“I have broken bones while sleeping.”

P* is 34. She lives in Borivali, a suburb of Mumbai, the city where she was born and raised. She works at an office in one of the city’s commercial hubs and spends hours on the infamous local trains every day. Much like most people in the city.

But P’s life is starkly different from the 18 million-odd people she encounters on these trains. She has extremely brittle bones—a result of a disorder called osteogenesis imperfecta, or OI. “My first fracture was when I turned three, and my mom was calling my sister and me to have some syrup at night. We decided to race each other and I slipped,” she says. That first fracture was followed by many more in the years since, along with eight surgeries to deal with everything from curved bones to hearing loss.

OI is one of the thousands of disorders that are classified as “rare diseases”. Most of which are genetic disorders and affect a small fraction of the population. (According to the Indian Osteogenesis Imperfecta Foundation, about 1 in 10,000 people are estimated to have OI.)

But collectively, these rare diseases are estimated to affect 5-8% of Indians—between 70 million and 100 million people in all, who suffer from the likes of haemophilia, Duchenne muscular dystrophy, Pompe disease and spinal muscular atrophy. And some experts think the number may be much higher.

The majority of these diseases either have no cure, like OI, or require treatment that runs into hundreds of thousands of dollars—or more—over the course of a person’s life.

India’s health ministry in 2017 put in place a national rare disease policy, which would use “a multipronged and multisectoral approach to build India’s capacity to tackle rare diseases comprehensively”. But three months ago, in December 2018, the government dropped the policy, telling the Supreme Court that it was unimplementable. And that a Rs 100-crore ($14 million) fund to cover state-sponsored treatment of rare diseases had never been allocated, due to an “honest mistaken belief”.

Earlier this month, in response to a public interest litigation case filed by patient groups in the Delhi High Court, the health ministry announced it would have a new policy out in nine months. February is also rare disease awareness month, with the last day celebrated as a global Rare Disease Day.

Ill defined

The definition of 'rare disease' varies from country to country. In the US, it's anything that affects fewer than 200,000 people. In Europe, it's 1 in 2,000 or fewer. India? There's no definition at all

Researchers, advocacy groups and health experts are in equal parts hopeful and sceptical.

AUTHOR

Pranav Srivilasan

Pranav has been in the editing and news business for several years, working on everything from financial markets to policy to features.

View Full Profile

Sign up to our India edition to read this story instantly

To sign up, you’ll create an account that will give you access to a new free story published once a week and archive of 214+ previously published free stories from our India edition. You’ll also receive one email every morning from us introducing the day’s story.

If you’ve already signed up, just enter your email below or login using Facebook or Google.