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 Victoria (VIC). 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 Awareness Rare Education (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 VIC; some of which are listed below.
- Victorian Health Priorities Framework 2012-2022: Metropolitan Health Plan
- Victorian Health Priorities Framework 2012-2022: Rural and Regional Health Plan
- Victorian Public Health and Wellbeing Plan 2019–2023
- Koolin Balit: Aboriginal Health Strategy
- Victoria’s Digital Health Roadmap
- Inclusive Victoria: State Disability Plan (2022–2026)
- Victoria’s 10-year Mental Health Plan
- Victorian Carer Strategy 2018–2022
- Victorian Government (Department of Education and Training): 2018-21 Disability action plan
- Victoria’s End of Life and Palliative Care Framework
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 VIC.
- Australian Government: Newborn blood screening conditions screened in Australia by state/territory
- VIC Department of Health: Newborn bloodspot screening
- VIC Department of Health: Public genetic services in VIC
- Human Genetics Society of Australasia (HGSA) – Clinical genetic services in VIC
- NSW Centre for Genetics Education: Genetic Services in Victoria
- Victorian Clinical Genetics Services (VCGS) – a not-for-profit provider of specialist genetics clinical services throughout VIC, Tasmania and the Northern Territory
- Rare Diseases Now (RDNow) – a program at RCH that delivers genomic diagnoses and personalised care to children at The Royal Children’s Hospital (RCH)
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.
- Better Health Channel: Information about genetic counsellors
- Human Genetics Society of Australasia (HGSA) – Clinical genetic services in VIC
- Human Genetics Society of Australasia (HGSA) – Search for a Registered Genetic Counsellor in VIC
- Genetic Clinics Australia – a private GP-based genetic counselling service run through the Caulfield Family Medical Practice in VIC
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 VIC can be found below:
- VIC Department of Health: Hospitals & health services
- VIC Department of Health: Aboriginal Health Specialised services
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 VIC Government.
- VIC Department of Health: Telehealth
- Victorian Aboriginal Community Controlled Organisation Inc (VACCHO): Digital Health
- Western Victoria Primary Health Network: Electronic Prescriptions
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.
- Better Health Channel: Services and support
- VIC Department of Health: Aboriginal health
- Victorian Aboriginal Community Controlled Health Organisation Inc (VACCHO)
- VIC Department of Health: Victorian Perinatal Data Collection
- VIC Government (Safer Care Victoria): Victorian congenital anomalies register (VCAR)
- Melbourne Genomics Health Alliance
- Genetic Support Network of Victoria (GSNV): Genetic Link – online library of resources for people with genetic conditions, and those who support them
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 VIC Government services that provide support for people living with disability. There are also links to some external disability support services for those living in VIC.
- VIC Department of Health and Human Services: Disability services
- VIC Department of Families, Fairness and Housing: Disability support and community services
- National Disability Insurance Scheme (NDIS) in Victoria
- Disability Gateway – search for government services or help in VIC
- My Aged Care – search for an aged care provider in VIC
- Association for Children with Disability
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 VIC. 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.
- VIC Department of Health: About Victoria’s mental health services
- Disability Gateway – Search for mental health and wellbeing services in VIC
- Mind Australia – registered NDIS provider that supports people who are experiencing mental health and wellbeing concerns
- Wellways – a not-for-profit mental health and disability support organisation with services in Queensland, New South Wales, the Australian Capital Territory, Victoria and Tasmania
Other Support for Families/Carers
Below is a list of other support available to people living with a rare disease in VIC, including their families and carers.
- VIC Department of Families, Fairness and Housing: Aids and equipment
- VIC Department of Health: Victorian Patient Transport Assistance Scheme (VPTAS) – provides financial assistance to rural Victorians for travel of more than 100 kilometres one way for specialist medical treatment
- Royal Flying Doctor Service Victoria – provide non-emergency patient transport services on behalf of Ambulance Victoria as well as primary healthcare services
- Genetic Support Network Victoria (GSNV) – supporting people with genetic, undiagnosed and rare conditions, and their support network.
- Better Health Channel: Carer services and support
- Carers Victoria
- Variety Australia: The children’s charity for children in need (VIC) – 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 VIC Government has specific resources and information on disability, and learning and support, centred around inclusion education for students with disabilities. Information and services specific to VIC and relevant to different stages of education can also be found through the Disability Gateway.
- VIC Government: Inclusive education for students with disabilities
- Better Health Channel: Chronic illness – coping at school
- Kids Health Information: Education support for students with health conditions
- Disability Gateway – search for information and services in VIC:
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 VIC. 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.
- The Royal Children’s Hospital (RCH) Transition Support Service – assists young people with chronic medical conditions and/or disabilities and their parents and carers to transition and transfer to adult care from the age of 15 onwards, in partnership with all RCH clinical teams and adult health services
- The Royal Melbourne Hospital Young Adults Transition Service – provides specialist consultation to adults with congenital disabilities who requires ongoing monitoring and care with regards to their physical wellbeing
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.
- Victoria Department of Health: Palliative Care Program
- Victoria Department of Health: Aboriginal Palliative Care Program
- Palliative Care VIC
- The Victorian Paediatric Palliative Care Program
- Very Special Kids (VSK) – provides specialist palliative care and hospice services for
children and young people across Victoria.
- 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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