While rare diseases are individually uncommon, they collectively affect an estimated 4.8% of South Africans, nearly 3 million people. Yet diagnosis takes on average more than five years, with limited national surveillance and significant under-reporting of congenital disorders.
Thank you for reading this post, don't forget to subscribe!Saturday, 28 February 2026, marks Rare Disease Day, and this year Rare Diseases South Africa (RDSA) is calling on all South Africans and all healthcare sector stakeholders to use this day for more than a symbolic show of support.
According to Kelly du Plessis, Founder and CEO of Rare Diseases South Africa, “for families living with a rare disease, Rare Disease Day is not a “nicetohave” awareness moment. It is one of the few times each year when rare conditions are visible enough to change what happens next, whether in a consultation room, in a referral pathway, or inside a funding decision. Rare Disease Day matters because awareness leads to action. In the rare disease world, one more question from a healthcare professional, one more referral, one more moment of recognition can change a family’s entire journey.”
Individually rare. Collectively common
As the South African burden study notes, Rare diseases comprise a diverse group of over 6 000 conditions that collectively affect more than 350 million people globally. 1 a The same report estimates that 4.8% of South Africans — approximately 3 million people — are living with a rare disease.
Why awareness matters in rare diseases
“Awareness is not symbolic — it is a practical intervention’. It Awareness also reduces downstream system costs by preventing years of misdiagnosis and repeated interventions that do not address the underlying condition,” says Du Plessis. Earlier recognition can reduce unnecessary procedures, prevent complications, and improve quality of life.
The role of patient organisations
Research shows that behind every rare disease statistic is a family trying to cope with complexity 1 “As Novartis South Africa, we believe that the work done by Patient Advocacy Groups (PAGs) helps patients navigate these complexities,” says Nozuko Basson, Country Head: Communication and Patient Advocacy, Novartis. “Rare Disease South Africa’s work helps families move from confusion to clarity, supporting them through diagnosis, care coordination, and access challenges. Their work ensures that patients and families do not have to navigate rare disease alone.”
Take Action for Rare Disease Day
Four practical actions that can create meaningful impact include:
- Strengthening diagnosis pathways through education, referral networks, and
access to appropriate testing. - Improving care coordination by enabling multidisciplinary and sharedcare models
suited to South Africa’s realities. - Building responsible access solutions that improve continuity of care while
supporting equitable and sustainable treatment pathways. - Partnering early with patient organisations, helping scale navigation and support
services that keep families in care.
South Africans are encouraged to show support by sharing rare disease information, amplifying patient stories, and helping drive conversations that improve recognition and access to care.
