Healthcare Professionals

Healthcare Professionals

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.

Hospital admissions and visits to emergency departments are common for people living with a rare disease who may present with life-threatening symptoms. There is an urgent need for emergency management guidelines for individual rare diseases. In the absence of these guidelines, it is vital for emergency departments to stay alert and respond swiftly to people presenting with a rare disease, or an undiagnosed rare disease.

Rare diseases are often complex, serious, chronic and progressive conditions with few treatment options, posing a variety of challenges to Australian healthcare and disability systems. With rare diseases affecting an estimated 2 million Australians1 and the number of known rare diseases increasing thanks to advances in technology, most healthcare professionals will meet at least one rare disease patient at some point in their careers.

People living with a rare disease often become experts in their own rare disease; they may know more about their condition than some healthcare professionals. This can leave patients and families concerned that healthcare professionals have insufficient understanding of their condition to provide adequate care. Therefore, it is important for healthcare professionals to recognise and embrace the knowledge and expertise of rare disease patients, families and carers, and to provide gentle, respectful direction where patients have been misinformed.

Australia’s first-ever National Recommendations for Rare Disease Health Care (the Recommendations) has been co-designed by an extensive multi-stakeholder consultation process and developed in collaboration with health professionals, academics, and people living with a rare disease. The Recommendations have been endorsed by Rare Voices Australia (RVA) and 9 national colleges and bodies. They have also been officially recognised as an Accepted Clinical Resource by The Royal Australian College of General Practitioners.

It is impossible for healthcare professionals to know everything about over 7,000 known rare diseases, but it is vital they stay updated with available rare disease information and resources to support patients and their families from diagnosis through to treatment, care and support.

The information on this page is intended as a guide only. 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.

 

Quick Page Search:
Policy | Supporting People Living With a Rare Disease | Supporting People Living With an Undiagnosed Rare Disease | Diagnosis | Treatments | Guides and Resources | Education | Research | Other Information | References

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 a range of relevant policies and reports driving change in rare disease care in Australia, which may directly affect the way healthcare professionals work, both now and into the future. Some of these are listed below.

Supporting People Living With a Rare Disease

Australians living with a rare disease often face delays in diagnosis, and inequitable access to appropriate treatments and early interventions. Most rare diseases have no cure, so improving quality of life and extending life expectancy are core to care delivery.1

Compounding the inherent complexities of a rare disease diagnosis are healthcare and disability systems that are not fully equipped to respond to rare diseases effectively and holistically. Stakeholders across the rare disease sector are advocating for systemic change, including progress towards a national rare disease workforce strategy. However, until these systems and policies are embedded across Australian health and disability systems, people living with a rare disease rely on the dedication of their healthcare professionals, and the support of systems built to respond to more common conditions.

Rare disease impinges on all facets of life, and the effects are felt by patients, parents, grandparents, siblings and carers. Feelings of stigma, including isolation and discrimination, as well as anxiety and grief can consume parents and carers as they navigate an uncertain future for a child living with a rare disease. There are ongoing psychosocial and financial pressures that must also be acknowledged and holistically managed.2 The RARE Portal’s National, State and Territory-based services pages are a starting point for healthcare professionals and people living with a rare disease to locate appropriate support and information.

If you suspect your patient has a rare disease and would like to link them with an existing Australian support organisation, please visit the Support Directory. Please note some conditions may be supported by umbrella groups. For more information about a specific rare disease, please visit and direct patients and carers to the A-Z list of rare disease information on the RARE Portal. If you do not find the rare disease you are looking for, please visit Genetic and Rare Diseases (GARD) Information Centre for more information, keeping in mind that information on GARD is based on the American healthcare system.

If you diagnose a child with a rare disease, you can report this to the Australian Paediatric Surveillance Unit at Kids Research and the International Network of Paediatric Surveillance Units.

Other resources include:

  • Supporting the Mental Health and Wellbeing of People Living with a Rare Disease
  • Lyfe Languages – a health initiative that enables translation of complex medical terminology into Indigenous languages
  • Clinical Yarning – provides information and links to resources dedicated to improving communication between healthcare clinicians and Aboriginal and Torres Strait Islander People using a clinical yarning approach
  • Wellmob – resources for frontline health and wellbeing workers, focussing on the social, emotional and cultural wellbeing for Aboriginal and Torres Strait Islander People
Supporting People Living With an Undiagnosed Rare Disease

Supporting Australians living with an undiagnosed rare disease can be challenging but is vital. It requires the combined expertise of a range of healthcare professionals, including clinicians, nurses allied health and mental health. Living with an undiagnosed disease is laden with uncertainty, and patients and caregivers can feel peripheral to the decision-making process. Without a diagnosis it is difficult to provide an accurate prognosis, access to evidence-based treatments or access to funding for health and disability services. Therefore, it is important for healthcare professionals to work together and in partnership with patients, families and carers to support and manage the care of people living with an undiagnosed rare disease.

