How individuals with phenylketonuria experience their illness : an age-related qualitative study

Background The aim of the study was to explore the illness experience of individuals affected by phenylketonuria (PKU) and its differences in different patient age groups. Methods A qualitative-interpretative methodology was used through in-depth interviews. Textual data were explored using the principles of grounded theory. Results Forty-seven patients participated in the study, aged from 10 to > 25 years old. The results suggested the age-related PKU experience: (1) a paradox, either to feel normal but isolated from the social context, or to be different while participating in the convivial aspects of the social being; and (2) the need for education about the disease tailored to the individual and growing needs. Specific themes seem to characterize each age range. Conclusions This study constitutes a first attempt at understanding PKU from a non-medical-biological perspective.