THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
During my school days I was an active sports person playing cricket and volleyball and represented my district in Tamilnadu, India. I also maintained the right balance between my studies and sports, which helped me to get in to a government medical school by merit. With my father a physician and my brother a dentist, I was expecting to go through a smooth, conventional path in the medical field. I continued to play sports in college and also was dancing in all college functions. It was in my third year of medical school that I noticed I could not spike the volleyball and also could not perform certain moves with ease while dancing. At the same time I also noticed that I could not run fast or climb steps as fast as before. I started exercising my leg muscles for 2 weeks but was surprised and shocked to notice that they got weaker. Being a physician, I understood that this was not a normal phenomenon, and the fact that my brother reported similar symptoms at around the same time increased my curiosity.
Both of us underwent clinical testing to learn what was happening. With CPK levels turning out to be extremely high, muscle biopsy and immunohistochemical analysis confirming limb-girdle muscular dystrophy suggestive of dysferlinopathy type, the diagnosis became obvious but still had to be confirmed by gene testing. It was at this time that I learned about the Jain Foundation through the internet. I registered on their website in 2006 while I was doing my medical internship in India, and at that time my physical condition, though starting to deteriorate, was manageable. I had to make a major decision in my life about my medical career. From an aspiring pediatrician, I changed my goal towards stem cell research, which I thought, and still believe, holds the key to curing this disease. I applied to do an M.S. in molecular biology in the U.S but did not have sufficient lab experience. However, I was accepted into a Masters in Public Health (MPH) program in the U.S. in August 2008 and completed the program in 2010. It was during this period that I re-registered with the Jain Foundation and this time they informed me that they could help me with my gene testing free of cost. I had been hesitating to do a gene test as it would cost me $2000 and as a student, I was not in a position to afford it. As instructed by the foundation, I sent my blood sample to a lab in France through DHL and everything else was taken care by them. Within two months, I got my results with accurate details of the site and type of mutations I have in my genome.
Adding to this great help, they also connected me with their geneticist who answered all my questions about the type of mutation and its inheritance, with great patience. I have been constantly looking out for gene therapy trials and other trials for LGMD and it goes unsaid that a confirmed gene testing report is required to become eligible for all these studies. Without the help of Jain Foundation, I would not have had my gene testing done for the next five years at least. Since then, I have been in constant communication with the foundation and they often update me with the recent happenings/trials in LGMD.
Currently, I am doing my PhD in Molecular Biology & Biochemistry and, as I wished, have started my stem cell research in a lab at the University of Louisville, KY. I hope to combine my medical knowledge with my research experience and formulate a solution to this crippling disease.
Thanks again Jain Foundation for all your help and your service for people with LGMD.