Ahead of Rare Diseases Day, experts urge action on comprehensive policy and enhanced patient care
Lucknow, 13thFebruary, 2024– 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. Kaushik Mandal Additional Professor Medical Genetics Department Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknowsaid, “Due to its vast population and socioeconomic conditions, India has a high burden of rare diseases. It is not only a question of healthcare; it is also a matter of compassion, equity, and the conviction that every life, no matter how uncommon, deserves the chance for a better and healthier future. These principles should guide the development of policies for patients with rare diseases in India. Quick action must be taken to stop more deaths in India from rare diseases. The National Policy for Rare Diseases is a brilliant step towards the above cause; it however needs brainstorming and updating to meet the goal judiciously with the limited budget our country can afford. The Centres of Excellence (CoEs) need to be upgraded with the necessary skilled staff and infrastructure to provide critical services like counselling, genetic testing, and accurate medicines. To create a more extensive network of care providers and referral sources, proactive measures must be taken to promote cooperation amongst CoEs, support CoEs’ involvement in public-private partnerships (PPP) and enable CoEs to form strategic alliances with other important regional institutions of national importance.”
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 Kaushik alsostressed the significance of a comprehensive approach to managing rare diseases, particularly SMA Type 1. “Adopting a multidisciplinary approach is not just an option, but also a clinical method while managing Spinal Muscular Atrophy (SMA). Specialized perspectives are necessary for every aspect of SMA, ranging from pulmonology to neurology, physical therapy to dietitians and psychologists. We can negotiate the complex terrain of SMA with comprehensive care by embracing a collaborative, interdisciplinary approach that attends to all facets of the patient’s path towards a healthier and more fulfilled life”, he added
Rase diseasesare 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.
