Date of Award

2018

Document Type

Open Access Dissertation

Department

Genetic Counseling

Sub-Department

School of Medicine

First Advisor

Janice Edwards

Abstract

Duchenne and Becker muscular dystrophy (DBMD) are X-linked conditions due to mutations within the dystrophin gene that cause progressive muscle weakness, respiratory insufficiency, and cardiomyopathy in affected males. Approximately twothirds of women who have a son with DBMD are carriers of the condition. Carriers typically do not manifest muscular symptoms but are at risk for cardiac abnormalities such as dilated cardiomyopathies. The American Academy of Pediatrics (AAP) recommends that carriers of DBMD receive a complete cardiac evaluation by a cardiologist that includes an echocardiogram and electrocardiogram (EKG) with reevaluation every five years. According to a recent study33, as many as 35.6% of carriers are not adhering to the AAP recommendations despite having knowledge of their carrier status. Limited research has been conducted into the barriers that carriers face in accessing recommended cardiac screening. We surveyed 60 carriers of DBMD and conducted semi-structured telephone interviews with 11 carriers who in the last five years either had not seen a cardiologist, had an echocardiogram, or had an EKG to determine the perceived challenges that carriers face in obtaining appropriate cardiac care. From the interviews, seven major themes emerged: 1) a lack of awareness among healthcare providers about cardiac risks 2) a responsibility among carriers for self-education and self-advocacy 3) frustration with misinformation received 4) a lack of concern due to lack of family history and/or a perceived healthy lifestyle 5) a lack of information-sharing with other carriers in the family 6) a priority of the healthcare needs of family members over personal healthcare needs and 7) a belief that conversations about carrier status should begin at a younger age. Increased awareness, health education regarding risks for carriers, and advocacy efforts are needed for healthcare providers and carriers in order to ensure that this entire population receives the cardiac care they need

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