Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.
In the month of September, we are featuring Barth syndrome. Barth syndrome is an X-linked disorder characterized by symptoms that include the enlargement and weakening of the heart, skeletal muscle abnormalities, short stature, and recurrent infections. This syndrome is the result of a mutation in the gene, TAFAZZIN, which normally functions to encode a protein involved in remodeling cardiolipin. Female carriers typically do not experience symptoms associated with Barth syndrome.
Today, we are joined by Rebecca (Becky) McClellan, MGC, CGC. Becky is a board-certified genetic counselor who splits her time between the Neurogenetics-Metabolism Clinic at Kennedy Krieger Institute and the Johns Hopkins Center for Inherited Heart Diseases. For more than 20 years at she has supported patients and families with a wide spectrum of neurodevelopmental disabilities at Kennedy Krieger Institute and has specialized in mitochondrial and other rare metabolic conditions. Rebecca also actively works to enhance family support resources by working closely with organizations such as the Barth Syndrome Foundation and SADS Foundation, and serves on the medical advisory board of Remember the Girls a support organization focused on carrier issues, and the Timothy Syndrome Foundation.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
