Every year on 17 April, World Haemophilia Day is observed to raise awareness for the rare blood disease. And this year, Rare Diseases South Africa (RDSA) is calling on all South Africans to use this day for more than a symbolic show of support.
According to Kelly du Plessis, founder and CEO of RDSA, “For families living with a rare disease such as haemophilia, this day is not a ‘nice- to- have’ 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 awareness 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.
Rare diseases are individually rare, but collectively they affect millions of people worldwide and thousands of families in South Africa. 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. The same report estimates that 4.8% of South Africans – approximately 3 million people – are living with a rare disease.
Diagnostic journeys are often long and complex. Research shows that the ‘diagnostic odyssey’ takes an average of >5 years for an accurate diagnosis. These delays are worsened in resource-constrained settings. In South Africa, challenges are compounded by limited diagnostic capacity, uneven access to specialised care, and fragmented funding pathways.
Why awareness matters in rare diseases
“Awareness is not symbolic – it is a practical intervention. 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. Research on the African burden show that rare diseases account for 35% of first- year fatalities, and 30% of children with rare disease will not survive to live an additional five years.
Days like World Haemophilia Day also creates the visibility needed to move rare diseases higher on the health agenda. The study on South African burden revealed the country currently has “no nationally co-ordinated surveillance”. Visibility is therefore essential for policy prioritisation.
The role of patient organisations
Research shows that behind every rare disease statistic is a family trying to cope with complexity. “As Novartis South Africa, we believe that 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 co-ordination and access challenges. Their work ensures patients and families do not have to navigate rare disease alone.”
Basson notes: “PAGs play an essential and transformative role in the South African healthcare landscape, especially for those affected by rare diseases. These organisations offer critical guidance and advocacy, deliver accurate and accessible disease information, and foster a strong sense of community.
“By providing these resources, PAGs empower patients and their families to navigate complex healthcare systems more effectively, advocate for their rights and connect with others facing similar challenges. This comprehensive support not only helps patients move from confusion to clarity during diagnosis and treatment but also ensures no family has to face the journey of rare disease alone,” concludes Basson.
Take action
RDSA urges employers, schools and communities to go beyond simply raising awareness. “Let’s transform visibility into meaningful, measurable action and work together to drive real change and improve outcomes for all those affected by rare diseases in South Africa,” urges Du Plessis.
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.
Image credit: Freepik
