Hi RVA Supporter,

It was great to see so many of you at Rare Voices Australia’s (RVA) Rare Disease Day Parliamentary Event earlier this month. Hosted by the Parliamentary Friends of Australians Living with a Rare Disease, a key aim of Rare Disease Day is to raise awareness among policymakers. The event theme was Equity for People Living with a Rare Disease, which provided the perfect opportunity to launch the first round of resources for the nationally codesigned Rare Disease Disability Toolkit (scroll down for more information). You can read more about the Parliamentary Event and see the photos at RVA’s website.

Over 100 guests, including people living with a rare disease, RVA Ambassadors, governments, key peak bodies, researchers, clinicians and industry attended, making the event one of RVA’s largest-ever Parliamentary Events. Having such a diverse range of stakeholders in attendance is testament to the momentum gained by the rare disease sector as the collaborative implementation of the National Strategic Action Plan for Rare Diseases continues.

Thank you to the parliamentarians who joined us, including the following speakers:

• Hon Mark Butler MP, Minister for Health and Ageing and Minister for Disability and the National Disability Insurance Scheme (NDIS)

• Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care

• Senator Wendy Askew, Co-Chair, Parliamentary Friends of Australians Living with a Rare Disease and Senator for Tasmania

• Dr Mike Freelander MP, Co-Chair, Parliamentary Friends of Australians Living with a Rare Disease and Member for Macarthur

• Dr Monique Ryan MP, Co-Chair, Parliamentary Friends of Australians Living with a Rare Disease and Member for Kooyong

Additionally, thank you to our Chair, Dr Tarun Weeramanthri AM, and Medical Director of the Clinical Centre of Expertise for Rare and Undiagnosed Diseases (the Rare Care Centre) and RVA Scientific and Medical Advisory Committee (SMAC) member, Clin/Prof Gareth Baynam, for speaking.

We also thank the RVA Ambassadors who joined us—Andrew, Diane, Archie, Lucy, Lauren and Ryan—and RVA Partner group/organisation representatives. We understand travelling to Canberra isn’t always easy, but your efforts make all the difference.

Parliamentary and Departmental Meetings 

While in Canberra, Louise Healy, RVA’s Education and Advocacy Manager, and I attended several meetings. We met with Minister Butler, Dr Freelander, Dr Ryan, several teams within the Department of Health, Disability and Ageing and the Deputy Chair of the Pharmaceutical Benefits Advisory Committee (PBAC). Post Canberra, we also met virtually with an advisor from Senator the Hon Jenny McAllister’s office, Minister for the NDIS and Senator for New South Wales.

These meetings covered a wide range of rare disease-related issues, including the development of Rare Disease Centres of Expertise, health technology assessment reform, rare disease disability reform and rare disease research funding.

Western Australian Parliamentary Friends of Rare Diseases: Rare Disease Day Parliamentary Event 

On 10 March, I was pleased to attend a Rare Disease Day Parliamentary Event hosted by The Parliamentary Friends of Rare Diseases (the Parliamentary Friends) in Western Australia (WA). It was great to catch up with several WA-based RVA team members and RVA Partner group/organisation representatives. Attendees heard speeches from WA Premier, the Hon Roger Cook MLA, as well as SMAC member, Clin/Prof Gareth Baynam, and people with lived experience of rare disease, including RVA Ambassador, Ryan Zilioli.

RVA thanks the Parliamentary Friends—Convenor, Hon Klasey Hirst MLC and Deputy Convenors, Adam Hort MLA and Stephen Pratt MLA—for their ongoing support of RVA and Western Australians living with a rare disease.

Disability Representative and Carers Organisations (DRCO) Membership Working Group Update

The National Disability Insurance Agency (NDIA) has confirmed that RVA meets the membership criteria for the Disability Representative and Carers Organisations (DRCO) Membership Working Group. DRCOs work closely with the NDIA on reforms, changes and improvements to the NDIS. RVA will participate 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.

Update: Banning Genetic Discrimination in Life Insurance

A bill that would ban life insurers from discriminating against Australians based on genetic test results passed through the House of Representatives in parliament last week. The bill must now pass through the Senate. If enacted, the law will not come into force for six months. Congratulations to RVA SMAC member, Dr Jane Tiller, who has been leading this work! We also acknowledge SMAC member Professor Paul Lacaze’s contribution.

Congratulations to the Rare Care Centre

Congratulations to SMAC member, Clin/Prof Gareth Baynam, and the team at the Rare Care Centre for being awarded Gold in the Diversity and Inclusion in Creative Communications category for The Weight of Rare Disease animation by The PM Society. Watch the video and see the other rare disease resources for educators at the Global Nursing Network for Rare Diseases website.

