Before Rep. Jaime Herrera Beutler’s baby was even born, the odds seemed against her surviving. She hadn't developed kidneys, which meant she didn't produce urine which is the main ingredient of amniotic fluid. Without amniotic fluid, a baby’s lungs can’t develop properly.
But today, little Abigail Rose, who was born 10 weeks early on July 15, is surprising her doctors. She may be the very first baby with Potter’s Syndrome to survive, says Dr. Steven Alexander, one of Abigail’s physicians and a professor of pediatrics at Stanford school of medicine and chief of the division of pediatric nephrology and director of nephrology at the Lucile Packard Children’s Hospital at Stanford.
“She’s certainly one of a kind,” he says.
About one in every 4,000 fetuses has Potter’s syndrome, Alexander says. Until Abigail, none have survived to his knowledge.
Doctors don’t know why some babies, such as Abigail, don’t develop kidneys. Without amniotic fluid to fill up the sac, babies are literally squashed by the uterine walls, Alexander explains, adding that these babies generally end up with distorted skulls and club feet.
“The lethal part, though, is that they can’t develop lungs without fetal urine, which makes up two-thirds of the amniotic fluid,” Alexander says. “Not only does the amniotic fluid keep the lungs from being compressed, but it is also necessary for normal lung development. The baby inhales the fluid which expands the lungs like a water balloon.
When Abigail’s parents heard the heartbreaking diagnosis, they weren’t ready to give up. They sought a second, and then a third opinion – this one at Johns Hopkins Medical Center.
To confirm the baby’s diagnosis by ultrasound, perinatologist Dr. Jessica Bienstock had to inject fluid into the amniotic sac, according to a statement released by Hopkins. On the ultrasound, Bienstock saw the same thing the earlier doctors had seen: a baby without kidneys who had a deformed chest and head due to the lack of amniotic fluid.
Bienstock asked the congresswoman to return for a second ultrasound a week later. That ultrasound showed that some of the fluid from the infusion still remained in the sac and, amazingly, the baby seemed to have taken a turn for the better. Her head and chest seemed to be developing normally and she was moving around actively.
Herrera Beutler asked for another infusion. After informing the congresswoman of all the risks – not to mention the overwhelming likelihood that the baby would die – Bienstock agreed to a second infusion, in hopes that this would allow the baby’s lungs to develop.
The treatment worked and Bienstock repeated it several times.
“This case is unprecedented,” Bienstock, a professor of maternal-fetal medicine in the department of obstetrics and gynecology at the Johns Hopkins University School of Medicine said in the statement. “It would be premature to say that [fetuses that don’t have kidneys] should always be treated using serial amnioinfusion, but this suggest it can be part of the conversation when that is the diagnosis.”
Those treatments are what gave little Abigail a fighting chance, Alexander says. The down side to the treatments was that Abigail was born premature.
“The remarkable thing about this baby is that her lungs are completely normal at this stage,” Alexander says.
Because Abigail has functioning lungs, she can get dialysis – and eventually maybe even a kidney transplant.
That’s the treatment that is currently being offered to babies born with damaged kidneys that work well enough to at least allow their lungs to develop, Alexander says.
“I wouldn’t call it ‘standard of care,’ but it is available in major children’s hospitals here and in Canada and Europe,” he adds.
While that might mean a long wait for a donor organ, it’s possible that someone in Abigail’s family will be the right match for her and then there can be a living kidney donation.
“The advantage to that is that you can then schedule the transplant,” Alexander says. “If a living donation is not in the cards, then she’ll have to be matched with a deceased donor.”