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Fabry Disease-searching for relatives
Posted by: kathie helmkamp (ID *****7204) Date: March 07, 2007 at 08:00:24
I hope others do not mind that I am using this site to try and find answers to a genetic disease and just maybe help others.
Five people in my family have been diagnosed with something called Fabry Disease. It is a rare genetic disease that is passed down through the X chromosome. Not sure if it came from my moms father's side or her mother's side of the family. Her mother's mother was Mary Susan Moss whose mother was Jane Rosa Montague. Jane Rosa's father was Philip Montague of Cumberland Co, VA. Genetic counselors advised us to try and find family members that may have this. We are most interested in helping others in our family that may have the disease. Many search for years to get a diagnosis and others are misdiagnosed because it is rare and most doctors have not heard of it.
The short version is people with this disease are lacking an enzyme that breaks down certain lipids and wastes from the blood cells. Because we can not get rid of this stuff it builds up in the body. Many that have it end up with kidney and heart problems that can lead to kidney transplants.
The symptoms are kind of strange but include severe, burning, pain in the hands and feet which worsen when running a fever or when becoming active. Many experience intolerance to extreme cold or hot tmepertures. Most that have it do not sweat which can lead to heat stroke. Many have a red type rash around their abdominal area. Gastro problems are common as well. During eye exams many doctors note a swirl like pattern in the eye during slit lamp exams, but most have no clue as to the cause. Other complain of ringing in their ears as well as hearing loss. The worst problems lead to kidney failure, heart problems and stroke. If any of this sounds familar to anyone please write to me at Kampertwo@yahoo.com.
All the best to all of you.
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