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  • Ahead of Rare Diseases Day, experts urge action on comprehensive policy and enhanced patient care

    Published on February 21, 2024

     Kochi – As Rare Diseases Day approaches in February, healthcare experts are calling for a comprehensive Rare Disease Policy as the need of the hour. 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).

    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. However, focused efforts are needed to address the unique needs of SMA patients. 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. However, there are challenges in navigating the registration process for patients, particularly those from remote villages who face illiteracy and financial constraints.

    Dr. Smilu Mohanlal, Paediatric Neurologist, MIMS, Kerala emphasised, “Urgent attention is required to overcome the barriers hindering the implementation of policies addressing rare diseases in India. This urgency is evident considering the frequent hospitalizations of individuals affected by rare diseases, often due to complications stemming from their conditions. Notably, numerous Centers of Excellence lack the necessary infrastructure and trained workforce to offer genetic diagnostics, counseling, and advanced therapeutic interventions, underscoring the pressing need for swift action.”

    The policy implementation faces additional hurdles, concerning the cost-effectiveness of interventions for rare diseases in comparison to other healthcare priorities. Challenges arise in determining how expenditures should be divided between the central and state governments. These factors contribute to the complexities surrounding policy execution.

    Dr. Mary Iype, Paediatric Neurology Department, Medical College Trivandrum, Kerala stressed the significance of a comprehensive approach to managing rare diseases, particularly SMA Type 1. “Many rare-disease patients are living without access to treatment and management of their conditions either because of lack of awareness, appropriate diagnosis, and treatment options. For them, proper nutrition, physiotherapy, and emotional care are crucial components of holistic care. It is not just about medical interventions; it is about providing comprehensive multidisciplinary care that addresses the unique challenges these patients face.”

    Rase 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.

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