Current key priorities for the rare diseases patients community in the EU

Abstract

Rare diseases patients face a lack of access to correct diagnosis, lack of information and public awareness, lack of scientific knowledge and expertise, lack of research, lack of therapeutic development, lack of appropriate healthcare, high cost for most of few existing drugs, inequalities in access to treatment and care, and lack of specialised social services. Because of their rarity these patients are a particularly vulnerable segment of the EU population which disserves a European wide strategy based on social justice and equity. Therefore, key priorities for rare diseases patients are issues that are generally taken for granted for patients suffering from more common diseases, such as getting an adequate diagnosis relatively quickly, being offered a range of treatments from which they can chose together with their knowledgeable doctor – the most appropriate one for their specific case, and hopefully being cured or being able to manage their disease towards an improvement of their condition. For most rare diseases patients, this is not the case. Recently, this situation linked to an overall lack of public awareness has started to change and improve, mainly thanks to the relentless work of patient groups and fruitful partnering amongst all interested parties.