Two million Australians are living with a rare disease, yet diagnosis can take five-to-seven years. Across APAC, fragmented systems, limited awareness, and uneven access to therapies create both challenges and opportunities for pharma, biotech, and medtech innovators. This Rare Disease Day, it’s time to move from awareness to action, shortening diagnostic journeys, improving access, and ensuring innovation translates into real-world impact.

Rare Disease Day, observed every year on 28 February (or 29 in leap years) – the rarest day of the year – is an important reminder that the challenges faced by people living with rare diseases extend far beyond a single awareness day. Rare diseases are among the most dynamic frontiers in precision medicine – and among the most complex in terms of policy, reimbursement, and access.

This Rare Disease Day, the conversation must move from awareness to action: shortening diagnostic journeys, accelerating equitable access, and ensuring that innovation translates into measurable, real-world impact. For innovators, this means not only developing breakthrough therapies but also engaging strategically with patients, clinicians, payers, and policymakers to ensure that innovation reaches those who need it most.

At VIVA! Communications, we have championed a broad spectrum of rare diseases, including genetic conditions such as Progeria, blood disorders like Paroxysmal Nocturnal Haemoglobinuria (PNH) and atypical Haemolytic Uremic Syndrome (aHUS), and metabolic diseases such as Gaucher and Pompe disease. Over the past 24 years, we have worked closely with patient communities, clinicians, and industry stakeholders to accelerate awareness, support early diagnosis, and improve access to therapies. These experiences demonstrate how integrated healthcare communications can deliver tangible impact for both patients and the broader health system.

Strategic communications plays a critical role in turning awareness into action. By supporting early recognition, improving diagnostic efficiency, shaping policy and access pathways, and strengthening patient-centred care, communications helps ensure that innovation translates into measurable outcomes for patients, clinicians, and the health system alike.

RARE DISEASE IN AUSTRALIA: A SYSTEM-LEVEL CHALLENGE

In Australia, a disease is considered rare if it affects fewer than five in 10,000 people. While individually uncommon, more than 7,000 rare diseases have been identified worldwide. Collectively, they affect around 8 per cent of Australians (two million people) – comparable to the prevalence of diabetes or asthma.

Yet, rare diseases remain under-recognised across the healthcare system for the following systemic reasons:

1.     Limited research investment across thousands of different diseases;

2.     Low clinical recognition and fragmented diagnostic delays;

3.     Delayed access to innovative therapies; and

4.     Variability in care models across geography and socio-economic groups.

For industry leaders, this fragmentation creates both risk and opportunity. Innovation is accelerating, particularly in genomics, cell and gene therapies, and precision diagnostics, yet health system structures, funding frameworks, and diagnostic pathways have not evolved at the same pace.

Furthermore, the broader societal costs of rare disease – including lost productivity, financial strain, and inequitable access – are becoming increasingly central to value narratives, particularly as ESG, health equity, and system sustainability face growing scrutiny across Australia and the Asia Pacific.

This year’s Rare Disease Day theme, ‘More Than You Can Imagine’, calls on the community to look beyond the ‘rare’ label and shift perceptions in order to fully comprehend the complex realities faced by those living with rare diseases. Awareness days create an important focal point for advocacy and global unity, but their true value depends on catalysing year-round action.

Achieving meaningful change requires person-centred care, equitable access, and long-term research that identifies the distinguishing signs of a rare diseases and informs policy and reimbursement decisions.

THE DIAGNOSTIC JOURNEY: WHERE THE SYSTEM FALLS SHORT

1.     Significant diagnostic delays

• Rare diseases are collectively complex, with more than 7,000 distinct conditions. Many present with non-specific symptoms that mimic more common illnesses.
• The average time to an accurate diagnosis is five-to-seven years.
• Many patients experience multiple misdiagnoses, unnecessary tests, and avoidable procedures.
• In Australia, 38 per cent of children with a rare disease see more than six doctors before receiving a diagnosis, and up to 40 per cent of their families report their diagnosis was delayed, incorrect, or never made.

