20 May 2008

Loose joints

With relative frequency one of my PIs points out small genetic aberrations I have - apparently my pupils are unequal, I have (benign) nystagmus and my nasal openings are narrow. If I had been developmentally delayed or ill these might have been taken in aggregate to try and identify a genetic diagnosis.

The latest finding was less direct. We were meeting a new patient and Dr. __ kept pointing out to me little things this girl could do that were more flexible than average. She could bend her fingers 90 degrees (see photo, my finger - you try), her elbows rotated more than 180 degrees and she would W-sit (sit like the japanese, then put your butt on the ground between your heels). I can do all of these things. At this point I am silently panicking... whatever this little girl has, I clearly have it too. Connective tissue disease? Autoimmune? I'm really a genetics case after all?!

None of the above. Turns out, to the degree we (little girl and I) have this flexibility is unusual, but not harmful. It can cause "clumsy kid syndrome" and mildly delay fine motor development, but prognosis is: normal kid. I've never been so glad to be normal.

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