PRO52 A qualitative study on the impact of caring for an individual with aromatic l-amino acid decarboxylase deficiency (AADCd)

Abstract

Aromatic l-amino acid decarboxylase deficiency (AADCd) is a rare neurological condition. Individuals with AADCd require 24-hour care and are reliant on their caregivers for all aspects of their daily lives, but little is known about the caregiver experience. This study explored the impact of caring for an individual with AADCd. Qualitative interviews were conducted with caregivers of individuals with AADCd in Italy, Portugal, Spain and the United States. An interview guide was developed with input from clinical experts, and caregivers of individuals with the condition, and included open-ended questions to elicit information on the impact of caring for an individual with AADCd. Interviews were conducted by telephone and were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. Twelve interviews were conducted with caregivers of individuals with AADCd aged 1-15 years (including parents and other family members). Caregivers described how their lives were centred around the individual with AADCd, because of their need for constant one-on-one care (e.g. with feeding, washing and dressing) and having to attend regular healthcare appointments. Most caregivers reported having little time to themselves (e.g. for exercise, or even to shower) and this impacted their ability to carry out household tasks, go to work and attend social events. Several participants described how being a caregiver had a substantial impact on their emotional wellbeing, with some reporting depression, anxiety and fear for the future. Impacts on physical health (e.g. back pain and sleep) were also reported. These concepts and relationships were illustrated in a conceptual model on the impact of caring for an individual with AADCd. Caring for an individual with AADCd has a substantial multifaceted impact on the lives of caregivers. These findings highlight the importance of considering the caregiver experience when evaluating the burden of AADCd.