I remember the day, the moment, the color of the chair I was sitting in, the papers on the doctor’s desk, and the painting hanging behind him on the beige walls. It was Diagnosis Day. The day that cruelly divided our lives into “before” and “after”. It was the day the doctor told us that Joseph had a devastating degenerative disease for which there was no treatment. It was the day we learned that Duchenne would steal his ability to walk, to feed himself, and to hug his brother and sister. It was the moment that I sat slumped in my chair, gasping for breath, pleading, “No, not Joseph. Please not Joseph. Not my son.”
There have been so many days since Diagnosis Day when I’ve said, “Not my son.” I’ve said it in sadness when I know he can’t play baseball on the same team as his buddies. I’ve said it with determination when I’m told he’ll have to miss an activity at school and I know there just has to be a way we can make it work for him. And I’ve said it in belief and hope when I’m reminded that Duchenne could take him from me. Not my son.
I thought there was no moment that could rival the agony of hearing his diagnosis; the day that I first pleaded, “not my son.” That was the day that motherhood changed for me. The little girl who once dreamed of picket fences and Norman Rockwell holidays had long ago shed the weight of expectations and appearances. That little girl, who was now a mom, had found freedom and fulfillment in the unexpected and the messiness of life. But it was the part of me that could never have imagined loving a child with this much ferocity, couldn’t imagine the depth of grief that is attached to a fatal diagnosis, that wrestled with Duchenne. It was that part of me, who sat last week, on a cold Wednesday in April, in the parking lot of the hardware store, consoling myself with an entire bag of Hershey Kisses after an encounter with a well-meaning acquaintance. I had gone to the store to pick up a paint brush, but other things were in store for me.
This casual friend spotted me in aisle 6 and joyfully bounded up to me, saying, “Congratulations! That is incredible that there is a treatment for Joseph now!”
I froze, fought back tears, and took a deep breath. “That drug!” she continued. “The one that we signed the petition for. This is so exciting!”
The breath that carried my words burned my lips and seared my soul. “This one won’t help Joseph,” I whispered. “It’s amazing, and it will set precedent for all the other treatments in the pipeline. It will help 13% of kids with Duchenne, but not Joseph.” Not my son.
She looked at me, crestfallen. “I’m sorry,” she said softly.
I smiled and squeezed her hand. “Don’t be,” I told her. “We have to start somewhere. This is a really good thing. Now we have to keep fighting, keep up the work.”
Eteplirsen. Exon 51. Not my son. It’s the ultimate of battles – we battle against Duchenne. And then we have to battle our own fears and anxiety. We battle our parental instincts that tell us to protect our own. Save our own. My son. I want something for my son. And I want people to understand that we are not done with this fight. So I keep it simple. Simple so it’s understandable, and simple so I can keep telling the story without wearing myself out.
It’s this simple – celebrating the possibility of FDA approval for eteplirsen fuels our fight. Honoring the work of those who’ve fought valiantly against opposition is what gives other people permission to join in and do their part. Continuing to tell the story – the really tough, heartbreaking story that we still have much to do amidst this great news and unprecedented hope – is what will keep the momentum going. It’s as simple as this – we have great news in the FDA’s direction to Sarepta for the development of eteplirsen, but we have to push on. And this week, as Mother’s Day looms large and is so achingly bittersweet for many of us, as I hold on tight to the idea that eteplirsen is breaking down barriers, I am recommitting myself to telling the Duchenne story. It is paving the way for treatments for all those suffering from Duchenne, so someday when I look back on Diagnosis Day, and I remember hearing “lose the ability to walk”, “wheelchair bound by 12”, “ventilator” and “fatal”, I can, for one last victorious time, say, “Not my son.”