper extremities. I am wondering if there is a known cause associated with the disorder. My research seems to indicate there may be but I cannot find anything definitive.
I am wondering if there is a known cause associated with the disorder.
My son was born with aplasia cutis congenita. He is now one year old and the spot on his head is about 4 inches long and 1/2 inch wide. As his head grows, the lesion continues to get bigger. His dermatologist has prescribed a skin cream to keep it moist, but my son continues to scratch it open daily. My son's doctor says that there is nothing that can be done until he is a teenager when a portion of the membrane can be removed and his scalp can be stitched together. I can't see waiting that long without a better recommendation. What treatment options are available?
What treatment options are available?
My son was born with a vascular lesion in the right groin area. A biopsy of the lesion suggested it is likely to be a non-involuting congenital hemangioma (NICH), but there is a possibility it is a kaposiform hemangioendothelioma. I would like to know why it has not been possible to determine which of the two it actually is and why surgical excision will be necessary in the future.
I would like to know why it has not been possible to determine which of the two it actually is.
I would like to know why surgical excision will be necessary in the future.
My son was born with clefts in both of his feet. Is there any surgical solution to his condition?
Is there any surgical solution to his condition?
My son was born with cutis aplasia congenita. He had two midline spots on his scalp, one spot was 11mm in diameter and the other spot was 13 mm. They have finally healed now and it took about 2 months. I was wondering if there is any research out there for a cause or if it is known what causes it. I have taken him to four different doctors who have never seen it before and don't have a lot of information on it. He did have genetic testing done at birth which all came back normal.
I was wondering if there is any research out there for a cause.
I was wondering if it is known what causes it.
My son was diagnosed with a laryngeal cleft 4 months ago and I can't find much information about this condition. Everything I read is from a medical journal. I'm just looking for more information about laryngeal cleft.
I'm just looking for more information about laryngeal cleft.
My son was diagnosed with alpha-thalassemia x-linked intellectual disability syndrome. The questions I have relate to other members of the family. I have a sister who has children. I understand that if my sister has the mutation, there is a chance that she passed it to her daughter, who would then be a carrier. But the literature I have read isn't completely clear regarding boys. If my sister carries the mutation, could she have passed it to her son and could her son be an unaffected carrier of the mutation?
If my sister carries the mutation, could she have passed it to her son?
If my sister carries the mutation, could her son be an unaffected carrier of the mutation?
My son was diagnosed with Beckwidth Weidemann syndrome. I would like to know if hemihypertrophy always happens? If not, what percentage of patients does it affect? What urological symptoms are associated with Beckwidth Weidemann syndrome? Does having urinary obstruction increase a person with this syndrome's risk for developing Wilms' tumor? What is the risk for Wilms tumor and what kind of surveillance is needed?
I would like to know if hemihypertrophy always happens?
If not, what percentage of patients does it affect?
What urological symptoms are associated with Beckwidth Weidemann syndrome?
Does having urinary obstruction increase a person with this syndrome's risk for developing Wilms' tumor?
What is the risk for Wilms tumor?
What kind of surveillance is needed?
My son was diagnosed with cheilitis glandularis. Is this curable, or are the symptoms curable? How close is this to angular cheilitis? Is there any other condition that this could be mistaken for?
Is this curable?
Are the symptoms curable?
How close is this to angular cheilitis?
Is there any other condition that this could be mistaken for?
My son was diagnosed with isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) at birth. He is 7 months old and very healthy with no signs or symptoms. He is being followed by a specialist, gets regular blood tests, and follows a special diet. Will this condition be with him for the rest of his life? Is there anything that we can do for him?
Will this condition be with him for the rest of his life?
Is there anything that we can do for him?
My son was diagnosed with neonatal diabetes mellitus. He is 15 days old and we are not sure if this is permanent or transient. I want to know what the lifespan is of babies with this illness. Also how can we find out if this diabetes is transient or permanent?
I want to know what the lifespan is of babies with this illness.
How can we find out if this diabetes is transient or permanent?
My son was diagnosed with NF1. At birth, doctors noticed his neck was shorter and his eyes and ears where tilted a bit. They ran some test and discovered that he is missing the whole gene instead of it just being mutated. His genetic doctor said he's never really seen this before and can't really tell me much about how it's going to affect my son. I was just wondering if you had any information on this gene being completely missing.
I was just wondering if you had any information on this gene being completely missing.
My son was diagnosed with Opitz G/BBB syndrome and I was wondering if you can provide any information about this syndrome. I would like to have a full understanding of my son and his condition.
My son was diagnosed with Opitz G/BBB syndrome and I was wondering if you can provide any information about this syndrome.
My son was diagnosed with osteogenesis imperfecta type 6 and I would like to know more information about this condition.
My son was diagnosed with osteogenesis imperfecta type 6 and I would like to know more information about this condition.
My son was diagnosed with pyruvate kinase deficiency when he was a baby. My husband and I were tested and are negative for being carriers. Could you tell me what else could cause pyruvate kinase deficiency?
Could you tell me what else could cause pyruvate kinase deficiency?
My son was diagnosed with this last year. He has had multiple vaccinations. What are the actual numbers of how many Americans have this? Is there any work being done on finding a cure? Are there any ongoing studies? I know a little girl who has the same thing and she has had problems with her urinary tract but my son only had problems with his ears, nose and throat. Are these differences common? Any information would be greatly appreciated. Its very frustrating having so many questions and not many answers.
What are the actual numbers of how many Americans have this?
Is there any work being done on finding a cure?
Are there any ongoing studies?
Are these differences common?
Any information would be greatly appreciated.
My son was recently diagnosed with Horner syndrome. Is it possible that he got this after having his neck and back aligned by a chiropractor? Also as a parent is there anything I should be concerned about? Do you recommend any restrictions to his playing high school sports?
Is it possible that he got this after having his neck and back aligned by a chiropractor?
As a parent is there anything I should be concerned about?
Do you recommend any restrictions to his playing high school sports?
My son was recently diagnosed with hyper IgM syndrome. What information can you provide about this condition?
What information can you provide about this condition?
My son was recently diagnosed with primary hyperoxaluria type 2. Is this something that he can eventually outgrow? Can his liver repair itself and begin producing the missing enzyme? If not, is there any chance of him leading a full life or will he develop end stage renal disease before he has a chance to get old and gray?
Is this something that he can eventually outgrow?
Can his liver repair itself and begin producing the missing enzyme?
If not, is there any chance of him leading a full life or will he develop end stage renal disease before he has a chance to get old and gray?
My son, who will be 13 years old in July, has West syndrome. I would like to find a doctor in my area who specializes in this condition. Any help would be appreciated. Thank you.
I would like to find a doctor in my area who specializes in this condition.
My stepdaughter has Turner syndrome. I was wondering if her mother or father carries the gene that causes this disease? Would a blood test from her father indicate if it came from his side of the family?
I was wondering if her mother carries the gene that causes this disease?
I was wondering if her father carries the gene that causes this disease?
Would a blood test from her father indicate if it came from his side of the family?
My step-daughter was diagnosed with Alexander Disease less than a year ago. She is 2 years old. We were recently told that the disease is spreading to her pituitary gland. What impact will this have on the progression of the disease?
What impact will this have on the progression of the disease?
My teenage daughter has Waardenburg syndrome. Recently she has developed body hair on her chest and upper lip. Her eyebrows are also growing together. Is this due to Waardenburg syndrome?
Is this due to Waardenburg syndrome?
My teenage son has been diagnosed with Lubs X-linked mental retardation. What can you tell me about this condition?
What can you tell me about this condition?
My toddler daughter has been diagnosed with Langerhans cell histiocytosis. I'd like to learn as much as possible about the condition.
I'd like to learn as much as possible about the condition.
My two girls have WHIMS and I need to know what kind of treatment they can get. We're willing to travel to seek treatment. Their WBC counts are 100-300. One has warts on her foot and the other has about 100 warts on each hand.
