Your browser is no longer supported

For the best possible experience using our website we recommend you upgrade to a newer version or another browser.

Your browser appears to have cookies disabled. For the best experience of this website, please enable cookies in your browser

We'll assume we have your consent to use cookies, for example so you won't need to log in each time you visit our site.
Learn more

Rare disease sufferers 'often misdiagnosed'

  • 2 Comments

Nearly half of people with rare diseases are initially misdiagnosed, a survey suggests.

The report by Rare Disease UK says almost 20% of sufferers surveyed lived with their conditions for more than five years before they received an accurate diagnosis. More than 10% had to wait over a decade.

Only 26% of the 600 people questioned said they were diagnosed within three months of first noticing symptoms.

Rare diseases are classified as those that affect one in 2,000 people or fewer. Despite the name, RDUK says such conditions are “surprisingly common”, with 3.5 people in the UK experiencing one at some point in their lives.

Conditions include all childhood cancers, muscular dystrophy and Cockayne syndrome, characterised by poor growth and premature ageing.

Alastair Kent, chair of RDUK, said: “Many people living with rare diseases and their families have to go through years of medical tests and procedures before an accurate diagnosis can be made.

“Not only is it often a battle to get an accurate diagnosis, patients and families then struggle to find out the medical impact of a condition and how to manage it, on top of having to cope with day-to-day life without adequate support.

“The results of RDUK’s survey hammer home the need for a coordinated national plan for the diagnosis, treatment and research of rare diseases.”

The survey found that almost a third of those who responded had received more than three incorrect diagnoses, with a further 20% seeing more than six doctors before they had a final diagnosis.

It also highlighted a lack of information available to sufferers, with more than half saying they felt they were not fully briefed when they were diagnosed. Almost two-thirds complained of not being given any information on patient support groups when they were first diagnosed.

  • 2 Comments

Readers' comments (2)

  • For my own personal experience I have Lupus and it took years to be diagnosed, was misdiagnosed as other illnesses before I got the correct treatment.

    Unsuitable or offensive? Report this comment

  • I was diagnosed eventually with coeliacs after many years of anaemia and GI symptoms. I was told I had IBS.

    Unsuitable or offensive? Report this comment

Have your say

You must sign in to make a comment

Please remember that the submission of any material is governed by our Terms and Conditions and by submitting material you confirm your agreement to these Terms and Conditions. Links may be included in your comments but HTML is not permitted.

Related Jobs