Hi RVA Supporter,

April started with the news that the Banning Genetic Discrimination in Life Insurance Bill had passed through Parliament. After receiving Royal Assent on 8 April 2026, the bill became the Treasury Laws Amendment (Genetic Testing Protections in Life Insurance and Other Measures) Act 2026 and can be found in the Federal Register of Legislation. On 8 October 2026, Schedule 1 (the portion banning genetic discrimination in life insurance) will become fully operational and enforceable.

Congratulations to Rare Voices Australia (RVA) Scientific and Medical Advisory Committee (SMAC) member, Dr Jane Tiller, who has been leading this important work! We also acknowledge SMAC member Professor Paul Lacaze’s contribution.

As the national peak body for Australians living with a rare disease, RVA 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 new Act. We acknowledge everyone involved in advocating for this important policy change.

National Disability Insurance Scheme Reset Must Safeguard People with Rare Disease Disability

On 22 April, the Hon Mark Butler MP, Minister for Disability and the National Disability Insurance Scheme (NDIS) and the Minister for Health and Ageing, addressed the National Press Club and issued a media release. Significant changes to the NDIS have been outlined, including measures to address fraud, cost growth and market failure. These objectives are understood and broadly supported by RVA. Read the article we published about the reset at RVA’s website.

RVA acknowledges the Australian Government’s intent to strengthen the integrity and long-term sustainability of the NDIS. However, the impact of the proposed reforms on people with rare, complex and lifelong disabilities will depend on how they are designed, sequenced and implemented. Sustainability cannot be achieved if cost containment becomes the practical driver of reform without sufficient attention to complexity, rarity, geography and cumulative health and disability impacts. 

It’s vital that the proposed reforms are nuanced enough to address the critical unmet needs of the rare disease community. RVA is seeking more information regarding several aspects of the reforms. I am particularly concerned about the proposed changes to the Administrative Review Tribunal and the impact they may have on Australians living with rare disease disability to appeal decisions.

These uncertainties around ongoing reforms reiterate the importance of ongoing rare disease disability advocacy. RVA supports reforms that strengthen the safety, integrity and long-term viability of the NDIS. We are committed to working constructively with the Australian Government to co-design this next critical chapter of the NDIS.

RVA continues to advocate for Australians living with rare disease disability through engagement in key disability reform initiatives. RVA is:

• A member of the Disability Representative and Carers Organisations (DRCO) Forum. DRCOs work closely with the National Disability Insurance Agency (NDIA) on reforms, changes and improvements to the NDIS. We are participating in the next quarterly DRCO Forums to advocate for the estimated two million Australians living with a rare disease, nearly all of whom experience long-term impacts daily—impacts that meet the Australian Government’s definition of a disability.
• A member of the Neurodegenerative Palliative Care and Rare Conditions Advisory Group (NPRAG) to the NDIS. 
• Leading the Rare Disease Disability Project. We are proudly delivering projects for the Peer Support and Capacity Building grant for the NDIS. 

2026-27 Federal Budget 

Treasurer Jim Chalmers will hand down the 2026-27 Federal Budget on Tuesday, 12 May 2026. Louise Healy, RVA’s Education and Advocacy Manager, will be in Canberra for Budget week.

RVA lodged a 2026-27 Pre-Budget Submission, calling for:

• Peak body funding for RVA.

• Investment in an optimal rare disease model of care and the provision of a one-off workforce grant to accelerate the current development of Rare Disease Centres of Expertise in Australia.

• A commitment to developing an Office for Rare Diseases within the Commonwealth Government.

• Investment into the full implementation of the recommendations from the Health Technology Assessment Policy and Methods Review.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Gabby was diagnosed with Takayasu arteritis seven years ago. Her mother, Rebecca, shares her personal story, sharing the challenges the family experienced while navigating the healthcare system and the importance of care coordination. Rebecca's story also reiterates how people living with a rare disease often become experts in their condition.

As the national peak body for Australians living with a rare disease, RVA acknowledges the Australian Government’s intent to strengthen the integrity and long-term sustainability of the National Disability Insurance Scheme (NDIS).

On 22 April 2026, the Hon Mark Butler MP, Minister for Disability and the NDIS and the Minister for Health and Ageing, addressed the National Press Club and issued a media release. Significant changes to the NDIS have been outlined, including measures to address fraud, cost growth and market failure. These objectives are understood and broadly supported by RVA.

However, the impact of the proposed reforms on people with rare, complex and lifelong disabilities will depend on how they are designed, sequenced and implemented. Sustainability cannot be achieved if cost containment becomes the practical driver of reform without sufficient attention to complexity, rarity, geography and cumulative health and disability impacts. Read the full article at RVA's website.

