Untangling the Maze: Our Contribution to the latest Aspire4Rare Diagnosis Report
- Rare Diseases SA
- 3 hours ago
- 3 min read
Written by Kelly du Plessis, CEO, Rare Diseases South Africa
For every person living with a rare disease, diagnosis is rarely a single moment. It is a journey, often years long, through misdiagnoses, dead ends, and a healthcare system that was not designed with rare conditions in mind. We call it the diagnostic odyssey, and it is one of the areas where I have spent much of my advocacy career trying to make a difference.
That is why I was honoured to serve on the expert panel for Aspire4Rare Diagnosis: Untangling the Maze, a new global report launched by UCB this week as the next chapter of the Aspire4Rare initiative. The report, "An Archetype Approach to Rare Disease Diagnosis," is a genuinely multi-stakeholder effort, drawing on clinicians, researchers, policymakers, and patient advocates from around the world, including Rare Diseases South Africa.
Why this report matters
The numbers alone tell a difficult story. Around 70% of rare diseases are genetic, and 72% begin in childhood, yet the remaining adults living with late-onset or undiagnosed conditions face a completely different, and often more isolating, set of barriers. Collectively, rare diseases affect an estimated 1 in 17 people worldwide. And the cost of getting diagnosis wrong, or getting it too late, is not only financial. It is measured in unnecessary procedures, psychological harm, and years of a person's life spent fighting to be believed.
Rather than proposing another single-fix policy recommendation, the report takes what it calls an "archetype" approach: breaking the diagnostic odyssey down into seven interconnected categories, from building awareness and referral pathways, to access to technology, the economics of diagnosis, and the standardisation of diagnostic processes across health systems. It sets out six system-wide priorities for the next five years, including embedding rare disease training across the health workforce, expanding access to genetic services, and building interoperable health information systems and registries.
Why I said yes to participate in this report
As I say in the report itself:
"You need to raise awareness of the issue before you can present a solution. Policymakers cannot change problems they are not aware of. The problem needs to be contextualised, quantified, and its impact clearly highlighted, only then can they know what needs to be addressed."
That has been the thread running through all of RDSA's work since 2013: you cannot fix what decision-makers do not see. Contributing to a global framework like this one is a chance to make sure that South African, and broader African, realities are part of that picture, not an afterthought.
The African context
The report includes a dedicated Africa lens, and it is a sobering read. An estimated 50 million people live with a rare disease on the continent, yet African populations remain drastically underrepresented in the genomic research that increasingly underpins diagnosis: people of African ancestry make up only around 2% of participants in genome-wide association studies globally. That gap has real consequences. Genetic variants that are common and harmless in African populations can be misread as disease-causing when the reference data used to interpret them comes almost entirely from European ancestry groups. Initiatives like H3Africa are starting to close that gap, but the report is clear that policymakers, researchers and international funders all have a role to play in building more representative datasets and local research capacity.
This mirrors exactly what we found closer to home. Our own research here in South Africa, published earlier this year, estimated that roughly 3 million South Africans, 4.8% of the population, are living with a rare disease, and that our national congenital disorder registry captures less than 5% of actual cases. The diagnostic odyssey is not an abstract global concept for us. It is the daily reality of the families who call our Rare Patient Helpline.
What comes next
A report like this only matters if it moves from paper into practice. My hope is that it becomes a working tool, for policymakers assessing where South Africa's diagnostic pathways fall short, for clinicians deciding where to focus training, and for our own community in continuing to make the case for a national rare disease policy.
I am proud to have contributed to this work, and prouder still to keep pushing for the day when a rare disease diagnosis in South Africa takes months, not years.
Read the full Aspire4Rare Diagnosis report and the UCB feature on its launch here.
Download the report here.
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