My two girls have WHIMS and I need to know what kind of treatment they can get.
My two year-old daughter has the symptoms of Cohen syndrome. Could you please provide me with information about how this condition might be treated and what the prognosis is for individuals with it?
Could you please provide me with information about how this condition might be treated?
Could you please provide me with information about what the prognosis is for individuals with it?
My uncle has had pure red cell aplasia for almost three years. About two years ago the hospital in my home town would not treat him anymore because they thought it was impossible to cure him. My mother transferred him to a bigger hospital in another city. Now he is taking medications for a very long time but his hemoglobin never goes up. The hospital said there is nothing to do if those medications don't work. My whole family is hopeless again now. Could you please help my uncle? He is only forty years old.
Could you please help my uncle?
My uncle, my brother, and one of my brother's sons have testotoxicosis. My son is also affected. I took my son to an endocrinologist and he treated my son with ketoconazole. Treatment was stopped when my son was 11 years old. He continued to grow until the age of 13. Now he is 14 and is 5'7". We are in the process of going back to the doctor that treated my son to get an x-ray of his hand to see if the growth plates have grown together. Has ketoconazole been proven to work successfully in boys with testotoxicosis?
Has ketoconazole been proven to work successfully in boys with testotoxicosis?
My wife and I had a child born with trisomy 17 mosaicism. Since then, we have had two healthy children. What is known about this chromosomal abnormality? I can't seem to find any information that is easy to read or find. When our child was born about 20 years ago, we where told that there had only been 7 live births and none had lived past 4 years of age.
What is known about this chromosomal abnormality?
My wife had a breast reduction to cure gigantomastia. But after a year, the ailment recurred. What treatment options might be available for her now?
What treatment options might be available for her now?
My wife has been diagnosed with goblet cell carcinoma of the appendix. I am very concerned and can't find much information. Can you help? How can I find a specialist?
Can you help?
How can I find a specialist?
My wife has been diagnosed with MBL deficiency. Can you provide us with information on this condition?
Can you provide us with information on this condition?
My wife has Charcot-Marie-Tooth disease type 2C. What is the prognosis for individuals with this condition?
What is the prognosis for individuals with this condition?
My wife is showing many symptoms of this disease and is a confirmed carrier. Is it possible that she has it?
Is it possible that she has it?
My wife was diagnosed by MRI with probable myxopapillary ependymoma. The specialist is recommending surgery; are there any other treatment options?
The specialist is recommending surgery; are there any other treatment options?
My wife was diagnosed with a cyst on her pineal gland. We have been researching information and have seen both good and bad things. She's had two MRIs and bloodwork done, and the doctors believe it's benign. What else can we do?
What else can we do?
My wife was diagnosed with relapsing polychondritis over 6 years ago. Her ear flares up about 2-3 times a year. In the beginning it went away on its own; now she takes prednisone but only during the flare. Our doctor says the next step would be methotrexate but before that she'd be on daily prednisone. The disease doesn't seem to be progressing and CT and PET scans indicate no other damage. Is there something more we should be doing such as diet supplements or other medications? Are there other things we should be watching for?
Is there something more we should be doing?
Is there something more we should be doing such as diet supplements?
Is there something more we should be doing such as other medications?
Are there other things we should be watching for?
My wife was recently diagnosed with idiopathic pulmonary fibrosis. She is being treated with N-Acetylcysteine, an anti-oxidant supplement. Is there a newer therapy or treatment for this condition?
Is there a newer therapy for this condition?
Is there a newer treatment for this condition?
My young daughter has a rare genetic condition called diploid-triploid mosaicism. I am looking for any and all available information about this disorder. It is very rare and therefore it is very hard to find information that is of much use. Anything will help at this point.
I am looking for any available information about this disorder.
I am looking for all available information about this disorder.
My younger brother was recently diagnosed with hypereosinophilic (HES) syndrome. I would like to know if this condition has a genetic element.
I would like to know if this condition has a genetic element.
My younger son has Johanson Blizzard syndrome. He has arrested growth, hearing loss, some teeth disappearance and pancreatic insufficiency. He was also diagnosed with pure red cell aplasia. How can we help pancreatic insufficiency, which helps with growth? Is there any help for hearing impairment?
How can we help pancreatic insufficiency, which helps with growth?
Is there any help for hearing impairment?
Once an individual with pars planitis loses vision, can they get it back? And what are the different surgeries that can treat pars planitis?
Once an individual with pars planitis loses vision, can they get it back?
What are the different surgeries that can treat pars planitis?
Once someone has this condition, is there anything that can be done to correct the problems caused by the genetic mutation?
Once someone has this condition, is there anything that can be done to correct the problems caused by the genetic mutation?
One of my infant twins has been diagnosed with citrullinemia. Her ammonia level was very high. Do children with this condition recover from the high levels of ammonia? How is this condition treated?
Do children with this condition recover from the high levels of ammonia?
How is this condition treated?
One of my relatives was diagnosed with acute disseminated encephalomyelitis in 1997. Due to poor medical care, he has not received consistent treatment and his health has deteriorated over the years. He is now completely paralyzed. Is it too late for treatment to be effective? What is the prognosis for an individual who has not been treated promptly?
Is it too late for treatment to be effective?
What is the prognosis for an individual who has not been treated promptly?
Our 34-year-old son was diagnosed with congenital bilateral absence of the vas deferens (CBAVD) resulting from the CFTR mutation. We also have another 31-year-old son and are concerned that he might be affected as well. Is either myself or my husband a carrier? Should we seek medical advice regarding these possibilities?
Is myself a carrier?
Is my husband a carrier?
Should we seek medical advice regarding these possibilities?
Our 7 year old is having bulbar symptoms. Can you provide us with information about Fazio Londe syndrome?
Can you provide us with information about Fazio Londe syndrome?
Our daughter-in-law has Castleman's and our granddaughter is now hospitalized with symptoms that are consistent with what we have read about Castleman's. I am asking if it is a hereditary disease.
I am asking if it is a hereditary disease.
Our daughter was recently diagnosed with mosaic trisomy 2. Since birth she has always had an undiagnosed syndrome. We felt relieved that we finally knew what she was born with but we have not been able to find any information about it. What can you provide us?
What can you provide us?
Our first born child had jejunal artresia. What are the chances of any further children we may have suffering from the same condition?
What are the chances of any further children we may have suffering from the same condition?
Our grandson was diagnosed recently with this disease and I am wondering if you could send me information on it. As his grandmother, I would like to know what are the health risks down the road for him and how we can help him live with this disease.
Our grandson was diagnosed recently with this disease and I am wondering if you could send me information on it.
As his grandmother, I would like to know what are the health risks down the road for him.
As his grandmother, I would like to know how we can help him live with this disease.
Our son has had surgery and a tumor was found on the right colon. It was removed and first thought to be a gastrointestinal stromal tumor (GIST), but because of CD117 and CD34 testing we were told it was leiomyosarcoma. We have been to 2 oncologists, one says chemo and the other says chemo is not effective for this type. We are totally confused.
We are totally confused.
Please could you send me any information you have on Filippi syndrome or let me know where I can obtain information on it? Are there any support groups for people with this condition?
Please could you send me any information you have on Filippi syndrome?
Please could you let me know where I can obtain information on it?
Are there any support groups for people with this condition?
Please help me understand fetal and neonatal alloimmune thrombocytopenia and what might happen in future pregnancies.
Please help me understand fetal.
Please help me understand neonatal alloimmune thrombocytopenia.
Please help me understand what might happen in future pregnancies.
Please provide information about deafness, progressive with stapes fixation (Thies Reis syndrome), including symptoms, causes, treatment and prognosis.
Please provide information about deafness, progressive with stapes fixation (Thies Reis syndrome).
Please provide information about deafness, progressive with stapes fixation (Thies Reis syndrome), including symptoms.
Please provide information about deafness, progressive with stapes fixation (Thies Reis syndrome), including causes.
