Author: Sarah Cannata

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. RVA would like to acknowledge our consortia partners, the Sydney Children’s Hospitals Network, the Perth Children’s Hospital, and our data sharing partners, Crohn’s Colitis Australia, Mito Foundation and Tuberous Sclerosis Australia for their ongoing dedication to this important work. Background information about The Navigator Project.

Interim Evaluation Findings: January to April 2024

The Navigator Project interim findings reported below are based solely on data from consumer-led organisation-based telehealth services and the RARE Helpline. Ethics approvals for data sharing from the hospital-based Nurse Navigator Programs (NNP) were not in place during the evaluation period (January to April 2024). It is important to note, these findings are based on limited available data, and strong conclusions cannot be made at this early stage of The Navigator Project.

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. Of those who reported their jurisdiction and rurality status, 71% lived in New South Wales, Victoria or Queensland. Importantly, 44% lived in a rural, regional or remote area. Given only 27% of Australians live outside major cities, this suggests these telehealth services may be reaching a higher proportion of people in regional, rural, and remote Australia. More data is needed to confirm this observation.

The three most common reasons individuals contacted the services were:

• to get information and/or resources about a disease
• to request access to health services or health system navigation and,
• requests for social support

On average, telehealth service staff recorded 3 interventions for each call, and 115.9 minutes responding to each individual request.

Lessons Learned and Updates from Each Service

RARE Helpline

• Most RARE Helpline service users are diagnosed with a rare disease for which there is no known Australian support group.
• A significant portion of time spent responding to RARE Helpline service users is related to provision of emotional support and reducing overwhelm and feelings of isolation through listening to people’s stories and validating and normalising their experiences.
• Additionally, the Helpline works to build users knowledge, confidence and capacity to self-advocate in the different support systems they need to navigate.
• Data from the RARE Helpline service has highlighted key gaps, including gaps for specific disease areas that RVA advocacy staff were able to feed back to the relevant community organisation.
• Gaps and needs highlighted by the RARE Helpline are actively informing development of the Rare Awareness Rare Education (RARE) Portal.

Consumer-led Organisation Based Telehealth Services

Symptom management support and advice on access to health services or health system navigation were the most common reasons for contact among the consumer-led organisations. Compared with interventions provided to RARE Helpline service users, more users of these disease-specific telehealth services were provided with symptom management and treatment-related information. Consumer-led organisations  have reported that being part of The Navigator Project has added value to their services. All consumer-led organisations have incorporated a user experience survey based on the survey developed for the RARE Helpline and agreed to collect additional data/refine data from their services to support evaluation of The Navigator Project. This includes additional demographic data, which will be used to support improvements that better meet the needs of their communities.

Hospital-based Nurse Navigator Programs

Since June 2023, the NNPs have been developing their service models and in April 2024 they soft launched their services. Ethics was approved in July 2024 and data sharing with RVA for evaluation of The Navigator Project has commenced. Data from the NNPs will be included in the next progress update towards the end of 2024.

Key Milestones to Date

Background: The Navigator Project

The objectives of The Navigator Project are to: 

• Support people living with rare and complex diseases, their families and carers.
• Support people to improve their health literacy and engage with the health system.
• Link people with existing health services and/or professionals to access specialised or targeted support to manage complex care needs.
• Target telehealth nurse-led support for people with rare and complex conditions, where there is limited information on their condition or access to services, where they are in situations of acute need, or where they are unable to self-manage their condition.
• Increase the potential for system improvement as the data collection and evaluation components of The Navigator Project will generate evidence to guide future government investment for service navigation.

The Navigator Project involves implementing two models of patient navigation support and collecting data from a third model of telehealth services delivered through three consumer-led rare and complex disease organisations.

Telehealth Services

1. The RARE Helpline is a national, non-disease specific telehealth service that aims to provide timely access to information and answer key questions from people living with a rare and/or complex disease. The RARE Helpline is staffed by RVA personnel, including those with qualifications/training in psychology, social work and Mental Health First Aid.

2.Telehealth Nurse Service Navigation Trial Sites: Two discrete non-disease specific services, attached to the clinical genetic services of the Sydney Children’s Hospitals Network (the Rare Kids Navigator Project) and Perth Children’s Hospital (Rare Care Centre Navigator Project). The telehealth nurses provide intensive care coordination and, in some instances, case management.

3. Three consumer-led rare and complex disease organisations providing telehealth nurse services:

• Crohn’s and Colitis Australia
• Mito Foundation
• Tuberous Sclerosis Australia

Data from each of these models will facilitate an evaluation of the impact and benefit to individuals, families, carers, the health system, and the overall cost-effectiveness and sustainability of each model.

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.

Rare Diseases International (RDI) is working with its members, including Rare Voices Australia (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.  

