Non-profit organisations and patient rights advocates who played a crucial role in prompting the Central government to frame the National Policy for Treatment of Rare Diseases have decided to take the legal route to protect the rights of millions of sufferers as the initiative remains on paper even a year after its formulation. A public interest litigation (PIL) will be filed in the Supreme Court in July to make state governments implement the policy, it is learnt.

The much-publicised strategy is a non-starter, thanks to the reluctance of state authorities to implement it and millions of patients who pinned their hopes on treatment assistance stipulated by the policy are still in dire straits.

Organisation for Rare Diseases India (ORDI), an umbrella group focusing on improving the health of rare disease patients, had appealed to the state governments numerous times to implement state rare disease policies as per directions of the national policy. The organisation has written many letters to chief ministers and top officials of all the 29 states requesting them to speed up the process. But most of these pleas have fallen on deaf ears.

“We will file a PIL in the Supreme Court on behalf of ORDI in July to seek immediate court intervention in the matter. Since health is a state issue, it is important for the states to have their respective state policies. Nothing will happen at the ground level if state authorities fail to come forward and implement this initiative,” Ashok Agarwal, a Delhi-based lawyer who represented many rare disease patients, told Pharmabiz. Agarwal, who heads the non-profit group Social Jurist, is known for his tireless efforts to make health facilities accessible to the poor.

The World Health Organisation defines rare disease, also known as orphan disease, as an often debilitating lifelong condition or disorder with a prevalence of one or less per 1,000 population. But different countries have their own definitions depending on their specific requirements. India, as of now, doesn’t have a standard definition but experts consider disorders that affect less than one in 2,500 people as rare diseases here. It is estimated that one in 20 Indians is affected by one of the 7,000 diseases listed as rare diseases. They include genetic ailments, rare cancers, infectious tropical illnesses and degenerative diseases. As much as 50 per cent of rare diseases begin in childhood.

“We approached state authorities concerned requesting them to constitute technical committees and nominate respective state hospitals for treatments as per the national policy. But our efforts were to no avail. The decision to move the top court is taken as the State governments’ active participation is imperative for smoothening the process of providing treatment,” ORDI Centre Coordinator Mausumi Sengupta, who confirmed the group’s decision to move the court, pointed out.

It may be noted that the Union government had submitted the rare disease policy to the Delhi High Court in compliance with the court’s order. The high court had intervened as a large number of patients were appealing various courts for treatment.

Dr Mamta Muranjan, who heads the Genetic Clinic at KEM Hospital, also emphasised the need for government support. “Most patients with rare diseases remain undiagnosed for a long time. Even if the diagnosis is on time, the family of the patient is usually unable to afford the treatment cost. Insurance policies generally do not cover these life-long treatment expenses,” she says.

Thousands of rare diseases still have no approved treatment and in most cases, the cost is exorbitant. For instance, if a patient is suffering from porphyria, a rare genetic disorder, the best treatment available is an injection of human hemin. It is currently unavailable in India and has to be imported. The cost is approximately Rs.2 lakh for four shots.