Thanks to advancing technologies, new rare diseases are being discovered all the time. Ongoing management of a person with a suspected undiagnosed rare disease can aid diagnosis and reassure patients and caregivers with hope for a future diagnosis. Healthcare professionals can also provide information and support about opportunities to participate in research to foster hope for a future diagnosis and better outcomes for people living with undiagnosed rare diseases. The Australian Undiagnosed Diseases Network (UDN-Aus) aims to provide a definitive diagnosis for people with complex and long-standing or ‘orphaned’ medical conditions.

Genetic Alliance Australia (GAA), Genetic Support Network of Victoria (GSNV) and Syndromes Without a Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific support group.

Diagnosis

An overlapping spectrum of complex and unusual symptoms can make diagnosing rare diseases difficult. Receiving timely and accurate diagnosis enables the best clinical care, treatment options, access to services, increased reproductive confidence and access to participation in clinical trials. Yet diagnostic delay and misdiagnosis are common in rare diseases. Currently, Australians adults and children can wait several years for an accurate diagnosis causing physical, psychological, emotional and financial loss. 3 Therefore, it is important that healthcare professionals are open to searching for answers when faced with a range of unexplainable symptoms or episodes. 

The use of a simple mnemonic—Family GENES—may be useful for prompting clinicians to consider a rare genetic disease diagnosis.4,5 Family GENES provides a list of red flags for rare disease outlined in the figure below.

Download the Family GENES PDF.

In Australia there are national health screening programs, including preconception carrier screening, which are vital to the early detection of rare diseases. These programs aim to reduce the burden of illness and improve health outcomes for individuals and their families.

Access to freely available online health information means many people living with a rare disease are aware of diagnostic tests and treatments available internationally. However, not all available diagnostic tests or treatments for rare diseases are approved or subsidised in Australia. That means Australian healthcare professionals may be faced with difficult questions from knowledgeable patients and caregivers around access to testing, so it is important to be prepared to respond. Below are some links to Australian screening programs, diagnostic tools and information, as well as a link to the Medicare Benefits Scheme, which has a list of subsidised diagnostic tests.

Treatments

Most rare diseases have no cure, so health systems focus on improving quality of life and extending the life expectancy of people living with a rare disease. With limited treatment options, it is essential for people living with a rare disease to benefit from new and transformative health technologies such as genomics, gene and cell therapies and precision medicine. Timely access to these transformative technologies is critical as many rare diseases progress quickly. There are several programs and initiatives supporting the treatment and management of rare diseases in Australia listed at the Australian Government Department of Health – What we’re doing about rare diseases. The Australian Government Department of Health subsidises treatments for a number of rare diseases through a range of programs and mechanisms.

Guides And Resources

This section provides a list of useful links to health and disability information for various healthcare professionals.

For all Healthcare Professionals

Government Services/Resources:

Genetic Resources:

Healthcare Frameworks:

Palliative Care Resources:

For Allied Health Professionals

For Clinicians

For Mental Health Professionals

For Diagnostic Specialists

Education

Rapid advances in technology and rare disease knowledge demand a continuous commitment to education for all rare disease stakeholders. This is even more pertinent for healthcare professionals looking after people living with a rare disease, who require a nuanced approach to care that is person-centred with a focus on actively listening to patient and caregiver narratives.

Research into the learning needs of Australian healthcare professionals around rare disease is ongoing. Rare disease specific education and resources for healthcare professionals are under development and will be added to the RARE Portal, in time. Below is a useful list of genomics and rare disease education and resources currently available.

Research

Supporting people living with a rare disease extends beyond healthcare into empowering them to participate in research for new treatments and increased knowledge. For many people living with a rare disease, participation in a clinical trial may be the only way to access treatment. 1 Healthcare professionals are the gatekeepers to research and clinical trials for people living with a rare disease. Healthcare professionals’ involvement in, and awareness of, research and clinical trials opportunities are fundamental to best practice care for people living with a rare disease. It is also vital for healthcare professionals to help manage expectations of patients and caregivers wanting to participate in a clinical trial.

For key decision-makers at all levels, greater knowledge of rare diseases can facilitate more responsive and appropriate services for people living with a rare disease and their families and carers. Below are links to various research opportunities and initiatives. For more information about rare disease research, please visit the Researchers page on this RARE Portal.

Other Information

Other links to information that may be of interest:

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. Anderson M, Elliot EJ, Zurynski YA. Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. [Internet]. 2013;8:22. Available from: https://doi.org/10.1186/1750-1172-8-22 
  3. Bhattacharya K, Millis N, Jaffe A, Zurynski YA. Rare disease research and policy in Australia: One the journey to equitable care. [Internet]. 2021;57(6):778–81. Available from: https://doi.org/10.1111/jpc.15507 
  4. Whelan AJ, Ball S, Best L, Best RG, Echiverri SC, Ganschow P et al. Genetic red flags: clues to thinking genetically in primary care practice. Prim. Care Clin. Office Pract. 2004; 31:497-508.
  5. Baynam, G. A diagnostic odyssey – red flags in the red sand. Medicus. 2015;55(9):40-43.
Page Last Updated

20/03/2024 04:41