Policy fractures in rare disease leave patients cycling through hope, exhaustion and debt

Australian patients living with rare diseases are increasingly demanding ‘access to the best treatments and cures, including clinical trials’ in a system where availability and affordability are increasingly diverging.

Rare diseases, while individually uncommon, collectively represent a significant burden across the health system. Current estimates suggest approximately 8% of Australians are living with a rare disease.

Against that backdrop, patient advocacy is becoming more direct, more personal, and increasingly difficult for policymakers to ignore.

Sarah McGoram OAM, patient advocate and President of the Patient Voice Initiative (PVI), has described the lived reality behind those statistics as a cycle of stability followed by financial and clinical shock.

After more than a decade of disease control on a therapy that had kept her alive, she recently reached a point where that treatment stopped working. For patients with gastrointestinal stromal tumours (GIST), there is no cure, only sequential therapies that can hold the disease at bay until resistance inevitably develops.

A new treatment, Qinlock (ripretinib), has now been introduced into her care pathway. This is a drug that carries a stark duality where on one hand, it is publicly subsidised through the Pharmaceutical Benefits Scheme (PBS), reducing its cost from an extraordinary $16,304 per month to just $25 per script; on the other, it marks the exhaustion of the funded treatment sequence for McGoram.

That transition is where the system fractures. Once PBS-funded options are exhausted, patients are pushed into a patchwork of alternatives including compassionate access schemes, clinical trials, private prescriptions, crowdfunding, or waiting for future listings while disease progression continues. Patients within the GIST community are currently being treated with one of nine different drugs, yet only three are funded through the PBS. The gap, McGoram argues, defines who gets affordable access and who enters repeated cycles of financial toxicity and clinical uncertainty.

In parallel, Australia’s rare disease policy framework continues to evolve on paper but struggle in execution. In 2020, the government launched the National Strategic Action Plan for Rare Diseases, setting out an ambition for coordinated national reform across diagnosis, research, and treatment access. However, stakeholders argue that implementation has lagged, particularly in translating strategy into funded change.

A new research paper has identified and prioritised ten key unmet research themes in rare disease care in Australia, including ‘access to the best treatments and cures, including clinical trials’ as the top priority.

Despite scientific momentum, patients continue to describe what is often called the “diagnostic odyssey” where around one-third of patients wait more than five years for a diagnosis, and nearly half receive at least one incorrect diagnosis. Even after diagnosis, fewer than one quarter are informed of relevant clinical trials, highlighting a persistent breakdown in real-world patient access.

Emerging health technologies are increasingly central to the discussion. One healthcare professional captured the urgency in asking: “How can we develop therapies that not only manage symptoms but also target the underlying causes of rare diseases? What are the potential roles of gene therapy, CRISPR, or other emerging technologies in treating rare diseases?”

“As many rare diseases are progressive, timely and equitable access to reimbursed treatments is critical. In Australia (and globally), there is a need for streamlined, fit for purpose health technology assessment processes to ensure equitable and timely access to safe and effective treatments for rare disease,” said the authors.

However, the policy pipeline continues to encounter political friction. The pharmaceuticals sector, patient advocacy groups and clinicians who spent four years engaged in the Health Technology Assessment (HTA) Review process have faced disappointment following the recent Federal Budget, which delivered no clear implementation funding signal. Instead, the Federal Health Minister Mark Butler has made clear that the reforms will be deferred to the forthcoming Strategic Agreement negotiations between Medicines Australia and the government, effectively sidelining direct input from patients and clinicians.

The result is a health system caught between scientific possibility and financial constraint, where access to lifesaving therapies depend heavily on postcode, timing, and the limits of public reimbursement.

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