Betwixt and between being healthy and ill: the stigma experienced by young adults with phenylketonuria

Abstract

Today most adults with phenylketonuria (PKU) have followed a protein restricted diet from early infancy. This makes their disorder an invisible impairment which becomes visible only when food is served. When adhering to medical advice in public, adults with PKU find themselves in a liminal space, betwixt and between being medically ill and socially healthy. The affected adults may pass as being 'normal' if they ignore medical advice and eat ordinary food. By doing this, they risk severe neurological health consequences. Due to the rarity of this illness and limited knowledge regarding the health consequences of dietary intervention in adulthood, implications of adult PKU can be difficult to explain to others. Conscious stigma-handling strategies are therefore required. This article, which is based on qualitative interviews, discusses stigma and management strategies in the lives of eleven adults aged 20-30 with PKU.

Living with a rare disorder: a systematic review of the qualitative literature

“…), creating social attention and visibility (Diesen et al. ), restraints in terms of social and physical activities (Petersen ; Frank et al. ; Brodin et al.…”

“…; Diesen et al. ; von der Lippe et al. ), act nicely and educate people with a lack of knowledge about the diagnosis, and overlook unhelpful comments (Diesen et al.…”

“…), act nicely and educate people with a lack of knowledge about the diagnosis, and overlook unhelpful comments (Diesen et al. ), develop better self‐management skills regarding the disease and its treatment (Brodin et al. ; Palareti et al.…”

“…; Diesen et al. ; von der Lippe et al. ), and if choosing to do so, what to tell, when and to whom (Petersen ; Vegni et al.…”

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

“…Sharing meals with others is known to have high social significance; hence, patients living with dietary restrictions experience numerous potentially stigmatising situations (Diesen et al 2014). Since perceived stigmatisation is a predictor for poorer psychological adjustment (Masnari et al 2013), it is of great importance that patients are supported in so-called stigma-handling strategies (Diesen et al 2014), such as social skills training or school-based interventions, in which peers are provided with basic information about the condition, resulting in better understanding (Sharman et al 2013).…”