Look Ma, no training wheels!!!

We weren't pressuring him on the training wheels thing-before we just thought he was too cautious, but with his diagnosis we thought maybe he just didn't have the core strength to balance. Last night all the kids were out and and he just picked up one girl's little bike and started trying to ride it. All it took was some pointers from another girl and he was off!



Chappie lowered the seat on his bike so he could try it...he was a little nervous at first...

But then he took off!

Maybe if you click on this one you can see the tongue sticking out-a sure sign he's really concentrating:

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.

First day of school!

Seth was excited to go back, but Anna was a little nervous. She got right on the bus though (which, by the way, was not the same bus we rode on orientation night, which was due to road construction, but thanks for telling us!!). She was a little tired that afternoon and had a good emotional hour because we couldn't find her fairy barbie.

Hey, guess who got a note home on the second day of school? Not this innocent kid:

WHERE IS MY FAIRY BARBIE???

Good news?

They were having a local broadcast of the MDA telethon near us so we decided to go. We talked to this family whose 11 year old is the Goodwill Ambassador for Michigan, and they were really nice and the mom gave me all her contact info so I could call her when I was ready. Her son has the gene mutation that 15% of boys have, a point mutation, also called a premature stop codon. Other boys with DMD either have a deletion, a large part of the gene missing, or a duplication, were a large part of the gene is repeated, but a point mutation is (from what I understand, it's kind of over my head) is one where there is just an insertion of an extra amino acid on the protein, or something else small like that.

So, Dr. Chadehumbe (Seth's neurologist) was there, but was on the phone bank at first. So we went out and played awhile (it was a go cart/video game place) and eventually she was out there and she stopped me and told me that Seth's blood work is back (FINALLY!) and that HE has a point mutation as well.

The reason that's good news is because there is this medication, PTC124, that's in clinical trials right now, and at the moment, it's the best thing out there in terms of it showing promise in helping DMD-I'm not sure what exactly it does, but it's much farther along than any of the other research out there, and it's an oral med, while the other ones in trials are injectable or IV at this point. Unfortunately, this phase of the trial is full, so I don't think he'll be able to get in, so I'm not sure when or HOW we can get this medication, but I would like it NOW (sure, they have to test for safety...blah blah blah :). The trials have been in Cincinatti (Cincinnati? I always spell that wrong), so not horribly far away.

We have an appointment next week with the neurologist, so hopefully we'll have more info then.