Hi RVA Supporter,

As the lead consortia member on The Navigator Project, which is funded by the Department of Health and Aged Care, Rare Voices Australia (RVA) is excited to share the first progress update since the project commenced in July 2023. The Navigator Project interim findings are based solely on data from consumer-led organisation-based telehealth services and the RARE Helpline. It is important to note these findings are based on limited available data, and strong conclusions cannot be made at this early stage. From January to April 2024, a total of 155 people contacted the telehealth services. Almost 60% of service users were individuals living with a rare or complex disease, 40% were family members or carers and the remainder were health professionals. Interestingly, most RARE Helpline service users are diagnosed with a rare disease for which there is no known Australian support group. Read the interim findings in full on RVA’s website.

RVA thanks our consortia partners, the Sydney Children’s Hospitals Network and the Perth Children’s Hospital, as well as our data sharing partners, Crohn’s Colitis Australia, Mito Foundation and Tuberous Sclerosis Australia for their ongoing dedication to this important work.

Rare Voices Australia Strategic Plan 2024-2027 – Public Version

In July, RVA held our annual Strategy Review session, which was attended by members of the RVA Board, our Scientific and Medical Advisory Committee and staff. Ahead of the Strategy Review session, we invited the rare disease sector to complete a Stakeholder Survey. Thank you to everyone who completed the survey. Your input was considered by our team during the Strategy Review session and assisted in informing RVA’s priorities in 2024 and beyond. In response to feedback from RVA Partner groups/organisations that completed the Stakeholder Survey, we will begin hosting regular RVA Partner Forums where representatives are invited to share their learnings, insights, challenges and anything else that’s relevant to rare disease with the group for discussion. We are aiming to host our first RVA Partner Forum in September and will distribute more information shortly. All RVA Partner groups/organisations will be invited.

I’m also pleased to share the public version of RVA’s Strategic Plan 2024-2027, which sets out more detail regarding how RVA will continue advocating for the best outcomes for Australians living with a rare disease. Download the public version of RVA’s Strategic Plan 2024-2027 on RVA’s website. RVA will be keeping our Stakeholder Survey open indefinitely, and we welcome all stakeholder input.

Australia and the World Health Assembly Resolution on Rare Diseases

Rare Diseases International (RDI) is working with its members, including RVA, to call for a World Health Assembly (WHA) Resolution on Rare Diseases to request the development of a Global Action Plan on Rare Diseases. The Global Action Plan on Rare Diseases will assist in ensuring Universal Health Coverage means ‘health for all’ rather than ‘health for most,’ so that no one is left behind. The Arab Republic of Egypt, the State of Qatar and Spain are co-sponsoring the WHA Resolution.

As the national peak body for Australians living with a rare disease, RVA has been liaising with RDI and the Australian Government to encourage Australia to support the WHA Resolution. There has been much interest from the Department of Health and Aged Care and discussions continue. Learn more about the WHA Resolution, including the upcoming webinar, on RVA’s website.

Human Genetics Society of Australasia 47th Annual Scientific Meeting

RVA’s Education and Advocacy Manager, Louise Healy, and Research and Evaluation Manager, Dr Falak Helwani, were delighted to attend the Human Genetics Society of Australasia’s (HGSA) 47^th Annual Scientific Meeting between 10 and 13 August 2024. The theme of the meeting was, Beyond Next Generation: The Future of Genomics. Louise was pleased to present RVA’s poster, Resources for People from Priority Populations Living with a Rare Disease: Lessons Learned and Gaps Identified, co-authored by Louise, Jess Brooklyn (RVA’s Education Project Officer) and myself. Louise also co-chaired one of the oral poster sessions.

Thank you to HGSA for donating a booth space to RVA alongside other not-for-profit organisations. It is a powerful, tangible way to demonstrate HGSA’s commitment to being person-centred. We always appreciate the opportunity to showcase RVA’s work and speak with different stakeholders. You can read our full HGSA recap article on RVA’s website.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Danielle shares her family's journey with two children diagnosed with PPA2-associated sudden cardiac death, and the importance of genetic testing in the early diagnosis of rare disease. 

