The PEOPLES WITH RARE DISEASES AND YOUR RIGHT TO ORPHAN MEDICATION AND SPECIALIZED TREATMENT

PEOPLE WITH RARE DISEASES AND THEIR RIGHTS

Abstract

The research took a multidisciplinary approach to Rare Diseases (RDs), which affect 5% to 7% of the global population, with approximately 7,000 known types. Without an effective cure, available treatments only stabilize or slow disease progression, making multidisciplinary therapies essential. However, RDs are neglected by public authorities, healthcare systems, and the pharmaceutical industry, leading to delays in diagnosis, lack of medical coverage, and social exclusion. The influence of the pharmaceutical market in this context is evident, making the relationship between patient associations and industries complex. The right to health for people with RDs goes beyond access to medications, including accurate diagnosis and continuous monitoring. The judicialization of healthcare, a consequence of ineffective public policies, benefits pharmaceutical industries and lawyers more than patients, as Orphan Drugs (ODs) are high-cost and commercially unattractive. Poor management and implementation of policies drive legal actions, forcing many patients to seek judicial intervention to obtain necessary ODs. Additionally, fundraising campaigns highlight the lack of inclusion of these medications in essential treatment lists. Prioritizing RDs in public policies requires coordination between the Judiciary, the Executive branch, and technical agencies to ensure universal, equitable, and comprehensive access to treatment, reaffirming health as a fundamental right, inseparable from the right to life.