I just became a registered nurse, and my ten-year-old son is infant-like, has frequent meltdowns, and cannot stand without support. He is missing a piece of DNA (chromosome 9q22.2) but we are unsure if it made him disabled. He has a diagnosis of severely multiply impaired, paucity of white brain matter, partial agenesis of the corpus callosum, microcephaly, deformities of the ankle and foot, and Autism.
Showing posts with label Fox g syndrome. Show all posts
Showing posts with label Fox g syndrome. Show all posts
Sunday, February 9, 2014
Pursue FoxG testing?
Andy's geneticist did not want to test Andy for FOXG syndrome. He felt the symptoms were all too general and that anyone could fit the symptoms. I disagree, and am not sure about how to further pursue testing. His neuro is saying Andy needs whole exome testing, but we are not going to pay 10 thousand dollars for this. I've looked online for a kit we could use ourselves for the fox testing, but can't find one. I might have Andy return to a past neuro and ask his opinion on further testing. Fox g was a test I felt would be worthwhile, but when professionals don't agree, I don't know what to do.
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