The Banning Genetic Discrimination in Life Insurance Bill passed through Parliament on 1 April 2026. After receiving Royal Assent on 8 April 2026, the bill became the Treasury Laws Amendment (Genetic Testing Protections in Life Insurance and Other Measures) Act 2026 and can be found in the Federal Register of Legislation. On 8 October 2026, Schedule 1 (the portion banning genetic discrimination in life insurance) will become fully operational and enforceable.

We congratulate RVA Scientific and Medical Advisory Committee (SMAC) member, Dr Jane Tiller, who has been leading this important work! We also acknowledge SMAC member Professor Paul Lacaze’s contribution.

As the national peak body for Australians living with a rare disease, RVA 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 new Act. We acknowledge everyone involved in advocating for this important policy change.

The Consumer Evidence and Engagement Unit (CEEU) is developing a framework that sets out guiding principles, focus areas and actions to support better consumer engagement in health technology assessment (HTA). They’d like to hear people’s thoughts on the framework and how it could be improved. They will summarise the responses gathered and share the findings so that people can see what they heard and how the feedback was used to improve the framework. View the framework at the Department of Health, Disability and Ageing’s website. Have your say by Tuesday, 26 May 2026 by completing the survey on this web page.

RVA will be hosting the next National Rare Disease Summit on 20 and 21 November 2026 in Melbourne. The 2026 Rare Disease Disability Network Showcase will take place on 19 November at the same venue. Attendance at both events is by invitation only to ensure appropriate representation across the sector. We will share more information with those invited as soon as possible. For now, please save these dates in your calendar if you anticipate receiving an invitation to either or both events. RVA will distribute save the date emails to those invited soon.

RVA Ambassador, Lauren Geatches, and inaugural RVA Ambassador, Tim Fulton, shared their stories on the Running for Resilience (R4R) podcast recently. Lauren and Tim share their stories of living with a rare disease and the parallels between their stories. They talk about diagnosis, day-to-day resilience, and what it takes for families to keep going when the path is uncertain. The podcast also explores the mental health and wellbeing impacts of living with a rare disease. Watch the podcast on YouTube or listen on Spotify. You can find mental health and wellbeing resources for people living with a rare disease on the Rare Awareness Rare Education (RARE) Portal. Medicare Mental Health lists several support services if urgent help is required.

The Global Nursing Network for Rare Diseases (GNNRD) has released its first position paper, Advancing Global Nursing Education in Rare and Undiagnosed Disease. This work was led by GNNRD’s Education & Learning Committee and sets a clear direction for how to strengthen nursing and midwifery capability for rare and undiagnosed diseases. Most nurses and midwives receive little or no formal education in rare and undiagnosed diseases.

The position paper outlines practical, system-level actions across policy, education and health services, providing a pathway for governments, education providers, health systems and nurses to drive meaningful change. Download the position paper from the GNNRD’s website.

The Ensuring Culturally Safe Health Genomics with Aboriginal and Torres Strait Islander Peoples - Guiding Principles (Guiding Principles) were developed by the Aboriginal and Torres Strait Islander Advisory Group on Health Genomics. They provide guidance for health genomics clinical and research organisations to support improvements in the quality of care and health outcomes for Aboriginal and Torres Strait Islander people. Read the Guiding Principles on Genomics Australia’s website.  

29 April was Undiagnosed Day, which creates awareness for people living with undiagnosed diseases. Australians living with an undiagnosed rare disease are identified as a priority population in the Australian Government's National Strategic Action Plan for Rare Diseases. Around 50% of people with a rare disease who are assessed by a health professional will remain undiagnosed. If you think you or someone you care for may have an undiagnosed rare disease, some steps you can take are outlined on the Rare Awareness Rare Education (RARE) Portal.

The National Health and Medical Research Council’s (NHMRC) Community Research Priorities Portal (the Portal) allows consumers, community and professional groups to submit research topics that may warrant a dedicated funding call (grant opportunity) in the form of a Targeted Call for Research (TCR). A TCR is a one-time request for grant applications, designed to stimulate research or build research capacity in a particular area of health and medical science. The Portal is open for submissions until 30 June 2026. Learn more about the Portal on the NHMRC’s website. 

Researchers from the University of Technology Sydney, in partnership with the Multicultural Disability Advocacy Association, are seeking parents or carers of a child with a genetic neurodevelopmental condition to participate in a workshop. Participants will attend a half-day workshop on Monday, 25 May 2026 (10am – 1pm) in Granville, New South Wales. The insights will help to inform the co-design of a digital tool to support other families as they learn about their child’s genetic diagnosis. More information about the workshop can be found on this flyer. Registration for the event is essential. To register, please contact mdaa@mdaa.org.au.  

The InFORMed Project (the Project) template has been developed to support a participant-centred, simplified, national Participation Information and Consent Form (PICF). The Project aims to improve the efficiency and impact of health and medical research in Australia by making it easier for consumers to make decisions about participation. Download the PICF template, including a vision accessible version and user guide, on the InFORMed Project's website. 

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.

