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Negotiating Pku: Insights from New Zealand
Abstract
This paper explores the experience for nine New Zealanders of living with Phenylketonuria (PKU). PKU is an inherited disorder of metabolism, detected by newborn screening and treated primarily through adherence to a strict and rather unpalatable diet which current medical opinion suggests should be lifelong. Our goal is to problematise this biomedical notion of 'adherence' to such a diet, and to do so by drawing on two areas of expert knowledge which are relatively unexplored in the medical literature - the views of people living with the condition and the social science literature on food and consumption. Both of these systems of knowledge provide useful contextual information to explore the complexity of adherence and move it beyond a simple notion of rational decision making. We suggest that biomedical 'problems' such as adherence are quite usefully addressed by hybrid research plans such as the one which underpins this project. However, conveying the resulting information back outwards into the biomedical sphere is rather more difficult for it implies the existence of a community of hybrid readers and a hybrid literature in which to place such work.
This paper engages critically with constructions of biological citizenship through analysis of the experiences of 10 New Zealand families with rare and currently incurable genetic disorders affiliated to the New Zealand Organisation for Rare Disorders (NZORD). While sharing elements in common with other health activist support groups (such as the forging of research collaborations between sufferers and scientists), NZORD activism is also influenced by New Zealand's situation on the periphery of genetic medicine. Group members demonstrate an endorsement of a modernist heroic vision of medicine in the public sphere allied with a subversive, simultaneous downgrading of medicine's status to mere technical services in the realm of the private sphere and within the medical clinic. The political goals for New Zealand's biological citizens are also shown to differ depending upon the possibility of treatment for various genetic conditions. This suggests that a range of new trajectories in the experience of “bottom up” genetic health activism is emerging in New Zealand.
To explore the experiences of patients affected by phenylketonuria, a genetic metabolic disease currently screened during the neonatal period, in whom treatment was begun shortly after birth. Dietary treatment of the metabolic abnormality can prevent effects on the central nervous system through infancy, adolescence, and adulthood, but the associated challenges for personal and social life, such as everyday problems of adherence to a strict regimen, have been inadequately studied.
A qualitative study was performed using semistructured interviews involving 20 patients aged between 8 and 23 years and referred to a pediatric hospital for phenylketonuria. A thematic framework was formulated in advance which identified the main issues to be investigated, and a list of questions was devised. The interviews were audiotaped and were all transcribed and analyzed by 3 investigators with the support of NVivo software.
Patients showed a fair knowledge of their condition but did not feel that they were truly ill. However, they adhered to their treatment regimen although they perceived no direct, immediate, adverse effects of their disease. A long-standing habit of following a demanding diet from infancy emerged from the interviews. A major problem for these patients is the difference perceived when comparing themselves with their peers, and the fear of stigmatization can prevent patients from participating in social occasions during which food is shared. One coping strategy patients may use is to disclose their condition to peers to overcome isolation.
The impact of long-standing, demanding health behaviors on the social life of patients affected by a chronic metabolic disease must be recognized, taking into particular consideration both social functioning and adherence to dietary treatment.
This study explored the lived experience of phenylketonuria (PKU) for the New Zealand adult and its relevance for issues of treatment adherence.
In-depth qualitative interviews were conducted with eight New Zealand adults with early-treated PKU regarding their experiences of living with PKU. The interviews were transcribed, and then analysed using grounded theory. A review of relevant medical, scientific and social science literature placed this analysis in a broader context.
A number of consistent themes emerged as characteristic of the participants' life experiences, including a chronic uncertainty existing on several levels, the challenges posed by the maintenance of interpersonal relationships with respect to the PKU diet, and a basic incompatibility between the PKU diet and many lifestyle demands. Social science commentary on the topics of risk management, stigma, and other types of "dieting" experiences further elucidates these themes.
Based on the findings of this research, medical practitioners may be able to better tailor their services for, and interactions with, the adult PKU community, for example, by facilitating self-management, conveying realistic expectations of metabolic control, and increasing the volume of information directed to PKU adults.
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