Rare disease expert seeks Health Ministry intervention for comprehensive policy
New Delhi, Oct 4 (TNT): Dr Naresh Purohit, Executive Member of the Indian Medical Academy for Preventive Health, on Sunday urged the Union Health Ministry to take immediate steps to strengthen the implementation of the National Policy for Rare Diseases and ensure better access to diagnosis and treatment for patients.
In a letter addressed to Union Health and Family Welfare Minister J P Nadda, Dr Purohit said rare diseases were debilitating conditions requiring immediate attention and called for a comprehensive policy framework to address the challenges faced by patients.
He said, according to the World Health Organisation (WHO), rare diseases typically affect fewer than one in 1,000 people, while an estimated 70 million people in India were affected by around 450 rare diseases, including Spinal Muscular Atrophy (SMA).
Dr Purohit, a certified ICMR research scholar, said SMA was a rare genetic disorder marked by progressive loss of motor neurons, resulting in severe muscle weakness and potentially life-threatening complications.
Patients with SMA often had limited access to treatment, he said, stressing the need for early identification, intervention and adequate support.
Despite the introduction of the National Policy for Rare Diseases in 2021, several challenges continued to affect patients, particularly those suffering from SMA, he said.
The Centre has established 11 Centres of Excellence for rare diseases to provide counselling, diagnosis, management and multidisciplinary care, but utilisation of funds by these centres had not been encouraging, Dr Purohit said.
Several Centres of Excellence also lacked adequate infrastructure and skilled personnel for genetic diagnostics, counselling and advanced therapies, he added.
Dr Purohit said only around 40 per cent of patients received a diagnosis with current diagnostic tools, while nearly 60 per cent remained undiagnosed even after undergoing comprehensive investigations.
The prolonged diagnostic process often lasted for decades, with patients consulting multiple specialists and undergoing repeated investigations without obtaining a definitive diagnosis, he said.
Patients in rural and remote areas faced an additional burden as they had to travel to cities for specialised consultations, resulting in higher financial costs and emotional distress for families, he added.
Dr Purohit urged the Health Ministry to strengthen the implementation of the National Policy for Rare Diseases, improve infrastructure and manpower at Centres of Excellence and ensure affordable access to diagnosis, treatment and advanced therapies for rare disease patients.
“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,” he added.
TNT KS
