Introduction

Despite the low prevalence of Rare Diseases RD (5/10,000 persons), more than 5000 RD are recognised and hence, over 30 million EU citizens suffer from these conditions.

Most cases RD are life-threatening, chronic and debilitating, requiring long term specialist and costly formal and informal care. The lack of effective diagnoses and treatments often underlies the shortened life expectancy and quality of life of these patients.

These characteristics mean that RD require the combined efforts of health and social care professionals, politicians, managers and researchers to increase the availability of effective disease management tools to improve care and to extend both life expectancy and Health Related Quality of Life (HRQOL).

Given the nature and the goals of the BURQOL-RD project, it is clear that a fundamental beneficiary of the results of this project will be the families and caregivers of those affected by RD, a group that is often overlooked when considering such devastating diseases.