Through policy reforms, court appeals for rare disease funding, and the establishment of a dedicated center in Bengaluru, Prasanna Shirol is ensuring that parents and children affected by rare diseases receive the support they deserve.
A Father’s Fight Against the Odds
“You often hear of parents building their savings so their children can lead more comfortable lives in the long run. But I didn’t have the long run to think about. I just had the present,” recalls Prasanna Shirol, whose daughter, Nidhi, became India’s first reported Pompe patient.
Pompe disease is a rare genetic disorder that leads to glycogen accumulation in the muscles, affecting vital organs. With a prevalence of 1 in 40,000 to 1 in 3,00,000, the disease often limits life expectancy to just two years. Yet, Nidhi defied those odds, surviving for 22 years. However, the road to diagnosis was anything but easy. When she was born, genetic testing was in its infancy in India, leading to a long and arduous diagnostic journey.
The first seven years of Nidhi’s life were marked by countless hospital visits, inconclusive tests, and an overwhelming sense of helplessness. “Right from when Nidhi was four months old, we started noticing problems with digestion, frequent pneumonia, and delayed motor skills. By one and a half years, she still couldn’t stand on her own,” Prasanna shares. It took visits to over 40 hospitals before they finally got a diagnosis.
Despite the devastating news, a silver lining emerged. Prasanna connected with the Netherlands-based International Pompe Association, which led him to Genzyme, a U.S.-based biotechnology company that provided access to a charitable program offering life-saving medication free of cost. But while Nidhi had a lifeline, Prasanna couldn’t stop thinking about families who lacked such opportunities.
Turning Pain Into Purpose: The Birth of ORDI
Rare disease drugs, also known as ‘orphan drugs,’ often cost crores, making them inaccessible for most families. The disparity in access to medical treatment prompted Prasanna to establish the Organization for Rare Diseases India (ORDI) in 2014, an advocacy platform dedicated to supporting rare disease patients and their families.
“No one should have to face the uncertainty that we faced,” he asserts. “If I had started this journey just for my daughter, it probably would have ended with her. But I started it to help other children and parents who have nowhere to turn.”
Prasanna’s advocacy work gained momentum, and soon, he was taking India’s rare disease conversation to a global stage. He attended APARDO (Asia Pacific Alliance of Rare Disease Organisations) meetings in Manila, collaborated with global healthcare giants like Merck to explore clinical trial opportunities for Indian patients, and represented India at the COLLABORATE Initiative in Prague, aimed at addressing challenges in adult-onset rare diseases.
Despite his current stature, Prasanna’s early years with ORDI were riddled with personal sacrifices. “I quit my job, spent over a lakh per month on my daughter’s treatment, and had no idea how I managed to run my home for 12 years,” he reflects. But he persisted, driven by the kindness he received and the desire to pay it forward.
A Lifeline for Rare Disease Patients
ORDI has made significant strides in ensuring access to medical funding. For years, Prasanna faced bureaucratic resistance while advocating for government support. “Officials would tell me, ‘Thousands of children die of diarrhea and malaria every year. Why should we allocate funds for rare diseases?’” he recalls.
His persistence paid off in 2017 when a landmark decision led to the sanctioning of Rs 100 crore for rare disease treatment. This fund now entitles qualifying patients to Rs 50 lakh for treatment at designated ‘centres of excellence’ in public hospitals across India.
One such patient, Rekha K, was featured on a TV show in 2011 discussing her struggle with Mucopolysaccharidosis type IV (MPS IV), a genetic disorder affecting bone growth. Prasanna happened to watch that episode. Moved by her story, he reached out and introduced her to ORDI. “At the time, ORDI was just a small group, but Prasanna uncle has been my biggest support ever since,” says Rekha, who, along with her brother, also battling a rare disease, received career guidance and job placement assistance through ORDI.
The Rare Diseases Care Coordination Centre
ORDI’s impact extends beyond financial assistance. In Bengaluru, Prasanna launched the Rare Diseases Care Coordination Centre (RDCCC) at the Indira Gandhi Institute of Child Health, a pioneering facility designed to ease the treatment process for patients and their families.
“When Nidhi was undergoing enzyme-replacement therapy, she needed an infusion every fortnight. Each session meant 12 hours of painful pricks as nurses struggled to find a vein,” Prasanna explains. At RDCCC, children are treated by a dedicated staff, ensuring continuity of care. The center, with its child-friendly environment and comfortable waiting areas, has already treated 275 patients and is serving as a model for similar centers nationwide.
ORDI has also stationed coordinators at other government-approved treatment centers to assist families in navigating the complexities of rare disease treatment and funding applications.
Shaping Public Perception and Policy
Prasanna is now focused on shifting public perception and making rare diseases a part of mainstream health discussions. One way ORDI achieves this is through Racefor7, an annual marathon held across 20 cities to raise awareness about rare diseases. The event, scheduled for February 23 at 7 AM, invites participants from all walks of life to support the cause.
In addition, ORDI launched India’s first nationwide rare disease helpline (+91 8892 555 000), providing information, medical guidance, and even emotional support for affected families. “Sometimes, we even talk to their employers to help them understand what the families are going through,” Prasanna shares.
A Legacy of Hope
Recognized globally, Prasanna was named an Ashoka Fellow in 2018 and awarded the ‘RARE Champion of Hope’ in 2019. However, for him, the real victory lies in the messages he receives from grateful parents. “When a parent sends me a picture of their child receiving treatment and says, ‘Thank you, because of you my child is alive,’ that’s what makes my day.”
For Prasanna, Nidhi’s story was never just about one child—it was about changing the narrative for every rare disease patient in India. And with each life he touches, his mission continues: to ensure that no one has to endure the journey alone.