After meeting in high school and marrying a few years later, Aimee and Clark Kleinman were ready to start their family. Conceiving their first child was a little more challenging than they expected, but when it finally happened they were overjoyed.
In one of their earliest ultrasounds (16 weeks) they noticed something protruding from their little baby's belly. Since it was their first child they weren't really sure what they were looking at or whether it was out of the ordinary.
Shortly after that a midwife came into their exam room with a small sticky note that had the word omphalocele (pronounced 'ohm-fa-lo-seal') written on it. The condition wasn't something the midwife was familiar with, so all she could tell them was that it was treatable, but they would have to go to a high-risk maternal fetal medicine doctor.
"It's shocking to hear that your child is going to be different," said Aimee. "I had pictured what having a child was going to be like my whole life, and was so excited. To learn it was going to be different than what I expected was heartbreaking."
The Diagnosis
Omphalocele—or what Aimee and Clark started calling "the O"—is a condition where the abdomen doesn't form normally. Rather than being enclosed behind an abdominal wall, the baby's organs are outside of the body. They're covered with amnion, a thin membrane that surrounds an embryo during the early stages of pregnancy and forms the umbilical cord.
"Omphalocele is generally thought to be sporadic," said Scott Short, MD, a surgeon in the Division of Pediatric General, Thoracic, and Neonatal Surgery at Primary Children's Hospital who oversaw Joseph's care for his omphalocele. There is no specific genetic link, but about half of babies born with omphalocele have a chromosomal abnormality. It's more likely in someone with Edwards syndrome (trisomy 18) or Down syndrome (trisomy 21), although most babies with these conditions are not born with omphalocele.
Omphalocele occurs in about one in 5,000 live births, and ranges in size from very small to very large. Joseph's was 'giant,' meaning almost all of his organs from the abdominal cavity were outside of his body, including his intestines, stomach, liver, and bladder. Babies with omphalocele have higher risk of additional birth defects or complications, including poor lung development, digestive issues, and heart defects.
Fortunately for the Kleinmans, University of Utah Health has multiple specialists who coordinate care for medically complicated cases like Joseph. Even before birth, Joseph had a full team of providers working to make sure he would be as healthy as possible.
In 2020 (just over a year after Joseph was born) U of U Health launched the Utah Fetal Center. The program was organized by Stephen Fenton, MD after he saw the challenges that a high-risk pregnancy presented. Parents—already overwhelmed with the normal stresses of having a baby—now had to deal with multiple specialists, appointments, tests, and the possibility of surgical care and extended hospital stays.
All of the care was available at Primary Children's Hospital and U of U Health, but the goal of the Utah Fetal Center was to bring all the services together in a single place. Providers, nurses, care coordinators, social workers, and others are there to help new parents navigate the healthcare system and get the necessary care.
"We try to be really thoughtful about how we support families and how we support our colleagues who manage these conditions," said Dr. Short. "As a regional referral center, we want to have things like our Fetal Center provide that unique aspect of care and that support."
The Preparation
One positive aspect of an omphalocele diagnosis relative to that of other birth defects is the amount of time that doctors and parents have to prepare for it. Since it's visible from a very early stage of fetal development, the Kleinmans and their doctors had over five months before Joseph was born to discuss his treatment plan.
After the 16-week appointment, Aimee went in for ultrasounds every two weeks. Doctors continued to check brain and heart development and gave her steroids to help with Joseph's lung development.
Immediately upon diagnosis, Joseph was tested for chromosomal abnormalities and the first test came back positive for complications with chromosome 18. A follow-up microarray surprisingly showed no abnormalities, but doctors still talked to the Kleinmans about the possibility that Joseph may have severe health or developmental issues before or after birth. If he did, there was a risk of miscarriage or stillbirth, or he may not live long after he was born.
"We were warned frequently throughout the pregnancy that he might not make it," said Aimee. "They even brought up termination at our first high risk appointment, and again when chromosomal abnormalities were detected."
The best resource Aimee found on the condition was a Facebook group of other parents whose children had omphaloceles. She went there for most of her questions and learned everything she could about the condition from the experiences of others in the group.
"I was told and read that we could be in the hospital for anywhere from five days to two years [after his birth]," said Aimee. "That timing, and what condition he was going to be in, was completely dependent on how his body would be reacting to the O. We really had no clue what to expect until he got here."
The Birth and NICU
Bright and early on a planned day at 37 weeks' gestation, Aimee and Clark drove an hour from their home in Utah County to check in to the U of U hospital, which connects by pedestrian bridge to Primary Children's. The cesarian delivery went without a hitch, and they got to see tiny Joseph for just a brief second in the OR before he was rushed into the NICU for urgent stabilization.
