Rare disease patients and advocacy groups appeal to PM Modi for sustainable funding for treatment

A view of the Indira Gandhi Institute of Child Health in Benagluru where facilities are offered for treatment for rare diseases.
| Photo Credit: The Hindu

Several families of children suffering from rare diseases and patient advocacy groups (PAGs) have appealed to Prime Minister Narendra Modi and Union Health Minister J.P. Nadda to remove the cap of providing one-time treatment support of up to ₹50 lakh for patients.

Under the National Policy for Rare Diseases (NPRD), 2021, patients diagnosed with chronic, ultra-rare disorders such as Lysosomal Storage Disorders (LSDs) are given funding up to  ₹50 lakh for treatment.

Also read: India’s fight against rare diseases

Rare 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 treated. 

20 from Karnataka

Approximately 38 patients from three Centres of Excellence (CoEs) including 20 from Karnataka have been running from pillar to post after exhausting their one-time financial support of ₹50 lakh. 

Prasanna Shirol, co-founder of the Organisation for Rare Diseases India (ORDI), said many families are facing catastrophic financial burdens, with no alternative funding or support to continue life-saving treatment.

The mother of a nine-year-old patient from Karnataka suffering from Gaucher disease, a  rare genetic disorder that causes a buildup of fatty substances in the body, said her child’s treatment had stopped abruptly last month after the ₹50 lakh fund was exhausted. “Due to this, my child’s growth has drastically slowed down as she has no control over her day-to-day activities. Sometimes she overeats, sometimes she does not eat at all,” she said.

The father of a four-year-old Gaucher disease patient from Karnataka also had a similar concern. His daughter’s treatment has also been abruptly stopped after the fund was exhausted.

Gaps in implementation

Highlighting the gaps in implementation of the NPRD, 2021, that have left many patients without adequate support, the patient families and PAGs have written separate open letters to the Prime Minister and Union Health Minister.

“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 rollout of the proposed ₹ 974 crore National Programme for treatment of rare diseases,” the letter stated.

The Delhi High Court, in its October 4, 2024 order, had directed the Union 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 2024-2025 and 2025-2026. However, there has been no action taken by the Ministry, leaving families in complete despair, Mr Shirol pointed out.

The PAGs and patient families have recommended that the government establish a transparent and sustainable funding framework. This is to ensure uninterrupted treatment for all eligible patients, particularly for those conditions, which have demonstrated clear clinical outcomes and have been administered to patients in India for a long time.

Their other recommendations include resolution of delays in procurement and disbursement of funds at the CoEs, inclusion of Acid Sphingomyelinase Deficiency (ASMD) as a notified condition under NPRD 2021 to ensure that eligible patients have access to life-saving therapy.