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Acute Disseminated Encephalomyelitis (ADEM)
Arteriovenous Malformation (AVM)
Atrial Septal Defect
Charcot Marie Tooth (CMT)
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
Guillain-Barre Syndrome (GBS)
Primary Sclerosing Cholangitis (PSC)
Psoriatic Arthritis (PsA)
Traumatic Brain Injury (TBI)
Trigeminal Neuralgia (TN)
Von Willebrand's Disease (VWD)
Other Rare Diseases
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Fabry disease is a fat storage disorder caused by a deficiency of an enzyme, alpha-galactosidase A (also called ceramidetrihexosidase), involved in the breakdown of fats. Since fat doesn't break down properly, part of it (globotriaosylceramide, also called Gb3 or GL-3) accumulates in the blood, blood vessels, and organs of the body and causes damage.
Fabry disease may be hard to detect because several of its signs and symptoms overlap those present in other diseases and conditions. Patients do not typically have all of the symptoms associated with Fabry, while others may develop them at different times throughout their lives.
It is important that the doctor finds out whether there is a family history of Fabry disease whenever it is suspected.
Hi everyone,I'm glad I found this forum. I'm a 24 year old from Canada and I live with another rare genetic condition called Ehlers-Danlos syndrome. I saw a geneticist several months ago who confirmed the EDS diagnosis, but, based on my personal and…Continue
We are working with a non profit consulting firm called Bridgespan that helped us put this survey together to help us quantify the benefits of Ben's Friends. The hope is that we can use the data to make the communities better and to apply for grants…Continue
Ben Munoz and Ben's Friends Patient Communities were featured in Forbes over the weekend! Thanks to the Members who talked to the author, Sarah McKinney.…Continue
Hi I'm a 38 year old female I have been poorly for the last 7 years. I am just waiting for my results if I have Fabry disease. My symptoms are nerve damage in my hands and legs numbness and burning mainly in my feet, bloated stomach, hearing is fine…Continue