Hi RVA Supporter,

The importance of partnership, trust and persistence. I ended my closing remarks at the recent 2024 National Rare Disease Summit (the Summit) with these words because they perfectly capture the Summit and rare disease advocacy more broadly. I always feel taken aback at the Summit by the amount of energy, buzz, goodwill, connection, comraderie and connection in the room over the course of the two days and this year’s Summit was no exception. Thank you to everyone who joined Rare Voices Australia (RVA) in Brisbane and contributed to making the Summit a success.

What Attendees Said About the Summit

"Thank you for a wonderful day yesterday and congratulations on a fantastic event." – RVA Partner (rare disease group/organisation representative)

“…The meeting was a stark reminder that so much of the care and progress for people with rare diseases comes from ridiculously dedicated people who push no matter what, including fighting against inflexible and outdated systems." – Clinician/Researcher

“I learned so much about rare diseases, the research and collaboration that's going on and the patient and persistent advocacy.” – Industry

The Summit brings together the rare disease sector and I’ve highlighted only a few people’s feedback above. Thank you to the diverse range of speakers who shared their expertise and perspectives so generously, particularly RVA Ambassador Ryan Brown who shared his personal story. Special thanks to our other RVA Ambassadors who also joined us in person. Additionally, RVA thanks Senator Wendy Askew, Co-Chair, Parliamentary Friends of Rare Diseases (the Parliamentary Friends) and Senator for Tasmania, who joined us in person at the Summit and spoke on behalf of the Parliamentary Friends. We also thank the Hon Mark Butler MP, Minister for Health and Aged Care, and Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care, who were unable to join us in person but provided recorded messages.

A point of difference with the 2024 Summit was the unprecedented number of Department of Health and Aged Care (DoH) and National Disability Insurance Agency representatives in attendance. As I mentioned in my opening speech, I feel this is testament to the ongoing maturity of the sector and efforts by RVA and other stakeholders to build and maintain key relationships. Read about the Summit in more detail, watch Minister Butler and Senator Ruston’s videos, and see a selection of photos on RVA’s website.

2025-27 Rare Voices Australia Ambassador Program

Many of you will have heard from and spoken with our incredible inaugural RVA Ambassadors at several RVA events. Initially, RVA launched our Ambassador Program to coincide with our 10th anniversary in 2022 and the initiative has continued due to popular demand. The RVA Ambassador Program provides people living with a rare disease and those with professional experience of working with rare diseases with the opportunity to share their experiences with the broader rare disease sector.

To continue promoting diversity and showcasing the breadth of rare diseases and people’s unique stories, we will be refreshing our RVA Ambassador Program in 2025 through an expression of interest (EOI) process. We’re keen to hear from a broad range of Australians living with a rare disease, including carers; family members; those living with an undiagnosed rare condition; bereaved parents; people living with a disability; and so on. Learn more about what’s involved in being an RVA Ambassador and how to lodge an EOI via RVA’s website.

A big thank you to our inaugural ambassadors for their invaluable contributions: Katie Alexander; Andrew Bannister; Lachy Beckett; Ryan Brown; Ebony Callaghan; Nathan Charles; Tim Fulton; Tammie Rees; Beck Webber; and Renae Wood. At RVA, we never underestimate the difficulty of sharing personal experiences and you have all shared your stories so powerfully and been so generous with your time, effort and energy. We wish you all the best.

Rare Disease Expertise on the Health Technology Assessment Policy and Methods Review Recommendations Implementation Group

I am pleased to accept an additional consumer role on the newly announced Implementation Advisory Group (IAG) for the Health Technology Assessment Review Report following an expression of interest process. The IAG will be chaired by renowned cardiologist and former Chair of the Pharmaceutical Benefits Advisory Committee, Professor Andrew Wilson. Read Minister Butler’s media release on the DoH’s website.

RVA called for both the formation of the IAG and for rare disease expertise to be on the IAG. Two members have been appointed to represent consumer interests – one with expertise in rare diseases and the other with expertise in more common diseases. Congratulations to my fellow appointees and I look forward to working with you all.

Congratulations to Dr Jane Tiller!

RVA congratulates Dr Jane Tiller who won the Advocacy Award at Research Australia’s Health & Medical Research Awards this month for her work on genetic discrimination in life insurance. We also acknowledge Professor Paul Lacaze’s contribution to this important work. Dr Tiller and Professor Lacaze are both members of RVA’s Scientific and Medical Advisory Committee (SMAC).

In September this year, the Australian Government announced that it will legislate to completely ban the use of genetic test results in life insurance underwriting in line with recommendations of a report authored by Dr Tiller and Professor Lacaze. RVA will update stakeholders once the legislation has been drafted and implemented and is proud to have played a role in this important work via our Research Partnerships Program and ongoing advocacy.

