Colorectal

Patient Stories | Rhys and Imperforate Anus

Elise first learned something might be wrong during her baby’s 3D ultrasound. 

She’d had complications during her last pregnancy, so when she became pregnant again, Elise’s OB/GYN referred her to a maternal-fetal medicine specialist near her home in Indiana. Maternal-fetal medicine doctors provide care for high-risk and complicated pregnancies.

“The doctor said there was an area she was concerned about, some abnormalities she’d seen,” Elise recalled. “The abnormalities led her to believe the baby might be born with an imperforate anus.”

An imperforate anus occurs when a baby is born without an anal opening. It affects around 1 in 5,000 infants.

“We were going to change everything, including where I delivered,” Elise said. Yet a subsequent fetal MRI showed that everything looked good, with no evidence of a malformation, so Elise and her husband, Chad, decided to move forward with their original delivery plans.

Searching for the Best Possible Care

William “Rhys” was born in December of 2022.

“They were cleaning him up, and I saw the nurses looking at each other, communicating something with their eyes,” Chad said. “Then I watched them lift Rhys’ legs and saw there wasn’t an opening there. Thankfully, we’d already been introduced to this as a possibility, so we weren’t totally shocked.”

At the hospital, an ultrasound confirmed Rhys had been born with an imperforate anus. An echocardiogram also showed he had an atrial septal defect (ASD) and a patent foramen ovale (PFO), which are holes in the tissue wall that separates the heart’s left and right upper chambers. In addition, imaging tests showed possible spinal cord abnormalities.

Within 24 hours of birth, Rhys had a colostomy operation to form a stoma (an opening in the abdomen that allows waste to pass through). 

Chad and Elise knew Rhys would eventually need a larger operation to create an anal opening, but they wanted to do their homework first to ensure he received the best possible care. They connected with a couple in their hometown whose son had been born with the same condition and was treated at Cincinnati Children’s.

“We started looking at Cincinnati Children’s and what they had to offer, particularly their colorectal program,” Elise said, referring to the Colorectal Center, which provides comprehensive, multidisciplinary care for children with complex colorectal disorders. “We heard the colorectal and urology doctors worked together as a team. We figured that would be our best bet because everyone would know what was going on with Rhys and work together on his care." 

Chad agreed: “It felt like a good fit for us because we wanted the best for our child.”

Charting a Path for Rhys’ Success

Chad and Elise first brought Rhys to meet Beth Rymeski, DO, surgical director of the Colorectal Center, and Allie Patton, RN, just a few weeks after his birth. They shared that Rhys’ colostomy bag constantly leaked, and they’d had trouble getting help or answers from his care team at the previous hospital. 

As a gastrointestinal nurse herself, Elise expressed frustration that she couldn’t help her son. 

“It hurt my heart,” she said. “I’m very familiar with colostomy bags, so the fact that I was having so much trouble was really difficult.”

Allie immediately called in a nurse who specializes in stoma care to teach Elise and Chad some techniques that would help reduce the leaking.

“Ever since then, it was a complete life change,” Elise said. 

Dr. Rymeski explained that Rhys would need an operation when he was 3 months old to create an anal opening—a procedure called a pull-through—and to rule out any issues in the urinary tract. The surgery would be a joint operation between her and a pediatric urologist. 

Then, at 5 months old, Rhys would need another surgery to reverse his stoma and get rid of his colostomy bag.

The surgeries were performed in March and May of 2023. Before, during and after each operation—whenever Chad or Elise had questions about what was going on—they received answers quickly.

“Elise would send us questions through MyChart or call us, and I’d help walk through things with her,” Allie said. “She always knew she could reach out if she had a question or concern. And, if we couldn’t answer something immediately, we’d help her find the right pathway to get there.”

Stool Excitement

During his surgeries and recoveries, Rhys was “a rockstar,” Chad said, even after an infection scare at the incision site and a fourth revision surgery this past February.

“Rhys is handling everything just great,” he said. “I don’t know many adults who could have had four surgeries in 14 months and handled it as well as he did.”

The first time Rhys had a bowel movement on his own, Elise cried. “I took a picture of it,” she laughed. “The nurse staff came in and cheered. They gave us a poop emoji pin to go on his diaper bag. I never thought we’d be so excited over poop, but we were.”

Chad and Elise met with a dietitian on the Colorectal Center team to learn how to transition to solid foods with Rhys, including which foods to try and which to avoid. They met with a neurosurgeon who reassured them that Rhys had no spinal issues that would affect his quality of life. They also met with a cardiologist who confirmed the holes in Rhys’ heart but told Chad and Elise that, for now, they could take a watch-and-wait approach to treatment. For follow-up, Rhys will see a Cincinnati Children’s cardiologist near his home once a year.

A Care Team That Checked All the Boxes

Chad and Elise understand that potty training their now-18-month-old will look a little different than it does for most toddlers. But that’s one of the reasons they chose Cincinnati Children’s, which offers a dedicated program for potty training kids with colorectal conditions.

“[Chad and Elise] recognize that it’s all part of the care,” Dr. Rymeski said. “They’re interested in our expertise as Rhys continues to grow. Even though his surgeries are done and we hope he never needs another one, we know that if kids born with this condition aren’t managed correctly, they can get into a lot of trouble with constipation and other issues that can make potty training extremely difficult. 

“Chad and Elise are so good at doing the preventive care and the follow-ups, even when Rhys is doing well, because they want their child to be successful.”

For their part, Chad and Elise trust Rhys’ care team completely.

“Cincinnati Children’s provided everything we were looking for—team collaboration, availability and options, education, support and resources—in addition to the very best treatments,” Elise said. “I’ve never seen anything like it. We’ll never go anywhere else. If our kids need anything, we’ll go to Cincinnati Children’s.”

(Published July 2024)