For families living with a rare disease, Rare Disease 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, in a consultation room, in a referral pathway, or inside a funding decision, says the NPO.

"Rare Disease Day matters because awareness leads to action," says Kelly du Plessis, Founder and CEO of Rare Diseases South Africa. "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."

Indivually Rare, Collectively Common

Rare diseases are individually rare, but collectively they affect millions of people worldwide and thousands of families in South Africa. There are thousands of rare conditions, many of them serious, progressive and life-limiting. The reality for many families is a long diagnostic journey that can involve years of uncertainty, misdiagnosis and specialist delays, says the NPO.

In South Africa, those challenges are often compounded by limited access to specialised care, uneven diagnostic availability and complex funding environments.

"When a patient finally receives a diagnosis, it should be the beginning of a clearer path," says du Plessis. "But for many families, that's when the next set of barriers begins. Suddenly you're navigating medical scheme rules, pre-authorisations, benefit limits, travel logistics and trying to coordinate care in a system that isn't designed for uncommon conditions."

Why Awareness Matters in Rare Disease

RDSA stresses that awareness is not a feel-good exercise, it is a practical tool that can improve outcomes.

In rare disease, earlier recognition can reduce unnecessary procedures, prevent complications and improve quality of life. It can also reduce downstream cost to the health system by avoiding years of "diagnostic wandering" and repeated interventions that don't address the underlying condition, adds the NPO.

"Awareness is a patient safety intervention," du Plessis adds. "If Rare Disease Day prompts one clinician to connect the dots sooner, that is a real impact. That is a child who gets help earlier, or an adult who finally gets answers."

Rare Disease Day also creates the visibility needed to move rare disease higher up the health agenda, including better integration into universal health coverage planning, clinical coding, service delivery models and benefit design.

The Role of Patient Organisations

Rare Diseases South Africa works to ensure that patients and families do not have to navigate rare disease alone. The organisation provides guidance, advocacy support, disease information, community connection and patient navigation.

"Behind every rare disease statistic is a family trying to cope with complexity," says du Plessis. "Our work is about helping people move from confusion to clarity. Sometimes that looks like helping a parent understand a diagnosis. Sometimes it's helping a patient approach their medical scheme with the correct documentation. Often it's simply helping someone feel less alone."

RDSA's impact is seen daily through the lived experiences of patients and caregivers who find support, reliable information, peer connection and practical navigation services, says the NPO.

A Call to the Health Sector and the Public

RDSA is inviting clinicians, industry, funders, policymakers, employers, schools and communities to use Rare Disease Day to move from visibility to measurable action.

According to the NPO, four practical actions that can create meaningful impact include:

  • strengthening diagnosis pathways through education, referral networks and access to appropriate testing and interpretation
  • improving care coordination by enabling multidisciplinary approaches and shared-care models suited to South Africa's realities
  • building responsible access solutions that improve continuity of care while supporting equitable and sustainable treatment pathways, and
  • partnering with patient organisations early and helping scale navigation and patient support services that keep families in care.

"Rare Disease Day is not about one day of purple," says du Plessis. "It's about making sure rare disease patients are not invisible for the other 364 days of the year. Awareness is the spark, but action is the point. Families cannot wait for perfect systems. They need progress."

Join Rare Disease Day on 28 February

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, concludes the NPO.

For more information, visit www.rarediseases.co.za. You can also follor RDSA on Facebook, LinkedIn, X, or on Instagram.

*Image courtesy of Facebook