Gastroschisis: Nathan’s Story
Patient Story Highlights
- A couple who tried for over 10 years to have a baby finally got pregnant with the help of invitro fertilization and a gestational carrier.
- An abnormality in the gestational surrogate's blood work at 19 weeks revealed that the baby had gastroschisis, a rare birth defect.
- The Fetal Care Program at Johns Hopkins All Children's Hospital provided coordinated personalized care for the complex pregnancy, including a team of specialists, counseling, and support services.
Becca and Michael tried for more than 10 years to have a baby.
Finally, with the help of invitro fertilization and a gestational carrier, their baby was on the way. Although they live in Buffalo, their gestational surrogate was in St. Petersburg, Florida. She was receiving care with Tess Chase, an OB-GYN at Johns Hopkins All Children’s Hospital. An abnormality in her blood work alerted Chase that there may be an increased risk for a birth defect and the patient was referred to Bradley Sipe, a maternal-fetal medicine specialist for evaluation including a detailed anatomy ultrasound on the fetus at 19 weeks gestation. The result showed the baby had gastroschisis, a birth defect where the baby’s intestines exit the body through a hole in the abdomen.
“Nothing screams things are out of your control like a third party carrying your baby that has a rare birth defect,” Becca says. “It was just so one in a million that this would happen.”
Despite the uncertainty, Becca gained comfort from what happened next, both in the short term and along the path to taking her baby home several months later.
What is Gastroschisis?
Gastroschisis (pronounced gas-troh-skee-sis) is a birth defect where a hole in the abdominal wall next to the belly button allows the intestines and sometimes other organs to escape the body. Researchers estimate 1 in 1,953 babies are born with gastroschisis, according to the Centers for Disease Control and Prevention. It requires a surgical repair shortly after birth to put the organs back in place. The cause of gastroschisis is unclear.
The maternal-fetal medicine program at Johns Hopkins All Children’s specializes in managing complex pregnancies, so they see a higher percentage of gastroschisis and other anomalies.
“Our numbers are skewed because of the high-risk referrals we get,” Sipe says. “We’ve probably seen five or six in the past year.”
After delivering the diagnosis to the gestational carrier and the parents, Sipe alerted Fetal Care Program coordinator Jackie O’Toole-Segler, R.N. Within 48 hours, Johns Hopkins All Children’s had given Becca a phone number to call with any questions and scheduled a meeting with the Fetal Care Program team to discuss the treatment plan for her baby.
“From the beginning of November, if I had any questions or anything, I had a point person in the office that I could talk to ask any questions,” Becca says. “Then they scheduled a video conference with all the specialists. I was pretty impressed with that.”
The Fetal Care Program at Johns Hopkins All Children’s offers coordinated personalized care for complex and high-risk pregnancies from before birth through delivery and into follow-up care. It brings together whatever combination of specialists needed for the fetal anomaly or condition being treated. In this case, there were specialists in OB-GYN, perinatology, neonatology, surgery and psychology.
“Expectant mothers with high-risk or complex pregnancies go through a rollercoaster of emotions, often filled with uncertainties, questions, fears and a sense of helplessness of what is to come,” says Mara DiBartolomeo, a neonatologist and medical director of the Fetal Care Program. “The goal of the Fetal Care Program is to be excellent for these families. We strive to seamlessly coordinate their care from that moment forward, bringing the specialists together, engaging the parents. It adds a very unique layer of support, aiming to ease much of this stress and uncertainty, and providing families the tools and understanding they need to best advocate for their babies.”
When the Fetal Care team met in January with Becca, Michael and the gestational carrier, Becca wasn’t sure how it would go. She had painstakingly studied gastroschisis and joined a support group. Michael had been slower to embrace the specifics of their baby’s condition.
“My husband and I are totally different in how we process things,” Becca says. “What I thought was really great about that meeting we had in January, was that it was great for both of us. I knew what they were talking about because I had done my research. But for someone like my husband who was very scared about something happening to our baby, they really explained what gastroschisis was. They really went through what was going to happen for the baby at the time of birth, and I thought it was really well organized. It was a great way for him to understand what was going to happen and be confident about it.”
An Early Birth, a Quick Repair
The gestational carrier’s water broke and baby Nathan was born March 2 at 34 weeks gestation, more than three weeks ahead of the plan.
Two hours after birth, pediatric surgeon Christopher Snyder, had placed the intestines back inside and repaired Nathan’s abdomen.
“Nathan had a primary closure so they got his intestines back in his body the first night,” Becca says. “And Dr. Snyder was able to fix it so it’s kind of a big belly button. If you look at him now, you can’t even tell.”
It’s Not Over
Even after repair, infants with gastroschisis often have trouble with eating and digesting food and absorption of nutrients. Nathan struggled with those issues and ultimately spent 107 days in the neonatal intensive care unit (NICU), which holds a Level IV rating, the highest available from the American Academy of Pediatrics.
“He was diagnosed with feeding intolerance,” Becca says. “Pretty much, we couldn’t get the gut to work.”
“Nathan had numerous challenges with poor intestinal function, feeding intolerance, urinary tract infection and necrotizing enterocolitis,” says Fauzia Shakeel, a neonatologist who leads the hospital’s intestinal rehabilitation team known as CUIRE (Care Under Intestinal Rehabilitation Excellence).
In their three-month stay, Nathan’s family got to know most of the neonatology and NICU team, and Becca was impressed by their commitment to the babies and how well they worked together.
“The work they do there is really quite amazing,” she says. “We're just really impressed with the level of care that we got from start to finish. We felt like they saw him as a baby, not just as a medical patient.”
In addition, the hospital has specialized medical teams like the multidisciplinary intestinal rehabilitation team, which specializes in a collaborative approach to complex intestinal disorders including gastroschisis and intestinal failure.
Becca is especially grateful to Shakeel and the intestinal rehab team for using different feeding strategies like donor breast milk due to Nathan’s feeding intolerance and history of intestinal infection. It worked and helped him transition to home safely without any further medical or surgical interventions.
“He's thriving after having gastroschisis,” Becca says. “That's monumental in and of itself. They did a great job medically, but the staff at this hospital, they really do care.
“No one believes Nathan was a baby with gastroschisis because he's got big cheeks and he's chubby. However, Mike and I will always remember his start and all of the support we got at Johns Hopkins All Children’s Hospital.”