Hi RVA Supporter,

Almost 20 years ago, I had to fight for my son to access a treatment that had already been available overseas for a few years but not in Australia. Today, Australians living with a rare disease still face delays in accessing emerging treatments. We need to act now.

So many of our RVA Partner groups/organisations are fighting for clinical trials, yet some pharmaceutical companies continue avoiding running clinical trials in Australia because they think our health technology assessment (HTA) processes are too difficult. If you are a true rare disease advocate, supporting HTA reform is a must.

The rare disease sector has contributed constructively and diligently to the HTA Review, the Enhance HTA consultation, and the HTA Implementation Advisory Group’s roadmap for implementing recommendations. It is urgent that implementation progresses now.

The HTA Review presents the strongest opportunity to address the systemic inequity experienced by Australians living with a rare disease in accessing therapies. We encourage RVA Partner groups/organisations and other stakeholders to proactively advocate for HTA reform by contacting their federal representatives. We need to act right now, so we can influence the government’s Mid-Year Economic and Fiscal Outlook (MYEFO).

RVA has developed letter writing guides with key messages and distributed them to all RVA Partner groups/organisations. We urge all stakeholders to take every opportunity to inform policymakers about the need for HTA reform. Without coordinated advocacy across multiple channels from all stakeholders, RVA remains concerned that HTA reform may stall. We encourage everyone to advocate with us. You can read about the actions RVA has undertaken regarding HTA since the 2026-27 Federal Budget was announced in May at RVA’s website.

My Appointment to the Rare Diseases International Council

Earlier this month, I was honoured to be appointed to the Rare Diseases International (RDI) Council. RDI is the global alliance for people living with a rare disease. The RDI Council is the governing body that shapes RDI’s strategic direction and strengthens its commitment to people living with a rare disease globally.

Given the World Health Organization’s impending 10-year global action plan on rare diseases, I believe we’re at an important inflection point. We have a significant opportunity to improve equity for the estimated 300 million people living with a rare disease around the world. I look forward to contributing to the global rare disease community and RDI’s vision as a council director. Congratulations to Monica Ferrie, Ritu Jain, and Parvathy Raman Krishnan, who have now completed their mandate as RDI Council directors.

Published: ‘Writing a Letter of Support for Rare Disease Disability’ for Health Professionals

RVA is excited to launch another resource for the nationally codesigned Rare Disease Disability Toolkit (the Toolkit). Writing a Letter of Support for Rare Disease Disability is a guidance document intended to support health professionals in preparing clear, relevant evidence for individuals with rare disease disability applying to the National Disability Insurance Scheme (NDIS). Download the PDF and other NDIS-related Toolkit resources at RVA’s website.

The Toolkit is being codesigned with people living with rare disease disability and is facilitated by RVA. It is funded by the Australian Government through the Peer Support and Capacity Building grant for the NDIS as part of the Rare Disease Disability Project, which continues until December 2026.

RVA Board Update

RVA welcomes John Scro to the RVA Board of Directors! John is a chartered accountant with over 20 years’ experience in tax, financial governance and risk management across professional services and ASX-listed companies in Australia. Read John’s full bio in the article below.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Janette’s story highlights the importance of diagnosis and awareness about rare diseases. It also explores how a rare disease diagnosis can be life-changing, including for family members.

Progressing health technology assessment (HTA) reform remains a high priority for RVA. Current HTA processes are not fit for purpose when assessing rare disease therapies. Australians living with a rare disease continue to experience delays in accessing emerging treatments or are unable to access therapies already subsidised for people with more common conditions.

The rare disease sector has contributed constructively and diligently to the HTA Review, the Enhance HTA consultation, and the HTA Implementation Advisory Group’s roadmap for implementing recommendations. It is urgent that implementation progresses now.

Since the 2026-27 Federal Budget was announced in May, RVA has taken several actions, including encouraging RVA Partner groups/organisations and other stakeholders to proactively advocate for HTA reform. Read the actions undertaken at RVA's website.

RVA is excited to launch another resource for the nationally codesigned Rare Disease Disability Toolkit (the Toolkit). Writing a Letter of Support for Rare Disease Disability is a guidance document intended to support health professionals in preparing clear, relevant evidence for individuals with rare disease disability applying to the National Disability Insurance Scheme (NDIS) for either:

• NDIS Access
  

• Ongoing NDIS eligibility, or
  

• Assessment of NDIS Supports.
  

