Author: Sarah Cannata

The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), launched in 2020, is the first nationally coordinated effort to address rare diseases in Australia.¹ As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) is leading the collaborative implementation of the Action Plan.

Between September and October 2022 and during February 2023, RVA conducted an activity scan—the first measure of Action Plan progress since its launch in 2020—inviting the rare disease sector to share their projects, initiatives and achievements. Preliminary findings were shared at the 2022 National Rare Disease Summit last November. A summary of the findings to date was shared with attendees at RVA’s 2023 Rare Disease Day Parliamentary Event in March. The full status report is now available at the link below.

This status report of Action Plan progress is a means of introspection for the whole sector. The results are intended to support all stakeholders to review and refine their approaches for the most effective and efficient path to early implementation of sustainable and systemic change across all pillars, priorities, actions and implementation steps.

Summary of findings and recommendations

The activity scan captured hundreds of activities aligning with Action Plan Pillars and Priorities. These activities were categorised according to 5 key elements of progress—Input, Activities or Processes, Outputs, Outcomes and Impact. The activities were also mapped to the 8 key themes in the Action Plan, developed by the rare disease sector for the rare disease sector, as descriptive indicators of progress. The results set a baseline for future measures of implementation progress, identify areas that need more attention and highlight strengths across the sector.

All governments must urgently invest in the rare disease sector. This should include investment in regular reviews of Action Plan progress to support iterative implementation plans for a responsive, dynamic, transformative and targeted approach.

The sector must be supported to collectively and continually:

• prioritise gaps;
• ensure activities address priorities across more than one Pillar;
• translate input, activities and outputs into outcome and impact;
• work towards systemic change and prioritisation of broader impact;
• count rare diseases in Australia;
• progress sustainable systems and workforce for all rare diseases;
• ensure cross-system collaboration and partnerships;
• facilitate early implementation;
• address the specific needs of the priority populations identified in the Action Plan; and
• foster a culture of evaluation.

Implementation of the Action Plan is the ongoing responsibility of all stakeholders, including all levels of government, the public and private health sectors, rare disease organisations, industry, researchers and the wider community. RVA remains committed to leading the collaborative implementation of the Action Plan and will continue to monitor and evaluate progress and steer the sector to the realisation of the collective vision for the best possible health and wellbeing outcomes for Australians living with a rare disease.

Downloads

Full Status Report
Summary

Reference

1. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases

On Tuesday 9 May, the Hon Dr Jim Chalmers MP (Treasurer of Australia) delivered the Albanese Government’s 2023-24 Federal Budget. Overall Australian Government spending on health, aged care and sport in 2023-24 is $137.6 billion.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) attended the Department of Health and Aged Care’s Portfolio Briefing Webinar Presentation and Q&A on Wednesday 10 May. The webinar included the Hon Mark Butler MP (Minister for Health and Aged Care); the Hon Ged Kearney MP (Assistant Minister for Health and Aged Care); the Hon Emma McBride MP (Assistant Minister for Mental Health and Suicide Prevention and Assistant Minister for Rural and Regional Health); the Hon Anika Wells MP (Minister for Aged Care and Minister for Sport); and Senator the Hon Malarndirri McCarthy (Assistant Minister for Indigenous Australians and Assistant Minister for Indigenous Health). The session was facilitated by Prof Brendan Murphy AC, Secretary of the Department of Health and Aged Care.

RVA Statement: 2023-24 Federal Budget

RVA has highlighted some areas of the Federal Budget we believe are most relevant to the estimated two million Australians living with a rare disease and the rare disease sector. RVA’s work is non-disease specific and is based on the commonalities of rare disease. Our advocacy focuses on rare disease policy, processes and systems. We advocate for all rare disease communities and remain committed to ongoing work with all governments to progress the systemic implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases.

Read RVA’s full 2023-24 Federal Budget Statement.

Equitable access to health technology is a key priority of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). Rare Voices Australia (RVA) and the rare disease sector have been actively advocating for reform that makes health technology assessment (HTA) for rare disease therapies more fit-for-purpose. Most recently, as the national peak body for Australians living with a rare disease, RVA has been advocating to ensure that consumers lead the co-design of an enhanced consumer engagement process and met with the HTA Policy and Methods Review Reference Committee to discuss this issue. You can read the communique that was released following two meetings, including the meeting with RVA.  

