Fabry Disease Patient Journey

Maya Kineen, a Fabry disease patient and advocate, provides a patient's perspective of her journey with this rare disorder.

Fabry disease an X-linked 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 life-threatening complications such as progressive kidney damage, heart attack, and stroke.