As the lead consortia member on The Navigator Project, which is funded by the Department of Health and Aged Care, Rare Voices Australia (RVA) is excited to share the first progress update since the project commenced in July 2023. The Navigator Project interim findings are based solely on data from consumer-led organisation-based telehealth services and the RARE Helpline. It is important to note these findings are based on limited available data, and strong conclusions cannot be made at this early stage. From January to April 2024, a total of 155 people contacted the telehealth services. Almost 60% of service users were individuals living with a rare or complex disease, 40% were family members or carers and the remainder were health professionals. Interestingly, most RARE Helpline service users are diagnosed with a rare disease for which there is no known Australian support group. Read the interim findings in full on RVA’s website.

As the national peak body for Australians living with a rare disease, RVA remains committed to advocating for people living with a rare disease, including those with disabilities. RVA estimates that 100,000 National Disability Insurance Scheme (NDIS) participants live with a rare disease comorbidity. The August Rare Disease Disability Advocacy Update focuses on the government’s response to the Disability Royal Commission, the NDIS reform agenda, and the evolving concerns within the rare disease community. Read the full update on RVA's website.

The Australian Commission on Safety and Quality in Health Care (the Commission) has released the revised Australian Framework for National Clinical Quality Registries (2024). Read more background information and download the revised Australian Framework for National Clinical Quality Registries (2024) on the Commission’s website. Australia’s national Clinical Quality Registries collect, analyse and report information about the care and outcomes being delivered by health service organisations. They serve as a key driver of ongoing improvements in the safety and quality of the care provided to Australian consumers, including Australians living with a rare disease.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) lodged a Submission and participated in the consultation process for the Framework for Australian clinical quality registries Second Edition - consultation version. RVA is in the process of making our way through the revised Australian Framework for National Clinical Quality Registries (2024) and will provide an update to highlight key points of relevance to Australians living with a rare disease shortly.

RVA's Education and Advocacy Manager, Louise Healy, and Research and Evaluation Manager, Dr Falak Helwani, were delighted to attend the Human Genetics Society of Australasia’s (HGSA) 47th Annual Scientific Meeting between 10 and 13 August 2024. The theme of the meeting was, Beyond Next Generation: The Future of Genomics. At the meeting, attendees heard from a variety of Australian and international experts speaking on topics ranging from emerging gene therapies and pharmacogenomics, to integrating genomics into medicine and novel approaches to genetic counselling. We also heard updates from several RVA research partners, including members of the GenSCAN Consortium. Louise Healy was pleased to present RVA’s poster, Resources for People from Priority Populations Living with a Rare Disease: Lessons Learned and Gaps Identified, co-authored by Louise, Jess Brooklyn (RVA’s Education Project Officer) and Nicole Millis (RVA’s Chief Executive Officer). Louise also co-chaired one of the oral poster sessions. Read our full recap, and see the photos from the conference, via RVA's website.

RVA is excited to welcome Lucinda Walker as part of our pilot higher degree researcher placement program! Lucy is a second year PhD student at the Institute for Molecular Biosciences at the University of Queensland and is very excited to be undertaking a placement at RVA. In her PhD research, Lucy uses toxins from Australian trees to study the mechanisms of pain perception in people. She particularly enjoys the aspects of her studies that enable her to mentor students and have a wider impact on the community. These experiences encouraged Lucy to look for opportunities where she can use her scientific knowledge to have a more direct impact on people. “Starting my placement at RVA has been fantastic as it has enabled me to do exactly this. To my surprise, it has also given me a completely new perspective on the importance and impact of scientific research in the wider community,” Lucy says.

RVA, with support from Western Australia’s (WA) Office of Population Health Genomics (OPHG), has progressed aspects of the Australian Government’s National Strategic Action Plan for Rare Diseases with a focus on mental health and wellbeing. Two Mental Health and Rare Disease fact sheets, customised for WA, are available to download. Please feel free to share these resources widely with your networks to help spread the word. Read how the fact sheets were developed via RVA's website.

