The Experience of Phenylketonuria in Pregnancy and the Developing Maternal–Infant Relationship: A Qualitative Study

Abstract

Phenylketonuria (PKU) is a rare metabolic condition characterised by an inability to metabolise phenylalanine (Phe), found in many foods. When pregnant with PKU, women must adhere to a strict low-Phe diet. If they do not, foetal abnormalities or pregnancy loss can occur. Pregnancies are therefore closely clinically monitored and dominated by dietary management, leaving little “space” for women’s emotional experience. This article explores the emotional impact of PKU during pregnancy and how this effects pre-natal bonding. Based on interviews with six women with PKU, conducted whilst they were pregnant, this article explores their unusual and previously undocumented experience. Image-making during interviews allowed women to uncover aspects of their experience that might otherwise have remained hidden. Interpretative phenomenological analysis of the transcripts and images generated five themes summarising the women’s experiences. Some themes reiterated findings from previous studies, for example, the huge cognitive burden associated with PKU pregnancies and the importance of both expert and informal support to successful pregnancy management. However, new understanding also emerged, including rich description of the emotional load of these pregnancies and strategies that women use to manage this. Anxiety about baby safety was central to their experiences, and the effect of this on pre-natal bonding was explored. This article calls for increased formal and informal support for women with the emotional aspects of their PKU pregnancies, for example, the creation of “attachment-aware” services that support women with their anxiety, promoting strong pre-natal attachment and subsequently protecting maternal and infant mental health throughout pregnancy and beyond.