Living with Phenylketonuria: Lessons from the PKU community

INTRODUCTION: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children. METHODS: In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria). RESULTS: 631 participants (adults, n = 338; parents/caregivers of children, n = 293) with PKU completed the questionnaire. Problems experienced by children with PKU were: difficulty with maintaining focus (48%, n = 114/236), educational difficulties (28%, n = 67/236), anxiety or depression (29%, n = 68/236), and gastrointestinal symptoms (34%, n = 97/282). Fifty one per cent (n = 120/236) described social exclusion; 17% (n = 41/236) had relationship issues with friends or family. Problems experienced by adults were: depression or anxiety (52%, n = 148/286), difficulty maintaining focus (54%, n = 154/286), and low mood (54%, n = 180/334). Difficulties were experienced with relationships (34%, n = 96/286); social exclusion (44%, n = 126/286); and gastrointestinal issues (n = 34%, n = 112/334). Common medications used included antidepressants (40%, n = 131/331) and anxiolytics (18%, n = 60/334). DISCUSSIONS: Adults with PKU or caregivers/parents of children identified significant neurocognitive, mental health and general health issues. Limits on socialisation, perception of social isolation and dietary stigma are major obstacles which are difficult to overcome with conventional dietary management.