Hi RVA Supporter,

Welcome to Rare Voices Australia’s (RVA) special Rare Disease Day edition of eNews! Rare Disease Day is marked on the last day of February annually and is a globally coordinated movement. RVA holds our annual Parliamentary Event to mark Rare Disease Day, which has become one of the most anticipated days on the Australian rare disease calendar. We held our Parliamentary Event, hosted by the Parliamentary Friends of Australians Living with Rare Diseases, a little earlier than usual in 2025 on 11 February due to the limited Parliamentary Sitting Calendar. Despite how busy the week was in Canberra given it’s a Federal Election year, I’m pleased to say the 2025 Parliamentary Event was one of RVA’s most well attended gatherings. Over 100 guests joined us, including people living with a rare disease; parliamentarians; departmental staff; key peak bodies; researchers; clinicians; and industry. This is testament to the momentum gained by the rare disease sector in recent years. You can read the highlights and see more photos on RVA’s website.

The Importance of Federal Parliamentary Events 

Parliamentary Events are important as they enable stakeholders to meet and speak with parliamentarians to further highlight rare diseases. As we heard repeatedly from the parliamentarians who spoke at the event, their support of the rare disease community will continue regardless of the outcome of this year’s Federal Election. This multipartisan support is crucial to advocating for the best outcomes 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. The disability impacts of living with a rare disease often aren’t recognised by policymakers. An unprecedented number of Department of Health and Aged Care representatives also attended the Parliamentary Event. As I said at the 2024 National Rare Disease Summit, I feel this is testament to the ongoing credibility of the sector and efforts by RVA and other stakeholders to build and maintain key relationships.

Acknowledgements

RVA thanks the following parliamentarians who spoke at the Parliamentary Event:

• Hon Mark Butler MP, Minister for Health and Aged Care
• Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care
• Dr Mike Freelander MP, Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases and Member for Macarthur
• Dr Monique Ryan, Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases and Member for Kooyong
• Senator Wendy Askew, Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases and Senator for Tasmania

RVA also thanks Fiona Lawton, our Disability Advocacy Manager, for sharing her family’s story and her experience with rare disease disability advocacy. Thank you to Dr Tarun Weeramanthri AM, RVA’s new Chair, who took the opportunity to introduce himself to the sector and share his vision for RVA. We also thank all other stakeholders who attended the Parliamentary Event, particularly our RVA Partners (rare disease group/organisation representatives). Special thanks to the RVA Board Directors and Scientific and Medical Advisory Committee members who joined us.

Parliamentary Friends of Australians Living with Rare Diseases 

Given the upcoming 2025 Federal Election, the Parliamentary Event was the final gathering of the Parliamentary Friends of Australians Living with Rare Diseases in the 47^th Parliament. RVA will pursue its reformation post-election. Thank you to the Co-Chairs—Dr Freelander, Dr Ryan and Senator Askew—for their ongoing support of Australians living with a rare disease and RVA as the national peak body.

Rare Disease Day Illuminations and Acknowledgements

Several landmarks around Australia will be illuminating to mark Rare Disease Day. For the latest updates regarding the illuminations, see RVA’s website. RVA thanks the small group of volunteers who coordinated this year’s efforts with support from RVA as needed. Anyone can get involved in organising landmark illuminations, which are organised through contacts at individual landmark locations. For more information for future Rare Disease Day campaigns, download the building illuminations toolkit. RVA also thanks former RVA Ambassador, Tammie Rees, for her participation in the official Rare Disease Day campaign alongside her daughter Ava. In 2017, Ava was diagnosed with Maple Syrup Urine Disease. Visit the official Rare Disease Day website to download the campaign materials.

First Rare Voices Australia Partner Forum for 2025

RVA is hosting our first RVA Partner forum for 2025 on Friday 14 March from 12pm-1pm AEDT. All RVA Partner groups/organisations will be invited. These meetings provide RVA Partner representatives with the opportunity to get to know each other, share their learnings, insights, challenges and anything else that’s relevant to rare disease for discussion. RVA will distribute an email to RVA Partner groups/organisations next week with more information and the link to register.

2025-26 Pre-Budget Submission

In January, RVA was pleased to lodge our 2025-26 Pre-Budget Submission (the Submission) for the Treasurer’s consideration, which consisted of three asks:

• Investment into Rare Disease Centres of Expertise, which 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

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

• Peak body funding for RVA

These three requests align with the priorities, actions and implementation steps outlined in the Action Plan. Importantly, they would significantly accelerate its collaborative implementation, while also addressing gaps in workforce and systems capacity. RVA will meet soon with the Department of Health and Aged Care to discuss our pre-budget submission.

