Rare Disease and Life Lessons

The whole point of living is to keep trying!

This is my Mantra. I am a 26-year old research student who lives ‘happily’ with the rare diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD). The third most common form of muscular dystrophy, FSHD causes progressive muscle degradation. My diagnosis took almost 11 years. I remained confused and irritated when undiagnosed because I could not decipher what was ‘wrong.’

I hail from India. You can imagine me as a kid who always loved to play outdoor sports and activities, be it cricket, football, badminton, volleyball, basketball, cycling, or yoga. As time passed, my genetic condition revealed itself, creating many issues. Initially, people (including my parents) used to think that I was not playing ‘properly.’ I guess it was not their fault since there was no previous diagnosis of FSHD in my family. Looking back, I now see some features manifested in some pictures of relatives on my maternal side, thanks to my diagnosis.

Another part of my story lies in my education. I love to read biology, and was convinced that I could become a doctor someday. However, life had better plans. I pursued Pharmaceutical Sciences with a Master’s degree in Pharmacology & Toxicology. While figuring out my future in academia, I came across the Indo US Organization for Rare Diseases (IndoUSrare). I reached out to the IndoUSrare Team over LinkedIn, and they were happy to entertain my questions on my research interests. They helped me connect with distinguished researchers in India, which allowed me to understand how I can pursue my interests fruitfully. I attended conferences and realised the “gap” between the East and West in the context of rare disease research. Thus, building cross-border collaborations for rare diseases becomes an integral part of collectively helping people living with rare diseases. I hope to contribute to the mission of IndoUSrare since I am a patient and a researcher. I am currently a doctoral researcher in computational biology at IIT Gandhinagar. For me, the point of getting into research was to try and contribute to the rare disease community in every way possible.

People often ask, do I go through difficult times with FSHD, or is my life a happy-go-lucky one?

Yes, I go through tough times, mixed emotions, sadness, and self-doubt. In a way, all this has only helped build me up again for the better. I always believe, ‘for any good to exist; there is an absolute necessity of hard times’ – you realize what you’re capable of in that time. It answers a lot of questions about life. Since I started using a wheelchair in 2019, life has turned around for me, and good! It has taught me about nurturing relations, laughing in the toughest of times, finding solace in chaos, a sense of purpose, the value of emotions, and the essence of being alive. A close friend of mine once said, ‘your inner rebel has not abandoned you; I often try to stick to it and make use of the things that I can control while ignoring what is gone. As I write this, there is an ongoing loss of muscles, but I am still breathing, so that is a big plus. Lastly, I am glad to know that I am alive and look forward to keeping trying, always and every time. All this has happened because I live with FSHD. Thus, I take it as a big blessing when I say, ‘Whatever I am in my life, I owe everything to my diagnosis.’

I prefer to call it a ‘rare diagnosis’ and not a ‘disease’ because I do not suffer from it.

Author Bio:

Shriyansh is a 25 years old aspiring researcher in life sciences. Currently, he is a PhD student in Computational Biology at IIT Gandhinagar, India. Besides academia, he loves to sketch, write poetry, read books, and play with his pet dog.