Author: Sarah Cannata

Rare Voices Australia (RVA) is the national peak body for the estimated two million Australians living with a rare disease. RVA provides a strong, unified voice to advocate for policy as well as health, disability and other systems that work for Australians living with a rare disease. The organisation’s person-centred focus sees RVA working with key stakeholders in the rare disease sector, including people living with a rare disease, governments, key peak bodies, researchers, clinicians and industry.

Rare Voices Australia’s Vision

RVA is dedicated to working with all key stakeholders to drive the best outcomes for Australians living with a rare disease.

Rare Voices Australia’s Mission

RVA provides collaborative leadership for the development and implementation of rare disease policy in Australia.

Governance

RVA is governed by an independent Board of Directors and a comprehensive Constitution. Several board members have a personal connection with a rare disease and members are based around Australia. All directors and the Chair are required by legislation to hold a director identification number (DIN) available through the Australian Business Registry Services.

RVA’s Board of Directors preside over an Annual General Meeting in the last quarter annually. In accordance with the Australian Securities and Investment Commission (ASIC) and in compliance with a registered Company Limited by Guarantee (ABN 69 156 254 303), RVA’s financials are audited by a registered Company Auditor. Annual Reports are submitted and publicly disclosed with ASIC and the Australian Charities and Not-for-Profits Commission (ACNC). RVA is a registered charity, endorsed with Deductible Gift Recipient (DGR) status.

Rare Voices Australia’s Work

RVA’s work is informed by the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), which was launched by the Minister for Health in 2020 with bipartisan support. The Action Plan is the first nationally coordinated effort to address rare disease in Australia and includes three interrelated pillars:

1. Awareness and Education
2. Care and Support
3. Research and Data

In 2018, the Australian Government commissioned RVA to lead the collaborative development of the Action Plan as the national peak body for Australians living with a rare disease. RVA is now leading the Action Plan’s collaborative implementation.

Scientific and Medical Advisory Committee

RVA’s Scientific and Medical Advisory Committee provides the organisation with medical and clinical perspectives, guidelines and information as needed.

Rare Voices Australia Is Seeking Applications for Non-Executive Board Directors

RVA’s Board of Directors is seeking to appoint up to three Directors. Alongside existing Directors, the appointees will contribute to RVA’s vision to advocate for the best outcomes for Australians living with a rare disease.

Please note: this is a voluntary position.

Applications

Applicants are required to provide a CV and brief response (no more than one page) to the criteria outlined in the Position Description. Please be sure to read the full Position Description before applying. Applications close at 5pm AEST on 31 May 2024.

Download the full Position Description (PDF)

A comprehensive disability reform agenda is underway across Commonwealth and State Governments, including transformation of disability policy, which is being led by the Disability Reform Ministerial Council (DRMC).

This program of disability reform is guided by the commitments of the Australian Disability Strategy 2021-2031 (December 2021) and its supporting action plans, and has been instigated by the subsequent release of 222 recommendations in the Royal Commission into the Violence, Abuse, Neglect and Exploitation of People with Disability (Disability Royal Commission; 29 September 2023) and the National Disability Insurance Scheme (NDIS) Independent Review final report (NDIS Review, December 2023).

Government Response

The Federal Government is not expected to formally respond to the Disability Royal Commission (the Commission) and the NDIS Review until mid-2024, however, engagement with the disability community has commenced regarding the Commission’s recommendations. Ongoing review and monitoring of the NDIS also continues through the Joint Standing Committee on the NDIS.

Rare Voices Australia’s Disability Advocacy

In anticipation of this work and as the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) submitted a grant to be recognised as a Disability Representative Organisation (DRO) in November 2023. Organisations funded under the DRO grant opportunity participate in a range of engagement activities with the Australian Government to ensure that a diversity of voices are represented in decision-making, legislation, policy development and implementation of programs and policies that may affect people with disability.

