It’s difficult for Jennifer Cox to think about what could’ve happened to her daughter, Charlsie, if they hadn’t transferred her to Cincinnati Children’s. But she does so with stark honesty.
“One hundred percent she would not have made it,” said Jennifer. “I have no doubt, Dr. [Michael] Helmrath and everybody up there at Cincinnati Children’s absolutely saved her life. She was dying down here [in South Carolina].”
Michael A. Helmrath, MD, is the former surgical director for the Cincinnati Children’s Intestinal Rehabilitation Program. He first met Charlsie in September 2018 when she became his patient at 4 months old.
But it was Jennifer’s initial conversation with Dr. Helmrath a week earlier, just before he boarded a plane to China for a conference, which convinced her and her husband, Michael, to travel to Cincinnati for Charlsie’s much-needed care.
“He has such a joyful personality. I don’t know how else to explain it. Just him calling me and speaking to him pretty much immediately made the decision for me,” said Jennifer.
Born premature at 27 weeks and weighing 1 pound and 11 ounces, Charlsie had difficulty with initial feeding. She soon developed necrotizing enterocolitis (NEC), a common gastrointestinal emergency in newborn babies.
However, an infection from NEC caused scarring, which significantly narrowed her bowel. After several operations in South Carolina failed, Charlsie was left with near-total bowel loss and severe cholestasis, a liver disease caused by reduced or blocked bile flow.
Doctors had told Jennifer and Michael the hopes of survival were minimal and that a bowel transplant was Charlsie’s only option. They disagreed. Instead, they were researching intestinal rehabilitation centers and weighing other options when Dr. Helmrath contacted them.
As was the case with Jennifer, Dr. Helmrath said he often calls parents on the phone after sending them an initial email explaining his preferred approach and detailing the successful outcomes of similar patients.
“I always offer to speak to them after the email as there are too many things to cover by email,” said Dr. Helmrath. “The key for these patients is time, and what limits that time is the progressive liver disease. Therefore that is what we need to focus on initially.”
Jennifer and Michael agreed with Dr. Helmrath’s plan. The one thing they wanted to avoid was having Charlsie’s bowel surgically removed.
“I wanted to take her to a rehab facility first. And then if she needs a transplant, fine. But I was not jumping straight to a transplant,” said Jennifer.
According to Dr. Helmrath, the life expectancy for similar patients after a bowel transplant is 50 percent in five years and requires a lifetime of immunosuppression therapy. In comparison, the Cincinnati Children’s approach provides for a much longer expected lifespan.
“I expect [Charlsie] to live a full life—70 to 80 years,” said Dr. Helmrath. “Why expose her to [transplant] risks?”
Charlsie would require five additional surgeries between November 2018 and June 2019. She is now a child with short bowel syndrome (SBS).
“Reconstruction of the bowels took multiple attempts for several reasons that included not only her loss and damage of bowel but also her loss of abdominal wall,” explained Dr. Helmrath.
In Charlsie’s advanced case, NEC resulted in transmural damage of her entire small bowel that had the appearance of advanced “necrotic” or dead tissue.”
“We recognize that even in the worst appearing cases, some bowel can regenerate, providing hope,” said Dr. Helmrath.
Despite the ups and downs, Jennifer and Michael were amazed at what Dr. Helmrath and team were able to accomplish. Less than 10 percent of their daughter’s bowel remained, but the size was not their primary concern. Most importantly, her bowel needed to function properly.
“We are now in a far better place than [Charlsie] would be in with a transplant,” said Dr. Helmrath. “It is very important that the family recognizes that the path forward exists, and therefore they may be hearing hope for the first time in a long time.”
Jennifer and Michael did hear the hope, and they trusted Dr. Helmrath and team with their daughter’s life. And now, they are seeing positive results following years of ongoing treatment. Charlsie is healthy and gaining weight while working with a nutritionist and a speech therapist, as well as occupational and physical therapists. She is currently being treated by Conrad R. Cole, MD, medical director of the Intestinal Rehabilitation Program.
Though still on 10 hours of total parental nutrition (TPN) each day, she’s making progress and continuing to increase her bolus feeds and drinking 1 to 3 ounces of water a day.
“Charlsie continues to defy all the odds,” said Jennifer. “While she remains delayed and has an oral aversion, she’s the happiest toddler around.”
Dr. Helmrath is proud of Charlsie’s continued improvement and is happy to announce that the Intestinal Rehabilitation Program is expanding thanks to a recent growth award. As a result, they welcomed new team members, including surgical director Paul Wales, MD, and nurse practitioner Marilyn Stoops. The goal is get more patients like Charlsie to Cincinnati Children's and provide the necessary care in the most efficient and stress-free way possible for families.
“Having an established team here all the time is now a reality due to the significant support [Cincinnati Children’s] provided us,” said Dr. Helmrath. “Our care for intestinal rehabilitation patients at Cincinnati Children’s is unique from most of the country based on our experience and approach.”
(Published April 2022)