Finally a confirmed diagnosis

After waiting for a year and a half, I finally was able to see a Geneticist last Friday. My autonomic specialist had already clinically diagnosed me with EDS, but we needed to see if any testing was warranted. Cross the t’s and dot the i’s kind of thing.

So it’s official, I have hEDS. The Geneticist spent two hours with me. It was so refreshing to hear someone who was connecting the dots between my dysautonomia and Ehlers-Danlos. We also did the pharmacogenic testing for analgesics. Surprisingly, I should be getting results by tomorrow~ish. I figured it would take six weeks or some long amount of time. My PCP was happy this morning when I saw him because now he has something that is concrete; not that the neurologist didn’t know what he was talking about, but this was straight from the horse’s mouth.

Is life different now? No…I’ve already adapted as much as possible and will continue to protect my joints and all the connective tissue as best I can. It is nice to have someone else that is 110% on your side and is backing you up.

Hey Firefly,
You say “Is life different now? No…” and I’m sorry, But I disagree. YOU HAVE A CONCRETE BONA FIDE DIAGNOSIS!!! Congratulations. And I truly mean that.
For many of us (me included) we have some dr’s who guess at a diagnosis or give a diagnosis by way of elimination ie 'If its not this and its not that, then it must be ***** ". The problem I found was that neither the guess nor elimination diagnosis were correct. But to actually receive a tested and confirmed diagnosis, that was such a relief for me. You’ve made adaptations and to a point I think we all do to manage the best way we can, we have to, to be able to live.
“It is nice to have someone else that is 110% on your side and is backing you up”. Personally I could not agree more and that has made a hell of a difference in my life, that is the one thing I can guarantee you of.

Merl from the Moderator Support Team

Quick question. Other than having it for piece of mind, is it really necessary to get the genetic testing done for confirmation of hEDS?

I’ve been symptomatic for a couple of decades, had a rheumatologist give me a handout and allow me to self diagnose myself with Fibromyalgia (that’s literally what my records from him say, she agrees with the handout so I guess she has FM) a little over 6 years ago. I was also told I had trucantar bursitis at the same time. Since then I’ve had several doctors/pain specialists who merely treated the symptoms of the original pseudo diagnosis (lots of steroid shots) without actually verifying my condition themselves.

Last month I saw a new doctor based on the recommendation of my PT and she pseudo diagnosed me with hEDS as well as confirmed (with a real MRI) that I do have bursitis, as well as chronic tendinopathy, and a small tear in the cartilage around the ball joint of my hip. She told me the tear is probably negligible so I shouldn’t worry about it and there is no reason (unless needed for insurance purposes) for me to do genetic testing because hEDS and Hypermobility Syndrome are basically the same thing and the treatment is the same, but she is pretty positive that I have hEDS and not just Hypermobility Syndrome.

From someone who has done the testing and gotten confirmation, is it really worth it or is my new doctor right and I shouldn’t worry about the testing because it won’t have any impact on my treatment?

Having a confirmed EDS diagnosis by a geneticist carries a lot of weight. As you’re probably already aware, the diagnostic criteria changed in 2017 and there are now 13 official types (with a 14th unnamed as well). Hypermobile EDS is the only type at this point that doesn’t have a gene associated with it. However it is worthwhile getting in to be seen, because sometimes there are things that get missed and perhaps there is additional testing that needs done.

I learned at my appointment that my migraines are caused from the EDS and my dysautonomia is also from it as well.

It’s worth it so that you know it isn’t something else in addition or perhaps a different type.

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