Hi RVA Supporter,

On 2 December 2025, Rare Voices Australia (RVA) facilitated the first-ever Rare Disease Disability Network Showcase (the Showcase) in Brisbane, ahead of the International Day of People with Disability (3 December). This invitation-only event brought together more than 40 leaders from rare disease groups/organisations and other key stakeholders across the sector, including people with lived experience of rare disease disability. 

The Showcase was a key component of the Rare Disease Disability Project (the Project). RVA is proudly delivering projects for the Peer Support and Capacity Building grant for the National Disability Insurance Scheme (NDIS). The Showcase marked the first in-person gathering of the Rare Disease Disability Network, which includes leaders from RVA Partner organisations and other invited stakeholders, who met regularly online throughout the year. We’ve included a selection of Showcase photos below. See more photos and read our Showcase highlights article at RVA’s website.

Thank you to everyone who attended for your participation and engagement. Special thanks to members of the Project’s Stakeholder Reference Group who shared their experiences as part of the opening panel discussion. As I continue to say, RVA understands how challenging, yet powerful, it can be to share stories of living with a rare disease. Additionally, thanks to the diverse range of speakers who generously shared their expertise and perspectives. Thank you to RVA Partners, Tuberous Sclerosis Australia and Mito Foundation, for presenting updates on the Rare Disease Disability Sibling Support Program for Parents and Carers and The Rise Project. Read the latest updates about the RVA Partner Project Grants at RVA’s website.

What struck me most about the Showcase was the energy, excitement and solutions-oriented approach to working towards the best outcomes for Australians living with a rare disease. Nearly all of the estimated 2 million Australians living with a rare disease experience long-term impacts daily – impacts that meet the Australian Government’s definition of a disability. Importantly, the Showcase provided RVA with another opportunity to gain valuable feedback on the first round of resources developed for the nationally codesigned Rare Disease Disability Toolkit. We are incorporating this feedback as an extension of the codesign process and will launch the first set of resources in early 2026, ahead of Rare Disease Day.

Save the Date: Rare Disease Day Federal Parliamentary Event

Speaking of Rare Disease Day, RVA will facilitate our annual Rare Disease Day Federal Parliamentary Event on Monday, 2 March 2026 from 12pm to 1:30pm. The event will be hosted by the Parliamentary Friends of Australians Living with a Rare Disease Co-Chaired by Dr Mike Freelander MP, Member for Macarthur, Senator Wendy Askew, Senator for Tasmania, and Dr Monique Ryan MP, Member for Kooyong. Attendance is by invitation only to ensure appropriate representation across the sector. One representative from each RVA Partner group/organisation will be invited. Invitations and more information will be distributed to those invited in early 2026.

Rare Disease Day is marked on the last day of February annually. It is a globally coordinated movement for rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis for people living with a rare disease. RVA is on the Steering Committee for Rare Disease Day, which focuses on longer term campaign strategy planning. See the official Rare Disease Day website to download the 2026 promotion materials and for the latest updates.

Wishing Everyone a Restful Holiday Break

As this is RVA’s final eNewsletter for 2025, I’d like to acknowledge and thank the RVA Board, our Scientific and Medical Advisory Committee, our RVA Ambassadors, volunteers and staff for your ongoing hard work and support. Special thanks to our RVA Partner groups/organisations for your efforts and continued support of RVA.

Ensuring rare disease policy remains a priority for governments is essential to achieving the best outcomes for Australians living with a rare disease. The rare disease sector continues to gain momentum with key decision and policymakers. I thank all stakeholders for your support of RVA and invaluable contributions as we continue leading the collaborative implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases.

Finally, Merry Christmas to those who celebrate and Happy New Year to everyone! I hope you rest and recharge over the holiday break.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

2026 Rare Disease Day Will Be Marked on Saturday 28 February 

RVA will facilitate our annual Rare Disease Day Federal Parliamentary Event on Monday, 2 March 2026 from 12pm to 1:30pm. The event will be hosted by the Parliamentary Friends of Australians Living with a Rare Disease Co-Chaired by Dr Mike Freelander MP, Member for Macarthur, Senator Wendy Askew, Senator for Tasmania, and Dr Monique Ryan MP, Member for Kooyong. Attendance is by invitation only to ensure appropriate representation across the sector. One representative from each RVA Partner group/organisation will be invited. Invitations and more information will be distributed to those invited in early 2026.

Official 2026 Rare Disease Day Video

Official 2026 Rare Disease Day Posters

Rare Disease Day is marked on the last day of February annually. In 2026, Rare Disease Day falls on Saturday 28 February. Rare Disease Day is the globally coordinated movement for rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis for people living with a rare disease. RVA is on the Steering Committee for Rare Disease Day, which focuses on longer term campaign strategy planning. The 2026 promotion materials and the latest updates are available via the official Rare Disease Day website. 

Globally, 300 million people worldwide live with a rare disease. Locally, Rare Disease Day is an opportunity to raise awareness and inform policymakers about the issues faced by the Australian rare disease community, with the aim to achieve the best outcomes for Australians living with a rare disease.

