A Word From Rare Voices Australia's CEO

Hi RVA Supporter,

There have been several exciting developments since our last Rare Awareness Rare Education (RARE) Portal eNewsletter in December 2023, including the RARE Portal turning one!

The “provision of an accessible multi-purpose digital repository of information and resources for rare diseases, including available care and support services” is a key deliverable of the Australian Government’s National Strategic Action Plan for Rare Diseases. Initial development of the RARE Portal was funded by the Australian Government with Rare Voices Australia (RVA) receiving $1 million over three years from 1 July 2021 to 30 June 2024 to lead the collaborative development of the RARE Portal and other education activities. We are pleased that funding will continue beyond 30 June 2024 for the RARE Portal.

Much has been achieved over the last three years with initial funding facilitating the extensive multi-stakeholder consultation process to progress RARE Portal development. The funding has also enabled RVA to consult with peak bodies and other experts to produce several education materials, including resource collections, reports and webinars for priority populations identified in the Action Plan, including the Aboriginal and Torres Strait Islander community; the multicultural/culturally and linguistically diverse community (CALD); and the regional, remote and rural community. Thank you to the National Aboriginal Community Controlled Health Organisation (NACCHO); the Australian Alliance for Indigenous Genomics; the Federation of Ethnic Communities’ Councils of Australia (FECCA); the Australian Multicultural Health Collaborative; and the National Rural Health Alliance for consulting with RVA to inform these education materials.

Celebrating What Has Been Achieved and Looking Ahead

RVA looks forward to continuing to progress the RARE Portal’s development alongside the rare disease sector. We especially thank RVA Partner group/organisation leaders who have shown so much enthusiasm about the RARE Portal and a genuine willingness to work with RVA towards the best outcomes for Australians living with a rare disease. Our RARE Portal team will continue to reach out to RVA Partner groups/organisations to assist with developing individual rare disease pages.

RARE Helpline

The RARE Helpline, which is housed on the RARE Portal, surpassed 200 queries earlier this year! This service aims to provide timely access to information and answer key questions people living with a rare and complex disease often face. 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; and assists in connecting people with existing health services and/or professionals where possible. Our RARE Helpline team can be reached on 0499 549 629 on Monday to Friday from 9am – 5pm (AEDT). People are also welcome to fill out the form on the RARE Helpline webpage and one of our team members will respond as soon as possible. The RARE Helpline is one of three key components of The Navigator Project, funded by the Department of Health and Aged Care’s Rare and Complex Disease Telehealth Nurse Program grant. Please note that the RARE Helpline is not an emergency service.

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. The survey closes on 30 June 2024.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Resources on the RARE Portal

The Rare Disease Awareness, Education, Support and Training (RArEST) Project is a collaboration between RVA, the University of New South Wales, the University of Western Australia and Macquarie University to deliver rare disease awareness resources, education, support and training. Learn more via RVA’s website.

As the RArEST Project winds up on 30 June, you will find several resources listed on the RARE Portal on relevant pages. Below, we've highlighted RArEST Project resources that have recently launched.

• Supporting the mental health and wellbeing of people living with a rare disease (information page for health professionals)

• Mental health and wellbeing support for Australians living with a rare disease (information page for the rare disease community)

• Rare Disease 101 Australia – bonus material added (e-Learning modules for health professionals)

• National Recommendations for Rare Disease Health Care (outline how Australian health professionals can provide high quality care to people living with a rare disease, their families, and other carers)

• Lyfe Languages universal medical translator (the web application features a purpose-built rare disease module)

• Digital mental health and wellbeing fact sheets 

You can find all of the RArEST Project deliverables on RVA's website.

Health professionals can also register their interest in future Rare Disease Project ECHO® sessions. Register for updates.

National Strategic Action Plan
for Rare Diseases

The 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. The RARE Portal is one of the key deliverables of the Action Plan. Development of the RARE Portal has been funded by the Australian Government.

RARE Spotlight

RARE Helpline

The RARE Helpline provides service navigation support for rare and complex diseases. It aims to provide timely access to information and answer key questions people living with a rare and complex disease often face.

