Duchenne Awareness Day: On Being All-Too Aware

Today is World Duchenne Awareness Day—the 7th day of the 9th month of the year, signifying the 79 exons on the DMD gene, though Charlie only has 62 of them. For some reason, despite the enormous progress we acknowledge with gratitude, this day is hitting me hard this year. I look at Charlie and all he’s capable of in this moment, and two things are true: We celebrate that fact and we stare down the necessary work ahead; we ruminate about what’s next. His gene therapy has bought us the gift of time, but there is so much left to do in order to sustain him, and more questions than answers. The work feels impossibly daunting at times. 

And then there’s the day-to-day challenges of living with this monster and all it brings—the behaviors, the anxieties, the calls from school. The inability to take typical parenting choices for granted: where to sign your child up for sports, whether your child will make friends. We search for help and come up empty; this specialist says go here, the other one says go there. None of it is straightforward; it’s impossible to feel truly understood. 

The hypervigilance is exhausting. The constant awareness of your child’s mortality is debilitating. 

And yet: “Hope is the thing with feathers.” Ultimately, I always come back to optimism. I could say it’s an intentional choice, but really it’s the easy way out. I have to believe that more help and solutions are coming to keep carrying on. Duchenne takes so much, but I won’t let it steal our family’s joy. To quote another favorite female writer, “We tell ourselves stories in order to live.” The story I tell myself every single day is that I’m doing all I can for Charlie, and others—scientists, nonprofit leaders, physicians and some of the fiercest fellow parents I’ve ever known—are doing their part, too. 

So on this Duchenne Awareness day, I am well aware of the weight of our load and of the sheer power of hope, faith, love & gratitude.