For a person living with a rare disease, what should be the ultimate eligibility criteria for timely access to approved and available treatments? Should it be their ability to pay? Their nationality? A biased estimate of potential improvement? Or, perhaps an assumption about their future contribution to the nation?
At the age of one, I was diagnosed with spinal muscular atrophy (SMA), a rare progressive neurodegenerative disorder. At the time, there was no definitive treatment available—only supportive care and symptom management. In 2017, when I was 18, I developed pneumonia, which led to respiratory failure. Since then, I have relied on a tracheotomy tube to breathe, along with regular nebulisation, BiPAP therapy and supportive medication.
In the weeks following my tracheotomy, my pulmonologist tried to keep me hopeful, saying I would recover soon. But the infections kept recurring. I still remember him telling my parents in disappointment, “The girl is taking so much effort... but the problem is that every time she takes a step forward, she stumbles three steps back.” What else can happen when you live with a disorder that keeps progressing?
The first treatments for SMA—nusinersen and onasemnogene abeparvovec—were approved by the US FDA in 2016 and 2019, respectively. Nusinersen is a lifelong treatment administered at regular intervals and costs about Rs92 lakh per injection. Onasemnogene abeparvovec is a one-time intravenous gene therapy for children under two and costs approximately Rs16 crore.
In 2020, the FDA approved risdiplam, the first oral drug for SMA. It is also a lifelong treatment taken daily. Currently, risdiplam is the only SMA drug marketed in India. One bottle is priced at Rs6.2 lakh. Even at the discounted rate offered to the Indian government, the cost for a patient weighing more than 20kg is at least Rs60 lakh per year. The Central government’s National Policy for Rare Diseases provides a maximum of Rs50 lakh in financial assistance—insufficient for continued treatment.
While none of these medicines can cure SMA, they are highly effective in slowing its progression and preventing life-threatening complications, leading them being regarded as life-saving drugs. Access to these drugs can significantly improve patients’ health and quality of life. Continued access, particularly to treatments like nusinersen and risdiplam, is vital.
Rare disease patients in India have long struggled to access these exorbitantly priced life-saving drugs. Since early 2021, courts have been hearing petitions demanding affordable treatment for all. A landmark judgment came on October 4, 2024, when the Delhi High Court ruled on a batch of petitions (titled Master Arnesh Shaw v Union of India) filed by patients with rare diseases like SMA, Duchenne muscular dystrophy, and Gaucher’s disease. The ruling included detailed directions to the National Rare Diseases Committee, the Union government and pharmaceutical companies.
It was disheartening, however, when the Supreme Court later stayed this judgment.
Proper support for rare disease patients must begin with awareness and include a well-coordinated system for diagnosis, treatment administration, rehabilitation and creating accessible environments. India still lacks a complete registry of rare disease patients. Though 12 centres of excellence have been approved for treatment, many patients—especially children and those with severe health issues—cannot easily travel long distances to register or attend follow-ups. More hospitals need to be added to the network.
Ensuring treatment for all rare disease patients will require active negotiation with pharmaceutical companies and better budget allocation and use. The Rs50 lakh financial assistance cap must be removed to ensure uninterrupted access to lifelong therapies. The government must also invest in developing indigenous drugs and strengthening the generic drug industry.
Patent monopolies play a major role in keeping prices unaffordably high. Life-saving drugs should not be treated as profit-generating commodities. If negotiations fail to bring prices down, the government should not hesitate to invoke the public interest safeguards under the Indian Patents Act.
As Martin Luther King Jr said in 1966, “Of all the forms of inequality, injustice in health is the most shocking and inhumane.” The government must act swiftly and effectively—not by prioritising certain patients or delaying decisions, but by ensuring fair access to treatment for all those living with rare diseases.
The writer is a 26-year-old artist, writer and blogger living with SMA type 2. Bedridden since 2017, she is actively raising awareness about the lived realities of people with disabilities.