Under the Umbrella?: A Socio-Historical Analysis of Umbrella Organisations for Rare Diseases

This paper addresses the questions of what roles so-called umbrella organisations play in governance of health and medicine and on what basis they are able to do so by historically examining the establishment and development of some such organisations in the field of rare diseases, such as NORD, Genetic Alliance, Genetic Alliance UK and Eurordis. There has been growing attention to rare diseases in the domains of public health policy and biomedical sciences over the last twenty years and also a proliferation of individual disease organisations to act on behalf of patients and their families. At the same time, a number of umbrella organisations have been established to represent these organisations in national and international decision-making processes. Whereas individual disease organisations usually have a coherent patient community to represent, however, umbrella organisations represent a broad range of communities and their attempt to characterise and group their members using the idea of ‘rareness’ has been criticised (e.g. Rabeharisoa et al., 2015). This raises the question of how representative and legitimate their voices are, and ultimately that of whether their participation should count as a form of patient participation. The historical analysis of umbrella organisations in the field of rare diseases demonstrates that they were established as a response to a particular circumstance that patients and/or their families found themselves in at a particular point in history. Their initial success(es) then allowed them to build their capability in other areas and to be seen as a useful contact point by policymakers and health and medical professionals. Analysing their history comparatively, I explore in this paper the issues of representativeness and legitimacy of umbrella organisations and examines whether their active participation in governance of health and medicine ought to be considered as an emergent form of patient participation.