Hi RVA Supporter,

The countdown is on for the first-ever Rare Disease Disability Network Showcase (the Showcase) on 2 December ahead of International Day of People with Disability. Rare Voices Australia (RVA) looks forward to welcoming everyone to the Showcase, which brings together leaders from rare disease groups/organisations and other invited sector stakeholders for the first time in person. The Showcase is a key component of the Rare Disease Disability Project (the Project). We are proudly delivering projects for the Peer Support and Capacity Building grant for the National Disability Insurance Scheme (NDIS). Attendance is by invitation only to ensure appropriate representation across the sector. RVA has put together an exciting Agenda that includes a mix of presentations, panel sessions and a group activity. I look forward to seeing Showcase attendees next week.

Rare Disease Advocacy

It’s proving to be a busy end to the year for rare disease advocacy with various activities and consultations underway. I’d like to acknowledge the important work regarding health technology assessment (HTA) reform that Louise Healy, RVA’s Education and Advocacy Manager, has been leading alongside Ann Single, RVA Scientific and Medical Advisory Committee (SMAC) member and Chief Executive Officer (CEO) of Patient Voice Initiative, and Sharon Winton, CEO at Lymphoma Australia. This work involves several consumer organisations collaborating to show their collective support for agreed activities to help maintain momentum towards HTA reform. To help progress this important work on behalf of the consumer organisations involved, Louise, Ann and Sharon wrote to the Hon Mark Butler MP, Minister for Health and Aged Care and Minister for Disability and the NDIS. They also met with Professor Andrew Wilson, Chair of the HTA Implementation Advisory Group.

Update: Banning Genetic Discrimination in Life Insurance

A bill that would ban life insurers from discriminating against Australians based on genetic test results was introduced to parliament this week. It must still pass through both houses of parliament. If enacted, the law will not come into force for six months. If the bill is passed before mid-2026 (this week is the final parliamentary sitting week for 2025), the law will take effect in 2026. Congratulations to RVA SMAC member, Dr Jane Tiller, who has been leading this important work! We also acknowledge SMAC member Professor Paul Lacaze’s contribution. 

RVA previously supported the Australian Government’s announcement that it will legislate to ban the use of genetic test results in life insurance underwriting and welcomes the bill’s introduction to parliament. Congratulations to everyone involved in advocating for this important policy change.

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 Awareness Rare Education (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 Disease Day Is Less Than 100 Days Away

The 2026 Rare Disease Day campaign launched last Thursday with the release of the official video. Watch the video and download the 2026 promotion materials at the official Rare Disease Day website. You can also submit any events you’re planning so they appear on the global map.

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. We will be organising our annual Rare Disease Day Federal Parliamentary Event to mark the day. RVA will share more information as soon as we can. Attendance is by invitation only to ensure appropriate representation across the sector.

The Power of Storytelling

At RVA, we know how challenging, yet powerful, it can be to share stories of living with a rare disease. This month’s personal story shared by RVA Ambassador Natasha Ball resonates with me, especially the following passage:

Looking back, I realise how much I underestimated the road ahead. I thought I could out-organise it, out-plan it, out-think it. But Immune Mediated Necrotizing Myopathy (IMNM) doesn’t play by rules. It doesn’t care about calendars or routines. It arrives like a storm and stays like a shadow. I’ve had to learn to live in the grey—to find light in the darkest clouds, and to redefine what strength looks like.

Thank you to everyone who has shared their personal story with RVA and the rare disease sector throughout the year.

Congratulations to Clin/Prof Gareth Baynam

RVA congratulates SMAC member, Clin/Prof Gareth Baynam, on being named a finalist for Western Australia for the 2026 Australian of the Year award. We thank Gareth for his ongoing contribution to work towards achieving the best outcomes for the estimated two million Australians living with a rare disease.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Natasha shares both the relief of receiving a diagnosis and the challenges of navigating the rare disease landscape. She highlights how active advocacy and supporting others in the rare disease community has given her purpose and hope. "I decided I wouldn’t wait for the storm to end; I would learn to dance through it." Natasha is also a RVA Ambassador.

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 June 2025 RARE Portal eNewsletter. You can subscribe to receive an end-of-year update 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.

