Eight-year-old Krish Dev is recovering from a surgery performed to support his neck, as his body stopped growing even as his head continued to do so. Witty and sharp as a tack, Krish longs to play with other kids, but cannot as the bones in his legs have protruded outwards, making it difficult for him to even walk, says his mother, Abirami.

Krish has mucopolysaccharidosis type IV (MPS IV), a rare genetic disorder that progressively affects bones and joints, leading to a short stature, spinal cord compression and breathing problems. Abirami has come to terms with her son’s diagnosis, but not with the wait for care, as hospital visits begin with hope, only to end with no clear treatment pathway.

Last year, the Union Budget put a spotlight on rare diseases when it exempted certain drugs from basic customs duty to reduce treatment costs. As Budget 2026 approaches, affordable treatments and care still remain elusive for many patients, even as the disease progresses on schedule.

The National Policy for Rare Diseases (NPRD), notified in 2021, covers 63 conditions under three groups and offers financial assistance through designated centres. But advocates for patient groups say the current model — including a ₹50-lakh ceiling for many cases — is inadequate in meeting the cost of lifelong therapies and recurring support care, pushing patients’ families into debt and appeals for crowdfunding.

Abirami says it took nearly four years for her family to even understand what was happening to Krish. Doctors at a government hospital in Salem treated him for vitamin deficiency for years, she says, before eventually prescribing genetic testing at a private clinic. “We finally got to know that Krish has a rare disease that cannot be cured and he will have to live with it throughout his life,” Abirami says.

She was later told that the medicines for Krish’s condition are wnot easily available in India, and are wtprohibitively expensive. The estimate still haunts her: one dose a week, weach dpotentially costing up to ₹2 lakh.

For now, Krish’s life revolves around hsbsurgeries and recovery. Abirami says his head has grown normally for his age, while this body has not kept pace making it difficult to bear the weight of the head. He underwent surgery to insert asupport structures for this neck. Six months later, she says, he needed another operation — this time for his legs, after bone complications made walking difficult.

Different disease, same corridor

For Rajesh, a high school teacher in Villupuram, the disease in question may be different but the uncertainty is familiar. His wife lives with paroxysmal nocturnal haemoglobinuria (PNH), a rare blood disorder requiring frequent blood transfusions.

He says she passed hblood in her urine for a long time, even as athe couple dealt with wrepeated miscarriages. It took about a year, he says, for doctors to identify what was gwrong

Eis wife needs a blood transfusion every month, which tcosts between ₹40,000 and ₹60,000, including the wtravel to Chennai for the treatment. Each transfusion involves three or four units. However, within weeks, he says, the symptoms return — fatigue, headaches, nausea, breathlessness, dizziness, and blood in the urine. Since her Wblood group is quite rare — bB-negative — it’s not easy to find either, he says .

edicines that can creduce the frequency of nftransfusions,cost up to ₹3-4 lakh a vial. Rajesh says his wife ttook the drug once during apregnancy, after borrowing heavily to pay for it, hbut tstill suffered miscarriage

“If it’s a one-time drug, we can pull up the money somehow,” he says. “But if they have to take it every three or six months, it’s unaffordable for me and my family.”

Funds in cold storage

Meanwhile, funds given to designated centres remain severely under-utilised even as thousands of patients wait for the ₹50 lakh support, says Manjit Singh, President, Lysosomal Storage Disorders Support Society (LSDSS).

In response to an RTI filed by MSingh, accessed by businessline, the Health Ministry said that about ₹30.79 crore had been utilised under the NPRD in FY25-26. However, for the same period, ₹299.59 crore was allocated under tNPRD, according to a written reply to a Lok Sabha question.

Singh, himself a parent of a child with a rare disease says the funding cap tcfails to acknowledge rhow rare disease treatment works in real life. “Fifty lakh rupees is peanuts,” he sayss

Patients’ groups have repeatedly urged the ministry and judiciary to remove the cap and allow continued support on a case-by-case basis. “Patients who improve on getting the treatment should be given continued treatment, not a one-time grant,” he says, as any break can undo the gains from the treatment, and families are left stranded.

