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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 Kristi, who is a carrier of Barth syndrome. She is a Mississippi resident, wife, and mother to two boys, one them with Barth syndrome. I also have a nephew and a first cousin living with Barth syndrome.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
