Understanding the Rare Disease Diagnostic Journey
This campaign has been funded by Alexion, AstraZeneca Rare Disease, who has inputted into the content
The Five Year Wait
For people living with a rare disease, the journey to diagnosis is a long one. In the UK, receiving a rare disease diagnosis can take a frustrating five years. To put this in perspective, five years is a long period of time – you will experience multiple birthdays, health check-ups and even prime ministers.
The Challenge of Rare Disease Diagnosis
The complexity of rare diseases coupled with limited awareness can lead to frustrating delays. Even healthcare professionals themselves face this extended wait time when living with a rare disease. Imagine waiting five years to know what the disease you live with is.
Changing the Narrative
When you live with a rare disease, every moment counts. This must change. The mission is to change the ways we think about rare diseases among medical students and doctors in training. To change attitudes, it’s important to highlight the profound impact that living with a rare disease, especially one which is undiagnosed, has on people’s lives.
Watch Genevieve’s story and be part of the change. Her experience brings the diagnostic odyssey to life – its twists, uncertainties, and moments of resilience. No one should spend years searching for a diagnosis.
If would like to learn more about rare disease, enrol on our Rare Diease 101 course
UK/UNB-U/0127
Date of preparation November 2025