MDA clinic

Seth had MDA clinic with Dr. Chadehumbe today-he looks pretty good!  I always feel like I should have more questions-other people probably have more questions?  I just feel like right now he's doing fine and I have a pretty good handle on the stage he's in at the moment, so...she was pleased with his weight and height, which was an inch and a half up from the last time, which is pretty impressive!  So, so far, two of the big side effects of the deflazacort, growth stunting and weight gain, don't seem to be a problem-it helps that he's still pretty active.  It still seems like he is way shorter than other kids his age, but I've always thought that.  He's just below the 50th percentile for height.  I think kids around here just tend to be huge-all that Dutch heritage, maybe?  :) 

We also talked briefly about the PTC124/Ataluren-she didn't really have much to add, but it almost seemed like she was less optimistic than Pat Furlong about the timetable and when non-study boys could get it.  Have I mentioned how frustrating the whole thing is???  GIVE ME THE ATALUREN!  NOW!!!!!!  Sorry.  I am really, really trying to embrace the one day at a time philosophy so I don't start getting too anxious.  Dr. C thinks the medication works, too, though, which sounds like the general consensus in the community.  We did see a boy who we met at the telethon last year who was in the study-I remember his dad saying they were encouraged by his progress while taking the med.  He is 12 and not yet in a chair full time-he did look like he was slowing down quite a bit, but still getting around, so that's encouraging as well.  It makes me feel like maybe if Ataluren doesn't get approved for another year or two, it might still be ok. 

At the end of the visit the MDA lady came in and talked about camp AGAIN.  She wasn't so excited this time, probably because it just ended for this year.  I think that maybe Seth should go next year.  It does look fun.  We'll see, I suppose.