Please provide information about deafness, progressive with stapes fixation (Thies Reis syndrome), including treatment.
Please provide information about deafness, progressive with stapes fixation (Thies Reis syndrome), including prognosis.
Please provide me with information and supportive resources for HERNS. I have loved ones with this condition and need help finding information and support.
Please provide me with information for HERNS.
Please provide me with supportive resources for HERNS.
I have loved ones with this condition and need help finding information.
I have loved ones with this condition and need help finding support.
Please send me any information regarding treatment and/or clinical trials for this rare disease.
Please send me any information regarding treatment for this rare disease.
Please send me any information regarding clinical trials for this rare disease.
Please send me any information you have regarding lipodermatosclerosis. The physicians in my area do not know how to treat my condition. The pain is getting unbearable at times and I am looking for any kind of treatments that may help my condition.
Please send me any information you have regarding lipodermatosclerosis.
The pain is getting unbearable at times and I am looking for any kind of treatments that may help my condition.
Please send me information on Von Hippel Lindau disease. I have high blood pressure, severe headaches, dizziness, and quick to anger. After reading information on the Internet, I believe my symptoms might be explainded by VHL disease.
Please send me information on Von Hippel Lindau disease.
Please send us literature regarding SHORT syndrome. I am writing on behalf of a neighbor whose three children might have the syndrome. They are undergoing tests right now. She is at a loss and having a hard time coping.
Please send us literature regarding SHORT syndrome.
Please tell me something about this. Is it life threatening? My nephew has been diagnosed with this. He works in a nursing home. Had 2 ear infections, pus in his eyes, a cough, orange urine, and fatigue.
Please tell me something about this.
Is it life threatening?
Please tell me what you know about Marchiafava Bignami disease. I was diagnosed with this disease after presenting not with alcoholism, but with malnutrition (thiamine deficiency), dementia and memory loss. Where can I find information and answers regarding this disease and its occurrence with a similar presentation?
Please tell me what you know about Marchiafava Bignami disease.
Where can I find information regarding this disease?
Where can I find information regarding its occurrence with a similar presentation?
Where can I find answers regarding this disease?
Where can I find answers regarding its occurrence with a similar presentation?
Several members of my husband's family are carriers of Duchenne and Becker muscular dystrophy. My husband does not have the disease. What are the chances of passing on this condition to any children we may have?
What are the chances of passing on this condition to any children we may have?
Since my daughter passed from HEM, I have checked the leading publications for news of Greenburg's dysplasia. I am both happy and perplexed at the lack of mention. Are there truly only a handful of cases? Has this horrible condition not captured the eye of the research community? I was told that my daughter's death (after three weeks in the NICU) was due to this extraordinary mutation, and that her survival (although short) was beyond expectation. I am desperately looking for more information. Both my husband and I are carriers for the mutation and have many siblings. Our siblings have concerns over the prevalence of this mutation. I am not a medical professional. I would appreciate any response in "layman's terms" please.
Are there truly only a handful of cases?
Has this horrible condition not captured the eye of the research community?
I am desperately looking for more information.
Since Usher syndrome is a ciliopathy, will my daughter who has it exhibit symptoms of other ciliopathies? She has many chronic health problems including irregular menstrual cycles, migraine headaches, and obesity.
Since Usher syndrome is a ciliopathy, will my daughter who has it exhibit symptoms of other ciliopathies?
The child of a good friend has been diagnosed with glutaric acidemia type II. Can this condition be cured at present? If not, what kind of measures should we take to keep the child in good health?
Can this condition be cured at present?
If not, what kind of measures should we take to keep the child in good health?
The doctor told me I have SIADH or syndrome of inappropriate antidiuretic hormone. I would like to know more about it.
I would like to know more about it.
The father of my children has been diagnosed with Fahr's disease. I am concerned for him and my children. I would like to learn more about this condition and how we might be able to help him.
I would like to learn more about this condition.
I would like to learn more about how we might be able to help him.
The father of my children lost his life after a short battle with colon cancer. Several members of his family had various other types of cancer. I would like to help my children prevent the development of cancer. What are the symptoms of familial adenomatoous polyposis (FAP)? What steps can we take to be better prepared for this disease? Who can help us with this endeavor?
What are the symptoms of familial adenomatoous polyposis (FAP)?
What steps can we take to be better prepared for this disease?
Who can help us with this endeavor?
The information I have read said that most infections occur in younger people. I have not had any major problems until now at 56 years of age. Should I be under a doctors care regularly? Am I a candidate for disability?
Should I be under a doctors care regularly?
Am I a candidate for disability?
There is a history of Pelizaeus-Merzbacher disease in my family. I would like to learn more about this condition, including it's causes, symptoms, treatment and prognosis.
I would like to learn more about this condition.
I would like to learn more about this condition, including it's causes.
I would like to learn more about this condition, including it's symptoms.
I would like to learn more about this condition, including it's treatment.
I would like to learn more about this condition, including it's prognosis.
There is limited information and resources on myelomeningocele where we live. I am concerned that my daughter isn't receiving the appropriate care. How is this condition usually treated?
How is this condition usually treated?
There seems to be limited material available pertaining to FACES syndrome. Could you please provide me some information? Thank you.
Could you please provide me some information?
The woman I would like to marry has a family history of Parkinson disease. How is this condition inherited? How is it diagnosed? Is genetic testing available?
How is this condition inherited?
How is it diagnosed?
Is genetic testing available?
They have diagnosed my niece with Salla disease. I understand that this is a very rare disease and that its main origin is Finland. Can you please let me know the life expectancy and quality of life we can expect? My niece is 7 years old. It has taken them 6 years to finally come up with this diagnosis.
Can you please let me know the life expectancy we can expect?
Can you please let me know the quality of life we can expect?
Three of my children have been diagnosed with Weill-Marchesani syndrome. Can you please provide me with information about this rare disease?
Can you please provide me with information about this rare disease?
Three siblings were admitted to the hospital because of cirrhosis, mental retardation, and retinal malformations. Do these individuals have COACH syndrome?
Do these individuals have COACH syndrome?
Three years ago, I was diagnosed with "Clivus of Chordoma." Since then, I have had four surgeries to remove as much of the tumor as possible, and I also went through a rigorous radiation therapy treatment program to shrink what was left of the tumor after the surgeries. I would like any information you might have on this type of tumor.
I would like any information you might have on this type of tumor.
Two members of my immediate family died at birth as a result of arthrogryposis. Is this condition inherited? Can I have genetic testing done to determine my risk to have children with this condition?
Is this condition inherited?
Can I have genetic testing done to determine my risk to have children with this condition?
Two questions if I may: Is there any know medications or treatment that can be used for this condition? What can the life expectancy be?
Two questions if I may: Is there any know medications that can be used for this condition?
Two questions if I may: Is there any know treatment that can be used for this condition?
What can the life expectancy be?
Two years ago I was diagnosed with X-linked myopathy with excessive autophagy. My concern is ensuring that this disease is not going to effect my heart or lungs. There is also no information on how to deal with this disease. I have always been active in sports and weight lifting all my life. Going up stairs and getting out of chairs continues to be more difficult. I read articles about what the problems will be - but I read nothing as to what I can do to make my life and pain more manageable. Has anyone with this condition ever had heart issues?
Has anyone with this condition ever had heart issues?
Unknowingly I contracted histoplasmosis related fibrosing mediastinitis in my youth. The calcium scarring has asymptomatically over-grown my superior vena cava completely occluding it. Can I become re-infected by another encounter with H. capsulatum fungus? Are my prodigy at higher risk of contracting fibrosing mediastinitis? Is there a genetic component?
Can I become re-infected by another encounter with H. capsulatum fungus?
Are my prodigy at higher risk of contracting fibrosing mediastinitis?
Is there a genetic component?
We found out my cousin has metachromatic leukodystrophy about 8 months ago. He has the adult form. He was having some problems about a year before we found out. I was wondering how long he might have to live and how bad the disease will get over time.
