“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,” Prasanna Shirol takes me back to the day his daughter, Nidhi, made headlines, becoming India’s first reported Pompe patient.

The rare genetic disorder causes glycogen accumulation in the muscles, not sparing the vital organs either. With a prevalence of 1 in 40,000 to 1 in 3,00,000, Pompe pronounces its victims with a life sentence of two years, something Nidhi managed to outdo by 22 years. India had never diagnosed a Pompe patient before Nidhi; the fact that genetic testing was still in its infancy compounded the delay in diagnosis.

The first seven years of Nidhi’s life were a blur. Prasanna and his wife, Sharada, have only memories of hospital doors and batteries of tests from that period. “Right from when Nidhi was four months old, we started observing that she had problems with digestion. She suffered from frequent pneumonia. Even after one and a half years, she could not get up on her own. She had flat feet.” Prasanna says that as time progressed, the symptoms worsened.

Forty hospitals later, they had a diagnosis.

But, there is a silver lining, Prasanna, who is primed to look for one in every situation, shares. Following the diagnosis, the Netherlands’ International Pompe Association agreed to sponsor Nidhi’s treatment through their international charitable access programme. Though relieved, the ‘dad’ in Prasanna couldn’t help but wonder about the fate of families who weren’t as lucky.

Rare disease drugs (also called ‘orphan drugs’ due to their unprofitability for pharma companies to produce) cost crores. The disparity in access to medical treatment compelled Prasanna to start the Organization for Rare Diseases India (ORDI) in 2014, a platform for advocacy. “No one should have to face the uncertainty that we faced,” he says.

I think it is commendable that Nidhi’s passing hasn’t dimmed Prasanna’s mission and vision in the slightest. In a world where everyone is for themselves, we have stumbled upon a paradox. He explains, “If I had started this journey with the goal of ensuring my daughter received funding for her treatment, it probably would have ceased. But I started it to help other children with rare diseases and worried parents with no one to turn to for the answers.”

Creating and continuing hope: The Organization for Rare Diseases India

Considering the nature of Prasanna’s schedule, I’m lucky to secure an interview with him. His time is a juggle between the operations of ORDI and taking India’s rare disease advocacy to a global stage.

Last year saw Prasanna attend an APARDO (Asia Pacific........

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