Tuesday, July 13, 2010

Genetics Appointment

It's been several weeks since our last appointment with Dr. Proud at CHKD.  Everybody is SUPER happy with Klaw's progress.  He is just over 15lbs and 25" long.  His height/weight ratio is in near perfect proportion.  He flirted with everyone (including the phlebotomist right before she stuck him!).  His heart sounds great and his liver felt just fine.

The did take a urine sample & more blood so that the could check his l-carnitine and c-14 levels (I expect them to be his "normal").  We are also going ahead & getting his DNA profile done so that we can see exactly which VLCADD mutation we are dealing with.  Evidently, story of our life with VLCADD, Tricare will not want to cover this and we will be fighting them once again.  Yay.  After we get a read on Klaw's mutation, Chris & I will get our DNA profiled to find out which mutation(s) we carry.  I can't really explain it better than this, but the different mutations correspond with different "types" of VLCADD and will give us a better idea of what we may or may not be facing down the road with Klaw.  Dr. Proud let us know how much this DNA workup will cost out of pocket for Klaw - I don't want to even repeat it here.  Yes, it's that bad.

Yes, I know I need to post more recent pictures of Klaw.  I'll get on it soon, I promise.
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