Download the Fact Sheets

Mental health and Rare Disease fact sheet for consumers [PDF]

Mental health and Rare Disease fact sheet for health professionals [PDF]

Rare Diseases International (RDI) is working with its members, including RVA, to call for a World Health Assembly (WHA) Resolution on Rare Diseases to request the development of a Global Action Plan on Rare Diseases. The Global Action Plan on Rare Diseases will assist in ensuring Universal Health Coverage means ‘health for all’ rather than ‘health for most,’ so that no one is left behind. The Arab Republic of Egypt, the State of Qatar and Spain are co-sponsoring the WHA Resolution. As the national peak body for Australians living with a rare disease, RVA has been liaising with RDI and the Australian Government to encourage Australia to support the WHA Resolution. There has been much interest from the Department of Health and Aged Care and discussions continue. Learn more about the WHA Resolution, including the upcoming webinar, on RVA’s website.

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.

According to researchers at the University of Adelaide, a genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way. A team at the Robinson Research Institute led by Dr Lachlan Jolly, Head of the University of Adelaide’s School of Biomedicine's Neurobiology Research Group, and Professor Jozef Gecz, Head of the School of Medicine’s Neurogenetics program, have developed a way to transcribe genetic variations into RNA to help determine if they are disease causing and therefore improve genetic diagnosis. Learn more about this research via The University of Adelaide’s website.

These findings are part of the Pathogenic Evaluation of Recalcitrant Variants by SYStematic Transactivation (PERSYST) Study, one of RVA’s research partnerships. This study strongly aligns with key priorities and actions in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) and targets undiagnosed patients, a priority population in the Action Plan. As a member of the Consumer Advisory Group (CAG) for this project, RVA provides broad rare disease consumer and policy advice and has been involved in the co-design of participant information forms and other documentation. RVA thanks the research team for actively involving RVA in this project and taking onboard our advice. The research team uses the Guidelines for Community Involvement in Genomic Research to actively engage the CAG in a meaningful way. Learn more about our research partnerships via RVA’s website.

Are you a Western Australian who has participated in or is interested in joining (either for yourself or a person you care for) a clinical trial? Please complete this consumer survey before 13 September. This survey will help Western Australia's (WA) Department of Health to gather your insights regarding clinical trials in WA. Your responses will help to provide an understanding about how to improve capacity and access for Western Australians to clinical trials. The survey should take approximately 15 minutes to complete, depending on the level of feedback you choose to provide. Your responses will remain confidential and will be used to inform the development of the WA Clinical Trials Roadmap. 

The Lancet Global Health has published an International Rare Diseases Research Consortium (IRDiRC) paper, Global health for rare diseases through primary care. Co-authored by RVA Scientific and Medical Advisory Committee member, Clin/Prof Gareth Baynam, the paper presents the work of the IRDiRC Primary Care Task Force (the Task Force), which brought together a multi-stakeholder group of experts to assess the priority research areas in primary care. The article states that “Primary care is foundational to health systems and is the only accessible care in some locations; it is, therefore, critical for the wellbeing of people living with rare diseases.” Additionally, the Task Force’s findings, which are explored in the article, align with many aspects of the Australian Government’s National Strategic Action Plan for Rare Diseases. The Australian Government has also developed Australia’s Primary Health Care 10 Year Plan 2022–2032 (the Plan) to strengthen primary health care as part of the health system. Download the Plan via the Department of Health and Aged Care's website.

EURORDIS - European Rare Diseases Organisation has launched its latest Rare Barometer survey, which is open to all people living with a rare disease and their families. The survey is intended to assist with working towards and advocating for people with rare diseases to access their rights and participate in society on an equal basis with others. The survey will take approximately 20 minutes to complete and is available in 25 languages. The results will be shared with RVA as the national peak body for Australians living with a rare disease. The survey closes on 8 September 2024. Learn more and complete the survey link via this webpage.