NEW DELHI: A leading patient group and families of children with ultra-rare diseases across India have appealed to Prime Minister Narendra Modi to direct the Union Health Ministry to urgently implement the Delhi High Court order, which recommended establishing a National Fund for Rare Diseases (NFRD) so that dozens of children and young adults, who are on the brink of losing their lives, are not denied treatment.
The ‘cry for justice’ appeal, which was also addressed to Chief Justice of India, BR Gavai, urged him to list and expeditiously hear the pending Special Leave Petition (SLP) in the Supreme Court and to restore the October 4, 2024, order of the Delhi High Court in full.
In a landmark decision, the Delhi High Court directed the centre to establish the NFRD with an allocation of Rs 974 crore and to ensure uninterrupted therapy for patients with rare diseases. However, the Union Health and Family Welfare Ministry filed an SLP before the Supreme Court, which is still pending.
According to Manjit Singh, National President, Lysosomal Storage Disorders Support Society (LSDSS), who wrote the appeal to the prime minister and the CJI, on behalf of patient groups and families of children with ultra-rare diseases across India, the SLP is pending before the SC, thus halting relief for patients.
“The matter has remained pending for nearly a year while lives continue to be lost. Each week of delay is another irreversible loss. We are not asking for sympathy - we are asking for the implementation of the High Court’s order that upholds our children’s right to live with dignity,” he added. The case is listed in the apex court for November 7.
“The lack of timely central funding has forced the treatment discontinuation for over 55 patients located in Kerala, Tamil Nadu, West Bengal, Delhi, and Karnataka. This crisis is worsening, with a growing number of patients expected to lose access to care as the delay continues,” said the national patient groups.
In the past two years alone, nearly 60 patients have died after exhausting the Rs. 50 lakh funding cap, said Singh.
He added that over 55 patients also remain untreated for months despite being registered at Centres of Excellence (CoEs) and eligible for approved life-saving therapies.
"Without urgent intervention, this number will exceed 100 by year-end," he added.
Urging for urgent financial assistance for patients who are at high risk of losing their lives due to a delay in decision-making, he said that this will ensure all patients whose funding is exhausted are put back on the life-saving Emergency Response Team (ERT).
He also urged the immediate restoration of treatment for those who have exhausted their one-time support.
They also advocated for a structural change in the National Policy for Rare Diseases (NPRD), 2021, and to establish a permanent and sustainable funding mechanism for chronic diseases such as Group 3 (a) diseases, moving beyond the inadequate one-time cap.
Under the policy, the centre provides financial and technical support for the treatment of 63 identified rare diseases in India. The key features include financial assistance of up to Rs 50 lakhs per patient for treatment at the 12 designated Centres of Excellence (CoEs), including AIIMS, Delhi.
The appeal said: “We, the undersigned representatives of national patient groups for Lysosomal Storage Disorders (LSDs) and other ultra-rare diseases, write with deep anguish - and with faith in your compassion and leadership - on behalf of dozens of children and young adults who are on the brink of losing their lives. These are not children without cures; they are being denied treatment due to administrative delays and the restrictive one-time funding limit under the National Policy for Rare Diseases (NPRD) 2021.”
Highlighting the anguish of the parents, whose children are suffering from rare diseases, he said, parents across India are watching their children fade after years of stability on treatment.
According to Raja Murugappan, Rare Diseases Support Society, Tamil Nadu, “The Rs. The 50 lakh limit was never meant to be a death sentence. We appeal to the Supreme Court and the Prime Minister to uphold the hope these families still hold.”
Jayanta Mudi, father of six-year-old Gaucher patient Adrija from Kolkata, said, “My daughter’s health had improved remarkably when she was on therapy. Since treatment stopped, she has been deteriorating each day. Our children deserve a chance to live.”
Abul Kalam, father of 10-year-old Abdul Rehman from Delhi, added, “My son’s therapy stopped in September 2024. His condition is worsening, and we are helpless as the proceedings drag on. We only seek a chance for our children to live.”
The appeal added that “the right to health and life under Article 21 is not an abstraction - it is the only hope for these children. Justice delayed in this matter will mean justice denied, irreversibly.”
The 63 rare diseases grouped into three categories include a range of genetic and metabolic disorders, including Phenylketonuria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Prader-Willi Syndrome, and various Lysosomal Storage Disorders, a rare genetic metabolic disease.
