New Delhi: Ten-year-old Abdul Rehman, once full of life, wastes away at AIIMS, appearing frailer with every passing week. He suffers from Gaucher disease, a rare yet treatable lysosomal storage disorder. However, life-saving therapy was stopped last Sept after he ran out of govt funds.“His condition has since been deteriorating rapidly. We are helpless as legal and administrative proceedings drag on. I just want my son to survive. Is that too much to ask?” his father, Abul Kalam, says. Across India, dozens of children and young adults suffer from inherited metabolic disorders that progressively damage vital organs. Over 60 children and young adults have died in the past two years after being forced off treatment due to lack of funding, while another 55 are now at risk, patient advocacy groups say.Doctors say the deaths were preventable. The National Policy for Rare Diseases, 2021 pledged up to Rs 50 lakh per patient for therapy. However, once the one-time funding was exhausted, the patients were left without treatment.In Oct 2024, Delhi High Court directed Union health ministry to establish a National Rare Diseases Fund and allocate Rs 974 crore to ensure uninterrupted treatment. This corpus was aimed at providing continuity of life-saving therapies by ensuring timely disbursal of funds beyond the Rs 50-lakh cap.However, Supreme Court granted an interim stay on the high court order on Dec 10, 2024. According to health ministry officials, the matter is currently pending before the apex court. Meanwhile, families watch helplessly as the condition of their children deteriorates. Six-year-old Adrija Mudi from West Bengal, who has Gaucher disease, was improving steadily while receiving enzyme replacement therapy, the only treatment that can slow or halt the disease. “She could walk and play like the other children,” says her father, Jayanta Mudi. “But the funds ran out in 2023. It’s now heartbreaking watching her slide. I appeal to govt to act immediately. Our children deserve a chance to live,” he says.Saying that the situation reflects “a moral and institutional failure,” Manjit Singh, national president of Lysosomal Storage Disorder Support Society, adds, “Each day of administrative delay translates into another life lost. We’re not asking for charity, but the implementation of the HC order recognising our children’s right to live with dignity.” In a glimmer of hope, NITI Aayog and Indian Council of Medical Research (ICMR) are promoting indigenisation of drugs used to treat patients suffering from Group 3 rare diseases because imported medicines are prohibitively expensive, the health ministry officials said.Lysosomal storage disorders, including Gaucher, Pompe and Fabry diseases, are caused by defective enzymes that trigger toxic buildup inside cells, progressively damaging the liver, brain and other vital organs. Regular enzyme replacement therapy can prevent organ failure and extend life expectancy, but only if administered continuously. “Govt funds are available,” claims a member of a patient advocacy group. “But bureaucratic inertia andlegal wrangling have turned a treatable condition into a death sentence.” As court proceedings drag on and the kid’s lives hang in the balance, parents like Kalam and Mudi hope — not for miracles, but for timely action.