2025 Rare Disease Day Parliamentary Event

The official 2025 Rare Disease Day video was released on 20 November, 100 days out from Rare Disease Day, to launch next year’s campaign. Rare Disease Day is marked on the last day of February annually. Hosted by the Parliamentary Friends of Australians Living with Rare Diseases, RVA is organising our annual Federal Parliamentary Event on Tuesday, 11 February 2025 to mark Rare Disease Day.

Parliamentary Events provide stakeholders with the opportunity to meet and speak with politicians to further highlight rare diseases and continue building on the momentum already generated to accelerate progress beyond policy. Enabling politicians to gain a better understanding and awareness about rare diseases is even more important as we head into a Federal Election year in 2025. Numbers are strictly limited, so attendance is by invitation to ensure stakeholder balance. Save the date emails have been distributed to those invited and formal invitations will be sent in early 2025.

RVA Board of Director Updates

At our November annual general meeting, RVA’s Board of Directors farewelled Dr Carol Wicking and Professor Eric Morand. Thank you both for your invaluable contributions to RVA. Many of you will be aware that prior to being appointed RVA Chair, Carol was Chair of our SMAC and had been a member of SMAC since its inception. Thank you, Carol, for your ongoing support of RVA, the rare disease sector and me personally throughout the years. We wish you all the best.

RVA is pleased to welcome Dr Tarun Weeramanthri AM as our newly appointed Chair. Tarun will be known to many of you in the rare disease sector. He is incredibly well credentialed with previous appointments as Western Australia’s Chief Health Officer from 2008 to 2018 and having recently completed a four-year term as President of the Public Health Association of Australia. I know Tarun is incredibly excited and keen to join the RVA Board of Directors, and I look forward to working with him in 2025 and beyond. You can read Tarun’s full bio below in the newsletter and learn more about our Board of Director’s on RVA’s website.

As 2024 comes to an end, I’d like to acknowledge and thank the whole RVA team for their continued hard work and support – the RVA Board, our SMAC, volunteers and especially my staff who exhibit such expertise, knowledge, persistence and good humour.

Wishing Everyone a Restful Holiday Break

As this is RVA’s final newsletter for the year, Merry Christmas to those who celebrate! I wish everyone a safe and wonderful start to 2025. It’s been another busy year for all rare disease stakeholders, and I hope you have a chance to rest and recharge over the holiday break. While there is always more work to do, it’s important to reflect on and celebrate what’s been achieved.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

RVA'S Chief Executive Officer, Nicole Millis, is pleased to accept an additional consumer role on the recently announced Implementation Advisory Group (IAG) for the Health Technology Assessment (HTA) Review Report following an expression of interest process. The Hon Mark Butler MP, Minister for Health and Aged Care, announced the IAG while delivering a speech at Parliament House. Read the Minister’s full speech on the Department of Health and Aged Care’s website.

The IAG will be chaired by renowned cardiologist and former Chair of the Pharmaceutical Benefits Advisory Committee, Professor Andrew Wilson. Two members have been appointed to represent consumer interests – one with expertise in rare diseases and the other with expertise in more common diseases.

RVA congratulates Professor Wilson and the other IAG members on their appointment:

• Dr Lorraine Anderson – Medical Director, Kimberley Aboriginal Medical Services (clinical representative)
• Dr Richard Mitchell – Head of Clinical Services, Kids Cancer Centre (clinical representative)
• Kirsten Pilatti – Chief Executive Officer, Breast Cancer Network Australia (consumer representative)
• Elizabeth de Somer – Chief Executive Officer, Medicines Australia (industry representative)
• Anne Harris – Deputy Chair, Medicines Australia Board (industry representative)

On 15 November 2024, the Australian Government announced it will establish a new national body to provide leadership, coordination and expertise to enable all Australians to reap the benefits of genomic research and technologies. Read the media release on the Department of Health and Aged Care’s website.

As the national peak body for Australians living with a rare disease, RVA welcomes the inception of Genomics Australia, which the media release states will “…help fight cancers, rare diseases and deliver better health outcomes for Australians.” The media release adds that Genomics Australia will work with states and territories to implement an updated National Health Genomics Policy Framework. Genomics Australia will sit within the Department of Health and Aged Care, with a Commissioner who will provide expert advice to government on health genomics.

In November, RVA focused our disability advocacy efforts on the future pricing framework of the National Disability Insurance Scheme (NDIS). This work included extensive consultation with and lodging a Submission to the Independent Health and Aged Care Pricing Authority (IHACPA), which has been tasked with advising the Australian Government on options for the future operation of NDIS pricing. This pricing framework will play a pivotal role in ensuring the sustainability, equity, and effectiveness of the NDIS. Read the full November rare disease disability advocacy update on RVA's website.

