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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.
This month, 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 bringing on Kelsey, a 33-year-old pediatric nurse. She has been married to her husband AJ for ten years. They have two littles boys, Henry who is in heaven, and Wally who will be six in December. When she's not chasing after their very outgoing and social little boy, she loves to read and spend time with her family.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
