Reducing rare disease diagnostic delay: Medics for Rare Disease launches new awareness initiative

Medics for Rare Disease launches campaign highlighting the “five-year wait” faced by patients with rare diseases

Medics for Rare Disease has launched a new awareness campaign highlighting the significant impact of delayed diagnosis in rare disease, with touchNEUROLOGY proud to support the initiative and help amplify its educational message.

At the center of the campaign is a powerful short video featuring Dr Genevieve, a doctor living with a rare disease, whose personal experience brings the diagnostic odyssey faced by many patients to life.

You can find the full story here

The campaign uses an intentional “buffering” interruption within the video as a visual metaphor for the years many patients spend waiting for answers. Viewers initially believe the video has frozen before a message appears stating:

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

The initiative aims to raise awareness about the realities of rare disease diagnosis and the urgent need for earlier recognition and improved education.

Dr Genevieve shared:
“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”

Her experience also highlights how diagnostic delay can persist even among medically trained individuals familiar with healthcare systems. The campaign reinforces that rare diseases are not necessarily “too rare to consider” in routine clinical practice and encourages healthcare professionals to remain curious, recognize diagnostic uncertainty and escalate investigation when symptoms remain unexplained.

Rare diseases may individually affect small patient populations, but collectively impact an estimated 3.5 million people in the UK. Despite this, patients wait an average of five years to receive a diagnosis. During this time, many people experience repeated referrals, uncertainty, dismissal and misdiagnosis.

According to Dr Lucy McKay CEO of Medics for Rare Disease, increasing awareness among healthcare professionals remains critical:

“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”

The initiative also aligns with Medics for Rare Disease’s broader mission to improve rare disease education among frontline healthcare professionals. Through its free “Rare Disease 101” training and educational resources, the charity aims to improve awareness of rare disease “red flags”, support earlier diagnosis and help clinicians better understand the lived experiences of patients navigating prolonged diagnostic journeys.

Last year alone, the organization trained more than 1,000 healthcare professionals through its online learning platform.

For neurologists and other specialists managing complex multisystem presentations, the campaign also serves as a reminder that many rare neurological diseases present with subtle, overlapping or evolving symptoms that can contribute to significant delays in diagnosis and treatment.

touchNEUROLOGY is supporting the campaign as part of its wider commitment to improving education, awareness and multidisciplinary understanding across neurology and rare disease care.

The full campaign video and educational resources are available via the Medics for Rare Disease website.

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.

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

The initiative is sponsored by: Alexion AstraZeneca Rare Disease, Alnylam Pharmaceuticals, Amicus Therapeutics, Emotive, Kyowa Kirin, Medscape Education, SOBI, pRxEngage and Takeda UK. Sponsorship does not equate to endorsement of any pharmaceutical company or its products. To find out more visit www.m4rd.org/sponsors