Jack did so well at Genetics. Dr Mirzaa is wonderful and we are grateful grandma Tamie could there with us. It looks like Jack has the Emery Dreifus Muscular Dystrophy gene and I am the carrier. He also has CAMTAI gene that spurred off from his own genetic makeup which is more reason for the rare issues he has. They have to do a specific staining of the muscle biopsy that was left over to check for Emerin protein and if its absent that will give them an official diagnosis. We are spent but grateful for some kind of answers now onto the next steps and getting my own medical issues addressed with my neurologist since we were waiting for this answer and to check Lily for carrier status. Long day so grateful for everyones support and positive thoughts xxxx love you all
Posted on: Mon, 26 Jan 2015 23:49:43 +0000
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