Saturday, November 24, 2007

Meeting with a Genetic Counselor...

The next step was meeting with Michelle, a genetic counselor. She was very kind and asked if we had any questions, ANY QUESTIONS??? All I had were questions and virtually NO answers. I tried to collect myself and I asked her what the prognosis would be. She said she did not know and recommended an amniocentesis to try and find the cause of these problems. She explained that a needle would be inserted into my abdomen and about a tablespoon of amniotic fluid would be extracted. Sonogram would guide the needle to keep the baby safe. This test would tell us if the cause for the abnormalities was chromosomal.

I had gone to this office dead set against the amnio but was considering it. I asked how it could help the baby in the long run and she said it would help by helping us to prepare for what was to come IF the problem was in fact chromosomal. If a name was given to the diagnosis they would know what other problems to look for and I could plan on and prepare as needed. I was confused. I asked about the risk as I had seen the risk for this procedure to be 1 in 200 babies lost. She said at this particular facility the risk was 1 in 1000. I told her I needed more time to consider it. I then asked about the clubfoot. She said it was definitely treatable. I asked about his heart...they said there "might" be a hole in his heart. I wasn't sure what to do with a might. She said she could talk to the cardiologist and see if we could get in for a fetal echocardiogram. I said I would appreciate that. That left the problem with his underdeveloped brain. At this point it is about two weeks small. This is the BIG problem. IF his brain continues to develop that would be a very good start. If it does not there would be little hope. At this point he would be born in a similar state to Isaac.

She said we could go see the cardiologist and she would meet with us afterward so we went.

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