News from Rare Disease UK and the Genetics Alliance UK reference today's launch of report on the experiences of patients and families affected by rare diseases. Today, Rare Disease UK, a joint initiative of Genetic Alliance UK and others in the field of rare diseases, launched it's report on the experiences of patients and families affected by rare diseases.  As you know, over 80% of rare conditions are genetic in origin and so the findings are extremely relevant to our work.

Over 600 patients and families responded to the survey, which covers 119 different conditions.  This survey is one of the most comprehensive ever carried out in the UK on the state of services and information for people living with rare diseases.

Among the headline statistics that this report highlights is that patients face significant delays in diagnosis and are often misdiagnosed numerous times.   Over half of patients surveyed were misdiagnosed.  Over 50% had to wait more than a year for a diagnosis with over 1 in 10 waiting more than 10 years.

When looking at how services are coordinated Rare Disease UK identified that over 75% of respondents didn't have a Care Coordinator (or someone similar) to help them with their care, and less than half of respondents knew of a specialist centre for their condition.  The effect of this is that health professionals can often look at each symptom individually and not see the whole picture, patients end up feeling lost in the system and there is a lack of continuity of care.

This is just a taster from the report.  If you would like to review the publication follow this link Experience of Rare Diseases: An Insight from Patients and Families