For innovators developing targeted therapies, diagnostic delay directly affects:

• Time to treatment;
• Clinical trial recruitment;
• Real-world evidence generation;
• Health economic modelling;
• Market uptake post-reimbursement.

Earlier recognition is, therefore, not only a clinical imperative – it is foundational to sustainable access.

2.     LIMITED TREATMENT OPTIONS & CHALLENGING ACCESS PATHWAYS

Innovation is moving faster than reimbursement. Fewer than 5-10 per cent of known rare diseases have an approved treatment in any jurisdiction, and Australian patients often face longer reimbursement timelines compared to other markets. Funding mechanisms, such as the Pharmaceutical Benefits Scheme (PBS) – designed decades ago – are increasingly tested by:

• Ultra-orphan indications;
• Small patient populations;
• High upfront therapy costs;
• Limited long-term data at submission; and
• Rapid advances in genomics and precision medicine.

Health Technology Assessment (HTA) processes are designed to balance affordability with equitable access. However, in rare diseases, traditional cost-effectiveness models often fail to fully reflect the broader societal, family, and productivity impacts.

Across APAC, access pathways also vary considerably. Some markets have established orphan drug frameworks, while others remain fragmented. For companies operating regionally, aligning evidence generation, policy engagement, and communications strategies across jurisdictions is becoming increasingly critical.

3.     THE BROADER HUMAN IMPACT

Beyond clinical outcomes, rare diseases create profound social and economic challenges:

• Social isolation due to low awareness and limited peer support
• Significant out-of-pocket costs and travel burden
• Reduced workforce participation for both patients and carers
• Long-term educational and economic impacts

For industry leaders, these societal costs are increasingly central to value discussions, particularly as ESG, equity, and health system sustainability receive growing scrutiny.

FROM AWARENESS TO ACCESS: THE ROLE OF STRATEGIC HEALTHCARE COMMUNICATIONS

Rare Voices Australia has identified six priorities to guide the national response: diagnosis, treatment access, data collection, coordinated care, service access, and research. The focus now is on execution, with coordinated engagement across governments, regulators, payers, and patient groups to ensure policies keep pace with innovation.

Strategic healthcare communications can support this by:

1. Shaping access & policy environments: Translating evidence for policymakers and HTA bodies, articulating unmet need, and building coalitions for sustainable funding frameworks.

2. Strengthening support networks: Amplifying patient voices, promoting peer support, and reducing isolation.

3. Promoting patient-centred and coordinated care: Highlighting inequities, advocating multidisciplinary models, and connecting local and digital peer networks.

When done well, communications builds trust, improves system navigation, and supports long-term uptake of therapies.

HOW CAN EQUITABLE CARE BE ACHIEVED FOR AUSTRALIANS LIVING WITH A RARE DISEASE?

Rare but rarely recognised must no longer be Australia’s reality.

Achieving equitable care for Australians living with a rare disease requires a nationally coordinated strategy that delivers:

• An equitable, accessible, transparent and timely system;
• Cross-sector collaboration spanning patients, clinicians, researchers, government and industry;
• Policy settings that meaningfully improve patient outcomes; and
• Sustainable funding mechanisms that recognise the unique challenges of rare conditions.

The Australian Government plays a pivotal role through national coordination and funding mechanisms such as the Pharmaceutical Benefits Scheme (PBS). But innovation in genomics, precision medicine, and advanced therapeutics is accelerating faster than legacy systems were designed to accommodate.

Awareness is only the first step. Real progress for the two million Australians living with a rare disease comes from embedding action into the system every day.

As Helen Clark of the United Nations Development Programme said, “No country can claim to have achieved universal healthcare if it has not adequately and equitably met the needs of those with rare diseases.”

For industry leaders, the question is not whether rare disease should be prioritised, but how to align innovation, policy engagement, and stakeholder communications to shorten diagnostic pathways, and accelerate sustainable access.

Rare but rarely recognised must no longer be Australia’s reality.

If you work in rare diseases across pharma, biotech, or medtech in Australia or APAC, we invite your perspective on moving from awareness to measurable system change – comment below.