Patients of rare diseases in India have a written an open letter to Prime Minister Narendra Modi and Health Minister JP Nadda to address key gaps in the National Policy for Rare Diseases (NPRD) 2021.
“We, the undersigned Patient Advocacy Groups (PAGs), write to appeal for your urgent intervention to address critical challenges in the implementation of the National Policy for Rare Diseases (NPRD) 2021. Our collective voice represents hundreds of rare disease patients, their caregivers, and families across India, struggling for timely diagnosis, treatment and sustainable care,” the patients stated in the letter.
In the letter the patients highlighted that pare diseases, particularly chronic genetic disorders, impose life-threatening challenges, often affecting children disproportionately. Alarmingly, 30% of children diagnosed with rare diseases do not survive beyond their 5th birthday, if the condition is not diagnosed and the patient put on treatment.
“While NPRD 2021 has been a commendable step forward, gaps in implementation have left many patients without adequate support. These challenges include discontinuation of treatment after the one time funding support up to ₹ 50 lakh is exhausted, restricted access to life-saving therapies like Enzyme Replacement Therapies for notified conditions like Pompe, MPS and Fabry, and delay in the roll-out of the proposed National Programme,” the letter revealed.
According to the letter, the delay in rolling out the proposed ₹ 974 crore national programme on rare diseases has exacerbated these challenges, leaving patients, most of whom are children, in dire circumstances.
“Approximately 38 patients from three Centers of Excellence (CoEs) have been running pillar to post after exhausting their one-time financial support of ₹50 lakh. Many families are facing catastrophic financial burdens, with no alternative funding or support to continue life-saving treatments. This delay has not only caused unnecessary suffering but also undermined the trust of the rare disease community in the government’s commitment to their welfare,” it added.
The patients urged the Ministry to consider the following recommendations:
Sustainable Funding Mechanism:
- Remove the cap of providing one-time support up to ₹ 50 lakh for patients diagnosed with chronic, ultra-rare disorders like Lysosomal Storage Disorders (LSDs).
- Establish a transparent, sustainable funding framework to ensure uninterrupted treatment for all eligible patients, particularly for those conditions which have demonstrated clear clinical outcomes and have been administered on patients in India for a long time.
Timely Access to Treatment:
- Resolve delays in procurement and disbursement of funds at the Centres of Excellence (CoEs).
- Streamline administrative processes to ensure patients do not face interruptions in critical treatments like ERT, which have proven clinical benefits for diseases such as Gaucher, Pompe, Fabry, MPS I & II.
Policy Expansion and Disease Inclusion:
- Include Acid Sphingomyelinase Deficiency (ASMD) as a notified condition under NPRD 2021 to ensure that eligible patients have access to life-saving therapy.
Enhanced Monitoring and Implementation:
- Set up a stringent monitoring mechanism to address administrative bottlenecks and ensure accountability at all levels of NPRD implementation.
“The government’s commitment to improving healthcare for all Indians have inspired hope among the rare disease community. We humbly seek your attention in ensuring equitable access to life-saving treatments for all eligible patients,” it stated.
The letter was written by Prasanna Shirol, Co-founder and Board Director, Organisation for Rare Diseases India (ORDI); Manjit Singh, President, Lysosomal Storage Disorders Support Society (LSDSS); Saurabh Singh, Co-founder and Director, Rare Diseases India Foundation (RDIF) and Navintara Kamath, Co-founder, Niemann-Pick Disease Charitable Trust.
The letter was also undersigned by Jayant Mudi, father of Adrija Mudy (Gaucher patient); Imtiaz Ghoshi, father of Imran Ghoshi (MPS I patient); Jagmal Ram, father of Ashok Kumar (Gaucher patient); Maksood Khan, father of Alishba Khan (Gaucher patient) and Biswajit Mondal, father of Arijit Mondal (Gaucher patient).
Despite the policy’s intent to support rare disease patients, delays and funding restrictions are leaving hundreds—especially children—without access to life-saving treatment, the patients maintain.
The Delhi High Court, in its order dated October 4, 2024, directed the Ministry of Health and Family Welfare to immediately release funds for the treatment of rare disease patients who had exhausted the ₹50 lakh cap. Additionally, the court mandated the establishment of the National Fund for Rare Diseases (NFRD) with an allocation of ₹974 crore for FY 2024-25 and 2025-26. However, despite these judicial directives, there has been no action taken by the ministry, leaving families in complete despair.
As of August 2024, 63 rare diseases are included under National Policy for Rare Diseases on recommendation of Central Technical Committee for Rare Diseases (CTCRD).