Health Technology Assessment Policy and Methods Review

The HTA Policy and Methods Review (the HTA Review) is being conducted by the Department of Health and Aged Care and is an opportunity to ensure Australia’s HTA policy is constantly improving under evaluation. Click here to read more about HTA; the Terms of Reference (TOR) for the HTA Review; RVA’s reflections on the TOR; and more.

Rare Disease Sector Webinar: Health Technology Assessment Policy and Methods Review

As part of RVA’s ongoing HTA advocacy, we encourage rare disease organisations/groups to participate in the HTA Review in ways that align with their capacity. To support this, we are running a webinar. 

Webinar Details:

Date: Monday, 8 May 2023
Time: 7pm-8:30pm AEST

All are welcome to register. The webinar will consist of presentations and a Q&A session. The presentations will be recorded and uploaded to RVA’s Online Education Portal. The Q&A session will only be available to those attending live.

Submit Your Questions

You are welcome to submit your questions for consideration ahead of the webinar. Please email all questions to: education@rarevoices.org.au

Note: the Q&A session will only be available to those attending live.

The Webinar Will Cover:

• What is HTA?
• What is the HTA Review and why is it being done?
• How can consumers get involved in the HTA Review?
• The information, evidence and input the HTA Policy and Methods Review Reference Committee are seeking from consumers
• The enhanced consumer engagement process and an update on work already underway
• HTA and rare disease therapies
• Key messages aligned with the Action Plan

Presenters

Ann Single – HTA Policy and Methods Review Reference Committee

Ann Single is the Coordinator and an Advisory Committee Member of the Patient Voice Initiative (Australia) and internationally chairs the Health Technology Assessment international (HTAi) Patient and Citizen Involvement Interest Group (known as PCIG) whose 300 multi-stakeholder members in 43 countries work to improve patient involvement in health technology assessment (HTA). Her interest in patient knowledge and how decisions are made about what is funded in health systems began when she directed patient involvement and communication in Scotland’s first HTA body and later established involvement processes for the Scottish Medicines Consortium. She is co-editor of the first book in the field, Patient Involvement in Health Technology Assessment (2017). Ann recently accepted an invitation to serve as a patient representative on the Reference Committee for the Australian Government’s HTA Policy and Methods Review. She was a co-chair of the HTAi Annual Meeting scientific program committee in 2022 and will be a member of this and the Local Organising Committee for HTAi’s Annual Meeting in Adelaide in June 2023.

Jo Watson – Chair, HTA Consumer Consultative Committee

Jo Watson is Deputy Chair of the Pharmaceutical Benefits Advisory Committee (PBAC) and has been a consumer nominee on the PBAC since 2013. In 2021 she was appointed the Deputy Chair of the MBS Review Advisory Committee (MRAC) and is also Deputy Chair of the Board of Consumers Health Forum (CHF), the peak national health consumer organisation in Australia. Jo’s areas of interest include developing pathways for patient engagement in HTA, public health responses to infectious disease outbreaks, and capacity building for patient representatives and advocates. Jo has contributed to health policy reform and analysis in the areas of Communicable Diseases, the National Medicines Policy and PBS programs. Jo has been the Chair of the HTA Consumer Consultative Committee within the Office of Health Technology Assessment in the Department of Health since it was established in February 2017.

Nicole Millis – Chief Executive Officer, RVA

A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. Nicole has engaged in rare disease advocacy since 2008 and has extensive experience regarding access to treatments. Since 2018, Nicole has held the role of consumer nominee on the Life Saving Drugs Program Expert Panel. Under Nicole’s guidance, RVA led the collaborative development of the National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.

Host/Q&A Session Moderator

Louse Healy – Education and Advocacy Manager, RVA

Louise has extensive experience working as a consultant and coach in the corporate sector and has post graduate qualifications in psychology. Her connection with rare conditions began when her first child was born with a rare metabolic disorder. Louise has been involved in rare disease support and advocacy for over 10 years and she is the current Vice President of the Metabolic Dietary Disorders Association (MDDA). She has led successful advocacy campaigns for access to medicines and support programs for people with rare disorders of protein metabolism. Louise is a previous RVA Board member, current member of the Queensland Genomics Community Advisory Board and a founding board member of the Global Association for PKU.