The outcome of the grant application is still pending, however, RVA continues to actively engage on disability policy reform to ensure the experiences of people living with a rare disease are appropriately reflected.

• On 19 January 2024, RVA provided a Submission to the government’s engagement on the Disability Royal Commission highlighting the synergy and consistency between the goals and priorities of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) and the Disability Royal Commission’s recommendations, including its calls for collaborative policymaking, integrated care models, joint advocacy, enhanced data collection, and research initiatives.
  
• On 25 January 2024, RVA’s Disability Advocacy Manager, Fiona Lawton, attended the NDIS Review Town Hall event in Brisbane led by the NDIS Review Panel co-chairs, Professor Bruce Bonyhady AM and Lisa Paul AO PSM. A copy of the NDIS Review Town Hall presentation is available via the Department of Social Services’ website. The Hon Bill Shorten MP, Minister for the NDIS, spoke at length at the event.
  
• In February 2024, RVA was pleased to provide a detailed submission to the Joint Standing Committee on the NDIS on the NDIS participant experience in rural, regional and remote Australia – Parliament of Australia. You can read our Submission here. RVA thanks our RVA Partner groups/organisations that generously shared the experience of NDIS participants living with a rare disease in regional, rural and remote Australia, and everyone who lodged submissions.
  
• On 29 February 2024 (Rare Disease Day), RVA submitted an expression of interest to join the Disability Data Development Scoping Panel for the National Disability Data Asset, the Federal Government’s program to de-identified data from Australian, state and territory government sources to better understand the life experiences of people with disability. This aligns with Pillar 3 (Research and Data) of the Action Plan to ensure policy is informed by the comprehensive, high-quality collection, and effective use of rare diseases data, including for undiagnosed rare diseases.

Foundational Supports

In December 2023, State and Federal Governments committed to jointly commission Foundational Supports to expand disability services and supports to all Australians living with a disability, not only those receiving NDIS individualised support packages.

The Federal Government followed this commitment with an announcement on 30 January 2024 of a $11.6 million investment over two years to develop and implement the Foundational Supports Strategy. This work will be led by the Hon Amanda Rishworth MP, Minister for Social Services, in consultation with Minister Shorten.

Draft Legislation – National Disability Insurance Scheme Amendment Bill

On 27 March 2024, Minister Shorten tabled draft legislation—NDIS Amendment (Getting the NDIS Back on Track No. 1) Bill 2024—to amend the NDIS Act 2013 to ensure a fairer, sustainable and more equitable NDIS with rule changes phased in as they are developed through co-design with the disability sector. Minister Shorten’s speech is available via the Ministers for the Department of Social Services’ website.

Incorporating the Voice of People Living with a Rare Disease

RVA understands that the current DROs have been actively engaged in consultation regarding the draft legislation and will be core to the development of the Foundational Supports Strategy.

RVA has written to Minister Rishworth and Minister Shorten highlighting RVA’s key role in systemic advocacy for people living with a rare disease and disability impacts, and to request recognition and active engagement with RVA as a key stakeholder in all aspects of disability policy and strategy work.

RVA is also reviewing the draft legislation and will provide a written response to Minister Shorten for consideration.

National Disability Insurance Scheme Provider and Worker Registration Taskforce

The NDIS Review recommended graduated mandatory registration (or enrolment) of all NDIS providers. The Federal Government has appointed the NDIS Provider and Worker Registration Taskforce (the Taskforce) to provide advice on the design and implementation of the new risk-proportionate regulatory model. The Taskforce is seeking submissions until 28 April 2024.

Virtual Roundtable for Rare Voices Australia Partner Groups/Organisations

On Tuesday 16 April, RVA will be convening a virtual roundtable with interested RVA Partner groups/organisations to discuss what the proposed changes mean for the rare disease sector and will subsequently provide a Submission and request a meeting with the Taskforce. Please email your interest in attending the roundtable to [email protected] by Tuesday 9 April to receive the question pack and supporting documents ahead of the session.

