A quick reference guide for rare disease: supporting rare disease management in general practice

Abstract

A rare disease is defined as any life-limiting or chronically debilitating disease affecting <1 person in 2000, with many rare diseases affecting <1 person per 100 000. There are approximately 8000 rare diseases, with recent analysis suggesting a conservative prevalence of 3.5–5.9%.1 Over the last decade, tremendous advances have been made in rare disease identification, treatment, and support. This has been largely driven by an increasingly vehement consolidated patient voice and an EU directive (2009) that all member states required a rare disease plan/strategy by 2013. In 2013, the UK strategy for rare disease was published,2 followed by the launch of rare disease implementation plans for the devolved nations (Scotland in 2014;3 Northern Ireland in 2015;4 Wales in 20175). Rare diseases have major unmet medical needs. Healthcare professionals and rare disease charities often hear tragic stories of patients with rare life-threatening diseases where responsible doctors have been unable to help as they have never heard of the condition, nor seen a similar case presentation, nor found relevant knowledge and expertise online. More than 80% of individuals report difficulty in accessing relevant information and >70% of GPs struggle to identify or manage rare diseases. A long diagnostic odyssey is common, with patients often feeling misunderstood, isolated, vulnerable, receiving …