Rare, deadly genetic disease successfully treated in utero for first time – CTV

Nov. 10, 2022

A Canadian toddler is being celebrated in the scientific world as the first treated in utero for a genetic disease that would have quickly killed her.

“She’s our little miracle baby, and she’s showed us that (the treatment) does work,” said Sobia Qureshi, mother of 16-month-old Ayla.

Ayla, who lives in Ottawa with her parents Zahid Bashir and Sobia, underwent an experimental treatment in 2021, while still a fetus, after prenatal tests showed she had Pompe disease.

It’s an inherited and usually fatal disorder that ended the lives of two of her sisters. Ayla, however, is not only surviving, she is also thriving, according to her family and doctors, detailed in a New England Journal of Medicine study describing her case as the world’s first in-utero treatment for the disease.

Read more: https://www.ctvnews.ca/health/rare-deadly-genetic-disease-successfully-treated-in-utero-for-first-time-1.6146283

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