The couple had previously lost two daughters, 2.5-year-old Zara and 8-month-old Sara, to the condition. The third pregnancy is terminated due to disease or disorder.
Ayla’s future is promising but uncertain.
Dr. Karen Fung-Kee-Fung is a fetal medicine specialist at The Ottawa Hospital. She treats Ella. The new method was developed by Dr. Tippi MacKenzie, co-director of the Center for Maternal-Fetal Precision Medicine at UCSF.
MacKenzie shared her research with Fung-Kee-Fung. "We are all motivated to make this happen for this family," McKenzie said.
In this case, doctors deliver important enzymes to the mother through her stomach. The enzyme is then introduced into the umbilical cord. Ella received six treatments every two weeks, starting at about 24 weeks of fetal development.
Dr. Pranesh Chakraborty has been caring for Ayla's family for over years. He told the media that what makes the treatment very effective is that it is done early, while the fetus is still developing.
Pompe affects less than 1 in 100,000 births. It is caused by changes in a gene that produces an enzyme that breaks down glycogen, or stored sugar, in cells. When this enzyme is reduced or removed, glycogen can dangerously accumulate throughout the body.
Additionally, the most severely affected babies, including Ayla, have a immune condition in which their bodies block the treating enzyme. This will eventually cause the treatment to stop working. The hope is that early treatment of Ayla will reduce this immune response.
Babies with Pompe disease have difficulty feeding and have muscle weakness. They usually have very large hearts. If left untreated, most babies will die from heart or breathing problems in their first year of life. In addition to the girl who was killed, Ella's parents also had a 13-year-old son and a 5-year-old daughter. None of these children were affected by the disease.
For now, doctors are waiting to see whether this therapy can become a generally accepted treatment. Dr. Christina Lam is a specialist in biochemical genetics at the University of Washington and Seattle Children's Hospital in Seattle. It will take some time to clearly demonstrate whether the outcomes of the new treatment are better for patients, she said.
Ayla receives immune system medications and enzyme treatments that require five to six hours a week. Unless a new approach is found, Ayla will likely continue to receive treatment for the rest of her life.
Her parents say every step forward, like when she starts crawling, is special.
"It surprises us every time," said her mother, Sobia Qureshi. "We've been so lucky. We've been very, very lucky."
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