A car crash changed my life. The accident itself hardly mattered — I walked away sore but unhurt. Instead, a post-crash blood test sounded an early warning for a rare disease that would spin my life in directions I could never have anticipated.
I have dysferlinopathy, also known as Miyoshi myopathy and distal muscular dystrophy. My body has trouble making a protein called dysferlin, which is needed to build and repair muscle tissue. Without functional dysferlin, the muscles in my body have been wasting away for the last eight years, when I first started experiencing symptoms.
My journey with this rare disease — it affects about four people in a million — started with a car crash in my hometown of West Hartford, Conn., in 2003. A pickup truck plowed into the passenger side of my friend’s car, where I was sitting. Somehow, I emerged uninjured. But routine tests in the emergency room showed an alarming amount of creatine kinase, a marker of muscle damage, in my bloodstream. Instead of hovering around 200, my level was in the tens of thousands.
The rest of that year, my senior year of high school, was a long, frustrating diagnostic odyssey. It took 10 months to confirm I had dysferlinopathy. I thought it was an odd diagnosis, since I felt perfectly healthy and loved to play basketball.
Since there aren’t any treatments for dysferlinopathy, it was only a matter of time before symptoms appeared. When they did, announcing the appearance of the disease with fatigue and falls, my life dissolved into turmoil. The physical challenges were formidable, but the mental challenges were often worse. I suffered from panic attacks and fell into a deep depression.
What made it so difficult was the feeling of isolation. I no longer felt like I belonged to the world of the able-bodied. Worse, I didn’t know anyone who truly understood my situation.
After growing tired of sulking, I slowly picked myself up. I decided to focus on what this disease could not take away from me. One event that helped me was a conference I attended in 2013 sponsored by the Jain Foundation — an organization whose mission is to find a cure for my disease. There I finally met other people with dysferlinopathy.
It was an uplifting experience, one that I wish happened years earlier. These people got it — they knew what it felt like to go from ability to disability right when the whole world was finally at your fingertips. I didn’t have to explain to them what I was feeling; they understood just through eye contact and a handshake.
Being an advocate for my disease has pushed me toward a career in health care. One goal that dysferlinopathy could not take away from me was to get my MBA. I’m now enrolled in the graduate school of management at Boston College, graduating in May. It is not the easiest campus to navigate with a muscle disease, but I am not letting logistics get in the way of my goals.
Over the years, I have met many other people who are living with rare diseases of their own. No one wants to be in this club. But once you are ready to accept membership, I’ve found that there is a community out there who will embrace you with open arms.
On Monday I’m marking Rare Disease Day by speaking at a ceremony at the Massachusetts State House. This celebration is a great reminder that when all of us with rare and mystifying diseases are put together, we are one big community, and we are not alone on this journey.
Christopher Anselmo is a student in the Carroll School of Management at Boston College. He blogs at sidewalksandstairwells.com.
I am in the same boat as you are. Finally diagnosed 10 years after first symptoms I am grateful that I can still walk ,drive, and work although I had to wave my nursing career goodbye. I do admin work now.