Alignment with the National Strategic Action Plan for Rare Diseases

‘State, national and international partnerships’ are one of the critical enablers of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). ‘State, national and international partnerships as well as cross-sector collaboration’ is also Theme #7 in the Achieving Progress section of the Action Plan.

Interested in Learning More About the World Health Assembly Resolution on Rare Diseases?

RDI, the Arab Republic of Egypt, the State of Qatar and Spain are co-hosting the Towards a WHA Resolution on Rare Diseases 2025 webinar on 30 August. Learn more about the webinar and register to join the session via RDI’s website.

Newborn bloodspot screening (NBS) is an important program that supports the earliest possible diagnosis of some rare diseases. Rare Voices Australia (RVA), alongside other rare disease stakeholders, including RVA Partner groups/organisations, have called for increased equity, timeliness and consistency of screening for several years. While there is more work to do, the Commonwealth’s investment and State Governments’ commitment to a nationally consistent NBS Program has resulted in important progress being made (scroll down to the bottom of the article for more background information).

Newborn Bloodspot Screening Updates: July 2024

• Five conditions were identified and considered for technical advice: Niemann-Pick disease, Batten disease (CLN2), Fabry disease, Krabbe disease and MPS III (Sanfilippo syndrome)
• Based on the technical advice provided by the NBS Program Management Committee (PMC), state Health Ministers have decided that the five conditions listed above will not be referred to the Medical Services Advisory Committee (MSAC) for health technology assessment   

As the national peak body for Australians living with a rare disease, RVA has engaged with the Australian Government to reiterate the importance of transparent and publicly available information regarding how technical advice is developed and the basis for the recommendations provided. This information equips rare disease groups/organisations with important information so that they are informed and can consider the best next steps, including evidence gathering or alternative pathways for earliest possible diagnosis.

RVA has also repeatedly raised the importance of consumer input into the development of technical advice given this is a critical part of the NBS decision making pathway outlined by the Commonwealth. Additionally, RVA has been engaging with the RVA Partner groups/organisations (rare disease groups/organisations) impacted by the recent technical advice given regarding next steps and will continue doing so. RVA provides customised mentorship and education to our RVA Partner groups/organisations. Learn more on our Become an RVA Partner web page.

Additional Background Information: Newborn Bloodspot Screening

Australian babies have been screened using NBS since the 1960s and while there is more work to do, several promising developments have been progressed in recent times, including the Australian Government’s investment of $25 million in the 2024-25 Federal Budget to support the continued delivery of NBS expansion and consistency of conditions. Additionally, for the first time in 60 years, Australia has an agreed national list of NBS conditions and there is specific funding to achieve consistency across the country, cementing Australia as a world leader in NBS. Learn more about Australia’s NBS program on the Department of Health and Aged Care’s website.

In May 2024, the Hon Mark Butler MP, Minister for Health and Aged Care, announced the Australian Government’s commitment to developing a National Health and Medical Research Strategy (the Strategy). Read the media release. The aim of the Strategy is to help target funding and strengthen Australia’s world-leading health and medical research capabilities into the future to further improve the health and lives of Australians.

Recently, the Department of Health and Aged Care launched an Australian Health and Medical Research Workforce Survey (the Survey), which is part of extensive consultations that will contribute supporting evidence to the development of the Strategy and future policies.  The aim of the Survey is to understand the demographic features, work environment, challenges, and motivations of health and medical researchers across Australia, including those in research support roles.

One of the three foundation principles in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) highlights the need for sustainable systems and workforce, which will also assist with implementation across all three key Action Plan Pillars (Awareness and Education; Care and Support; and Research and Data). More specifically, the following Priorities in the Action Plan emphasise the importance of embedding research into clinical care for people living with a rare disease.

Priority 1.3: ‘Develop a national rare disease workforce strategy that responds to current and future demands, including the impact of genomics’

Priority 3.4: ‘Translate research and innovation into clinical care; clinical care informs research and innovation’

Why is this important for Australians living with a rare disease?

The importance of the health and medical research workforce for people living with a rare disease and their families cannot be overstated. This workforce is vital to advancing understanding of the mechanisms of rare diseases, identifying and implementing new and novel health technologies, and developing best practice care and support.

Driven by the inherent lack of knowledge, treatments, and evidence-based care and support in rare disease, the overwhelming majority of rare disease stakeholders, including people living with a rare disease and rare disease representatives, have experience advocating for, and participating in, research.

Rare Voices Australia encourages individual rare disease stakeholders who have had either direct or supportive roles in research, including those in the not-for-profit space, to take part in this Survey. The Survey is open until 9 August 2024 and should take no longer than 10 to 15 minutes to complete.

Participate in the Survey

Access the Survey.

