Hi RVA Supporter,

Earlier this month, the Hon Dr Jim Chalmers MP (Treasurer of Australia) handed down the Albanese Government’s 2024-2025 Federal Budget. Louise Healy, Rare Voices Australia’s (RVA) Education and Advocacy Manager, and I were pleased to be in Canberra throughout Federal Budget week for several political and departmental meetings.

Reviewing the Federal Budget revealed there is some good news for the rare disease sector although work is still required in some areas. RVA welcomes the investment of $25 million to support the continued delivery of newborn bloodspot screening (NBS) expansion and consistency of conditions. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), early diagnosis is critical in rare disease for better outcomes as it enables the best immediate treatment and care. RVA was also pleased to see the inclusion of $2.6 million in 2024–2025 to support patient care improvement and general practitioner services, health professional education, condition awareness and digital resources for childhood dementia, juvenile arthritis, stroke, rare diseases and epilepsy. 

As the national peak body for Australians living with a rare disease, RVA lodged a Pre-Budget Submission that aligns with the priorities, actions and implementation steps outlined in the Action Plan to accelerate its collaborative implementation. This included funding for Rare Disease Centres of Expertise (CoE) through a competitive workforce grant to develop and accelerate models of expert rare disease care. CoE and a sustainable workforce are critical to addressing gaps in rare disease care and are also key to ensuring the full benefits of the NBS can be experienced, addressing significant unmet needs and gaps across the rare disease community. We are disappointed this priority for the rare disease sector did not receive funding, however, RVA will continue working with all Australian governments to advocate for the best outcomes for the estimated two million Australians living with a rare disease.

While in Canberra, I was pleased to attend a two-day Health Technology Assessment (HTA) Consumer Consultative Committee meeting in my role as a consumer nominee on the Life Saving Drugs Program Expert Panel. The HTA Consumer Consultative Committee provides strategic advice and support to the Department of Health and Aged Care and principal HTA committees. Acting as an advisory group, it brings consumer views into HTA processes and relevant matters.

RVA Director Recruitment: Applications Closing Soon

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. The RVA Board comprises dedicated and passionate people across Australia with several board members also having a personal and professional connection to rare diseases. I encourage those interested to download the full Position Description via RVA’s website for more information. Applications close at 5pm AEST on 10 June 2024.

RVA Stakeholder Survey to Help Inform Future Focus Areas and Priorities

RVA is preparing for our annual Strategy Review session in July where, as an organisation, we discuss our focus areas and priorities for the future. We are asking all stakeholders in the rare disease sector for their input ahead of our Strategy Review meeting. Your responses will be considered and assist in informing RVA’s priorities in 2024 and beyond. The survey will take approximately 10 minutes and can be completed via Survey Monkey.

May 2024 Disability Update

Earlier this month, RVA was advised by the Australian Government Department of Social Services that we were unsuccessful in our application for a grant as a Disability Representative Organisation (2024-2026). While this outcome was disappointing, RVA was pleased to see that for the first time, the government is funding a dedicated Disability Representative Organisation for people with intellectual disability and chromosomal variations. The consortium, led by Down Syndrome Australia, includes several rare disease organisations and RVA Partners. Congratulations to those involved in the consortium! 

RVA was pleased to receive an invitation from the Joint Standing Committee on the NDIS (the Committee) Inquiry into the NDIS participant experience in rural, regional and remote Australia to appear at a public hearing at Parliament House in Canberra on 28 June 2024 based on the Submission RVA lodged in February 2024. RVA is pleased to be receiving more invitations and opportunities to engage as the national peak body for Australians living with a rare disease, including those impacted by a disability. We will continue working to formalise these arrangements to ensure RVA remains actively involved in all relevant areas of disability policy reform. Read the full May 2024 disability advocacy update via RVA's website.

Acknowledgements

RVA extends a warm welcome to Emma Bonser who has recently joined RVA Partner, Genetic Alliance Australia, as Chief Executive Officer. Emma is known to RVA from her previous roles, and we look forward to working with her.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Adam's story highlights the importance of person-centred care and how people living with a rare disease become experts in their condition.