Rare Voices Australia (RVA) thanks everyone who attended our 2024 Rare Disease Day Parliamentary Event in Canberra on the rarest day of the year (29 February). Hosted by the Parliamentary Friends of Rare Diseases, the event theme was Progress Beyond Policy.

Read the speech delivered by RVA’s Chief Executive Officer, Nicole Millis.

Guests also heard about Rare Disease Centres of Expertise and Australia’s first National Recommendations for Rare Disease Health Care (the Recommendations), which launched on Rare Disease Day. The Recommendations were written to help health professionals provide quality care for people living with rare disease, including people with a diagnosed rare disease and those who have not yet received a diagnosis.

Acknowledgements

Thank you to the following Members of Parliament who spoke at RVA’s biggest-ever Parliamentary Event and who continue to show their support for the estimated two million Australians living with a rare disease:

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

We also thank our other speakers:

• Dr (Elizabeth) Emma Palmer, senior clinical lecturer at University of New South Wales, Sydney, and leading co-author of the Recommendations
• Dr Falak Helwani, Research and Evaluation Manager, RVA

Special thanks to the RVA Board Directors and Scientific and Medical Advisory Committee members who joined us on Rare Disease Day. We also thank our RVA Ambassadors.

The Importance of Rare Disease Day

Rare Disease Day is an opportunity to celebrate all we have achieved as a sector and consider how we can continue building on the momentum already generated to accelerate progress beyond policy, while maintaining a person-centred approach as the ongoing implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) continues.

Action Plan implementation requires ongoing multi-partisan collaboration and support, and RVA looks forward to continuing to advocate for the best outcomes for Australians living with a rare disease.

Rare Voices Australia (RVA) is pleased to partner with Tuberous Sclerosis Australia (TSA), Mito Foundation and Crohn’s & Colitis Australia to implement the third component of The Navigator Project:

Engagement with three consumer-led rare and complex disease organisations

RVA congratulates the successful organisations and we look forward to working with you! We thank every organisation that lodged an expression of interest (EOI) and participated in the process.

The successful organisations will receive $20,000 (+GST) per grant year for three years, totalling a maximum amount of $60,000 (+GST) to establish the benefits of an existing patient navigation model and contribute to The Navigator Project’s overall data collection and reporting. This will involve information sharing to support continuous improvement of telehealth nurse-led services for people/families living with a rare and complex disease, while also providing an evidence base for alternative patient navigation models for rare and complex diseases.

Background Information

In 2023, RVA sought EOIs from experienced consumer-led rare and complex disease organisations already providing disease-specific telehealth service navigation to progress the third component of The Navigator Project. Selection was based on an open competitive process.

What Is the Navigator Project?

The Navigator Project is being led by RVA—the national peak body for Australians living with a rare disease—and is funded by the Department of Health and Aged Care’s Rare and Complex Disease Telehealth Nurse Program grant. Its purpose is to support the estimated two million Australians living with a rare disease to navigate the health system, including via the assistance of telehealth nurses.

The Navigator Project is well underway. Read more about The Navigator Project’s three core components and how this work accelerates implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases via this article on RVA’s website.

Collaboration, sustainability, data collection and evaluation are key aspects of The Navigator Project. RVA will continue updating the sector regarding The Navigator Project as the initiative continues progressing.

Queries About The Navigator Project

Please direct all queries about The Navigator Project to: [email protected].

On 30 November, the Australian Government published its response to The New Frontier – Delivering better health for all Australians report (the New Frontier report) tabled by the Standing Committee on Health, Aged Care and Sport on 25 November 2021. The New Frontier report responded to the Parliamentary Inquiry into approval processes for new drugs and novel medical technologies in Australia and contains 31 recommendations, including dedicated sections to rare diseases and the patient voice. It also aligns with several of the priorities, actions and implementation steps outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases.

