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.
“She’s just a regular little 1½-year-old who keeps us on our toes,” Bashir said. The couple previously lost two daughters, Zara, 2½, and Sara, 8 months, to the disease. A third pregnancy was terminated because of the disorder.in the New England Journal of Medicine, doctors describe an international collaboration during the COVID-19 pandemic that led to the treatment that may have saved Ayla’s life – and expanded the field of potential fetal therapies.
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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In a first, doctors treat fatal genetic disease before birthA toddler is thriving after doctors used a novel technique to treat her before she was born for a rare genetic disease
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Doctors make history using novel technique to treat fatal genetic disease before birthThe girl, now 16 months, began receiving the critical protein her body can't make while still in the womb. The treatment was delivered through a needle inserted through the mother’s abdomen and guided into a vein in the umbilical cord. The disease killed two of the girl's sisters before they turned 3.
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