Shining a light on rare diseases in Tasmania

Published on
29 February 2024

As we observe Rare Diseases Day on 29 February 2024, we aim to shed light on the critical work being supported by our Foundation's donors to address the challenges faced by individuals with rare diseases in Tasmania.

Thanks to generous community support, local geneticist, Dr. Mathew Wallis, spearheaded an important study that sheds light on the prevalence and consequential impact of rare diseases within the state by analysing over a million hospital admissions records and emergency department presentations. By employing specific codes to identify individuals with rare diseases, his findings have indicated a prevalence of approximately 3.2% in the Tasmanian population based on hospital admissions. In 2017 alone, those with rare diseases represented 1.5% of the population but astonishingly accounted for 10% of hospital activity, underscoring the disproportionate healthcare demands this group places on Tasmania's healthcare system.

A disease is considered rare in Australia if it affects fewer than 5 in 10,000 individuals. Despite their rarity, these conditions—including childhood cancers, cystic fibrosis, and Huntington's disease—pose significant challenges due to their life-threatening or chronically debilitating nature. Based on Australian Health Department data, Australia is home to over 2 million individuals living with a rare disease, constituting about 8% of the population. The complexity and genetic origins of these diseases often result in delayed diagnoses and a scarcity of treatment options, contributing to the burden on patients and healthcare systems alike.

The significance of this study extends beyond its immediate findings; it highlights the urgent need for a comprehensive understanding of rare diseases and their impact on healthcare systems. The journey of individuals living with rare diseases is fraught with obstacles, from achieving an accurate diagnosis to accessing effective treatments and care. With fewer than 5% of rare diseases having an effective treatment, the quest for improved quality of life and extended life expectancy for these patients is paramount.

This research contributes valuable insights into the specific context of Tasmania and underscores the global challenge of addressing rare diseases. It serves as a call to action for healthcare professionals, researchers, and policymakers to collaborate in enhancing the identification, treatment, and management of rare diseases, improving outcomes for this vulnerable segment of the population.

You can help support life changing medical research like this pioneering study by Dr Matthew Wallis that helps improve the lives of Tasmanian’s by donating to the Foundation online, or by calling our friendly team on (03) 6166 1319. Together, we can help create a brighter future for those affected by rare diseases.