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The reason for 's PMG is unknown (but then, it's never been suggested to

me that tests be run to determine the cause). His younger brother is totally

normal (a little too bright - at 4, he already takes me aside to explain how

things really are!). I had not heard of the 25% before chatting to you guys and

no one had ever mentioned it to me. In fact, no-one has ever suggested that

either I or my ex-husband be tested before having other children. As far as I

was concerned, Josh's PMG was just a freaky chance thing.

genetics

Hi, all,

So, just to pursue this thing, has anyone in the group with more than one

PMG kid had positive identifications of specific gene sites associated with

PMG which your children had in common? (Judging from most of the reponses,

it seems like no one -- at least in this group -- has ever found a

recognizable gene deletion in their child or children, much less one that

both children share...)

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  • 10 months later...

hi

when testing sophia they told us it will take time as they have

culture the cells for testing ,but only told us she has pmg not

which type seems to me that the testing is hit and miss some one

will tell you that it was a 1 off while some else will say that it

is genetic other will say it was caused by a infection , who do you

beleive , we are trying to see dr pilz but there is a long nhs

waiting list as always

but this site has been great as we are probaly getting more info

then our local genetic dep as it seems that pmg is very rare

and the power off the internet has brought every one to 1 place to

gather info the only thing that i have noticed is america seems to

have a bit more info than us brits maybe because of dr dobyns ,

carl and sarah uk cheshire

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Carl and ,

I agree with you, our friends from the states, in this group seem to be a

lot more informed.

Doctor Dobyns name crops up a lot in the postings, he seems to have an

interest in the research side of PMG,and not just the diagnosis and follow

on treatments for the illneses that go with it.

Maybe NHS funds don't stretch far enough to be able to do research in more

rare occuring conditions such as PMG,...... that does'nt help us tho, does

it!!!!

I wonder if Dr Dobyns would be interested in taking a look at our kids MRI's

?

Just a thought.

Mel, mum to Louie(9yrs,PMG,Epilepsy) UK,Lincolnshire.

>

>Reply-To: polymicrogyria

>To: polymicrogyria

>Subject: genetics

>Date: Thu, 16 Dec 2004 13:08:44 -0000

>

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