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.