Date of Award


Document Type

Open Access Thesis


Genetic Counseling


School of Medicine

First Advisor

Janice G. Edwards


The complex roles and experiences of grandparents of children with various diagnoses have been described, but previous studies have not investigated the roles and experiences of grandparents of children with treatable, Mendelian conditions such as Pompe disease. The availability of treatment and heritable nature of Pompe introduce the possibility for unique grandparent roles, experiences and needs. This is a particularly timely investigation given the advent of newborn screening for Pompe. This study aimed to characterize grandparents’ roles and involvement, identify grandparents’ information and emotional support needs, and explore the psychosocial impact felt by grandparents of children with Pompe. An online questionnaire containing forced choice and open-ended questions was distributed through various Pompe disease organizations. Quantitative data and qualitative data were analyzed with descriptive statistics, statistical measures, and thematic analysis. Twenty-one grandparents of children diagnosed with Pompe before the age of 18 participated. Grandparents provided emotional support significantly more frequently than financial support (p = 0.011), long-term child care (p < 0.0005), medical assistance (p < 0.0005), and running errands (p = 0.002). Grandparents were satisfied with their grandchild’s parents serving as primary sources of information and emotional support. Grandparents most valued information about treatment. Most participants learned about the genetics of Pompe (n = 16) and comprehended the genetic etiology (n = 15). While grandchildren’s parents (n =18), Internet resources (n =15), and religion (n = 12) were common sources of emotional support, family and religion were most important. Psychosocial impacts included altered travel and employment plans, frustration with the diagnosis, heightened awareness of grandchildren’s limitations and medical needs, and the experience of double-grief. Though grandparents are large sources of emotional and practical support for families of children diagnosed with Pompe, they need considerable support themselves. However, specific resources for grandparents beyond their grandchild’s parents are limited. Given the complex family system in which patients reside, these results warrant consideration of the unique support needs of extended family members surrounding the diagnosis of a genetic condition and facilitation of familial communication of complex medical information.