Comprehensive Rare Disease Policy is the need of the hour: Dr Purohit
Calling for Urgent action on awareness and treatmernt of Rare Diseases, our Community Health expert *Dr. Natresh Purohit advocates for a comprehensive policy on the issue by Health Administration
New Delhi/ Bhopal : Dr. Naresh Purohit,Executive Member- Indian Medical Academy
For Preventive Health was speaking at an Awareness Programme on Rare Disease organised by the Bhopal based AIIMS, he said that rare diseases are debilitating conditions that require immediate attention. A robust policy framework, coupled with enhanced patient care, can offer hope, and alleviate the immense burden borne by those living with these rare, yet devastating, conditions . A comprehensive Rare Disease Policy is the need of the hour. Voicing his concern on this issue after addessing the programme noted Epidemiologist Dr Purohit told News on Radar that he has written a letter in this regard to the Union Minister for Health and Family Welfare Shri JP Nadda informing him that according to the World Health Organization (WHO), rare diseases typically affect fewer than 1 in 1,000 individuals, and in India, around 70 million people grapple with 450 rare diseases, including the particularly debilitating Spinal Muscular Atrophy (SMA).
Acclaimed medic said that Spinal Muscular Atrophy is a rare genetic condition characterized by the progressive loss of motor neurons, resulting in severe muscle weakness and potential life-threatening complications. Patients with SMA have either no access to treatment or are left with very limited options for cure. With thousands affected in India, raising awareness, providing support, and implementing effective strategies for early identification and intervention are crucial.
“Despite the introduction of the National Policy for Rare Diseases (NPRD) in 2021, specific challenges posed by SMA persist. The NPRD aims to reduce the incidence and prevalence of rare diseases through awareness campaigns, screenings, and counseling programs. The central government has established 11 Centers of Excellence (CoE) across the country to assist with rare diseases through counseling, diagnosis, management, and comprehensive multidisciplinary care but the utilization of funds by these CoEs has not been very encouraging” he averred
He revealed that numerous Centers of Excellence (CoEs) currently lack the essential infrastructure and skilled personnel needed for crucial services such as genetic diagnostics, counseling, and advanced therapies.
He emphasised that India has a high burden of rare diseases due to its large population and socio-economic factors. Ensuring the right policies for rare disease patients in India is not just a matter of healthcare; it’s a commitment to 
compassion, equity, and the belief that every life, regardless of rarity, deserves the opportunity for a healthier and brighter future. Urgent attention is required to address the immediate implementation of the National Policy for Rare Diseases.
He pointed that India carries a disproportionate burden, with 70 million people estimated to be affected by rare diseases. Treatments and medical care, when available, are prohibitively expensive.
“With current diagnostic tools, only 40 per cent of patients receive a diagnosis and 60 per cent remain undiagnosed even after undergoing comprehensive diagnostic investigations because their diseases have not yet been discovered.”he added
For these patients, the diagnostic odyssey can take decades, or even a lifetime. They spend years consulting a variety of specialists, repeating investigations and yet remain undiagnosed, he said
“For patients in rural and remote areas, travelling to cities for consultations poses an additional burden. This diagnostic odyssey not only racks up financial costs but also causes immense emotional distress to patients and their families,”he observed.
**Dr. Narresh Purohit-MD, DNB, DIH, MHA, MRCP(UK), is an Epidemiologist, 
and Advisor-National Communicable Disease Control Program of Govt. of India, Madhya Pradesh and several state Health organizations. He’s the Principle Investigator – Association of Studies In Behavioural Science), Dr. Purohit is also Advisor-National Mental Health Program, Kidney Care and chief Investigaor to Hospitals Management Association of India.
