National Services

National Services

IMPORTANT INFORMATION

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.

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.

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.

Diagnostics

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.

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.

Genetic Counselling

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.

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

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

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.

Education

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.

Disability Support

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

Mental Health

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

Peer support

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.

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.

Transition Services

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.

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.

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 
  2. 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 
Page Last Updated

14/07/2022 15:48