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.
This page contains information about relevant resources and services available at the national level. Further information specific to each Australian state or territory can be found on the individual State and Territory Services pages.
If you are aware of any additional information that may benefit stakeholders with an interest in this page or another page on the RARE Portal, or if you notice any broken links or misleading information, please let us know via the Contribute page.
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Policy | Diagnostics | Undiagnosed Rare Diseases | Genetic Counselling | Specialist Clinical Care | Digital Health | Health Technology Assessment | Education | Disability Support | Mental Health | Other Support for Families/Carers | School Education Support | Transition Services | Palliative Care Services | References
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.
There are also other national policies and reports that serve as frameworks for healthcare and support services provided to all Australians; some of which are listed below.
- The New Frontier – Delivering better health for all Australians (House of Representatives Standing Committee on Health, Aged Care and Sport)
- RVA’s involvement in policy development, reports and submissions
- National Strategic Framework for Chronic Conditions
- National Preventive Health Strategy 2021–2030
- National Aboriginal and Torres Strait Islander Health Plan 2013-2023
- Australia’s Disability Strategy 2021-2031
- National Digital Health Strategy and Framework for Action
- National Mental Health and Suicide Prevention Plan
- National Health Genomics Policy Framework
- National Approach to Genomic Information Management (NAGIM) Blueprint
- National Clinical Trials Governance Framework
- Carer Support Planning Framework
- The National Palliative Care Strategy 2018
Early diagnosis enables the best clinical care, treatment options, access to services, peer support, increased reproductive confidence and access to participation in clinical trials. Yet diagnostic delay and misdiagnosis are common in rare diseases. Thirty per cent of Australian adults living with a rare disease are impacted by a diagnostic delay of more than five years, while almost half have received at least one misdiagnosis. Both diagnostic delay and misdiagnosis can negatively impact the level of care and support received by individuals. This has physical, psychological, emotional and financial costs for the person and family living with a rare disease.1
Screening and diagnostic programs play an essential role in the diagnosis of rare diseases. Prenatal and newborn screening programs (NBS) are vital in enabling early detection of diseases and, in some cases, early intervention that may lead to better prognosis and outcomes. National screening programs and reproductive carrier genetic screening can facilitate the early and accurate diagnosis of rare disease.
- Australian Government: Newborn Bloodspot Screening
- Pregnancy Birth and Baby: Neonatal screening test information – resource provided on behalf of the Australian Government Department of Health
- Additional national screening programs
- Centre for Genetics Education: Reproductive carrier genetic screening factsheet
Undiagnosed Rare Diseases
There are more than 7,000 different rare conditions, with new diseases constantly being identified thanks to advancements in technology. Most individuals start their rare disease journey without a diagnosis and face several obstacles along the way to obtaining an accurate diagnosis. There are also many rare diseases with an unknown cause, making diagnosis impossible. Australians living with an undiagnosed rare disease miss out on an accurate prognosis and access to evidence-based treatments.1 Therefore, people living with an undiagnosed rare disease must have priority access to specialised and expert diagnostic services, genetic counselling and peer support.
- The Australian Undiagnosed Diseases Network (UDN-Aus)
- Cliniface – a free clinical platform for 3D facial analysis (for clinicians and researchers)
- FaceMatch – state-of the-art computer face-matching technology to match the faces of children with syndromic intellectual disability who are undiagnosed (for clinicians, researchers and people living with an undiagnosed rare disease)
- Syndromes Without a Name (SWAN) Australia – peer support for families caring for a child with an undiagnosed or rare genetic condition
Approximately 80 per cent of rare diseases are of genetic origin.1 Genetic rare diseases result from a disease-causing mutation or change in an individual’s DNA, which may be detected through genetic testing. Certain genetic rare diseases are inheritable—the mutation can be passed on from parents to their children. Some individuals may not have a rare disease but may be carriers of a genetic mutation that can cause a rare disease in their children. In such cases, it is important to seek genetic counselling to understand the inheritance patterns and risks of genetic rare diseases in families. Genetic counsellors are qualified allied health professionals who provide information and support regarding genetic conditions and testing. Genetic counsellors help individuals and families understand their diagnosis and associated risks and develop a plan for their future. Genetic counselling is an essential part of genetic testing and carrier genetic screening. Individuals diagnosed with a particular genetic rare disease, or those who suspect a history of genetic rare disease in their family, may seek genetic counselling from a certified and registered genetic counsellor through a referral from their medical practitioner.
