Today is the first World Duchenne Awareness day, held on 7 September (7/9) for the 79 exons that make up the dystrophin gene, and I thought I would share a little of what it’s like to have this disease in your life.
My son Hermes is now 3 and a half. Just this week gone, he started being able to hop. This was a big deal for us as a family. We have taken pictures and videos, sent emails and text messages to friends and family to mark it. For Hermes, his clumsy little hop is a huge achievement. Having DMD means he’s not able to do the ordinary little things that other three year olds are able to. If we hadn’t had his diagnosis the way we did when he was just 13 months old, around this time is when I would have started to get suspicious that something wasn’t right. Why can’t he run like other kids, why can’t he bound up and down stairs like the other kids, why is he getting tired so fast.
So what’s it like living with DMD? I can only tell you my perspective as a parent until Hermes is old enough to share his own story.
Duchenne is a complex disease, and at the same time very simple. My child’s muscles don’t work in the same way as other people’s. Instead of springing and stretching with every movement, they rip and tear. His little body looks like he has been at the gym all day when we’re at the beach. His thighs and calves bulge and are rock hard – bodybuilders would kill for his physique. I look at his body, and I feel angry. It’s not right. A 3 year shouldn’t look like that. When nature plays her dirty tricks, she really does not mess around.
Hermes gets tired quickly, so I have a double pushchair to take him and his brother out and about. I shrug off the comments from well-meaning old ladies “A big boy like you sitting in a pushchair? You should be walking!” When he makes new friends, I tell their parents outright about his condition. Sometimes I am too blunt. I would rather the people that find it too difficult to back away now than for Hermes to get fond of their child and for them to then disappear.
Duchenne in your life means watching your child all the time for signs that the deterioration has set in, celebrating his successes and trying to ignore the little voice in the background saying “Sure, he can do that now. But for how long?” It’s weeks and weeks of anxiety and sleepless nights building up to consultant and cardiologist appointments, gritting your teeth, wondering to yourself Will this be it? Will this be the appointment where we start to hear the bad news? Because no matter what you do, there is not a damn thing that is going to stop that bad news from coming one day. One day it will all start. The steroids are not far away, and I will have to watch the beautiful, delicate features of my child’s face melt away into the moon face that is one of the many unavoidable side-effects of this treatment.
I am not able to get through one day without Duchenne’s ugly facing popping into your head at least once. Some days it’s not so bad, some days it’s the first thing I think of when I wake up and the last thing when I go to sleep. It’s hearing about the demise of other children all too soon and too unexpectedly and wondering where the bullet is waiting for you in this game of Russian roulette – will your child be one of the exceptional ones to make it past 30, or will he be snatched away before he even gets to 13?
It’s also though a new perspective on life, how short and beautiful it is. It’s doing things now because you know your tomorrows are limited. It’s thinking “Why not have chocolate for breakfast?” and planning journeys you really can’t afford so that you can teach your child he can go as far as he wants and to accept no limitations.
It’s tireless work shoe-horned into your daily schedule to make changes where you live, for your child and all children with a disability to be accepted, for the government to pay attention, for Big Pharma to listen to your voice shouting “My child deserves to live!” It’s meeting some incredible doctors and scientists who are working tirelessly to bring an end to this condition.
And we are so close. This is the first time in history that the researchers working on DMD believe the breakthrough will be achieved within a decade.
It’s not easy to imagine what it’s like to be the parent to a child that you are likely to outlive, and I’m not asking you to put yourself in that position. I am asking you though to talk about us. We are here, we want to be heard. You might be reading about Duchenne here for the first time, or you might be familiar with it already. Spread the word and help us in our race to a cure.
As I watched the success of the ALS ice bucket challenge, I came up with my own little way of spreading awareness and raising funds for DMD and I invite you to join me if you like. I call it the DMD Chilli Challenge. Take a spoon (any size) of chilli sauce (any brand) and make a video of yourself eating it. Then wait 10 seconds before drinking water. In this way we’re trying to show that time is precious and raise awareness for DMD. If you want to help, have some fun with it and spread the word.
Today, think of my son Hermes and all the other children like him. They cannot run very fast or very far, but they are in a race against time. Join us, carry them on your shoulders, and help us get to the point where the next parent who gets a diagnosis for DMD and asks what the treatment is doesn’t have to hear “There isn’t anything that can be done.”