It's not very often that someone can have the opportunity to research and study their medical condition, but when it does you can be sure that they will stop at nothing, to find a cure.

When I was around 5 or 6 years old, I was diagnosed with an unidentified muscle disorder by a doctor at the Children's Hospital in Washington, DC. At the time they didn't even know what it was, let alone what was causing it, or what could fix it. As I grew up, I began to pay less and less attention to my condition. My mom always says, "Prithu's condition is only 10% of his life, nothing more." Finally, when I was around 12 years old, I was finally able to have my condition genetically diagnosed as an SEPN1 congenital myopathy, which is associated with an autosomal recessive rigid spine muscular dystrophy. I'm guessing that you barely understood what that meant. That's precisely how my 12-year-old-self felt when my family and I were given this diagnosis by a genetic counselor. To my parents, an explicit name, and cause were provided for my condition, but I couldn't care less. A name didn't really mean anything because, for me, nothing really changed.

I began to have bi-annual check-ups with two doctors, one at Johns Hopkins, and one at Kennedy Krieger. I used to despise these visits, mostly because they were so long. Since they were in Baltimore, each meeting took about a full day to go and come back from, with really only ten minutes of actual time with the doctors. I remember thinking that the doctors didn't care about me, but I guess that was good because it meant that my case was not severe enough for them.

As time went on, I continued to and still do live a relatively normal life. That doesn't mean that I didn't have any challenges, it's just that I didn't let my condition dictate how I lived my life. For example, I joined my school swim and water polo teams. I would jump in that pool every day, knowing that I would not be the fastest at swimming, or the best at water polo, far from it, but I knew that I would be challenging myself, and pushing myself to the limits to continue and better myself.

Most recently through my explorations in muscle research, I have also had a chance to research, and learn more about my condition. The lab that I have been interning for the last two summers is on the same floor as a lab that is actively studying my condition. I was able to sit down with one of their members and learn what they know so far about the mechanism behind and the possible therapeutic strategies for my condition. I learnt that a mutation in the SEPN1 gene results in an incomplete protein, that is responsible for calcium homeostasis in the muscle membrane. Calcium levels is the chemical signal that tells your muscles to expand or contract, since I am unable to properly control these levels, it manifests in my physical condition.

This past summer I have been reading many papers on the possible mechanisms and therapeutic strategies that I currently being tested. I am also excited that the work that I am doing in the Kunkel lab this summer is on congenital myopathies, which my condition is a specific type of.

At first, I was a little disappointed because the current research is in very early stages with a lot still unknown, but then I realized that I too could play a role in this research, and maybe one day find a cure to this condition.