About rare diseases
A condition is classified as a rare disease if its prevalence is less than 5 in 10,000 people. 80% of rare diseases are genetic and have a neurological component.
About rare diseases
Rare diseases have a huge impact on the health of the nation, affecting about 400,000 children in Australia. There are 7,000 rare diseases, but each condition may only affect a small number of individuals, often making them hard to diagnose.
About rare diseases
95% of 7000 known rare diseases have no treatment and are not studied by medical researchers.
Towards a Research Enabled Model of Care
Professor Adam Jaffe, Chair, Rare Diseases NSW
Rare diseases are often chronic, complex conditions that require expert multidisciplinary teams of health professionals across the person’s lifetime.
The NSW Rare Diseases Research Enabled Model of Care, currently under development, aims to provide support to all children and adults, and their families with a rare disease in NSW using novel models of clinical care such as care coordination (kidsGPS, Rare Disease Nurse Navigator) and telehealth (Virtual Kids).
Key elements of the Model of Care include timely diagnosis, access to research and emerging precision therapeutics and access to integrated support throughout the care journey. Importantly, the model of care is enabled by research into rare diseases through leveraging the expertise of its partner organisations.
Each of these and more are covered in the profiles of patient advocates and families, researchers and answers to Frequently Asked Questions listed further below.
Increasing rare disease research innovation and capacity
Our outstanding researchers and clinicians, along with parent advocates, are increasing capacity for rare disease research, innovation and equitable access to health system support for children with rare diseases and their families.
Their contributions are increasingly significant for the more than 400,000 Australian children with rare diseases, given approximately 95% of 7000 known rare diseases have no treatment and are not studied by medical researchers.
While it is impossible to list everyone, we have highlighted below a few of the outstanding individuals below.
Rare Disease Parent Advocates and Researchers
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Luminesce Alliance lead investigator Professor Jaffe has co-led a research paper that analyses the challenges in bringing personalised therapies from the laboratory bench to the patient’s bedside.
“Personalised medicine cannot go down the traditional path that other drugs do. Normally, drugs are tested in a large number of patients in clinical trials before being approved to use in a clinic. But if there’s only one person with the rare disease, how do we test it for potential risks and its safety?”
The research paper defines a framework of what this personalised therapy pathway might look like and how it might be implemented into the healthcare system. While there is no definitive answer, it does highlight the important questions and ideas to help get there. Read more
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Grace lives with ADCY5-related movement disorder syndrome, an ultra-rare genetic condition caused by change (mutation) in the ADCY5 gene.
Fewer than one in every million children have this condition. It causes her to have multiple episodes of abnormal movements called ‘dystonic movement storms’ that are triggered when she gets sick, tired, anxious, stressed or frustrated.
The episodes can be life threatening. If the abnormal movements can’t be stopped, Grace could experience respiratory failure or cardiovascular collapse. During a dystonic storm, her body is in a hyper metabolic state that can lead to muscle breakdown.
We were so relieved to finally have some answers and to find out our daughter had a normal life expectancy and intelligence, but because the condition is so rare, the treatment path is unclear,’ says Emma.
This the family – Dad Adam and older brothers William and Ollie – have raised $140,000 to fund a PhD student to join A/Prof Wendy Gold’s team and work on ADCY5 full time.
‘Having the Luminesce Alliance Functional Genomics Research Pipleline to support discovery is really important,’ says A/Prof Gold.
‘It’s got every capability that we need – all the infrastructure that’s required and the expertise with leading researchers who are able to actually deliver.’
Emma says the family wouldn’t change Grace for the world because of the beautiful little girl she is, but it would be wonderful to improve her function and the disabling impact these movement episodes have on her body and functionality.
Read more about Emma and Grace’s journey
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Will Pierce was just four days old when he had his first complex, catastrophic seizure. Then he had another. And another.
Despite his debilitating seizures, Will grew into a teenager who continued to manage the impacts of his conditions. When he was 14, some of his DNA stored in the United States from a research study years earlier was finally sequenced, and he was diagnosed with the rare genetic disease SCN2A-related condition.
