When I was 4 years old, I was diagnosed with spinal muscular atrophy (SMA) at Boston Children’s Hospital. My mom will probably tell you that it was the worst day of her life — SMA is a relatively uncommon disease that comes with a lifetime diagnosis, so it caused a level of uncertainty as to what my future would hold.
SMA runs on a spectrum, and I happen to have a less severe case, called type III SMA. I can walk short distances, but otherwise use a wheelchair, and have fairly average strength throughout my body, with the exception of weakness in my legs.
I am lucky enough to be from Boston, where there is an SMA Program at Boston Children’s. I’ve been going to their SMA clinic since I was first diagnosed and have had the opportunity to meet with a team of specialists to work out a long-term health plan. Five years ago, I learned from my neurologist at the clinic, Dr. Basil Darras, that I was qualified to enroll in the beginning phases of a clinical trial for a drug now known as Spinraza. At 14 years old, I was one of the oldest patients to receive the drug, so the doctors were especially interested to see my results, since it might determine whether they could use it in adults with SMA.
A clinical trial brings hope, then results
The clinical trial was different than what most people might expect. There was no daily medicine or pills to take, but rather, I underwent a procedure every few months to have the drug injected into my spinal cord. The idea of having a needle in my back made me nervous, but at the same time, I was hopeful the effects of the drug would be worth the potential discomfort.
It turned out my hopes would come to be reality: after about two years of being on the drug, I began to notice some significant improvements to my health, and more importantly, my disease had somewhat ceased to progress. I felt like I had more energy. I was able to go to the gym more, bike longer and faster, and lift heavier weights. My walking pace and distance improved as well, and I gained reflexes in some areas of my body where I previously had none. I think the day I knew I was getting better was when I walked up the flight of stairs in my house for the first time in two years — something I never imagined I would be able to do again.
Walking, driving and going to college
Since starting the drug five years ago, I can say with certainty that without Spinraza and without the ability to conduct these drug trials at Boston Children’s, I would not be as healthy as I am. I might not be able to walk at all, to drive, or to live and take care of myself independently.
Being a part of this trial was not only empowering because it was successful, but also because its success has allowed me to pursue other opportunities, such as going to college. Even though I might be the only student at the University of Massachusetts at Amherst with SMA, I haven’t let my condition deprive me of taking advantage of the opportunities on campus. I hope to graduate from UMass with a degree in public health policy and want to become a legal representative for the health care and pharmaceutical industry.
Learn more about our Spinal Muscular Atrophy (SMA) Program.