Decision to withhold NPTRD is blow to rare disease patients

Pritesh, 26, lives in Ahmedabad with his parents and a single, unmarried sister. He is not normal. Pritesh needs to be fed, cleaned, carried and in general, intensively cared for at all times by his caregivers. 

He suffers from a rare genetic disease called Mucopolysaccharidosis (Mpan>II, or Hunter Syndrome – one of the 450 identified rare diseases in India. 

Since most rare diseases, about 80 percent, are genetic, they largely affect children. When it comes to helping patients with rare diseases, the government has taken one step forward and two steps backwards. 

The government’s abrupt decision to put the National Policy for Treatment of Rare Diseases (NPTRD) in deep freeze has crushed the horare disease patients, their parents and caregivers. 

What lies ahead for them, especially children, is uncertainty and death.

The Indian government’s National Health Policy 2017, recognised the need for state-level management of rare/orphan diseases and NPTRD was drafted in August 2017. 

It seemed at that time that things were indeed serious, and the policy draft was published in February 2018, with the National Health Mission (NHM) being tasked to execute it by September, 2018. 

Shortly thereafter, it was put on a technical hold. The issue, as claimed by the government, was the ‘tertiary’ classification of rare diseases as a category, and since the NHM could only deal with primary and secondary diseases, rare diseases were out of its purview. The NPTRD was now on hold! 

However, on December 10, 2018 a notification of the Ministry of Health said that a 10-member committee has been formed to draft a revised policy. 

The delay in implementing the NPTRD puts a question mark on the future of rare disease patients like Pritesh, who may lose their lives in the absence of proper treatment, or rendered ineligible for therapy due to the disease’s progression.

The draft policy had a provision for setting up a corpus of Rs 100 crore as the Centre’s contribution towards rare-disease treatment, which was to be supplemented by individual states’ contributions in a matching ratio of 60:40 to the Centre’s. 

However, even here there are bottlenecks. States’ technical committees need to approve patient applications and then put them up to the Centre for funds and even then, there is no binding regulatory mechanism to ensure the fund’s release. 

The draft policy needs to be clearer about pecuniary responsibilities and implementation of its final ownership and accountability between the states and the Centre.

It is essential that the government reviews and removes the bottlenecks in the policy promulgation for the sake of the millions of sufferers, at the earliest. 

The government had set out to draft a policy on treatment of rare diseases as per the Delhi High Court order of May 2017, a laudable first step.

It is a matter of worry that this policy, a result of high-level, competent committee-based deliberations, has been put on the back-burner. 

The burden of an interminable legal process is being forced on the patients and delayed justice is cruelly translating into a denial of justice, as well as a denial of their right to life.  

It is important that in the interest of millions of rare disease patients, the ministry should immediately take necessary steps to ensure that the funds and the directives of the NPTRD are notified right away. 

This will ensure not only patient care, but also go a long way in shoring up the ancillary support superstructure such as diagnosis, insurance, training, research, disease management and so on. 

In India today, the most common rare genetic diseases are Gaucher, Fabry and MPS syndromes. To address them, we must first understand the three key challenges that relate to rare diseases in the Indian context.

The first challenge for rare disease management relates to the fact that although described as “rare”, they affect a considerable proportion of the population.  

Secondly, the lack of treatment and rehabilitation infrastructure is a daunting challenge. Doctors for rare disease treatment today do not number more than 50 in India!

That is less than 1 per million patients! With skills and experience in this field so rare, it is a sad fact that the total number of specialist hospitals and treatment centres in the country do not exceed more than 10.

Author, who is living with Gaucher disease, is secretary and national coordinator, Lysosomal Storage Disorders Support Society