Half of rare diseases misdiagnosed

The report by Rare Disease UK (RDUK) found that almost 20 per cent of sufferers lived with their conditions for more than five years before they received an accurate diagnosis. More than 10 per cent had to wait over a decade.

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

Rare diseases are classified as those which affect one in 2,000 people. Despite the name, RDUK says such conditions are "surprisingly common", with 3.5 million 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 co-ordinated 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.