- Human Genetics Society of Australasia (HGSA): Register of Genetic Counsellors
- Australasian Association of Clinical Geneticists: Resources for people and families who have been offered genomic testing
- Raisingchildren.net.au: Genetic Counselling Guide for Parents
Specialist Clinical Care
Rare diseases are often complex, serious, chronic and progressive conditions. Treatment of a rare disease often involves multidisciplinary teams, including a variety of clinical, nursing and allied health specialists. The National Health Services Directory is a national directory of health services, including a list of hospitals, specialty clinics and healthcare professionals that can be searched by state or territory. Additional information about rare disease specialty clinics may be available on specific rare disease pages on this RARE Portal.
Digital health services, including virtual clinics, telehealth (telemedicine) services and electronic prescriptions, are key components of modern health care and social support. These services are arguably more pertinent in a rare disease context, where conditions are often complex and chronic, and expertise is scarce and geographically dispersed. My Health Record is an existing tool that can be used to improve the coordination of care and planning for people with chronic and complex conditions, like those living with a rare disease.2
- My Health Record – a safe and secure place to store key health information that is available to individuals and healthcare providers whenever it is needed, including in an emergency
- Telehealth – enables consultation of healthcare providers remotely by phone or video call
- Australian Government Initiative: Electronic prescription
Health Technology Assessment
Health Technology Assessment (HTA) encapsulates a range of processes and mechanisms that use scientific evidence to assess the quality, safety, efficacy, effectiveness and cost effectiveness of health services.1 This includes the assessment of medicines, treatments and technologies before they can be approved for use or are subsidised by the government. The process examines if a particular health technology should be used in Australia, how it should be used and for whom, the health benefits, risks, costs and potential impacts for the individuals as well as the wider Australian community. It is important for people living with a rare disease, who often require and utilise these health services, to have awareness and understanding of the different HTA pathways to ensure they have equitable access to the best available health services.
- Australian Government – Health Technology Assessments
- HTA Consumer Evidence and Engagement Unit (HTA CCC secretariat) – helps consumers be part of the HTA processes
- RVA Education: Rare Disease Sector Webinar on the Health Technology Assessment Policy and Methods Review
- Medicare Benefits Schedule (MBS) Online – a listing of the Medicare services subsidised by the Australian Government
- Pharmaceutical Benefits Scheme (PBS) – lists all of the medicines available to be dispensed to people at a Government-subsidised price
- Life Saving Drugs Program (LSDP) – pays for specific essential medicines to treat people with rare and life-threatening diseases
- Therapeutic Goods Administration (TGA) – Australia’s regulatory authority for therapeutic goods
- Medical Services Advisory Committee (MSAC) – an independent non-statutory committee that advises the Australian Minister for Health on evidence relating to the safety, effectiveness and cost-effectiveness of new medical technologies and procedures
- Pharmaceutical Benefits Advisory Committee (PBAC) – an independent expert body whose primary role is to recommend new medicines for listing on the PBS
- Prostheses List Advisory Committee (PLAC) – provides recommendations about the listing of products on the Prostheses List
- National Blood Authority – statutory authority; saving and improving Australian lives through a world-class blood supply
- Newborn Bloodspot Screening – National Policy Framework
Education about healthcare and rare diseases is vital in enabling and empowering individuals to become active participants in their rare disease journey. Having access to educational resources can equip individuals with the tools and knowledge to advocate for their health. Raising awareness of preventative measures is also essential.
Additional education resources can be found by searching the State and Territory Services pages. The Healthcare Professionals and Researcher pages also have specific resources targeted at these two stakeholder groups.
