Parenting a child with Phenylketonuria (PKU): An interpretative phenomenological analysis (IPA) of the experiences of parents

Research output: Contribution to journalArticle

  • Katie Carpenter
  • Anja Wittkowski
  • Dougal J Hare
  • Emma Medford
  • Stewart Rust
  • Simon A Jones
  • Debbie M Smith
Original languageEnglish
Pages (from-to)1074-1086
Number of pages13
JournalJournal of Genetic Counselling
Issue number4
Early online date21 Feb 2018
Publication statusE-pub ahead of print - 21 Feb 2018
Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological damage if left untreated. PKU is identified through newborn screening in developed countries and treatment begins immediately to prevent these severe consequences. When a child is diagnosed, parents must assume immediate responsibility for the management of PKU and prevention of neurological damage. Quantitative studies have identified significant psychosocial stressors for parents but little is known about how the parents experience this process. This study aimed to explore the experiences of parents of children with PKU under the age of two. It is the first study to examine these experiences in this way. Seven parents were interviewed about their experiences, and interpretative phenomenological analysis was used to analyse the data. Three main themes were identified: control, striving for normality and acceptance of PKU as a continuum. Links between the themes and processes underpinning the results were explored with relation to existing literature and theories from a clinical psychology perspective. The role of acceptance of PKU was central to the parent’s experiences. Clinical implications and suggestions for further research are discussed.

    Research areas

  • Phenylketonuria, Parents , Experience, Interpretative phenomenological analysis, Qualitative


  • Parenting a child with Phenylketonuria

    Rights statement: © 2018 Journal of genetic counselling. This is a post-peer-review, pre-copyedit version of an article published in the Journal of Genetic Counselling. The final authenticated version is available online at:

    Accepted author manuscript, 872 KB, PDF document

Related faculties, schools or groups

External organisations

  • University of Manchester
  • Cardiff University

View graph of relations