Which Type Of Specialist To See To Dx Eds??

[It'sMyLife]

Basically my question is in my Topic Title. If I wanted to be "tested" for EDS, where would I start?

[sugartwin]

See a geneticist, preferably one with a specialty in connective tissue disorders. I really wouldn't bother with a rheumatologist unless they specifically treat EDS.

[It'sMyLife]

Thanks, Sugartwin. Now, I need to know how to convince my PCP to put in a referral for a geneticist. I don't have very elastic skin but have been told since I was a teenager (when getting sports physicals) that my hypermobility puts me at risk for a dislocation if I don't do strenth traning on my joints. In addition, when I was a child I was on crutches two or three times for my hip joint coming partially out of socket (while doing a cartwheel the one time I remember) and leaving me very sore.

Do you have any advice or articles you recommend to take to my PCP when asking for this referral? Thanks so much!

[sugartwin]

That can be the difficult part, depending on how receptive your PCP is. If he's receptive I would recommend you print out and show your doctor the GeneReviews article here: http://www.ncbi.nlm.nih.gov/bookshelf/br.f...e∂=eds3

It talks about the Hypermobility type (no stretchy skin necessary), and discusses the relationship between it and autonomic disruptions like POTS and NMH. It also clearly outlines the major and minor diagnostic criteria.

Classical and Hypermobility-type EDS are clinical diagnoses, arrived at by observing the patient and taking their family history. There's no complicated or expensive testing involved unless it's to rule out vascular type, which is life threatening, but also a lot rarer.

[It'sMyLife]

Thanks so much!!

ETA: I went through the criteria list of the five listed. I don't really meet the criteria there... seems like all my flexibility stops millimeters to a centimeter short of the criteria. Who knows. I guess I'll have to wait and see what the docs think.

[sugartwin]

If you really feel like you're only a few millimeters off or what have you, I really would leave it up to the doctor. People with hypermobility type tend to lose flexibility as time goes on, such that it becomes more important that you have the history of being able to perform a certain manuever, even if you can't do it presently.

[flop]

I'd back the suggestion to let a doctor make the call on fitting the criteria or not - it can be very hard to judge yourself on knees and elbows. My official diagnosis letter for Hypermobile EDS says ....Beighton score of 3/9 (historically 7/9)....

For example I could put my thumbs flat against my forearms for years, but repeated tendonitis in the wrists and then wrist fractures mean that I can't get them anywhere near touching now.

Flop

[comfortzone]

The Ehlers Danlos National Foundation has a website and forum where you can learn things. There's a good book by Dr. Brad Tinkle who is a geneticist at Cincinnati Children's you can get on Amazon.Com for around ten or so dollars.......It goes over all the body systems that EDS effects -- it's truly a wonder collection of all the latest knowledge. Also just published was a sequel to this book called the The EDS Handbook - Dr. Tinkle is a great resource...

The Hypermobility Association is UK based and you can read or participate in their forums free I believe -- the US EDNF has you contribute to be able to post in their forum I think.

I was sent to orthopedic surgeons, then to a podiatrist, my primary doc didn't know, saw oncology, a couple of neurologists and in the end it was a rheumatologist referred by the podiatrist that found out what she thought might be my issue. She sent me home with a couple of copied pages of an article and at my follow-up appt. I told her I identified positively with almost all the article. I told her my Beighton score was 6 (thumbs, pinkies, elbows) minimally and likely higher as I'm actually older and sometimes you lose your flexibility as you age. Anyway she was the ONLY one who ever mentioned it and even since then NO one knows what it is if I tell them. However now since many of the main authors, scholars and researchers are saying EDS-HM and Hypermobility Syndrome are one in the same -- I tell the doctors I'm referred to I have Ehlers-Danlos Hypermobile Type and then they say they remember that from med school.

I was met though with resistance from the medical community in that they'd say you were diagnosed "ONLY by a rheumatologist?" So I went to a Geneticist - and they confirmed the diagnosis. But honestly though they were geneticists I had much more up to date info than they -- and they were kind and competent -- but not known for their specialty in EDS or collagen issues. I mean they have to be to a certain extent to the rudimentary stuff -- But a pediatric population based geneticist isn't always well versed in EDS. Some with great reputations are quite NOT skilled at caring for it at all.

Since there is no cure anyway -- I found it best to watch medical videos, even patient created videos on U-Tube can be enlightening -- do my own research and reading and educate my team of care-givers the best I can. Not all want to be taught, not all are even believing at first. But in the end -- it is what it is -- & they are your team .... they want you to be as healthy as you can be.

It can feel humiliating to be belittled and such even when some docs know about it -- a dermatologist locally was supposed to send a biopsy for EDS -- he cracked jokes and touched his toes and pulled the skin out from his neck like it was all funny.... I was disgusted.

The best you can do is to educate yourself and stay connected. The internet is a wealth of info -- the names most often I hear that are seemingly reputable in research and interest are Dr. Bird, Dr. Grahame, Dr. Tinkle, Dr. Bravo, Dr. Levy, Dr. Levine I believe. Bravo is working in Chili, Bird and Grahame are in the UK ...

Who I see now for this diagnosis is physical therapy (I'm a lifer it seems), primary care doc, cardiology, pain management, rheumatology if needed, orthopedic surgeon, as it seems to take a good group to help with all the issues -- I also see gastro and need to see someone about sleep and autonomic nervous system things yet...

Good Luck to you

[It'sMyLife]

Thank you for the info and advice.

Thanks especially to nowwhat! for sharing so much with me.