Episode 30: Fabry Disease with Taylor Hoffman

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 Fabry disease. Fabry Disease is a rare X-linked genetic disorder caused by a mutation in the gene GLA that impairs the efficient breakdown of fatty acids, or lipids in the cell. This mutation on the X chromosome results in the buildup of fat in the body’s cells, causing issues in the kidney, heart, and nervous system. Females tend to have a variable course of Fabry disease with some experiencing severe symptoms while others experience less severe symptoms than males or none at all (NORD).  However, recent research has determined that the most common symptoms in females affected by Fabry disease are neuropathic pain, angiokeratoma (a type of skin finding), proteinuria (high levels of protein in urine), buildup in the cornea of the eyes, and cardiac disease. Additionally, 10% of females experience renal failure and need dialysis. Today, we are bringing on Taylor Hoffman to share her story with Fabry disease. Taylor is a 17-year-old rare disease advocate who is passionate about raising awareness of the impacts of Fabry disease on female patients. She is looking forward to being part of clinical trials for Fabry disease in the future. Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.