Genetics

Kai had a genetics appointment at Children's today. She was impressed on how well he is doing. He is doing better than what doctor's had expected. She seemed like she just isn't quite sure about her clinical diagnosis that Kai has DeBarsy Syndrome. Because there isn't a blood test to confirm it, there isn't a way to know for sure. She just seemed like she wasn't completely convinced, but that is what she is going with right now. He does however for surely have a connective tissue disorder and cutis laxa. She had brought up the idea of a possible progeria syndrome, but didn't really think so. So when he sees her again in 6 months, she is going to do this bone test on him to see how his bones are aging. I don't even like to think about this. It would not be good if Kai had some kind of progeria syndrome. Kai does have some progeriod features (for instance, he looked like a wrinkly old man when he was born). For those who don't know what progeria is...it is premature aging. So anyway...I think I will try to tuck that idea in the back of my head until we revisit that subject with genetics in the fall. So bottom line...we don't know for sure what Kai has...some kind of connective tissue disorder and something VERY rare. I think he has the doctors a bit puzzled! Maybe it's just "Kai Syndrome".