November 23, 2010

Genetics Report

Today, Charlie had his first appointment with his geneticist.  She saw Charlie in the NICU but her office has not had an opening for a follow-up appointment until now.  It was a very informative visit where she spoke of Charlie's Craniosynostosis as it relates to his other health issues - mainly the heart and kidney issues.  As you can imagine, she had an exhaustive list of questions about Charlie's family history. Charlie's doctor has narrowed a group of genetic syndromes that Charlie may or may not have and sent him for a blood draw for further testing.  The reason to find out if Charlie has a genetic disorder or syndrome is, of course, to better plan his care.  Forewarned is forearmed! 

Charlie's doctor explained that the initial blood tests he had in the NICU were to discover whether Charlie had all his chromosomes accounted for - not too many, not too few, etc.  Those tests came back fine.  She went on to explain that the initial tests can be equated to flying over a city in an airplane so that you can see and account for all the buildings.  These new tests will be able to determine if the proper mail has been delivered to each of those buildings.  So, Charlie is having the mailman tests and will have his results sometime around Christmas. 

In other news, Charlie has been showing strides in his physical development this past week.  For the first time ever, he planted his feet and pushed his body into an erect position.  Hard to do when you weigh 17 and a half pounds!  His head is still very wobbly, but Charlie continues to work with his physical therapist to help him gain some head control.  His lack of head control is troublesome to his doctors but the Greenmans figure that he's got bigger fish to fry - for instance, rebuilding neuro-pathways in his brain.  As always, thank you for your notes and words of support! Charlie is lucky to have such an amazing web of love and care surrounding his every set-back and triumph.  Thank you!

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