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.
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.
Authors: A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen Journal: Orphanet J Rare Dis Date: 2017-10-12 Impact factor: 4.123
Authors: Maya T Gerstein; Anne R Markus; Kan Z Gianattasio; Cynthia Le Mons; Janice Bartos; David M Stevens; Nicholas Ah Mew Journal: J Inherit Metab Dis Date: 2020-01-13 Impact factor: 4.982