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Sean Richardson

General Manager, Alexion Pharmaceuticals UK & Ireland

People with a rare disease often go on a diagnostic odyssey – a long and challenging journey involving repeated referrals alongside multiple unnecessary tests and misdiagnoses. A new survey highlights key areas that need to be improved for patients.

Rare diseases collectively affect around 3.5 million people in the UK and the impact they have on patients, families and society is profound.Of the estimated 6,000 rare diseases, many are severe, chronic and progressive.1

The UK Department of Health and Social Care (DHSC) published the UK’s first Strategy for Rare Diseases in 2013 to help improve the lives of those impacted by a rare disease.2 The aim is to ensure no one gets left behind just because they have a rare disease.

Major gaps in care for patients

However, findings from a 2020 survey of the rare disease patient and caregiver community – run by Genetic Alliance UK and supported by Alexion – show that there is still a major gap in the care of rare disease patients across the entire patient pathway.

Half of patients believe there has been no change in their quality of care, with over a third rating their overall experience of care as poor or very poor, and half believe their care is not effectively coordinated.

Now is the time to listen to the rare disease community, urgently address the current challenges in patient care, and take action to ensure positive change.

The COVID-19 pandemic has worsened the longstanding issues which are facing patients living with a rare disease in the UK, such as receiving a definitive diagnosis, access to specialist care and treatment, and coordination of services. These findings and others from the survey were published in the Reforming Rare Diseases report3.

Identifying key areas to improve patient care

Overall, the survey findings highlight the importance of listening and learning from patients and their experiences. Improvements moving forward must focus on four key areas: quality of care, diagnosis, care coordination, and access to treatment and care, which will help to make a real difference in peoples’ lives and alleviate some of the current burdens being faced.

With the recent DHSC publication of the updated Rare Disease Framework in 2021, now is the time to listen to the rare disease community, urgently address the current challenges in patient care, and take action to ensure positive change.

As a company, we are committed to transforming the lives of people affected by rare and devastating conditions. Our key focus is to ensure the patient voice remains central to the implementation of this policy and build on the close collaboration we already see across the rare disease community. Together, we can work to improve the lives of people with a rare disease and their families.

Date of Preparation: January 2021 | Job code: UK/ALL/0044

1 Rare Disease UK. 2019. Illuminating the Rare Reality.
2 Department of Health and Social Care. 2013. The UK Strategy for Rare Diseases.

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