In a first, doctors treat fatal genetic disease before birth
A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.
“It holds a glimmer of hope for being able to treat them in utero instead of waiting until damage is already well-established,” said Dr. Karen Fung-Kee-Fung, a maternal-fetal medicine specialist at The Ottawa Hospital who gave the treatment and delivered Ayla. Babies with Pompe disease are often treated soon after birth with replacement enzymes to slow devastating effects of the condition, which affects fewer than 1 in 100,000 newborns. It is caused by mutations in a gene that makes an enzyme that breaks down glycogen, or stored sugar, in cells. When that enzyme is reduced or eliminated, glycogen builds up dangerously throughout the body.
“It was very, very scary,” recalled Qureshi. In addition to the girls who died, the couple have a son, Hamza, 13, and a daughter, Maha, 5, who are not affected.
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