Over 300 children in India with rare diseases are currently unable to receive treatment because the Union health ministry has not released funds it has pledged, a body that represents parents of affected kids has said.

The Rare Diseases India Foundation has urged health minister Mansukh Mandaviya to intervene and take steps to enable eight hospitals across the country designated as centres of excellence for rare diseases to start treating the eligible patients.The eight centres of excellence — the Institute of Post-Graduate Medical Education and Research, Calcutta, among them — have identified through diagnostic screening around 340 children as patients eligible for treatment.

The others are in Bangalore, Chandigarh, Delhi, Hyderabad, Lucknow and Mumbai.The children, most of whom are below 15 years, have rare congenital diseases called Gaucher disease, Fabry disease and Fanconi anaemia, among others — with incidence rates ranging from one per 25,000 live births to over one per 4 million live births.

Some disorders are amenable to one-time curative treatments, others require life-long therapy. Without treatment, children often die at a young age.The health ministry through an office memorandum on May 19 this year raised the one-time financial support for each patient under its National Policy for Rare Diseases 2021 to Rs 50 lakh from Rs 20 lakh pledged last year.

The 2021 policy had restricted financial support for “patients with rare diseases that require a one-time treatment”, but the May 19 memorandum said Rs 50 lakh would be provided to patients suffering from “any category of rare diseases”. No money has been released since the inception of the programme last year.“It is over two months since the ministry released the memorandum, but treatment hasn’t started in any of the eight centres,” said Saurabh Singh, co-founder and chairperson of the Rare Diseases India Foundation.

The foundation, in a July 29 letter to health minister Mandaviya, said the centres for excellence “are awaiting operational guidelines and a clear approval” from the ministry to start treatment for eligible patients.A health ministry official told The Telegraph that the funds “are in the process of being released after some formalities are completed”.

Most families with children with rare diseases would be dependent on government funds because treatment, as one parent put it, is “expensive to exorbitant”.

The treatment cost for a 10kg child may range from Rs 10 lakh to over Rs 1 crore annually.The National Rare Disease Policy recognises the challenges to providing treatment for patients with rare diseases when resources are limited.“Interventions that address the health problems of a large number of persons by allocating a relatively smaller amount are prioritised over others such as funding treatment of rare diseases where much greater resources will be required to address the health problems of a far smaller number of persons,” the policy document said.

The policy seeks to lower the incidence of the rare disorders through pre-marital, pre-conception and post-conception counselling and screening and to support treatment for rare diseases amenable to one-time treatment or relatively low-cost therapy.The Rs 50 lakh pledged provides “some hope” to patients with rare diseases potentially curable through one-time treatment, said Prasanna Shirol, director of the Organisation for Rare Diseases India (ORDI), another parents’ advocacy group.

Certain rare diseases may be cured through early treatment, which may include kidney or liver transplants among other therapies. “The count of rare diseases that have one-time curative treatment is slowly increasing with advances in medicine,” said Ashok Gupta, a a professor of paediatrics in charge of the rare diseases initiative at the SMS Medical College, Jaipur.But, doctors familiar with rare diseases say, even the one-time treatment could cost anywhere from Rs 20 lakh to several crore rupees.“The policy does little for rare disease patients who require life-long treatment,” said Shirol.