Boy being treated for rare non-cancerous tumors at Thiruvananthapuram hospital

The news of a child receiving treatment for Plexiform Neurofibroma (PN), a rare, non-cancerous tumor, at a Thiruvananthapuram hospital under the KARE (Kerala Against Rare Diseases) scheme using a patented drug, offers a crucial lens into India's evolving public health landscape. This instance highlights both the immense challenges posed by rare diseases and the innovative, multi-faceted approaches being adopted at state and national levels to address them. Understanding this case requires delving into the broader context of rare diseases, the policy framework, and the intricate web of stakeholders involved.

Rare diseases, often termed 'orphan diseases' due to the lack of commercial interest in developing treatments, affect a small percentage of the population but collectively represent a significant public health burden. Globally, there are an estimated 7,000-8,000 rare diseases, with approximately 80% being genetic in origin. In India, while exact prevalence data is scarce, estimates suggest that 70-90 million people could be affected. These conditions are characterized by chronic debilitating nature, high morbidity and mortality, diagnostic delays (often called 'diagnostic odyssey'), and extremely high treatment costs, often involving specialized 'orphan drugs' which may be patented and imported.

Historically, rare diseases received limited attention in India's public health discourse, which predominantly focused on communicable diseases and maternal and child health. However, increasing awareness, advocacy by patient groups, and advancements in medical science have pushed rare diseases onto the policy agenda. The first significant step was the National Policy for Rare Diseases (NPRD) 2017, though it faced implementation challenges and was subsequently withdrawn. A revised and more comprehensive National Policy for Rare Diseases (NPRD) 2021 was launched by the Ministry of Health and Family Welfare. This policy aims to lower the cost of treatment, promote indigenous research and development of drugs, and create a robust support system. It categorizes rare diseases into three groups and provides financial support of up to ₹50 lakh for Group 1 diseases (amenable to one-time curative treatment) through the Rashtriya Arogya Noshth (RAN) scheme. For Group 2 and 3 diseases, it encourages crowdfunding and establishing Centres of Excellence (CoEs).

The Kerala Against Rare Diseases (KARE) scheme, under which the child is being treated, exemplifies a proactive state-level initiative that complements national efforts. Kerala, known for its strong public healthcare system, has demonstrated leadership in this area. KARE aims to provide financial assistance and facilitate access to diagnosis and treatment for patients with rare diseases, recognizing the prohibitive costs involved. The use of a patented drug underscores the global nature of pharmaceutical innovation and the challenges of access and affordability. Patented drugs, protected under the Patents Act, 1970, ensure that pharmaceutical companies can recoup their R&D investments, but often come with high price tags, making them inaccessible to many.

Key stakeholders in this scenario include the patient and their family, who bear the primary emotional and financial burden; the Thiruvananthapuram hospital, representing the specialized medical infrastructure and expertise; the Kerala government, through the KARE scheme, demonstrating state commitment to public health; pharmaceutical companies, holding patents for crucial life-saving drugs; and the central government, with its overarching NPRD 2021 and regulatory bodies like the Central Drugs Standard Control Organization (CDSCO). The collaborative efforts, or lack thereof, between these stakeholders significantly impact patient outcomes.

This issue holds immense significance for India. Socially, it highlights the need for equitable access to healthcare, ensuring that no citizen is left behind due to the rarity or cost of their illness. Economically, the high cost of treatment for rare diseases can push families into poverty, impacting national productivity and healthcare budgets. Politically, it tests the principles of federalism, with states like Kerala stepping up to fill gaps in national policy. It also underscores the importance of domestic research and development in pharmaceuticals to reduce reliance on expensive imported drugs and to tailor treatments to India's specific disease burden.

Constitutionally, the state's responsibility towards public health is enshrined in **Article 21 (Right to Life and Personal Liberty)**, which has been interpreted by the Supreme Court to include the right to health. Furthermore, **Article 47 (Duty of the State to raise the level of nutrition and the standard of living and to improve public health)**, a Directive Principle of State Policy, guides the state in making effective provisions for securing the right to public health. The NPRD 2021 and state schemes like KARE are direct manifestations of these constitutional mandates.

Looking ahead, the future implications are significant. There is a pressing need for a sustainable funding model for rare disease treatments, potentially involving public-private partnerships, health insurance schemes, and a dedicated rare disease fund. Enhanced focus on early diagnosis through newborn screening programs, incentivizing indigenous research and manufacturing of orphan drugs (perhaps through 'orphan drug' designation and market exclusivity), and strengthening genetic counseling services are crucial. Furthermore, better coordination between the central government's NPRD and state-specific initiatives will ensure a more cohesive and effective national strategy for addressing the challenges of rare diseases in India. The Kerala model offers valuable lessons for other states in developing their own robust frameworks for rare disease management.