A Canadian toddler is "thriving" after doctors treated her deadly genetic disease before she was even born.
Ayla Bashir, a 16-month-old from Ottawa, Ontario, has infantile-onset Pompe disease, meaning her body can't make some or all of a crucial protein. The rare condition can cause organ damage that begins before birth.
Babies born with Pompe have an enlarged heart and weak muscles. If left untreated, most die from heart or breathing problems before they turn one year old.
Ayla's father, Zahid Bashir, and mother, Sobia Qureshi, said after getting treatment, their daughter is meeting all her development milestones.
"She's just a regular little one-and-a-half-year-old who keeps us on our toes," Bashir told the Associated Press.
Two of Ayla's sisters died from the hereditary disorder when they were two-and-a-half years old and eight months old.
By the time babies with Pompe are born, some of the damage to the heart and the rest of the body is already done. So to try and prevent that, Ayla received six rounds of enzyme treatment replacement therapy while in the womb.
A case study of her treatment was published in the New England Journal of Medicine earlier this week.
Doctors injected Qureshi in the abdomen with crucial enzymes that were then guided into a vein in the umbilical cord. Ayla had six rounds of this treatment before she was born.
Although Ayla was monitored throughout the pregnancy and all signs pointed to the treatments working, the specialists involved in the ground-breaking case were anxious to see the results for themselves.
"I was not missing this child's birth. I wanted to see her with my own eyes," Dr Karen Fung-Kee-Fung, the family's maternal-fetal medicine specialist, told the Ottawa Citizen.
"She was a normal newborn. She was crying, she was pink and she was juicy. She was lovely."
After losing two children to Pompe disease, Qureshi said they were ecstatic Ayla had arrived and was developing regularly.
"It was just a relief to have her in our arms and know she was okay," she said.
Ayla's outlook is promising but uncertain. She has to get weekly enzyme infusions that take five to six hours each time and may need to get these for the rest of her life. But Bashir said they continue to be "amazed at her progress".
"We didn't know if she'd be able to walk. We didn't know if she'd be able to talk. We didn't know if she'd be able to eat. We didn't know if she'd be able to laugh."
Qureshi added each time Ayla hits a new developmental milestone is surreal and she's "thriving".
"We're so blessed. We've been very, very blessed."