Hi RVA Supporter,

In March eNews, I shared that RVA is leading the 2-year Rare Disease Disability Project (the Project), which concludes in December 2026. We are proudly delivering projects for the Peer Support and Capacity Building grant for the National Disability Insurance Scheme (NDIS). 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, including Aboriginal and Torres Strait Islander people; culturally and linguistically diverse communities; people living in regional, rural and remote areas; and other groups. Expressions of interest (EOI) have now closed for the SRG, and we will be appointing members shortly. Thank you to everyone who lodged an EOI.

As part of the Project, RVA will be facilitating virtual kitchen table peer support sessions. The first of these sessions are being held on Thursday, 22 May. One session will be held for people living with rare disease disability and another session will be held for caregivers of people living with rare disease disability. The topic for these initial sessions is Rare Disease Disability Resources: What’s Working? What’s Missing? Come and share the resources and strategies you use to navigate rare disease disability needs in health, education, housing, employment and the NDIS. Share ideas, learn from others and connect through this peer support session. Register below. Please send any questions you have about the virtual kitchen table peer support sessions or the Project to: disabilityprojects@rarevoices.org.au.

Register for the session for people living with rare disease disability (11am - 1pm AEST)

Register for the session for caregivers of people living with rare disease disability (2pm - 4pm AEST) 

Health Technology Assessment Review Findings and Recommendations

As many of you will be aware, I am a member of the Health Technology Assessment (HTA) Implementation Advisory Group (IAG). The IAG is helping to guide critical reforms in response to the findings and recommendations of the HTA Review Report. This work is progressing well with our first in-person meeting being held this month (the previous 2 meetings were virtual). It was great seeing so many of the rare disease community at the recent consumer webinar. Another webinar is anticipated to be held soon. More information about the IAG, including Communiques from the IAG, can be found on the Department of Health and Aged Care’s website. I know there has been much consumer engagement in HTA issues in recent times through the recent HTA Policy and Methods Review and the Enhanced Consumer Engagement Process, but also via The New Frontier - Delivering better health for all Australians report and Conversations for Change work. I am seeing first-hand how all of this consumer input is contributing and informing the work of the IAG.

Rare Disease Research Priority Setting Partnership Project Update

In April, RVA and The Kids Research Institute Australia (formerly Telethon Kids Institute) facilitated workshops for consumers and health professionals as part of the Rare Disease Research Priority Setting Partnership Project (the Project). The Project aims to identify and prioritise the 10 most important unanswered research questions for the future of rare disease research in Australia. The findings of this important work will be published and shared with all stakeholders in the rare disease sector. Thank you to everyone who has contributed to the Project throughout its various phases, including through surveys, the workshops, the Project’s Steering Committee and Consumer Advisory Group, and RVA’s Scientific and Medical Advisory Committee.

Congratulations to John Forman

RVA congratulates former Chair, John Forman, who was honoured by Rare Disorders NZ with a Lifetime Achievement Award in February. The awards recognise people who have spearheaded significant initiatives for rare conditions. We thank John for his invaluable contribution to the rare disease sector over the years.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Claudette’s story highlights the importance of early diagnosis and the long-term impacts of living with a rare disease. 

As part of the Rare Disease Disability Project (the Project), RVA is facilitating virtual kitchen table peer support sessions. One session will be held for people living with rare disease disability and a separate session will be held for caregivers of people living with rare disease disability.

Session Details

Date: Thursday, 22 May 2025

Registration

Session for people living with rare disease disability (11am - 1pm AEST)

Session for caregivers of people living with rare disease disability (2pm - 4pm AEST)

The topic for these initial sessions is Rare Disease Disability Resources: What’s Working? What’s Missing? Come and share the resources and strategies you use to navigate rare disease disability needs in health, education, housing, employment, and the National Disability Insurance Scheme. Share ideas, learn from others and connect through this peer support session. Please send any questions you may have about the virtual kitchen table peer support sessions or the Project to: disabilityprojects@rarevoices.org.au. 

The revised National Statement on Ethical Conduct in Human Research 2025 (National Statement) was published on 6 March 2025. The 2025 National Statement will take effect, and replace the 2023 National Statement, from 1 October 2025. RVA would like to congratulate the National Health and Medical Research Council on their work to revise and strengthen the National Statement based on stakeholder feedback, including from RVA as the national peak body for Australians living with a rare disease. See RVA's website for details about the input provided that was incorporated into the 2025 National Statement.

Researchers at the Garvan Institute of Medical Research (Garvan) have launched the Genomics of Rare Disease Registry to help improve diagnoses and treatment options for Australians living with a rare disease. The registry is recruiting Australians with a known or suspected rare genetic disease as part of a national study focused on understanding their underlying cause, and is led by Associate Professor Jodie Ingles and Associate Professor Owen Siggs, Co-Directors of the Genomics and Inherited Disease Program at Garvan. Learn more about this study and express your interest to join the registry via this web page.

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:

• Duchenne Muscular Dystrophy (DMD) (co-developed with RVA Partner, Save Our Sons Duchenne Foundation)
• Ehlers-Danlos syndromes (EDS) (Group of Conditions) (co-developed with RVA Partner Connective Tissue Disorders Network Australia (CTDNA), and a lived experience expert)
• Spinocerebellar Ataxias (Group of Conditions) 

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