- Healthdirect Australia – free Australian health information and advice
- Pregnant pause – Australian Government initiative supporting mums-to-be to go alcohol-free
- Vaccine preventable diseases – the Australian immunisation handbook lists the available vaccinations for vaccine preventable diseases (including preventable rare diseases)
- Australian Government Department of Health and Aged Care: Aboriginal and Torres Strait Islander health
- Australian Commission on Safety and Quality in Health Care: Supportive resources on health literacy – resources for consumers, clinicians and health service organisations to support improvements in health literacy
- Consumers Health Forum of Australia (CHF) – for Australian healthcare consumers
- Patient Voice Initiative (PVI) – guide to having a voice in Australia’s healthcare system
- Rare Disease Registry Alliance
- Learn from people living with a rare disease – personal stories shared with Rare Voices Australia
- Raisingchildren.net.au: Article on raising children with rare diseases and conditions
- NSW Centre for Genetics Education – a division of NSW Health Education & Training (HETI) which provides genetic and genomic information and resources
- Genomics information – Australian Genomics: Genomics info, Melbourne Genomics Health Alliance and its Genomics glossary
- Indigenous Genomics Health Literacy Project (IG-HeLP)– health literacy resources for Aboriginal and Torres Strait Islander consumers and health workers on the topics of DNA, genes, genetic health, genetic testing and precision medicine
People living with a rare disease, including families and carers, often have complex support needs that extend beyond health to disability, social/welfare, mental health, education, employment and housing.1 Integrated rare disease care and support systems are required to identify and meet these complex needs.
A rare disease diagnosis typically leads to impossible choices based on incomplete knowledge and unclear pathways. It can be difficult for people living with a rare disease to navigate the health, disability and other systems.1 Below is a list of Australian Government services that provide support for people living with disability.
- National Disability Insurance Scheme (NDIS) – provides funding for various types of support for Australians with a disability based on their individual needs
- My Aged Care – Australian Government-funded aged care services for those aged 65 years or over (50 or over for Aboriginal and Torres Strait Islander people); eligibility may include diagnosis of some medical conditions and reduced mobility
- National Disability Gateway – has information and services to help people with disability, their family, friends and carers, to find the support they need in Australia
Living with a rare disease can pose significant psychological challenges for individuals, their families and carers.2 Feelings of isolation, uncertainty, and despair about a rare disease diagnosis and prognosis are common. It is important to recognise the mental health challenges of living with a rare disease, and to integrate mental health, and social and emotional wellbeing into rare disease care and support for the whole family.1
Below are mental health resources that provide support to all Australians, including those living with a rare disease. There are peer support services specifically for those living with a rare and chronic disease, which allow individuals to connect with others and reduce the isolation that comes with rare diseases. Specific support is also available for families and carers.
These resources provide general information only and do not provide advice or recommendations on mental health and wellbeing. We encourage people living with a rare disease to consult with health professionals when accessing mental health and wellbeing resources.
- Mental health care and Medicare – information about mental health care covered by Medicare
- Head to Health – mental health resources from trusted service providers
- Headspace – National Youth Mental Health Foundation
- Be You – national mental health initiative for educators to promote positive mental health in children and young people in schools and early learning services
- 13Yarn – national Aboriginal and Torres Strait Islander people crisis support line (13 92 76) for mob who are feeling overwhelmed or having difficulty coping
- Lifeline Australia – provides phone (13 11 14) and online access to 24-hour crisis support and suicide prevention services for all Australians
- Beyond Blue – provides anxiety, depression and suicide prevention support for all Australians by a team of mental health professionals through free, immediate, short-term counselling, advice and referrals via phone (1300 22 4646) 24/7, online and webchat
- Kids Helpline – free, confidential 24/7 online and phone (1800 55 1800) counselling service for those aged 5-25
- Black Dog Institute – medical research institute that provides resources, support, education and services on mental health
- Intellectual Disability Mental Health Connect – provides information on services and support for people with intellectual disability, their supporters, and professionals; a NSW initiative but available to all Australians
- RARE Portal A to Z Support Directory
- Raisingchildren.net.au: Peer support group for teenagers with chronic conditions
- Livewire (powered by Starlight) – free online community support for teens aged 12-20 with chronic health conditions (and their siblings)
Support for families and carers
- MyTime – free support for parents of children with disabilities
- Siblings Australia – promoting better support for siblings of children and adults with disability
Other Support for Families/Carers
People living with a rare disease and their families 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 Individuals may not always be aware of the financial support they are entitled to or may find it difficult to navigate the support systems in place. Services Australia is an Australian Government agency responsible for the delivery of advice and high quality, accessible social, health and child support services and payments. Further financial support for Australians living with a chronic illness is available in the form of grants, scholarships and other opportunities are offered through various registered charitable organisations. These organisations also provide support for families and carers through programs, events and camps for children living with chronic illnesses.