I was wondering how long he might have to live.
I was wondering how bad the disease will get over time.
We have a 2-year-old son who was diagnosed with Angelman syndrome. He has a deletion of the mother's part on chromosome 15. What are the chances of this syndrome occurring in our next baby? We have another 6-year-old son who is normal.
What are the chances of this syndrome occurring in our next baby?
We have been told that my newborn grandson has been classified as a carrier for cystic fibrosis. I know that if both parents have the defective gene, the child has a 25 percent chance of actually getting CF, and a 50 percent chance of being a carrier. My question is, can the child be a carrier if only one parent has the defective gene? Thank you.
My question is, can the child be a carrier if only one parent has the defective gene?
We have just been told that our 2.5 year old grandson has Klinefelter syndrome. We know very little about this condition and how it will affect him and his family in the future. Where can we find additional information? How can we find a health professional to discuss this in more detail?
Where can we find additional information?
How can we find a health professional to discuss this in more detail?
We have two children with Sjogren-Larsson syndrome. Is there treatment?
Is there treatment?
We just found out that our grandson has 48,XXYY syndrome. We have an appointment with genetic doctors in a couple of weeks. I was wondering if you could give us some information on what to expect and the prognosis for this and what we have to look forward to with him.
I was wondering if you could give us some information on what to expect.
I was wondering if you could give us some information on the prognosis for this.
I was wondering if you could give us some information on what we have to look forward to with him.
We recently lost a colleague to Familial Mediterranean Fever. Are his siblings at risk to have inherited this condition? Is genetic testing available to individuals at risk?
Are his siblings at risk to have inherited this condition?
Is genetic testing available to individuals at risk?
We work in Social Services and have recently had a child diagnosed with MOMO syndrome. Do you know if this is a life-limiting condition and if so, how?
Do you know if this is a life-limiting condition?
If so, how?
What about siblings of people with Bardet-Biedl syndrome?
What about siblings of people with Bardet-Biedl syndrome?
What are other issues that might come up as our son grows up with Leber congenital amaurosis?
What are other issues that might come up as our son grows up with Leber congenital amaurosis?
What are risk factors for AL amyloidosis?
What are risk factors for AL amyloidosis?
What are some of the signs or symptoms associated with trisomy 18p? What are some of the behavioural characteristics of this syndrome if any? What are some treatment options for an adolescent with this syndrome, ASD (autism spectrum disorder), and no intellectual disability displaying challenging behaviours?
What are some of the signs associated with trisomy 18p?
What are some of the symptoms associated with trisomy 18p?
What are some of the behavioural characteristics of this syndrome if any?
What are some treatment options for an adolescent with this syndrome, ASD (autism spectrum disorder), and no intellectual disability displaying challenging behaviours?
What are the chances of having alpha 1-antitrypsin deficiency and panniculitis?
What are the chances of having alpha 1-antitrypsin deficiency and panniculitis?
What are the chances of having a normal baby after having a baby diagnosed with Fryns syndrome?
What are the chances of having a normal baby after having a baby diagnosed with Fryns syndrome?
What are the chances of passing osteogenesis imperfecta on to a child while pregnant? Can a vaginal delivery be perfomed or will a C-section be necessary?
What are the chances of passing osteogenesis imperfecta on to a child while pregnant?
Can a vaginal delivery be perfomed or will a C-section be necessary?
What are the common symptoms of complex regional pain syndrome?
What are the common symptoms of complex regional pain syndrome?
What are the current genetic tests for cystic fibrosis? How much do they cost?
What are the current genetic tests for cystic fibrosis?
How much do they cost?
What are the dietary recommendations for individuals with Barrett syndrome?
What are the dietary recommendations for individuals with Barrett syndrome?
What are the early signs of cancer of the vulva if my sister has had leukoplakia there for 12 years? Is biopsy necessary? Is there any medication for treatment of non-cancerous vulvar leukoplakia?
What are the early signs of cancer of the vulva if my sister has had leukoplakia there for 12 years?
Is biopsy necessary?
Is there any medication for treatment of non-cancerous vulvar leukoplakia?
What are the long term effects of being on Imuran? Is it feasible that polymyositis patients can eventually be medication free for this particular autoimmune disease? What is the long term prognosis of an individual who has been diagnosed with polymyositis? I recognize that this does vary with each individual. Lastly, the anti-Jo-1 antibody blood lab ranges were modified a few years ago. How does the new system range compare to the former process?
What are the long term effects of being on Imuran?
Is it feasible that polymyositis patients can eventually be medication free for this particular autoimmune disease?
What is the long term prognosis of an individual who has been diagnosed with polymyositis?
How does the new system range compare to the former process?
What are the new or experimental treatments options for cri du chat syndome?
What are the new treatments options for cri du chat syndome?
What are the experimental treatments options for cri du chat syndome?
What are the presenting complaints of central post-stroke pain?
What are the presenting complaints of central post-stroke pain?
What are the presenting features of Potter syndrome type 1? How is this condition inherited? What are the associated anomalies?
What are the presenting features of Potter syndrome type 1?
How is this condition inherited?
What are the associated anomalies?
What are the recommendations for palliative care for myalgic encephalomyelitis? What are the staging levels for this illness?
What are the recommendations for palliative care for myalgic encephalomyelitis?
What are the staging levels for this illness?
What are the signs and symptoms of familial hypercholesterolemia? What genes cause this condition?
What are the signs of familial hypercholesterolemia?
What are the symptoms of familial hypercholesterolemia?
What genes cause this condition?
What are the signs and symptoms of systemic lupus erythematosus (SLE)?
What are the signs of systemic lupus erythematosus (SLE)?
What are the symptoms of systemic lupus erythematosus (SLE)?
What are the signs, symptoms, treatment, and prognosis for hypoplastic anemia?
What are the signs for hypoplastic anemia?
What are the symptoms for hypoplastic anemia?
What are the treatment for hypoplastic anemia?
What are the prognosis for hypoplastic anemia?
What are the suggested treatments for Chandler's syndrome? Is it possible to treat this condition with existing laser technology? If the condition is not treated, can it spread to the other eye?
What are the suggested treatments for Chandler's syndrome?
Is it possible to treat this condition with existing laser technology?
If the condition is not treated, can it spread to the other eye?
What are the symptoms and possible treatments for this disease? I have many of the symptoms of hypokalemic periodic paralysis and hyperkalemic periodic paralysis but what I have seems to me more extensive and more intense.
What are the symptoms for this disease?
What are the possible treatments for this disease?
What are the symptoms and prognosis for individuals with CDG Ix? We are pending tests results from an institute in Belgium to obtain a more specific diagnosis for my 13-month-old son. He has had a liver transplant at 6 months due to liver failure, coagulopathy, ascites, protein losing enteropathy (?), failure to thrive, and hypoglycemia. CT and MRI do not show any brain abnormalities. He does not yet crawl or stand on his own, possibly because he was hospitalized for four months. I am worried about his developmental delay. He does have minimal delay in speech.
What are the symptoms for individuals with CDG Ix?
What are the prognosis for individuals with CDG Ix?
What are the symptoms of cat scratch disease?
What are the symptoms of cat scratch disease?
What are the symptoms of Gilbert syndrome?
What are the symptoms of Gilbert syndrome?
What are the symptoms of MASS syndrome? Is MASS syndrome related to Marfan syndrome?
What are the symptoms of MASS syndrome?
Is MASS syndrome related to Marfan syndrome?
What are the symptoms of microcystic adnexal carcinoma?
What are the symptoms of microcystic adnexal carcinoma?
What are the symptoms of orofaciodigital syndrome type 6? How does this syndrome affect adults? What symptoms can I anticipate for my teenage son as he enters adulthood?
What are the symptoms of orofaciodigital syndrome type 6?
How does this syndrome affect adults?
What symptoms can I anticipate for my teenage son as he enters adulthood?
What are the treatments for Fanconi Bickel syndrome?
