Saturday 9 February 2013

New Diagnosis for Zemiel

Since the year end, I've had 3 weeks holiday and 4 weeks back on the job. Along with some staff changes it looks like it could be a good year.

In breaking news, we've received notice that Zemiel has a new diagnosis, called "22q.11.2 deletion". It was found that he had a deletion on one of his chromosomes. The deletion involved is connected with learning difficulties, speech delays, facial deformation, cleft palate, deafness, heart disease, hypocalcemia, kidney problems, and a good deal of other not-so-pleasant things to think about. My research suggests it affects between 1 in 2000 - 4000 children. It is almost as common as Down Syndrome and the vast majority of cases are new to the family (not inherited).

Ultimately, while this is a bit of a new thing to digest, we are glad to get some definitive answers finally. Also, after looking at some of the symptoms possible for this type of deletion, we are feeling incredibly blessed to have a child as functional and healthy-looking as Zemiel.

I have put a link to the 22Q Foundation website off to the side, if you would like to know more.

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