- Services Australia
- Carer Gateway – Australian Government program providing free services and support for carers
- Carers Australia – providing a voice for carers across Australia
- Young Carers Network – an initiative of Carers Australia for young carers up to the age of 25 years
- Little Dreamers Australia – supporting young people aged 4 to 25 who provide care for a family member
- Variety Australia: The children’s charity for children in need – provides grants, scholarships, programs and events
- Ronald McDonald Family Retreats – providing a retreat for families caring for a seriously ill child
- The Steve Waugh Foundation – includes grants and respite camps for children and young adults (0-25 years)
- Starlight Children’s Foundation – programs aimed at creating fun, joy and laughter for sick kids
- 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
- Kindred – supports families with children from birth to 8 years old with a developmental delay or disability and medical needs
- Siblings Australia – provides disability support services & disability resources for siblings of children and adults with disability
- Agency for Clinical Innovation (ACI): Say Less Show More – series of photo stories (visuals) that illustrate what will happen during routine medical procedures to support children including those with disabilities and their parents and carers
School Education Support
Support at school is vital for children living with rare diseases and their families and carers. Children with rare diseases are often absent from school due to being unwell or undergoing treatment. They may also require specific supports to accommodate physical, behavioral, mental and developmental aspects of their condition. Such supports can be provided by improving accessibility with ramps, ensuring specialised equipment is available and the provision of extra support staff.
Families, carers and school staff must work together to ensure children living with a rare disease have access to reasonable adjustments to meet their specific needs. These adjustments must ensure equitable access to the curriculum and school community. A student health support plan can be useful in outlining the needs and requirements of the child and approaches to support them. Schools are entitled to funding from the Australian Government to enable them to support students with disabilities. Some states and territories may also offer home-based education programs for children who are unable to attend school. In addition to mainstream education, there are also specialised schools, which may be more suitable for some children and families.
Further information regarding the disability and education agencies and departments specific to each Australian state or territory can be found by searching the State and Territory Services pages.
- Raisingchildren.net.au: School support for children with disability
- Chronic Illness Alliance:
- Student Health Support Plans: Recommended Approach for Parents and Carers (for parents)
- Student Health Support Plan (for schools)
- Ronald McDonald:
- Ronald McDonald Learning Program – a tailored program to help seriously ill children catch-up on missed education
- Ronald McDonald EDMed Professional Development for Teachers (free) – designed to create an awareness of the educational needs of students with chronic illness
- MissingSchool: Telepresence Robot Service
Transition across health services refers to the shift of one’s care from one health service to another. Transition may be necessary to accommodate changes in age, level of need, providers, geography or other factors. The transition from paediatric to adult health services is commonly cited as a challenge for people living with a rare disease.1 Paediatric to adult transition services provide young people living with a rare disease, and their families and carers, with guidance and support to move across health services and prevent feelings of fear, uncertainty and abandonment that may arise during this process.
Below are links to general information about paediatric to adult transitions. For information on available transition processes at your local hospital or healthcare service, please visit the relevant State and Territory Services pages. Please note, not all health services have a formal program for transitions, so it is important to start having these conversations with your child’s medical team as your child approaches 14-16 years of age.
- Raisingchildren.net.au: Transition plans for adulthood (teenagers with disability, autism or other additional needs)
- Raisingchildren.net.au: Teenagers with chronic health conditions moving to adult care
- Child Unlimited – helping children with chronic illness and disability live their best lives
Palliative Care Services
Palliative care encompasses treatment, care and support for people living with a life-limiting or terminal illness. It plays a vital role for individuals and families living with a life-limiting rare disease, including improving quality of life while also providing end-of-life-care.
Palliative care may be required at any age; however, the needs of children and their families often differ from older individuals. Cultural factors of diverse groups, including Aboriginal and Torres Strait Islander people, must also be considered by palliative care services. Palliative care must be person-centred and adaptable to changes in need over time.
- Australian Government Department of Health and Aged Care: About Palliative Care
- HealthDirect Palliative Care resource
- CareSearch – palliative care knowledge network, funded by the Australian Government (Department of Health)
- Palliative Care Australia
- National Palliative Care Services Directory
- Aboriginal and Torres Strait Islander Peoples Palliative Care Resources
- Paediatric Palliative Care
- 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
- Rare Voices Australia. The evidence base for the National Strategic Action Plan for Rare Diseases – A companion document to the National Strategic Action Plan for Rare Disease. [Internet]. 2020. Available from: https://rarevoices.org.au/wp-content/uploads/2020/09/RVAEvidenceBaseDoH.pdf
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