Dr PA Abhinand, 33, with spinal muscular atrophy, who has been on a wheelchair since a teenager, completed his PhD, works as a lecturer and is driven by a never-surrender mindset. Here, he talks about how sometimes life can be depressing and cruel to people with SMA, but still he ensures he lives every moment to the fullest.
Could you give us a little background about your condition?
I have spinal muscular atrophy (SMA) - a rare neuromuscular disorder which affects about one in ten thousand people. The disease results in the loss of motor neurons and results in progressive muscle wasting. I have Type 3 of SMA, which means I could walk as a child, but became confined to a wheelchair by the time I was 13 years old.
At what age were you diagnosed with Spinal Muscular Atrophy (SMA) and when did you start using a wheelchair?
As a child, I did not achieve any of the usual motor milestones like crawling, standing and walking. This made my parents worried and they consulted a neurologist. Thirty years ago, human genetics was nowhere as well studied as it is today, so my family did not receive a very clear diagnosis. The diagnostic modalities, back in the early 1990s included EMG and a muscle biopsy. My parents were told that most likely I had Duchenne Muscular Dystrophy or SMA. It was only 10 years later in 2001 that it was confirmed that I had SMA Type-3, typically considered less severe than Type 1 and 2 which manifest earlier in a child's life.
As a child, I could walk and even play gully cricket on the street. I remember being quite good at playing cricket. The disease progressed slowly and I gradually grew weaker and lost my ability to walk by the time I was 13 years old. My mobility has been confined to a wheelchair since then.
How was your school and college life?
My early schooling was easy as I could walk around like my fellow classmates. But the muscle degeneration progressed with time and I lost my ability to play or run along with my friends. This was quite disheartening. The toughest phase of my life was during my teenage years when I faced self-confidence issues and I would feel left out of all the fun activities. But as I grew up, I learnt the joy of living every moment to the fullest.
You are a professor of Bioinformatics at the Sri Ramachandra Institute of Higher Education in Chennai. How did you get interested in Bioinformatics?
I first fell in love with biology when my mother gifted me the book ‘Selfish Gene’ by Richard Dawkins for my 16th birthday. Since then I have always aspired to be a scientist in the field of life sciences. After completing my schooling, I started applying to different colleges across the city. I was repeatedly rejected on medical grounds. But I got accepted by Kumara Rani Meena Muthiah College, where I went on to pursue my undergraduation in Biotechnology.
I had a keen interest to pursue careers in genetics. But by the time I completed my undergraduation my hand muscles had grown very weak and I knew that performing laboratory experiments for long hours would be really difficult for me. Therefore, I chose bioinformatics as a career choice as I would be able to pursue my research interest in Genetics while working on the computers.
Not many people with SMA have a doctorate. What was your driving force in completing your PhD?
Ever since I was a child my mother always instilled in me the belief that I can achieve anything that I set my heart on.
As I was losing my muscle strength gradually over the years and consequently losing my independence, I realized that I need to create an identity for myself. By getting a doctorate I could showcase my credentials to the world as a Scientist and Teacher.
You are also a passionate researcher with several peer-reviewed publications? What are your key areas of research?
I have always had a keen interest in research and I currently have published 14 International Research Articles in peer reviewed journals. My areas of research include Proteomics, Structural Bioinformatics, Systems Biology and Network Biology. Currently, I am carrying out the study on the structural perturbations the Spike protein of the SARS - CoV2 (Corona) across different strains.
You are crowdfunding for a new drug which is expected to stop the progression of Spinal Muscular Atrophy. Could you tell us how this drug will help your condition?
Evrysdi (Risdiplam) is known to stop the progression of my Spinal Muscular Atrophy. Therefore, no further muscle degeneration will happen and it will be possible for me to retain whatever motor abilities I am left with. It can also prevent the future health complications that might arise because of my Spinal Muscular Atrophy such as heart conditions and serious respiratory problems.
Living with SMA is challenging. How do you keep yourself motivated?
Every day of my life is a challenge. I depend on others for every aspect of my daily life including eating, taking a shower or even using the restroom. But these setbacks don't dampen my spirit. I have always to achieve excellence in whatever I pursue.
I am the sole breadwinner of my family. My father passed away six months back, my mother retired two years back and is my additional caretaker. I also have to bear the added expense of a full-time caretaker to carry and put me in my wheelchair and assist me with everything. On my limited income I would never be able to afford this expensive medication.
As I have been using a wheelchair since the age of 13, I have the lost my ability to stand or walk. I have very limited use of my limbs and the severe scoliosis of back causes unbearable pain in my muscles all over the body. Additionally, the SMA has affected my breathing abilities and the pain keeps me up the entire night. Yet, I am up and ready the next morning to meet my students and share my passion for science and learning.
What measures do you take to ensure your life is fulfilling and healthy?
I try to take care of myself to the best of my ability. I am a foodie, but still I try avoiding the foods that affect my health. As my mobility is confined to a wheelchair, I live a sedentary lifestyle. So I take precautions to try to avoid putting on more weight.
Physiotherapy on a regular basis is a part of my life as I need to preserve whatever muscle strength I am left with. Massages and stretching exercises are regular part of my daily routine.
What would you like to tell others going through a similar experience like yourself?
The only advice I would want to give my fellow SMA warriors is to 'Believe in themselves'. If we don't believe in ourselves, the world around us will not. Sometimes life can seem depressing and cruel to people with SMA, but the important thing is to keep our positivity and live each day as it comes with a smile.
