Rare Disease Day – Feb 28th 2021
Rare Disease Day is being celebrated on February 28th this year, with events being held by patient organisations including Genetic Support Network Victoria and Rare Voices Australia.
A rare disease is most commonly defined as a disease that affects fewer than 5 in 10,000 people. These diseases can be debilitating and difficult to diagnose. Although each individual type of rare disease is itself rare, collectively they impact 8 per cent of Australians or 2 million people. Rare diseases have also been recognised as an important public health issue by the Australian government.
Rare Disease Day aims to raise awareness of these diseases among doctors, industry professionals, politicians, researchers, scientists and more.
Rare diseases are different but have common characteristics
Rare diseases are diverse but share some common traits. They are usually lifelong and lead to an ongoing decline in health. They can also be potentially life-threatening.
Rare diseases usually have a broad range of symptoms. This is even true for those individuals with the same rare disease. The symptoms are also not specific to a single rare disease, and may be present in more common diseases. This often leads to patients being misdiagnosed.
All these factors can cause distress for the patient and their family, leading to many visits to the GP and hospital often with no answers. This is where genomic testing can help.
What can genomic testing do?
About 80 per cent of rare diseases are genetic with at least 70 per cent of these causing disease in childhood. Genomic tests can identify the specific genetic cause of a rare disease.
Although many of these rare diseases cannot be cured, finding the genetic cause can inform the type of healthcare a patient will need and the types of symptoms that may occur in in the future. This can ultimately lead to better health outcomes for the patient.
Events and promotional activity for Rare Disease Day in Australia can be found below:
- Kids Art Competition held by the Genetic and Rare Disease Network (GaRDN)
- A virtual Rare Disease Day event held by Genetic Support Network Victoria (GSNV)
- Media pack and Landmark Illuminations organised by Rare Voices Australia
For a full list of all Rare Disease Day events being held in Australia in 2021, please visit https://www.rarediseaseday.org/country/au/australia.
Rare Disease organisations in Australia: