Date of Award
Open Access Thesis
Purpose: This project was conducted in order to assess how parents of a child affected by CYP21A2-related classic CAH experienced receiving genetic information, The goal was to determine their knowledge of the genetics of the condition and how that knowledge has affected different aspects of their lives such as emotional well-being. Methods: Parents of a child with classic CAH diagnosed in the past 10 years were invited to participate in an online survey via an advertisement posted in the support group, Major Aspects of Growth in Children. Survey questions consisted of demographic information, experience with the diagnostic process, knowledge of genetics, and openended questions. At the conclusion of the online survey, participants were invited to provide their email address if they wished to participate in a follow up interview. The semi-structured interview allowed parents to expound on their experiences with receiving genetic information and the impact it had on different aspects of their life. Results: Twenty-two parents completed the online survey and four completed follow-up interviews. Four major themes regarding the diagnostic process were identified: genetic counseling, distress and information overload at diagnosis, use of information to obtain knowledge, and online support.Conclusion:These results indicate involvement of a genetic counselor during the diagnostic process was lacking, however, when participants had received genetic counseling, understanding their test result and inheritance of CAH, as well as the empathy shown by the counselor were the most important benefits. They also suggest parent’s experience a significant amount of distress regarding their child’s diagnosis and identifies resources find useful for information and support. Genetic counselors can provide targeted, directed, and appropriate psychosocial and geneticsfocused care for families. Involvement of a genetic counselor in the diagnostic process for CAH may lead to increased understanding of the genetics of CAH and decreased distress during the diagnostic process. Genetic counselors should work with pediatric endocrinologists to ensure that newly diagnosed parents are referred to genetics.
Maccia, C.(2020). Experiences With and Knowledge of Genetics in Families Affected by Congenital Adrenal Hyperplasia: The Parent Perspective. (Master's thesis). Retrieved from https://scholarcommons.sc.edu/etd/5719