Australian Capital Territory Services
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 the relevant resources and services available in the Australian Capital Territory (ACT). Information about services available at the national level as well as in the other states and territories can be found on the individual State and National 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 | Genetic Counselling | Specialist Clinical Care | Digital Health | 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 specific policies and reports that serve as frameworks for healthcare and support services in the ACT; some of which are listed below.
- The Healthy Canberra: ACT Preventive Health Plan 2020–2025
- Aboriginal and Torres Strait Islander Health – implementing actions from the Aboriginal and Torres Strait Islander Agreement 2019-2028
- ACT Government Digital Strategy
- ACT Disability Health Strategy (in development phase)
- ACT Carers Strategy 2018-2028
- ACT Government (Education): ACT Student Disability Criteria
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. Below is a list of diagnostic resources and services available in the ACT.
- Australian Government: Newborn blood screening conditions screened in Australia by state/territory
- NSW Health Newborn Bloodspot Screening Brochure – information on NBS in NSW and the ACT (available in different languages)
- NSW Newborn Screening Program – state-wide service offered to to all babies born in NSW and the ACT
- Human Genetics Society of Australasia (HGSA) – Clinical genetic services in the ACT
- NSW Centre for Genetics Education: Genetic Services in the ACT
- Canberra Clinical Genomics (CCG) – diagnostic genomic service, a partnership between the Australian National University and ACT Health
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.
- Canberra Health: ACT Genetic Service – provides specialist prenatal, childhood and adult genetic counselling for people with a personal or family history of a genetic condition or suspected genetic condition
- Human Genetics Society of Australasia (HGSA) – Search for a Registered Genetic Counsellor in ACT
- Having a Baby in Canberra: Genetic Counselling – resource created by “women’s health matters!”, which is supported by the ACT Government
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.
Further information about the available health services in the ACT can be found below:
- ACT Health’s Find a Health Service – an online directory of all health services and practitioner information in Canberra and surrounding regions.
- Canberra Health Services (ACT Government) – provides a range of services and clinics, both in hospitals and at your home.
- ACT Health: ATSI Health and Wellbeing Service Providers
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’s needed, including in an emergency
There are also additional resources on digital health provided by the ACT Government.
- ACT Health: Digital Health
- ACT Education: Telehealth support service for students
- ACT Digital Health Record (DHR)
- ACT Health: Telehealth Prescriptions FAQs
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 National or the other State and Territory Services pages. The Healthcare Professional and Researcher pages also have specific resources targeted at these two stakeholder groups.
- ACT Health
- ACT Health: Aboriginal and Torres Strait Islander Health
- Call and Respond Early (CARE) for Patient Safety Program – a system that helps people, carers, and families to escalate their concerns with staff about worrying changes in a person’s condition
- ACT Health: Interpreting and Translating Services in ACT
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 and ACT Government services that provide support for people living with disability. There are also links to some external disability support services for those living in the ACT.
- ACT Government Community Services: Disability
- National Disability Insurance Scheme (NDIS) in the ACT
- Disability Gateway – search for government services or help in the ACT
- My Aged Care – search for an aged-care provider in the ACT
- The Disability Trust – provides care and support to people with disabilities and their families in New South Wales, Victoria and the ACT
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 Australians, including those living with a rare disease in the ACT. Additional mental health resources are listed at the National Services page. 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.
- ACT Health: Mental Health
- Canberra Health Services: Mental Health Service for People with Intellectual Disability
- Disability Gateway – Search for mental health and wellbeing services in ACT
- Wellways – a not-for-profit mental health and disability support organisation with services in Queensland, New South Wales, the ACT, Victoria and Tasmania
Other Support for Families/Carers
Below is a list of other support available to people living with a rare disease in the ACT, including their families and carers.
- ACT Health: Community Assistance & Support Program (CASP) – provides support to enhance health and wellbeing and facilitate independence and participation in the community – CASP Service Directory
- ACT Health: Community Assistance and Temporary Supports Program (CATS) – provides short-term support for a health issue, illness or injury
- Royal Flying Doctor Service in NSW/ACT – provides 24-hour, 7 days a week medical emergency help as well as non-emergency patient transport and primary healthcare services
- Carers ACT – provides support and services for carers as a delivery partner of Carer Gateway in the ACT
- Variety Australia: The children’s charity for children in need (NSW/ACT) – provides grants, scholarships, programs and events
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. The ACT Government (Department of Education) has specific resources and information on disability, and learning and support, including a Disability Education Program and a school transition toolkit. Information and services specific to the ACT and relevant to different stages of education can also be found through the Disability Gateway.
- ACT Government (Education): Support for students with disability
- Canberra Health Services: School Health Service – provides access to a health professional in a school setting
- Disability Gateway – search for information and services in ACT:
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 is a list of paediatric to adult transition services available in the ACT. 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 to 16 years of age.
- Agency for Clinical Innovation (ACI) Transition Care Network – facilitates effective transition for young people with chronic health problems and disabilities from paediatric to adult health services in NSW and the ACT
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.
- ACT Health: End of Life and Palliative Care
- Palliative Care ACT
- National Palliative Care Service Directory – search for a specialist paediatric palliative care service in ACT
- 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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