Date of Award
2020
Document Type
Master Thesis
Degree Name
Masters of Science (Research)
Department
Nursing & Healthcare Sciences
First Advisor
Bernadette Gilroy
Second Advisor
Dr. Anna-Marie Greaney
Abstract
Phenylketonuria (PKU) is a rare genetic condition affecting the body’s ability to metabolise the amino acid phenylalanine (PHE). A build-up of PHE in the blood and brain can result in irreversible intellectual disability and developmental delays. Ireland has one of the highest prevalence rates of PKU in Europe and some of the earliest treated patients with PKU in the world. However, little is known about their lived experience with PKU. Furthermore, cost-benefit analysis of treatments for rare diseases in Ireland is principally based on quantitative data. More qualitative data is needed to highlight the quality of life experienced by people with PKU living in Ireland and to facilitate a comprehensive Health Technology Assessment (HTA) process in the context of rare conditions. The aim of the current research is to elicit quality of life as experienced by adults with PKU on long term dietary therapy living in Ireland and add to the existing body of literature based on qualitative lived experience research. A voluntary sample of 11 participants were recruited with assistance from the PKU Association of Ireland. Data was collected using phenomenological semi-structured interviews. Thematic analysis was guided by Colaizzi’s Framework (1978) in conjunction with nVivo. Two overarching themes were identified within the data: PKU: An Illness and PKU: A Lifestyle. Participants expressed these views simultaneously when discussing life with PKU. Pertinent subthemes include barriers and facilitators in adhering to dietary therapy, wellbeing, psychosocial implications of the PKU regime, fertility, difficulty transitioning to adult services, concern for older age, hope for future developments and implications of government policy. These findings offer new insight into the quality of life experienced by adults with PKU living in Ireland. As the participant group are one of the oldest PKU communities on long term dietary therapy, this research also makes an international contribution to understanding the PKU experience.
Recommended Citation
O'Shea, Mary-Ellen, "Living with PKU: The Lived Experience of Irish Adults with Early Diagnosed Phenylketonuria on Long Term Dietary Therapy" (2020). Theses [online].
Available at: https://sword.cit.ie/allthe/776
Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.
Access Level
info:eu-repo/semantics/openAccess
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Nutritional and Metabolic Diseases Commons, Therapeutics Commons