This resource is a companion to NDIS and Rare Disease Disability – Part 1: Access and Eligibility, which explains key eligibility concepts, legislative context, and frequently used NDIS terminology. Download the PDF and other NDIS-related Toolkit resources at RVA’s website.

The National Disability Insurance Scheme is introducing the new Support Needs Assessment. It will help decide a participant’s funding and supports. People with rare disease disability can take part in paid testing. This helps to make sure the assessment:

• Works for complex, multi-system conditions, and 
• People with high or changing support needs.

If you take part in the testing, RVA is asking you to let us know. Read more about why and the testing opportunities at RVA’s website.

RVA continues to advocate for Australians living with rare disease disability. Between April and July 2026, our work included disability reform discussions, National Disability Insurance Scheme consultations, health and disability initiatives, research activities, and leadership forums across the sector. Read the full update at RVA's website.

RVA welcomes John Scro to the RVA Board. John is a chartered accountant with over 20 years’ experience in tax, financial governance and risk management across professional services and ASX-listed companies in Australia. He is a member of the Institute of Chartered Accountants Australia and New Zealand, and a member of the Tax Institute of Australia. John began his career in professional services before moving in-house, holding senior tax leadership roles at several Australian headquartered companies. John brings his expertise to the RVA Board, to support the organisation in continuing to advocate for and support Australians living with a rare disease.

RVA's Chief Executive Officer, Nicole Millis, is honoured to be appointed to the Rare Diseases International (RDI) Council. The RDI Council is the governing body that shapes RDI’s strategic direction and strengthens its commitment to people living with a rare disease globally.

Upon being appointed, Nicole said, “With WHO’s [World Health Organization] impending 10-year global action plan on rare diseases, I believe the global rare disease community is at an important inflection point, with a significant opportunity to improve equity.”

RVA congratulates Kirsten Johnson (Fragile X International) who has been re-elected to the Council and Trudy Nyakambangwe (Rare Disorders Zimbabwe) who is a new director. We also extend our congratulations to the Council directors who have now completed their mandate.

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. Save the date emails have been sent, and we have begun distributing the formal invitations.

EURORDIS has released the findings from its Rare Barometer survey on the mental health impacts of living with a rare disease. The findings highlight the severe and widespread unmet need for psychological support for people living with a rare disease and reinforce the need for mental health to be recognised as a core component of rare disease care. 

As the national peak body for Australians living with a rare disease, RVA is pleased to share the Australian findings from this survey. The findings are based on the experiences of 125 Australian participants living with a rare disease and their families in 2025. We thank EURORDIS for sharing the Australian data and factsheet. Learn more and download the factsheet at RVA's website.

Researchers at the University of Sydney are interested in understanding the preferences that individuals, their families/carers and the general public have regarding different aspects of high upfront cost gene therapies. Adults with haemophilia A and B (Factor VIII or Factor IX deficiency), beta thalassemia or sickle cell disease and/or their immediate family members/carers are invited to participate in this study. The study involves an online survey, which takes about 20 minutes to complete. To participate and learn more about this study, visit this webpage.

For more information about things to consider before participating in health and medical research, please visit the Considerations for Participating in Health and Medical Research page on the RARE Portal.

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 2026 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

• ADCY5-related movement disorder 

• Argininosuccinic aciduria 

• Carnitine uptake deficiency 

• Carnitine palmitoyltransferase I (CPT I) deficiency 

• Carnitine palmitoyltransferase II (CPT II) deficiency 

• Dravet syndrome

• Fragile X- associated conditions (Group of conditions)  (co-developed with Fragile X Association of Australia) 

• Polyneuropathy associated with IgM monoclonal gammopathy 

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. 

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).

Resources:

• New: Guidance: Writing a Letter of Support for Rare Disease Disability – Health Professionals 

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

• Reasonable Adjustments in Healthcare: What Can I Ask For?

• 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. 

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.

Course of the Month

Insights for Health Professionals: Supporting the Mental Health and Wellbeing of People Living with a Rare Disease

This course is designed for health professionals to build awareness of the impact of rare diseases on mental health, and includes practical resources for your practice.

This course has been developed by RVA and the University of New South Wales, with input from MindSpot, people living with rare diseases, and general practitioners with experience supporting people living with a rare disease.

The course should take about 1 hour to complete.

This course is an RACGP-approved Continuing Professional Development (CPD) activity.