Now 22, Will is one of the oldest people in the world diagnosed with SCN2A so his future is unknown. He loves highland cattle, transport and bird watching. It’s been a long road to get him to this point, says his mother Kris.
‘Having a child with a rare, complex condition is very isolating.’
Not many people see the work his extensive support team have to do to enable Will to have the quality of life he now enjoys or the impact on the broader family.”
Kris gave up work for about 15 years to care for Will full-time but has now rekindled her career – to become the Director of Consumer Engagement at Child UnLimited, an Australian network of researchers, clinicians, advocates and families working to improve the clinical care and quality of life of children, adolescents and young adults living with a chronic illness or disability.
In 2024 Child Unlimited and Luminesce Alliance formed a strategic partnership to ensure that consumers are guiding its research around precision medicine.
READ MORE:
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The Luminesce Alliance Kids Advanced Therapeutics (KAT) Enabling Platform program focuses on advancing early-phase and advanced therapeutics clinical trials aimed at revolutionising the lives of children affected by rare genetic diseases, cancer, and neurodevelopmental disorders.
As the national leader in paediatric disease research and clinical trials networks, NSW is uniquely positioned to address these challenges. By uniting talented clinicians and researchers, the Kids Advanced Therapeutics (KAT) program has been established to facilitate the development and delivery of advanced therapeutics to children in NSW and beyond.
This initiative promises numerous benefits, including improved quality of life through cures for genetic conditions, support for the burgeoning field of advanced therapeutics, and the elevation of Sydney Children’s Hospitals Network as a national leader in this domain.
Read more about Dr Michelle Lorentzos and Kids Advanced Therapeutics
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“Collectively rare diseases are more common than diabetes. Families spend years not knowing why their child is sick and even after a diagnosis, they could be the only one in Australia with the condition,” said Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick (SCHN).
This family-centred project, initially funded by Luminesce Alliance, combines the efforts of Clinical Geneticists and Genetic Counsellors across Sydney Children’s Hospitals Network, while collaborating with world-leading experts in genomics.
The project aims to streamline the rare diseases diagnostic journey for families through advanced genetic testing, connection and support.
The project established a number of programs, including:
- Gene2Care to improve the standard of care for children and their families with rare genetic conditions, including timely and enhanced diagnoses and access to management and treatment.
- a rare disease registry GeneSTART. The registry aims to reduce the isolation and uncertainty for those living with a rare disease, providing families with up-to-date information on their child’s condition and access to resources, other families and research. GeneSTART also enables families and clinicians to give feedback on clinical genetics services to help improve their service delivery. It is currently available at the Sydney Children’s Hospitals, Randwick and the St George Hospital.
- an undiagnosed disease program This program supports patients with a suspected rare genetic condition who have not yet received a diagnosis to participate in research to reach a diagnosis as quickly as possible.
- an enabling framework for research to develop new treatments.
The programs are available across the Sydney Children’s Hospitals Network, Westmead Hospital and St George Hospital.
READ MORE:
Paediatric Rare Diseases Predisposition Screening – Luminesce Alliance
Improving the patient journey for rare genetic diseases | Kids Research
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The Paediatric Rare Diseases PreDisposition Screening project above has also highlighted the challenges that many families with a child with a rare disease face to navigate the health, education and disability systems.
“I see children with rare diseases every day and the impacts are immense, from the complexity of conditions to inequity of access to specialised care. Service navigation is key to supporting these,” said Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick.
A key program to understand how best to meet those challenges is The Australian Government Funded Navigator Project, led by Australia’s peak body for people living with a rare disease, Rare Voices Australia (RVA), in partnership with Sydney Children’s Hospitals Network (SCHN) and the Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases at Perth Children’s Hospital
The Navigator Project aims to improve equity of access and service management for those living with a rare disease.
Dr Emma Palmer is part of the Rare Disease Kids program within the Navigator Project. This is a trial of a specialized nurse-led navigation service, including support from nurse specialist Nika Kulaweera and social worker Jessie Ballentine, to families across SCHN living with a rare disease who are particularly struggling to access appropriate services.