RVA has published a Position Statement that addresses the government’s response. Read the Position Statement in full. RVA’s early analysis primarily focuses on the strengths of the government’s response. We note that the government has accepted several recommendations in principle only. RVA recognises that this style of language is typical for a government response. We also note that the government refers to the role of the Health Technology Assessment Policy and Methods Review (HTA Review) currently underway in response to several of the recommendations. RVA recognises that such responses are appropriate and continues to actively participate in the HTA Review as the national peak body for Australians living with a rare disease. 

Download the Position Statement [PDF]

This year saw the culmination of several substantial reviews of the disability landscape across Australia exploring the lived experience of people with disability and how the many systems, policies and government departments that support this sector need to transform to better meet the needs of people with a disability.

As of December 2023, there are over 250 recommendations and 139 actions for State and Federal Governments to consider, with many recommendations to significantly restructure and reframe the government structure, policy and legislative framework that will coordinate and drive national disability priorities in the years ahead.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the opportunity to work with governments in the coming years to drive comprehensive, systemic change for people living with a rare disease to assist in addressing the impacts of disability.

Royal Commission Into Violence, Abuse, Neglect and Exploitation of People with Disability: Final Report

RVA welcomes the Royal Commission Into Violence, Abuse, Neglect and Exploitation of People with Disability: Final Report, which calls for transformational change for Australia to be a more inclusive society that supports the independence and human rights of people with disability.

RVA is pleased that many of the 222 recommendations from the Disability Royal Commission are based on the foundation principles of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), focusing on a person-centred approach, equity of access, and sustainable systems and workforce.

The Federal Government is currently seeking feedback on the Disability Royal Commission Final Report until 19 January 2024 and RVA will provide a response, with a particular focus on furthering recommendations that improve pathways for integrated, whole-of-life care across disability, health, and education in line with:

Action 2.1.1 Provide rare disease care and support that is integrated, incorporating clear pathways throughout health, disability and other systems.

Action 2.1.2 Build a broad range of care and support services that are responsive to the changing needs of people living with a rare disease and their families.

National Disability Representative Organisations

In November 2023, RVA applied to the Department of Social Services (DSS) for the Disability Representative Organisations (DRO) grant opportunity, which provides funding over two years from July 2024 to July 2026 to organisations to provide systemic advocacy for Australians with disability.

Organisations funded under the DRO grant opportunity will participate in a range of engagement activities with the Australian Government to ensure that disability issues and a diversity of voices are represented in decision-making, legislation, policy development and implementation of programs and policies that may affect people with disability. RVA believes that the specific needs of the estimated two million Australians living with a rare disease, many of whom have disabilities as a result of the impact of their condition(s), are currently under-represented. RVA believes that we can make a valuable contribution in this space given the complexity and intersectionality of our community and the insights and wisdom from over 100 RVA Partner rare disease groups/organisations. The successful DROs will be announced in early 2024.

National Disability Insurance Scheme

Throughout 2023, RVA has consolidated our position with the National Disability Insurance Agency (NDIA) as the peak body for Australians living with a rare disease. We have actively engaged throughout the year with the NDIA, including participating in monthly meetings with the NDIA’s Stakeholder Engagement team and additional briefings with NDIA leaders, including the Deputy Chief Executive Officer; Strategy and Service Improvement; and Director – Hospital Interface Branch.

