Update on appointments

First we had genetics, which was kind of a waste of time. I mean, they told us where Seth's mutation was and how I could go about getting tested to see if I was a carrier, but both could have really been done on the phone. Whatever, I guess. I hope insurance pays for all of it at least.



Then we saw Dr. Chadehumbe, talked about the mutation again...and she said that she thought it would be about a year before the PTC124 (oh, I guess they're calling it atalauren now) would be available, but that it seemed to be working really well and everyone was really excited about it. I can't wait. It isn't a cure by any means, but it really slows the progression and then the disease presents more like Becker's muscular dystrophy, which is much less severe and has a much better life expectancy. She seemed pleased with Seth's flexibility and time scores (she times him getting up from sitting and running down the hall), so everything we're doing seems to be helping. I just want to maintain as much as possible till we can get our hands on the atalauren.

It seems so weird to be happy about a mutation at all. But when your son is diagnosed with DMD and you start to research, you just hope hope hope that he's going to be in that 15% that have this type of mutation, but not really thinking he will be. But he was! It feels like we're finally getting a little good luck.