Back in 2007, when Prasanna Shirol got his seven year-old daughter discharged against medical advice in Davangere, Karnataka, and shifted her to a Bangalore hospital, he didn’t realize that the subsequent sequence of events would even play a part in shaping India’s approach to rare-disease management.

Desperate search for a diagnosis

Shirol and his wife, Sharada, welcomed Nidhi into their lives in 1999. But the baby soon started getting frequent bouts of pneumonia and digestive issues, and was reluctant to crawl.

In the absence of a proper diagnosis, the parents visited as many as 40 hospitals until 2007. Nidhi was finally diagnosed with Pompe disease at Sir Ganga Ram Hospital in Delhi.

“She was one of the first Pompe patients in our country,” Shirol says. “We were initially shell-shocked but also a bit relieved that we had a name for our daughter’s condition.”

Pompe is a rare inherited condition classified under lysosomal storage disease (LSD) variants caused by the absence of alpha glucosidase enzyme secretion — which results in impaired glycogen breakdown, leading to muscle weakness and immobility.

Sixteen years on ventilator support

After Nidhi was brought to Bangalore, the Shirol’s were told she would have to use a wheelchair and require lifelong ventilator support. The parents were also asked to set up home-based ICU care.

“Accepting that she would be on life support was initially tough for us as parents,” Shirol says.

Nidhi stayed at home all the time at first, but slowly the Shirol’s started taking her out. When she resumed school, the parents used to accompany her as ensuring battery backup for her ventilator became crucial away from home. Shirol also modified his car with a ramp and started taking Nidhi for drives, mostly in the city. During long drives, they often had to stop at shops and other roadside establishments to recharge the ventilator batteries.

Practical application of corporate skills

Drawing from his experience as a former marketing honcho at top corporate entities, Shirol prepared multiple contingency plans to tide over any eventuality, like a sudden power outage at night.

So, despite having UPS and battery backup for the ventilator, he took up an apartment — in Bangalore’s Whitefield area — that had a designated parking next to Nidhi’s bedroom so he could connect and use the car battery with an AC/DC current converter as an emergency power source when required.

He also stockpiled backup accessories including additional battery packs, battery-water cans and extra cables. “I was often asked if I was selling those things,” he says. “But I did not want to leave anything to chance. Also, it was more economical to buy them in bulk and it saved time.”

To cushion the ordeal of fortnightly hospital visits for Nidhi, he clubbed them with elaborate family dinners at restaurants. “It was just pure incentivizing strategy at play,” he adds. “I wanted her to look forward to our family dinner dates and not focus on the pricks and jabs.”

A cruel twist of fate

Unfortunately, a cruel twist of fate was in store for the Shirol’s soon after Nidhi started her BCom at a city college. In 2017, during a college event, Nidhi’s ventilator ran out of battery — leading to a stroke and cardiac arrest that left her in a semi-comatose state.

“We did not give up hope until she left us in November 2023,” Shirol says. “We like to believe that we did everything possible for her and she knows it.”

Power of parent support and advocacy groups

“Prasanna! Don’t worry. We are sending the medicine.”

Shirol still remembers the phone call in 2007 from the late Maryze Schoneveld van der Linde of the International Pompe Association (IPA), Netherlands, in response to an earlier email. The IPA had liaised with the US manufacturers of an enzyme replenishment drug and supplied it to Nidhi through its international outreach initiative.

“[That’s how] I realized the power of parent support and advocacy groups in spreading awareness and medical aid for rare diseases” Shirol says.

With guidance from a group of doctors that included the genetic expert Dr IC Verma, Shirol started an LSD support society. It eventually played a role in the formation of India’s national LSD task force.

After he realized there were 7,000 rare diseases, Shirol also co-founded the Organisation for Rare Diseases in India (ORDI), the first umbrella organization for rare diseases, in 2014.

“We also launched an annual rare disease marathon, Race for 7 — on the last day of February — to spread awareness,” he adds.

His subsequent health and legal advocacy played a major role in rare disease management in the country, including a 2016 verdict from the Karnataka High Court that the government should help treat rare diseases.

The central government also asked the Delhi High Court to draft a national rare disease policy. Initially announced in 2017, the policy was delayed and the government put it abeyance for redrafting. “[The government] finally announced the policy in 2021 with Rs 50 lakh treatment allocation for affected individuals,” Shirol says.

The ORDI operates a support line for rare diseases and has also set up a child friendly rare disease treatment facility at Bangalore’s Indira Gandhi Institute of Child Health and a neuromuscular centre at the city’s Baptist Hospital to manage rare conditions like Duchenne muscular dystrophy.

Fathers as role models

Shirol fulfilled his responsibilities towards Nidhi, but he himself was inspired by his father, BS Shirol, a former college principal in Bidar, Karnataka, who fought a long, successful legal battle for the restoration of his employment and retirement benefits.

“Even when he was out of a job, he never compromised on his children’s requirements, which inspired me to do the same for Nidhi,” Shirol says. “In our family circles, he is referred to as ‘Munnabhai LLB’ and I am called ‘Munnabhai MBBS’ for my health advocacy.”

Shirol was also inspired by the life of the US health advocate and entrepreneur John Francis Crowley. After his children were diagnosed with Pompe disease, Crowley raised money and started a biotech firm to search for a cure. His life inspired a book and a 2010 Hollywood film starring Brendan Frazer (‘Extra Ordinary Measures’).

“Meeting Crowley in London and interacting with him was very inspiring,” Shirol adds.