Wednesday, 29 February 2012

Merryn's Results.....Well Not Really

So it's been something like 6 weeks since I finally bit the bullet and decided to get Merryn tested.  I thought it would be a quick process, the results would be back in no time, and it would be all clear.  I mean she's so amazing, crawling, feeding herself, waving and clapping.  So very different to her brother.  But of course that's not how it goes.

Today I went in to finally find out the results.  I went in two weeks ago but at that stage the GP told me they'd only found on allele and they had sent the blood off to the genetics lab to do more testing.  That made me nervous at the time because if they couldn't find the other allele that could be because it was too extended to find and she had FXS.

Side Bar: So we all have two alleles, boys X and Y and girls X and X.  When  looking for fragile X in a girl you have to test both the X's to figure out what's going on.  When the X allele is extended by too many repeats on the end of it then you have FXS.  There is more info about this in my Fragile X page.

So I've been nervously awaiting the results and getting more and more worried as time has gone on.  Today's results haven't made me feel any better, in fact they've worried me even more.  They have said they could see there are repeats, she has FXS, but they don't know how many and they want more blood.

I don't really know what this means.....Is she pre-mutation, is she full FXS, since one allele is good how does that work for her?  Tomorrow I will take her down and have the poor little love stuck with a needle so they can take more blood.

And then we wait......again......

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