a A little girl is thriving after doctors in the United States and Canada used a new technique to treat her before she was born with a rare genetic disease that killed two of her sisters.
16-month-old Ayla Bashir from Ottawa, Ontario, is the first baby to be treated as a fetus for Pompe disease, a genetic and often fatal disorder in which the body fails to produce some or all of an important protein.
Today, she is an energetic and happy girl who has achieved her growth stages, according to her father, Zahid Bashir, and her mother, Sobia Qureshi.
“She’s just a normal half-year-old and keeps us sober,” Bashir said. The couple previously lost two daughters, Zara, two and a half, and Sarah, 8 months, to illness. The third pregnancy was terminated due to the disorder.
in 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 expands the field of potential fetal therapies. Ayla’s outlook is promising but uncertain.
Dr Karen Fong Ki Fung, a maternal-fetal medicine specialist at the Ottawa Hospital who provided the treatment and delivered Ayla, said.
Fong Ke Fong was following a new treatment plan developed by Dr. Tippi Mackenzie, pediatric surgeon and co-director of the Maternal and Fetal Precision Medicine Center at the University of California, San Francisco, who was involved in her post-pandemic research. Ayla’s mother was prevented from traveling to receive care.
“We were all excited to make this happen to this family,” MacKenzie said.
Doctors have treated fetuses before birth for three decades, often with surgeries to repair birth defects such as spina bifida. And they transfused blood to the fetuses through the umbilical cord, but not drugs. In this case, the essential enzymes are inserted through a needle that is inserted through the mother’s abdomen and directed into a vein in the umbilical cord. Ayla received six infusions every two weeks starting at about 24 weeks into the pregnancy.
“The innovation here wasn’t the drug and it wasn’t getting into the fetal circulation,” said Dr. Pranesh Chakraborty, a metabolic geneticist at Children’s Hospital of Eastern Ontario who has taken care of Ayla’s family for years. “The innovation was to treat early and treat while in the womb.”
The unusual partnership also included experts at Duke University in Durham, North Carolina, who led research on Pompe disease, and the University of Washington in Seattle.
Babies with Pompe disease soon after birth are often treated with replacement enzymes to slow the devastating effects of the condition, which affects less than 1 in 100,000 newborns. It is caused by mutations in the gene that makes an enzyme that breaks down glycogen, or sugar stored in cells. When this enzyme is reduced or eliminated, glycogen builds up dangerously throughout the body.
In addition, the most affected children, including Ayla, have an immune condition in which their bodies block the injected enzymes, eventually causing the treatment to stop working. The hope is that early treatment of Ayla will reduce the severity of the immune response.
Babies with Pompe disease often have feeding problems, muscle weakness, drooping, and often dramatically enlarged hearts. If not treated, most die from heart or breathing problems in the first year of life.
In late 2020, Bashir and Qureshi learned that they were expecting Ayla and that prenatal tests showed that she also had Pompe disease.
“It was very scary,” Qureshi recalls. In addition to the girls who died, the couple had a son Hamza, 13, and a daughter, Maha, 5, who were unaffected.
Both parents carry a recessive gene for Pompe disease, which means there is a one in four chance that the child will inherit the condition. Al-Bashir said the decision to initiate the additional pregnancy was motivated by their Islamic faith.
“We believe that what comes our way is part of what it means or what is destined for us,” he said. They said they had no plans for more children.
Chakraborty had learned of McKenzie’s early stage trial of enzyme therapy and thought early treatment might be a solution for the family.
Dr. Brendan Lanfer, a medical geneticist at the Mayo Clinic in Rochester, Minn., who was not involved in the research, said the treatment could be “very important.”
“This is a progressive disease that builds up over time, so every day the fetus or child gets infected, they accumulate more substances that affect muscle cells.”
It’s still too early to tell if the protocol will become an acceptable treatment, said Dr. Christina Lamm, interim medical director of biochemical genetics at the University of Washington and Seattle Children’s Hospital in Seattle.
“It’s going to take some time until you’re really able to establish the evidence that conclusively shows that the results are better,” she said.
Her mother said that Ayla receives drugs to suppress her immune system and weekly enzyme injections that take five to six hours — an increasing challenge for a wobbly toddler. Unless a new treatment emerges, Ayla can expect the injections to continue for life. It’s developing normally – for now. Her parents say every event counts, like when she started crawling, especially precious.
“It is surreal. It amazes us every time,” Qureshi said. “We are very lucky. We were very, very blessed.”
More election coverage from TIME