Ava W.

Ava is 7 years old and has Fabry disease. She was diagnosed when she was 2 years old, and her symptoms currently are heat intolerance, pain in feet, and anxiety. She is a very strong-willed little girl. Ava loves drawing, painting, and going to the park or the beach.

~Katie, Ava’s Mom

Fabry Disease

Fabry disease is a rare genetic disorder caused by a defective GLA gene. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown of a lipid in the body called globotriaosylceramide (abbreviated as GL-3 or GB-3). When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. Progressive lipid accumulation leads to cell damage which causes a range of mild to severe symptoms, including potentially life-threatening consequences such as kidney failure, heart attacks, and strokes, often occurring at a relatively early age. Fabry disease can affect males and females of all ethnic and cultural backgrounds.

Artist: Jota Leal