RVA Partner Organisations/Groups

RVA offers mentoring for RVA Partner organisations/groups that wish to access customised guidance and support: education@rarevoices.org.au

One year on from the launch of the Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia (White Paper)¹, Rare Voices Australia (RVA) has launched the National Strategy for Australia’s Rare Metabolic Diseases Workforce (Strategy).² The Strategy is an evidence-based, expert-backed framework of goals, recommendations and priority actions that address current high levels of unmet need through a nationally consistent and sustainable workforce.

RVA’s Chief Executive Officer, Nicole Millis, mentioned the Strategy in her speech at RVA’s Rare Disease Day Parliamentary Event on 8 March 2023 and highlighted the importance of sustainable systems and workforce for rare disease more broadly.

Special thanks to the Project Steering Committee, RVA Partner organisation leaders and other experts in the specialist metabolic workforce for their guidance in co-developing the goals, recommendations and priority actions for the Strategy.

Why Is This Work Important?

Australia’s first nationally coordinated effort to address rare diseases—the National Strategic Action Plan for Rare Diseases (the Action Plan)³—called for the development of a national rare disease workforce strategy that responds to current and future demands, including the impact of genomics. ‘Sustainable systems and workforce’ is one of three foundation principles of the Action Plan.

The Strategy is an initial step to progress the development of a national rare disease workforce strategy. As the national peak body for Australians living with a rare disease, RVA is leading the collaborative implementation of the Action Plan.

About the Strategy

In 2022, RVA published the White Paper, ¹ which together with sector consultation, informed development of the Strategy.²

A person-centred approach to implementing this Strategy is essential and is the responsibility of all stakeholders, including governments, hospital administrators, healthcare providers, specialist physician groups and policymakers across states and territories, and at a national level.

Next Steps

• RVA will share the Strategy with all key stakeholders
• RVA will seek meetings with Commonwealth, State and Territory Governments, Departments of Health and all specialist metabolic services across Australia to discuss timely implementation of the Strategy

Strategy Downloads

Download the Strategy (PDF)

Download the Strategy Summary (PDF)

References

1. Equity Economics and Rare Voices Australia (2022). Rare Metabolic Disease Workforce White Paper Towards a Strengthened Rare Disease Workforce for Australia, February 2022. Available From: https://rarevoices.org.au/wp-content/uploads/2022/02/RareMetabolicDiseaseWorkforce_WhitePaper.pdf
2. Rare Voices Australia Equity Economics (2023). National Strategy for Australia’s Rare Metabolic Disease Workforce, February 2023. Available From: https://rarevoices.org.au/wp-content/uploads/2023/03/RareMetabolicDiseaseWorkforce.pdf
3. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) is leading the collaborative development of the Rare Awareness Rare Education (RARE) Portal for rare diseases. The RARE Portal is one of the key deliverables of the Australian Government’s National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.

The RARE Portal is a living website in ongoing development, with new information added regularly. Download the RARE Portal flyer. Feel free to distribute the flyer among your networks.

A look at the RARE Portal

The RARE Portal:

• Is a digital library of verified rare disease information, services and resources
• Is customised for the Australian context
• Caters for all stakeholders in the rare disease sector and the general public, with dedicated pages for the rare disease community, healthcare professionals and researchers
• Is a living website that is responsive to feedback and new knowledge
• Highlights strengths and gaps across the rare disease sector, which can inform policy and service development

What’s on the RARE Portal

• General information about rare diseases
• Information for all stakeholders in the rare disease sector
• Services and resources available nationally and in specific states and territories
• Rare disease information customised for Aboriginal and Torres Strait Islander people, people from culturally and linguistically diverse backgrounds and people living in regional, remote and rural areas
• Individual disease pages developed together with RVA Partner organisations (disease-specific groups)
• A-Z Support Directory of rare disease groups
• Opportunities for stakeholders to provide ongoing input via a Contribute page

How the RARE Portal is being developed

The RARE Portal is informed by an extensive multi-stakeholder consultation process, led by RVA. Development of the RARE Portal has been funded by the Australian Government. Read more about the multi-stakeholder consultation process to date.

RARE Portal updates

RVA will circulate updates about the RARE Portal as it develops. Please fill out the form below if you’d like RVA to email you RARE Portal-related updates.

Rare Voices Australia (RVA) is looking to recruit a Communications and Engagement Officer. The suitable candidate will have a range of responsibilities, including supporting RVA’s Communications Manager and other staff across various communications and engagement tasks.

If you have proven experience in a similar role and are committed to improving the lives of Australians living with a rare disease, we’d love to hear from you. Applications close Monday 3 April 2023, 5.00pm AEST.

