In this episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder.

Fabry disease an Xlinked genetic disorder that leads to the buildup of globotriaosylceramide in the body’s cells.

Common features of Fabry disease include episodes of pain (acroparesthesias), angiokeratomas, hypohidrosis; corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially lifethreatening complications such as progressive kidney damage, heart attack, and stroke.