Rare disease patient management must include long-term support for patients and peace of mind for families, ensuring that care continues seamlessly even when parents are no longer there to provide it.
Prasanna and Sharada Shirol with a photo of their daughter Nidhi, who passed away. Photo: DH Photo/S K Dinesh
I was born in Hubli in the Indian state Karnataka to hardworking, middle-class parents. I grew up with the idea that effort led to reward, and I excelled in both academic and professional pursuits. After completing my MBA, I built a successful career in sales and marketing in the telecommunications industry.
In 1999, my first child Nidhi was born. From her first week of life, Nidhi faced severe health challenges, including delayed developmental milestones and recurrent respiratory issues. Over the next seven years, my wife and I visited more than 45 hospitals, seeking answers. Finally, Nidhi was diagnosed with Pompe disease—the first case identified in India.
She attended school regularly until she was seven years old. But the disease was progressing, and when she was seven she had acute pneumonia; she spent 45 days in the ICU.
From September 2007, Nidhi required ventilator support. She attended school and later college with the aid of three machines, bravely completing her high school education and the first year of her bachelor’s degree in commerce. Every year brought new medical challenges, from scoliosis surgery costing 15 lakhs (US$17,160) to immunotherapy at 12 lakhs (US$13,725), alongside supportive care expenses of 50,000 INR (US$572) per month for 11 years. These financial burdens were met through borrowed funds from friends, family, and crowdfunding.
In 2017, due to a malfunction in her ventilator and delayed hospital access, Nidhi suffered a cardiac arrest and hypoxic injury. After six years in a semi-coma, she passed away in 2023. The ongoing expenses of managing her care at home, including an initial nine-month hospitalisation costing 20 lakhs (US$22,870), and over one lakh (USD$1,148) per month for nursing and medication expenses, placed immense strain on the family.
Lacking support from the public healthcare system and formal treatment options within India, I made the difficult decision to leave my job, selling my few assets to manage the unsustainable costs of Nidhi’s care. My own personal battle illuminated for me the widespread struggle of many families across the country dealing with similar rare disease challenges.
I was determined to make a difference. I founded the Lysosomal Storage Disorder Support Society India—the first national parent support group for children with ultra-rare diseases. I also established the Pompe Foundation, uniting and empowering families affected by Pompe disease. As this network expanded, I realised the need for a collective national voice for all rare disease patients. In 2014, I founded the Organization for Rare Diseases India (ORDI), which brought together experts in genetics, molecular diagnostics, communications, and patient advocacy to champion this cause in India.
This advocacy led to several pioneering initiatives: India’s first rare disease helpline, the Rare Disease Care Coordination Centre (RDCCC), the first exclusive daycare centre for rare diseases, and the annual ‘Race for 7’ mass awareness run on Rare Diseases Day, which has been ongoing for nine years. For 10 years I advocated for the National Rare Disease Policy, making Karnataka the first state in India to treat rare disease patients following a court order, and in 2017 the National Policy for Treatment of Rare Diseases was launched. Although this policy was withdrawn and revised, in 2021, hundreds of patients began receiving treatment across 12 centres in India (albeit with financial assistance capped at 50 lakhs (USD$57,180) per patient—an unsustainable amount given the exorbitant cost of treating rare diseases).
I continue to advocate for government bodies and policymakers to develop long-term, sustainable treatment solutions, especially where effective treatments exist that enable patients to lead quality lives as contributing citizens. I also advocate for India’s research and development ecosystem and I push to have Indian patients included in global clinical trials, working with the Indian Society for Clinical Research in their events and programming. This has led to the Indian government supporting a World Health Assembly Resolution in April 2025, a significant step towards global recognition of rare disease challenges.
Despite these achievements, there remain gaps in rare disease patient management and I know the toll this takes on caregivers, particularly ageing parents. I dream of a ‘Who After Me’ solution—a collaborative care system providing long-term support for patients and peace of mind for families, ensuring that care continues seamlessly even when parents are no longer there to provide it.
My experience as both a dedicated father and an advocate speaks to the importance of both personal resilience and communal solidarity in transforming healthcare landscapes. I hope my work continues to inspire others to advocate for rare disease patients and bring about hope and change within the rare disease community in India and beyond.
The opinions expressed are those of the author and do not necessarily reflect the position of Re:solve Global Health.
Prasanna Shirol is a dedicated father and advocate for rare disease patients in India whose daughter was the first person in India to be diagnosed with Pompe disease. As co-founder and executive director of the Organization for Rare Diseases India (ORDI), he has raised awareness and support for rare disease patients. He has won multiple awards and serves on key committees, and his advocacy has achieved government-sponsored treatment, a milestone in India.
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