What are the treatments for Fanconi Bickel syndrome?
What can cause a person to have such a condition and what can one do for this condition?
What can cause a person to have such a condition?
What can one do for this condition?
What can you tell me about acute intermittent porphyria and Chester porphyria?
What can you tell me about acute intermittent porphyria?
What can you tell me about Chester porphyria?
What causes Alport syndrome? Is it always inherited?
What causes Alport syndrome?
Is it always inherited?
What causes an infant to be born with this condition? My 9 month old baby boy had surgery to repair this after months of us being told he had allergies, although it was clear he had an obstruction in his nasal cavity and he was not able to breath well since birth. Also, is this a hereditary condition? How many infants are diagnosed with this? What are the long term affects even after repair?
What causes an infant to be born with this condition?
Is this a hereditary condition?
How many infants are diagnosed with this?
What are the long term affects even after repair?
What causes a pineoblastoma? Are there any risk factors for this disease? Can it be inherited?
What causes a pineoblastoma?
Are there any risk factors for this disease?
Can it be inherited?
What causes autoimmune polyglandular syndrome type 2? Is it inherited?
What causes autoimmune polyglandular syndrome type 2?
Is it inherited?
What causes Binswanger's disease? How is it diagnosed? Who is most commonly affected? What are the signs and symptoms? How is it treated? What is the prognosis?
What causes Binswanger's disease?
How is it diagnosed?
Who is most commonly affected?
What are the signs?
What are the symptoms?
How is it treated?
What is the prognosis?
What causes Brown-Vialetto-Van Laere syndrome? Is genetic testing for this syndrome available? How can I learn more about research?
What causes Brown-Vialetto-Van Laere syndrome?
Is genetic testing for this syndrome available?
How can I learn more about research?
What causes Chiari malformation type 1? How can I learn about research on this topic? In particular I'm interested in learning more about the role of genetics and possible links to radiation or drug exposure.
What causes Chiari malformation type 1?
How can I learn about research on this topic?
In particular I'm interested in learning more about the role of genetics.
In particular I'm interested in learning more about possible links to radiation exposure.
In particular I'm interested in learning more about possible links to drug exposure.
What causes Down syndrome?
What causes Down syndrome?
What causes Ehlers-Danlos syndrome and what are the symptoms?
What causes Ehlers-Danlos syndrome?
What are the symptoms?
What causes Erdheim-Chester disease?
What causes Erdheim-Chester disease?
What causes essential thrombocythemia? How long do you live with it? What was the oldest that live with the disorder?
What causes essential thrombocythemia?
How long do you live with it?
What was the oldest that live with the disorder?
What causes Ewing's sarcoma? Is it inherited? If a child is affected, are his or her siblings at risk to develop it as well?
What causes Ewing's sarcoma?
Is it inherited?
If a child is affected, is his siblings at risk to develop it as well?
If a child is affected, is her siblings at risk to develop it as well?
What causes Hashimoto's encephalitis?
What causes Hashimoto's encephalitis?
What causes hepatocellular carcinoma in children? Was it environmental or genetic factors?
What causes hepatocellular carcinoma in children?
Was it environmental or genetic factors?
What causes hereditary spherocytosis? How can I learn about research on this topic? In particular I'm interested in learning more about the role of genetics and possible links to radiation or drug exposure.
What causes hereditary spherocytosis?
How can I learn about research on this topic?
In particular I'm interested in learning more about the role of genetics.
In particular I'm interested in learning more about possible links to radiation exposure.
In particular I'm interested in learning more about possible links to drug exposure.
What causes idiopathic juxtafoveal retinal telangiectasia?
What causes idiopathic juxtafoveal retinal telangiectasia?
What causes mixed connective tissue disease? Is it genetic? Is it due to environmental exposures?
What causes mixed connective tissue disease?
Is it genetic?
Is it due to environmental exposures?
What causes pilomatrixomas?
What causes pilomatrixomas?
What causes scleromyxedema and how is it treated?
What causes scleromyxedema?
How is it treated?
What causes the disorder? What happens to a person suffering from Zellweger Syndrome? What may indicate a person has Zellweger syndrome? Is the disorder more commonly found in a particular population? If so, what ethnicity? What is the status of current research on the syndrome? What are some possible outcomes of Zellweger syndrome?
What causes the disorder?
What happens to a person suffering from Zellweger Syndrome?
What may indicate a person has Zellweger syndrome?
Is the disorder more commonly found in a particular population?
If so, what ethnicity?
What is the status of current research on the syndrome?
What are some possible outcomes of Zellweger syndrome?
What causes this to happen?
What causes this to happen?
What complications, if any, could happen if a person with polycystic kidney disease becomes pregnant? What are the risks to the mother and the baby?
What complications, if any, could happen if a person with polycystic kidney disease becomes pregnant?
What are the risks to the mother?
What are the risks to the baby?
What distinguishes Lucey-Driscoll syndrome from other causes of jaundice? Is this condition hereditary?
What distinguishes Lucey-Driscoll syndrome from other causes of jaundice?
Is this condition hereditary?
What does it mean to have a chromosome 1q42.4-qter duplication?
What does it mean to have a chromosome 1q42.4-qter duplication?
What does myasthenia gravis do to my body?
What does myasthenia gravis do to my body?
What environmental factors can cause this? Could it be a toxin breathed in during pregnancy or something you ate or drank?
What environmental factors can cause this?
Could it be a toxin breathed in during pregnancy?
Could it be something you ate?
Could it be something you drank?
What have been the affects of TRPS in the later years in life? Does any of the other people that have it have a problem with excessive sweating? If so, is there any kind of treatment that can cure it?
What have been the affects of TRPS in the later years in life?
Does any of the other people that have it have a problem with excessive sweating?
If so, is there any kind of treatment that can cure it?
What information can you provide about Floating-Harbor syndrome?
What information can you provide about Floating-Harbor syndrome?
What information do you have on acromicric dysplasia? What is the prevalence? Is HGH treatment used for people with this condition, and if so, what are the results? What is the average adult height? My daughter has been diagnosed with it based upon her skeletal bone X-ray but we are in the process of going through genetic testing for it to confirm.
What information do you have on acromicric dysplasia?
What is the prevalence?
Is HGH treatment used for people with this condition?
If so, what are the results?
What is the average adult height?
What information is available for Eisenmenger syndrome?
What information is available for Eisenmenger syndrome?
What is acute myelomonocytic leukemia and how is it best treated? Is there any research or new treatment currently in trials that is available to treat this disease? My father has just been diagnosed with this condition.
What is acute myelomonocytic leukemia?
How is it best treated?
Is there any research?
Is there any new treatment currently in trials that is available to treat this disease?
What is adenoameloblastoma? What causes it and how might it be treated?
What is adenoameloblastoma?
What causes it?
How might it be treated?
What is a hemangioendothelioma? How common is it?
What is a hemangioendothelioma?
How common is it?
What is Askin's tumor? What causes it?
What is Askin's tumor?
What causes it?
What is bilateral frontoparietal polymicrogyria? What are its symptoms? How is it different from bilateral perisylvian polymicrogyria in how it presents and what symptoms we see?
What is bilateral frontoparietal polymicrogyria?
What are its symptoms?
How is it different from bilateral perisylvian polymicrogyria in how it presents?
How is it different from bilateral perisylvian polymicrogyria in what symptoms we see?
What is branchiootorenal syndrome? How can I learn more about this condition? How can I find a specialist?
What is branchiootorenal syndrome?
How can I learn more about this condition?
How can I find a specialist?
What is Buerger disease? Are there products other than cigarette tobacco associated with Buerger disease?
What is Buerger disease?
Are there products other than cigarette tobacco associated with Buerger disease?
What is Canavan disease? How does it happen? Can it be treated? What is the prognosis?
What is Canavan disease?
How does it happen?
Can it be treated?
What is the prognosis?
What is caudal regression syndrome? What kind of therapies can we get for a child with this condition?
