Many patients with rare diseases, including children under 12, remain untreated despite being registered and eligible for care at government hospitals that have already received the earmarked treatment funds, a patients’ advocacy group has said.
The Organisation for Rare Diseases India (ORDI), an umbrella group representing patients, has said that “bottlenecks in execution” and “limited funds” have left some children without treatment and forced others to stop treatment midway when their money ran out.
The Union health ministry had in 2022 introduced, under its National Rare Disease Policy, a one-time financial support of up to ₹50 lakh per patient with rare diseases, administered through 13 designated hospitals called Centres of Excellence (CoEs).
The cap reflects the challenge of what the ministry has described as limited resources and competing health priorities that “make it difficult for the government to fully finance high-cost rare diseases”.
The patients have conditions such as Fabry disease, Gaucher disease or mucopolysaccharidosis — inherited disorders caused by malfunctioning enzymes and seen in one in 20,000 to one in 500,000 births.
Some are treatable with enzyme replacement therapy (ERT), which can cost between ₹10 lakh and ₹50 lakh a year, depending on the patient’s weight. Without treatment, the diseases can lead to life-threatening complications.
The actual number of such patients across India remains unclear, but the policy was the Centre’s first structured effort to fund treatment through registration-based eligibility, seeking to use limited resources as cost-effectively as possible.
The Institute of Postgraduate Medical Education and Research in Calcutta is among the 13 CoEs. Delhi has two such hospitals, with the others in Bengaluru, Bhopal, Chandigarh, Chennai, Hyderabad, Imphal, Jodhpur, Lucknow, Mumbai and Thiruvananthapuram.
The CoEs have registered over 500 patients eligible for enzyme replacement therapy but less than 20 per cent currently receive the therapy, the ORDI said in a report submitted earlier this month to the Supreme Court and the Prime Minister’s Office.
At least 15 registered patients waiting to begin ERT have died over the past three years, the report said, attributing the deaths to “administrative delays, lack of fast-tracked approvals, or inaction by the CoEs”.
“We’ve appealed to the Supreme Court and the PMO, seeking their urgent intervention to close such gaps and to ensure that rare-disease patients receive continuity in care through sustainable funding,” the ORDI’s founder, Prasanna Shirol, told The Telegraph.
In October 2024, Delhi High Court, responding to petitions from parents, directed the Centre to establish a Fund for Rare Diseases, allocating ₹974 crore for 2024-25 and 2025-26. The Centre has challenged the order in the Supreme Court and secured a stay, pending hearings.
Fifty children or young adults — including 24 in Bengaluru, 10 in Calcutta, and 7 in Delhi — who had their treatment discontinued after exhausting the ₹50-lakh support now face declining health, the ORDI said.
Data compiled by the ORDI last week from a health ministry portal on rare diseases suggests that only 107 of the 571 patients eligible for ERT under the policy are currently on treatment.
The CoEs’ doctors dispute these numbers, saying they are based on dated data and that technical constraints prevent the CoEs from updating the portal. But they acknowledge that some registered patients remain untreated.
“We moved the files for six patients to our purchase department more than four months ago, but we’re still waiting for the medicines,” a physician at a CoE told this newspaper. The CoE doctors requested anonymity in this report.
One CoE doctor said the absence of standardised treatment guidelines might be leading to inconsistent decisions about who receives care.
“It’s heartbreaking, but patients with severe neurological involvement are unlikely to benefit from ERT,” the doctor said. “With limited resources, we must prioritise those for whom treatment can make a real difference.”
A query from this newspaper to the health ministry seeking its response to the ORDI’s report has remained unanswered.
While parents continue to press for sustained financial support, CoE doctors say they’re caught between policy constraints and the families’ expectations.
“It’s very difficult to tell parents that treatment will stop once the ₹50 lakh is used up,” a physician said. “It’s a painful conversation. But what can we do?”