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Why I'm Fighting for Access to Treatment as a 22-Year-Old With Duchenne

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I was first diagnosed with Duchenne muscular dystrophy (DMD) at 4 years old. At this age, I had no idea what having Duchenne actually meant. Yes, I knew I needed to do things a bit differently than other kids my age. I wasn’t as fast as everyone else, and I even had my own way of getting up off of the floor. Most kids my age could easily push themselves up to a standing position. I had to climb up my legs to stabilize myself. I later learned this movement is called the Gower’s maneuver, and I used it to get off of the floor until I was a freshman in high school. In high school, due to weight gain and fatigue, I began to use other objects to hoist myself up off of the floor, a tactic I lost in college. As a child, I also walked with a kind of waddle and odd stance (shoulders more backward and my spine pushed in) due to weak hips.

I started physical therapy at 5 years old and was given foot splints and night splints to keep my feet loose enough to allow me to walk. I didn’t fully understand what was going on with my body, but eventually my parents sat me down and explained DMD is a rare genetic disorder causing gradual muscle loss and weakness, eventually robbing people of the ability to walk — often by as early as 10 years of age. The disease primarily affects boys and can lead to life-threatening lung and heart complications. The typical life expectancy of someone with DMD is mid-20s. Even with this explanation, I didn’t fully grasp the concept of DMD until I was around 10 or so.

At this point, I began to understand what it meant to have DMD and what would eventually happen to my body.

While I came to terms with having this rare condition, my parents worked tirelessly to research my disease. They worked with Parent Project Muscular Dystrophy (PPMD), an organization started by two mothers of DMD patients, to learn more about my disease and see if there were any available treatment options for me. Through PPMD, my parents found out about a promising research program with a therapy called Translarna that was being developed for a form of DMD caused by a specific mutation called a nonsense mutation. I was tested and the results showed that I had this specific mutation. I was accepted to participate in a clinical trial and was soon on my way to Utah to start treatment.

Jonathan graduating from college with his degree in hand
Jonathan graduating from college.

I have now been on this treatment through the clinical trial for over 10 years and even though I know it’s not a cure, I do believe it has helped delay progression of my DMD. One example of this is that I was able to walk until I was 21 years old, which is quite a feat for someone with DMD.

My childhood was not all foot splints and clinical trials — I still liked to stay active like most boys my age. I hiked, fished and went to boy scout camp. But even with these activities I often had to do things a little differently. For example, the boy scout campground was very spread out – there was no way I could walk from one end to the other. My dad would use his truck to pick me up to go to different locations at the camp when activities were too far away. I tried to remain as active and independent as I could. At this point in my disease progression, I was still able to hike up and down a small hill to a lake to go swimming with the others and I could walk around camp with my friends.

I had a happy childhood, but things were not always easy growing up. For about a year, the investigational trial where I was getting treatment was halted. I stopped receiving the drug that had been stabilizing me for years. Soon after I stopped treatment, I noticed I was losing mobility and function. I was concerned that any time spent off of the drug meant further decline in my condition. Eventually, the research was resumed and I began treatment again. Once I was back on the drug, my disease stabilized. Fortunately, I was still able to walk and move. I was grateful that I could do things like get around my high school and get in and out of my dad’s truck with no help.

During my time in high school and in college, I started to notice more of a decline in my condition. I had trouble getting off of the floor and started to need more support to get back on my feet. At one point, I lost control of my legs and fell, fracturing my spine. I needed to use a motorized wheelchair when I went camping with my dad. During my senior year of college, we hired an aide to help me navigate around campus and assist with note-taking. I didn’t consider this a negative factor. I was grateful to have more resources at my disposal to be able to concentrate on my academic work. I graduated this spring with a degree in biology and with a minor in chemistry and toxicology and I hope to return to school to become a paleontologist.

I became unable to walk about a year ago and now must continually use a mobilized wheelchair to get around. I have aides who can assist me with everyday tasks such as getting dressed, using the bathroom and even reaching items in the kitchen. While I know what this disease will do to me, I feel fortunate to be in my 20’s with no lung or respiratory problems, to be able to walk for as long as I did, and to enjoy so much of my life thus far.

For a lot of families, a diagnosis of DMD can be frightening and difficult to manage. But I remain encouraged, as people diagnosed with DMD today have access to resources and treatment options that weren’t available even 10 years ago. Growing up, there was no clear guidance on what to do and how best to manage DMD. Now, there are more resources, organizations and people that I can rely on to support me. There has been great progress in the DMD community.

Though I have been on Translarna for 10 years and have seen a benefit, it is still not approved by the FDA. I am concerned if the FDA does not approve Translarna, I may lose access to it and other boys like me will not have the opportunity to have access to it either. The therapy is currently approved in Europe, but the FDA in the U.S. has refused to review the drug application. I am proud to fight so the therapy that has helped me for so long can someday be available to everyone who needs it.

I know I am different, but I don’t see DMD as defining me. I am so much more than my disease.

Originally published: July 22, 2016
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