‘Rare’ Doesn’t Mean Invisible

Spinal Muscular Atrophy (SMA), a rare but life-threatening genetic neuromuscular disorder, is drawing increasing attention in India. Once considered obscure and often misdiagnosed, SMA is now being identified earlier — sometimes within days of birth — due to expanding newborn screening initiatives and heightened clinical awareness. As high-cost therapies slowly become more accessible and policy conversations around rare diseases gain momentum, a key question emerges: are SMA cases actually rising, or are we simply detecting them sooner?What is SMA?Spinal Muscular Atrophy is caused by mutations in the SMN1 gene, leading to degeneration of motor neurons in the spinal cord. This results in progressive muscle weakness, difficulty in swallowing and breathing, and, in severe forms, early mortality. Globally, SMA affects approximately 1 in 10,000 live births. In India, precise incidence data remains limited due to historically low screening coverage and underreporting. Early diagnosis is crucial, as treatment outcomes are significantly better when therapy begins before symptoms appear.Dr. Anaita Udwadia-Hegde, a paediatric neurologist in Mumbai, says awareness has improved significantly over the last decade. “Earlier, families would go from doctor to doctor for months before someone suspected SMA. Today, paediatricians are far more alert to early signs such as poor head control or delayed milestones,” she explains.The Screening ShiftIn recent years, pilot newborn screening programs in select Indian states have started including SMA in their panels. Clinicians say this has dramatically changed the diagnostic landscape. Previously, families often spent months or even years seeking answers for delayed milestones or muscle weakness. Today, some babies are identified through genetic screening before symptoms become pronounced.Dr. Arun Shah, a paediatric neurologist in Mumbai, explains that earlier detection is giving families options that did not exist a decade ago. “We are not necessarily seeing more cases. We are seeing them earlier and more accurately,” he says. Historically, limited genetic testing facilities meant many children were misdiagnosed with general developmental delays or cerebral palsy.As awareness spreads among paediatricians and neonatologists, referrals for genetic testing have increased. The result is an apparent spike in reported cases — though experts believe the true incidence has likely remained consistent.The Treatment Revolution — and Its CostsThe global breakthrough in SMA treatment came with gene-based therapies such as Zolgensma and disease-modifying drugs like Spinraza. These therapies can dramatically alter disease progression, especially if administered early. However, they are among the most expensive treatments in the world. A single dose of Zolgensma, often described as a “one-time gene therapy,” can cost upwards of `14–16 crore in India, depending on import and hospital charges.The financial burden is overwhelming for most Indian families. Crowdfunding campaigns have become a common route to raise funds, often turning into national conversations about healthcare inequities. While some state governments and corporate donors have stepped in to support individual cases, systematic public funding remains limited.India’s National Policy for Rare Diseases (NPRD) provides financial assistance for certain rare conditions, including SMA, but funding caps rarely cover the full cost of therapy. Families frequently face additional expenses such as long-term respiratory support, physiotherapy, mobility aids, and frequent hospital visits.Emotional and Social TollBeyond finances, the emotional strain on families is immense. Parents often grapple with guilt, confusion, and fear upon learning that SMA is inherited in an autosomal recessive pattern — meaning both parents are typically silent carriers.Genetic counselling is emerging as a critical component of SMA care. Experts stress that counselling helps families understand recurrence risks and make informed reproductive decisions. Support networks — both online and offline — have grown in recent years, offering families spaces to share experiences and navigate treatment pathways. Yet disparities remain stark. Urban families with access to tertiary care centres are more likely to receive timely diagnosis and intervention compared to those in rural regions.Are Cases Truly Increasing?Clinicians largely agree that SMA incidence itself is unlikely to be rising. Instead, improved diagnostic tools, better clinician awareness, and expanded newborn screening are revealing cases that would previously have gone undetected or misclassified.India’s rare disease ecosystem is also evolving. More genetic testing laboratories are operating domestically, reducing turnaround time and cost. Dr. Meera Iyer, a clinical geneticist in Bengaluru, notes that earlier identification fundamentally changes prognosis. “When we diagnose pre-symptomatically, especially in Type 1, outcomes are dramatically better. The disease does not progress the same way,” she explains. This shift reinforces the argument for universal newborn screening, though cost and infrastructure remain barriers.While policy momentum exists, implementation remains uneven. Healthcare access in India varies dramatically across states, and rare diseases often fall outside routine public health priorities. Early diagnosis proves that outcomes can change. But equitable access remains the defining challenge.A Turning PointThe increased detection of Spinal Muscular Atrophy in India does not necessarily signal a rise in cases — it reflects progress in awareness and diagnosis. As newborn screening expands and treatment conversations evolve, the focus must shift from isolated success stories to sustainable systems.The future of SMA care in India will depend not only on medical innovation, but on infrastructure, funding, and the political will to ensure that rarity does not mean neglect.The Bigger Picture: Rare Disease InfrastructureSMA’s growing visibility highlights broader challenges in India’s rare disease framework. Experts emphasize the need for:• Nationwide newborn screening programs that include SMA• Subsidized access to genetic testing• Sustainable funding mechanisms for high-cost therapies• Expanded training for genetic counsellors• Long-term rehabilitation infrastructure



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