Hi RVA Supporter,

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) is leading 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). Together we’re ensuring that people with disability keep accessing supports to build their skills and connect with others who have shared similar experiences. This 2-year Project will conclude in December 2026.

The Project will be guided by a Stakeholder Reference Group (SRG) comprising people with lived experience of rare disease disability and diverse representation from priority populations (Aboriginal and Torres Strait Islander people; culturally and linguistically diverse communities; people living in regional, rural and remote areas; and other groups). Building on the existing strengths of the rare disease sector, the Project’s activities will identify and aim to address gaps in peer support and self-advocacy for people living with a rare disease disability.

RVA is currently seeking expressions of interest (EOI) for the SRG. I encourage those with lived experience of rare disease disability to read the Terms of Reference and apply if interested. An Easy English version of the Terms of Reference is available, and people are welcome to ask for support with their EOI. Please send any questions you may have about the Project or the SRG via email: disabilityprojects@rarevoices.org.au. Learn more about the Project and the role of the SRG, including the Terms of Reference, on RVA’s website.

2025–26 Federal Budget 

The Treasurer, the Hon Dr Jim Chalmers MP, delivered the 2025–26 Federal Budget last Tuesday. The focus on Medicare, more bulk billing, an increased number of Medicare Urgent Care Clinics and growing the health workforce will likely benefit most Australians. We also noted the projected changes to the NDIS. 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. RVA will continue advocating for the best outcomes for Australians living with a rare disease, including those with a rare disease disability.

In January this year, RVA lodged our 2025-26 Pre-Budget Submission for the Treasurer’s consideration, which consisted of key asks, including investment into Rare Disease Centres of Expertise (CoE). CoE are identified in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) as a key implementation mechanism and provide an optimal rare disease model of care. This request aligns with the priorities, actions and implementation steps outlined in the Action Plan. Importantly, it would significantly accelerate the Action Plan's collaborative implementation, while also addressing gaps in workforce and systems capacity. RVA will continue advocating for this on behalf of the rare disease sector.

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 delays. In March, RVA joined the collective response to the genetic discrimination life insurance treasury consultation, led by Dr Jane Tiller who is also a member of RVA’s Scientific and Medical Advisory Committee. RVA encourages people living with a rare disease to contact their local Member of Parliament to urge the government to prioritise this matter.

Rare Voices Australia Ambassador Program

Throughout March, we interviewed potential candidates for the 2025-27 RVA Ambassador Program. We are excited to announce our new RVA Ambassadors and hope to do so shortly. Thank you to everyone who lodged an expression of interest. As part of the selection process, RVA prioritised people who haven’t had the opportunity to share their stories widely in the past and who do not necessarily have access to an existing platform.

Welcome to Amanda Dickey

RVA welcomes Amanda Dickey as our Disability Project Officer! Amanda has a personal connection to Huntington’s disease and its community, and has been involved in grassroots advocacy, board governance, operational and program management. She will be working on the Rare Disease Disability Project over the next 2 years.

Finally, I wish those who celebrate a happy Easter. I hope you enjoy the short break.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Three days after Ashley was born, her parents heard the words, "your daughter may never walk". At four, Ashley was eventually diagnosed with Beck-Fahrner syndrome, a rare genetic condition. Ashley’s story illustrates how difficult the pathway to a diagnosis can be and how living with a rare disease impacts every aspect of a family’s life.  

RVA is leading 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). This 2-year Project will conclude in December 2026. The Project will be guided by a SRG comprising people with lived experience of rare disease disability and diverse representation from priority populations (Aboriginal and Torres Strait Islander people; culturally and linguistically diverse communities; people living in regional, rural and remote areas; and other groups). Building on the existing strengths of the rare disease sector, the Project’s activities will identify and aim to address gaps in peer support and self-advocacy for people living with a rare disease disability. Learn more about the Project and the role of the SRG, including the Terms of Reference (an Easy English version is available), on RVA’s website. Please send any questions you may have about the Project or the SRG via email: disabilityprojects@rarevoices.org.au. People are welcome to ask for support with their EOI. EOIs close Sunday, 13 April 2025.

The Australian Government Department of Health and Aged Care (the Department), in collaboration with all state and territory governments via the Inter-Governmental Policy Reform Group (IGPRG), is working on national reforms to improve how health and medical research is conducted. The national reforms will make it easier and safer for researchers, industry and participants to conduct, invest and take part in high-quality and ethical human research, including clinical trials for rare diseases. One major reform is the introduction of quality standards and an accreditation scheme for Human Research Ethics Committees (HRECs) and their host institutions. For more background information, visit RVA's website. 

Public Consultations

The Department would like to hear your views on the draft Quality Standards for HRECs and their host institutions and the options for accreditation. National public consultations on the Quality Standards will be held from 3 March to 17 April 2025, and can be accessed via this webpage.

Information Session

Please join the Department for an information session about the Quality Standards and the future Accreditation Scheme for HRECs and their host institutions on Wednesday, 2 April at 11am – 12pm noon AEDT. You can register via this webpage.

For more information about these reforms, please visit the Australian Clinical Trials website.

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:

• Epidermolysis Bullosa (EB) (co-developed with RVA Partners, DEBRA Australia and EB Research Partnership Australia)
• Pitt-Hopkins syndrome
• White-Sutton syndrome

Researchers from Murdoch University would like to hear from people with lived experience of a rare genetic condition. Community Conversations will explore the real-world experiences of individuals with rare genetic conditions to guide the development of clear, accessible resources for families navigating emerging personalised medicines.

Event Details

Date and time: 9 April, 6pm – 8pm

Location: Murdoch University, Western Australia: 90 South St, Murdoch - Boola Katitjin

People with a rare genetic condition and carers are invited to attend. Find out more and register on Consumer and Community Involvement Program’s website. You can see the flyer (PDF) for more information.

Researchers from the University of Sydney are interested in hearing about people’s experiences with invalidation in healthcare settings, and their recommendations for increasing validating care. If you are an adult with chronic pain and are receiving healthcare in Australia, the research team invites you to participate in a survey, which should take 10-15 minutes. There is also an optional online interview. Learn more via this webpage.

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