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.

Eclipsing MD

This week I had the opportunity to help out at a fundraiser for Parent Project MD.  Anessa, a woman who lives in Grand Rapids whose 11 year old son has Duchenne, knows the Loeks family who owns Celebration Cinemas, and worked it out so that the West Michigan premiere of the new Twilight movie would be a fundraiser for PPMD.  I wasn't even planning on going, really, but another woman who was working with Anessa asked if I could come help.  And even though it was SO out of my comfort zone (meeting people I don't know, going by myself), I went, and I'm glad I did.

When I first got there, I couldn't find the woman who asked me to come so some people just shoved me somewhere, and then when I did find her she had me cut some cake...I don't think she really even needed me, but maybe she just wanted me to meet some people?  I don't know.  But I did meet some people, most amazingly, Pat Furlong, the woman who founded PPMD.  I got her story-her two sons were diagnosed in 1984, and at that time they didn't do anything for DMD boys.  She didn't like that, so she borrowed $100,000, went all over the place and just got a bunch of things going, basically (obviously there's more to the story than that).  Her boys died in the mid 90s, but she's still very involved in the cause.  A lot of what's going on today is because of this one woman.  It was awesome to meet her.

I also asked her about Ataluren...she has worked very closely with the company and she told me very encouraging things-that she really thinks the drug works, and although Seth wasn't in the trial and won't be able to have access right away, she believes it will come "soon" (I put that in quotes, because unless it's tomorrow, it's not soon enough for me, but compared to any other treatments, it's pretty soon).  I really hate to get my hopes up, but, well...I have.  They are just working through the steps they need to take for the regulatory path-to get this thing approved so we can drive our little car to the pharmacy and give them our little insurance card and they will give us the medicine. 

The whole event ended up raising $136,000, which is amazing.  I am just in awe that somebody can even pull something like that together!  I think I'm more of a helper than a planner.  I don't even have the first idea how to start, let alone having those kinds of connections!  But I know every little bit helps.  (speaking of-if you're so motivated, you can follow one of my links to the right and donate...the MDA is a great organization in a lot of ways, but PPMD is focused on Duchenne and Becker MD only, so donations to that organization are more likely to benefit boys like Seth, whereas the MDA supports a wide range of neuromuscular diseases). 

I also got to meet a couple of other families.  It's just nice to talk to people who know exactly what you're going through.  Like I said, even though I was way out of my element, I'm glad I went.