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 and/or professionals where possible

RARE Helpline

Contact Information and Hours

Phone: +61 (0)499 549 629
Hours: Monday to Friday 9.00am – 5.00pm (AEST)

Note: In the event of an emergency,

call an ambulance on 000 or these support lines:

Suicide Call Back Service – 1300 659 467 

Lifeline 24-hour counselling – 13 11 14 

13Yarn - 13 92 76

Additions to the RARE Portal Since 
December 2023

• Rare Disease Classifications (information page, information contributed by Dylan Gration, Manager - Data and Digital Linkages at the Western Australian Register of Developmental Anomalies and Rare Diseases (WARDARD), and Digital Advisor at the Clinical Centre of Expertise for Rare and Undiagnosed Diseases at the Rare Care Centre)

• Information on Genetic Services (information page; information contributed by Lauren Hunt (Chief Operating Officer, Human Genetics Society of Australasia) and Dr Emma (Elizabeth) Palmer (Clinical Geneticist, Sydney Children’s Hospitals Network)

• Supporting the mental health and wellbeing of people living with a rare disease (information page for health professionals)

• Mental health and wellbeing support for Australians living with a rare disease (information page for the rare disease community)

• Addison’s Disease (Primary Adrenal Insufficiency) (rare disease page, co-developed with RVA Partner, Australian Addison's Disease Association, Inc.) 
• Scleroderma (rare disease page, co-developed with RVA Partner, Scleroderma Australia) 
• Systemic Scleroderma (rare disease page, co-developed with RVA Partner, Scleroderma Australia) 
• Localised Scleroderma (rare disease page, co-developed with RVA Partner, Scleroderma Australia) 

• Cystic Fibrosis (CF) (rare disease page, co-developed with RVA Partner, Cystic Fibrosis Queensland) 

• Mitochondrial Diseases (group of conditions, co-developed with RVA Partner, Mito Foundation) 

• List of Mitochondrial Diseases (co-developed with RVA Partner, Mito Foundation) 

• FOXG1 syndrome (rare disease page, co-developed with RVA Partner, FOXG1 Research Foundation Australia)

• Neuromuscular Conditions (group of conditions) (rare disease page, co-developed with RVA Partner, Neuromuscular WA on behalf of RVA Partner, Muscular Dystrophy Foundation Australia) 

• Muscular Dystrophy (group of conditions) (rare disease page, co-developed with RVA Partner, Neuromuscular WA on behalf of RVA Partner, Muscular Dystrophy Foundation Australia) 

• WHIM Syndrome (rare disease page)

• Facioscapulohumeral Muscular Dystrophy (FSHD) (rare disease page, co-developed with RVA Partner, FSHD Global Research Foundation)

• 15q11.2-13.1 Duplication Syndrome (Dup15q Syndrome) (rare disease page, co-developed with RVA Partner, Dup15q Australia) 

• Fabry Disease (rare disease page, co-developed with RVA Partner, Fabry Australia)

• Acrodysostosis (rare disease page) 

• Behçet’s Disease (rare disease page) 

• Infantile Dystonia-Parkinsonism (rare disease page) 

• Evans syndrome (rare disease page)

Thank you to RVA Partner, the Australian Addison's Disease Association, for codesigning the Addison’s Disease (Primary Adrenal Insufficiency) page with the RARE Portal team. The goal of the Australian Addison's Disease Association is to provide valuable information and resources for those with Addison’s disease and adrenal insufficiency as well as their carers and medical practitioners. 

Thank you to RVA Partner, Scleroderma Australia, for codesigning the Scleroderma, Systemic Scleroderma and Localised Scleroderma pages with the RARE Portal team. Scleroderma Australia was established to facilitate a national representative voice in supporting the scleroderma community across Australia.

Thank you to RVA Partner, Cystic Fibrosis Queensland, for codesigning the Cystic Fibrosis (CF) page with the RARE Portal team. Cystic Fibrosis Queensland provides support, services, and hope to people living with cystic fibrosis in Queensland.