What is caudal regression syndrome?
What kind of therapies can we get for a child with this condition?
What is cryoglobulinemia? How is it diagnosed? How might it be treated? What are the expected outcomes for individuals with cryoglobulinemia? How common is it?
What is cryoglobulinemia?
How is it diagnosed?
How might it be treated?
What are the expected outcomes for individuals with cryoglobulinemia?
How common is it?
What is currently known about Hallermann-Streiff syndrome? Is there a genetic test for this condition?
What is currently known about Hallermann-Streiff syndrome?
Is there a genetic test for this condition?
What is double inferior vena cava, and how does it affect your health? How is it treated, and what is the prognosis?
What is double inferior vena cava?
How does it affect your health?
How is it treated?
What is the prognosis?
What is Ehlers-Danlos syndrome vascular type? What are the symptoms and how is it treated?
What is Ehlers-Danlos syndrome vascular type?
What are the symptoms?
How is it treated?
What is empty sella syndrome? What are the unusual facial features associated with the syndrome?
What is empty sella syndrome?
What are the unusual facial features associated with the syndrome?
What is epithelioid sarcoma? Why is it difficult to diagnose? What is the average length of time between the beginning of symptoms and diagnosis? How rare is it?
What is epithelioid sarcoma?
Why is it difficult to diagnose?
What is the average length of time between the beginning of symptoms and diagnosis?
How rare is it?
What is familial Mediterranean fever (FMF)? Is there any connection between fibromyalgia and FMF? Has any link been established between a family history of arthritis and FMF?
What is familial Mediterranean fever (FMF)?
Is there any connection between fibromyalgia and FMF?
Has any link been established between a family history of arthritis and FMF?
What is gray platelet syndrome? My daughter has low platelet counts and I am desperate for answers.
What is gray platelet syndrome?
What is HLH and what are the symptoms of this condition?
What is HLH?
What are the symptoms of this condition?
What is hypomelanosis of Ito?
What is hypomelanosis of Ito?
What is known about monilethrix? I was told that there isn't a cure. Is there any research being done to discover a cure? What type of treatment is currently available?
What is known about monilethrix?
Is there any research being done to discover a cure?
What type of treatment is currently available?
What is known about the inheritance of laryngomalacia?
What is known about the inheritance of laryngomalacia?
What is Kohler disease? Also what's the difference between "osteochondrosis" and "osteonecrosis?"
What is Kohler disease?
What's the difference between "osteochondrosis" and "osteonecrosis??
What is limbic encephalitis? I am working with a patient with this condition.
What is limbic encephalitis?
What is lipid storage myopathy?
What is lipid storage myopathy?
What is Meesmann corneal dystrophy?
What is Meesmann corneal dystrophy?
What is morphea and atrophoderma of Pierini and Pasini? How is atrophoderma of Pierini and Pasini treated?
What is morphea and atrophoderma of Pierini and Pasini?
How is atrophoderma of Pierini and Pasini treated?
What is most effective treatment and cure for lichen planopilaris?
What is most effective treatment for lichen planopilaris?
What is most effective cure for lichen planopilaris?
What is mucinous adenocarcinoma of the appendix?
What is mucinous adenocarcinoma of the appendix?
What is multiple familial trichoepithelioma? I was diagnosed with this condition, but no one else in my family has it. How can this be?
What is multiple familial trichoepithelioma?
How can this be?
What is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome? What causes it? Are there any support groups? Are there any research studies?
What is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome?
What causes it?
Are there any support groups?
Are there any research studies?
What is Poland syndrome? Does this condition cause physiologic functional impairment?
What is Poland syndrome?
Does this condition cause physiologic functional impairment?
What is porokeratosis of Mibelli? Does it spread to other parts of the body? Can it turn malignant? How is it treated? What is the disease course without treatment? Can it be transmitted to others? If so, how is it transmitted?
What is porokeratosis of Mibelli?
Does it spread to other parts of the body?
Can it turn malignant?
How is it treated?
What is the disease course without treatment?
Can it be transmitted to others?
If so, how is it transmitted?
What is reflex sympathetic dystrophy?
What is reflex sympathetic dystrophy?
What is Shwachman-Diamond syndrome and what causes it?
What is Shwachman-Diamond syndrome?
What causes it?
What is sialidosis type I? How might this condition be treated?
What is sialidosis type I?
How might this condition be treated?
What is Sommer Hines syndrome? How can I learn more about treatment?
What is Sommer Hines syndrome?
How can I learn more about treatment?
What is the average life expectancy of an individual with methylmalonic aciduria? I understand it is a rare disease and that all cases are different. And how many cases of cobalamin C deficiency are there in the U.S.?
What is the average life expectancy of an individual with methylmalonic aciduria?
How many cases of cobalamin C deficiency are there in the U.S.?
What is the best pain management regimen for a 50-year-old with hemoglobin sickle-beta thalassemia experiencing sickle cell crisis? Lately, the onset has become more frequent, about every three months. Is this normal?
What is the best pain management regimen for a 50-year-old with hemoglobin sickle-beta thalassemia experiencing sickle cell crisis?
Is this normal?
What is the best treatment and are there any dietary changes I should make? Are there any trials?
What is the best treatment?
Are there any dietary changes I should make?
Are there any trials?
What is the best treatment for a 3 year old who has arginase deficiency? And what is the prognosis?
What is the best treatment for a 3 year old who has arginase deficiency?
What is the prognosis?
What is the best treatment for Rosai-Dorfman? A biopsy was done about 2 years ago. The doctor is considering radiation therapy. I have a lesion deep in my pelvic bone.
What is the best treatment for Rosai-Dorfman?
What is the cause of Vogt-Koyanagi-Harada syndrome?
What is the cause of Vogt-Koyanagi-Harada syndrome?
What is the chance for children with Klumpke paralysis to recover arm and hand strength and mobility? How might Klumpke paralysis be treated? Will surgery benefit my child?
What is the chance for children with Klumpke paralysis to recover arm strength?
What is the chance for children with Klumpke paralysis to recover arm mobility?
What is the chance for children with Klumpke paralysis to recover hand strength?
What is the chance for children with Klumpke paralysis to recover hand mobility?
How might Klumpke paralysis be treated?
Will surgery benefit my child?
What is the chance of having another child with Angelman syndrome if a mother has a translocation of chromosomes 15 and 7? Is there additional genetic testing that could be performed?
What is the chance of having another child with Angelman syndrome if a mother has a translocation of chromosomes 15 and 7?
Is there additional genetic testing that could be performed?
What is the chance that a sibling of a child with Diamond-Blackfan anemia will also have the condition in a family with no prior history of Diamond-Blackfan anemia?
What is the chance that a sibling of a child with Diamond-Blackfan anemia will also have the condition in a family with no prior history of Diamond-Blackfan anemia?
What is the current understanding of the risk for developing multiple myeloma among first degree relatives of an affected person? For example, if a parent has been diagnosed with multiple myeloma, what is the risk to a child?
What is the current understanding of the risk for developing multiple myeloma among first degree relatives of an affected person?
For example, if a parent has been diagnosed with multiple myeloma, what is the risk to a child?
What is the difference between a epithelioid sarcoma and a lipoma or liposarcoma?
What is the difference between a epithelioid sarcoma and a lipoma?
What is the difference between a epithelioid sarcoma and a liposarcoma?
What is the difference between cryoglobulinemia and cold agglutinin disease?
What is the difference between cryoglobulinemia and cold agglutinin disease?
What is the difference between Roberts syndrome and tetra-amelia syndrome? How can my condition be diagnosed?
What is the difference between Roberts syndrome and tetra-amelia syndrome?
How can my condition be diagnosed?
What is the difference between uterine adenosarcoma and uterine adenocarcinoma? Or are they the same thing? I'm trying to research this diagnosis and keep seeing these phrases used interchangeably.
What is the difference between uterine adenosarcoma and uterine adenocarcinoma?
