Transition to self-management: Perspectives and experiences of glycogen storage disease type I and type III patients and their parents

Transition is a multifaceted and critical process for patients with genetic and other chronic conditions to achieve self-efficacy and optimal management of their condition. Patients ages 13 to 30 with type I or type III glycogen storage disease (GSD) and their parents were invited to participate in a study that explored the experiences of patients with glycogen storage disease and their parents regarding the transition to self-management in adulthood. Parent-child matched pairs were examined regarding the patient's progress, interactions with genetic counselors, and themes surrounding the transition process. An online survey was utilized to collect statistical data, and follow-up telephone interviews gathered more qualitative data. Nineteen patients and 15 parents completed the online survey with 15 patient surveys and 13 parent surveys eligible to be included in analysis. Nine patients and nine parents also completed the follow-up telephone interview. The majority of patients (86.6%) and parents (53.9%) considered the child in charge of their own health care usually or always, but two thirds of patients reported they still have to be reminded about daily management tasks. Seven parent-child matched pairs indicated disagreement between the parent and child about how often the patient is considered in charge of their health and how frequently they had to be reminded about self-care tasks. Few participants reported having met with a genetic counselor and only three patients reported that the counselor had addressed issues related to transition. The telephone interviews identified challenges patients face during transition and suggestions for health care providers. It appears that there are a number of challenges that adolescents with GSD face and a need for genetic counselors to be more involved in guiding families through the transition process. Genetic counselors are trained to be attentive to the psychosocial needs of patients and their skills make them an excellent support and advocate for their adolescent and young adult patients.