A Word From Our CEO

Hi RVA Supporter,

Work on the Rare Awareness Rare Education (RARE) Portal, Australia’s growing national resource for rare diseases, continued throughout 2025. Rare Voices Australia (RVA) was excited to share the refreshed RARE Portal in July. Thank you to all stakeholders, particularly our RVA Partner group/organisation leaders, for your willingness to work with RVA to continue developing the RARE Portal. Stakeholder input into the RARE Portal is invaluable and central to informing the website.

Ongoing RARE Portal Development

The “provision of an accessible multi-purpose digital repository of information and resources for rare diseases, including available care and support services” is a key deliverable of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). RVA continues to adopt an iterative approach to RARE Portal development that prioritises collaboration and generating feedback from key stakeholders in the sector. This robust and extensive consultation process remains central to the RARE Portal’s ongoing development.

Initial development of the RARE Portal was funded by the Australian Government with RVA receiving $1 million over three years from 1 July 2021 to 30 June 2024 to lead the collaborative development of the RARE Portal and other education activities. We are pleased that funding for the RARE Portal has been extended again and will continue until at least September 2026.

RARE Helpline Update

Since July 2023, the RARE Helpline has been providing service navigation support for Australians living with a rare and complex disease. This work is part of The Navigator Project grant funding, which continues until 30 June 2026.

RVA has been engaging in ongoing discussions with the Department of Health, Disability and Ageing in preparation for the grant’s conclusion. 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.

The RARE Help page will consist of resources that will be codesigned and evaluated by people living with a rare disease. These resources will be delivered in plain English formats and target populations with low levels of health and English literacy. The resources will be based on the most common queries RVA has received while operating the RARE Helpline.

RARE Portal Staffing Updates

Congratulations to Dr Amanda Choo who has been promoted to RARE Portal Manager. Amanda has been integral to the RARE Portal’s collaborative development since its launch in 2023. Additionally, we’re pleased to welcome Lucinda Walker as our RARE Portal Officer. Lucinda holds a Bachelor of Advanced Science (First Class Honours) and is a final year PhD candidate and Global Challenges Scholar at the Institute for Molecular Bioscience at The University of Queensland. RVA previously hosted Lucinda as part of her studies. Learn more about the RARE Portal editorial team. Additionally, I'd like to thank higher degree research student, Angela Khin Oo Lwin, who completed a three-month student placement in October. RVA is proud to support student placements to promote awareness and education of rare diseases among early to mid-career researchers.

2026 Rare Disease Day

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.

In 2026, Rare Disease Day falls on Saturday 28 February. RVA will be facilitating our annual Rare Disease Day Federal Parliamentary Event hosted by the Parliamentary Friends of Australians Living with a Rare Disease to mark the day. We will share more information as soon as we can. Attendance is by invitation only to ensure appropriate representation across the sector.

Wishing Everyone a Restful Holiday Break

As this is our final RARE Portal eNewsletter for 2025, I’d like to acknowledge and thank the RVA Board, our Scientific and Medical Advisory Committee, volunteers and staff for your ongoing hard work and support. It’s been another busy year for all rare disease stakeholders. I hope you can rest and recharge over the holiday break. Merry Christmas to those who celebrate and Happy New Year to everyone.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

RARE Helpline 

The RARE Helpline is a service navigation and information helpline that can assist you in finding more information and support for rare diseases.

The RARE Helpline:

• Supports people to connect with existing information that is reliable

• Provides resources that respond to people’s specific needs

• Helps to increase people’s health literacy and engagement with care and support services

• Assists in connecting people with existing health services where possible

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.

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

RVA welcomes Lucinda Walker to the team as our RARE Portal Officer! Lucinda has a background in scientific research. Lucinda holds a Bachelor of Advanced Science (First Class Honours) and is a final year PhD candidate and Global Challenges Scholar at the Institute for Molecular Bioscience at The University of Queensland. Her doctoral research focuses on understanding the molecular determinants of pain by combining toxin pharmacology and sensory neuroscience. Lucinda has previously worked on research in developmental genetics and Alzheimer’s disease. She is passionate about using her scientific literacy skills, developed through diverse research experiences, to empower others to better understand the diseases that affect them and their communities.

Additions to the RARE Portal Since June 2025

Information Pages:

• Rare Disease Education and Support Resources for Primary Health Care Professionals
• Finding Helpful Peer and Community Supports (co-designed by RVA’s Ambassadors, the RARE Helpline team and RVA’s education and advocacy team)
• Think You or a Loved One Has an Undiagnosed Rare Disease? (co-designed by RVA’s Scientific and Medical Advisory Committee (SMAC), and RVA Partners, Genetic Alliance Australia and Syndromes Without A Name (SWAN) Australia)
• Facilitating a Rare Disease Diagnosis and Supporting Undiagnosed Patients (co-designed by RVA’s SMAC, and RVA Partners, Genetic Alliance Australia and SWAN Australia)
• Rare Disease Resources for the Aboriginal and Torres Strait Islander Community
  
• Rare Disease Resources for the Culturally and Linguistically Diverse Community 
  
• Rare Disease Resources for the Regional, Rural and Remote Community 
  

Ongoing Multistakeholder Consultation Process

Thank you to the stakeholders who have participated in the ongoing RARE Portal consultation process. We especially thank our RVA Partners (rare disease organisations) that have participated in consultations and co-developed rare disease pages. RVA will continue reaching out to other RVA Partners with an invitation to participate in the ongoing development of the RARE Portal.

Thank you to RVA Partner, Huntington's Australia, for codesigning the Huntington’s disease page with the RARE Portal team. Huntington’s Australia is the peak national body dedicated to supporting individuals and families impacted by Huntington’s disease across Australia.

Thank you to RVA Partner, Immune Deficiencies Foundation Australia (IDFA), for codesigning the Primary immunodeficiencies and Secondary immunodeficiencies pages with the RARE Portal team. IDFA supports Australians living with immunodeficiency through education, awareness and advocacy.

Thank you to RVA Partner, Liver Foundation, for codesigning the Liver conditions page with the RARE Portal team. Liver Foundation is Australia’s peak national body focused on improving outcomes for all people living with liver disease.

Thank you to RVA Partner, Maddie Riewoldt's Vision, for codesigning the Bone marrow failure syndromes page with the RARE Portal team. Maddie Riewoldt’s Vision funds vital research to accelerate new treatments for Bone Marrow Failure Syndromes, while providing support, guidance and resources to patients and their families.

Thank you to RVA Partner, Malan Syndrome Foundation, for codesigning the Malan syndrome page with the RARE Portal team. Malan Syndrome Foundation aims to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach and research.

Thank you to RVA Partner, Genetic Cures for Kids (Our Moon’s Mission), for codesigning the Hereditary spastic paraplegia type 56 (SPG56) page with the RARE Portal team. Genetic Cures for Kids is a not-for-profit health promotion charity raising awareness and funds for rare genetic diseases affecting children.

Thank you to RVA Partner, Parenteral Nutrition Down Under (PNDU), for codesigning the Chronic intestinal failure page with the RARE Portal team. PNDU’s mission is to support research and inform consumers, carers and providers of parenteral nutrition for intestinal failure.