OBJECTIVES: Aromatic l-amino acid decarboxylase deficiency (AADCd) is an ultra-rare disorder with an estimated global prevalence of 1:32,000 to 1:148,000. Many individuals are severely delayed in reaching developmental milestones (e.g. walking and talking), and require substantial lifelong care. This study explored the experience of caring for an individual with AADCd.

METHODS: A questionnaire was developed with questions about the individual with AADCd, interactions with healthcare professionals, time spent caring, paid/unpaid help and impact on work. Questionnaires were completed by primary caregivers of individuals with AADCd who had consented to take part in a qualitative interview.

RESULTS: Twelve caregivers completed the questionnaire (10 parents, 1 brother, 1 aunt; mean age 44 years). Participants reported seeing a mean of 8 (1-24) clinicians/experts before diagnosis. Mean time from first symptom to seeking medical care was 2.5 months, and from seeking medical care to final diagnosis 16.5 months (total mean 19 months). Caregivers spent an average of 90 hours (56-140h) per week on practical and emotional care for their child, plus a mean of 15 hours (7-33h) per week on administrative tasks such planning activities or travelling to/attending appointments related to their child AADC deficiency. 55% received paid and/or unpaid help with care. Unpaid support was provided mainly by the partner (mean 37 hours (8-93 h) per week); while paid support was provided by a registered nurse or training nursing assistant (mean 27 hours (10-35 h) per week). The latter was paid out of pocket or provided by the national service. 75% of caregivers reported that they stopped working or reduced their working hours.

CONCLUSIONS: Caregivers spent almost every waking moment caring for the individual with AADCd, requiring most to stop working or reduce their working hours. These findings highlight the importance of considering the caregiver impact when evaluating the burden of disease.