We've heard back from the genetics Dr. this week. The good news is Mike and I are not carriers, which is fortunate for the other children. The location of aggies gene mutation is so rare that there is only one other person reported with the same mutation in that location, but even then the mutation it's self is different. The Dr. wants to do another muscle biopsy so they can test the effect of the mutation on protein, allowing them to possibly project the effect the mutation will have on Aggie at a cellular level. We have an apt. with the surgeon in March. This news is two fold for me, as it is nice to know what is causing Aggies difficulties, but having to put her through additional testing/trauma makes my heart sink. As she grows older and stronger these things become more difficult, as her understanding is minimal.
She is loving school. We like it too. I am told that she is very popular, as teachers pop in to play with her. The only other little girl in the class has become jealous, I'm told. Aggie has no clue. She has started doing a swim class every friday at school. It is an 8 week program where they do therapy in the pool. A neat opportunity for her. It is a perfect amount of time allowing me to get most, if not all of school done with the other children before she returns home.
Saturday, February 2, 2013
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