The Rare Disease Summit, held every two years, is a critical event for the rare disease community.

This year’s summit, coordinated by Rare Voices Australia, brought together over 200 stakeholders from across government, industry, healthcare, and patient advocacy groups with the theme’ Progress Beyond Policy’ while maintaining a person-centred approach. Over two days, participants shared insights, strengthened existing partnerships, and built new connections to advance the National Strategic Action Plan for Rare Diseases (Action Plan). 

The summit provided a diverse array of presentations, panel discussions and interactive workshops aimed at showcasing the progress currently being made with the Action Plan and addressing the challenges and most pressing issues for the rare disease patients and their communities.

There were a number of engaging and insightful panel discussions across the summit, which included stakeholders from all stakeholder groups. The first discussed the importance of achieving progress with the Action Plan. It was followed by four Patient Advocacy Group presentations showcasing the progress made since the Action Plans launch in February 2020.

These included presentations from our CEO, Danielle Boyle, on ITP Australia and New Zealand’s experience navigating the Medicines Repurposing Program earlier in the year.

Other presentations included Wendy Bruce, Executive Director of Fragile X Association of Australia, Kerren Hosking, Chief Executive Officer of Sanfilippo Children’s Foundation and Sue Hutley, Chair of Connective Tissue Disorders Network Australia.

Other Panel discussions included Health Technology Assessment (HTA) and Impacts of Rare Disease, a Holistic Look at Rare Disease, Centre’s of Expertise, including a look into the Rare Care Centre in Perth, Western Australia and the Role of Research in improving Rare Disease Care.

During the various Workshop Sessions, there were robust discussions across the various Action Plan themes, which had participants discuss and provide examples and solutions to help implement the Action Plan and improve the lives of the estimated 2 million people living with rare or undiagnosed diseases in Australia.

As mentioned, our CEO, Danielle, presented the barriers and challenges faced when submitting an application to the Medicines Repurposing Program (Action 4.2.3.3) earlier this year.

These barriers included limited clinical evidence and small patient populations hindering approval processes, working with sponsors for repurposing applications and ensuring that the applications are financially viable for them, and the lack of utilising lived experience.

Danielle highlighted the need for systemic change, including formal guidance from the Department of Health and Aged Care and integrating patient narratives into evidence criteria.

Moving Forward

The Rare Disease Summit was a powerful reminder of the strength of collective effort. With over 200 stakeholders collaborating, the event offered a unique opportunity to build new connections and foster existing ones. Attendees left with a renewed sense of purpose, equipped with new tools and strategies to create a brighter future for those living with rare diseases.

Through panel discussions, workshops, and impactful presentations like that of ITP Australia and New Zealand, the summit highlighted the progress we can achieve when we come together as a community. As we look ahead, this collaborative momentum will undoubtedly lead to improved outcomes for all rare disease patients.

Image Source: Rare Voices Australia