Doctors are highlighting the serious impact of diagnostic delay on individuals and their families living with rare conditions.

Bringing the ‘Five Year Wait’ to life

Today Medics for Rare Disease has launched a campaign highlighting the impact of delayed diagnosis in rare disease. The campaign focuses on a clever video that will be shared over social media. This campaign has been funded by Alexion, AstraZeneca Rare Disease who has inputted into the content.

Dr Genevieve lives with a rare condition and shares her unique story. The video displays an intentional delay attributed to ‘buffering’ at a critical time in the story. This visual metaphor reflects the delay that people living with rare disease face when looking for answers and information about what is happening to them.

The interruption induces a level of frustration in the viewers, as they wait for the story to continue. They are led to believe it is a loading issue. Just at the point when they are likely to give up on waiting, they will see the following statement…

Imagine waiting 5 years to find out what is happening to you

“Being diagnosed with a rare disease that has no cure made me feel utterly powerless. As both a patient and a doctor I realised that I could use my unique perspective to raise awareness for rare diseases by telling my story. Turning a devastating diagnosis into the opportunity to use my voice to advocate for those of us in the rare disease community has helped me to regain some of that power.” Dr Genevieve

Viewers are subsequently signposted to view Genevieve’s full story on our website. The full video explores her journey – from symptoms, through to diagnosis, and the impact this has had on her and her family.

Individually rare, collectively common

3.5 million people in the UK live with a rare disease so rare disease is individually rare, but collectively common. Despite this current medical training continues to deprioritise learning about rare disease and the phrase “common things are common” is still widely used as a clinical decision-making tool. This contributes to unnecessary diagnostic delay.

People living with rare conditions in the UK wait on average five years to receive a diagnosis. Within this time many people will face uncertainty, dismissal and mis-diagnoses. The complexity of rare disease, coupled with limited healthcare professional awareness about the unique challenges they cause patients, can lead to frustrating delays.

It’s important to recognise the profound impact that living with a rare disease, especially one which is undiagnosed, has on people’s lives.

“Genevieve’s story is so impactful. She is a doctor who knows how the system works and even still her experience of being diagnosed with a rare disease was exceptionally challenging. We hope that Genevieve’s personal story will resonate with other healthcare professionals and inspire them to improve their clinical skills – to become Rare Aware.” Dr Lucy McKay CEO, Medics for Rare Disease

Rare Disease 101 training can help reduce diagnostic delay

This awareness campaign points the audience towards resources to increase their understanding of rare disease and signpost them to further support. Medics for Rare Disease provides free and flexible rare disease training to all UK healthcare professionals and students. Its mission is to shape a medical profession that can provide timely diagnosis and excellent care to people living with rare disease.

Training is easily accessible online on the charity’s ‘Learn Platform’ and in-person training is also available on request. Last year they trained over 1000 healthcare professionals to become Rare Aware. Rare Disease 101 training can be accessed at learn.m4rd.org

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.

“We were delighted to support this campaign, especially because of Gen’s courageous honesty in sharing her story — we are incredibly proud to have her as part of our team. Rare diseases touch not only patients but also our friends, families and wider community, and raising awareness helps ensure everyone affected feels seen and supported.” Lauren Preston, Managing Partner of Worthing Medical Group

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With thanks to…

Medics for Rare Disease is very grateful to Genevieve for her participation in the campaign; Worthing Medical Group for allowing us to film in an authentic setting; Ogilvy for providing their expertise and creating the campaign; and Alexion Pharmaceuticals for initiating and funding the campaign.

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About Medics for Rare Disease

Medics for Rare Disease is a charity that provides free Rare Disease training for UK healthcare professionals. Rare Disease affects 3.5 million people in the UK and most conditions start in childhood. People with rare conditions wait an average five years to reach diagnosis, commonly experiencing multiple referrals, unnecessary tests and misdiagnoses. Despite this, most healthcare professionals will never receive dedicated rare disease training. Medics for Rare Disease exists to improve the healthcare journeys of people living with rare conditions.

Medics for Rare Disease partners with commercial companies in order to receive funding and to progress its mission. The charity works independently from these companies. Sponsorship does not equate to endorsement of any company or its products. To find out more visit www.m4rd.org/sponsors