Joseph's condition at birth was among the best it could have been for a giant omphalocele, as he only needed low flow oxygen support. Many children with this condition need far more support for the lungs and many end up needing tracheostomies for years.
Dr. Short saw his new patient within just a few hours of his delivery and transfer to Primary Children's. He demonstrated to Aimee and Clark how to cover the softball-sized omphalocele with cream to keep bacteria from colonizing, then wrap it to keep it stabilized so it wouldn't twist.
Their NICU stay was five weeks long, and during that time Joseph was relatively stable aside from needing a feeding tube, oxygen support, and a heart monitor for rapid beating. Perhaps even harder than those first few weeks in the NICU was the day they were discharged to go home.
"I was just afraid I would do something wrong and end up hurting him, he came home with so many machines and wires," said Aimee. "Transitioning from being a NICU baby to being a home baby was so hard. Nurses manage all of that [while you're in the hospital], so taking over all that at home was more than a full-time job."
The next challenge came after just a week at home when Joseph began crying uncontrollably and vomiting large amounts of blood. He was admitted back to the hospital at six weeks old with a bowel obstruction severe enough to require immediate surgery. An abnormal twist in his intestine was blocking his digestive tract and without treatment it would have been life-threatening. But the Primary Children's surgery team knew how to treat him and he did great. 12 days and three surgeries later and they were headed home again.
The Treatment Plan
Dr. Short decided to use a 'paint and wait' treatment after Joseph was born. They spread a daily silvadene cream (which is typically used on burns to promote skin growth) on the exposed omphalocele, then wrapped it in xeroform and gauze. Doing so allows the baby's skin to naturally grow over the sac, a process that usually takes a few months, but may take longer depending on the size of the omphalocele.
"Babies double in weight between birth to six months, so you're hoping the baby's abdominal area will grow enough that the organs fall in and allow you to close that without causing a problem," said Dr. Short. During normal fetal development the abdominal cavity would expand as the organs inside grow, but since the organs were growing outside of his body, there wouldn't be enough room for Joseph's organs to fit right away. Trying to force them in too soon could crowd the lungs and cause breathing problems.
Since his omphalocele was only covered with a thin membrane, Joseph needed a protective cover to prevent damage. It looked like a small turtle shell covering the protrusion about the size of a softball on his tiny newborn body. He couldn't lay on his stomach for several months, and had to have a modified "tummy time" by laying on a board with a hole cut out for the omphalocele. He also couldn't sit in a normal car seat, instead getting a specialized one to lay on his side.
It took seven months for Joseph's omphalocele to fall back into his body and achieve full skin coverage. On top of the daily dressing changes, Joseph required oxygen support for six months, and was feeding tube dependent until Aimee successfully weaned him at 11 months old. Along the way he was developing normally, sitting, crawling, walking and eventually running around. The final stage of treatment was to close his abdominal wall around his organs. Normally this would happen around one year. But Joseph had just overcome his feeding tube and was still very small, so they decided to wait a little longer to avoid complications after surgery.
Joseph had the final procedure right before his second birthday. In the six-and-a-half-hour surgery Dr. Short had to stretch the abdominal muscles to connect together in the center. He placed a piece of pig bio-mesh under the skin to keep it all in place, which will dissipate over time. They had another nine-day stay in the hospital for a toddler and family that was by now very familiar with them. Luckily Joseph made it through with no major complications.
The Outlook
Joseph's long-term outlook is very good. He has a long scar from his sternum to where a belly button would normally be. His breathing is faster than a "normal" kid and he is known by friends and family for grunting when he exerts himself, but he is still a very active toddler. He has a higher risk of developing a hernia where they closed his abdomen. But other than needing thickened liquids for a swallowing disorder unrelated to the omphalocele, he has no lasting complications or issues. Medically, Joseph has an army of specialists at U of U Health who are available to help monitor his development, including a cardiologist, pulmonologist, gastroenterologist, feeding therapist, pediatrician, and Dr. Short's surgical team.
"I was very confident in the surgery team. They have experienced it all and they have a great network to collaborate with each other. When they hit obstacles that weren't standard, like his obstruction at such a young age, they were able to figure it out," said Aimee.
"I loved the team, the collaborative care, the facility itself. I walked into Primary Children's and felt like I was at home. I hated having to be there, but I was so happy and comfortable there. I think that says a lot for a hospital."
Joseph's middle name Owen, and the initial O, is a tribute to what he has been through and overcome.