Planning is well underway for the 2024 National Rare Disease Summit (the Summit), which will be held in Brisbane. Radio host, actor, comedian and television producer, Julian Morrow, is back as our Master of Ceremonies and the Summit theme is, Progress Beyond Policy. The Summit brings together key rare disease stakeholders and attendance is by invitation to ensure stakeholder balance. RVA Partner groups/organisations will be invited, so please mark the 15 and 16 November 2024 in your calendar. Save the Date emails were distributed to those invited earlier in May. Formal invitations will be distributed to those invited shortly. If you would like to attend the Summit but did not receive a Save the Date message, you are welcome to submit an Expression of Interest via this webpage. 

On Tuesday, 14 May, the Hon Dr Jim Chalmers MP (Treasurer of Australia) handed down the Albanese Government’s 2024-2025 Federal Budget. Reviewing the Federal Budget to identify any relevant measures for the rare disease sector took some time – there is some good news but work is still needed in some areas. RVA welcomes the Australian Government’s investment of $25 million to support the continued delivery of newborn bloodspot screening (NBS) expansion and consistency of conditions. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), early diagnosis is critical in rare disease for better outcomes as it enables the best immediate treatment and care. RVA was also pleased to see the inclusion of $2.6 million in 2024–2025 to support patient care improvement and general practitioner services, health professional education, condition awareness and digital resources for childhood dementia, juvenile arthritis, stroke, rare diseases and epilepsy. Read the full update regarding the 2024-2025 Federal Budget via RVA's website.

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. Learn more and download the full Position Description on RVA’s website. Applications close at 5pm AEST on 10 June 2024.

RVA is preparing for our annual Strategy Review session in July where, as an organisation, we discuss our focus areas and priorities for the future. RVA is asking all stakeholders in the rare disease sector for their input ahead of our Strategy Review meeting. Your responses will be considered and assist in informing RVA’s priorities in 2024 and beyond. The survey will take approximately 10 minutes and can be completed via Survey Monkey.

As noted in RVA's March 2024 Disability Advocacy Update, a comprehensive disability reform agenda is underway across Commonwealth and State Governments. As the national peak body for Australians living with a rare disease, RVA continues to advocate for the best outcomes for the estimated two million Australians living with a rare disease, including those impacted by a disability. RVA has continued working on several disability advocacy activities throughout May. Read the full May 2024 update via RVA's website.

As the national peak body for Australians living with a rare disease, RVA remains committed to monitoring the collaborative implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). The Action Plan is the first nationally coordinated effort to address rare diseases in Australia. As part of this ongoing work, RVA is seeking expressions of interest (EOI) from a range of rare disease stakeholders willing to take part in an online interview to share stories of change on behalf of their community, group/organisation, practice or institution. Learn more and lodge your EOI on RVA's website.

Community and Patient Preference Research (CaPPRe) is partnering with RVA and a group of community stakeholders to conduct an online survey with patients and carers in Australia. Your participation is valuable in exploring the priorities and concerns of people impacted by rare diseases when it comes to genomic testing options. The goal of this research is to provide insights into the values and preferences of the patient community to policy-makers within government who make decisions regarding public funding for genomic testing. For example, decisions regarding whether a genomic test is added to the Medicare Benefits Schedule ('Medicare'). See the flyer for more information. We encourage rare disease group/organisation community leaders/members to fill out the survey and share this opportunity with their communities.  

RVA is pleased to welcome Dr Jane Tiller to our Scientific and Medical Advisory Committee. Jane is a lawyer, genetic counsellor and public health researcher who is passionate about increasing equitable access to genomic medicine for public health outcomes. She is Ethical, Legal & Social Adviser in Public Health Genomics at Monash University and co-founded the Australian Genetic Non-Discrimination Working Group. Jane led a project from 2020-2023 about genetic discrimination in life insurance and continues to work towards policy outcomes in this area. She is co-lead of DNA Screen, a world-first study piloting the offer of preventive DNA screening to the Australian adult population.

RVA welcomes Ann Single to our Scientific and Medical Advisory Committee. Ann is the Coordinator for the Patient Voice Initiative. She’s worked in patient involvement in health technology assessment (HTA) for more than 20 years, first directing it and in communication within Scotland’s HTA agency and then sharing and developing good practice in Health Technology Assessment international’s (HTAi) Patient and Citizen Involvement Interest Group (PCIG). Chair of this group from 2019-2023, Ann now is PCIG Outgoing Chair and HTAi Vice-President, the first from the patient community sector. Ann co-edited the only book on patient involvement in HTA (version two is due in June 2025), is a faculty member of the International Patient Advocacy Management Masters Course at Rome’s Catholic University (Università Cattolica del Sacro Cuore) and has most recently published on patient involvement in HTA governance and process development. She served as a consumer representative on the Australian Government’s HTA Policy and Methods Review Reference Committee (due May 2024).

