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.