Those of you that follow me on social media may have noticed this use of this hashtag as I’ve shared posts taking about what today is in the Duchenne world. It is the day the first ever drug to treat Duchenne Muscular Dystrophy may be approved by the FDA.
Hundreds of Duchenne patients, parents, doctors, researchers, and advocated have traveled to the advisory committee meeting with the FDA today to share their knowledge, experiences, and support of approving the first ever Duchenne drug. Some of those people have committed their entire lives to getting the duchenne community to this point.
I couldn’t be there today and I would be lying if I did not admit that part of the reason I am not there is that I’m heartbroken. There are currently 3 drug companies working to get FDA approval for treatment of Duchenne. One of the companies has already had their meeting with the FDA and it was turned down. A second company, the one that makes the drug Translarna/Ataluren that all three of my boys are on, received a refuse to file letter. Our community can not be turned away again. Everyone is very hopeful that today is the day we will make Duchenne history.
My mind has been with my friends and Duchenne family all day, they have rarely left my thoughts and I’ve followed their updates all day.
Corticosteriod regime. Shower chair. Van lift. Handicap accessible. Manuel wheelchair. Mobility scooter. Power chairs. ACE Inhibitor. Cough Assist. Wheelchair-bound. Fatty Embolism Syndrome. BiPAP Settings. Hospital bed. Compression fracture. Heart failure. Ventilator. Death.
Five years ago, before the boys were diagnosed, I could have read those words and assumed it was a list of things describing life in a nursing home. A nursing home filled with many people who had lived full lives. People who had been married and had children, grandchildren, and even great-grandchildren. People who had careers and maybe some career changes. People who can tell you stories about the good old days when they were young and strong and competed is some rugged sporting activity. Or people who could tell you about their hobbies, their love for gardening and getting their hands dirty. And people whose childhood was full of running, jumping, climbing, playing.
Today, I read this list of words and it describes a my life, my boys’ lives, my family’s life. It describes life with Duchenne Muscular Dystrophy. And it is a nightmare. Children diagnosed with this disease have their childhood stolen for them. These words are the things that are happening to them at the beginning of their lives, as young children, and teenagers. As parents of children with Duchenne, we do our best to give them to opportunity to do what other children do like running, jumping, playing. But it is a race against time, because they are progressively getting weaker and we know one day will be the last day they get to do them and that day will come far sooner that it is supposed to.
Around the time my boys get fitted for their first communion suit, they are also getting fitted for their first wheelchair. And once comes wheelchairs, next comes van lifts and a ramp on the house.This summer we will purchase mobility scooters to use because sometimes the work of using a manual wheelchair, even with power assist wheels is too tiring for their arms. My oldest son stayed home from his elementary school track meet today because he can’t compete in a track meet, even one designed for 4th and 5th grade students. It is difficult to try to think too far into the future, because without approved treatments for Duchenne, the future is full of loss, the loss of my beautiful boys and many many others.
But wait. That is the point of this post. That is the point of today. That is why it is absolutely necessary that today Duchenne history is made! Because there is this drug that has been developed, it treats a specific mutation, so not everyone, but the science used for this drug can be adapted to treat many more mutations and can help many more children. The boys that have been taking it in a clinical trial are walking as teenagers. Their heart function and lung function is good. The drug is safe. This drug is drastically slowing down the progression of a fatal disease and when you slow down progression, you prolong their lives. Parents and their children want access to this drug, they understand Duchenne and the science behind this drug. They drug has to be approved. It will save lives and it will promote the development and approval of other drugs to save even more lives. God willing, a drug that will save my boys too.