New South Wales 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 New South Wales (NSW). 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 NSW; some of which are listed below.
- NSW Health Strategic Framework for Integrating Care
- NSW Aboriginal Health: Policies, strategies and documents
- NSW Assistive Technology Policy Directive
- NSW Health Genomics Strategy Implementation Plan (2021-25)
- eHealth Strategy for NSW Health 2016–2026
- NSW Disability Inclusion Action Plan
- NSW Health & Ageing and Disability and Home Care (ADHC) Joint Guideline
- NSW Strategic Framework and Workforce Plan for Mental Health 2018-2022
- NSW Carers Strategy
- NSW Education: Statement of Commitment for People With Disabilities
- NSW Health End of Life and Palliative Care Framework 2019-2024
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 NSW.
- Australian Government: Newborn blood screening conditions screened in Australia by state/territory
- NSW Government (Centre of Genetics Education) – Prenatal testing booklet
- NSW Health Newborn Bloodspot Screening Brochure – information on NBS in NSW and the Australian Capital Territory (ACT) (available in different languages)
- NSW Newborn Screening Program – state-wide service offered to to all babies born in NSW and the ACT
- NSW Biochemical Genetics Service – provides a comprehensive program for the diagnosis and biochemical monitoring of individuals with inborn errors of metabolism (IEM)
- Department of Clinical Genetics – provides consultation and counselling regarding diagnosis and therapy for children and adults with specific genetic conditions
- Sydney Genome Diagnostics – offers a state-wide service for comprehensive testings in clinical cytogenetics and molecular genetics
- Genetic Metabolic Diseases – multidisciplinary service that provides a consultative diagnostic service and clinical care for children and adolescents with IEM from NSW and the ACT
- Northern Sydney Local Health District Clinical Genetics services
- NSW HNE Kids: Hunter Genetics
- General Genetics Service – provides clinical genetics services within Hunter New England and to the northern parts of NSW
- Genetics of Learning Disability (GOLD) Service – clinical genetics and research service for families with inherited forms of intellectual disability
- Human Genetics Society of Australasia (HGSA): Clinical genetic services in NSW
- NSW Centre for Genetics Education: Genetic Services in NSW
- NSW Government (NSW Health) – Guidance for Health Professionals Obtaining Consent for Clinical Genomic Testing (for healthcare professionals)
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.
- NSW Health (Centre for Genetics Education): Genetic and genomic testing considerations
- Human Genetics Society of Australasia (HGSA): Clinical genetic services in NSW
- Human Genetics Society of Australasia (HGSA): Search for a Registered Genetic Counsellor in NSW
- Northern Sydney Local Health District Clinical Genetics services (Genetic Counsellor Clinic)
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 NSW can be found below:
- NSW Health: Local health districts and speciality networks
- Service NSW: Find NSW hospitals and health services
- NSW Health: Aboriginal Community Controlled Health Services
- Children, Young People and Families Directorate of Hunter New England Local Health District – clinical services for children, young people and their families, with professional disciplines within the geographic regions of the Hunter and New England
- Sydney Children’s Hospitals Network – cares for thousands of children each year in a network of hospitals and in their homes
- Queensland Children’s Hospital Connected care and nurse navigator programs –services for families of children with chronic and complex health care needs across Queensland and northern New South Wales
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 NSW Government.
- NSW Virtual Care (telehealth)
- eHealth NSW – using information technology to connect people, data and systems to improve person-centred care in NSW (for healthcare professionals)
- SafeScript NSW – computer software that allows prescribers and pharmacists to access real-time information about an individual’s prescription history for certain high-risk monitored medicines.
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.
- NSW Health
- NSW Health: Aboriginal Health
- NSW Government REACH (Recognise, Engage, Act, Call, Help is on its way) – a system that helps people, carer/s, and families to escalate their concerns with staff about worrying changes in a person’s condition
- NSW Centre for Genetics Education – provides genetic and genomic information and resources
- RuralKidsGPS – a translational research project on delivering care closer to home for rural children with complex health needs: evaluating impact, implementation and cost effectiveness
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 NSW Government services that provide support for people living with disability. There are also links to some external disability support services for those living in NSW.
- NSW Government Disability Services
- National Disability Insurance Scheme (NDIS) in NSW
- Disability Gateway – search for government services or help in NSW
- My Aged Care – search for an aged care provider in NSW
- The Physical Disability Council of NSW– provides assistance to people with a physical disability
- The Disability Trust – provides care and support to people with disabilities and their families in New South Wales, Victoria and the Australian Capital Territory
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 NSW. 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.
- NSW Health: Mental Health Line
- NSW Health Statewide Intellectual Disability Mental Health Hubs
- Intellectual Disability Mental Health Connect – provides information on services and support for people with intellectual disability, their supporters, and professionals
- Disability Gateway – Search for mental health and wellbeing services in NSW
- 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
- Chronic illness peer support (ChIPS) – peer support program that runs across Sydney Children’s Hospitals Network for young people aged 12-25 years who are living with a chronic illness or condition that affects their day-to-day lives
Other Support for Families/Carers
Below is a list of other support available to people living with a rare disease in NSW, including their families and carers.
- EnableNSW Services– assistive technology programs and support services
- 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 NSW – non-government organisation providing information, services and support for carers in NSW
- Variety Australia: The children’s charity for children in need (NSW/ACT) – provides grants, scholarships, programs and events
- SNUG (Special Needs Unlimited Group) project – provides retreats for families caring for a child with a rare disease
- The Sydney Children’s Hospitals Network –Support for siblings of sick kids
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 NSW Government (Education) has specific resources and information on disability, learning and support. Information and services specific to NSW and relevant to different stages of education can also be found through the Disability Gateway.
- Disability Gateway – search for information and services in NSW:
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 NSW. 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 ACT
- ACI : Examples of services – list of of transition clinics and services available in NSW to support young people, their families and carers through transition
- Trapeze – supports young people transitioning from Sydney Children’s Hospitals Network to the adult health care system
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.
- NSW Health: Palliative care
- Palliative Care NSW
- NSW Paediatric Palliative Care Programme
- Bear Cottage – children’s hospice in NSW
- National Palliative Care Service Directory – search for a specialist paediatric palliative care service in NSW
- 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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