Monday, May 9, 2011

Ehlers-Danlos Syndrome

I didn't want to mention anything until I knew whether or not it was true. A couple weeks ago, a friend who happens to be a doctor noticed how flexible my fingers are. This wasn't news to me, I've had really bendy joints my whole life. What I didn't know is that "really bendy joints" can be a symptom of a genetic disorder. Doctor-friend told me to mention this to my surgeon, who responded with "Well. That would explain a lot. Let's send you to Dr. BlueEyes, he's somewhat of a specialist in this disorder". So this morning, I went back to Dr. BlueEyes. He performed an exam and I scored a 9/9. I had my sister with me, and she also scored a 9/9. We think our brother has it as well. Essentially, there is a mutation in one of the genes that makes collagen. So a lot of our structural parts don't work right. Tendons, ligaments, scar tissue, etc. So the reason my ankle has been behaving this way? It's because I have Ehlers-Danlos syndrome. There are some long term issues with this disorder. First and foremost, there is connective tissue in your heart (among other places). I am scheduled for an echocardiogram on Monday because people with EDS are more likely to have mitral valve prolapse and aortic aneurysms and all sorts of neat things. Also, Dr. McGorgeous won't operate til I get a clean bill of heart health. Also an issue is pregnancy. If I get pregnant, I will be considered high risk, since I will be more prone to miscarriage, as well as uterine prolapse and hemorrhage. This all sounds really bad, but to be honest, I'm more relieved than anything. At least after all this time I finally know WHY this is happening.

1 comment:

  1. WOW! at least u finally know why and its not just ur body refusing to recover! good luck with the echo and fingers crossedyou get a good bill of health so the op can go ahead!
    i saw my surgeon and he reckons that the bottom screw in ankle was irritating the skin above it and it caused an infection, so the more walking i did the more irritated it became!!! its pretty painful today but i have taken no painkillers. should be starting physio in next week or so.
    good luck again for monday, ill be thinking of you :)
    Elaine x