Activated PI3K delta syndrome (APDS) is a rare primary immunodeficiency disease (PID) characterized in 2013. Caregivers of children with APDS juggle management of complex medical needs with family and work responsibilities. When their child gets sick, the balance is lost. Understanding the needs of caregivers and children living with APDS is important to help ensure resources and support needed are available.
Six caregivers of children ages 3–9 living with APDS participated in a virtual advisory board meeting in 2025. The meeting included polls, a chatroom, and pre-meeting questions.
Caregivers reported their children experienced a broad-spectrum of APDS symptoms, with a combined total of 28 different symptoms. Recurrent infections were mostly commonly reported as impacting family life. Patients struggled with developmental delays; the most noted was speech delay (3). Four caregivers reported behavioral issues when their children experienced APDS symptoms of fatigue, illness, and speech/communication challenges. Issues included irritability (4), self-harm (2), and hitting other children (1). Two were on intravenous immunoglobulin (IVIG) treatment, and parents noted increased irritability and behavior issues when the child was due for treatment. Caregivers were concerned about their children missing social interactions and social connections. For many, fatigue was a limiting factor in children’s participation in social activities. Two caregivers reported frequent school absences; one child missed 65 school days. Missed work was a top challenge for some (3), while others had flexible work schedules that better accommodated frequent appointments and illness. Caregivers felt they needed to be available “constantly” and “immediately” for when their child got sick. Caregivers ranked worry as a top challenge as well. The constant worry their child will get sick, the stress of managing care, and the day-to-day responsibilities of caring for a child with APDS weigh heavily on caregivers.
Parents of children with APDS need information/support targeted at early intervention to help address speech delays, social-emotional needs, and behavioral issues. The needed resources and support identified were educational materials for children with APDS, opportunities for connection to other caregivers, and information about Family and Medical Leave Act (FMLA) and other legal protections for caregivers and their children.
