In India up to 96 million people who may be living with more than 7,000 illnesses defined as rare diseases are not so lucky. India has no budget for rare diseases and health insurance companies do not cover them. Charitable programmes provide for only a very few.
Half of rare diseases appear in children, of whom a third will die before they turn five. Only 5% of such diseases have a cure. But with medicines for management, patients can have a better and longer life.
“A majority of medication for rare diseases is exorbitantly priced and none is manufactured in India,” says Prasanna Shirol, co-founder of Organisation of Rare Diseases India (ORDI), a non-profit umbrella group.
Newborn screening could diagnose many disorders at birth, since 80% of rare diseases are genetic. But barring a few Indian states, it is unavailable in government-run hospitals, where, in 2018, almost 55% of women gave birth.
Next-generation sequencing – a blood test that can diagnose a human’s entire genetic makeup – is now offered in some private laboratories, shortening the journey to diagnosis. But given the prohibitive costs, it may not be enough.