Patient Stories Beyond Fetal Renal Failure: Josiah’s Story

It showed up first as an ominous black dot on the ultrasound: fetal renal failure. Narina remembers sitting in the lobby of her Seattle obstetrician (OB) office a few weeks later, 18 weeks pregnant, sobbing.

"The OB's exact words were, 'Your baby is going to die,'" Narina says. "It was horrible."

The next day, she and husband Chris went to their maternal fetal medicine (MFM) doctor, desperate for a second opinion. Was all hope really lost? Was there truly nothing else they could try?

The MFM answered cautiously, careful not to get their hopes up. He knew of just one doctor in the U.S. who might be able to help: Timothy Crombleholme, MD, FACS, FAAP. This doctor, he told them, was leading fetal care techniques that went beyond imagination - and had developed the very technology Narina needed.

Narina felt intuition ringing through her, clear as a bell:

"This is our miracle," she thought.

Dr. Crombleholme, who directs Connecticut Children's Fetal Care Center, has spent his career turning conditions long thought fatal into something a baby can survive and even thrive with.

That includes fetal renal failure, brought on by kidney failure in a fetus. Thanks to Dr. Crombleholme's research and innovation, it's now possible to save a baby with this diagnosis - even in a complicated pregnancy like Narina's, whose amniotic membranes had detached.

But the treatment for this rare situation is rarer still, offered by just a few fetal care centers. As a result, many pregnancy experts still don't know it's possible - including, unfortunately, the Seattle OB who told Narina she was out of options.

Luckily, their MFM had heard of Dr. Crombleholme's work. At the very least, it gave them a reason to hope.

"It's so important for families like Narina and Chris to know there is a treatment option for fetal renal failure, as opposed to their OB or MFM just saying, well, there's nothing that can be done," says Dr. Crombleholme. "This option won't necessarily be for everybody. But we want families to at least have the information to make up their own minds."

An innovative technique for amnioinfusions

One of the most damaging aspects of fetal renal failure is a complete lack of amniotic fluid around the fetus. So the first step to treatment is amnioinfusion: regular infusions of fluid throughout the pregnancy, often two or three times a week.

A common approach uses a needle every time, the method most fetal care centers offer. But with the fragile state of her amniotic membranes, that wouldn't work for Narina.

She needed a more technically demanding approach: fetal surgery to place a device called an amnioport under her skin, similar to a port-a-cath for chemotherapy. Through that, she could receive infusions without needle sticks - and with more precision, as well.

The amnioport was developed by Dr. Crombleholme around 2010, along with the surgical technique to place it. At this point, it's saved dozens of kids who needed amnioinfusions but couldn't receive them any other way.

For Narina and Chris and their growing baby, it was the only chance. When they learned it was possible, they got on a plane.

When families first come to Connecticut Children's Fetal Care Center, they are often reeling from a diagnosis they've barely had time to process. They spend a day meeting with a team of specialists who can give them answers and guidance - a comprehensive, calming approach unique among fetal care centers.

For a diagnosis like fetal renal failure, this team includes fetal care experts to explain treatment options in utero; MFM and neonatal experts to talk about what to expect during the pregnancy and birth; and other specialists like a transplant surgeon and pediatric nephrologist to explain the care a child will need as they grow. It also includes a psychologist, to talk about the stressors a family is facing now, and could face in the future.

Narina and Chris learned that treatment for fetal renal failure usually has several stages, all aimed at keeping the child healthy until they can have a kidney transplant.

1. During pregnancy: A fetal care team provides regular infusions of amniotic fluid to the fetus. At Connecticut Children's, we are a leader in the amnioport approach developed by Dr. Crombleholme.
2. At birth: A pediatric surgeon places a tube in the newborn's belly to start perineal dialysis, a treatment that does the kidneys' work through their first years of life. Dr. Crombleholme, who is board-certified in pediatric surgery as well as fetal surgery, can place this device on newborns as tiny as 1,500 grams. Most other centers require a higher weight.
3. Often, age 2 or 3: The child may be a candidate for a kidney transplant, which would allow them to come off dialysis. Connecticut Children's 30-plus pediatric specialties work together to support the complex needs of a child after transplantation.

"Dr. Crombleholme was very open about everything. He said it's risky, it's serious, it's still new - he really wanted us to think about it," remembers Narina. "He said, 'If you want to do this, you need to be prepared.'"

They decided they were.

As Narina had known, the rest of the pregnancy wasn't necessarily easy - but everything that truly mattered went to plan.

The day after they decided to pursue treatment, Narina had fetal surgery with Dr. Crombleholme to place the amnioport. The fetal care team monitored her and provided amnioinfusions throughout the rest of her pregnancy, and thanks to the amnioport approach, were able to continue those crucial infusions even when her membrane prematurely ruptured.

When Baby Josiah was born at 33 weeks, Dr. Crombleholme was in the room - the person Narina had come to trust above all others when it came to her baby's health.

"I will always remember the moment Dr. C looked at me and said, 'Narina, he looks great.' That was the moment I knew everything was going to be OK," Narina says. "It still gives me goosebumps."

It was also Dr. Crombleholme who led the surgery on newborn Josiah so he could start dialysis, the kidney-replacing treatment he needs until he can have a transplant. Then, for the next two months of Josiah's NICU stay, Dr. Crombleholme stopped by every day to check in. One day, Narina snapped a picture of him at Josiah's bedside, beaming. It's a photo they both treasure.

"One of the most rewarding parts of my job is seeing the impact our interventions can have on families' lives," says Dr. Crombleholme. "I get birthday cards when these children have birthdays. I get cards from their parents when they graduate from high school or college. It's really wonderful."

Josiah's many miracles

As Narina shares Josiah's story today, he is in the background, paging through a scattering of books and occasionally plunking out notes on the family keyboard. His younger brother, 1-year-old Isaiah, follows him around everywhere. Life is busy under this roof, to say the least.

The family is preparing for another big adjustment: Josiah was recently approved for a kidney transplant, a major milestone for any survivor of fetal renal failure.

"The fact that he made it to this point is huge. It's huge," says Narina. "Once these kids get a kidney transplant, they begin to thrive."

For this moment to arrive, so many things had to go right. A way to do amnioinfusions, despite a complicated pregnancy. A fetal care team who specialized in every aspect of that technology, including the delicate procedure to place it. After delivery, a pediatric surgeon who could perform surgery on their tiny newborn.

Yet, somehow, it all came together. For Narina, the reason is obvious.

"Miracles come in different shapes and forms," says Narina. "Dr. C. was the miracle for us."