During this season of joy, one of the starkest reminders of the emotional rollercoaster of Duchenne is clinical trials. So, you have two children with a rare genetic disorder. You start discussing the clinical trials that you have been hearing about through the community. You are grateful and hopeful because there were not any trials available when you received the devastating double diagnosis in 2013. But which one do you choose, what are you willing to put your children through, and what if you choose wrong?
You go through the different trials based on eligibility criteria and what tests you are willing to have your boys go through. To be honest, when I read the 20-page consent paperwork, I didn’t really read it. What it said was not going to change my decision. We had no option if we wanted to try and save our sons; especially my older son who was approaching the dreaded clinical trial cutoff age. We went with the trial that both boys would be eligible for and was at the same hospital. We underwent the screening process and the boys were accepted. We were very happy as we felt like a trial was giving them some promise of keeping them ambulatory longer. It gave us hope when we had none.
It is quite a lot to go through as a family: The travel to Ohio every 6 weeks, especially during the month of transition from placebo to open label, the numerous tests that you don’t see the results of, the risks, the time taken off of school and work and the mental and physical exhaustion.
The trial was beneficial in our impression of what we were seeing in our sons. My oldest son was able to walk around the block on Halloween, something he was never able to do without having to take breaks in his medical stroller. I was able to take the boys on a 1-mile hike in the woods that never was possible before. We survived the traveling and the tests and the injection process that we had to learn from the nursing staff so we could perform them weekly on the boys. We even were able to carve out some fun on our trips to and from the hospital to make the best of it. We lived the clinical trial life for 4 years and then it suddenly ends, and it is crushing.
You know this is the risk you take but to end ‘out of the blue’ because of a failure to meet primary endpoints (stair climb time, 6-min walk test) to show improvement is frustrating. I will move past the anger but what I can’t get past is my feeling again of hopelessness because there are no treatments or trials on the horizon for my boys. You go through all this because after the news of a rare diagnosis you find out that the one best hope is a clinical trial; a light at the end of a dark tunnel. You know a clinical trial isn’t the end of the journey, and it may not end happy. Ours just ended and now, ironically in this season of joy, we look again for hope.
