A toddler is thriving after doctors used a novel technique to treat her before she was born for a rare genetic disease
In this photo provided by the Children's Hospital of Eastern Ontario, Ayla Bashir sits with her mother, Sobia Qureshi, during a physical therapy assessment for Ayla at CHEO in Ottawa on Aug. 23, 2022. The toddler is the first child treated as fetus for Pompe disease, an inherited and fatal disorder in which the body fails to make some or all of a crucial protein. A toddler is thriving after doctors in the U.S.
“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. The treatment could be “potentially very significant,” said Dr. Brendan Lanpher, a medical geneticist at the Mayo Clinic in Rochester, Minn., who was not involved in the research.
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