What is Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of rare genetic disorders caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary fro...
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Where can I get worked up for EDS in NJ/NY area?
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After experiencing severe swelling, discoloration and joint involvement from a minor hand surgery--a Rheumotologist declared that I had EDS.
My twin brother has had two aortic aneurysms, frequent hip and knee dislocations. I went to U of Penn. Genetics in 2000. They said because I did not have the skin strechiness, I did not have ELS. I was pregnant twice and lost both early on. I'm most concerned about my twin brother's daughter and his other kids. Posted on 03/27/08, 07:03 pm |
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I have velvety skin (not an altogether bad thing) but my skin is not stretchy. My geneticist wasted NO time in diagnosing me with EDS with no reservations about it. Go to another geneticist. 
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Would be a drive for you but I got really good treatment from Dr. Michael Murray, a geneticist at Brigham and Women's Hospital in Boston. He looked at me for 10 minutes and said he was "100% certain." He hooked me up immediately with a PT, pain person, surgeon (in case), and echocardiogram. This clinic specializes in EDS and similar problems.
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I went to a Rhumey over at Jefferson - and he said the same thing. I couldn't have EDS Type III just because I didn't have the strechy skin - never mind the velvety skin, visible veins, and cigarrette paper scars - along with the minor symptoms.
My primary researched and feel this is what I have. And I agree with her. I'm going to try another dx.
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the first specialist I saw when I moved to ohio tried to say I don't have EDS due to the skin thing as well. He was also the same doc who gave me a scrip for allergy pills and called them pain meds! I of course dropped that doc right away, and went to a better one, who confirmed my diagnosis. not every doc knows enough about EDS to make the right decisions on a Dx, so hang in there and try someone else. (EDS 3 is noted for NOT having stretchy skin)
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Johns Hopkins (in Maryland) might be more convenient for you than Boston. At least one geneticist there (Clair A. Francomano) has an excellent reputation for dealing with EDS.
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As far as your brother's kids, I was told that kids can be checked as early as 4 years old to see if they are exhibiting any of the symptoms and to let the parents know what to look for and what to avoid.
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