READ MORE: Navigating a rare disease diagnosis | Kids Research
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A/Prof Wendy Gold and her team have made an exciting discovery of two promising new biomarkers for the rare genetic disorder Rett syndrome. The approach opens the door for new ways of diagnosing disease using blood samples, for tracking how disease develops over time, and for assessing whether clinical trials have worked.
A/Prof Gold says the work would not be possible without Luminesce Alliance funding, which provides access to expertise and infrastructure across five Luminesce Alliance Enabling Platforms at a fraction of the normal price.
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A/Professor Mark Cowley at the Children’s Cancer Institute Australia (CCIA), with his colleagues at the ‘Kids Cancer Centre’ and all those participating in the ZERO program, recently demonstrated that children with high-risk cancer who, received precision medicine guided therapy, experienced a 2-year progression-free survival rate which was more than double that of children who received standard therapy (26% vs 12%), and five times higher than that of children who received an unguided treatment (a novel agent not chosen on the basis of molecular findings).
READ MORE: ZERO precision medicine study provides some hope to families – Luminesce Alliance
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This Luminesce Alliance funded project researched the psychosocial implications for children and their families of precision medicine and genetic testing, and how to support and educate healthcare professionals in delivering precision medicine.
‘It’s about more than just offering the cutting-edge new treatment,’ says Dr Kate Hetherington, Research Fellow and Clinical Psychologist, Behavioural Sciences Unit, School of Clinical Medicine, UNSW Sydney and Sydney Children’s Hospital, Randwick.
“It’s about understanding the needs of the whole family, communication, and support – all those soft processes that run alongside the hard science but have a huge impact in terms of quality of life and wellbeing, and that can impact the outcome of the therapy.” Professor Claire Wakefield
We identified common impacts of and barriers to precision medicine, developed educational resources for families, and established NSW as a world leader in collaborative psychosocial research in childhood genetics.
A number of video resources were developed including:
- Finding A Way video series of six video resources were designed for parents of children with severe epilepsy. The videos are also intended to support health care professionals caring for these children and parents of young children with very serious brain disorders in mind.
- Precision Medicine videos for families
Rare Disease Frequently Asked Questions and Answers
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A condition is classified as a rare disease if its prevalence is less than 5 in 10,000 people. There are over 7,000 known rare diseases. This figure is increasing steadily, as advances in technology and scientific understanding support discoveries of new conditions (1).
80% of rare diseases are genetic and have a neurological component
Genetic rare diseases include cystic fibrosis or Noonan syndrome. Non-genetic rare diseases include rare autoimmune conditions such as scleroderma, rare oncological conditions such as mesothelioma and rare infections such as Barmah Forest virus.
Rare diseases are present across the medical spectrum. Most paediatric-onset cancers are rare. Other rare diseases range from being widely recognized, such as cystic fibrosis, epilepsies and muscular dystrophy, to other which are less known, such as inherited retinal diseases, Rett syndrome and ADCY5-related movement disorder syndrome, an ultra-rare genetic condition caused by a change in the ADCY5 gene.
There are rare neurological and neuromuscular diseases, metabolic diseases, chromosomal conditions, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems
Rare diseases may be named in a variety of ways, for example:
- SCN2A and CASK-related conditions – after the gene in which the causative DNA change (variation) is found
- Kleefstra and Angelman Syndromes – after the health professional(s) or researcher(s) who first described the condition
- Systemic Lupus Erythematosus or Epidermolysis Bullosa syndromes – after the main signs or symptoms
- Zika virus or Asbestosis conditions – after the causative infection or environmental agent
For more information visit Rare Voices Australia
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Precision medicine is an emerging approach for rare disease treatment that takes into account individual variabilities in genes, environment and lifestyle for each person. Precision medicine is associated with rare diseases because it tailors treatment to an individual’s genetics.
Precision medicine is often known also as “personalised medicine”. Refer also to Luminesce Alliance Precision Medicine Glossary: clinical genomics, genomic medicine, precision medicine, stratified medicine. Read more.
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It is estimated that about 2 million people in Australia have a rare disease. So, while these conditions are individually rare, they are collectively common.
Almost all health professionals will care for people with diagnosed and undiagnosed rare diseases. For example, a GP working full time would be seeing about 60 to 70 people with a rare disease in their practice (refer to resources: 1,2).