RVA’s disability strategic priorities include:

• Increasing  opportunity for co-design and collaboration across the NDIA and its work program
• Developing a Rare Disease Dashboard Report with the Scheme Actuary to develop a report on NDIS participants with rare disease, their experiences, and outcomes
• Improving the hospital/health interface, including the use of NDIS Concurrent Support
• Increasing rare disease knowledge and capability among the NDIA’s workforce through staff education and training, and promotion of the Rare Awareness Rare Education (RARE) Portal
• Development of an Advisory Group to improve NDIS support for people with progressive conditions (neurological and rare disease)

RVA continues to advocate for appropriate representation with the NDIA to help shape policy and practice. We  believe this is best achieved in the form of membership of the Disability Representative and Carer Organisations (DRCOs) Forum. The DRCOs Forum was first established in 2021 by then NDIS Minister, Senator the Hon Linda Reynolds CSC, and is currently under review with new Terms of Reference to be finalised early next year. RVA has already been invited to participate in co-design activities with leaders from other DRCOs and this is expected to continue in 2024.

Joint Standing Committee on the National Disability Insurance Scheme – Capability and Culture of the National Disability Insurance Agency

In November 2023, the Joint Standing Committee on the National Disability Insurance Scheme (the Committee) released its final report into the Capability and Culture of the NDIA. The Committee focused its attention on the extent to which the NDIA’s approach, policies, practices, and functions reflect a genuine organisational commitment to supporting NDIS participants to live a full life. The final report includes 27 recommendations.

RVA provided a submission to the Committee in December 2022 and is pleased that the Committee’s final recommendations explicitly address several key concerns for people living with both a rare disease and disability. These include recognising the totality of people’s disability, including the presence of multiple disabilities and implementing mechanisms to improve NDIA staff knowledge and acceptance of invisible, episodic, rare, and psychosocial disabilities, while increasing recruitment of staff with specialist knowledge and skills in these areas.

RVA also met with several Members of Parliament throughout the year, including the Minister for the NDIS, the Hon Bill Shorten MP’s office, the Hon Mike Sukkar MP, Shadow Minister for Social Services, NDIS, Housing and Homelessness, and Greens Senator Jordan Steele-John. RVA reinforced the need for increased co-design with RVA to increase the capability of government agencies and to inform improved policy development.

National Disability Insurance Scheme Independent Review

The Final Report on the Independent Review of the NDIS (the NDIS Review) was released on 7 December 2023, and makes 26 recommendations with 139 actions intended to provide an integrated blueprint for wholesale changes to the systems that support people with disability.

Importantly, the NDIS Review recommendations extend well beyond the NDIS and look to a new connected system of support, including mainstream services and foundational support for all people living with disability, not only NDIS participants.

The NDIS Review report is available here.

The NDIS Review at a glance is a one page visual summary

These 10 Fact Sheets provide an overview of recommendations by key topics.

RVA provided a detailed written submission to the NDIS Review and appreciated the opportunity to meet with the NDIS Review Secretariat in August 2023 to further explore the specific needs of people living with rare disease and disability.

Systemic Advocacy for Disability: Next Steps

The Australian Government is carefully considering the recommendations in the final reports of both the NDIS Review and the Disability Royal Commission before providing its full response, which is expected in early 2024.

RVA is critically reviewing the recommendations from the NDIS Review, Disability Royal Commission and the Committee report, including in reference to the Action Plan, and will provide a consolidated response to both government and our RVA Partner groups/organisations. This will guide our systemic advocacy for disability program in 2024.

In January 2024, RVA will engage with the rare disease sector to prepare a submission for the Joint Standing Committee on the NDIS inquiry into the NDIS participant experience in rural, regional and remote Australia.

Acknowledgements

RVA acknowledges the submissions and contributions of RVA Partner groups/organisations to the Disability Royal Commission, NDIS Review and the Committee inquiries. We thank you for the important role these contributions play in raising awareness and driving systemic change to improve the lives of NDIS participants, and people with a disability more broadly living with a rare disease, as well as their families, carers and communities.

Louise Healy, RVA’s Education and Advocacy Manager, and Disability Projects liaison, Fiona Lawton, have been leading this work on behalf of RVA.

Rare Voices Australia’s (RVA) role in identifying evidence gaps and proactively partnering with researchers and other experts to address unmet areas of need in research continued growing throughout 2023. Our research work aligns with the priorities, actions and implementation steps in the Research and Data Pillar of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan).