Rare Awareness Rare Education (RARE) Portal

Australia's Growing National Resource for Rare Diseases

The RARE Portal is a living website in ongoing development, with new information added regularly. It 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.

RARE Portal eNewsletter

Read the December 2025 RARE Portal eNewsletter. You can subscribe to receive upcoming RARE Portal newsletters by completing this form.

Multi-Stakeholder Consultation Process

The RARE Portal consultation process is ongoing and will include individual interviews with RVA Partner organisations in 2026.

All rare disease stakeholders are invited to help maintain the currency and accuracy of information on the RARE Portal. If you would like to contribute content or suggest a revision, please reach out to the RARE Portal team via the Contribute page.

Issue 37 of Research Australia’s INSPIRE magazine includes an article written by RVA’s Research and Evaluation Manager, Dr Falak Helwani. Invisibility Is No Superpower - It’s Time for a Nationally Coordinated Approach to the Collection and Use of Rare Disease Data highlights the importance and gaps evident in rare disease data in Australia. The article also reiterates the need for a nationally coordinated approach to rare disease data that will enable equitable access to care, empower research and ultimately save lives. Visit Research Australia’s website to read the article and Issue 37 of INSPIRE. 

The Genomics of Rare Disease (GRD) Registry, led by Associate Professors Jodie Ingles and Owen Siggs at the Garvan Institute of Medical Research, has been awarded the prestigious 2025 Ramaciotti Biomedical Research Award. RVA’s Chief Executive Officer, Nicole Millis, is on the GRD Registry’s Advisory Committee.  

The GRD Registry is Australia’s first comprehensive national registry for people with a known or suspected rare inherited disease. The new funding will enable the team to increase recruitment, particularly from underserved communities, accelerate diagnostic discovery through advanced genomic technologies, and facilitate connections between patients and researchers nationwide. Learn more at the Garvan Institute of Medical Research’s website. 

The Medical Research Future Fund (MRFF) is a $24.8 billion long-term investment supporting Australian health and medical research. The Research Missions program is one of the four MRFF themes and is made up of the Indigenous Health Research Fund and the Australian Brain Cancer, Cardiovascular Health, Dementia, Ageing and Aged Care, Genomics Health Futures, Million Minds Mental Health Research, Stem Cell Therapies and Traumatic Brain Injury Missions.

The Department of Health, Disability and Ageing is conducting an evaluation of the MRFF Research Missions program (the Evaluation). The Evaluation will be a key piece of evidence informing the government on the future direction of the program and its funding. Participation in this survey will provide valuable insights into the impact and effectiveness of the MRFF Research Missions program. This is your opportunity to help shape the future direction of the program and its funding investments. Have your say on the MRFF Research Missions program by Friday, 27 February 2026.

Genomics Australia was established by the Department of Health, Disability and Ageing in 2025 to provide national leadership and coordination to better integrate genomics into the health system. Launched in early December, Genomics Australia’s website aims to keep the community, clinicians, researchers, and industry partners informed and engaged. The website includes details on the newly established Genomics Australia Advisory Council and information on how to join one of Genomics Australia’s networks. 

The Department of Health, Disability and Ageing has launched an open call as part of the first stage of the newborn bloodspot screening (NBS) decision-making pathway. The first open call is open now and will close on 14 January 2026. The process supports the public to identify conditions that align with the criteria in the NBS National Policy Framework for consideration for NBS. See the Department of Health, Disability and Ageing’s website for more information, including how to participate and how conditions will be considered.

The Sawatzky Cup Returns in 2026

Image credit: Scotty's Media

The Sawatzky Cup tennis tournament is back in 2026! The single-day doubles tennis event (men and women) is named after Perth player and the much-loved Ross Sawatzky, a tennis stalwart who died in early 2020 at 48 from the rare autoimmune disease, hemophagocytic lymphohistiocytosis (HLH). The 2026 Sawatzky Cup tournament will be played on the grass courts of Alexander Park Tennis Club in Western Australia on Saturday, 10 January 2026. All funds raised will be donated to RVA to help with overseeing the collaborative implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases. Visit RVA’s website to make a donation and the official Sawatzky Cup website for the latest news and updates.

RVA thanks Ross’ mate and tournament organiser, Norman Burns, and everyone else who is making the 2026 Sawatzky Cup possible. Learn more about the origins of the Sawatzky Cup on Court Talk, which interviewed Norman recently.

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 (AEDT)

Note: RVA's office, including the RARE Helpline, will be closed for the holiday break from Monday, 22 December 2025 and will reopen on Monday, 12 January 2026. 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

Important Update

From 14 February 2026, the RARE Helpline will cease operating. Ahead of this date, RVA is drawing on the learnings from the RARE Helpline specifically and The Navigator Project more broadly to develop a RARE Help page that will be housed on the RARE Portal and will replace the existing RARE Helpline page. Visit the RARE Helpline web page for more information.

RVA's office, including the RARE Helpline, will be closed for the holiday break from Monday, 22 December 2025 and will reopen on Monday, 12 January 2026. Happy holidays to everyone and we wish you all a safe and restful break.