A toddler is thriving after doctors in the U.S. and Canada used a new technique to treat her before she was born for a rare genetic disease
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. The unusual partnership also involved experts at Duke University in Durham, N.C., which has led research on Pompe disease, and University of Washington in Seattle.
In late 2020, Bashir and Qureshi had learned they were expecting Ayla and that prenatal tests showed she, too, had Pompe disease. Chakraborty had learned of MacKenzie’s early stage trial to test the enzyme therapy and thought early treatment might be a solution for the family.
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