Approximately 4,2 million South Africans are affected by one of the 7,000 identified rare diseases – a condition affecting 1 in 2 000 in a population – most of which have a genetic basis. About one in every 15 South Africans are affected, of whom 50% to 70% are children.

Less than 10% of RD have a treatment approved by the US Food and Drug Administration, and the limited treatments for some have mixed results.

The Rare Diseases Access Initiative was formed in 2019 to address these unique challenges to promote a more accessible healthcare environment for those impacted in South Africa. Various stakeholders are involved, from researchers to healthcare funders to the pharmaceutical industry.

The Division of Molecular Biology and Human Genetics at Stellenbosch University aims to achieve timely and accurate diagnoses of rare diseases. They run the Undiagnosed Disease Programme of South Africa (UDPSA) as part of their rare disease genomics research. Under the leadership of Prof. Shahida Moosa, it has enrolled 800 families into the program from across South Africa.

The value of a diagnosis cannot be underestimated, even in the absence of an effective treatment. A diagnosis explains, validates an individual’s symptomology, informs prognosis and management, and can restore reproductive confidence for parents of a child with a rare disease.

Rare Diseases South Africa has a dedicated page for doctors’ registrations from where help and advice is available.