When a disease presents clear, visible symptoms, it provides a sense of control, even in difficult situations. You can consult a doctor, undergo tests, and follow a treatment plan with some confidence in the next steps. While there may still be obstacles, at least the path forward is somewhat predictable because the symptoms guide the response. However, when symptoms aren’t immediately visible, yet the condition could be life-threatening—especially for an infant—the uncertainty can be overwhelming. In such cases, early detection becomes not just helpful, but critical.
Therefore, the conversation on rare diseases is vital and awareness around it is needed. In the present moment, rare diseases are difficult to identify and can go unidentified until a kid develops an illness that is deadly. For instance, if the child is unable to sit without support, or is finding it difficult to breathe or feed, might even have difficulty in swallowing.
Spinal Muscular Atrophy (SMA) might not be a familiar term to most, but for the families facing its harsh reality, it is nothing short of life-altering. Spinal Muscular Atrophy (SMA) impacts the central nervous system, peripheral nervous system, and voluntary muscles, resulting in significant difficulty with movement for the patient. These differences complicate diagnosis, as symptoms like muscle weakness can be mistaken for other conditions. Tragically, delayed diagnosis often results in missed opportunities for early interventions that could improve quality of life. In India, where registries for rare diseases are lacking, where approximately 70 million people grapple with 450 rare diseases, including the particularly debilitating Spinal Muscular Atrophy (SMA) the true prevalence of SMA remains unclear, but it stands as a leading cause of infant mortality.
This rare genetic disorder can rob young children of their ability to walk, sit, or even breathe unaided. Often overshadowed by more well-known conditions, such as Asperger's Syndrome and Attention Deficit Hyperactivity Disorder, SMA carries a weight that deserves our collective attention and empathy. But beyond emotional support, we must also foster awareness of its early signs and symptoms, as early detection and intervention can make a significant difference.
As with many rare diseases, living with SMA means navigating a world of barriers—limited access to healthcare, financial constraints, and the emotional toll of uncertainty. Advancements in care for SMA can help manage symptoms and improve life expectancy. But to truly make an impact, the public and healthcare professionals alike need to better understand SMA and raising awareness is a crucial first step toward ensuring that no family faces this disease alone.
By advocating for better policies and healthcare support and fostering a deeper understanding of the realities of SMA, we can help bridge the gap in resources and care. Therefore it is also important to have knowledge of the policies. The National Policy for Rare Diseases (NPRD) offers several key initiatives to support the treatment of rare diseases in India. Patients can receive financial assistance of up to Rs. 50 lakhs for treatment at designated Centres of Excellence (CoEs). The policy also promotes research and development to advance the diagnosis and treatment of rare diseases, while emphasising the importance of early detection through screening and counselling programs to reduce their incidence. Additionally, the NPRD maintains a registry of rare diseases to improve data collection and understanding and includes a crowdfunding mechanism to provide further financial support to patients in need.
Behind every statistic, there’s a child and a family fighting with courage, resilience, and hope. It is important to amplify their voices, creating a future where SMA is recognised, understood, and treated with the urgency it deserves.
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