A timely rare disease diagnosis can facilitate access to appropriate care and support. Yet getting a timely and accurate diagnosis can be a major challenge for people living with a rare disease.

• Many people wait an average of 5–7 years for a diagnosis, if one is ever made
• 4 out of 10 people living with rare disease in Australia report seeing more than 6 doctors and having at least 1 misdiagnosis¹
• Around 50% of people with a rare disease who are assessed by a health professional will remain undiagnosed²

Health professionals play an important role in both facilitating a diagnosis and supporting people who remain undiagnosed to manage their symptoms, make informed decisions and care for their mental health. The resources listed below may be helpful for clinicians who suspect a patient has an undiagnosed rare disease.

Australia’s first-ever National Recommendations for Rare Disease Health Care  (the Recommendations) were co-designed by an extensive multi-stakeholder consultation process led by the University of New South Wales, the University of Western Australia, Macquarie University and Rare Voices Australia (RVA).²

Recommendation 2 addresses timely diagnosis and provides recommendations for diagnosis and supporting people and families still waiting for a diagnosis:

Recommendation 2.1: Identify red flags that indicate someone may have a rare disease

Recommendation 2.2: Follow established protocols and pathways for timely and accurate diagnosis

Recommendation 2.3: Support people living with rare disease who remain on the diagnostic odyssey³

The Recommendations are endorsed by RVA and 10 national colleges and bodies. They have also been officially recognised as an accepted clinical resource by The Royal Australian College of General Practitioners (RACGP) and The Australian Primary Health Care Nurses Association.

If you are considering a referral to a genetics service, the Human Genetics Society of Australasia  lists clinical genetics services in each state. Most public clinical genetics services have a referral line doctors can contact for advice regarding a referral.

Delays in rare disease diagnosis can significantly impact individuals and their families. In the video below, Maria shares her experience of remaining undiagnosed and ways that healthcare professionals can help.

The Rare Disease Education and Support Resources for Primary Health Care Professionals web page may also be helpful.

You can direct patients who think they may have an undiagnosed rare disease to this web page, which has been written for consumers.

Additionally, you may find the resources on the Supporting the Mental Health and Wellbeing of People Living with a Rare Disease web page helpful. MindSpot GP is a useful resource for free digital mental health supports.

FaceMatch is a free tool that may help people who suspect they, or their child, could have a genetic disorder. The tool tries to find a diagnosis by studying and matching facial features and comparing them to people who already have a diagnosis. If a potential match is found, FaceMatch can also help to connect patients with medical experts for further guidance. The website explains the entire process.

If you would like more information about rare disease policy and advocacy, please go to RVA’s website. RVA is the national peak body for Australians living with a rare disease.

People living with rare and undiagnosed diseases often feel isolated. Connecting with peers can be helpful.

Syndromes Without A Name (SWAN) Australia provides support to children with complex, rare, and undiagnosed genetic conditions and their families.

Genetic Alliance Australia provides support to both children and adults with rare and undiagnosed rare diseases and their families.

This resource has been co-designed by RVA’s Scientific and Medical Advisory Committee and RVA Partners, Genetic Alliance Australia and Syndromes Without A Name (SWAN) Australia.