by Josh Wagner
At 23, I am a college student who drives to class and shares an apartment with a roommate away from my parents. While these characteristics seem typical of a young adult they are extraordinary for someone like myself – someone living with a rare disease called Becker muscular dystrophy and Asperger syndrome. I have overcome many obstacles in order to live self-sufficiently and I want others who are living with a rare disease to know that they can also live an independent life.
When I was an infant, I had persistent colic that had not resolved by 10 months of age. After seeing multiple specialists, I was diagnosed with Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes gradual muscle loss and weakness and eventually robs young adults of the ability to walk. While growing up, elementary school and middle school were especially challenging. I understood that with DMD, I wouldn’t be able to walk as I got older and I was constantly pacing myself. I would get tired easily and couldn’t participate in a lot of activities like the other kids my age. I began to use a motorized scooter at school and at summer camp and recall traveling with it on family vacations.
When I was in 7th grade, my mother learned of a clinical trial at the Children’s Hospital of Philadelphia for a drug called Translarna (or Ataluren at the time) that was being developed to treat a type of DMD. She brought me to the Children’s Hospital to see if I might be eligible for the trial. The doctors, having conducted a muscle biopsy and additional tests, re-diagnosed me with Becker muscular dystrophy (BMD), a variant of DMD that allows the muscles to function better than they do in DMD. Becker is thus milder than DMD. Many DMD children lose the ability to walk between 7 and 12 whereas someone with Becker might be able to get by for many years with only a cane for assistance. While this was welcome news for obvious reasons, it did hold a downside. It prevented me from participating in the early stage trial that only included boys diagnosed with DMD. Luckily, two years later, I was able to participate in the Phase 2 trial of Translarna which included boys with BMD.
This trial was a turning point in my life. Halfway through high school, I stopped using my motorized scooter. I began slowly gaining strength and endurance and by my senior year I had learned to drive. That same year I recall taking a one mile walk with my family. As time progressed, I graduated from high school and attended college in NYC for a couple of years but did struggle there. I then started a program in New Haven, CT called ASAT (Asperger Syndrome Adult Transition) that helps adults with Asperger’s live independently. In the past couple of years, I have grown stronger and more independent. I learned to drive, started exercising regularly, eventually losing 35 pounds, and I completed a 5K race last spring. l still experience fatigue if I walk long distances for a long time but the feeling is nothing like how it was when I was younger.
Currently, I’m studying to become an accountant. I no longer live with my parents and I manage my own medical care, which includes seeing my primary doctor and neurologist, as well as making clinical trial visits to Columbia Hospital twice a year.
My family’s support has been a large part of my independence but I also credit Translarna, the experimental drug that is helping me live independently with a muscular disease. The improvements in my quality of life are astounding and I want all eligible boys with Becker and Duchenne to have access to this medication. Unfortunately, Translarna has an unknown future. While the FDA will be reviewing the data in the coming months, it is essential for them to hear the patient voice in the rare disease community. An FDA advisory committee would be beneficial to give patients like me the chance to talk about our individual experiences and the positive results we have found with the drug. I hope that the 13% of boys and young men eligible for this drug with Duchenne or Becker will have the chance to speak out about the improvements this clinical trial has made on their lives. While I advocate for myself, I also advocate on behalf of other boys and young men with Duchenne and Becker who could benefit from Translarna. I want them to know that it is possible to have a good quality of life with this devastating disease.