When Govt’s ‘honest mistaken belief’: 100 million rare disease

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.

What was to be followed?

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 hemophilia, Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy. And some experts think the number may be much higher.

No treatment required

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 the 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 a rare disease awareness month, with the last day celebrated as a global Rare Disease Day.

Researchers, advocacy groups and health experts are in equal parts hopeful and skeptical. The sooner a national policy is implemented, the more lives can be saved, as patients line up in wait for expensive treatment, points out Prasanna Kumar Shirol, founder of the Organisation for Rare Diseases in India (ORDI).

The solution of some of the underlying problems

On the flip side, the original policy did little to solve the biggest underlying problems: 1. Most clinicians can’t identify rare diseases, 2. India’s healthcare infrastructure is severely lacking in basic treatments, and 3. With the small pool of patients for each disease, there’s a little financial incentive to find cures.

For most pharma companies, it just doesn’t make sense to develop drugs and therapies for rare diseases.

Alok Bhattacharya’s office in the School of Life Sciences at Delhi’s Jawaharlal Nehru University is a bit of a mess. Computer in one corner, a small fridge, a few blue chairs around a table, files and folders scattered across the room.

Molecular Biology and Parasitology

Bhattacharya, known for his work in bioinformatics, molecular biology, and parasitology, apologizes as he sits. He’s getting ready to retire this year, and there’s a fair bit to be done.

The scientist, whose daughter has a genetic neuromuscular disorder with no cure, known as GNE myopathy, says, “I have talked to a few drug companies. They are not interested. A few hundred patients, what is that? An orphan drug policy has not really come up in India in terms of giving people incentives to produce therapies for rare diseases.”

Any given rare disease is likely to have only a small pool of patients. For pharma companies, it’s often not financially viable to invest hefty sums in R&D for drugs that cater to such a narrow slice of the population. And so the term—“orphan drug”.


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