Friday, July 24, 2009

Semi CHARGEd

Several weeks ago the nurse from the Genetics department at Texas Children's called me and told me that Elle's blood test was back from when they tested her for CHARGE syndrome. They tested the CHD7 gene which (so far) is the only gene that has been linked to CHARGE syndrome. We've always known that Elle is a one of a kind and truly she is because her CHD7 test came back with an "unidentified mutation of the CHD7 gene." Hmmm. The nurse told us that the next step would be for Lee and I to have our blood drawn and tested to see if either one of us is a carrier of the mutated gene. Lee got the phone call today with our results and neither one of us is a carrier of the mutated gene. Another hmmmm. As of right now, the doctors can't really say too much about our little princess. Yes she has an unidentified mutation of the CHD7 gene but no one knows how that will affect her or if they can truly call her a CHARGE baby. I am waiting on a phone call from Genetics to schedule our appointment. I am actually kind of nervous/excited/interested to hear what they have to say about Elle. They told Lee this morning that they will definitely be following her progress because she is a rare case. All afternoon since Lee told me about the phone call I have been thanking the Lord for what he has given us. I keep going back to the first time Elle failed her hearing test and I told Lee I was upset because I wanted a miracle baby with deformed ear canals but perfect hearing. His response to me was - "she is a miracle baby and the best part about it - is that she is OUR miracle baby"...Amen to that!!

2 comments:

Grma Anna said...

What a dear husband you have.
Love,
Mom

ellen charge said...

r u on the charge list or the foundation site ever you should contact meg hefner it is in the foundation website shes our charge genentist there r few peopel with genes similar to wat u jsut dexcribed contact her or have ur drs contact her