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

• Published in: Child : care, health & development health & development, 2010-07, Vol.36 (4), p.539-548
• Main Authors: Vegni, E., Fiori, L., Riva, E., Giovannini, M., Moja, E. A.
• Format: Article
• Language: English
• Subjects: Adaptation, Psychological; Adolescent; Adult; Age; Age differences; Age Factors; Attitude to Health; attitudes; Child; Children & youth; communication; Feeding Behavior - psychology; Female; Genetic disorders; Grounded theory; Health Knowledge, Attitudes, Practice; Humans; Male; Methodology; Paradoxes; Phenylketonuria; Phenylketonurias - psychology; qualitative approaches; Qualitative Research; Social context; Social environment; Studies; Young Adult
• ISSN: 0305-1862; 1365-2214
• DOI: 10.1111/j.1365-2214.2009.01000.x

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.