Amelia’s parents were surprised and delighted when they learned they were expecting their first child. The happy couple knew life was about to change, but they never expected their baby would face multiple challenges, ultimately being diagnosed with VACTERL, a rare and potentially life-altering condition.
Early in pregnancy, Mom began to experience severe swelling. By months four and five, she had gained nearly 40 pounds, mostly from retained fluids. She expressed concern to her obstetrician, who quickly reassured her that swelling was normal during pregnancy.
“I was sure my swelling wasn’t normal, but I didn’t press,” Mom explained. “I was absolutely miserable, barely able to walk a few steps without getting winded and needing support. I wasn’t on bed rest, but I spent most of my time there.”
At her 24-week ultrasound, her obstetrician saw fluid in Amelia’s belly and referred Mom to Dr. Emma Rodriguez, a Maternal-Fetal Medicine Specialist with CHRISTUS Children’s Fetal Care Center.
“On the drive home after that ultrasound appointment, my husband and I didn’t talk,” Mom recalled. “I think that was the first time we’d ever driven somewhere without saying a single word to each other. Over the next few weeks, we began to realize that nothing about this pregnancy was going to be normal.”
“Our initial concern was fetal hydrops, a condition where fluid accumulates in two or more compartments of the baby’s body and can lead to severe swelling and heart failure,” Dr. Rodriguez explained. “At that time, Amelia only had ascites, or fluid accumulation in the abdomen, so we continued to monitor mom and baby closely.”
Mom’s blood pressure was also elevated, and after learning about her severe swelling and rapid weight gain, Dr. Rodriguez grew concerned about Ballantyne syndrome, or mirror syndrome, a condition in which a mother begins to experience symptoms similar to fetal hydrops and may have severe hypertension. Mom saw Dr. Rodriguez at least every other week, sometimes weekly, to closely monitor her symptoms and Amelia’s development.
Almost as dramatically as it began, Mom’s swelling dissipated and she quickly lost the 40 pounds of retained fluid. Amelia’s ascites also reversed, doubling the positive news for Mom and Dad, but there were still concerns about Amelia’s prognosis.
“The most difficult part of a high-risk pregnancy for families—and us as providers—is the unknown,” Dr. Rodriguez explained. “It’s easy to focus on the uncertainties and overlook the positives, but I was very reassured by what I saw of Amelia in utero. We performed weekly biophysical profiles, which assess fetal well-being by evaluating fetal movement, tone, breathing movements and amniotic fluid volume. These were always reassuring. At each of Mom’s appointments, we were able to see more of Amelia’s anatomy and gather more information, especially as fluid levels decreased.”
Via ultrasound, Dr. Rodriguez found several issues to investigate: a hole in Amelia’s heart, a possible missing kidney and potential issues with how the esophagus connected the throat and stomach. To get a more definitive diagnosis, Dr. Rodriguez sent Mom for an MRI. The results confirmed that Amelia had one kidney and revealed a birth defect that would prevent the normal passage of stool and urine.
“I was 34 weeks along at the time of the MRI,” Mom said. “That was probably the worst part of the pregnancy for me. I was miserable with worry, not knowing if Amelia was going to make it to delivery.”
At this point, Amelia was also measuring very big, and Mom had been diagnosed with gestational hypertension. The decision was made to proceed with a C-section at 37 weeks, giving the CHRISTUS Children’s team three weeks to prepare for Amelia’s arrival.
“Here at CHRISTUS Children’s, we have a Fetal Care Center staffed by a multidisciplinary team of board-certified specialists who manage complex fetal diagnoses. Our team includes MFMs, neonatologists, cardiologists, radiologists and pediatric specialists,” Dr. Rodriguez said. “As a maternal fetal medicine specialist, I regularly utilize this resource for my patients. Our team meets monthly for a Fetal Care Conference, where we will discuss the details of a patient’s case so that all specialties are aware and prepared for delivery. In a way, I serve as the front door for Amelia and other patients to access all of the experts they will need after birth.”
Amelia was born on July 16 and quickly whisked away to CHRISTUS Children’s Level IV NICU.
“Amelia ended up being in the NICU for 19 days,” Mom said. “As first-time parents, we had a lot of conversations with the doctors and nurses. They always made time to educate us, keep us in the loop and help us feel prepared to bring Amelia home. We knew she was in good hands.”
Shortly after birth, CHRISTUS Children’s specialists were able to condense Amelia’s diagnoses to one – VACTERL, which refers to birth defects affecting at least three of the seven body systems represented by the condition’s acronym:
Amelia has four affected body systems. Her C3 and C4 vertebrae are compressed, but her specialists don’t expect she will have any long-term issues or need surgery for this minor defect. Amelia still has a small hole in her heart that will be covered by muscle as she grows, and her one kidney continues to be in good condition. The most urgent concern was the complex congenital abnormality involving her lower anatomy that prevented her from passing stool and urine normally.
The morning after Amelia was born, the family met Dr. Chris Westgarth-Taylor, a pediatric colorectal surgeon and director of CHRISTUS Children’s Pediatric Colorectal and Urogenital Program.
“We knew Amelia would need surgery soon after birth, but the team couldn’t tell us exactly what to expect until she arrived,” Mom explained. “We are so grateful for Dr. Westgarth-Taylor. He was very patient as we asked what probably felt like 1,000 questions, and he did a great job of explaining the surgery in a way that we could easily understand.”
That evening, Amelia underwent a colostomy procedure to allow her stool to pass through a small opening in her abdomen into a small, sealed bag attached to the skin. Dr. Westgarth-Taylor visited the parents to share the surgery had gone well and to discuss the next steps in Amelia’s care.
Dr. Westgarth-Taylor explained to the family that over the next several months, his team would conduct detailed imaging studies to better understand Amelia’s anatomy. “When Amelia is around 6 months old, we plan to perform a second surgery to reconstruct her anatomy,” Dr. Westgarth-Taylor said. “Once she’s fully healed a few months later, we’ll complete a final procedure to reverse the colostomy.”
Dr. Westgarth-Taylor and the specialized team at CHRISTUS Children’s will continue to support Amelia through adulthood, since children born with anorectal malformations can face ongoing challenges with bowel and bladder control.
“Our goal is to equip Mom and Dad with the tools and support they need to help Amelia achieve the best possible quality of life,” Dr. Westgarth-Taylor said. “Through our clinic, they have access to a comprehensive team—including myself, social workers, psychologists and urologists—so they don’t have to manage multiple appointments. We’re able to provide everything they need in one place.”
Today, Amelia is thriving at home with Mom and Dad.
“We have come a long way in just six months,” Mom said. “Amelia is such a happy baby and is meeting milestones. Every day, we feel so fortunate that I was referred to Dr. Rodriguez and that Amelia received the care she needed at CHRISTUS Children’s. Even with so many specialists to see, our care never felt disorganized. Everyone was on the same page and working together. We know that our story could have had a very different outcome if we hadn’t ended up at CHRISTUS Children’s.”
At CHRISTUS Children’s, no family walks their journey alone. From maternal-fetal medicine and neonatology to specialized pediatric surgery, every child receives personalized, expert care.
For more information about our coordinated, compassionate care, visit CHRISTUS Children’s.