Board of Directors Update

We thank Kate Henderson who has resigned from the RVA Board for her contribution to RVA. Kate joined the RVA Board in April 2022 and was Chair of the Nomination, People and Culture Committee. We wish Kate all the best for the future.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Highlights: Rare Disease Day

Parliamentary Event

Thank you to those who attended RVA's Rare Disease Day Parliamentary Event hosted by the Parliamentary Friends of Australians Living with Rare Diseases on 11 February 2025. Over 100 guests, including people living with a rare disease; governments; key peak bodies; researchers; clinicians; and industry, joined us making the event one of RVA’s largest-ever Parliamentary Events. This is testament to the momentum gained by the rare disease sector in recent years. 

RVA thanks the Co-Chairs of the Parliamentary Friends of Australians Living with Rare Diseases who hosted the Parliamentary Event, our speakers, and the stakeholders who attended, particularly our RVA Partners (rare disease group/organisation representatives). Special thanks also to the RVA Board Directors and Scientific and Medical Advisory Committee members who joined us.

Personal Story of the Month and Speech from the Rare Disease Day Parliamentary Event

Fiona's Story

Fiona shared her personal story at the 2025 Rare Disease Day Parliamentary Event. She explained how her role as RVA's Disability Advocacy Manager was born from the need to tell the important and much-overlooked story of the intersection between rare disease and disabilities. Fiona also shared how she once counted 60 appointments between New Year and Easter and some of the progress made by RVA together with RVA Partner groups/organisations.

Official 2025 Rare Disease Day Video

RVA is hosting our first RVA Partner forum for 2025 on Friday 14 March from 12pm-1pm AEDT. All RVA Partner groups/organisations will be invited. These meetings provide RVA Partner representatives with the opportunity to share their learnings, insights, challenges and anything else that’s relevant to rare disease for discussion. RVA will distribute an email to RVA Partner groups/organisations next week with more information and the link to register.

Australia’s Health Ministers have agreed to add biotinidase deficiency as a target condition in Newborn Bloodspot Screening (NBS) programs nationally. States and territories will now prepare programs to implement screening for biotinidase deficiency. Additionally, Health Ministers agreed that nine other rare conditions will be listed as non-target conditions in Australia’s NBS programs. Read more on RVA's website.

The Department of Health and Aged Care (the DoH) has established a new web page on their website to provide information to stakeholders on the establishment of Genomics Australia. Visit the web page. The DoH will be using this web page to disseminate information in the lead up to establishing Genomics Australia on 1 July 2025.

On 4 February, Rare Diseases International advised that the World Health Assembly Resolution on Rare Diseases (the Resolution) has been formally submitted for consideration by the Executive Board. The draft resolution can be read on RDI’s website. The official submission follows three months of intense negotiations by the Member States to agree on the final text to submit. RDI stated that this represents two important milestones:

• 21 Member States from across all regions of the world have agreed to co-sponsor the Resolution: the Arab Republic of Egypt, Spain, Brazil, Chile, China, Ecuador, France, Iraq, Jordan, Kuwait, Luxembourg, Malaysia, Panama, Palestine, Pakistan, Philippines, Qatar, Romania, Somalia, Vanuatu and India

• Over 180 organisations came together from across the globe to form a Coalition in support of the Resolution

Follow RDI’s website and social media channels for the latest updates.

Researchers from the 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 also see the flyer (PDF) for more information.

The Murdoch Children's Research Institute (MCRI) is conducting the SOAR Study to help researchers and clinicians understand life for adults with RASopathies like Noonan Syndrome and Neurofibromatosis Type 1 (NF1). The online questionnaires ask participants about their physical and mental health and quality of life. Adults aged between 18 to 65 with a RASopathy living in Australia or the United Kingdom are eligible to participate. Participation may take up to two hours across two sets of questionnaires. You may choose to complete one or both sets. To learn more and participate, visit MCRI’s website.

The measurement of quality of life is essential for healthcare decision making. It is unknown whether currently available quality of life measures accurately capture the lived experience of people with rare genetic conditions. This may mean that people with rare genetic conditions are not able to access healthcare for which they should be eligible. Researchers have developed a survey to assess whether currently available questionnaires are able to distinguish differences in quality of life. If you have a rare genetic condition, or you are the parent/carer of a child or adult with a rare genetic condition, the research team invites you to participate in this survey. The survey should take between 15-20 minutes to complete. Learn more via this web page.

RVA Online Education Portal 

RVA's Online Education Portal complements the workshops, webinars and customised mentoring support provided to RVA Partner groups/organisations through our Education Program. Available 24/7, the site contains several free and restricted resources. Learn more about RVA's Online Education Portal and register now if you haven't already. 

Note: You will need to register to access the courses if you haven't already.

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.

The RARE Helpline:

• Supports people to connect with existing information that is reliable

• Provides resources that respond to people’s specific needs

• Helps to increase people’s health literacy and engagement with care and support services

• Assists in connecting people with existing health services and/or professionals where possible

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

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