Monday, June 09, 2008

Ehlers-Danlos Follow-Up

On Thursday night as I drove home from the gym, I got a call from the genetic clinic at Hopkins. It was the call I've been expecting for awhile, the call from the genetic counselor. She asked me a few questions, including:
- Explain your hypermobility (which joints, how do you know they're hypermobile, etc)
- Has anybody in your family ever died suddenly?
- Do you bruise easily?

The 2nd and 3rd were easy to answer (not that I know of and not that I've ever noticed). The first was a little trickier, as I know my shoulders are hypermobile, and I'm pretty sure my ankle would be considered hypermobile, but for the rest of my joints, I can only go on what doctors and physical therapists have said, which is that most of my joints move too much. Of course, instead of saying that, I talked about how my shoulders have had non-traumatic dislocations and subluxations, even after stabilization surgery, and how my ankle didn't take 3 surgeries with good surgeons, requiring my eventual fusion.

So now I have an appointment set with the connective tissue group at Hopkins for September 16th. The appointment will start with an echocardiogram (ultrasound of the heart), which is a little scary. Not that echocardiogram's are scary, I mean, but that there really could be something wrong with my heart. The more I read about EDS, the more...nervous I guess I am, but I'm trying not to read too much and trying not to self-diagnose. Come Sept. 16th, I'll hopefully know a lot more, and stop playing the guessing game. I guess we'll see.

2 comments:

Donna said...

Were you referred by your doctor to a genetic counselor? I, too have EDS and my family practice doc doesn't seem to know much about it.

kristin said...

Yes, one of my orthopaedists said I should get an appointment with the genetics group at Hopkins. I am fortunate that I live "near enough" to Baltimore that it wasn't out of the question (it's about 90 minutes from where I live, and my parents live closer to there). I'll be writing a post soon (maybe this weekend) about my visit, which happened ~2 weeks ago. I went to the McKusick-Nathans Institute of Genetic Medicine.