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.

Thursday 13 May 2010

May...



May began in Scotland...

and should contonue with mini-adventures along the way.

April saw highs - family times at Easter, excellent school reports etc...

and some lows involving issues with ix's after school carers and the ex, and ex losing Ix from his own flat - found a few streets away - and he still refusing to fit security chains etc..hey ho. so Ix's visits more limited but girls' visits going ok - apart from he force feeding them eskimo oil which they hate and is rather loose with timekeeping - but hey.

but onwards and upwards...