So I’ve said before that Grace’s particular mutation is r168x. It’s the second most common type of the 12 types of Rett Syndrome (I think there are 12). But it’s the first most debilitating as far as I’ve gathered. It’s the one where Rett parents in the know will say “ooh that’s the bad one”. The x-mutations are the ‘bad ones’, although the geneticist told me that it’s not one of the ones the most commonly associated with sudden, unexplained death. So tell me then…if there’s a type that’s associate with sudden death and this one isn’t it, how is r168x the ‘bad one’? Seems to me the one that could kill my daughter out from under me is the truly bad one.
I do understand that by ‘bad’ people mean that it’s the most debilitating. Grace’s friend Amy had a post this week with a photo of another little girl with r168x on her blog and her mom was saying how she could see such extreme similarities between the two of them that it was like looking forward in time. But that’s how I feel about Amy! It’s like looking at Grace in a couple of years.
Clearly, the girls with r168x (I don’t know about the other mutations at all) are in a group of their own with striking and undeniable similarities. Sadly, one of those is that is doesn’t seem that they don’t seem to learn to sit or stand or walk. But they sure as heck do laugh and live and love and that’s going to have to be enough for me.
P.S. If your daughter has r168x, please comment below and tell us about her (including her age). I’m sure all of us r168x-ers would love to connect and know what may be ahead and the ways in which our daughters are the same and different.