Are they the same thing?
What is the expected life span of a person with this chromosome deletion? I am very concerned about my grandson who has this deletion and lately seems to be sick a lot. He has always had a lot of sickness, but now it seems to be more often. He is 20 years old.
What is the expected life span of a person with this chromosome deletion?
What is the incidence of amniotic band syndrome? Where can I find information about clinical trials?
What is the incidence of amniotic band syndrome?
Where can I find information about clinical trials?
What is the incidence of congenital fiber type disproportion? Is it considered a rare disease?
What is the incidence of congenital fiber type disproportion?
Is it considered a rare disease?
What is the incidence of Melkersson-Rosenthal syndrome? How many cases have been reported in India?
What is the incidence of Melkersson-Rosenthal syndrome?
How many cases have been reported in India?
What is the incidence of pityriasis lichenoides et varioliformis acuta (PLEVA) in the United States? How often does PLEVA turn into something more serious?
What is the incidence of pityriasis lichenoides et varioliformis acuta (PLEVA) in the United States?
How often does PLEVA turn into something more serious?
What is the life expectancy for 22q13.3 deletion syndrome?
What is the life expectancy for 22q13.3 deletion syndrome?
What is the life expectancy for a baby with semi-lobar holoprosencephaly? What are the most common defects?
What is the life expectancy for a baby with semi-lobar holoprosencephaly?
What are the most common defects?
What is the life expectancy for a child with Dravet syndrome? Other main characteristics?
What is the life expectancy for a child with Dravet syndrome?
Other main characteristics?
What is the life expectancy for FG syndrome?
What is the life expectancy for FG syndrome?
What is the life expectancy for individuals with optic atrophy 1?
What is the life expectancy for individuals with optic atrophy 1?
What is the life-expectancy for individuals with protein S deficiency?
What is the life-expectancy for individuals with protein S deficiency?
What is the life expectancy for infants diagnosed with Waldmann disease?
What is the life expectancy for infants diagnosed with Waldmann disease?
What is the life expectancy for someone with purine nucleoside phosphorylase deficiency?
What is the life expectancy for someone with purine nucleoside phosphorylase deficiency?
What is the life expectancy for someone with Wolf-Hirschhorn syndrome?
What is the life expectancy for someone with Wolf-Hirschhorn syndrome?
What is the life expectancy of a child with VLCAD deficiency? Who are the best doctors in the United States for this condition? I was told that my child has one mutated gene and one with significant variables. Does that mean she has the condition?
What is the life expectancy of a child with VLCAD deficiency?
Who are the best doctors in the United States for this condition?
Does that mean she has the condition?
What is the life expectancy of an adult with Sturge-Weber syndrome?
What is the life expectancy of an adult with Sturge-Weber syndrome?
What is the life expectancy of an individual with Costello syndrome?
What is the life expectancy of an individual with Costello syndrome?
What is the life expectancy of individuals with Cornelia de Lange syndrome?
What is the life expectancy of individuals with Cornelia de Lange syndrome?
What is the life expectancy of someone born with chondrodysplasia punctata 1, X-linked recessive (CDPX1)? What are the odds of getting CDPX1? What research is being done at present regarding CDPX1?
What is the life expectancy of someone born with chondrodysplasia punctata 1, X-linked recessive (CDPX1)?
What are the odds of getting CDPX1?
What research is being done at present regarding CDPX1?
What is the life expectancy of someone with POEMS syndrome? I was diagnosed when I was in my 50s. I am currently taking Revlamid. I walk with a walker and I have had many skin sores.
What is the life expectancy of someone with POEMS syndrome?
What is the long-term prognosis of tracheobronchomalacia?
What is the long-term prognosis of tracheobronchomalacia?
What is the name of the blood test used to diagnose Lynch syndrome?
What is the name of the blood test used to diagnose Lynch syndrome?
What is the name of the test that would be used to diagnose this condition? Is there more than one test? Most importantly, how accurate is this test for both positive and negative results?
What is the name of the test that would be used to diagnose this condition?
Is there more than one test?
Most importantly, how accurate is this test for both positive results?
Most importantly, how accurate is this test for negative results?
What is the oldest a person with this condition is known to live for?
What is the oldest a person with this condition is known to live for?
What is the outlook for people with autoimmune hemolytic anemia?
What is the outlook for people with autoimmune hemolytic anemia?
What is the prevalence of calciphylaxis in the United States of America?
What is the prevalence of calciphylaxis in the United States of America?
What is the prognosis for individuals affected by idiopathic pulmonary hemosiderosis? Will a cure become available? Can the disease become terminal?
What is the prognosis for individuals affected by idiopathic pulmonary hemosiderosis?
Will a cure become available?
Can the disease become terminal?
What is the prognosis for individuals affected by sixth nerve palsy?
What is the prognosis for individuals affected by sixth nerve palsy?
What is the prognosis for individuals diagnosed with Brugada syndrome?
What is the prognosis for individuals diagnosed with Brugada syndrome?
What is the prognosis for individuals with femoral facial syndrome, especially regarding mobility? What is the life expectancy for this condition? Can the condition be passed on to one's children?
What is the prognosis for individuals with femoral facial syndrome?
What is the prognosis for individuals with femoral facial syndrome, especially regarding mobility?
What is the life expectancy for this condition?
Can the condition be passed on to one's children?
What is the prognosis for Pitt-Hopkins syndrome?
What is the prognosis for Pitt-Hopkins syndrome?
What is the prognosis or life expectancy for people diagnosed with melorheostosis?
What is the prognosis for people diagnosed with melorheostosis?
What is the life expectancy for people diagnosed with melorheostosis?
What is the recommended follow up or management of AFAP after the colon has been removed? The small intestine is connected to the rectum. I have had polyps in the rectum and also in the stomach since the colon was removed. How often do I need to do follow up tests to make sure nothing is growing in there?
What is the recommended follow up of AFAP after the colon has been removed?
What is the recommended management of AFAP after the colon has been removed?
How often do I need to do follow up tests to make sure nothing is growing in there?
What is the recurrence risk in another pregnancy?
What is the recurrence risk in another pregnancy?
What is the right name for epidermolytic hyperkeratosis? Is anyone doing research on this disease? Is there a cure?
What is the right name for epidermolytic hyperkeratosis?
Is anyone doing research on this disease?
Is there a cure?
What is the treatment for Jacobsen syndrome? Our 6 month old baby was diagnosed with this last week.
What is the treatment for Jacobsen syndrome?
What is the treatment? Is there a way to improve the bone growth?
What is the treatment?
Is there a way to improve the bone growth?
What is the treatment or remedy of mixed connective tissue disorder?
What is the treatment of mixed connective tissue disorder?
What is the remedy of mixed connective tissue disorder?
What is the treatment protocol for amelogenesis imperfecta? Is fluoride supplementation useful for "hardening" the enamel of the teeth of individuals affected by this condition?
What is the treatment protocol for amelogenesis imperfecta?
Is fluoride supplementation useful for "hardening" the enamel of the teeth of individuals affected by this condition?
What is this exactly and how does it effect someone?
What is this exactly?
How does it effect someone?
What is this? Why do I have it? I just had a baby and found out I had it. My sister also just had a baby and has it too. Will we be okay?
What is this?
Why do I have it?
Will we be okay?
What is tubular aggregate myopathy?
What is tubular aggregate myopathy?
What is Wiskott Aldrich syndrome and what does it do to the body?
What is Wiskott Aldrich syndrome?
What does it do to the body?
What kind of disease is this? What impact will it have on my life? Where did it come from? I don't understand how I got this 'rare' disease and don't know anything about it. Could you please help me understand? I would like to be in a research study. How can I find one?
What kind of disease is this?
What impact will it have on my life?
Where did it come from?
Could you please help me understand?
How can I find one?
What kind of vision loss is associated with Charcot-Marie-Tooth disease?
What kind of vision loss is associated with Charcot-Marie-Tooth disease?