RVA is pleased to welcome our new Chair, Dr Tarun Weeramanthri AM, to RVA's Board of Directors! Tarun is a public health physician and experienced administrator. He serves on the Australian Institute of Health and Welfare Board, is deputy Chair of the PathWest Board, and recently completed a four-year term as President of the Public Health Association of Australia. As Chief Health Officer in Western Australia (WA) from 2008 to 2018, he oversaw the Office of Population Health Genomics, and the development of the first WA Rare Diseases Strategic Framework (2015-2018). He developed a strong appreciation of the importance of consumer, carer and civil society organisations in rare disease advocacy, and encouraged colleagues nationally and internationally to see rare diseases as an important public health issue. As a member of the RVA Board, he is looking forward to hearing directly the voices of people living with rare diseases, contributing to good governance, and promoting innovative rare disease policy. The ultimate goal being improved health care access, and a closing of the gap between research and better patient and carer experiences and outcomes.

Highlights: 2024 National Rare Disease Summit 

The Importance of Lived Experience and
A Person-Centred Approach

We thank RVA Ambassador, Ryan Brown, who shared his personal story as part of the opening session at the Summit. Ryan spoke about living with Hennekam Syndrome, including living in Bundaberg, a regional hub in the wide bay region of Queensland. He shared his mother's struggles with trying to get answers for her family and how he has just finished studying lymphatic development and regeneration, which he hopes will make a difference to others living with Hennekam Syndrome. Ryan has also previously shared his personal story on RVA's website.

Thanks to Those Who Attended the 
2024 National Rare Disease Summit

Thank you to everyone who joined RVA for the 2024 National Rare Disease Summit (the Summit) on 15 and 16 November in Brisbane. The Summit brings together the rare disease sector – thank you all for making this year’s Summit a success! We especially thank our diverse range of speakers who shared their expertise and perspectives so generously.

As with all RVA events, the Summit was a fantastic opportunity to progress the collaborative implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). Implementation of the Action Plan requires ongoing collaboration and support from the entire rare disease sector to achieve its vision: The best possible health and wellbeing outcomes for Australians living with a rare disease.

Celebrating Our Inaugural RVA Ambassadors 

RVA first introduced our RVA Ambassador Program in 2022 to celebrate 10 years of rare disease advocacy and continued the initiative due to popular demand. At various RVA events, we have heard consistently from all stakeholders how valuable it has been to hear so many unique and diverse stories of living with a rare disease.

Thank you to our inaugural ambassadors, listed below, for their invaluable contributions since being appointed official RVA Ambassadors.

• Katie Alexander

• Andrew Bannister

• Lachy Beckett 

• Ryan Brown

• Ebony Callaghan

• Nathan Charles

• Tim Fulton

• Tammie Rees

• Beck Webber

• Renae Wood

 Calling for Expressions of Interest
for the 2025-27 RVA Ambassador Program

To continue promoting diversity and showcasing the breadth of rare diseases and people’s unique stories, RVA will be refreshing our RVA Ambassador Program in 2025 through an expression of interest process. We’re keen to hear from a broad range of Australians living with a rare disease, including carers; family members; those living with an undiagnosed rare condition; bereaved parents; people living with a disability; and so on. Please note: This is a volunteer role and RVA does not have funding to provide remuneration to RVA Ambassadors. Learn more about the 2025-27 RVA Ambassador Program via RVA’s website.

The official 2025 Rare Disease Day video was launched on 20 November, 100 days out from Rare Disease Day, to launch next year’s campaign. Rare Disease Day is marked on the last day of February annually. In 2025, Rare Disease Day falls on 28 February. The 2025 Rare Disease Day video showcases people living with a range of rare diseases from all around the world, including RVA Ambassador, Tammie Rees, and her daughter Ava who lives with Maple Syrup Urine Disease, a rare metabolic disease. Watch the video below and download the campaign materials via the official Rare Disease Day website. You can also submit any upcoming Rare Disease Day events via this page.

As the national peak body for Australians living with a rare disease, RVA is the national alliance representing Australia in annual Rare Disease Day preparations. We are also on the Rare Disease Day Steering Committee, which takes a longer-term strategic view of the campaign.

