Yuva Gambhir: Making a Difference in the Fight Against Duchenne
My name is Yuva Gambhir, and I am a 19-year-old from Philadelphia, Pennsylvania. These days I'm really looking forward to starting at the University of Pennsylvania in the fall, where I will be studying computer science. Outside of being interested in everything tech, I love to play chess, meditate, watch comedy movies, and hang out with my friends and family.
When I was 3 years old, my parents noticed that I was not as active as my friends were and that I was scared when it came time to do certain physical activities. After a visit to a neurologist, I was diagnosed with Duchenne Muscular Dystrophy (DMD). My parents were obviously very devastated by the news, especially because, at the time, there was almost nothing on the horizon in terms of a cure. However, despite the initial shock, they worked hard to ensure that I had as close to a normal life as possible while limiting my physical activities to preserve muscle function. By the age of 12, I lost my ability to walk and started using a mobility scooter to get around. Life grew more challenging from a physical standpoint, but I kept myself busy traveling to chess tournaments, playing video games with my friends, and going on fun trips throughout the summer.
When I started to reach high school, my muscle function began to decline further. I lost my ability to stand and properly coordinate my upper body. I transitioned to a power wheelchair full-time. Fortunately, however, I was able to enroll in a medical trial that intended to significantly reduce the progression of Duchenne. Since then, I have noticed a gradual decline in my abilities, but I still maintain a lot of the strength I had since beginning the trial. Now, after being on the trial for 5 years, the drug (Amondys) has been approved by the Food and Drug Administration!
Although dealing with all of my physical challenges was very difficult throughout high school, what began to emerge as a greater problem was the mental toll from my disability. I felt alienated and inferior to others, as they were able to participate in sports and other activities in non-accessible venues. My mental disturbances permeated through relationships, and I began losing friends and being excluded from parties and social activities. In a difficult place, I searched for answers and began to start practicing meditation techniques daily. I also found that I enjoyed connecting with others via helping out and doing service activities. Fortunately, I was able to shed many demons this way and began to rekindle friendships.
As my social and altruistic nature began to manifest, I realized that I could work to help people suffering from the same disability through advocacy. Since middle school, my family held a gala dinner event to raise funds for CureDuchenne, a non-profit driven to help cure Duchenne via venture philanthropy. Every year, I speak in front of hundreds of guests about life with Duchenne and my positive philosophies toward life despite adversity. Recently, I have also aided the fundraising efforts by launching my own online campaigns and spreading the word via emails and social media.
After my sophomore year of high school, I did an internship at a gene therapy laboratory working on a potential treatment for Duchenne. I was able to help with bench work, such as splicing animal model muscle tissue and examining muscle cells under a microscope. I spent the majority of my time reviewing scientific papers going for publication and gave suggestions about how certain jargon could be translated into everyday vernacular that a larger audience could understand. After their work was published in Nature Magazine, I served as an ambassador by explaining the significance of their findings to newspapers, on radio segments, and even on live TV. Apart from sharing the results, I explained Duchenne thoroughly to raise as much awareness as possible.
When I was nominated to serve as a consumer reviewer for the Duchenne Muscular Dystrophy Research Program (DMDRP), I was elated—primarily because I would be able to continue on my pursuit to help the DMD community and because I was fascinated to learn more about all of the cool science in the pipeline. While I was initially intimidated by writing critiques that would be read by PhDs, I began to eventually have fun writing in a scholarly tone and sharing my views as a potential future user of certain treatments.
While participating on the review panel, it was awesome to see so many brilliant minds collaborating with the common goal of helping hundreds of thousands of boys and their families with DMD. I thoroughly enjoyed communicating with all the scientists and other reviewers! Everyone was receptive to my thoughts and opinions, giving me the chance to provide insights that could actually be useful. I look forward to serving again next year!
Throughout my experience as an advocate for DMD, the biggest takeaway has been learning that there are so many dedicated individuals funding and creating cutting-edge treatments for this disease! Sometimes, however, I wish we could all operate on a bit more of a united front when getting promising work funded and approved for trial. There are some unnecessary political battles involved, and sometimes I have observed hang-ups over minute scientific details that distract somewhat from the overall promise of the treatment. While I certainly encourage a thorough examination of all details, it is important to keep the overall goal in mind. But, overall, the community is doing a phenomenal job of making progress in a disease where there was once very little hope.
Advocates, reviewers, scientists, doctors, family members, and investors—let's keep working hard to benefit the lives of hundreds of thousands with Duchenne! We can all make a difference in this fight.
Last updated Monday, January 3, 2022