Well, at the ripe old age of 46, I finally have a name for what's going on with me, and it only took a DO (osteopath) who asked the right questions and who had the right knowledge to figure it out.
Background--for those of you who know me, you know I have really, really flexible joints. I've probably shown you the "turn all my fingers 90 degrees and cross them all over sideways" trick. Or you've seen me with my shoulder rotated in, my elbow rotated out, and my hand resting on my thigh, pointed towards me. That, I have learned, is something that somewhere between completely freaks or grosses most people out, and I was just unaware that it evoked that reaction. Sorry--for me, that's a natural pose.
I may have also mentioned that I am an absolute terror to get blood out of, because my veins roll, wiggle, and otherwise utterly refuse to stay in place for the needle. And since I have very thin, very light skin, you can see the veins, and you can see what happens when it takes five sticks to get a bleed.
Maybe I didn't mention the multiple dislocations. Or I may have bitched that when Tatiana the cockatoo slides down Chuq's arm, it doesn't leave a scar that takes a year to fade. Me? I end up with big pink streaks that makes it look like I'm in a constantly losing battle with overgrown rose bushes. Hey, it's just that effing celtic tissue paper skin, right? And those bruises--more of the same, right?
So, when I had a physicial yesterday, and the DO started asking me questions like "so, can you touch your thumb to your forearm?" Well of course, that's why I was such a bear to spar against in Kung Fu classes--there's not a hold that you can't put on me that I can't "turn around in my skin" and get out of.
I scored 7-9 (the test for bending back the pinkie finger was unclear--does that need to be bending over 90 degrees backwards at the proximal joint?) out of 9 on the "do this" test. I also scored "at least one major and at least two minor" in the dislocation derby (shoulders, knees, right hip, and all multiple times).
And then he took out the stethescope and listened to my heart. And then he made me lie down and listened to my heart. Hello, benign idiopathic murmur--oh, you caught it--yeah, it's not always "there".
And he turned to me and asked me if there were other people in my family who could do the joint tricks. Yup--I could trace it straight up my father's side of the family--my father and his brothers were, as my mother would say "a bunch of bloody contortonists, the lot of them". And a couple of great-uncles who could used to do the escape artist tricks by dislocating their thumbs, elbows, or shoulders as needed. So yeah, familial, inherited, and I seem to be the only one in this generation who does the same "tricks". Oh yeah, a number of the same people made it nicely into their mid to late 80's, only to suddenly drop dead.
And then he asked me if I had heard of hypermobility syndrome, specifically Ehlers Danlos syndrome. Um, no.
You mean all this stuff has a name? And it all goes together?
And why the heck are you so interested in that murmur, anyway?
So, I win a trip to rheumatology for lots more testing. Mainly, they want to see what sort of hypermobility syndrome I have. The guess is Ehlers Danlos, of which there are a bunch of variations on. Upshot? My connective tissue isn't as tight and strong as it ought to be, because I don't produce collagen correctly.
The murmur? It may still be benign. It may also be a pointer towards mitral valse prolapse, which turns out is one of the worries with this syndrome.
Oh, and the other is aortic dissection. Think John Ritter.
Well, *that* sucks.
So, on the one hand, I'm rather relieved to have a bunch of this stuff tied up with a nice bow. At least now I *know* what's going on. I look at my family tree and see that since I don't smoke, and I don't have a bad habit of testing supersonic jets or ending up on the wrong side of a revolution in South America, I fit in with the group who lasted into their 80's
But if the diagnosis goes in the direction indicated, given I don't walk in front of a bus, I've pretty much been told how I'm going to make the exit. That just has me saying "huh" right now.
I guess it's going to be an interesting April....
Posted by lsefton at April 9, 2004 11:04 AM