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. https://www.eurordis.org/sites/default/files/publications/Fact_Sheet_Eurordiscare2.pdf. Accessed 3 February 2020;
2. EURORDIS. What is a rare disease? 2007. https://www.eurordis.org/sites/default/files/publications/Fact_Sheet_RD.pdf. Accessed 3 February 2020

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