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Disease education

Challenges in rare diseases:

Misdiagnosis and missed diagnosis

It can take years to get the right diagnosis:

  • Frequent misdiagnosis with more common/likely diseases
  • Low awareness of possible rare diseases
  • Lack of knowledge of any symptom clusters
  • Devastating impact on the patient and their family

40% of patients are misdiagnosed1

Patient identification

Lack of common approach to patient identification:

  • Lack of clarity around what to look for
  • No standardisation of symptom clusters as different patients with the same disease may present with different symptoms
  • Inadequate estimates of the burden of rare diseases

25% of patients wait 5–30 years before receiving confirmatory diagnosis1

Patient care pathway

Uncertainty for healthcare professionals and patients after diagnosis:

  • Limited support networks
  • Unclear referral pathways
  • Lack of guidance on how best to support patients and other family members who might be affected after diagnosis

80% of rare diseases have genetic origins2

1. EURORDIS. Survey of the delay in diagnosis for 8 rare diseases in Europe (‘EurordisCare 2’). 2007. Accessed 3 February 2020;
2. EURORDIS. What is a rare disease? 2007. Accessed 3 February 2020

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