The plight of rare diseases in Southern Africa: health and social services policy recommendations

Abstract

Rare diseases impact approximately 300 million people globally, yet they receive minimal attention compared to infectious and non-communicable diseases. There are over 10,000 known rare diseases, most of which being hereditary and primarily affecting children. In sub-Saharan Africa (SSA), weak public health infrastructure exacerbates the challenges of diagnosis, management, and treatment of rare diseases. Further, the absence of a definition of rare diseases in the region and the lack of and/or unclear policy frameworks to manage the conditions further slow down the progress toward realization of universal healthcare and the Sustainable Development Goals. We propose harmonized policy recommendations for tackling rare diseases across the Southern African Development Community (SADC). These include establishing a common definition, centralizing healthcare services, promoting preventive measures, enhancing collaborative research and building healthcare workers’ capacity. We also recommend the adoption of shared cost models and specialized health insurance to ensure access to necessary services for those living with rare diseases. This is a starting point to discuss policy issues on healthcare and social services necessary for improving the quality of life of people living with rare diseases (PLRDs) in SSA. Harmonization will also promote effective utilization of resources for both research and care of rare diseases.