First rare disease strategy launched
Action plan welcomed by advocates
26 February 2020
Yvonne Zurynski, Associate Professor of Health System Sustainability at the Australian Institute of Health Innovation, Macquarie University, welcomes the launch today of the National Strategic Action Plan for Rare Diseases at Parliament House in Canberra by the Commonwealth Department of Health in collaboration with Rare Voices Australia, the national peak body advocating for all Australians living with a rare disease.
Associate Professor Zurynski, a contributor to the Action Plan, says the long-awaited strategy brings Australia in line with many developed countries in supporting more equitable access to healthcare by harnessing the power of rare disease advocates, clinicians, researchers, academics, key peak bodies, industry and government to ensure better care for people with rare diseases.
A rare disease is one that is very uncommon affecting fewer than 5 in 10,000 people. Up to 2 million Australians live with a rare disease.
Associate Professor Zurynski says that for too long people with a rare disease have experienced great difficulty in obtaining a diagnosis and the path to treatment can be unclear, expensive and worrying.
Many rare diseases are difficult to diagnose, and it may take several years for people to receive the correct diagnosis.
Having a diagnosis is the first and most vital step in the care of people with a rare disease, many of whom are children.
"A diagnosis takes away the feeling of uncertainty and isolation, putting people in touch with health and disability services and providing the chance to meet other families for support,” Associate Professor Zurynski said.
Associate Professor Zurynski says the Action Plan will support integrating services that will help make the health system easier for people to navigate in order to get the care that they need. Rare diseases are complex and care from large teams of health professionals is often needed, so care coordination makes life easier for families.
Associate Professor Zurynski congratulated the rare disease community and Rare Voices Australia for their commitment to the development of this Action Plan.
Associate Professor Zurynski is the coordinator of the NHMRC Partnership Centre for Health System Sustainability which is working to improve the integration of services within the health system and wrote for The Conversation on "What is a rare disease?"
Frequently asked questions on rare disease:
What is a rare disease? | It is a very uncommon medical condition. |
How many people have a rare disease? | Fewer than five in 10,000 people might have one of the known rare diseases. |
How many rare diseases are there? | There are 7,000 currently known rare diseases worldwide. |
How do you get a rare disease? | Most rare diseases are genetic in origin and symptoms can appear from birth to adulthood depending on the disease. |
What is an example of a rare disease? | Very rare conditions: Ehlers-Danlos Syndrome, Rett Syndrome, Becker muscular atrophy. Better known examples: Cystic fibrosis, rare childhood cancers and Huntington’s disease. |
Associate Professor Zurynski is available for interview, please contact Chrissy Clay chrissy.clay@mq.edu.au
CENTRES RELATED TO THIS NEWS
Centre for Healthcare Resilience and Implementation Science
FOR FURTHER INFORMATION, PLEASE CONTACT
Chrissy Clay, Research Outreach Coordinator