Finding a Way Through Rare Disease
Rare diseases are described as “rare” in theory; in reality, they are lived daily, repeatedly and often in isolation. For many, this translates into healthcare fragmentation; long diagnostic journeys, unclear referrals, repeated explanations, unclear results and the exhaustion of navigating a health system that was never designed with a rare disease patient in mind.
The challenge is not only the rarity of the condition itself, but the absence of a visible, reliable route through care. You may know something is wrong, but not where to go next. You may receive a diagnosis, but not what it unlocks, or whether it unlocks anything at all. You may transition between public and private care, between provinces or between childhood and adulthood without a shared plan that travels with you.
This is why care pathways matter. It’s not for a protocol or checklist but for a shared understanding of what living with a rare disease entails. A shared understanding of what should happen, when it should happen and why it should happen, across disciplines, across life stages, and across very different health care settings. For rare diseases, where uncertainty is the only certainty, a pathway offers a map of how care is meant to connect.
The Cost of Not Having a Pathway
I often meet patients at points of transition, after years of unanswered questions or when a name has finally been given to their experiences. The question that follows is almost always the same: Where do I go from here? What happens next? Without a pathway, a diagnosis is a destination, handed over without a map.
South Africa is a low to middle-income country, where this gap is magnified by structural realities, overstretched public services, uneven access to specialists, limited genetic services and the absence of nationally standardized rare disease frameworks. By default, patients and families become the coordinators of their own care, relaying information among their clinicians, advocating for referrals and making life-changing decisions without adequate support.
From the patient side, it’s scary and overwhelming. From the system side, it contributes to inefficiencies and from an equity perspective, it entrenches disparities. The people who then cope best are those with resources, time, health literacy and proximity to centres of care.
What a Care Pathway Does
A rare disease care pathway does not promise that every service will be available everywhere, instead it distinguishes between:
Essential elements of care that should be available in all contexts
Recommended practices that can be built as capacity grows
Gold standard care that provides a long-term vision
Importantly, it recognizes that care is not only medical. Psychosocial support, information provided at the right time, coordinated transitions (such as pediatric to adult) and clarity about roles all form path of the pathway, not as add-ons but as core components of quality care. A care pathway doesn’t remove uncertainty but it can reduce the burden (and chaos) of coordination that falls on patients and families.
We’re already accustomed to working across public-private boundaries, adapting guidelines to resource-constrained settings and prioritizing what is essential rather than what is ideal. A pathway designed with adaptability in mind can prevent rare diseases from being siloed as “too complex” but instead offer a structured way to integrate rare disease care into existing systems, rather than treating it as an exception that sits outside the system.
The Ambition of the Rare Diseases Care Pathway Framework
The current work led by Rare Diseases International in collaboration with The Rare Care Centre, Western Australia and The Wilhelm Foundation on a global, adaptable care pathway framework aims not to produce a single prescriptive model, but a framework that can be transposed across countries, healthcare systems and resource levels, while keeping people living with rare diseases at the centre.
The working group brings together patients, advocates, clinicians, genetic counsellors, researchers and policymakers from different countries and contexts, including representation from Africa and other under-represented settings. Some members participate not only as professionals but also as individuals living with rare diseases or as family members, blurring the artificial distinction between “expert” and “patient”. Care pathways formalise the intersection of clinical care, interpretation, communication and advocacy. They make visible the work of coordination, expectation-setting and psychosocial support that often goes unnoticed.
Beyond Rare Diseases
Part of the ambition of a rare disease care pathway is its transferability. Designed for complexity, uncertainty and low prevalence, it produces principles such as clear referral routes, defined roles, coordinated transitions and psychosocial support that strengthen healthcare beyond rare diseases, from chronic conditions to disability and mental health care. Rare Disease Awareness Month is often a time for visibility, for stories, statistics and calls for recognition. Yet living with a rare disease is more than you can imagine: more than a diagnosis, more than a moment and more than a single clinical encounter. Care pathways respond to this reality by addressing care as a journey and not an event.
