Discussions By Condition: I cannot get a diagnosis.

Help? Ehlers Danlos Hypermobility in NYC

Posted In: I cannot get a diagnosis. 8 Replies
  • Posted By: Meggie
  • February 20, 2008
  • 06:27 AM

I have all the classic symptoms.

Flexible/unstable joints,
Constant subluxations/dislocations
Fragile, "velvet", translucent skin
Easily bruised
Slow to heal

etc.

I am 24, I was told in passing by a Doctor I had this, 6 years ago.

I've been to so many doctors. Even at NYU's Hospital For Joint Disease (after they told me they could help), I basically keep getting told that they're sure I have it, but no Doctor knows enough about it to feel comfortable giving me a written diagnosis.

I can't find any Doctor locally, or even in a nearby state.

I'm only getting worse. My dislocations are getting more severe and having longer lasting effects.

My pain level is at the point I can barely function. Even going out once a week is a process.

ANY info. ANY, would be helpful.

I've joined the ED forums/site...but have only ever had issues logging in and I hate to say it, but they haven't been to helpful resolving it with me.

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8 Replies:

  • If you go here and put in Ehlers-Danlos you will get three support groups: http://dirline.nlm.nih.gov/ Hope this helps.
    aquila 1263 Replies
    • February 20, 2008
    • 04:42 PM
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  • I was just googling a bit and found your post. EDS NYC is the local group for people coping with Ehlers Danlos Syndrome. We have a lot of members who offer up great advice at our meetings. You can get in touch through our blog at http://edsnyc.org.
    rideon 2 Replies
    • February 17, 2009
    • 03:50 PM
    • 0
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  • At this very good site www.hypermobility.org there are British doctors whom you maybe can contact and ask if they can recommend someone in NYC. Good luck! :)
    Felsen 510 Replies
    • February 18, 2009
    • 01:22 AM
    • 0
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  • I am 24, I was told in passing by a Doctor I had this, 6 years ago.I've been to so many doctors. Even at NYU's Hospital For Joint Disease (after they told me they could help), I basically keep getting told that they're sure I have it, but no Doctor knows enough about it to feel comfortable giving me a written diagnosis.I can't find any Doctor locally, or even in a nearby state. My sister has EDS as well as Marfans. It is a very hard disease to learn to live with. She was told that she would be wheelchair bound by the time she was 40. She is only 33 now and has had numerous surgeries on joints to keep them in place because they "pop" out. I know that there is a doctor at the NIH that is doing research on it. The base for NIH is in Maryland, which happens to be close to New York. I realize that traveling is hard (my sister can no longer fly in airplanes and suffers riding in cars) but it might be worth your while to try and call the NIH and see about the study. I will see if I can find out the name of the doctor and post it again for you.
    locaoca 3 Replies
    • February 18, 2009
    • 01:37 AM
    • 0
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  • The doctors at the NIH who are involved with the study are Clare Francomano & Nazli McDonnell. Here's a link to one of their current clinical trials involving EDS: http://clinicaltrials.gov/ct2/show/NCT00270686They are excellent doctors and have spoken at the EDNF conferences. To reiterate what's already been posted, there are a lot of great resources available across the internet. Our group has a member-generated list of over 60 doctors with whom our members have had good experiences in the New York City area. There is one geneticist on the list who has seen and diagnosed A LOT of our members, as well.
    rideon 2 Replies
    • February 18, 2009
    • 02:03 AM
    • 0
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  • I was diagnosed by the geneticists at mt sinai in NYC.Still looking for someone with enough knowledge to treat me though :-/
    Anonymous 42789 Replies
    • February 23, 2011
    • 06:33 PM
    • 0
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  • I have all the classic symptoms.Flexible/unstable joints, Constant subluxations/dislocationsFragile, "velvet", translucent skinEasily bruisedSlow to healetc.I am 24, I was told in passing by a Doctor I had this, 6 years ago.I've been to so many doctors. Even at NYU's Hospital For Joint Disease (after they told me they could help), I basically keep getting told that they're sure I have it, but no Doctor knows enough about it to feel comfortable giving me a written diagnosis.I can't find any Doctor locally, or even in a nearby state.I'm only getting worse. My dislocations are getting more severe and having longer lasting effects.My pain level is at the point I can barely function. Even going out once a week is a process.ANY info. ANY, would be helpful.I've joined the ED forums/site...but have only ever had issues logging in and I hate to say it, but they haven't been to helpful resolving it with me.Hi,I was very touched by your post and hope that you have gotten a formal dx by this time. In case not, you can try the Genetics Counseling at NYU Medical Center, Dr. John Pappas, 212.263.3288. He will evaluate you and make a diagnosis, including type of EDS. The first person to recognize that I had EDS-Hypermobility was a top NYC rheumatologist, Dr. Hal Mitnick. I was in my mid-50's with lots of osteoarthritis and was suspicious that something else was going on. When I got Dr. Tinkle's book, "Issues with Joint Hypermobility", it was quite a relief to see that all of the seemingly unrelated symptoms (periodontal, TMJ, bruising, fatigue!) was my story. In my case it wasn't a very difficult diagnosis as my mother has/had all of the symptoms I've had and both of us were extreme "bendies" when we were young: lots of pretzel poses in our family!Good luck!!!Friend in NYC
    Anonymous 42789 Replies Flag this Response
  • I thought EDS was very dangerous because you could have problems with you aorta. Did you go your whole life with no aorta problems?
    Anonymous 42789 Replies Flag this Response
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