Half of all patients in the UK with a rare disease are initially misdiagnosed and wait years for doctors to correctly determine their condition, a shocking report by Rare Disease UK has found.

Almost 20% of 600 respondents had lived with their rare conditions for more than five years before being accurately diagnosed, only 26% of patients were diagnosed within three months following the emergence of symptoms and, astonishingly, over 10% had to wait more than 10 years.

Moreover, the report Experiences of Rare Diseases: An Insight from Patients and Families, revealed that the path to correct diagnosis can be extremely traumatic for patients and their families in the UK, with nearly one-third of patients receiving more than three incorrect diagnoses, and a further 20% visiting more than six doctors before their condition was accurately determined.

Rare diseases, which include muscular dystrophy, all childhood cancers and conditions such as Lowe syndrome, are actually quite common, affecting 3.5 million people in the UK at some point in their lives. And yet there seems to be a serious lack of information on many of the individual illnesses, the charity found.

Information lacking

More than 50% of patients surveyed said they had not been given enough information on their disease and some even said they hadn’t received any at all. Less than a quarter said they received enough information on relevant clinical trials, while 60% were not adequately informed of research into their conditions.

“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,” said Alastair Kent, chair of Rare Disease UK. “This is a hugely important issue that needs to be tackled; patients and families should not have to face an inequitable level of care from the NHS because they have the misfortune of their condition being rare”.