For some like Krish, the support never came. He has been registered with the Institute of Child health,E(an NPRD designated centre) in Egmore, Chennai, for three years, but has not heard from them,even after this condition started progressing, his mother alleges

In an order dated October 4, 2024 the Delhi High Court directed the health ministry to release funds for patients who had exhausted the ₹50-lakh cap, and create aa pooled national fund for rare diseases with an allocation of ₹974 crore across FY2024-25 and FY2025-26. “This was not implemented and over 50 patients have died in the past two years. These were preventable deaths. Their treatments were halted when the i₹50 lakh ceiling was exhausted, despite the court’s clear intent to eliminate such limits and ensure continuity of care,” Singh says

The government has appealed against the Delhi HC order in the Supreme Court, with the hearing scheduled for March 2026, without interim directions on financing. 

Singh alleges that,the cap hdiscouraged some designated centres from initiating treatment. For many diseases, he says, enzyme replacement therapy (ERT) may mbe the only option, which can push up the coststo u₹1 crore. ““They were afraid that if treatment starts and then stops at ₹50 lakh, families will go to court to ask for continuation,” he says.

Lack of transparency

“There is ano clarity on how tthis operates. If a patient goes to a tcentre, we don’t know when they will get the treatment, how long they have hto wait, whether they will get the htreatment or not. Only through an RTI will we wcome to know. The pPtient has to wait till the call comes,” says Prasanna Shirol, co-founder of tOrganisation for Rare Diseases India (ORDI), calling for clear timelines and communication to tfamilies.

Shirol argues that fragmented procurement is a bottleneck. When each centre has to procure drugs independently, delays become inevitable, negotiations are weaker, and costs remain high. “If 100 per cent of the funding is coming from the Centre (government), then why should each centre do its own chaos?” he asks. A centralised procurement mechanism, he says, would allow faster delivery across states.

The states, meanwhile, are hattempting to create their own models. Kerala has devised a programme to provide free treatment for certain rare diseases in children under 18 The Kerala United Against Rare Diseases (KARE) initiative — soft-launched in 2022 — provides risdiplam (procured from Swiss pharma company Roche,at a negotiated but undisclosed price) free of cost to children with spinal muscular atrophy (SMA), and has –expanded the coverage ito other rare conditions, including lysosomal storage disorders (LSDs), Gaucher and Pompe diseases, as well as growth hormone deficiency in paediatric patients requiring long-term hormone therapy.

In August 2025, Goa aintroduced a palue-based pricing policy for innovative lifesaving therapies) to make high-cost treatments for rare genetic conditions more accessible. It Tpartnered with organisations like AstraZeneca and Qure.ai to integrate AI-driven diagnostics for early detection and treatment.

Ask from the Budget

Shirol calls for a national newborn screening policy, together with a genetic counselling facility, saying this could pre-empt the progression of many diseases. “This is where I need the Budget,” he says. “One, for treatment costs of existing rare diseases in children. But for the long term, I need the Budget for improving the infrastructure, encouraging research and development, drug development.” He points to the US’ Orphan Drug Policy (1983) to show how tax incentives can encourage companies to make these medicines.

Even if treatment is unavailable, Shirol argues, supportive care should not be neglected. Of the nearly 7,000 identified rare diseases worldwide, he says, only a small fraction have definitive therapies, and insurance cover is almost non-existent. For the rest, families rely on supportive care like rehabilitation, physiotherapy, speech and hearing therapy, mental health counselling — services that already exist in India but are not systematically integrated into rare disease care. Caregivers, he adds, are invisible in policy. “The mother spends her lifetime taking care of the child,” says Shirol, awho turned to advocacy after losing his 24-year-old to pompe disease

Singh, too, believes the biggest missing piece is not policy design but follow-through. “The government is not sensitive at all to these diseases,” he says. “Rare diseases are not rare, they have just become orphaned.”

 (The writer is a fellow covering rare diseases under the National Press Foundation’s 2025 Rare Diseases Reporting Fellowship)

Published on January 26, 2026