Patients suffering from rare disease await funds for treatment after exhausting Rs 50L given by govt

New Delhi: Patients suffering from life-threatening rare genetic Lysosomal Storage Disorders, who were receiving treatment at the AIIMS here, are fighting for survival after exhausting the government's one-time funding of Rs 50 lakh under the National Policy for Rare Diseases (NPRD) 2021.

Despite the Delhi High Court's intervention on October 4, directing the Ministry of Health and Family Welfare (MoHFW) to release immediate funds, no action has been taken, the family members of the patients said.

The Lysosomal Storage Disorders Support Society of India (LSDSS), a support group advocating for rare-disease patients, has appealed to the MoHFW to support sustainable treatment for Gaucher disease patients.

Ashok Kumar (3), Abdul Rehman (10) and Alishba Khan (6) are suffering from a life-threatening rare disease known as Gaucher that requires continuous treatment -- ”Enzyme Replacement Therapy (ERT).

The discontinuation of their treatment by the All India Institute of Medical Sciences (AIIMS) due to lack of funds has led to severe health complications, putting their lives at risk.

The situation is particularly dire for Khan. "My child's health was improving but her treatment was stopped in August, due to which her spleen is getting enlarged again. She is in constant pain and I feel powerless," her father said.

He added that when his daughter's treatment was stopped, she suffered from loss of hearing and appealed for immediate release of funds from the ministry to save her life.

Kumar, a resident of Rajasthan, also suffers from Gaucher disease. His father said his treatment was discontinued by the AIIMS in August. "The government funding gave us hope, but now we do not know what needs to be done. The delay is putting my child's life at risk," Kumar's father said.

Similarly, the father of Rehman, who hails from Uttar Pradesh, said, "My son's condition worsens daily due to the discontinuation of his treatment since September. He has been getting episodes of fever and cough as his health conditions have become unpredictable. I urge the government to immediately release funds for my son." LSDSS president Manjit Singh said the transformative nature of therapy for Gaucher patients has been clearly demonstrated, with ERT achieving a perfect 10/10 in the National Rare Disease Committee's (NRDC) benchmarking report.

"However, despite the proven efficacy, only 25 per cent of eligible Gaucher patients are currently receiving treatment. This stark gap highlights the urgent need for prioritising sustainable funding mechanisms and streamlined treatment protocols to ensure that no patient is left waiting for life-saving care," Singh said.

The NPRD 2021 offers a one-time financial support of Rs 50 lakh to eligible patients.

However, the lack of provisions for sustainable funding beyond this cap has left many families in limbo.

The Delhi High Court's October directive had called for urgent measures to address these gaps.

Experts and advocacy groups have repeatedly demanded an overhaul of the NPRD 2021 to introduce sustainable funding mechanisms.