Rare Disease Community
The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
An estimated 2 million Australians live with a rare disease, and it is prominently cited that there are more than 7,000 different rare diseases.1 There is no cure for many rare diseases, therefore, quality of life and extending life expectancy are vital. More information about rare diseases.
While there is large variation among rare diseases, people living with a rare disease face common challenges. These include the struggle for a timely and accurate diagnosis, limited care and support options and a lack of research into rare diseases, despite recognised gaps in knowledge. People living with a rare disease and their families also experience financial impacts, either due to out-of-pocket costs associated with care and support, or due to loss of income associated with taking on a carer role.1 Australians living with a rare disease need integrated care and support services.
If you are aware of any additional information that may benefit stakeholders with an interest in this page or another page on the Rare Awareness Rare Education (RARE) Portal, or if you notice any broken links or misleading information, please let us know via the Contribute page.
Quick Page Search:
Emergency Management | Policy | Information for People Living With A Rare Disease | Research | Rare Disease Organisation Leaders | Priority Populations | Other Information | References
Visits to hospital emergency departments are common for people living with a rare disease. To find your closest emergency department, you can visit healthdirect’s online service finder. In a health emergency, please call triple zero (000), and ask for an ambulance. If you live in rural or remote Australia, you can contact the Royal Flying Doctor Service which offers 24-hour aeromedical emergency services in certain states and territories. Please visit Royal Flying Doctor Service (Contact the Flying Doctor) to find out if the services are available in your state, and the relevant contact details. For more information, please visit healthdirect’s hospital emergency department information page.
Launched in 2020 by the Australian Government, the National Strategic Action Plan for Rare Diseases (the Action Plan) is the first nationally coordinated effort to address rare diseases in Australia. Due to the great complexity, significant unmet need and critical urgency associated with rare diseases, systemic reform is required. The Action Plan represents the views of the rare disease sector and outlines a comprehensive, collaborative and evidence-based approach to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease.
Information for People Living with a Rare Disease
While there are many different rare diseases, they share countless challenges and commonalities. These challenges include the struggle for a timely and accurate diagnosis, limited care and support options, and a lack of research into rare diseases, despite the recognised gaps in knowledge. The prominent role of families and carers is widely recognised in the rare disease community. People also commonly experience financial impacts, either due to out-of-pocket costs associated with care and support, or loss of income associated with taking on a carer role.1
- Department of Health and Aged Care: Chronic Disease Management Patient Information
- Australia’s Rare Disease Landscape – better understand rare disease healthcare in Australia and the policy environment
- Patient Voice Initiative (PVI) – guide to having a voice in Australia’s healthcare system
- Mental health resources
- Disability support resources
- Rare Disease Day – global campaign to raise awareness among the general public and decision-makers about rare diseases and their impact on people’s lives
- Palliative care resources
Further information about services and resources relevant to people living with rare disease can be found at the RARE Portal National Services page or listed by state: Australian Capital Territory Services , New South Wales Services , Northern Territory Services , Queensland Services , South Australia Services , Tasmania Services , Victoria Services and Western Australia Services.
For key decision-makers at all levels, greater knowledge of rare diseases can facilitate more responsive and appropriate services for people living with a rare disease and their families and carers. For many rare diseases, there are several barriers to effective research and no active research programs. One of the biggest challenges is that rare diseases have small numbers and are often complex. For many people living with a rare disease, participation in a clinical trial may be the only way to access treatment.1
- What is a clinical trial?
- Australian clinical trials – a joint initiative between the National Health and Medical Research Council and the Department of Industry, Innovation and Science
- International clinical trials – maintained by the National Library of Medicine at the National Institutes of Health based in the United States of America
- Australian Government Department of Health and Aged Care: Principles for consumer involvement in research funded by the Medical Research Future Fund
Rare Disease Organisation Leaders
Rare disease organisations can understand, capture and communicate the lived experience of those impacted by a rare condition in a way no one else in the sector can. The rare disease community has specific and essential expertise in living with a rare condition and understanding the challenges, needs and burdens these conditions impose. As a result, rare disease organisations and their leaders are an essential part of the sector.
- Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia – collates a range of credible resources and tools to help rare disease organisations to build and strengthen their capacity to contribute to a reputable, strong and effective rare disease sector
- Australia’s Rare Disease Landscape – understanding of Australia’s rare disease landscape and policy environment
- Amplifying Advocacy Using the National Strategic Action Plan for Rare Diseases – provides information, case studies and examples to highlight the power of the Action Plan in advocacy
- Writing Effective Government Submissions – A Guide for Rare Disease Organisations – developing the capacity of rare disease organisations to represent and advocate for people living with a rare disease and their families
- Health Technology Assessment Policy and Methods Review – Rare Disease Sector Webinar – provides information about health technology assessment (HTA) and the Australian Government Department of Health and Aged Care’s HTA Policy and Methods Review (the HTA Review)
- How to Illuminate Landmarks to Celebrate Awareness Days – the basics of illuminating landmarks to showcase a united front and shine a light on Rare Disease Day or a specific rare disease
- Facebook Groups and Social Media Risk Training for Rare Disease Organisations – assist rare disease organisations to build engaged and thriving social media groups, and effectively manage the risks to themselves and others
- Applying Mental Health First Aid in a Rare Disease Context – a companion guide designed to assist those working with the rare disease community with Mental Health First Aid
- Information and resources on newborn bloodspot screening (NBS)
Action and policy for rare diseases must recognise all Australians and focus on access and equity for each priority population identified in the Action Plan. As such, relevant implementation recommendations in the Action Plan identify the need to undertake targeted activities to improve health and wellbeing outcomes for priority populations, several of which are listed below.1
Aboriginal and Torres Strait Islander people
While Aboriginal and Torres Strait Islander people are not necessarily at greater risk of rare diseases, several factors increase the potential impact of rare diseases on Aboriginal and Torres Strait Islander people. The lack of research into rare diseases means our knowledge about which rare diseases are most prevalent within Aboriginal and Torres Strait Islander people is incomplete.1
- First Peoples Disability Network – A national organisation of and for Australia’s first peoples with disability, their families and communities
- National Aboriginal Community Controlled Health Organisation (NACCHO) – national leadership body for Aboriginal and Torres Strait Islander health in Australia
- NACCHO Map – search for an Aboriginal Community Controlled Health Organisation (ACCHO) or Affiliate by location
- Your Blood, Your Story – a yarn about DNA, genes and genetic health
- 13Yarn – national crisis support line for mob who are feeling overwhelmed or having difficulty coping
- Head to Health: Support for Aboriginal and Torres Strait Islander people
- headspace: Yarn Safe – Mental health & well-being campaign for Aboriginal & Torres Strait Islanders
- iBobbly app brochure (blackdoginstitute.org.au) – brochure on iBobbly, a social and emotional wellbeing app for Aboriginal and Torres Strait Islander peoples
- Carer Gateway 60 sec animation for First Nations peoples – provides information on Carer Gateway
- Palliative Care Australia – Aboriginal and Torres Strait Islander Peoples Palliative Care Resources
Further information can be found at Aboriginal and Torres Strait Islander People (Resource Collection).
Culturally and linguistically diverse backgrounds
Both language barriers and cultural differences can have negative impacts on the way people from culturally and linguistically diverse (CALD) backgrounds access and experience health care and support services.1
- Australian Government Translating and Interpreting Service (TIS National)
- National Ethnic Disability Alliance (NEDA)
- Embrace Multicultural Mental Health (the Embrace Project) – run by Mental Health Australia and provides a national focus on mental health and suicide prevention for people from CALD backgrounds
Further information can be found at Culturally and Linguistically Diverse Community (Resource Collection).
People living in regional, rural and remote areas
Where people live can have a significant impact on their ability to access services. The lack of rare disease expertise nationally is accentuated by Australia’s vast size. Most rare disease expert centres are located in capital cities thus travel creates a financial barrier for regional, rural and remote Australians living with a rare disease and their families.1
- Services Australia – Assistance for Isolated Children Scheme
- Healthdirect – Rural and remote health
- Ronald McDonald Houses – a home-away-from home for seriously ill children and their families
- Royal Flying Doctor Service of Australia – offers 24-hour aeromedical emergency services for people living in rural and remote areas of ACT, NSW, NT, QLD, SA & WA as well as primary health services and non-emergency transportation
- Angel Flight Australia – coordinates non-emergency flights to assist country people to access specialist medical treatment that would otherwise be unavailable to them because of vast distance and high travel costs
Further information can be found at Regional, Remote and Rural Community (Resource Collection).
Undiagnosed rare disease
Both diagnostic delay and misdiagnosis are common features of rare diseases and can negatively impact the level of care and support received by individuals. Without a diagnosis, people cannot be provided with an accurate prognosis and have no access to evidence-based treatment.1 If you live with an undiagnosed rare disease and would like to learn more about your eligibility for an undiagnosed diseases program in Australia, please talk to your doctor. Participation in these programs may require a referral from a clinical genetics service.
- The Australian Undiagnosed Diseases Network (UDN-Aus) – a national initiative funded by the Medical Research Future Fund’s Genomic Health Futures Mission, aiming to improve the rate of genomic diagnoses to over 70% for those with undiagnosed rare genetic conditions, enabling precise, personalised care to individuals throughout Australia
- KidGen National Kidney Genomic Program – focuses on providing a diagnosis for Australians who have a genetic kidney disease, through cutting-edge research
- FaceMatch – using face-matching technology to help parents searching for a diagnosis for their child
- Syndromes Without A Name (SWAN) Australia – peer support for families caring for a child with an undiagnosed or rare genetic condition
- Undiagnosed Day
Other information that may be of interest:
- Genetic and Rare Disease (GARD) Information Center
- Rare Diseases International
- EURORDIS – Rare Diseases Europe
- Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
Page Last Updated