The medical experience of a patient with a rare disease and her family

Abstract

This letter considers the main challenges that people with rare diseases and their families face: Delay in diagnosis, lack of appropriate support and information, and impaired access to treatment. The differences in medical experience between a patient with a rare disease and one with a common one are made through the use of a real-life example: The diagnosis of leiomyosarcoma received by my mother. I highlight how patients with rare disease are often misdiagnoses and how their symptoms are often overlooked. I also highlight the isolation patients with rare diseases and their families experience due to the lack of knowledge about their condition, the struggle to access treatment and the small amount of information and evidence based medicine for managing rare conditions. This article was the winning entry in the Findacure essay contest 'The Student Voice'. More information about Findacure can be found at http://www.findacure.org.uk.