When we were first adjusting to life in the shadows of Duchenne, we didn’t know what to tell William or how to explain what would happen to him physically. He was 5. How does any parent know what to say to a child whose future has been irrevocably changed? My explanation at the time felt lame. I told him that his muscles didn’t work like other kids and one day he might need a wheelchair to get around but doctors and researchers were working very hard to find a way to help his muscles stay strong. I didn’t tell him he would stop walking before the age of 10. I didn’t tell him cures are complicated and that everyone’s DNA and body chemistry make it difficult to find that one magic pill. How could I? Chris and I were devastated, heartbroken, and scared. We worked hard to keep this from William and give him “normalcy.” He was a baby after all.
William asked me one night before bed to put a sticky note on the bookcase near his bed. He wanted to know right away if they had found a cure as he slept. So that night I wrote, “No cure found overnight, but they are still working.” This note has been there ever since, saying the same thing. As I wrote it out I thought I would never write “They found a cure William, you are going to walk again!” Never! I didn’t actually have hope or believe that the future was anything but bleak.
I was wrong.
First, life despite DMD has been normal, DMD is our normal and life is good.
Second, I am not a liar anymore, I have hope! Yesterday Sarepta Therapeutics announced that they were submitting a New Drug Application to the FDA for Eteplirsen; a potential therapy for skipping the broken Exon that prevents the muscules from producing enough dystrophin. In this case, Eteplirsen skips Exon-51 (William’s version of DMD is an in-frame deletion of exons 45 and 46). While this drug isn’t an immediate cure for many boys it’s an important milestone for all.
Pat Furlong, president of Parent Project Muscular Dystrophy said it best in her blog posting yesterday, “This is a great day for the Duchenne community. Where at one time we saw nothing but a hopeless end, now we see nothing but endless hope. We are thankful to this community for all the work it has done together to raise awareness about the urgency to find treatments for all patients.” Yes, Pat, yes!
For the many wonderful people who have supported PPMD on William’s behalf, thank you! You have given us and all families that live with Duchenne the gift of hope, and that is a gift not easy to come by.