THE RIGHT TO HEALTH AND THE GUARANTEE OF TREATMENT FOR RARE DISEASES: THE CASE OF SPINAL MUSCULAR ATROPHY (SMA)

Abstract

Spinal Muscular Atrophy (SMA) is a rare genetic and neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and, in severe cases, early death. Recent scientific advances have resulted in innovative therapies, such as Spinraza and Zolgensma, which can alter the course of the disease. However, access to these treatments in Brazil is limited by economic, bureaucratic, and legal barriers. This study analyzes the challenges faced by patients with SMA in Brazil in obtaining high-cost therapies, exploring the right to health, judicialization, and public policies. The qualitative research, based on bibliographic and documentary review, reveals that although the 1988 Federal Constitution guarantees the right to health, its effectiveness faces significant obstacles in practice. Judicialization, though necessary, does not systematically resolve existing inequalities and generates budgetary overload. State bureaucracy is also a barrier, with slow processes that compromise the efficacy of treatments. It is concluded that to overcome challenges in accessing SMA treatment, it is essential to implement more efficient and sustainable public policies. This includes innovative financing models, expansion of neonatal screening, decentralization of reference centers, and strengthening dialogue among the state, civil society, and the pharmaceutical industry. The effectiveness of the right to health depends on building mechanisms that ensure equity, dignity, and social justice for patients and their families.