Rare disease patients appeal to PM for ‘gift of life’ as funds run low

Nearly 2,000 rare disease patients across India are currently awaiting treatment, including around 450 eligible patients suffering from life-threatening Lysosomal Storage Disorders who require timely therapy. “Approximately 100 children who had begun treatment have already exhausted the Rs 50-lakh funding cap and now face a complete halt in life-saving care, pushing them back to ground zero. Eight patients have already died while waiting for treatment support,” Singh told The Indian Express.

Set up in 2010, the LSDSS is the first patient organisation in India to bring Lysosomal Storage Disorders (LSDs) and rare diseases into national policy discussions. LSDs are ultra-rare genetic metabolic disorders marked by an abnormal build-up of toxic substances in the body’s cells due to enzyme deficiencies. These include Gaucher disease, Pompe disease, Fabry disease and others. A total of 63 rare diseases — including lysosomal storage disorders such as Fabry, Pompe and MPS 2 — are being severely impacted.

In his letter, Singh has also urged the Ministry of Health to immediately allocate the remaining Rs 271 crore (out of Rs 299 crore) to all Centres of Excellence and direct them to initiate treatment for eligible patients, while ensuring continuity of care for children whose funds have been exhausted. “Any further delay will result in irreversible deterioration and loss of young lives,” Singh said.

Earlier, Dr Anil Bonde, chairperson of the Indian Medical Parliamentarians’ Forum, had written to the Prime Minister citing data from the National Rare Disease Crowdfunding Portal and patient networks of around 600 registered Group 3(a) patients in India.

Under the NPRD launched by the Ministry of Health and Family Welfare in March 2021, rare diseases were categorised into three groups: Group 1, disorders amenable to one-time curative treatment; Group 2, diseases requiring long-term or lifelong treatment with relatively lower costs; and Group 3, diseases where definitive treatment is available but involves challenges such as optimal patient selection, very high costs and lifelong therapy.

Twelve Centres of Excellence were identified for the diagnosis, prevention and treatment of rare diseases. Dr Bonde has also called for timely decisions to ensure that no vulnerable patients are left behind in their journey towards better health.