Ayla Bashir, a 16-month-old from Ottawa, Ontario, is the first child treated as fetus for Pompe disease, an inherited and often fatal disorder in which the body fails to make some or all of a crucial protein.
Today, she’s an active, happy girl who has met her developmental milestones, according to her father, Zahid Bashir and mother, Sobia Qureshi.
“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 a case study published Wednesday 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 outlook for Ayla is promising but uncertain.
"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.
Fung-Kee-Fung was following a new treatment plan developed by Dr. Tippi MacKenzie, a pediatric surgeon and co-director of the Center for Maternal-Fetal Precision Medicine at the University of California, San Francisco, who shared her research after the pandemic prevented Ayla’s mother from traveling for care.
“We were all motivated to make this happen for this family,” MacKenzie said.
この記事は Techlife News の November 12, 2022 版に掲載されています。
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この記事は Techlife News の November 12, 2022 版に掲載されています。
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