The Rare Reality: An Insight into the Patient and Family Experience of Rare Disease

Last week, Rare Disease UK launched a report of its recent patient survey, looking at exploring what it is like to live with a rare disease. This week's blog discusses the many findings that were published in the report. Their report: “The Rare Reality – an insight into the patient and family experience of rare disease” is available to download.

In 2010, Rare Disease UK performed their first patient survey. It painted a bleak picture, showing the massive delays in diagnosis and poor access to mediocre care most rare disease patients faced. Five years later, in 2015, Rare Disease UK repeated the survey, with the aim of measuring progress.

They found that rare disease patients still face difficulties at diagnosis and in accessing information and services. One of the main issues rare disease patients face is the need to see multiple doctors, with different specialities. This means most patients must attend a large number of appointments, and since their doctors don’t tend to share information well, also means patients do not receive rounded care. This was a major reason for the foundation of the National AKU Centre, which offers AKU patients access to a comprehensive, one-off service in Liverpool.


photo by Rare Disease UK/ Josh Tucker

Some of the key messages highlighted in the report include:

-    7 in 10 patients feel they weren’t given enough information at diagnosis. One patient said: “If it wasn’t for the internet, I would know nothing about my condition”.



-    52% of patients receive at least one incorrect diagnosis, and 37% receive at least 3 or more.



-    Most rare disease patients do not receive coordinated care, only 19% have a named care coordinator.



-    80% of respondents would like to take part in clinical research. One of our Welsh patients, Tony Esmond, was featured in a case study describing his experiences in the DevelopAKUre clinical trials.

While there has been progress, the majority of patients still experience too many difficulties. It seems very little has changed for rare disease patients in the last 5 years. One of the biggest changes in that time is the launch of the UK Strategy for Rare Diseases – a UK government document listing their responsibilities to improve the diagnosis and care of rare disease patients. We’re still to see the impact of this strategy, but the hope is that it will improve the situation for rare disease patients.


photo by Rare Disease UK/ Josh Tucker

Other initiatives to improve things for rare disease patients include:

-    The 100,000 genome project: a UK-wide research project looking to improve the diagnosis of rare diseases (and cancers and infectious diseases), by using genetic data. If successful, it could make diagnosis much easier. A planned, connected rare disease database would mean that tracking patients (and more importantly their medical records) would be improved too.

-    IRDiRC (the International Rare Diseases Research Consortium) are working with the European Commission to increase funding for projects researching rare diseases. Their goal is to have an approved diagnostic test for every rare disease by 2020.

-    Rare Disease UK are increasing their lobbying and engagement with politicians, by continuing their Parliamentary Receptions on Rare Disease Day, and founding an All-Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions. This committee would meet regularly to discuss patient experience, and in particular uphold the UK strategy on rare diseases.

Rare Disease UK will repeat the patient experience surveys again in 2020, to measure the impact after another 5 years. In that time, we’ll continue to offer the best possible care for AKU patients, and engage with Rare Disease UK to improve the situation generally. Follow our blog to read about the Welsh, Scottish and English Parliamentary Receptions next month.




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