Rare Voices Australia Research Partnerships

RVA received over 16 requests for partnerships from rare disease research teams across Australia in 2023 making for another busy year for RVA Research Partnerships. Twelve RVA Research Partnership requests were for RVA involvement on Medical Research Future Fund (MRFF) grants, and one was on a National Health and Medical Research Council grant. At the time of writing, 4 RVA Research Partners have been selected for funding, and 5 are yet to be announced.

Throughout 2023, RVA has also been actively involved in several RVA Research Partnerships established in previous years. RVA’s roles on these projects range from involvement on steering committees and advisory groups, to document review and co-design. RVA offers researchers broad rare disease stakeholder knowledge and consumer expertise as the national peak body for Australians living with a rare disease, including a strong track record in effective rare disease advocacy and policy influence.

RVA’s Research Partnership Guidelines have also undergone two reviews this year, and we have a new online Research Partnerships Proposal form for researchers to request a partnership. This new process aims to encourage researchers to engage with the Action Plan and increase transparency around how RVA partners with researchers. Through this more streamlined and transparent workflow, RVA will have greater capacity to actively participate in research.

For more information on RVA Research Partnerships and to access the form, please visit the Research Partnerships page on RVA’s website.

RVA Research Reports

This year, RVA published several evidence-based reports progressing different areas of the Action Plan. RVA acknowledges the collective efforts of all those involved in the development of the following reports. RVA will continue to use these reports in its systemic advocacy to drive the best outcomes for Australians living with a rare disease.

National Strategy for Australia’s Rare Metabolic Workforce

Recommendations for a National Approach to Rare Disease Data

2023 Status Report: Implementing the National Strategic Action Plan for Rare Diseases

Rare Voices Australia’s broader influence on Australian health and medical research funding for rare diseases

RVA has built strong relationships with the Health and Medical Research Office (HMRO) through active contributions to discussions around the future governance and administration of the Medical Research Endowment Account and the MRFF. This included a written response to the public consultation, and an invitation to join a range of stakeholders from universities and institutions to share rare disease peak body perspectives at a roundtable in Brisbane in August. For more information about this work, please visit this news article on RVA’s website: Rare Voices Australia’s Submission on the Future Governance and Administration of Australian Health and Medical Research Funding.

RVA has also built relationships with the MRFF Clinical Trials Activity Scheme leads, prompted by an independent evaluation of this grant opportunity. More information about the evaluation and RVA’s response is available in this news article on RVA’s website: Evaluation of the Medical Research Future Fund Clinical Trials Activity Final Report.

RVA is committed to maintaining strong relationships with the HMRO to encourage greater investment in rare disease research and clinical trials and increase the uptake of relevant grant schemes intended to support the efforts of Australian rare disease researchers.

Other work

Aside from formal RVA Research Partnerships, RVA has shared recruitment materials for several research projects, and actively contributed rare disease expertise to a variety of research reports, documents and consultations. These include:

• Feedback on the Australian Clinical Trials Alliance’s recommendations for ‘Advancing clinical trial engagement, involvement, and participation for people from culturally and linguistically diverse backgrounds’
• Feedback on and endorsement for the final Stakeholder Report from the MRFF funded A-GLIMMER study on genetic testing and life insurance
• Feedback on and endorsement for the Australian Health Practitioner Regulation Agency’s (AHPRA) public consultation on their draft Interprofessional Collaborative Practice (IPCP) Statement of Intent
• Submission to the public consultation on proposed revisions to Section 4 of the National Statement on Ethical Conduct in Human Research
• Feedback to the Australian Commission on Safety and Quality in Health Care’s Draft Quality Standards for Institutions and Human Research Ethics Committees under the National Mutual Acceptance Scheme
• Feedback on and endorsement for Involve Australia’s Guidelines for Community Involvement in Genomic Research