Genetics today!

Well I have to be the worst blogger around!! Is there a bloggin 'frequency' rule???

Anyway, thanks to a reminder from a lovely lady (miss crazylady!) - here I am to update you all on the latest 'Ryan' saga!!

Today we met our geneticist along with a new 'Overgrowth Specialist' whom we'd never met before..........our old geneticist is handing ryan over to her as 6 years of dealing with our medical enigma has sent her over the edge!! Only kidding, but handing his case over makes sense as this new doc has many years experience working with kids with overgrowth syndromes - I'm gonna refer to them as OS from now on as that's a mega pain to type!!

So, she went through the usual hundred, million questions that we've answered AT LEAST a hundred million times before!! She was lovely about it all though, stopped and explained the significance of certain things, was happy when we interrupted or digressed..............for anyone who knows Craig, ask him about 'Ryan just being a wee baby'!!! *sigh* MEN!! She did the horrible ten minutes of describing him (whilst the original geneticist wrote it all down!) his ears are odd, large eyes, hands are wrong, feet are wrong, chest is wrong, Ryan is wrong.............you get my meaning..........but other than that bit she was pretty decent!!

She spoke to us about risk factors if we wanted to have another baby. Both geneticists feel its a de novo mutation he has which means its a one off - not something that has been passed from either me or craig or me + Craig. That in itself is such a huge relief, not sure really why but it is!!

The exciting part of all of this though is that the OS feels that there at least 6 other children within the OS Study who have very similar features and developmental issues as Ryan. No info is available on this yet and is unlikely to be for a good while but knowing that there is hope for an answer and maybe families who are in the same boat as us is very, very comforting!! We've 'signed on' to be part of this study too so we'll know more when the info comes through telling us all about it..............

So that's the latest - I think - I'll try to be a good blogger and be back soon!!

Julie x