We now have a diagnosis: Dash has an in-frame deletion of exon 30 and this is "consistent with Becker diagnosis".

This is relative good news for us and him, I suppose - not great, but not Duchenne. It's interesting, because although this means he is luckier than some, I was right there and ready to be told that it was Duchenne - and that feeling hasn't really GONE anywhere. I still feel furious at the injustice of it all, desperate to do something. Whether my own child is severely affected, or not - I've learned so much in these past months, gradually, about this disorder and how devastating it is, that I need to use that energy for something positive. 

We have no way of knowing how things will unfold for Dash. Right now, the only symptoms he has are getting wiped out pretty quick, large calves, and some aches and pains in his thighs and ankles here and there. I've read about cases that can be like this, at this age, and loose ambulation in the teenage years. I've also read about better prognoses - who knows. And so I'm going to do something. I haven't been this fired up about something in a long time. I literally knew nothing about this disorder up until a few months ago when the consultant at Kings College couldn't find anything wrong with his liver and said "perhaps some kind of.. myopathy?" and ran a CK test. After that, I went home and googled ALTs and CKs and started reading about MD. What an eye-opener. I had obviously heard about muscular dystrophy, but that was pretty much where it ended: the name. I didn't know it only affected boys. I didn't know anything at all.

We all get our kicks in the butt someday, and I think this is really mine. There's nothing more motivating than fighting for your own child's health and future, right? (I'm not quite sure WHAT I'm going to do just yet, but watch this space!)

Views: 159

Comment

You need to be a member of PPMD Community to add comments!

Join PPMD Community

Comment by Andrea Cleary on December 18, 2013 at 8:37pm

You go girl! (just save some energy for yourself or you will be burned-out).

A.

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2019   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service