Hi RVA Supporter,

Throughout 2025, Rare Voices Australia (RVA) has been highlighting the importance of parliamentarians gaining a better understanding and awareness of rare diseases in the lead-up to the Federal Election. With the election result now decided, RVA will continue our commitment to multipartisan advocacy on behalf of Australians living with a rare disease. Pleasingly, many rare disease political champions will continue representing their constituents in the 48th Parliament. RVA is also encouraged by the innovative, person-centred approach and appointment of the Hon Mark Butler MP as both the Minister for Health and Ageing and the Minister for Disability and the National Disability Insurance Scheme (NDIS). RVA has continued reiterating that the arbitrary line often drawn between health and disability is challenging for Australians living with a rare disease. RVA will also seek to reestablish the Parliamentary Friends of Australians Living with Rare Diseases as soon as possible (all Parliamentary Friendship Groups need to be reestablished).

World Health Assembly Resolution on Rare Diseases Adopted

On 24 May, the World Health Assembly Resolution on Rare Diseases (the WHA Resolution) was adopted. Congratulations to Rare Diseases International (RDI) for leading this important work alongside members of its Coalition, which includes RVA. The adoption of the WHA Resolution cements rare diseases as a priority on the global health agenda. RVA looks forward to helping to translate the WHA Resolution into action, including by participating in the collaborative development of a Global Action Plan. Read RDI's full WHA Resolution statement on their website.

Announcing Our New Rare Voices Australia Ambassadors

We are excited to announce our ambassadors for the 2025-27 RVA Ambassador Program (the Ambassador Program). The Ambassador Program provides people living with a rare disease and those with professional experience of working with rare diseases with the opportunity to share their experiences with the broader rare disease sector. We congratulate our new ambassadors:

• Natasha Ball

• Diane Cass

• Archie Dowell

• Lucy Evans

• Lauren Geatches

• Ryan Zilioli

RVA is also excited to welcome back Andrew Bannister as an honorary ambassador in recognition of his efforts co-ordinating the annual Rare Disease Day illuminations and other rare disease advocacy work. You can learn more about our new ambassadors on RVA’s website. Thank you to everyone who lodged an expression of interest. We received several strong applications and look forward to continuing to see the Ambassador Program grow and evolve.

Rare Disease Disability Project Update

The 2-year Rare Disease Disability Project (the Project) is well underway. RVA is proudly delivering projects for the Peer Support and Capacity Building grant for the NDIS. We are working on a dedicated web page for the Project that will be housed on RVA’s website to provide stakeholders with updates.

Earlier this month, RVA facilitated the first rare disease disability virtual kitchen table sessions for members of the general public living with rare disease disability and those caring for people living with rare disease disability. Meanwhile, the Stakeholder Reference Group (SRG) has been established and met for the first time this week, while the second Rare Disease Disability Network (RDDN) meeting took place yesterday. The SRG comprises individuals with lived experience of rare disease disability and includes diverse representation from priority populations. The RDDN is an RVA-led peer support and capacity building network of RVA Partner group/organisation leaders and other invited sector stakeholders. The SRG, the RDDN and the virtual kitchen table sessions will help to inform the Project. Additionally, RVA will share more information about the first round of RVA Partner Project Grants shortly.

Health Technology Assessment Review Findings and Recommendations

As many of you are aware, I am a consumer representative on the Health Technology Assessment (HTA) Implementation Advisory Group (IAG). The IAG is helping to guide critical reforms in response to the findings and recommendations of the HTA Review Report. We are meeting fortnightly virtually and monthly in-person – you can download the Communiques and read other IAG-related updates on the Department of Health and Aged Care’s website. The consumer input gathered through the HTA Policy and Methods Review, the Enhanced Consumer Engagement Process, The New Frontier - Delivering better health for all Australians report and Conversations for Change continues to contribute and inform the work of the IAG.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Janna's story highlights the importance of diagnosis and the uncertainty of disease progression. She also shares her thoughts on healthcare system navigation based on her lived experience.

The World Health Assembly Resolution on Rare Diseases (the WHA Resolution) was adopted at the 78th WHA on 24 May 2025. The adoption marks an important milestone in the global effort to improve the lives of the over 300 million people living with a rare disease worldwide. Importantly, it cements rare diseases as a priority on the global health agenda and recognises the unique challenges and inequities faced by people living with a rare disease worldwide. The next step is to translate the WHA Resolution into action, including through the collaborative development of a Global Action Plan. Congratulations to Rare Diseases International (RDI) for leading this important work alongside members of its Coalition, which includes RVA. Read RDI's full WHA Resolution statement on their website. 

Chronic or unmanaged pain is a significant issue for people living with a rare disease. Chronic Pain Australia (CPA) is dedicated to supporting and advocating on behalf of people with chronic pain. CPA is conducting the 2025 National Pain Survey to give people living with chronic pain the chance to be heard. By participating in the survey, you can help influence pain care policy across Australia, improve access to healthcare, and help reduce stigma and isolation. The survey takes around 15 minutes to complete. Learn more about the survey and participate via this web page.

University of Sydney researchers are conducting a research study to understand the preferences that patients, their families/carers and the general public have for different aspects of high-upfront cost gene therapies. If you are an adult with haemophilia A and B (Factor VIII or Factor IX deficiency), beta thalassemia or sickle cell disease and/or an immediate family member/carer, the research team invites you to participate in a survey, which should take around 15-20 minutes. To participate and for more information, visit this web page. This study may help to develop tools to support funding decision-making for therapies by national committees, including the Pharmaceutical Benefits Advisory Committee (PBAC) and the Medical Services Advisory Committee (MSAC).  

Nature has published The Australian LINEAGE Study: advancing and implementing international guidance on genomic data within local governance frameworks. The article provides context about the LINEAGE study, which aims to develop an empirically informed and robust governance framework for the generation and sharing of genomic data in Australia. This research study aligns with Action 3.1.3, ‘Improve rare disease data collection and use, including best-practice safe storage, data sharing, custodianship, analysis, reporting, and privacy requirements’, of the Australian Government’s National Strategic Action Plan for Rare Diseases. The LINEAGE study is led by Professor Ainsley Newson from the University of Sydney and is one of RVA’s research partnerships. RVA provided rare disease policy and consumer advice, participated in expert stakeholder interviews and workshops, and is committed to helping to shape the LINEAGE study’s recommendations. 

RARE Portal

Australia's Growing National Resource for Rare Diseases

The Rare Awareness Rare Education (RARE) Portal is a living website in ongoing development, with new information added regularly. The RARE Portal contains verified rare disease information and resources, customised for the Australian context. Funded by the Australian Government, the RARE Portal is a key deliverable of the National Strategic Action Plan for Rare Diseases. RVA distributes two dedicated RARE Portal newsletters each year. Sign up to receive updates by completing this form.

Multi-Stakeholder Consultation Process

The RARE Portal consultation process is ongoing and will include individual interviews with RVA Partner groups/organisations throughout 2025.

New Additions to the RARE Portal

Rare disease pages:

• Danon disease
• 17q12 microdeletion syndrome
• 47,XYY syndrome

The RARE Helpline provides service navigation support for rare and complex diseases. It aims to provide timely access to information and answer key questions people living with a rare and complex disease often face.

Contact Information and Hours

Phone: 0499 549 629
Hours: Monday to Friday 9am – 5pm (AEST)

Note: In the event of an emergency, call an ambulance on 000 or these support lines:

• Suicide Call Back Service – 1300 659 467

• Lifeline 24-hour counselling – 13 11 14

• 13Yarn - 13 92 76