Additions to the RARE Portal

• Alkaptonuria 

• BASCULE syndrome 

• Chiari malformations 

• Chorea-acanthocytosis 

• Darier disease 

• Glossopharyngeal neuralgia 

• Hereditary haemorrhagic telangiectasia 

• Idiopathic anaphylaxis 

• IRF2BPL-related disorder 

• Jacobsen syndrome 

• Joubert syndrome 

• KBG syndrome 

• Leri pleonosteosis 

• McLeod syndrome 

• Melorheostosis 

• Patau syndrome 

• PPA2 deficiency 

• Progressive supranuclear palsy 

• Tracheobronchomalacia

Contribute to the RARE Portal

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.

RARE Help

The RARE Help page consists of resources that have been codesigned and evaluated by Australians living with a rare disease. The page consists of resources to address some of the most common questions RVA receives as the national peak body for Australians living with a rare disease. Information pages developed include:

• Considerations for Participating in Health and Medical Research 

• Financial and Practical Supports 

• How to Find Information About a Specific Rare Disease 

• How to Find Health Care Providers for Rare Disease Care 

Researchers from the University of Sydney are interested in understanding the experience of people with difficulties expressing or communicating pain. Individuals with lived experience, carers, clinicians, and community organisations are invited to take part in a 2-hour workshop between March to June 2026. The insights gained will help to inform accessibility and the quality of future technology for pain reporting and tracking. More information about this study can be found on this flyer. To register your interest, please visit the University of Sydney’s website. 

Researchers from the University of New South Wales (UNSW) Sydney are interested in exploring the professional contributions of adult siblings of people with disability when entering roles in the Australian disability sector. The researchers are looking for people who are: 

• Siblings of a person with disability.

• Working in a role that is specifically disability-focused. (The role could be in direct support and care, allied health, education or special education, disability services, disability tech, advocacy or policy, government or statutory authorities, or academia. It may also be in another area related to disability.)

• Aged 18+.

• Living in Australia.

You will be asked to complete an online survey about how your life experience with your sibling with disability impacts the way you do your job in the disability sector. The survey will take about 15 minutes. Learn more on UNSW Sydney’s website.  

Are you parenting a 5-18 year old? Does your child have experience living with a disability or life-limiting condition? You may be eligible to participate in a research study conducted by The University of Melbourne.

Researchers would like to speak to a range of people who are parenting and their adolescents about their thoughts on a general health questionnaire. The questionnaire might be used in research or clinical health settings and asks children (or their parents) to report on general difficulties with their: ‘mobility’; ‘looking after myself’; ‘doing usual activities’; ‘pain/discomfort’; and ‘feeling worried, sad or unhappy’. Researchers are interested in ways they might improve the questionnaire to better meet the needs of children and young people living with life-limiting conditions or disability. The interviews will go for 45 minutes to 1 hour. 

To express your interest (EOI) in participating, complete this short survey by 22 June 2026. Researchers will be selecting a small number of participants and are aiming to reach people with a range of different experiences. They may not contact everyone who completes the EOI survey.

The International Rare Diseases Research Consortium (IRDiRC) has released a series of online courses about rare diseases:

• From DNA to Cure: Gene and Gene‑Modified Cell Therapies for Rare Diseases

• Health Data Ethics & Regulatory Frameworks in Rare Disease Research

• From Lab to Clinic: Translational Research for Rare Diseases

The courses have been developed by the Foundation for Rare Diseases, host of the IRDiRC Scientific Secretariat, with different European and international partners. The courses are aimed at students, researchers, healthcare professionals, biotech and start-up developers, consumer representatives, and anyone interested in broadening their knowledge of rare diseases. Free access to each course is available for a limited time. The courses are accredited by The CPD Certification Service, which is based in the United Kingdom.

Rare Disease Disability Toolkit

The nationally codesigned Rare Disease Disability Toolkit (the Toolkit):

• Includes new peer-to-peer supports.
• Builds capacity in disability rights and self-advocacy.
• Supports people to better access and navigate disability and other systems (such as health, education and employment).

First Round of Resources:

1. National Disability Insurance Scheme (NDIS) and Rare Disease Disability – Part 1: Accessibility and Eligibility

2. Reasonable Adjustments in Healthcare: What Can I Ask For?

3. Navigating Air Travel with Rare Disease Disability

How to Use the Toolkit

Each resource includes a main guide and extra tools to help you speak up for yourself and use together with your support team. More resources will be added throughout 2026.

Share the Toolkit 

• Facebook: Rare Disease Disability Toolkit

• LinkedIn: Rare Disease Disability Toolkit

• Instagram: Rare Disease Disability Toolkit

Toolkit Development

The Toolkit was codesigned with people living with rare disease disability and facilitated by RVA. The Toolkit was funded by the Australian Government through the Peer Support and Capacity Building grant for the NDIS as part of the Rare Disease Disability Project.