Baby Undergoes Complex Surgeries With Rare Genetic Condition, Celebrates New Milestones

From her baby Evie’s isolation room in Cleveland Clinic Children’s neonatal intensive care unit (NICU), Tiffany Koustis studied for and completed a final exam in one of her courses at the Case Western Reserve University School of Law.

While Evie was simultaneously being treated for COVID-19, RSV, and several other health complications, those hours provided Tiffany with a brief distraction from the 109 days her newborn spent in the hospital after being born at 33 weeks gestation on October 19, 2023.

“There’s no maternity leave for law school, so I think studying became the non-stressful part of my life during that time,” recalls Tiffany, as she and husband Alex Koustis reflected on Evie’s medical journey. “I’m grateful I was able to spend every day with her in the hospital and always be there for her. She has progressed so well!”

Evie, short for Evangeline Victoria Koustis, was born with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a genetic condition that prevents the body from fully breaking down fat to release energy and requires frequent meals to manage. But Evie also had other medical conditions that required immediate attention after her birth. Tiffany and Alex had only a moment to hold her, before she transferred hospitals and was taken to the NICU at Cleveland Clinic main campus.

“I was crying, a mixture of crying and praying. I was terrified,” says Tiffany. Adds Alex, “We knew to trust our Cleveland Clinic team, and we knew they would get Evie home for us.”

The first treatment included surgical repair for esophageal atresia and tracheoesophageal fistula (TEF), a congenital condition in which the esophagus ends blindly and there is an abnormal connection between Evie’s esophagus - which carries food to the stomach, and her trachea - her windpipe.

According to pediatric surgeon Anthony DeRoss, MD, who performed the TEF repair and other surgeries on Evie, her esophagus ended in her upper chest, leaving a lengthy gap where it needed to connect to the trachea at the stomach. The challenge was to close the gap. Despite Evie weighing just 3 pounds 5 ounces, her gap was much larger compared to typical babies with TEF.

“In the first surgery for Evie, we closed that gap. But we weren’t able to join the two ends of the esophagus together safely and without too much tension,” explains Dr. DeRoss, who cited the contribution of Miguel Guelfand, MD, section head of Pediatric General & Thoracic Surgery, for enabling the complex, minimally invasive, thoracoscopic surgery to succeed.

He and Dr. Guelfand used internal traction sutures to stretch and lengthen the esophagus until the ends could finally be joined. They waited four days for the sutures to be effective, then performed another procedure to sew the ends together.

Understandably worried before and after the initial surgery, Tiffany and Alex were comforted by Dr. Guelfand, who took her aside at one point. As Tiffany recalls, he said, “Whenever I’m in there with Evie, in that surgery room, I will care for her like she’s my daughter and give her back to you when we get out.”

A new challenge was persistent reflux, when food from the baby’s stomach would return to her esophagus and cause vomiting. Its cause was the presence of a hiatal hernia, most likely a side effect of the stretching process used to complete the TEF repair. Dr. DeRoss waited a few months for Evie to grow and get stronger, before performing a Nissen fundoplication, a surgical procedure that treats reflux and hiatal hernia by wrapping the top portion of the stomach around the esophagus to prevent anything in the stomach from flowing back into the esophagus.

Meanwhile, Tiffany and Alex, with support from Evie’s nurses in the NICU, were learning the nuances of caring for a baby with MCAD who requires them to carefully manage the length of time between scheduled meals, and to minimize the likelihood of symptoms from her reflux, such as vomiting, that would cause rapid changes in blood-sugar levels. Evie had a surgically implanted feeding tube for the first 8 months of her life.

Since February 2024, Evie’s parents have been caring for her at home, without a feeding tube, and overall, Evie has been thriving. With the guidance of pediatrician Marielle Kulling, DO, and Julie Corder, CNP, who manage Evie’s complex care, Evie has steadily gained weight and reached developmental milestones.

Adds Dr. DeRoss, “We have a great team that helps coordinate the different services patients like Evie need. They make sure her parents have the resources to be empowered to handle Evie’s care. And her parents are doing a great job.”

Evie celebrated her first birthday with family and friends at a farm park near their home in Cleveland, Ohio. The theme was from Evie’s favorite video series, “Hey, Bear,” featuring musical dancing fruits and vegetables. 

Tiffany often reflects on the progress her daughter has made during a trying first year. “All the doctors and nurses have been so wonderful to her and many of the nurses still check on her from time to time. Evie is where she needs to be at year one and we couldn’t be happier.”