Rare Diseases (RD) are defined as conditions affecting <1 in 2000 individuals within a population. To date, more than 7000 RD have been characterised, affecting approximately 4.2 million South Africans. This prevalence equates to 1 in 15 individuals in the South African population, signifying a considerable public health concern. Individuals impacted by RD face significant and diverse challenges including receiving a timely diagnosis, gaining access to the already limited and costly treatments available, and navigating the complexities of living with disease-related disabilities.
To address these exceptional challenges faced by RD patients in South Africa (SA), the Rare Disease Access Initiative (RDAI) was established in 2019. This initiative, formed through a coalition which includes the Board of Healthcare Funders, Health Funders Association, Innovative Pharmaceutical Association of SA and Rare Diseases SA NPC, aims to enhance equitable access to accurate diagnoses and suitable treatments and healthcare services for affected individuals in SA, while maintaining affordability and sustainability.
Aiming to optimise patient outcomes, RDAI identified six key strategic priorities for inclusion in a proposed National RD Framework and Strategy. These include timely and accurate diagnosis, gaining access to equitable and appropriate treatments that are financially sustainable, comprehensive data collection and management, improved and accessible coordinated care, access to affordable and high-quality healthcare services and participation in collaborative research.
Going forward, RDAI will continue to address challenges faced by RD patients, strive to ensure RD inclusion in the National Health Insurance, and promote universal health coverage for those impacted by RD in the context of the 2030 Sustainable Development Goal 3 targets.