Rare disease patients ask for sustained funding from health ministry

Several patients and their caregivers associated with advocacy groups on Wednesday submitted a representation to the health ministry highlighting critical gaps in the implementation of the National Policy for Rare Diseases (NPRD), asking the government for sustained funding and urgent policy intervention to help patients suffering from chronic rare genetic disorders.

In a letter submitted to Health Minister Jagat Prakash Nadda, the patient groups asked the government to ensure sustained funding for all rare diseases notified under Group 3a conditions and give equal weightage to all diseases under NPRD.

According to NPRD, Group 3a conditions under the policy include conditions such as Lysosomal Storage Disorders (LSDs) for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost, and lifelong therapy.

The groups recommended that the government give uninterrupted funding to LSD patients as the current budgetary provision of up to Rs 50 lakh available per patient is only one-time, which hinders the process of saving lives for patients diagnosed with these conditions.

LSDs are primarily treated with Enzyme Replacement Therapy (ERT), which is a lifelong treatment and can cost anywhere between Rs 17 lakh to Rs 50 lakh depending on the weight of the patient. The cost increases as the weight increases.

An official with one of the advocacy groups said that although notified as a Group 3a condition in the NPRD 2021, patients diagnosed with LSDs such as Pompe disease, Fabry disease, Mucopolysaccharidosis (MPS) type I and type II are still not getting the same priority at the Centres of Excellence (CoEs), thereby delaying treatment and posing serious risk to their lives.

“The lives of many patients (mostly children) suffering from chronic rare genetic disorders, such as LSDs, are still fraught with uncertainty due to the lack of sustainable funding and delays in the effective utilisation of the allocated funds,” the letter stated.

The letter adds that several patients across the CoEs have been put off life-saving therapies after the one-time support was exhausted.

According to data available on the government’s digital portal for crowdfunding and voluntary donations for patients of rare diseases, more than 300 out of 454 LSD patients currently eligible for funding under Group 3a, are not getting any treatment in CoEs. “We have lost around 30 children due to lack of treatment till now,” an official said.

Currently, only 98 LSD patients are on government-approved treatment.

The groups also asked the government to direct CoEs to ensure efficient utilisation of funds provisioned by the ministry. “There are currently 12 CoEs across India, many of which have still not been able to effectively utilise funds, thereby limiting access to life-saving therapy,” the official added.

The groups also requested the government to include the issue of rare diseases in its 100-day action plan.

“Providing this level of importance to rare disease patients will not only underscore the government's commitment to this critical health issue but also catalyse urgent action and resource allocation to improve the lives of thousands of rare disease patients across the country,” the letter stated.