A report from the McKell Institute has revealed an urgent need for a dedicated rare disease strategy in NSW, highlighting that more than 600,000 people with a rare disease are currently navigating fragmented and inconsistent care in NSW.

The landmark report, A Rare Kind of Care, examines the current landscape of rare disease policy in Australia, identifying gaps and providing recommendations aimed at ensuring all Australians living with a rare disease experience health equity.

Leading rare disease expert, Professor Adam Jaffe, who was on the report’s Expert Advisory Group and a panellist on the Rare Conversations Forum where it was launched commented.

“People living with a rare disease are being left behind and forgotten.”

“This report highlights the challenges that people living with a rare disease experience, raising awareness, and identifying the gaps and opportunities to improve their health outcomes,” Professor Jaffe said.

The report explains that the concept of a rare disease is misleading because, although each condition is individually rare, collectively, there are more than 8,000 rare diseases affecting nearly 2 million Australians.

With rapidly advancing medical technologies, those with a rare disease will have more opportunity in getting a diagnosis and finding a new individualised therapy. Currently, access to specialist health care tailored for those with a rare disease is inconsistent, as it’s primarily influenced by the person’s location, age and disease awareness.

“The health system must keep up,” Professor Jaffe said.

“It is critically important in this age of technological advancement that we must not forget to provide equitable and culturally safe wraparound care to our patients and their families.”

The Sydney Children’s Hospitals Network cares for over 2,000 children living with a rare disease every year and has delivered world-leading diagnostics and therapies for these children. 

With rapid advances in genetic screening technology and the emergence of novel personalised therapies, effective health care for those with rare diseases is becoming more of a reality. These developments underline the urgent need to prioritise and strengthen rare disease care in NSW.

The NSW Health Minister the Honourable Ryan Park launched this report at the forum and committed to developing a NSW Rare Disease Strategy to address these challenges.

“This is a very exciting and an important outcome,” Professor Jaffe commented.

“I believe that NSW should be the geographic leaders in delivering rare disease healthcare.”

“This will benefit not only those living with a rare disease in NSW and Australia, but also our expertise will extend to helping those 300 million people living with a rare disease around the world.”

The report by the McKell Institute was formally launched last December and lists eight recommendations, one being that Australian states and territories to develop their own Rare Disease Strategies.

Professor Adam Jaffe is a Respiratory Consultant and Co-Head of Respiratory Medicine at the Sydney Children’s Hospital, Randwick, and John Beveridge Professor of Paediatrics at the UNSW Sydney. He also is Chair of Rare Diseases NSW, an upcoming comprehensive centre of expertise aimed at transforming rare disease care in NSW.