Community workshop on Spinal Muscular Atrophy held in Thiruvananthapuram

The community workshop on Spinal Muscular Atrophy (SMA) held in Thiruvananthapuram, Kerala, highlights a critical aspect of public health in India: the growing focus on rare diseases. While often overshadowed by more prevalent conditions, rare diseases like SMA pose significant challenges to individuals, families, and the healthcare system. Understanding such initiatives requires delving into the broader context of rare diseases, policy frameworks, and the societal implications.

**Background Context: The Silent Burden of Rare Diseases**

Rare diseases, by definition, affect a small percentage of the population. However, collectively, they represent a substantial public health burden. In India, a disease is considered rare if it affects fewer than 1 in 10,000 individuals. SMA is a severe, progressive neuromuscular disorder caused by a genetic defect in the SMN1 gene, leading to a deficiency of survival motor neuron (SMN) protein. This deficiency results in the degeneration of motor neurons in the spinal cord and brainstem, causing muscle weakness, atrophy, and often, premature death. Early diagnosis is crucial, as recent advancements have led to gene therapies and other treatments that can significantly alter the disease's trajectory, especially if administered early. However, these treatments come with exorbitant costs, often running into crores of rupees, making them inaccessible to the vast majority of Indian patients.

**What Happened: A Step Towards Awareness and Support**

The workshop in Thiruvananthapuram was a crucial community-level initiative aimed at fostering awareness about SMA. Such events serve multiple purposes: educating the public and healthcare professionals about the symptoms, diagnosis, and management of SMA; connecting affected families with support networks; and advocating for better policy interventions. Kerala, with its high literacy rates and relatively robust public health infrastructure, often leads in health awareness campaigns, making it an ideal location for such a workshop. These workshops empower patients and caregivers by providing information and a platform for shared experiences, reducing the isolation often felt by those dealing with rare diseases.

**Key Stakeholders Involved: A Multi-faceted Challenge**

The fight against SMA involves several critical stakeholders. At the forefront are the **patients and their families**, who bear the direct physical, emotional, and financial brunt of the disease. **Medical professionals**, including neurologists, pediatricians, geneticists, and physiotherapists, are vital for diagnosis, treatment, and ongoing care. **Patient advocacy groups and Non-Governmental Organizations (NGOs)**, such as Cure SMA India and the Organisation for Rare Diseases India (ORDI), play an indispensable role in raising awareness, facilitating access to treatment, providing support, and lobbying the government for policy changes. The **Government of India**, through the Ministry of Health and Family Welfare and state health departments, is a key stakeholder responsible for policy formulation, funding, and creating a supportive ecosystem. Finally, **pharmaceutical companies** are crucial for research, development, and manufacturing of life-saving drugs, though their pricing strategies often create significant access barriers.

**Significance for India: Health Equity and Economic Burden**

This workshop, and the broader issue of rare diseases, holds immense significance for India. Firstly, it underscores the challenge of **health equity and access**. The prohibitive cost of SMA treatments (like Zolgensma, estimated at over ₹16 crore) means that only a tiny fraction of patients can afford them, highlighting severe disparities. Secondly, rare diseases place a substantial **economic burden** on families and the healthcare system. Lack of early diagnosis and effective treatment can lead to prolonged disability, loss of productivity, and increased healthcare expenditure. Thirdly, it pushes for **medical research and development** within India, reducing reliance on expensive imported drugs and fostering indigenous solutions. Socially, addressing rare diseases promotes **inclusion and human rights**, ensuring that individuals with these conditions are not left behind and receive the necessary support to lead dignified lives.

**Historical Context and Policy Evolution**

Historically, rare diseases received limited attention in India's public health discourse, which was primarily focused on communicable diseases and maternal and child health. However, with increasing awareness and advocacy, the government recognized the need for a dedicated framework. The **National Policy for Rare Diseases (NPRD) 2021** was a landmark step. It aims to lower the cost of treatment, promote indigenous research, and establish a national registry. While the policy has faced challenges, particularly regarding funding mechanisms for expensive treatments, it signifies a crucial shift towards acknowledging and addressing the needs of rare disease patients. Prior to this, ad-hoc measures and individual petitions were often the only recourse for families.

**Future Implications: Towards a Comprehensive Framework**

The Thiruvananthapuram workshop is a microcosm of a larger movement towards greater awareness and action on rare diseases. In the future, we can anticipate increased efforts in: **early diagnosis and screening**, potentially through newborn screening programs; **expansion of genetic counseling services**; **development of a robust national rare disease registry** to gather epidemiological data; **innovative funding models** for expensive treatments, possibly involving public-private partnerships or a dedicated rare disease fund; and **greater focus on indigenous research and manufacturing** of orphan drugs. The implementation of NPRD 2021, with necessary modifications, will be critical in shaping India's approach to rare diseases, moving towards a more equitable and accessible healthcare system.

**Related Constitutional Articles, Acts, or Policies**

Several constitutional provisions and legal frameworks are relevant. The **Directive Principles of State Policy (DPSP)**, particularly **Article 38** (State to secure a social order for the promotion of welfare of the people) and **Article 47** (duty of the State to raise the level of nutrition and the standard of living and to improve public health), lay the foundation for state responsibility in healthcare. The **Right to Life and Personal Liberty (Article 21)** has been interpreted by the Supreme Court to include the right to health. The **Rights of Persons with Disabilities Act, 2016 (RPwD Act)** is crucial for ensuring the rights and inclusion of individuals with SMA who often develop significant disabilities. The **National Policy for Rare Diseases (NPRD) 2021** is the most direct policy framework addressing this issue, aiming to provide financial support, promote research, and create a registry. Schemes like **Ayushman Bharat Pradhan Mantri Jan Arogya Yojana (AB-PMJAY)**, while providing health insurance, face limitations in covering the extremely high costs associated with rare disease treatments, prompting calls for specific provisions.