Table 1.

Australian survey data: Diagnostic delays are common in rare diseases.

Age Group	Results	Reference
Adults	Time to diagnosis: 1 year in 51.2% of cases ≥5 years in 30.0% of cases Number of doctors seen to get confirmed diagnosis: 1–2 in 33.7% of cases 3–5 in 37.4% of cases ≥6 in 28.8% of cases Number with at least one incorrect diagnosis: 45.9% of cases	Molster, 2016 [13]
Children	Time to diagnosis: 1 year in 59.8% of cases ≥3 years in 8.0% of cases Number of doctors seen to get confirmed diagnosis: 1–2 in 12.5% of cases 3–5 in 41.8% of cases ≥6 in 27.7% of cases Number with at least one incorrect diagnosis: 27.3% of cases	Zurynski, 2017 [12]
Key Considerations: Receiving a diagnosis of a rare disease is a life-changing event; delays in receiving a diagnosis are associated with anxiety, stress, symptomatic worsening, inappropriate use of resources and lack of access to appropriate support and care; Health professional education is needed to increase awareness of rare diseases and improve the diagnostic process; Resources, including access to multi-disciplinary care teams, are needed to support the requirements of people newly diagnosed with rare diseases.