Additionally, congratulations to Gareth for co-authoring a paper that was quoted on the front cover of volume 407 of The Lancet. Read Language in rare disease: a call for systemic and empathetic action.

Finally, happy Easter to those who celebrate, and I hope you all enjoy the short break.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Rosa shares her experience moving to Australia to access healthcare after being diagnosed with a rare disease. Her story highlights the importance of equity. Rosa shares, "Australia did not cure my Paroxysmal Nocturnal Hemoglobinuria (PNH), but it gave me access to treatment—and with that, the ability to plan, to study, to build and to continue. Disease may be rare, but access to care should not be."

Highlights: Rare Disease Day Parliamentary Event

Thank you to everyone who attended RVA's Rare Disease Day Parliamentary Event on 2 March 2026. Hosted by the Parliamentary Friends of Australians Living with a Rare Disease, a key aim of Rare Disease Day is to raise awareness among policymakers. The event theme was Equity for People Living with a Rare Disease, which provided the perfect opportunity to launch the first round of resources for the nationally codesigned Rare Disease Disability Toolkit, which is available at RVA’s website (more information is also included below).

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

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.

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.

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’s Chief Executive Officer, Nicole Millis, was featured in the podcast You, Me & Rare Diseases hosted by Leanne. Leanne is a disability advocate through her community radio show, podcasts, and blogs. Leanne lives with Limb Girdle Muscular Dystrophy. In the episode, Nicole shares more about RVA's systemic advocacy, our multistakeholder collaborative approach and more. The full episode is available on YouTube and Spotify.

The Australian Government has launched a refreshed National Strategic Framework for Chronic Conditions 2026–35 (the Framework) alongside $110 million over three years delivered through a new Chronic Conditions Prevention and Integrated Care Grants Program. Read the media release at the Department of Health, Disability and Ageing's website.

The purpose of the Framework is to guide the development and prioritisation of policies, strategies, actions, and services to address chronic conditions in Australia. The Framework identifies rare diseases as a type of chronic condition and acknowledges that not all chronic conditions are preventable. Download the Framework at the Department of Health, Disability and Ageing's website.

As the national peak body for Australians living with a rare disease, RVA looks forward to working with the government to ensure the Framework’s principles and focus areas are implemented to work towards the best outcomes for Australians living with a rare disease.

The Medicines Repurposing Program (MRP) is administered by the Department of Health, Disability and Ageing and managed by the Therapeutic Goods Administration (TGA). The MRP aims to improve patient access to medicines in Australia by identifying new indications for existing medicines. It does this by offering fee waivers for regulatory assessment by the TGA and fee waivers for consideration of subsidy by the Pharmaceutical Benefits Advisory Committee (PBAC) for listing on the Pharmaceutical Benefits Scheme (PBS) where possible. The MRP will close for nominations on 30 April 2026. The closing date allows for incoming nominations to be assessed by the MRP, prior to cessation of program funding on 30 June 2027. More information is available at the Department of Health, Disability and Ageing’s website.

The Consumer Evidence and Engagement Unit (CEEU) is developing a framework to guide how consumers are engaged across health technology assessment (HTA) processes in Australia. The framework outlines why consumer engagement matters, the principles that guide it, and how consumers can be involved across different stages of HTA.

The CEEU is inviting consumers (patients, carers, family members) and consumer organisations to join a webinar to learn more about the framework and share their views. During the webinar, a short overview of the framework will be provided, alongside an explanation of how it will be applied in practice and next steps. The webinar will be recorded for those unable to attend. There will also be time for questions and discussion so attendees can share their thoughts and experiences.

Webinar Details

Date: Wednesday, 22 April 2026

Time: 12:00pm - 1:00pm AEST

Registration: Complete the registration form by Monday, 13 April 2026  

In December 2025, the Department of Health, Disability and Ageing (the Department) commenced public consultation on the evaluation of the Medical Research Future Fund (MRFF) Research Missions Program. Findings from the evaluation will inform a public report and guide future program direction and investment. RVA is concerned that the newly announced round of the Genomics Health Futures Mission (GHFM) grant scheme does not explicitly reference or adequately address rare diseases.

Rare Disease Research Funding Through the Missions Program

Based on RVA’s knowledge as the national peak body for Australians living with a rare disease and input from the Australian Rare Disease Research Network (ARDRN), rare diseases have primarily been represented through the GHFM. This is reflected in increased funding for rare disease projects linked to targeted genomic newborn screening initiatives. However, as stated, the newly announced round of the GHFM grant scheme does not explicitly reference or adequately address rare diseases. This further underscores the need for a dedicated Mission focused on non-oncological rare diseases as a key recommendation for the Missions Program moving forward. RVA will continue advocating for this unmet need to be addressed. Read more at RVA's website.