Additions to the RARE Portal

• Charcot-Marie-Tooth disease (Group of conditions)

• Dermatomyositis (DM)  

• Eosinophilic sialodochitis 

• Greig cephalopolysyndactyly syndrome 

• HNRNPH2-related neurodevelopmental disorder 

• Narcolepsy 

• Ornithine transcarbamylase (OTC) deficiency 

• Primary familial brain calcification (PFBC) (previously known as Fahr’s disease) 

• PTEN hamartoma tumour syndrome (Group of conditions) 

• Riboflavin transporter deficiency (RTD) 

• Russell-Silver syndrome 

• Trichohepatoenteric syndrome 

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.

Less Than 100 Days to 2026 Rare Disease Day!

Official 2026 Rare Disease Day Video

Official 2026 Rare Disease Day Posters

The release of the official Rare Disease Day video officially launched the 2026 campaign on 20 November. The 2026 promotion materials and the latest updates are available via the official Rare Disease Day website. 

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.

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. RVA will be facilitating our annual Rare Disease Day Parliamentary Event in 2026. Attendance will be by invitation only to ensure appropriate representation across the sector. RVA will share more details as soon as possible.

A bill that would ban life insurers from discriminating against Australians based on genetic test results was introduced to parliament this week. It must still pass through both houses of parliament. If enacted, the law will not come into force for six months. If the bill is passed before mid-2026 (this week is the final parliamentary sitting week for 2025), the law will take effect in 2026. Congratulations to RVA SMAC member, Dr Jane Tiller, who has been leading this important work! We also acknowledge SMAC member Professor Paul Lacaze’s contribution. Read Dr Tiller's article published in The Conversation.

RVA has continued engaging in several key disability initiatives throughout 2025 to advocate on behalf of Australians living with rare disease disability. The November Rare Disease Disability Advocacy article includes updates on RVA's advocacy to Members of Parliament, our submission to the National Disability Insurance Scheme (NDIS) Evidence Advisory Committee, an NDIS stakeholder engagement update and more. Read the article at RVA's website. You can also read about the Rare Disease Disability Project at RVA’s website. We are proudly delivering projects for the Peer Support and Capacity Building grant for the NDIS.

The Health Technology Assessment Consumer Consultative Committee (HTA-CCC) invites representatives of health consumer organisations to a free webinar, Enhancing HTA - 2025 Reflections.

Webinar Details

Date: Wednesday, 3 December 2025

Time: 11am – 12:30pm AEST

For more information and to register, visit the Department of Health, Disability and Ageing's website. Registrations close at 11:59pm, Monday, 1 December 2025.

About the Webinar:

Hosted by the Chair of the HTA-CCC, Jo Watson, this webinar will reflect on highlights of consumer sector activities in HTA during 2025. It will also look towards consumer engagement opportunities in 2026. Speakers will include representatives from consumer organisations and HTA committees. RVA's Chief Executive Officer, Nicole Millis and RVA's Education and Advocacy Manager, Louise Healy, will be speaking at the webinar.

The Department of Health, Disability and Ageing is seeking expressions of interest (EOI) from those suitably qualified who would like to be considered for upcoming committee member vacancies on national health technology assessment (HTA) committees and sub-committees. Applications are welcome from individuals with a broad range of medical, health economic, consumer, and other HTA-related and clinical expertise. This includes registered medical practitioners, scientific and health-related professionals, and consumer, patient and industry representation. Full details are available on the Department of Health, Disability and Ageing’s website. EOIs must be received by no later than 11:30pm (AEDT) on 15 December 2025.

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 Rare Disease Project ECHO® Clinical Community of Learning Practice is a continuing professional development activity delivered via interactive webinars. The initiative is a collaboration between Rare Diseases NSW and RVA, bringing together clinical, research and lived experience expertise. The webinars start with a presentation on a specific topic from an expert. This is followed by reflective discussion, which all participants are encouraged to join. New monthly Rare Disease Project ECHO® sessions are taking place from September to February 2026. The next session, Unlocking Tomorrow’s Treatments Today: Navigating Clinical Trials and New Therapies for Your Rare Disease Patients, is on 9 December 2025 at 6pm AEDT. See the full schedule of upcoming sessions on RVA's website. Register to attend via this web page.

Note: Rare Disease Project ECHO® is an RACGP-approved CPD activity. However, the sessions are valuable for all health professionals. 

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. We also thank those who attended the screening of The Princess Bride at The Revival House in Western Australia, which raised $400 for the Sawatzky Cup.

RVA Online Education

RVA's online education complements RVA’s Education Program and contains courses exclusively available to RVA Partners and courses available to everyone. Once you have successfully completed a course, you will receive a certificate. You'll need to login or register via the website to access the courses.

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: 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.