Rare Disease Community

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.

The Taking Action Together Toolkit: Improving Health and Wellbeing Outcomes for Australians Living with a Rare Disease has been developed to show how the Australian rare disease sector has worked effectively together to advocate (speak up) for systemic change for people living with a rare disease. The Toolkit includes case studies describing how Australian organisations brought about systemic change, as well as four key approaches used by these organisations that may help with effective systemic advocacy, including tools that may be useful to practically apply these approaches.

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

Emergency Management

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.

Policy

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 

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.

Research

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. 

    Priority Populations

    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 

    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 

    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 

    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.

    Other Information

    Other information that may be of interest: 

    References
    1. 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

    31/08/2023 02:33