Category: RVA News

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

Rare Voices Australia (RVA) thanks everyone who attended our inaugural Queensland Parliamentary Event dedicated to people living with a rare disease.

This drop-in event provided RVA Partner group/organisation leaders with the chance to interact directly with parliamentarians who stopped by to meet RVA and others who represent people living with a rare disease.

As the national peak body for Australians living with a rare disease, the Parliamentary Event provided RVA with the opportunity to advocate for the following strategic aims:

• Advocate for a stronger presence in Queensland’s Parliament
• Work with parliamentarians to develop an implementation plan for progressing relevant aspects of the Australian Government’s National Strategic Action Plan for Rare Diseases
• Identify the relevant division within Queensland’s Department of Health responsible for progressing a strategic approach to rare diseases

Rare Voices Australia (RVA) invites leaders of RVA Partner groups/organisations to attend a webinar on Wednesday, 22 November 2023 from 12pm to 1:30pm (AEDT) about a new flagship research study on preferences for genomic testing.

As the national peak body for Australians living with a rare disease, RVA is working in partnership with researchers, decision-makers, and other consumer representatives on a co-designed research study regarding preferences for genomic testing.

Aim of the research

To explore the priorities and concerns of people impacted by rare diseases when it comes to genomic testing options.

How the results from this research will be used

The results from this study will be used to help develop a policy tool that groups such as the Medical Services Advisory Committee (MSAC) can use when making future public funding decisions about genomic testing (for example, recommending that a new genomic test be added to the Medicare Benefits Schedule).

About the webinar

The purpose of the webinar is for the research team (see the speaker bios below) to engage with the rare disease community via RVA Partner group/organisation leaders to ensure the study is meaningful and designed appropriately for the Australians living with a rare disease, including families and carers, who will ultimately participate in the study. Researchers will share an overview of the study and invite participants to share their feedback on the study design. The webinar will also provide attendees with the opportunities to learn about preference research methods, which will be used in the planned study. A Q&A session will give people the opportunity to ask any questions they may have about this study.

Webinar details

Date: Wednesday, 22 November 2023

Time: 12pm – 1:30pm (AEDT)

Location: Zoom – register via this link

More than one representative from each RVA Partner group/organisation is welcome to attend the webinar. You can also submit any questions you have for the Q&A session ahead of the webinar by emailing: [email protected].

Note: for those unable to attend live, the webinar will be recorded with the option to provide feedback to the research team via email.

Questions

If you have any questions, please contact RVA’s Research and Evaluation Manager, Falak Helwani, on 0448 505 184 or at [email protected].

Speakers

Dr Falak Helwani – Rare Voices Australia: Host and Q&A Moderator

Falak is a former research scientist with a PhD in molecular cell biology from the University of Queensland and postdoctoral experience in hematopoietic stem cell and bone marrow transplant biology at the Mater Medical Research Institute. She has co-authored several publications and has presented her research both in Australia and overseas. Falak paused her research career to care for her daughter who has a rare congenital heart defect and later learned that her youngest son has a rare auto-inflammatory disease. As RVA’s Research and Evaluation Manager, Falak is committed to ensuring that evidenced-based understanding of rare disease drives advocacy and policy reform.

Nicole Millis – Rare Voices Australia

Nicole was appointed Chief Executive Officer of RVA in June 2016. An experienced social worker, she has both personal and professional experience in the rare disease sector. Nicole has engaged in systemic 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. In 2023, Nicole accepted a health technology assessment appointment to the Enhanced Consumer Engagement Process Co-design Group as a consumer member. 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.

Dr Simon Fifer – Community and Patient Preference Research (CaPPRe)

Dr Simon Fifer is Director of Research at CaPPRe and is on the Advisory committee at Patient Voice Initiative. He is a ‘pracademic’ (practical academic), with a research focus directed at solving real world problems by studying human decision-making using choice-based measurement. In healthcare, this translates to measuring patient preferences and values. Simon has a PhD in Choice modelling from the University of Sydney.

Maya Joshi – Community and Patient Preference Research (CaPPRe)

Maya Joshi is Research Manager at CaPPRe with a background in patient advocacy. Maya is passionate about using preference research to meaningfully integrate patient values into healthcare decision-making – at both an individual and systems level. This includes centring patient voices in treatment discussions with healthcare teams, as well as at a policy level when deciding what treatment options people have access to.

Rare Voices Australia (RVA) invites Queensland-based leaders of RVA Partner groups/organisations to the first-ever Queensland Parliamentary Event dedicated to people living with a rare disease.

This invite-only, drop-in event gives RVA Partner group/organisation leaders the opportunity to interact directly with parliamentarians who stop by over a one-hour period to meet RVA and others who represent people living with a rare disease. There will be no formal speeches to maximise engagement between parliamentarians and attendees.

Event details

Date: Tuesday, 14 November 2023

Time: 1pm to 2pm (AEST)

Location: Parliament House, Queensland

RSVP: Via this form by 5pm (AEST) Tuesday, 7 November 2023

Purpose of the event

This Parliamentary Event is intended to be an initial step towards the establishment of a Queensland Parliamentary Friends of People Living with a Rare Disease. The event will provide elected representatives with the opportunity to gain a better understanding of the common challenges experienced by people living with a rare disease and to meet Queensland-based rare disease group/organisation leaders.

RVA’s strategic aims as the national peak body for Australians living with a rare disease

• Establish a Queensland Parliamentary Friends of People Living with a Rare Disease
• Work with parliamentarians to develop an implementation plan for progressing relevant aspects of the Australian Government’s National Strategic Action Plan for Rare Diseases
• Identify the relevant division within Queensland’s Department of Health responsible for progressing a strategic approach to rare diseases

Maximising your attendance at the event

RVA Partner group/organisation leaders are invited to support the strategic aims of this event and bring information about their own group/organisation to share with parliamentarians. RVA recommends making information available via QR code(s). There will not be any capacity for organisations to bring banners and other display materials.

Invite your local Queensland Member of Parliament

This event is a great opportunity to meet and speak with politicians in Queensland to further highlight rare diseases. Don’t forget to invite your State Member of Parliament if you are attending. If you don’t know who your State Member of Parliament is, visit Queensland Parliament’s official website and the find your electorate page.

Template letter for inviting your local Member of Parliament [Word document]

Important

This invitation is for RVA Partner group/organisation leaders only and RVA is unable to provide any travel support for this event. If you would like to nominate someone in your group/organisation to attend the event besides the person who received the formal invitation RVA has distributed, please email [email protected] with the person’s name, email address and their title. RVA will respond to your request as soon as possible. 

Rare Voices Australia (RVA) is seeking a talented web developer with experience in user interface (UI)/user experience (UX) design to join our growing team. As a web developer, you will help to shape, grow and maximise RVA’s evolving online presence. You’ll be required to assist with designing, coding and modifying our existing websites, while ensuring a user-friendly and accessible online experience.

Note: this is a remote role and location is flexible. Applications close at 5pm (AEST) Sunday, 1 October.

Download the full position description.