This month our director of research and epidemiology, Dr Helen Malherbe, published yet another correspondence article in the South African Medical Journal entitled “Introducing the South African Rare Diseases Access Initiative.”
Over 7000 rare diseases (RD) have been characterised to date, affecting 1 in 15 South Africans. Individuals affected by RD face diverse and significant challenges including receiving a timely diagnosis, gaining access to the already limited treatments available and living with
disease related disabilities.
To address these exceptional challenges, The Rare Diseases Access Initiative (RDAI) in South Africa was formed as a coalition of interested groups, with the aim to promote an environment which is favourable for those with rare diseases. In particular,
the participants seek equitable access for those who need, but who do not currently have, the appropriate diagnosis, treatment, and healthcare services, regardless of healthcare sector.
The development of a National Rare Disease Policy would quantify the disease burden, define the standards of care, address capacity amongst healthcare professionals, and ensure that there is appropriate diagnosis and monitoring.
Aiming to optimise patient outcomes, the RDAI symposium held virtually in 2021 yielded six key strategic priorities, including timely diagnosis, equitable treatment access, comprehensive data management, coordinated care, accessible services and collaborative research.
A subsequent RDAI symposium held in October 2022 sustained the dialogue on these priorities, focusing on actionable solutions. Moving forward, the RDAI remains dedicated to addressing the difficulties faced by RD patients, seeks to secure RD’s inclusion within the National Health Insurance Framework and advocates for universal health coverage for those affected by RD.
Read the full article below.