Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, discusses the benefits and drawbacks of screening newborns for Fabry disease.
Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include 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.
As Ms. Laney explains, there are a number of benefits of screening newborns for Fabry disease and many states are currently doing this. However, she also acknowledges that, while screening for Fabry is beneficial for the newborn and their families, there is still debate around when treatment for the disease ought to begin.
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