Friday, February 26, 2010

No cataracts!

We finally made it to the opthalmologist appointment yesterday, everything looked good. I don't think cataracts start this soon, but it's nice to hear anyway. Besides, I read that in most boys, even if they DO get cataracts, they don't usually interfere with their vision. And hopefully the Ataluren will be approved (and work!) before we have to worry about that.

Speaking of Ataluren, I asked a lady that works for PPMD if she knew anything else about the time frame. She said that results are expected in the first half of this year (let's go people, it's March!!!) and then approval early next year. The waiting kills me, BUT I have to try to remember that the boys with deletions or duplications have a lot longer to go till drugs are even in TRIAL. It's just really frustrating for all of us to have all this technology right on the verge but not HERE yet. It's a lot more hopeful than ten or even five years ago, though.

This morning Seth said something to the effect of "if Anna had what I have, then SHE'D have to take these medicines too!" And I told him that girls usually don't get it and tried to explain the genetics of it in a 7 year old way. And then he said, "is it bad?" I asked, "Is what bad?" He said, "what I have-muscular dystrophy." I'm not ready for these questions yet!!! I just said that it can be, which is why he takes the medicines and does stretches and therapy, which satisfied him for now. It's just one of those things where we don't want to tell him too much but also don't want it to be a big "reveal" moment when he gets older, either.

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