May 19th marks my 25th birthday. As someone impacted by a rare disease, I want to share my perspective to help people understand life beyond the disease.
I was diagnosed with Duchenne muscular dystrophy (DMD) at three years old. Growing up, my family and I attended any number of medical appointments. I don’t remember many of the specifics since my parents always made the trips to Philadelphia, New York, Washington DC and a number of other cities fun for my brother and me. We eventually met Dr. Brenda Wong who would go on to be my DMD doctor for over 15 years now.
Beyond the doctor appointments, growing up for me was like any other kid, with a few nuances. I have a small family but an incredibly tight knit family – my dad, mom, brother grandpa and grandma. I went to school and had my mother as an aid. I got really into video games and computers; I built my own computer around 8 or 9 years old and feel really passionate about the power of computing and the internet to connect people from across the world. When I could still walk, my family would play catch in the driveway and I’d help out at my family’s convenience store in the summer. Without knowing about the disease, life was pretty normal.
As I grew up and began to understand what it meant to have DMD, my fears about this disease began to grow as it began to manifest. There weren’t many, or any, trials available to me through the years. Oftentimes it felt as though I was a couple years too old for clinical trials which was always frustrating. But this blog isn’t about clinical trials or medical appointments. This is about what it’s like to not only live with DMD but to prosper in the face of DMD.
With the support of my family, I attended school through college, getting accepted into Cornell University and its Information Science program. College was challenging, as it is for everyone. I lived at home and commuted to school – we were fortunate to live close to a good school. My dad and mom took turns bringing me to school. What once seemed like an impossibility of ever attending college quickly became a reality. DMD didn’t stop me from following my dreams, it just made my family and I make adjustments and adapt to the situation.
But adjustments aren’t always easy. One of the hardest adjustments was when my brother, Rich, moved to Boston – over 6 hours away from our home – to attend grad school in the summer of 2016. For my entire life I had my brother nearby. For a while it felt as though I lost a big part of my universe. The same summer that Rich moved to Boston our grandmother passed away and my world felt even smaller. But, what felt like the end of the world to me at the time turned out to be the beginning of a new hope that I never had before.
Grad school for my brother turned out to be the starting point for starting a collaboration to make a customized drug for me. It seemed like a fantasy at the beginning since there are many false hopes when dealing with a rare disease. Slowly, the dream started to turn into reality – first in having a muscle biopsy, then hearing that Monkol and his team had corrected my cells in a dish. Suddenly, there was more than hope. Suddenly, a team of scientists were working together to develop this drug for me. Now, less than two years later, hope has grown even further as I hear Rich talk about FDA meetings and dosing. The path continues to be challenging, with a pretty bad fall in late 2019. But I hold on.
I’m cautiously optimistic about the future. For once, I’m allowing myself to think about what life could be like decades from now instead of just next week or next month. I feel really fortunate that this is happening. It still feels like a dream that I’m expecting to wake up from any moment. We aren’t across the finish line yet, but I can see it, and it keeps getting closer. I’m holding on tight now, not only for myself but for my family. On my 25th birthday, I have hope for a brighter future. Not only for myself, not only for my family, but for all who are impacted by a rare disease. Here’s to 25!