A child with Pompe disease was the first to start treatments before birth.
In a first, doctors began treating a child's rare genetic disorder before she was born. The child, who is now 16 months old, will still require treatment for the rest of her life, but starting her therapy early meant she was born without overt signs of the disorder and with the chance of a better prognosis.
The child, Ayla Bashir, was born in Ottawa, Ontario, and her parents, Sobia Qureshi and Zahid Bashir, said she's happy and meeting her developmental milestones."She's just a regular little 1½-year-old who keeps us on our toes," Zahid Bashir, her father, told The Associated Press . Some people with a less-severe form of Pompe disease develop symptoms later in life, according to the National Institute of Neurological Disorders and Stroke , but Ayla has infantile-onset Pompe disease, which typically starts in the womb. Ayla was diagnosed during a prenatal screening for chromosomal and other genetic abnormalities.
So Dr. Tippi MacKenzie , a fetal and pediatric surgeon at UCSF Benioff Children's Hospitals, launched a clinical trial in which doctors will start treating Pompe disease and similar disorders before birth, in order to prevent serious organ damage.
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