An Interpretative Phenomenological Study Exploring the Lived Experiences of Mothers of Children With Kleefstra Syndrome

Caregiving is a stressful obligation and has been considered hazardous to the well-being of the caregiver. Add the complexity of caring for a child with a rare genetic disease, like Kleefstra syndrome (KS), and the risk for burnout increases significantly. This purpose of this interpretative phenomenological study was to understand the experiences of mothers and surface insights into factors contributing to or mitigating stress. The theoretical frameworks that guided the study were the informal caregiving integrative model (ICIM) and the sense of coherence theory (SOC); both were relevant when attempting to determine what aspects of parenting are contributing to or mitigating the pathological stress observed in parents of children with KS. For the study, mothers of adult children with KS were selected using purposeful sampling. Data was collected through virtual semi-structured interviews, cognitive representations, and document review. The research questions for the study were: How do mothers of adult children with Kleefstra syndrome describe their lived experiences? How do mothers of adult children with Kleefstra syndrome describe the care needs of their child? How do mothers of adult children with Kleefstra syndrome describe the factors that have enabled them to cope with these complexities? An interpretative phenomenological analysis approach revealed three group themes, which described the connectivity between the participants, including No Breaks—Striving for the Best Under the Cloud of the Unknown; Harmonizing Life—Managing Caregiving Demands and Available Resources to Maintain Well-Being; and Finding Balance—Adapting, Coping, and Finding the Joy. Each group theme had supporting subthemes.