Growing Up with a Hidden Disorder: An Ethnography of the Metabolic Condition MCADD in New Zealand

Abstract

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an inborn error of metabolism that was included in newborn screening programmes in New Zealand in 2006. Before this time, one in four undiagnosed babies died because the enzyme to metabolise fat was missing or damaged. Once diagnosed, children may never become symptomatic due to ongoing treatment, which is as simple, and as complicated as eating regularly. Childhood illnesses that cause vomiting, high fever or loss of appetite necessitate hospitalisation until the child is well again. Although studies have assessed the impact on families immediately after MCADD diagnosis, less attention has been paid to the effect on children’s developing personhood. This nationwide New Zealand study examines the daily lived experience of the first generation of children to be diagnosed with MCADD via newborn screening and uses a variety of methods to capture children’s perspectives across the age range, from newborn to age 10, along with those of family members and health professionals. These methods include participant observation, semi-structured interviews, photovoice, metaphor sort technique, body mapping, and storyboarding. Drawing on Bourdieu’s concept of habitus I show that a body diagnosed with the potential for illness has as much capacity to transform a young life as illness itself. The diagnosis creates a medicalised body in need of preventative treatment, while outpatient clinics and hospital admissions help construct the impression of a pathologised body. This thesis finds that personhood, as embodied and situated, is affected by the experiential, sensory knowledge of MCADD treatment (feeding and hospitalisation) in the first few years of life and that a shadow habitus remains even after moving through this phase of early prevention. The thesis structure itself reveals the shifting and elusive nature of the porous boundaries between illness, health and dis-ease, circling through a variety of situated pea rspectives and modes of storytelling.