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Rare diseases also generally require a high level of care. Most are complex, chronic and lifelong (frequently beginning in childhood). Yet, their rarity means that often little is known about their cause, symptoms, diagnosis, progression or treatment. Access to clinical research is often limited.
People living with a rare disease and their families face distinct challenges compared with those with more common chronic conditions, as shown in the below Figure 1 graphic. They have poorer health care outcomes compared to other complex, chronic conditions and have repeatedly expressed dissatisfaction with their current models of care (1-5).
Figure 1: Shared challenges for people living with a rare disease: Rare Disease Information on the Lyfe Languages portal lyfelanguages.com
The Australian Government’s National Strategic Action Plan for Rare Diseases and the United Nations Resolution addressing The Challenges of Persons Living With a Rare Disease and Their Families highlight the need for innovative, person-centred integrated health care for people with rare and undiagnosed conditions. This care should deliver as rapid a diagnosis as possible and facilitate access to Centres of Expertise- such as the NSW Rare Diseases Research Enabled Model of Care, research, clinical trials and patient support and advocacy groups such as Rare Voices Australia and Genetic Alliance Australia.
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Access to appropriate, accurate, and up-to-date information is important for health professionals, patients and families.
Although no one can know the details of over 7,000 different rare conditions, there are disease-agnostic approaches that enable all health professionals to help people living with rare disease to achieve the best possible quality of life. Such approaches are highlighted in the National Recommendations for Rare Disease Health Care and the Rare Disease 101 Australia elearning module.
Despite the best available information, there is often a high degree of uncertainty associated with rare disease. This means it is also important that health professionals develop skills in managing uncertainty alongside their patients, and empowering patients to be active participants in their care.
Genomic technologies and emerging therapeutics play an increasingly important role in rare disease. Engaging with rare disease education can also keep health professionals up to date with developments in these cutting edge fields.
For more information visit
- Clinician Education – Rare Diseases NSW
- Rare Voices RARE Portal Resources for Rare Diseases
- Rare Disease Project ECHO https://rarevoices.org.au/rare-disease-project-echo/
- World Health Organisation – FAQs Rare diseases
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Websites
- Rare Voices Australia – RARE Portal – Resources for Rare Diseases
- Rare Voices Australia – National Recommendations for Rare Disease Health Care
- Rare Voices Australia – ECHO Rare Disease Project – a collaboration between Rare Voices Australia, UNSW Sydney, Rare Diseases NSW, and the Rare Care Centre, bringing together clinical, research and lived experience expertise.
- Rare Diseases NSW – Clinician Education
- World Health Organisation – International Classification of Diseases (ICD)
- Luminesce Alliance – current and completed research projects
Videos
- https://geneequal.com/genetic-resources/our-health-videos/
- Finding A Way video series – PENNSW – these six brief positive psychology talks are designed for parents of children with severe epilepsy that persists over a long time. In one sense they may be of help for any parent who has a seriously ill child. However, they are specially prepared with parents of young children with very serious brain disorders in mind.
- A series of three videos about precision medicine, developed by an expert multidisciplinary team comprising psycho-oncology researchers, oncology clinicians, a genetic counsellor, and a parent of a child with cancer:
- Precision Medicine videos for families
Publications
- Australian Government Department of Health. National Strategic Action Plan for Rare Disease. Commonwealth of Australia: Canberra; 2020. Available online at: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf(accessed June 2023).
- Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006; 185: 82-83.
- Bhattacharya K, Millis N, Jaffe A, Zurynski Y. Rare diseases research and policy in Australia: on the journey to equitable care. J Paediatr Child Health 2021; 57: 778-781.
- Zurynski Y, Deverell M, Dalkeith T, et al. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis 2017; 12: 68.
- Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 2013; 8: 22.
- United Nations. 76/132. Addressing the challenges of persons living with a rare disease and their families. UN: Geneva: 2021. Available online at: https://www.rarediseasesinternational.org/wp-content/uploads/2022/01/Final-UN-Text-UN-Resolution-on-Persons-Living-with-a-Rare-Disease-and-their-Families.pdf(accessed June 2023).
