Friday, March 27, 2009

DNA Sequencing Results

September 8th, 2008 (or very close to that date)

We received word from the metabolic clinic that Sarah's DNA sequncing results from Baylor did not reveal any mutations on the CPT 2 gene. She said that this was very good news.

The DNA test had been requested through the children's hospital in our county. Due to our switch in insurance, the results were being sent to the Kaiser metabolic clinic to be reviewed. We had not met the Kaiser metabolic team yet. We had to wait until the 10th to meet to discuss the results.

I was so excited. We had been praying that she would not have CPT II. Others had been praying that she would be healed but I didn't know how that prayer would really work considering we didn't even know if she had it in the first place. There would be no way to prove she was healed because we didn't have proof that she had it.

Whatever our prayers had been, I was excited because this seemed to prove that Sarah was fine. The chances seemed in our favor. The doctor had said that there was a 70% chance that the DNA results would find a mutation if she had it. There was a chance that she could still have CPT II and it not show up on the DNA because she could have an unknown mutation or form of CPT II. In the latter case, Sarah could become a test baby to find the new mutation.

I decided to not give Sarah the elixir and just breastfeed for the 2 days we had to wait for the Kaiser metabolic appointment. I claimed that I would still wake her up every 3 hours just to be cautious, but I ended up letting her sleep longer. I wanted to treat her like a normal baby. She seemed great. She seemed more happy, played longer, and wasn't as tired. This also provided proof in my mind that Sarah was a normal baby.

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