Background: Limited research exists on how having a child with achondroplasia impacts parents' daily lives and well-being. The purpose of the study was to gather qualitative evidence to support the development of a parent experience measure that assess the impacts of having a child aged 2 to <12 years with achondroplasia.
Methods: Concept elicitation interviews via individual telephone calls and an in-person focus group were conducted with parents of children with achondroplasia (aged 2 to <12 years) in the United States (US) and Spain using a semi-structured interview guide to elicit parents' experiences. Based on an adapted grounded theory approach, interview transcripts were analyzed to identify important themes and impacts for the development of a validation-ready parent experience measure.
Results: Thirty-six parents (n=31 mothers; n=5 fathers) of children with achondroplasia participated in individual interviews or the focus group (Spain, n=11; US, n=25), including seven parents with achondroplasia. Analyses identified four key domains relevant to the daily lives and well-being of parents of children with achondroplasia, including emotional well-being, caretaking responsibilities, family life, and work. In the parent emotional well-being domain, the most frequent impacts were worry about child's future (75%, n=27), worry about child's physical health (67%, n=24), concerns about child's safety (50%, n=18), feeling stressed/overwhelmed (44%, n=16), worry about child's social well-being (42%, n=15), and worry about child functioning independently (33%, n=12). For caretaking responsibilities, the most frequent impacts were managing child's medical care (e.g., appointments, treatment decisions; 92%, n=33), helping child with self-care (e.g., toileting, bathing, dressing; 67%, n=24), advocating for child (e.g., for school accommodations; 64%, n=23), providing assistance to child (e.g., reaching objects; 56%, n=20), monitoring child (e.g., to ensure safety or monitor health conditions; 47%, n=17), and providing support or guidance for child regarding living with or managing achondroplasia (47%, n=17). For the family life domain, the most frequent impacts included family strain (56%, n=20), family vacations/travel (53%, n=19), and family activities (42%, n=15). In the work domain, the most frequent impact was missed work time (e.g., for doctor appointments; 50%, n=18).
Conclusion: The findings provide evidence for content validity of the parent experience measure for parents of children with achondroplasia aged 2 to <12 years. To fully evaluate the value of new treatments for achondroplasia, it is important to understand and assess impacts on parents' daily lives and well-being, which may be lessened following children's treatment.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology