Hi RVA Supporter,

I hope you all enjoyed a well-deserved break over the holiday period. It’s been a busy start to 2025 at Rare Voices Australia (RVA) with our annual Rare Disease Day Parliamentary Event taking place on 11 February. The event will be hosted by the Co-Chairs of the Parliamentary Friends of Australians Living with Rare Diseases, Dr Mike Freelander MP, Senator Wendy Askew and Dr Monique Ryan MP. RVA is pleased to confirm that the Hon Mark Butler MP, Minister for Health and Aged Care, and Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care, will be joining us to speak. Numbers are strictly limited, so attendance is by invitation to ensure stakeholder balance. If you have received an invitation and have not already RSVP’d, please do so by 2 February if you plan on attending. Following this date, no changes can be made due to the tight event turnaround.

Parliamentary Events provide key stakeholders with the opportunity to meet and speak with parliamentarians to further highlight rare diseases. Enabling parliamentarians to gain a better understanding and awareness about rare diseases is even more important as 2025 is a Federal Election year. Rare Disease Day is the perfect opportunity to highlight the importance of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) and its ongoing collaborative implementation. We encourage all attendees to invite their local Member of Parliament.

Held annually on the last day of February, Rare Disease Day (28 February 2025) 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. Globally, 300 million people worldwide live with a rare disease. Locally, Rare Disease Day is also 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.

Delays to Banning Genetic Discrimination in Life Insurance

RVA previously supported the Australian Government’s announcement that it will legislate to ban the use of genetic test results in life insurance underwriting. The legislation that needs to be drafted and implemented in Parliament may not be introduced before the Federal Election, causing delay. We encourage people living with a rare disease to contact their local Member of Parliament to urge the government to prioritise this matter.

Rare Voices Australia is Hiring!

We are excited to be expanding RVA’s team after being named one of the grant recipients of the Peer Support and Capacity Building grant round announced in late 2024. RVA is looking for a Disability (Rare Disease) Project Officer. 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. The disability impacts of living with a rare disease often aren’t recognised by policymakers. Reporting to RVA’s Disability Advocacy Manager, the Project Officer will deliver grant project outcomes for the Rare Disease Disability Network. If you have proven experience in a similar role and are committed to improving the lives of Australians living with a rare disease, we’d love to hear from you. Download the full Position Description on RVA’s website. Applications close at 5pm AEDT this Monday, 3 February.

Mental Health First Aid Training to Address the Mental Health Challenges Unique to the Rare Disease Community 

RVA now has two accredited Mental Health First Aid (MHFA) Instructors with an understanding of the mental health challenges unique to the rare disease community. If you are interested in training for your organisation, please contact RVA’s Education and Advocacy Manager, Louise Healy: louise.healy@rarevoices.org.au.

The 2025 Sawatzky Cup Tennis Tournament Raises Almost $8k for Australians Living with a Rare Disease

The Sawatzky Cup tennis tournament was played in Western Australia on 11 January and to date, has raised an amazing $7,760! Donations are still open, and you can donate via RVA's website. The donation page will remain open until after 2025 Rare Disease Day. Funds raised will help RVA to continue overseeing the collaborative implementation of the Action Plan and contribute to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease.

Special thanks to tournament director, Norman Burns, for his efforts as well as the Sawatzky family. We know how much time, effort and energy goes into organising successful events. We also thank the event sponsors, competitors, those who donated and everyone else involved in making the 2025 Sawatzky Cup a success. Planning is already underway for 2026!

Lastly, I look forward to seeing those attending RVA’s Rare Disease Day Parliamentary Event in Canberra soon. The Rare Disease Day Parliamentary Event is one of the most anticipated and important days in the rare disease calendar.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Rare Disease Day is marked on the last day of February annually. In 2025, Rare Disease Day falls on 28 February. The 2025 Rare Disease Day video showcases people living with a range of rare diseases from all around the world, including former RVA Ambassador, Tammie Rees, and her daughter Ava who lives with Maple Syrup Urine Disease, a rare metabolic disease. Watch the video below and download the campaign materials via the official Rare Disease Day website. You can also submit any upcoming Rare Disease Day events via this page.

As the national peak body for Australians living with a rare disease, RVA is the national alliance representing Australia in annual Rare Disease Day preparations. We are also on the Rare Disease Day Steering Committee, which takes a longer-term strategic view of the campaign.

