- A new therapy is being administered into the abdomens of pregnant mothers, and it may save their babies' lives.
- One baby who received 6 protein injections before birth is crawling, laughing, and developing normally.
Sobia Qureshi lost two of her baby girls to heart disease, one at eight months old, and the other at two and a half.
So when Qureshi learned that she was pregnant again, and her fetus tested positive for the same debilitating genetic condition that had killed two of her children already, she knew she wanted to try something different.
She became the first person to try out a fetal therapy for the rare disorder, called Pompe Disease, receiving six injections of enzymes through her abdomen into an umbilical vein while she was pregnant.
The injections, called enzyme replacement therapy, provided her developing fetus with a crucial protein it was missing, which breaks down complex sugars in the body. Without that enzyme, people's muscles can't develop properly, making it difficult to build muscles, eat, or even breathe sometimes. Left untreated, most children born with Pompe will die before the age of 2.
Today, Qureshi daughter Ayla is 16 months old, and she's giggling, crawling, and developing normally, thanks to a first-of-its-kind treatment, which was reported Wednesday in the New England Journal of Medicine.
Infusions before birth have helped Ayla develop normally
"She's a miracle," Ayla's dad, Zahid Bashir, said in a pre-recorded interview with UCSF. "When we were having Ayla, 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."
She is doing all of those things and more, with a healthy heart, and good reflexes.
Dr. Tippi MacKenzie, a pediatric and fetal surgeon at UCSF who shared the protocol for Ayla's groundbreaking therapy with the toddler's doctors in Canada, said she's "thrilled with this outcome."
Already, one other expectant mother has received a similar investigational therapy for her son, who's less than a month old and was diagnosed with Hunter Syndrome in utero.
"I'm hoping that these procedures and the enzyme replacement allows my son to say 'mama' and 'dada'," said Mya Queen, whose brother also has Hunter, and cannot verbalize.
These fetal enzyme treatments are not a promise of a completely normal life.
Ayla still has to visit the hospital every week for a six-hour-long administration of her own enzyme infusions, and it's possible that she could develop resistance to her treatment over time. (That's what happened to one of her deceased sisters.)
But doctors are hopeful that by receiving her first treatments as a fetus in utero, Ayla's still-developing brain may have derived unique benefits she wouldn't have gotten if she started the regimen later. Those benefits could potentially slow or even prevent some aspects of the disease progression, which would have been irreversible after birth.
"This is a really exciting advance for patients to know that in-utero therapy can be a viable treatment option," Dr. Manisha Balwani, chief of the division of medical genetics at Mount Sinai, who was not involved in this research, told Insider.
For Ayla's parents, it's a life-changing advance — though it is impossible to know how long it might last.
"I don't like to think about the future, because any time you go there it's scary," Qureshi said in the pre-recorded interview. "We know that she's going to be treated for life. What life looks like, we don't know. And I don't think anybody can say at this point what it's going to look like, what the prognosis is."