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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

At Alpharmaxim, we have extensive experience in helping speciality healthcare companies across the world communicate with healthcare professionals and patients, particularly in rare diseases. We are passionate about helping our clients tell their stories and fulfil their promises, and we aim to make a real difference to patients, families and healthcare professionals.

If you would like to know more, please visit our website, or contact Sophie Jones on +44 (0)161 929 0400.