The Organisation of Rare Diseases of India (ORDI) has urged the Union government to increase the Rastriya Arogya Nidhi (RAN) grant of Rs. 15 lakh and allocate dedicated funds to the other income categories too to meet the unaffordable treatment costs, especially of rare diseases.

Besides, there is an urgent need to finalise the draft of the National Policy for Treatment of Rare Diseases (NPTRD), said Prasanna Shirol, founder-director, ORDI. The organization recently organiseed ‘the Racefor7’ a virtual platform pan-India, to participate and create awareness on rare diseases affecting 1 in 2,500 people, as per the ICMR data. The event was also organized to bring to fore the limited healthcare facilities to treat the rare diseases in the country.

RAN is a one-time assistance for treatment of Group 1 diseases including liver transplantation and stem cell therapy and is applicable only for BPL (below the poverty line) patients.

This, according to ORDI, is inadequate for poor patients in the wake of poor healthcare infrastructure and the government also needs to bring in financial assistance to the general population diagnosed of the condition as in India, access to funds for common people impacted by rare diseases is as good as nil.

Currently, no hospitals provide full-fledged treatment for rare disease.  But the draft of NPTRD has identified government centres which include All India Institute of Medical Sciences, New Delhi, Maulana Azad Medical College, New Delhi, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Post Graduate Institute of Medical Education and Research, Chandigarh, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, King Edward Medical Hospital, Mumbai, Institute of Post-Graduate Medical Education and Research, Kolkata and Center for Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru.

Some genetic consultants advice on diagnostics and patient care. Besides neurologists, gastroenterologists, orthopaedics, and rheumatologist diagnose based on symptoms pronounced.

Rare diseases are categorized as treatable and non- treatable. For treatable conditions, currently in India, there are no facilities available. Barring Karnataka, treatment is provided for lysosomal storage disorders (LSD), and PID (primary immunodeficiency) following a High Court interim order. In some cases, with judiciary interventions, the beneficiaries of Employee State Insurance (ESI) diagnosed with LSD have treatment access, Shirol, told Pharmabiz.

Most rare diseases are serious, chronic and progressive in nature. There are debilitating and life threatening rare conditions like for instance pompe disease affecting the respiratory system. In DMD, patients lose mobility after a certain age. In cystic fibrosis, patients suffer continuous respiratory issues while being immune-compromised. There are other conditions like PID, where  patients have dietary restrictions. In haemophilia and thalassemia, patient needs blood transfusion.

There are life threatening conditions in LSDs like Gaucher, MPS, where the patient could succumb if left untreated. Certain conditions like IEMs (In-Born Errors of Metabolism) where if newborn screening is not done and formulated dietary intervention does not happen at an earlier stage, the child suffers mental retardation, he said.

Usually Europe and US have their own definition for rare diseases. But India’s Clinical Trial Rules 2018 and ministry of health and family welfare order of 2019 define orphan drug as intended to treat a condition affecting less than 5 lakh people. WHO estimates India’s rare disease burden to be 70 million patients.

Although health ministry identified 450 rare diseases, the list is not available. There is a large undiagnosed population and only advanced diagnostics will widen the scope to detect early and quickly, Shirol said.

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