Research Australia, in collaboration with the National Centre for Epidemiology and Population Health at the Australian National University (ANU), has launched Australia’s first national recognition framework to support the consistent and equitable recognition of consumer contributions to health and medical research. The framework includes guidance on remuneration as well as non-financial forms of recognition.

As the national peak body for Australians living with a rare disease, RVA welcomes the release of the national recognition framework. Additionally, we congratulate Research Australia, ANU, and the consumers and researchers who contributed to its development. Read more at RVA's website.

Research Australia Webinar

Research Australia is hosting a member-exclusive webinar to delve deeper into the framework and the broader topic of consumer recognition in health and medical research alongside Associate Professor Jane Desborough from the National Centre for Epidemiology and Population Health at the Australian National University. The webinar will be held on Wednesday, 22 April 2026 between 1:00-2:00pm. Learn more and register via Eventbrite.

In February 2026, the World Economic Forum published a seminal white paper entitled, Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity (White Paper). The White Paper outlines a practical roadmap for improving how data is collected, shared and analysed, and provides policy-ready guidance to help governments, healthcare leaders, employers, investors, payers and the health industry translate the growing recognition of rare diseases into coordinated action. This work was a global effort including Australian expertise from RVA Scientific and Medical Advisory Committee member Clin/Prof Gareth Baynam. Read more about the White Paper at RVA's website.

The PRECISE Genomics in Primary Care hub is a dedicated platform providing general practitioners (GPs) with easy access to a range of evidence-based education resources crucial for delivering genetic care to individuals and families. It aims to help GPs recognise genetic conditions, test and refer appropriately, and rapidly upskill in genomics. The platform includes CPD-accredited learning opportunities. The project is funded by the Australian Government through the Medical Research Future Fund (MRFF). Resources were co-designed with Australian GPs, with input from consumers, to provide a comprehensive and practical guide for primary care. 

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

• Baraitser-Winter cerebrofrontofacial syndrome 

• Cervical dystonia 

• Idiopathic intracranial hypertension (IIH) 

• Klippel-Feil syndrome 

• Median arcuate ligament syndrome 

• Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL syndrome) 

• Sickle cell disease (co-designed with Australian Sickle Cell Advocacy Inc. and Thalassaemia and Sickle Cell Australia) 

• Spinal muscular atrophy (SMA) (co-designed with Spinal Muscular Atrophy Association of Australia and Professor Michelle Farrar, Professor of Paediatric Neurology at UNSW Sydney and specialist child neurologist at Sydney Children’s Hospital. Professor Farrar was a lead clinician on the SMA newborn bloodspot screening pilot program across NSW and the ACT). 

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 to address some of the most common questions RVA received while operating the RARE Helpline. The RARE Help page consists of resources that have been codesigned and evaluated by 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 

The European Organisation for Rare Diseases (EURORDIS – Rare Diseases Europe) is a non-profit alliance of over 1,000 rare disease consumer organisations from 77 countries, including Australia that work together to improve the lives of over 30 million people living with a rare disease in Europe. Recently, EURORDIS shared factsheets with RVA as the national peak body for Australians living with a rare disease presenting Australian findings from three Rare Barometer surveys. This is the first time there has been a sufficient number of Australian respondents to enable EURORDIS to report Rare Barometer findings specific to Australia in this way. RVA thanks everyone who contributed their input and encourages Australians to continue participating in future Rare Barometer surveys. These surveys are a useful way to build data that reflects the Australian context and is aligned with international evidence and momentum. Read more and download the factsheets at RVA's website.

Congratulations to SMAC member, Clin/Prof Gareth Baynam, and the team at the Clinical Centre of Expertise for Rare and Undiagnosed Diseases (the Rare Care Centre) for being awarded Gold in the Diversity and Inclusion in Creative Communications category for The Weight of Rare Disease animation by The PM Society. Watch the video and see the other rare disease resources for educators at the Global Nursing Network for Rare Diseases website.

GeneEQUAL has launched an Easy Read booklet about intellectual disability called Life with Intellectual Disability. Developed by people with intellectual disability, the booklet represents the voices, insights, strengths, and challenges of people with intellectual disability in their own words. This strengths-focused resource aims to support health care workers, educators, and other professionals to better understand and engage with people with intellectual disability. Read the booklet at GeneEQUAL’s website. An audio version is also available. GeneEQUAL is an inclusive research team at the University of New South Wales. 

The National Centre for Asbestos Related Diseases (NCARD) has launched a national survey to identify key research priorities for people affected by asbestos exposure and asbestos-related diseases. Individuals exposed to asbestos, carers, healthcare professionals, and advocates, are invited to participate in the survey. The survey will take about 10-15 minutes to complete, and responses will be anonymous. The survey will be open until 31 August 2026. Learn more and complete the survey at this webpage.