Hosted by the Parliamentary Friends of Australians Living with Rare Diseases, RVA is organising our annual Federal Parliamentary Event on Tuesday, 11 February 2025 to mark Rare Disease Day. 

Official 2025 Rare Disease Day Video

Personal Story of the Month

Ineke shares her experience living with corneal neuralgia (also known as corneal neuropathic pain), a rare condition causing severe eye pain, often without a clear cause or standard treatment. She highlights how living with a rare disease can affect a person's entire life, including their social interactions.  

RVA is excited to be expanding our team! We are looking for a Disability (Rare Disease) Project Officer. 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. The disability impacts of living with a rare disease often aren’t recognised by policymakers. Reporting to RVA’s Disability Advocacy Manager, the Project Officer will deliver grant project outcomes for the Rare Disease Disability Network. If you have proven experience in a similar role and are committed to improving the lives of Australians living with a rare disease, we’d love to hear from you. Download the Position Description via RVA's website. Applications close at 5pm AEDT Monday, 3 February.

In late 2024, the Hon Bill Shorten MP, the former Minister for the National Disability Insurance Scheme, issued a media release to announce $39.8 million in funding over two years in grants to 69 disability organisations across Australia. Read the media release. As the national peak body for Australians living with a rare disease, RVA is pleased to be one of the grant recipients. We will share more information with the rare disease sector as soon as we can, including grant opportunities for RVA Partner groups/organisations. RVA congratulates all other grant recipients. A list of grant recipients can be found on the Peer Support and Capacity Building web page (click on ‘Recipients’ at the bottom of the page). 

RVA has published our 2024 Annual Report, which covers until the year ended 30 June 2024. Download the Annual Report 2024 via RVA's website. In the third quarter of each year, the RVA Board of Directors preside at the Annual General Meeting. In accordance with the Australian Securities and Investment Commission (ASIC) and in compliance with a registered Company Limited by Guarantee, RVA’s financials are audited by a registered Company Auditor. The reports are submitted and publicly disclosed with ASIC and the Australian Charities and Not for Profit Commission (ACNC).

Several newborn bloodspot screening (NBS) expansion updates have been made recently. Find the latest updates, including information about the conditions screened across Australia and the consideration of new conditions for inclusion in Australia’s NBS programs on the Department of Health and Aged Care's (DoH) website. 

There are also two NBS fact sheets available on the DoH's website under Resources:

• NBS – Our national decision-making pathway fact sheet
• NBS – Delivering consistency and expansion fact sheet

The NBS Delivering consistency and expansion fact sheet has been updated to reflect recent developments in NBS expansion. 

The Sawatzky Cup tennis tournament, presented by Zarraffas Coffee Currambine, was played on the grass courts of Alexander Park Tennis Club in Western Australia on Saturday, 11 January 2025. To date, the Sawatzky Cup has raised an amazing $7,760! Donations are still open and you can make a donation via RVA's website. The donation page will remain open until after 2025 Rare Disease Day.

RVA thanks tournament director, Norman Burns, for his efforts as well as the Sawatzky family. We thank the event sponsors, the 110 competitors who participated, those who donated and everyone else involved in making the fifth annual Sawatzky Cup a success.

About the Sawatzky Cup

The Sawatzky Cup is a single-day doubles tennis event (men and women) 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). Since its inception the tournament has grown each year, from one sponsor and around 50 entrants in 2021 to 20 sponsors and an ever-growing field, some teams coming from 300km away in Western Australia's South West. You can visit the official Sawatzky Cup website for the latest news and updates. 

In 2025, funds raised from the tournament were donated to RVA, which will help us to continue overseeing the collaborative implementation of the Australian Government's National Strategic Action Plan for Rare Diseases, and contribute to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease. 

"A prime objective is to put a spotlight on the work of Rare Voices Australia, which is why a high proportion of sponsors' money goes into producing shirts, caps and player bags that not only look great with the RVA logo but help reinforce that rare disease awareness is something that's important well beyond tournament day," said Burns who is already planning the 2026 event. 

