Thursday, September 29, 2011

The Carrier and the Mutant Genes

We finally found out who has and who doesn't have the gene that's screwed up my little girls chances at a life of not being afraid of the mildest friction.

Renata has had a few rough days in the quiet moments when no one is looking or when the children and I are otherwise occupied.  I've caught her with the sniffles and water marks under her eyes quite a few times.  Almost as often as the first few months of her life last year.
I wasn't a big fan of finding out this information as it makes no difference to Raquel now, only that one or both of us will be seen as the bad egg.

Ren is the carrier of the recessive gene.
I on the other hand am normal.

The geneticist told Ren that gives us three different ways in which Raquel got EB.
The first one is that the gene from me mutated just then a one off of sorts. 
Which is mind bending when I consider it.
I have no idea if that's to do with Environmental Factors (such as my work sometimes with crazy solvents, etc.) or what?
I was previously convinced it was me with the carrier gene and Renata had some mutation because when Chernobyl happened they didn't tell anyone in the eastern block to hide, stay in doors etc. and she was radiated.
This isn't the case.
The second way, I've already forgotten.
Probably because I'm so concerned about the third possibility.
Which is -
I'm not the father.
Serves me right I guess.
For all those weekends I'm off sailing, biking, fishing, camping etc. etc.

The chances of us now joining to create another child with EB is probably much less than 1:1000000.
If we were both recessive carriers then it's 25% every birth.
Unless it's the third option, which is likely much much larger then the first number but hopefully in a societal sense much smaller than the second.

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