Carrier testing

My carrier testing showed that I am a carrier. Meaning either the mutation spontaneously happened in my genes, or my mom is a carrier, so my sisters will have to get tested. Anna will have to get tested too, since she'll have a 50% chance of being a carrier as well. They usually wait till adolescence, and if she is a carrier she will have to have an echocardiogram to make sure her heart looks ok, and then they keep an eye on it after that, since a small percentage of carriers can have heart problems. I'll have to have an echo too, so hopefully everything will be fine, there. It's kind of strange to think that I've had this in my body my whole life and had no idea. It was just sitting there, waiting. Ok, I know it wasn't waiting, but that's what it feels like.

As far as the Ataluren, the company that is developing it and PPMD are having a conference call on May 27 for an update on where the process is. I really hope it's good news. I mean, I know the FDA has regulations in place for drug testing for a reason, but if it looks like Ataluren will probably help a lot of boys, then I don't see why we can't just have it!!! It's very frustrating. I hope they don't have to do MORE trials...but if they do I hope Seth can get in and that they don't do a placebo arm this time. I would hate to have to go through all the visits and blood work and muscle biopsies just to find out he wasn't even getting the medication.

Anyway, those are the main updates right now. I plan to post more fun stuff soon. :) All about our crazy puppy and the crazy kids.