What lung conditions are commonly associated with yellow nail syndrome? How are they treated?
What lung conditions are commonly associated with yellow nail syndrome?
How are they treated?
What medications and/or treatments can I use for this condition? The itching is driving me crazy. At the moment I take anti-histamines, would PUVA treatments help? Will this condition ever leave?
What medications can I use for this condition?
What treatments can I use for this condition?
At the moment I take anti-histamines, would PUVA treatments help?
Will this condition ever leave?
What medicines have been successfully used other than Cytoxan and Prednisone for primary angiitis of the central nervous system? I've been diagnosed since 2009 and these medicines have compromised my lung.
What medicines have been successfully used other than Cytoxan and Prednisone for primary angiitis of the central nervous system?
What methods have been used to successfully treat idiopathic hypersomnolence? Is modafinil still the preferred treatment?
What methods have been used to successfully treat idiopathic hypersomnolence?
Is modafinil still the preferred treatment?
What percentage of patients with Alström syndrome become deaf? What is the average age of deafness?
What percentage of patients with Alström syndrome become deaf?
What is the average age of deafness?
What percentage of patients with Wolff Parkinson White syndrome have Ebstein's anomaly?
What percentage of patients with Wolff Parkinson White syndrome have Ebstein's anomaly?
What percentage of people with thrombotic thrombocytopenic purpura (TTP) experience a relapse of symptoms following treatment?
What percentage of people with thrombotic thrombocytopenic purpura (TTP) experience a relapse of symptoms following treatment?
What symptoms might I get from this condition and how does this affect my testosterone level?
What symptoms might I get from this condition?
How does this affect my testosterone level?
What testing is available to distinguish between the different types of achondrogenesis? What is the chance of having another child with this condition?
What testing is available to distinguish between the different types of achondrogenesis?
What is the chance of having another child with this condition?
What tests will my doctor order to confirm if I have Huntington disease?
What tests will my doctor order to confirm if I have Huntington disease?
What treatment options are available for myoepithelial carcinoma? Is there a clinical trial for treatment of this cancer?
What treatment options are available for myoepithelial carcinoma?
Is there a clinical trial for treatment of this cancer?
What treatments are available for hereditary neuropathy with liability to pressure palsy?
What treatments are available for hereditary neuropathy with liability to pressure palsy?
What treatments are available for ovarian small cell carcinoma? What specific drugs have been successfully used for chemotherapy? Are there any clinical trials?
What treatments are available for ovarian small cell carcinoma?
What specific drugs have been successfully used for chemotherapy?
Are there any clinical trials?
What types of treatments are there for Cowden syndrome? Should treatment begin right after diagnosis or is there a waiting period?
What types of treatments are there for Cowden syndrome?
Should treatment begin right after diagnosis or is there a waiting period?
What would cause 2 children of the same family to have this disease, and how common is it?
What would cause 2 children of the same family to have this disease?
How common is it?
When a person has an autosomal recessive condition like glycogen storage disease type VI, what is the likelihood that their child will have the disorder?
When a person has an autosomal recessive condition like glycogen storage disease type VI, what is the likelihood that their child will have the disorder?
When I bend over and straighten up my spine feels like its ripping open. Is this part of the disorder?
Is this part of the disorder?
When I was about 8-years-old, I was hospitalized due to encephalitis lethargica. I was extremely ill and it took me a long time to recover. Last May, I was diagnosed with a benign meningioma. Could my childhood illness be related to the development of my tumor? Are there any documented cases of meningioma in other survivors of encephalitis lethargica?
Could my childhood illness be related to the development of my tumor?
Are there any documented cases of meningioma in other survivors of encephalitis lethargica?
When my second daughter was born last year, I noticed that she had a small bald patch the size of a coin. I am afraid that she might have aplasia cutis congenita. Can you provide me with information about this condition?
Can you provide me with information about this condition?
When staging Merkel cell carcinoma with sentinel lymph node biopsy, is the use of a tracer as effective as blue dye for identifying the sentinel lymph node? What is the role of Mohs surgery for treating Merkel cell carcinoma?
When staging Merkel cell carcinoma with sentinel lymph node biopsy, is the use of a tracer as effective as blue dye for identifying the sentinel lymph node?
What is the role of Mohs surgery for treating Merkel cell carcinoma?
When was bilateral Goldenhar named? What case initiated this name? What is the correct percentage of people with Goldenhar and bilateral Goldenhar US and Worldwide?
When was bilateral Goldenhar named?
What case initiated this name?
What is the correct percentage of people with Goldenhar US?
What is the correct percentage of people with Goldenhar Worldwide?
What is the correct percentage of people with bilateral Goldenhar US?
What is the correct percentage of people with bilateral Goldenhar Worldwide?
Where and who do I turn to get the help that my daughter needs? What medications are used for this? How long before it will go into remission? How much can be expected of a person that has this and it is not in remission?
Where do I turn to get the help that my daughter needs?
Who do I turn to get the help that my daughter needs?
What medications are used for this?
How long before it will go into remission?
How much can be expected of a person that has this and it is not in remission?
Where can confirmatory testing for Tangier disease be performed? How might this condition be treated?
Where can confirmatory testing for Tangier disease be performed?
How might this condition be treated?
Where can I find a doctor for tarsal carpal coalition syndrome in Mississippi or Alabama?
Where can I find a doctor for tarsal carpal coalition syndrome in Mississippi?
Where can I find a doctor for tarsal carpal coalition syndrome in Alabama?
Where can I find a good description of Wyburn Mason's syndrome?
Where can I find a good description of Wyburn Mason's syndrome?
Where can I find a recommended doctor to treat my nephew with Kyphomelic Dysplasia?
Where can I find a recommended doctor to treat my nephew with Kyphomelic Dysplasia?
Where can I find information about the symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type?
Where can I find information about the symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type?
Where can I find information on National Institutes of Health (NIH) funding for rare diseases, specifically retinitis pigmentosa? I am also looking for information on the cost of having this condition and current research projects. How many people have retinitis pigmentosa in the United States?
Where can I find information on National Institutes of Health (NIH) funding for rare diseases?
Where can I find information on National Institutes of Health (NIH) funding for rare diseases, specifically retinitis pigmentosa?
I am also looking for information on the cost of having this condition.
I am also looking for information on current research projects.
How many people have retinitis pigmentosa in the United States?
Where can I find the latest information about genetic testing for bipolar disorder?
Where can I find the latest information about genetic testing for bipolar disorder?
Where can I get a complete list of all genes that have been associated with Crohn's disease?
Where can I get a complete list of all genes that have been associated with Crohn's disease?
Where can I get information on cystic fibrosis carrier screening and the official recommendations for pregnant women?
Where can I get information on cystic fibrosis carrier screening?
Where can I get information on the official recommendations for pregnant women?
Where is the gene responsible for Hutchinson-Gilford progeria syndrome located?
Where is the gene responsible for Hutchinson-Gilford progeria syndrome located?
Why does it appear that hemolysis occurs mostly at night?
Why does it appear that hemolysis occurs mostly at night?
Will Fabry disease affect a transplanted kidney? Previous to the transplant the disease was being managed with an enzyme supplement. Will the enzyme supplement need to be continued? What are, if any, cautions or additional treatments required to manage the disease with a transplanted kidney?
Will Fabry disease affect a transplanted kidney?
Will the enzyme supplement need to be continued?
What are, if any, cautions required to manage the disease with a transplanted kidney?
What are, if any, additional treatments required to manage the disease with a transplanted kidney?
Would the toes being bent down and not wanting to come up be part of this disease? I also have one knee that is in constant pain and doesn't want to lay flat anymore. I was told a few years ago that this disease runs in my family. I haven't mentioned it yet to my family physician as I just remembered it and wanted to get some more info about this disease.
Would the toes being bent down and not wanting to come up be part of this disease?
I haven't mentioned it yet to my family physician as I just remembered it and wanted to get some more info about this disease.