Hi RVA Supporter,

As I write this, it’s hard to believe that another month is almost over. I have just returned from Sydney and a two-day leadership course facilitated by the Harvard Club of Australia – Innovative People Practices for Non-Profit Success. I feel it’s important for leaders to proactively engage in personal development, and I look forward to applying my learnings from this experience.

2024 National Rare Disease Summit 

The 2024 National Rare Disease Summit (the Summit) is now only four months away! The Summit theme is Progress Beyond Policy, and radio host, actor, comedian and television producer, Julian Morrow, is joining us once again as our Master of Ceremonies. Taking place on 15 and 16 November in Brisbane, the Summit brings together key rare disease stakeholders and attendance is by invitation to ensure stakeholder balance. Rare Voices Australia’s (RVA) team has been working on the Summit for many months now and invitations have been distributed to those invited. If you would like to attend the Summit but did not receive an invitation, you are welcome to submit an expression of interest via this web page. Thanks to those who have already registered! We look forward to seeing you in November. Please note that early bird pricing for the Summit has been extended until Friday 16 August, 2024. 

RARE Helpline for Rare and Complex Diseases Surpasses 300 Queries

The RARE Helpline:

• Supports people to connect with existing information that is reliable

• Provides resources that respond to people’s specific needs

• Helps to increase people’s health literacy and engagement with care and support services

• Assists in connecting people with existing health services

• Highlights gaps in services currently available

I’m pleased to share that our RARE Helpline team has responded to more than 300 queries from people living with rare and complex diseases. Staffed by appropriately trained RVA personnel, the RARE Helpline is available from Monday to Friday (except public holidays), from 9am to 5pm AEST. The RARE Helpline connects people to services, including RVA Partner groups/organisations, to assist them in accessing informed and useful resources. Please share information about the RARE Helpline as widely as possible.

Important Rare Disease Advocacy Updates

As the national peak body for Australians living with a rare disease, RVA’s work is non-disease specific and is based on the commonalities of rare disease. Our advocacy focuses on rare disease policy, processes and systems. We advocate for all rare disease communities and will continue engaging in work that is important and time critical to the rare disease sector. This includes rare disease disability advocacy and seeking updates from the Australian Government regarding the Health Technology Assessment (HTA) Review Reference Committee’s final report into the HTA Policy and Methods Review. RVA will continue having robust discussions with the National Disability Insurance Agency and the Australian Government about rare diseases and disability and newborn bloodspot screening (NBS) to advocate for the best outcomes for Australians living with a rare disease. I encourage you to read the articles about NBS and rare disease disability advocacy in this month’s newsletter.

Congratulations to Rare Disorders NZ

Aotearoa New Zealand’s first Rare Disorders Strategy (the Strategy) was released this month. The Strategy was developed by Manatū Hauora | Ministry of Health, with input and advice from Rare Disorders NZ as part of the Reference Group representing the collective voice of rare in Aotearoa. Congratulations to Rare Disorders NZ for their ongoing advocacy and contribution to the Strategy! “State, national and international partnerships” is a critical enabler of the Australian Government’s National Strategic Action for Rare Diseases and RVA was pleased to meet with New Zealand’s Ministry of Health to provide input into the Strategy.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Kathleen shares how Huntington's disease has impacted generations of her family, and the impact of genetic testing.

Newborn bloodspot screening (NBS) is an important program that supports the earliest possible diagnosis of some rare diseases. 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. Five conditions were recently 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 impacted by the recent technical advice given regarding next steps and will continue doing so. Read more background information about the NBS via RVA's website.

On 28 June 2024, RVA was invited to a public hearing to present to the Joint Standing Committee on the National Disability Insurance Scheme (the Committee) regarding their Inquiry into the participant experience of people living in rural, regional and remote areas. Fiona Lawton, RVA’s Disability Advocacy Manager, and Louise Healy, our Education and Advocacy Manager, represented RVA as the national peak body for Australians living with a rare disease.

RVA remains concerned that some of the questions and comments from policymakers at the public hearing indicate an ongoing lack of understanding about the important link between rare diseases and disability, and most importantly, how this impacts a significant number of Australians living with a rare disease. (RVA estimates that 100,000 NDIS participants live with a rare disease comorbidity.) Certain questions displayed a very limited understanding of the arbitrary line policymakers often draw between health and disability supports, creating significant gaps in care and support for those with a disability caused by a rare disease. RVA attempted to raise these concerns during the public hearing. We have also responded to questions on notice regarding these matters, expressing our concerns and highlighting common experiences raised during our virtual roundtable engagement session in April 2024 with RVA Partner groups/organisations.

You can read the questions and comments raised in the public hearing Hansard transcript. RVA believes our responses to the questions on notice will be published on the Inquiry web page.

RVA will continue having robust discussions with the National Disability Insurance Agency, the Hon Bill Shorten MP, the Minister for the National Disability Insurance Scheme, and other policymakers to advocate for rare disease data collection and rare disease expertise to inform current reform activities and policy codesign.

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.

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]

Read how the fact sheets were developed via RVA'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. The Survey is open until 9 August 2024 and should take no longer than 10 to 15 minutes to complete. You can learn more about why this work is important for Australians living with a rare disease via 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.

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.  

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.