June has been a busy month for Rare Voices Australia (RVA) in the disability space with engagement with government on several of the key disability reform initiatives currently underway. As noted in RVA’s March Disability Advocacy Update, a comprehensive disability reform agenda is underway across Commonwealth and State Governments.

RVA is particularly pleased that we have been invited to present at some key forums on behalf of Australians living with a rare disease. Thanks to Louise Healy, RVA’s Education and Advocacy Manager, and Fiona Lawton, RVA’s Disability Advocacy Manager, for representing RVA and the estimated two million Australians living with a rare disease.

National Disability Insurance Scheme Taskforce – Provider and Worker Registration

On 7 May, RVA lodged a submission with the National Disability Insurance Scheme (NDIS) Provider and Worker Registration Taskforce (Taskforce). This submission was directly informed by 15 RVA Partner groups/organisations that participated in our virtual roundtable engagement session in April 2024. Read the submission.

On 20 June, RVA was invited to a private session with Taskforce member, the Hon Vicki O’Halloran AO CVO, former Administrator of the Northern Territory and former President of National Disability Services Australia. This was an excellent opportunity to further explore RVA’s position regarding mandatory registration and the need to build workforce capability to meet the needs of people living with a rare disease and disability impacts.

Joint Standing Committee on the National Disability Insurance Scheme – Participant Experience in Rural, Regional and Remote Australia

On 28 June, RVA was invited to a public hearing to present to the Joint Standing Committee on the NDIS (the Committee) regarding their Inquiry into the participant experience of people living in rural, regional and remote areas. This invitation was based on the strength of RVA’s submission to the Committee in February 2024. We thank the RVA Partner groups/organisations that contributed examples of their lived experience for the submission. Read the submission.

Louise and Fiona braved the Canberra winter to attend in person and represent the rare disease sector, highlighting:

• The need for person-centred, place-based delivery of disability services
• Opportunities of alternative commissioning
• The need for a re-design of the service delivery model and increased workforce capacity and capability to meet the needs of Australians living with rare disease

RVA is committed to ensuring the conversation moves from equity of access to disability services, to one that considers equity of outcomes in terms of quality of life for Australians living with a rare disease and their families/carers.

RVA is grateful for these opportunities and continues to actively seek representation on key co-design panels and forums.

Draft Legislation – National Disability Insurance Scheme Amendment Bill 2024

On 27 March 2024, the Hon Bill Shorten MP, Minister for the NDIS, tabled draft legislation, the NDIS Amendment (Getting the NDIS Back on Track No. 1) Bill 2024 (the Bill) to amend the NDIS Act 2013 to ensure sustainability and to reflect some recommendations from the NDIS Independent Review. The Bill was referred to the Community Affairs Legislation Committee for inquiry. On 17 May, RVA provided a submission to the Committee and noted that some of our proposed amendments were made to the draft Bill. However, RVA remains concerned that key elements of the Bill need further amendment to ensure it is fit-for-purpose for all current and future NDIS participants, particularly people living with complex rare disease and disability impacts.

The Committee have tabled their report this month with recommendations to pass the (slightly) amended draft Bill. The Bill was passed by the House of Representatives on 5 June after a range of new parliamentary amendments were proposed by the government and is currently before the Senate.

Fiona continues to closely monitor the passage of this legislation and RVA will provide additional submissions to inquiries as required.

The National Health and Medical Research Council (NHMRC) is currently reviewing the Statement on Consumer and Community Involvement in Health and Medical Research 2016 (Consumer Statement). The aim of the Consumer Statement is to guide research institutions, researchers, consumers and community members regarding the active involvement of consumers and community members in all aspects of health and medical research. The Consumer Statement outlines the benefits and levels of consumer and community involvement in research. Consumers and community representatives, researchers and research administrators, peak bodies, advocates, funders and government have been invited to contribute at all stages of the review.

On 24 April 2024, as the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) attended one of a series of workshops, led by the Australian Health Research Alliance (AHRA), to address specific discussion questions around content for the revised Consumer Statement.

All stakeholders—both individuals and organisations—were invited to contribute written feedback to address these discussion questions via an online survey. RVA contributed written feedback to this consultation informed by the Australian Government’s National Strategic Action Plan for Rare Diseases and learnings from RVA’s Research Partnerships program. This survey has now closed.

In brief, RVA’s written contribution to this consultation spoke to the ethical imperative of involving consumers and community in all types of research. We also made strong recommendations to include accountability, transparency, equity, diversity, respect, as well as recognition for the autonomy of roles in research partnerships as overarching values in the Consumer Statement. RVA’s submission mentioned the need to include the role of consumers and community in reporting to research funders and research institutions, and the importance of inviting consumers and community into the reporting process.

RVA’s full submission will be publicly available in time.

RVA looks forward to the outcome of this revision and anticipates more practical guidance that makes all stakeholders accountable for effective consumer and community involvement in health and medical research.