A little over three months ago, Andrew and I walked away from the London Health Sciences Centre holding a brown paper bag containing six boxes of Translarna. Also known as ataluren, Translarna is the first treatment of its kind for Duchenne muscular dystrophy, and Max is one of the lucky boys who is eligible to take it. I say he's lucky, but like 13% of boys with DMD, Max has a nonsense mutation on the dystrophin gene: one small mistake in his genetic make up which means that any dystrophin his little body tries to make is discarded before it's able to be used, causing his muscles to slowly weaken and for our beautiful boy to waste away while we watch on, unable to do anything to help him.
When you're told that your child has a fatal disease that has no cure, your world falls to pieces. After crying rivers of tears and experiencing the worst heartache imaginable, I became fixated on learning about treatments and I fantasized about the day a cure would be found, but it didn't take me long to make the painful discovery that the research process is frustratingly slow, and that there was a very real possibility that nothing would be developed in time to make a difference for Max.
After a couple of years of coming to terms with having this disease in our lives, I almost didn't dare to imagine that there could be some hope for Max. The disappointment would be too much to handle if I let myself think he might actually beat this thing, and then I had to experience the overwhelming grief all over again. But there was one treatment, Translarna, that was close. In fact, it was approved in Europe and some boys were actually taking it and reporting positive results. When we heard about Health Canada's Special Access Program which would allow us to apply for access to the drug, it seemed too good to be true, and then when we applied and were approved and had the boxes in our possession, it was a situation I hadn't even let myself dream about. But would it work?
Well, we are just over three months down the road and I'm pleased to report that we are noticing a definite improvement in Max's abilities. He's able to climb to the top of the playground equipment without any help; he can sometimes go up and down stairs without holding onto the bannister; he's walking longer distances without holding our hands, and this morning he RAN all the way to school without falling over! He recently started soccer lessons and he hasn't fallen down on the bumpy field, and both his school teacher and Beaver Scout leader have commented that he's able to do things he wasn't able to do a few months ago. And all of this with no side effects!
For a kid without DMD, these feats aren't significant or in any way noteworthy, but for a boy with Duchenne they're huge. It means he can keep up with his friends for longer. It means he can be included in sports. It means we can go on outings unhindered by an extra set of wheels for when his legs get tired. And last night, when it was raining, it meant we could run to the car to avoid getting wet! Of course he's still weaker than the average 5 year old. An unexpected bump will send him sprawling, his legs are covered in scrapes and bruises, and he tires easily. I still call out to him to be careful when he runs, and I'm terrified he'll fall when he climbs on the monkey bars. But now, beneath all the fear and worry is a very small glimmer of hope that just maybe we will beat this thing. The landscape is changing. Just a few years ago there were no treatments, but now there is one, and there will be more, and with each of them comes a little more hope that Max's future will be brighter.
Max's Big Ride is raising money for research, and in just one year I feel reassured that our efforts are completely worthwhile. The boxes of Translarna and the changes in Max are proof of that, and while it's not a cure, this drug has bought us some time and that gives us great motivation for continuing down the path we are on.