Sep. 6, 2013 at 10:02 AM ET
Expectant parents Jaime Herrera Beutler and her husband, Daniel, got the devastating news during Jaime's second trimester, when they went in for what they thought would be a routine ultrasound.
That's when their doctor told them that the child they were expecting, their first, had a fatal condition, for which nothing could be done.
“It is the worst moment in your life,” Jaime, a U.S. representative from Washington, recalled Friday on TODAY.
“He was looking at us, he was telling us 'your baby has no options.' It’s incompatible with life, it’s terminal. And at that moment, she was moving. She was moving in me, and he is telling me she’s not going to live,” she told Savannah Guthrie. “It was an amazing reality check.”
After a series of unusual prenatal treatments, the baby did survive: Abigail Rose Beutler was born prematurely on July 15, only 28 weeks into her development. Born without kidneys but now receiving peritoneal dialysis, she may be the first child with Potter’s Syndrome ever to survive the condition.
Abigail was born in an Oregon hospital but was quickly flown to California, where she has since remained in the care of physicians at Stanford University’s Lucile Packard Children’s Hospital.
"I don’t think there were any physicians who expected, based on her prenatal diagnosis, to ever reach that stage where she’s simply a growing preemie, breathing on her own, but requiring dialysis," said Dr. Louis Halamek, neonatologist at Packard Children's Hospital and a developmental medicine professor at the Stanford School of Medicine.
Abigail will need a kidney transplant in the year ahead, but her parents and doctors consider the child a miracle.
“She is doing amazing,” Jaime said. “In the last couple of days, we got to the point where we’re holding her. She’s playing. She will scream when her diaper is dirty. She is like any other baby. She has a few challenges, but man, she’s determined.”
Babies with Potter’s Syndrome usually die shortly after their birth because of lung and kidney failure. A fetus diagnosed with the condition lacks amniotic fluid, which is crucial for lung and kidney development.
The Beutlers went to many doctors to no avail before finding one at Johns Hopkins Hospital in Baltimore who agreed to try an unusual treatment, in which Jaime was injected with saline solution over a series of weeks. The saline solution was injected in the womb to take the place of the missing amniotic fluid.
The treatments seemed to work. The baby began to develop normally.
Daniel said they hope their experience sends a message to other parents who may be in similar situations.
“There are no guaranteed solutions and there’s no necessarily magical cures, certainly for (Potter’s Syndrome), but don’t be satisfied with one opinion because there are a lot of intelligent doctors with different perspectives and experiences and opinions, so work to find one who will partner with you to find anything possible,” he said.
Jaime said they learned about the Johns Hopkins physician after another parent slipped her a name and said, “Here’s a doctor who might try.”
“We had more doctors tell us ‘no’ than tell us ‘yes,’ and there are other parents who have had similar experiences,” she said. “We’d like this to be part of the conversation when this diagnosis comes again, so these parents have an option.”