Ehlers-Danlos Syndrome?

[terpkristin]

Does anybody here know anything about Ehlers-Danlos Syndrome? It's a disorder apparently caused by genetics, caused by reduced collagen synthesis. Based on what I've read online, the biggest indicator of it is hypermobile joints. While trying to get some help on hip pain I've been having, my orthopaedist suggested that I might have it and recommended I get tested.

So, I called the place he said I should call (McKusick Nathans Institute of Genetic Medicine at Hopkins), but they haven't gotten back to me yet, even about scheduling (I called on Monday). However, I wonder if they haven't called back because I'm "old," as looking at the website, most of the doctors up there seem to be pediatricians. So, some Googling around has turned up the Ehlers-Danlos National Foundation, and I thought I'd check out the website. Unfortunately, many of their articles require "free" registration that doesn't seem to be working right now. I don't know, of course, that I do have it, but I thought it might have some other places I might try to see if I can get tested. So, I thought I'd try here to see if anybody here knew anything about it...

I don't know, I think it would be really interesting if it turned out I do have it. It would make a lot of my injuries in the past, and my inability to treat them with "traditional" methods make a lot of sense. It would also probably change how we treat any future injuries I get. Also, I'd like to determine if I have it to ensure that I don't have the vascular form of the disease, if I do in fact have EDS.

Anybody heard of it? Know anybody with it? I figure it's a long shot, but this seems to be a pretty diverse group...

/tk

[Buccaneer]

Be wary of teh internets looking for a diagnosis.

[terpkristin]

Originally Posted by Buccaneer

Be wary of teh internets looking for a diagnosis.

I know. It was the doc who suggested I might have it, I'm looking more for info on where else I might go (other than Hopkins) to get tested.

It would make a lot of things make a lot of sense, but it could also be that my joints are loose haha.

/tk

[Eaglesfan27]

I read about it in med school, but I remember little more than what was summarized in your initial post. I think that I recall that it is usually diagnosed in childhood which may explain their reluctance in getting back to you (or it could be a poorly organized office.)

[Drake]

A poorly organized medical office? No way!

[terpkristin]

Originally Posted by Drake

A poorly organized medical office? No way!

Gosh, some of the stories I could tell about poorly organized medical offices...

For this group at Hopkins, it seems it might have been the case. I called back today, since it'd been a week and I hadn't heard anything, and this time I talked to a real person, who took a bunch of my info. Apparently now a genetic counselor will give me a call to get more detailed info on some of my history and then I'll schedule an appointment.

/tk

[DaddyTorgo]

so this would explain why you're like Samuel L. Jackson in "Unbreakable?"

*rimshot*

[wade moore]

fwiw - my brother (lordscarlet on here) got a very good (by my understanding) consultation from Johns Hopkins for a different, rare, medical condition.

[lordscarlet]

Yes.

[terpkristin]

Originally Posted by wade moore

fwiw - my brother (lordscarlet on here) got a very good (by my understanding) consultation from Johns Hopkins for a different, rare, medical condition.

I've actually met your brother. Next time we do a DC meetup, you should come up.

I've had 2 experiences with Hopkins so far (well, in one the doc was still affiliated somehow, but his group was moving to Mercy Hospital which I think is, for teaching purposes anyway, affiliated with the University of Maryland Medical School). One was for my hand, where the docs there apparently missed the bone spur I had and told me I didn't have arthritis, so that wasn't the greatest time. The other was with my ankle, and the surgeon was great (he's the guy that fixed T.O.'s ankle), though the anesthesiologist wasn't.

Just from reading about about the genetic medicine group at Hopkins, they seem to be doing a lot of cutting-edge research and have a lot of top docs, so I can't think of a place I'd rather go to figure out if I have EDS.

/tk

[sterlingice]

Originally Posted by DaddyTorgo

so this would explain why you're like Samuel L. Jackson in "Unbreakable?"

*rimshot*

(you know, it's kindof true with tk...)

SI

[terpkristin]

I'm getting ready to write a blog post about this, but I figured I'd update this. I had my appointment at Hopkins on the 16th of September. The genetics doc I saw thinks I do in fact have Ehlers-Danlos, which I guess isn't much of a surprise. The doc isn't certain which type I have, it's down to three choices. One of the types it could be leads to premature death. Luckily, there's a "gold standard" test for that type, which he did, so I'll know that in mid-December. He thinks it's unlikely that I have that type, but since he can't tell for certain, it made sense to get the test (a skin biopsy). As for the other 2 types, they're not fatal, though since he can't determine which type it is, we're going to assume it's the worse of the two.

Going to Hopkins was an...interesting experience. I guess it's good to know why my joints have had so many problems, and what the implications can be down the line.

/tk

[Eaglesfan27]

My thoughts and prayers that if you have it, it is one of the better variants.

[CU Tiger]

Not sure how I missed this first time through, but my wife's young cousin (guess he is 17-18 now) was diagnosed with this very young.

He is hyper flexible and has some form that in addition to his joints makes his skin extremely supple and elastic. Like at 10 you could grab his arm and pinch skin and pull up a foot of skin but yet once released it was tight to his bones. Though anytime he got small cuts they never healed, and left exagerrated scarring. Apparently brittle bones accompany as he had numerous issues trying to play youth and eventually junior high football.

Other than that though he has lived a happy normal life

[Glengoyne]

Whatever you do, if a Dr. House calls you back, Don't go. You'll end up hemorrhaging from orifices that shouldn't hemorrhage, all of his patients do.

[stevew]

Originally Posted by wade moore

fwiw - my brother (lordscarlet on here) got a very good (by my understanding) consultation from Johns Hopkins for a different, rare, medical condition.

Are you guys identical twins?

[Lorena]

Originally Posted by Eaglesfan27

My thoughts and prayers that if you have it, it is one of the better variants.

+1

[MikeVic]

Praying for the best.

[sterlingice]

Originally Posted by Glengoyne

Whatever you do, if a Dr. House calls you back, Don't go. You'll end up hemorrhaging from orifices that shouldn't hemorrhage, all of his patients do.

And have at least one seizure per episode.
And be guaranteed they go about three wrong guesses deep before figuring out what you have.

SI