OBJECTIVES: AADC deficiency a rare disorder with an estimated global prevalence of 1:90,000 in the US and 1:116,000 in EU. Many individuals are severely delayed in reaching developmental milestones and require substantial lifelong care. This is an updated analysis of a study that explored the experience of caring for an individual with AADC deficiency.

METHODS: A questionnaire was developed with questions about the individual with AADC deficiency, time spent caring, paid and/or unpaid help received by partner or health care professionals and impact on work. After informed consent, questionnaires were completed by primary caregivers of individuals with AADC deficiency ahead of a qualitative interview.

RESULTS: The final sample included 14 caregivers (including two parents of the same individual), who completed the questionnaire (mean age 44 years; range: 35y-55y). The primary caregiver reported spending an average of 109 hours (range: 66h-166h) per week on care including practical, emotional care and administrative tasks such as scheduling and attending physician appointments. 50% (N=7/14) of caregivers received unpaid support, which was mainly provided by their partner (mean 37 hours; range: 8h-93h per week); 23% (N=3/13) received paid support from a nurse or trained nursing assistant (mean 27 hours; range: 10h-35h per week). Overall, 43% (N=6/14) of the primary caregivers reported that they stopped working and 29% (N=4/14) reported having reduced their working hours, including both of the two parents of the same individual. An additional 14% (N=2/14) reported that their partners also reduced their working hours.

CONCLUSIONS: The data shows that caregivers spent almost every waking moment caring for the individual with AADC deficiency, including help/support by partners and requiring most to reduce their working hours or to even stop working. These findings highlight the importance of considering the impact this disease has on caregivers and families when evaluating the burden of disease.