Download the full position description.

Thank you to everyone for your support of 2023 Rare Disease Day (28 February) and the estimated two million Australians living with a rare disease. Several Rare Disease Day themed events organised by our Rare Voices Australia (RVA) Partner organisations (rare disease groups) and other stakeholders took place to mark the day. It is wonderful to see Rare Disease Day continuing to gain momentum each year. Thank you to everyone for your invaluable contribution!

Watch the video for a snapshot of the events that took place globally.

As the national peak body for Australians living with a rare disease, RVA has put together a summary of highlights for 2023 Rare Disease Day in Australia.

Rare Voices Australia’s Rare Disease Day Parliamentary Event

Dr Mike Freelander MP (Chair, Standing Committee on Health, Aged Care and Sport and Co-Chair, Parliamentary Friends of Rare Diseases) hosted RVA’s Rare Disease Day Parliamentary Event on 8 March. The event theme was, Ensuring Equity for Australians Living With a Rare Disease. Thanks to RVA Ambassador, Renae Wood, for sharing her personal story of living with epidermolysis bullosa and the difference equity can make for people living with a rare disease.

Thank you to our host Dr Freelander, Member for Macarthur, and the following Parliamentarians who spoke at the event:

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

RVA was pleased to provide a progress update on implementation of the National Strategic Action Plan for Rare Diseases, which requires ongoing multi-partisan collaboration and support.

RVA acknowledges the many political attendees, including over 20 Parliamentarians and Assistant Ministers (listed below), who attended for their support of Rare Disease Day.

• Hon Ged Kearney MP, Assistant Minister for Health and Aged Care
• Hon Dr Andrew Leigh MP, Assistant Minister for Competition, Charities and Treasury
• Hon Emma McBride MP, Assistant Minister for Mental Health and Suicide Prevention; and Assistant Minister for Rural and Regional Health

Special thanks to our RVA Ambassadors, RVA Partner organisation leaders and other stakeholders who also joined us. See more photos from the event.

Parliamentary Event Hosted by the Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia

RVA was pleased to attend a Rare Disease Day Parliamentary Event on 21 February hosted by the Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia. RVA’s Chief Executive Officer, Nicole Millis; Director, Kane Blackman; Scientific and Medical Advisory Committee member, Clin/Prof Gareth Baynam; Education Project Officer, Jess Brooklyn; and RVA Ambassador, Andrew Bannister were pleased to attend. The event focused on the experiences of people living with a rare disease. Click here to read more.

Global Chain of Lights and Landmark Illuminations in Australia

The Global Chain of Lights is a key Rare Disease Day initiative, with the global community coming together to illuminate landmarks in support of people living with a rare disease. Over 60 landmarks (that RVA is aware of) were illuminated. A big thank you to our small group of volunteers who secured landmark illuminations for 2023 with assistance from RVA as needed and whose efforts are always very much appreciated.

Social Media

Several politicians and the Australian Government Department of Health and Aged Care posted about Rare Disease Day and RVA’s Parliamentary Event across social media.

RVA was excited to take over the official Rare Disease Day social media accounts on 16 February. Thank you to our RVA Ambassadors who filmed short videos for Instagram and TikTok. The Instagram Reel filmed by RVA Ambassador Renae Wood generated over 27,500 views on Instagram and Facebook. Amazing!

Media

Several RVA Partner organisations secured media coverage on Rare Disease Day. Congratulations to everyone who helped to spread the word about the day and rare diseases generally!

What is Rare Disease Day?

Rare Disease Day is the globally coordinated movement for rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. The campaign is organised globally by EURORDIS – Rare Diseases Europe, Rare Diseases International and 68 national alliances. RVA is:

• The national alliance that represents Australia for Rare Disease Day annually
• A member of the Rare Disease Day Steering Committee that oversees the campaign in the longer-term

The Importance of Rare Disease Day Locally

Locally, Rare Disease Day is an opportunity to raise awareness and inform policymakers on the issues faced by the Australian rare disease community, in an effort to achieve meaningful change. Pillar 1 of the National Strategic Action Plan for Rare Diseases is Awareness and Education, while ‘State, national and international partnerships’ is a critical enabler.

Each year, Rare Disease Day continues to build momentum and planning is already underway for next year, which is a leap year. This means Rare Disease Day will take place on the rarest day of the year (29 February).