Six years back, I met with Alpana Sharma, the mother of Aarav Sharma, a cheerful boy who was six years old back then. He was playing Lego, building and rebuilding blocks. He loved playing chess with his parents back then, and even now, six years later, he continues to not only enjoy chess but also ace it by winning multiple trophies at a competitive level. At the time in 2018, I saw him in his school uniform, a white tee with a colourful bumblebee print, and red short pants, like any other boy of his age, except that his body was in crutch braces from neck to toe. He used them while standing, walking, and even as he would sit; each time, every time. "It stays with him throughout, and helps him support and balance his body so that he doesn't fall," said his soft-spoken mother, Alpana Sharma, who, at present, is the founder director of CureSMA, a parent-led advocacy group that helps those suffering from spinal muscular atrophy, a rare genetic condition that causes muscle weakness and affects a child's ability to crawl, walk, sit up, and control head movements.
Aarav was diagnosed with Spinal Muscular Atrophy (SMA) early on and Alpana continued to stand by him like a rock. Today, her son is no longer just known for his condition, rather, he is popular for his exceptional performance in science, mathematics and Cyber Olympiads, his dedication to academics as an above-average student and his friendly and cheerful demeanour.
He underwent bilateral growth modulation surgery to correct the knees, at a suburban hospital in Mumbai, as the progressive nature of the disease leads to a lot of deformities in the upper and lower limbs. Interestingly, Aarav postponed the surgery by a day because he did not want to miss out on his science Olympiad that was scheduled for the day before. "He is a highly spirited boy and has never let his condition take precedence. He is as happy-go-lucky as anyone else and maintains a positive outlook towards life," says Alpana.
Aarav suffers from spinal muscular atrophy (SMA) Type 2, a rare genetic and progressively degenerative disease. Six years back, his parents' worst fears were that in due course of time, the disease might affect their son's motor nerve cells of the spine, and thereby his ability to not just walk, but also to eat on his own. They feared it might even hinder his ability to breathe on his own. Then add to the financial burden that the family was put through and continues to face - There are three types of treatment for SMA patients: gene therapy Zolgensma, which costs Rs 17 crore, and two other drugs — Nusinersen (Rs 87 lakh) and Risdiplam (Rs 6.2 lakh per bottle).
But in this gap of six years, as Aarav grew, much has changed. First, after much persistence on the part of parents of SMA-affected children, led by Alpana and others, the government of India has agreed to provide Risdiplam to all SMA patients in the country, which comes as a big relief.
Second, on October 4, the Delhi High Court directed that the Centre establish a National Fund for Rare Diseases and allocate Rs 974 crore for 2024-25 and 2025-26. This was to be approved and transferred in 30 days. Third, imports of medicines and FSMP used in the treatment of rare diseases were also exempted from Integrated GST.
About a month back, Chief Justice of India DY Chandrachud emphasised the need to create awareness about rare diseases in society, by being empathetic and supportive to such parents whose children or other family members suffer from rare diseases, regardless of cultural, religious or traditional barriers. He said we can no longer afford to be unaware of genetic diseases. Citing the National Policy of Rare Diseases launched by the Ministry of Health and Family Welfare in March 2021, he stressed the need to ensure equitable access to advanced medical therapy like gene therapy in a diverse nation like India.
“Nobody is to blame for these diseases, especially since these disorders are essentially the result of mutations in certain specific genes, and the occurrence of these gene mutations is an event beyond human control,” says Dr Mamta Murunjan, clinical geneticist, KEM Hospital and Hinduja Hospital, Mumbai.
"SMA is the result of a mutation of the Survival Motor Neuron Gene 1 (SMN1). A gene mutation is a permanent alteration in the DNA sequence that makes up the gene, such that the sequence differs from what is commonly found in normal people. Each of the parents usually carries one mutated copy of the gene, and is referred to as carriers. When two carriers have a child, there is a chance of the child either having SMA or of being a carrier. Each child has a 25 per cent chance to have the condition, 50 per cent chance to be a carrier like each of the parents, and 25 per cent chance to not have the condition or be a carrier," she explains.
One in 40 people in India are carriers of the faulty gene that causes the disease. It is one of the 7000-plus rare diseases existing in the world, of which a majority are genetic in nature. Prasanna Kumar Shirol, co-founder and executive director of ORDI (Organisation of Rare Diseases in India) says that children are the biggest casualty of rare genetic disorders, which can be divided into seven. The most common are blood disorders, immunodeficiency disorders, bleeding disorders, lysosomal storage disorders, neuromuscular disorders, skeletal dysplasia and small molecule diseases.
"We have come a long way but still, so much remains to be done. Most importantly, to include medicines for SMA in the Essential Medicines List. We are working towards that. Our children who are diagnosed with this rare disease are blessed with other talents and skills. They go on to be really successful in whatever field they choose. And so, the government's focus should be on encouraging research and should help patients and their families with positive interventions," says Alpana, as she speaks to THE WEEK while sitting in the hospital, as his son recuperates.
