Home » Rare diseases » Highlighting disparity in rare disease journey and care

Sean Richardson

General Manager UK & Ireland, Alexion, AstraZeneca Rare Disease

One in two patients living with a rare disease believe the quality of their care has not improved in the past five years and 41% have waited more than five years for an accurate diagnosis.1

Creating more awareness of the journey that patients living with rare conditions encounter, highlight the current realities of care. The current shortcomings in care for patients living with a rare disease are telling, as outlined in the Reforming Rare Disease report led by Genetic Alliance UK and supported by Alexion UK using findings of a patient/caregiver survey.1

Equity for people living with a rare disease

Using key findings from the report, a video was produced in consultation with Genetic Alliance UK, Beacon, Medics 4 Rare Diseases and Rare Revolution. It focuses on championing equity for people living with a rare disease by highlighting the urgent reforms needed to improve patient care. It follows one individual on two very different pathways put in parallel, illustrating the long and frustrating journey that so many people with a rare disease experience to reach a diagnosis and receive the care they need.

Creating more awareness of the journey that patients living with rare conditions encounter highlight the current realities of care.

It was important to launch this video for Rare Disease Day 2022 to mark this key milestone and depict the issues that are faced by some 3.5 million people in the UK2 on their journey to diagnosis and care. In the report, one patient mentions “As I am undiagnosed, I get sent off to various hospital departments with no coordinated approach… so frustrating, I feel like a hamster on a wheel, going nowhere.”1 Patients with rare conditions continue to experience a high level of misdiagnosis, with 52% of those diagnosed within the last five years waiting over two years for their diagnosis.1

Raising awareness for faster diagnosis

Our goal for the video is to create another reminder of the importance of implementing the new Rare Disease Framework (launched by the government in January this year) to enable faster diagnosis and better coordination of treatment and care. As a company, accelerating diagnosis and referral for specialist treatment is a priority, as well as implementing metrics and standards to ensure the decision-making process is shared with patients.

[1] Alexion, Reforming Rare Diseases Report, December 2020. Available at: https://rareexperience2020.geneticalliance.org.uk/wp-content/uploads/2020/12/Reforming-Rare-Diseases.pdf. Accessed January 2022.

[2] UK Department of Health and Social Care. Policy Paper: The UK Rare Diseases Framework. 9th January 2021. Available at: https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework. Accessed January 2022.

Date of preparation: February 2022
Document number: UK/NP/0067

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