Thursday 27 May 2010

a diagnosis...17q21.31 microdeletion

there is a lot in a small amount of missing DNA/chomosome - apparently - but considering how catastrophic other missing/warped/failed bits of DNA can be, this one is, really, getting off lightly.

Ix will not die young from this, given he is healthy now, he does not have any heart/kidney issues which can be associated. he does not have seizures....

"17q21.31" - bit of a mouthful...hmmm, maybe a new name is needed?

http://17q21.com/en/index.php
lays bare the features... 100% cognitive issues...

but this one is nice -
"Behaviour is typically friendly and pleasant""this is the Ix I know -

sure there are the autistic behaviours - but by and large he likes people - and that is a very valuable trait.

it's been a long road - the first years of desperate searching for answers, then quietly rumbling along in the background...waiting for genetics to catch up...hundreds of appointments...

and yet it is a good time to get the answer. I know what the prognosis is already, his level of need - this gives peace of mind really.

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