The Delhi High Court has set up a five-member panel to implement the Centre’s rare diseases policy in an efficient manner and ensure that its benefits reaches patients.

The National Rare Diseases Committee will also look into the case of these patients, enrolled with the All India Institute of Medical Sciences (AIIMS), Delhi, and the manner in which their treatment can begin.

Under the National Policy for Rare Diseases, 2021, hundreds of patients – mostly children – are registered with the ‘Digital Portal for Crowdfunding and Voluntary donations for Patients of Rare Diseases’ by the Union Health Ministry. However, the government has been unable to fully finance their treatment due to high costs, resource constraints, and competing health priorities.

Justice Prathiba M. Singh, in her order dated May 15, observed, “…there is a need for some urgent steps to be taken in close coordination between the medical community, the providers of therapies for rare diseases and Governmental agencies”.

“Under the current framework, the Centres for Excellence are not centrally coordinated, leading to lack of timely availability and adequate therapies for patients with rare diseases,” she added.

The court ordered the panel to explore procurement of therapies and drugs, and the creation of associated logistical framework to administer treatment.

The High Court has been hearing a batch of petitions by rare disease patients and their caretakers, which contend that medicines and therapies are exorbitantly expensive. If these are not made available, the children’s well-being would be severely jeopardised, the petitions argue.

Children in need of care

Over the years, the number of patients on the Health Ministry’s list has risen to 574, but mere registration does not guarantee timely treatment. Many parents said their children are suffering for want of treatment critical for survival.

Tarush Goel, a resident of Uttar Pradesh’s Amroha, suffers from Hunter Syndrome (MPS II), a genetic disorder that causes skeletal abnormalities, respiratory issues and other problems. His father, Abhishek Goel, said they had visited AIIMS several times, but the doctors had told him there were no medicines to treat the six-year-old. “Now, we are not giving him any medication or treatment,” he added.

Neeraj Aggarwal, whose nephew Raghav suffers from the same rare disease, said he follows up with doctors at AIIMS every three-four months. A resident of Bandeo in Uttar Pradesh, Mr. Aggarwal said the medicine for Raghav’s condition is “not fully tested” and at a developmental stage.

“We have been told there is an experimental enzyme therapy. Each injection costs₹2-3 lakh. We don’t know whether it will work and if it will be lifelong. Since we cannot afford the therapy, we hope to get it through the government scheme,” he added.

Legal intervention

On December 2021, the Delhi HC had urged the Centre to look into the matter, saying that patients identified under the National Policy for Rare Diseases cannot be made to suffer due to lack of funds. “Any delay in commencement of their treatment may prove to be fatal and defeat the very purpose for which the above-mentioned policy was created,” it had noted.

The court has heard the case from time to time, issuing various directions to enable treatment of the children and making medicines available to them.

In its latest order, the High Court ordered the National Rare Diseases’ Committee to take up on an “urgent basis” the immediate requirement of patients to commence the treatment stopped due to lack of funding.