Fifty percent disabled? Entanglements of disability and rare inborn errors of metabolism

Katarzyna E. Król & Jan Frydrych (Institute of Philosophy and Sociology, Polish Academy of Sciences & University of Warsaw, Poland)

Panel: Rare diseases in health policies and public health

This qualitatively informed paper looks at the families with children diagnosed with rare inborn errors of metabolism in Poland and has two aims.

Firstly, drawing on critical disability studies, it reflects on the notion of disability in case of rare genetic disorders. Recognizing that disability is a fluid and stigmatizing category, which on the one hand can burden individuals, on the other however allows for state aid. We look at the ways in which families reflect on the notion of disability and operationalize it. We do it by focusing, among others, on the experiences of obtaining formal disability status by families with children diagnosed with rare inborn errors of metabolism, despite their widely expressed contesting approaches towards this term. We juxtapose it with the parents’ reflections on everyday experiences of exclusion, such as: intensified caring practices excluding the parent from their professional career, frequent hospital stays influencing caring and parenting dynamics, dietary regimen affecting school life and the process of establishing peer relationships.

Secondly, by drawing on the experience of adult patient we show conditions that need to be fulfilled to make the benefits resulting from identifying with disability outweigh disadvantages of such identification.