Survey says: Misdiagnosis of rare diseases is common

No doubt many of you reading the above thought, “Well, I could have told you that!” Here’s a statistic: The  of 5,980 people about the delay in diagnosis for 8 rare diseases in Europe, published in 2004, found that 40% of individuals were initially misdiagnosed. For many of the survey respondents, misdiagnosis led to inappropriate medical interventions including surgery, medicines, and psychological treatment. In addition to the delay in diagnosis:

• 25% of people reported waiting between 5 and 30 years from the time of first symptoms to a confirmatory diagnosis of their disease
• 25% of people had to travel to a different region to obtain a diagnosis and 2% had to travel to a different country
• In 33% of cases, the diagnosis was announced in unsatisfactory terms or conditions. In 12.5% of cases, it was announced in unacceptable ones
• The genetic nature of the disease was not communicated to the patient or family in 25% of cases (despite most rare diseases having a genetic component)
• Genetic counseling was only provided in 50% of cases

The reason I’m bringing this survey to your attention now is for two reasons. One is that it provides some good statistics for you to quote when talking about rare diseases. The second is that the survey results, and those of the third EurordisCare survey, have been published in a book form, which I’ll discuss in another blog.

• EurordisCare2 Survey information and explanation
• Why Is Getting a Rare Disease Diagnosis So Difficult?
• The Undiagnosed Diseases Program at the National Institutes of Health

Mary Kugler, RN