Hosted by the Parliamentary Friends of Australians Living with Rare Diseases, RVA is organising our annual Federal Parliamentary Event on Tuesday, 11 February 2025 to mark Rare Disease Day. Parliamentary Events provide stakeholders with the opportunity to meet and speak with politicians to further highlight rare diseases and continue building on the momentum already generated to accelerate progress beyond policy. Enabling politicians to gain a better understanding and awareness about rare diseases is even more important as we head into a Federal Election year in 2025. Numbers are strictly limited, so attendance is by invitation to ensure stakeholder balance. Save the date emails have been distributed to those invited and formal invitations will be sent in early 2025. 

Official 2025 Rare Disease Day Video

The Sawatzky Cup tennis tournament, presented by Zarraffas Coffee Currambine, will be played on the grass courts of Alexander Park Tennis Club in Western Australia on Saturday, January 11 2025. The Sawatzky Cup is a single-day doubles tennis event (men and women) named after Perth player and the much-loved Ross Sawatzky, a tennis stalwart who died in early 2020 at 48 from the rare autoimmune disease, hemophagocytic lymphohistiocytosis (HLH). Visit the official Sawatzky Cup website for the latest news and updates. In 2025, funds raised from the tournament will be donated to RVA, which will help us to continue overseeing the collaborative implementation of the National Strategic Action Plan for Rare Disease, and contribute to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease. You can make a donation via RVA's website.

Image credit: Scotty's Media

New fact sheets are available to support the implementation of the Australian Framework for National Clinical Quality Registries 2024 (the Framework). In August 2024, the Australian Commission on Safety and Quality in Health Care (the Commission) released the revised Framework to support clinical quality registries (CQRs) in collecting, analysing, and reporting clinical data to maximise the value of Australia’s clinical data, ultimately leading to better patient outcomes across Australia. The fact sheets are tailored to CQR operators, clinicians and health service organisations. They provide:

• An overview of the Framework
• Best-practice guidance to establish and operate CQRs in Australia
• Links to essential resources to support effective implementation

Access the resources on the Commission's website. 

People living with a rare disease often face unique challenges that impact their overall mental health and wellbeing. If you live with a rare disease, University of Sydney researchers would love to hear from you about your experiences accessing mental health support and services and how these can be improved. The study invites adults 18 years and above living with a rare disease, to fill out an anonymous online survey about your experience with your rare disease, the impact this has on your mental health, and your experiences accessing and using mental health supports and services. The survey takes up to 30 minutes. For more information, see the survey on this webpage. 

Tasmania's Minister for Health has launched a Discussion Paper inviting all Tasmanians to contribute to the development of a new 20-Year Preventive Health Strategy. This is a chance for Tasmanians to help create a healthier state by telling the Tasmanian Government how to improve the systems that affect your health and support people in adopting healthier behaviours. The new 20-Year Preventative Health Strategy will work to create positive, lasting change for a healthier Tasmania. To learn more, visit the Tasmanian Government Department of Health website.

RVA and The Kids Research Institute Australia (formerly Telethon Kids Institute) are conducting a Rare Disease Research Priority Setting Partnership Project. This project aims to identify and prioritise the 10 most important unanswered research questions for the future of rare disease research in Australia. The project is taking place over the next 12 months. Stage 1 involves an online survey that asks you about your most important research questions or concerns about rare disease – the survey is live now and will close on 23 December 2024. Complete the survey and visit The Kids Research Institute Australia's website to learn more.

The Rare Disease Project ECHO® Clinical Community of Learning Practice is a continuing professional development activity delivered via interactive webinars. The webinars start with a presentation on a specific topic from an expert, followed by reflective discussion, which all participants are encouraged to join.

Final Rare Disease Project ECHO® Session for 2024:

5 December: Clinical Yarning

Register to attend via this web page.

Previous sessions held were Mental Health and Wellbeing, Achieving Early Diagnosis and Innovative Clinical Trials Access Models. Session resources are available via RVA's website.

Joining the Rare Disease Project ECHO® community can have many benefits, including establishing referral pathways across Australia to reach rare disease subject matter experts and supporting with the diagnosis and management of rare diseases. 

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 International Day of People with Disability (IDPwD) will be marked on 3 December. The 2024 theme is, Amplifying the leadership of persons with disabilities for an inclusive and sustainable future. IDPwD is a United Nations day observed internationally. It aims to promote community awareness, understanding and acceptance of people living with disability. Learn more about the IDPwD and how you can get involved via the Australian website.

The Queensland Government is celebrating Disability Action Week from 24 November to 1 December and this year’s theme is Accessible Communication: Connect, Include, Empower. The campaign aims to highlight the importance of accessible communication and how to connect, include and empower people with disability.

RVA's Disability Advocacy Manager, Fiona Lawton, shares her insights on why accessible communication matters, how people with complex communication disabilities communicate, and the use of communication tools such as communication boards and key word signs. Visit the Queensland Government’s website to learn more about accessible communication.