ARCHIVES: SPOTLIGHT: IN DEPTH: What happens to people in South Africa who have rare diseases?
. There are rare diseases affecting the brain, muscular system, metabolism, heart, blood, lungs, kidneys, and other organs and systems.
“If we aren’t able to quantify rare diseases in SA, then cases are going to go undiagnosed, the clinical features aren’t going to be characterised, and the knowledge won’t be appropriately shared,” says Malherbe, who is also the director of research and epidemiology at RDSA.Jean-Mari van zyl-Smit is possibly the first adult woman in South Africa to be diagnosed with Pompe disease.
“There is still low recognition of genetic disorders among specialists. And when they are recognised, testing remains expensive and requires sophisticated levels of training which are relatively limited,” says Professor Karen Fieggen, a medical geneticist at the University of Cape Town. According to 2021 figures from RDSA, there is only one medical geneticist in the national public healthcare system for every 4.5 million people in the country. This falls far short of the recommended 21 per two million people recommended by the WHO.
“It doesn’t help to throw huge resources at something that will have minimal management impact,” she says. “But the way in which rare diseases have been relatively ignored isn’t constructive.” “We were told to take her home, and not to even bother with vaccinations because she only had three months to live,” Jadwat says. “We were ready to give up.”
Access to the drug could, however, also be arranged through a successful section 21 application with SA’s health product regulatory authority, Sahpra. But this would require significant time, effort, and financial resources from the Jadwat family and their clinicians. “In some cases, a lot of buyouts could be purchased rather than the drugs being available across the board,” she says. A drug buyout is the process by which a government hospital buys a product not available on the essential medicines list.
“The aim was to get everyone’s inputs so we can build momentum and eventually seek approval from government for this policy strategy,” says Malherbe.
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