National Strategic Action Plan for Rare Diseases

The Australian Government's National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in February 2020 by the Minister for Health with bipartisan support. You can access the Action Plan via the Department of Health and Aged Care's website and a suite of summary materials via RVA's website.

Briefly, this research study seeks to understand what is valued by patients, their families and the general public when it comes to decision making about the public subsidy of high-upfront cost gene therapy. Gene therapy involves the use of genetic material to prevent and treat disease and is emerging as a treatment option for a range of health conditions including blood disorders such as haemophilia, beta-thalassemia, and sickle cell disease. As part of the study, researchers are interested in hearing from people with haemophilia B (Factor IX deficiency), beta-thalassemia and sickle cell disease, and/or their immediate family members. Researchers would like to engage in discussion about what information participants perceive to be important when considering gene therapies, including perceptions about potentially positive impacts of treatment and barriers to accessing treatment. Learn more about this research study and lodge an expression of interest.

Three video case studies have been developed as part of the Australian Government-funded Rare Disease Awareness, Education, Support and Training (RArEST) Project to highlight the challenges to mental health and wellbeing that people living with a rare disease may experience at any time. In addition to three case study videos, this web page on the Rare Awareness Rare Education (RARE) Portal, includes information about reliable resources, information and support pathways for health professionals working with people living with a rare disease.

Lyfe Languages is an open-source online platform that translates medical terminologies into Indigenous languages. It is led by young Indigenous Language Champions who work with their elders on translations. The Lyfe Languages Universal Medical Translator is now available via the Lyfe Languages web application. The web application features a purpose-built rare disease module created as part of Stream 2 of the Australian Government-funded Rare Disease Awareness, Education, Support and Training (RArEST) Project. The module provides rare disease education and support to health professionals and people living with a rare disease. Culturally appropriate Indigenous text and audio translations are recorded and made accessible for health professionals/clinicians to use with their patients via the web application, which is a living resource. New translations will be added to the platform over time. Learn more about Lyfe Languages via the official website. Alternatively, access the web application. Note: You will be prompted to create an account if you haven’t already.

The Hon Mark Butler MP, Minister for Health and Aged Care, has announced an investment of $1.89 billion for the ‘Health Research for a Future Made in Australia’ package. Read the Minister's media release on the Department of Health and Aged Care's website. RVA welcomes this announcement, which includes a commitment to a new 10-Year Reducing Health Inequities Mission, funding for 26 clinical trials, an investment of $18.8 million to progress the National One Stop Shop for clinical trials and health research, as well as continuing existing streams of life-changing Medical Research Future Fund (MRFF) funding, which has been transformative for rare disease.

In 2021 and 2022, RVA was involved in consultations with the Australian Commission on Safety and Quality in Health Care in the multi-stakeholder design and build of the National One Stop Shop platform. RVA’s written submissions highlighted the need for a nuanced approach to rare disease clinical trials in Australia and the importance for the National One Stop Shop to meet the needs of all rare disease stakeholders. Submissions also called for priority implementation of the National One Stop Shop supported by the Commonwealth. RVA looks forward to seeing this work progress to enable equitable and timely access to life saving interventions for Australians living with a rare disease. Additionally, RVA further encourages a commitment to support rare disease research with this new ‘Health Research for a Future Made in Australia’ package, including representation of rare disease in the funding for 26 new clinical trials.

Western Australia’s Department of Health and Genetic Health WA (GHWA; formerly the Genetic Services of Western Australia) invites you to provide feedback on GHWA’s draft inaugural service plan. GHWA provides genetic counselling, genetic testing, and family planning support for people impacted by certain genetic conditions. GHWA’s service plan aims to outline the future direction of the service and help to enhance the experience of those who use it. You can read the draft service plan and provide your feedback via a short survey. All responses will remain confidential and will only be used to inform the final service plan. The consultation period closes on 31 May 2024. You can visit the Department of Health's website for more about the project.