Images courtesy of Scotty's Media

Sydney Children's Hospital is hosting a clinical education day to celebrate Rare Disease Day on 28 February. The event is for health professionals who have an interest in rare disease. Louise Healy, RVA's Education and Advocacy Manager, will be speaking. Attendees will also hear from award winning photographer Rick Guidotti, founder of Positive Exposure, which celebrates the richness of human diversity, aiming to change attitudes towards individuals living with genetic, physical, behavioural or intellectual difference. Register via this web page. For more information, contact: RareDiseasesNSW@unsw.edu.au.

Rare Diseases NSW, the University of New South Wales, the Sydney Children's Hospital Network, and the 22q Foundation Australia and New Zealand are collaborating to host a Rare Disease Day-themed event on 1 March at the Sydney Children's Hospital. This family-friendly event brings together people living with a rare disease, health professionals, and the wider community to connect, share, and inspire. There will also be fun activities for kids and attendance is free. Louise Healy, RVA's Education and Advocacy Manager, will be speaking. Attendees will also hear from award winning photographer Rick Guidotti, founder of Positive Exposure. Learn more and register via this web page. For more information, contact: RareDiseasesNSW@unsw.edu.au.

The 131 members of the Coalition in Support of the World Health Assembly (WHA) Resolution on Rare Diseases, which includes RVA, have published an open letter to Dr Tedros Adhanom Ghebreyesus, Director-General of the World Health Organization (WHO). The letter emphasises the need for a Global Action Plan on Rare Diseases. The Global Action Plan on Rare Diseases is critical to ensuring sustainable solutions and greater equity for persons living with a rare disease. The Coalition is urging the WHO to:

• Dedicate resources to develop the Global Action Plan

• Support Member States in adopting and implementing the WHA Resolution

• Engage people living with a rare disease and their advocates in the process

• Foster international collaboration

The Coalition remains committed to collaborating with WHO and Member States to advance this agenda. RVA will share more updates as we receive them. Visit Rare Diseases International's website for more background information and a suite of advocacy tools, including social media posts.

RVA Online Education Portal 

RVA's Online Education Portal complements the workshops, webinars and customised mentoring support provided to RVA Partner groups/organisations through our Education Program. Available 24/7, the site contains several free and restricted resources. Learn more about RVA's Online Education Portal and register now if you haven't already. 

Note: You will need to register to access the courses if you haven't already.

Tasmania's Minister for Health has launched a Discussion Paper inviting all Tasmanians to contribute to the development of a new 20-Year Preventive Health Strategy. This is a chance for Tasmanians to help create a healthier state by telling the Tasmanian Government how to improve the systems that affect your health and support people in adopting healthier behaviours. The new 20-Year Preventative Health Strategy will work to create positive, lasting change for a healthier Tasmania. To learn more, visit the Tasmanian Government Department of Health website.

People living with a rare disease often face unique challenges that impact their overall mental health and wellbeing. If you live with a rare disease, University of Sydney researchers would love to hear from you about your experiences accessing mental health support and services and how these can be improved. The study invites adults 18 years and above living with a rare disease, to fill out an anonymous online survey about your experience with your rare disease, the impact this has on your mental health, and your experiences accessing and using mental health supports and services. The survey takes up to 30 minutes. For more information, see the survey on this webpage. 

The Conversation has published an article about the gEnomics4newborns research study, which RVA was involved in. Should we sequence the DNA of every baby born in Australia? Soon, you could have your say provides context about Australia’s newborn bloodspot screening program, considers the benefits and risks involved and includes key questions that need to be answered. The article also explains how people can have their say.

gEnomics4newborns aims to find ways to weigh up the positives and negatives of newborn genetic testing that reflect Australian community views and develop tools for policy makers that integrate the assessment of ethics, equity, effectiveness and cost-effectiveness into decision making. This research directly addresses several actions and implementation steps in the Australian Government’s National Strategic Action Plan for Rare Diseases. Nicole Millis, RVA’s Chief Executive Officer, will be a partner investigator in the proposed program of work.

The European Journal of Medical Genetics has published the paper ‘Rare Care – Cross Sector Care Coordination’, co-authored by RVA Scientific and Medical Advisory Committee member, Clin/Prof Gareth Baynam. The paper introduces a holistic model of care designed to improve the health and wellbeing of children living with a rare or undiagnosed disease in Western Australia. Drawing on the success of the Rare Care Centre at Perth’s Children’s Hospital, the paper highlights the implementation of a cross-sector care coordination service that integrates health, school education, welfare, disability, and social services.  

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.

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 and/or professionals where possible

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

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