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Nidhi Shirol was less than a year old when her parents began to worry that she was struggling with developmental milestones like crawling and standing. But it took seven years of gruelling visits to doctors across India before she was finally diagnosed with Pompe disease, a rare genetic disorder that impairs muscle function.
By then, Ms Shirol’s condition was so poor that she needed support to breathe and was confined to a wheelchair. “They felt something was wrong, but they could not figure out what it was,” says her father, Prasanna.
Since her 2007 diagnosis, Ms Shirol has received free enzyme replacement therapy from Sanofi Genzyme, the speciality care unit of the French drugmaker, through its charitable access programme. The treatment, which would otherwise cost more than $200,000 a year, has prevented her condition from deteriorating, though it cannot restore her lost physical function.
Mr Shirol, who co-founded the patient support and advocacy group Organisation for Rare Diseases in India, believes that children afflicted with rare diseases in India today have better odds of a timely diagnosis than his daughter did, as awareness of these little-known conditions grows.
“In terms of diagnosis, the situation has drastically changed, like from zero to 100. More doctors know about rare diseases, testing prices have fallen, diagnosis is faster,” he says. “But treatment is a big zero.”
Rare diseases pose challenges for healthcare systems all over the world, given the limited availability of drugs and the high cost of testing and then paying for them.
But the problems are magnified in a country like India, where a fragile and underfunded system struggles to provide quality care for treatable diseases, or natural processes like childbirth.
In the last few years, rare diseases have been a focus of India’s public health agenda, says Soumya Swaminathan, director-general of the Indian Council for Medical Research.
“There has been a lot of interest in the plight of people — particularly children — afflicted with rare diseases,” she says. “There is an interest now in trying to do something.” While the incidence of each rare disease is low in the general population, says Dr Swaminathan, “in India, the numbers do add up”.
Estimates based on census data suggest that more than 72m people in India are suffering from rare diseases.
In their search for help, Indian parents have turned to the courts to force government hospitals to provide life-saving treatment, despite the costs.
Some have proven sympathetic. In a 2014 judgment, Delhi High Court ordered the All India Institute of Medical Sciences, a government hospital, to provide enzyme-replacement therapy that cost nearly $9,000 a month to a seven-year-old rickshaw-puller’s son who suffered from Gaucher’s disease. The rare genetic condition is in the same family of afflictions — together known as lysosomal storage disorders — as Pompe disease.
In its ruling, the court declared that no government could refuse to treat patients with chronic and rare diseases due to financial constraints.
“Just because someone is poor, the state cannot allow him to die,” the judgment said. “Health is not a luxury and should not be the sole possession of the privileged few.”
Since then, the ORDI and other patient activist groups have successfully won court orders to secure treatment for patients in New Delhi as well as in the southern states of Karnataka and Kerala. Most patients in these legal cases were the children of blue-collar government workers, whose health costs are supposed to be borne by a government health insurance scheme.
Meanwhile, the government is developing a more systematic policy response to rare diseases. Indian geneticists have created a national task force to improve diagnostics and counselling for families afflicted by lysosomal storage disorders, and to gather data.
The ICMR also plans to establish patient registries to establish which rare diseases occur most frequently in India and to provide important data for research. Eventually, specialists hope that the government will develop policies to encourage investment into researching new treatments.
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