Sunday, August 19, 2012

Appointment Tomorrow

We have an appointment tomorrow with the geneticist. Back in June I had asked him to write up an order to have my oldest genetically tested (microarray/SNP) for any defects due to his Aspergers and Tourette's. He does not have a growth deficiency like Elenor but the neurological side of things had me concerned. I suppose I needed to know for sure that it was environmental. In a way I guess I needed to check and make sure I didn't play yet another hand in making a child who wasn't "whole". Elenor having MUPD 2 is extremely rare. Like crazy rare. And the effects of that mutation are really unknown because of that. A lot of kids who are on the Autism Spectrum tend to have mutations on chromosome 2 or elsewhere. Surprised me when he came back clean as a whistle. It doesn't mean that he doesn't have SOMETHING - SOMEWHERE - but it means that he doesn't have what she has. It was a relief. But felt confusing too. It was as if I was desperate to have been told that it was the cause so I could pin it on something. When we found out that Elenor's issues WERE genetic it felt like a weight had been lifted on me and put back on. Having any child with an issue is hard. And confusing. :( I will try and post her stats from tomorrow's appointment as soon as possible. I'm hoping to confirm whether or not she has low blood sugar. A couple weeks ago at her nutritionist appointment she was 20lbs and 29". Her head is 22". Updated picture: b6b56fc5

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