Motility specialist helps kids get back to enjoying life again

Kelli Morton was at her wit’s end. Her son Christopher, a sweet-natured 15-year-old, was miserable due to digestive trouble, and she couldn’t reach his doctor. Then Christopher’s caseworker told Morton about a new specialist at MUSC Children’s Health.

“She said, ‘Well, there’s a lot of patients going down to Charleston and seeing a doctor down there, and they’ve been very happy with the care. Are you interested in going there?’ I said, ‘Absolutely,’” Morton remembered.

And with that, the boy from Westminster, South Carolina, was on track to connect with Ricardo Arbizu, M.D., a doctor specializing in something few other physicians have focused on: gastrointestinal motility testing.

“Motility testing provides a comprehensive evaluation of the motor function of the upper and lower gastrointestinal tract,” Arbizu said.  

Arbizu trained in Neurogastroenterology and Motility at Boston Children’s Hospital, one of the teaching hospitals of Harvard Medical School. Then he headed to MUSC Children’s Health, where the chief of the Division of Pediatric Gastroenterology, Antonio Quiros, had decided to make motility testing a priority because the need was so great and the pool of places that offered it was so small.

Arbizu was immediately in demand, becoming known for not only his expertise but also his compassion, according to Christopher’s mother. “He had the best bedside manner I had ever seen,” she said.

Arbizu’s patients aren’t kids with run-of-the-mill stomach aches. They’re children with gastrointestinal symptoms that haven’t responded to traditional therapy. Some have bowel issues related to a congenital or underlying disorder. In others, the symptom is the disease itself. In both instances, these symptoms can keep children from going to school and away from activities they enjoy.

“Part of the treatment is trying to get them back to a normal life,” Arbizu said. “It’s very rewarding just to get to help them out.”

Arbizu typically sees about a dozen patients in the Motility Clinic at MUSC Children’s Health each Monday. “Patients with motility problems tend to be very complex. They may have a history of chronic vomiting, difficulty swallowing, abdominal distension or intractable constipation,” Arbizu said. "The majority of kids with motility issues tend to have normal testing, including endoscopic work up. So, the next step is to evaluate how their gastrointestinal tract is functioning, and that’s how they get to me.”

Christopher is a good example of that complexity. His mother said he has mitochondrial encephalomyopathy, Ullrich muscular dystrophy and autism spectrum disorder.

But when he’s not having a GI crisis, Christopher usually has a smile on his face, with his dog Buddy by his side and toy action figures to keep him company.

“He’s mentally much younger than his age,” his mother said. He still enjoys the simple pleasures of boyhood. “He loves to go to the river and put his feet in. He loves to swim. He has several friends - he loves to go to their house and play with them. He loves life.”

But Christopher’s GI problems can take a heavy toll. “While we were out of town, Christopher’s stomach got very bad again,” his mother said of the family trip they took just before he saw Arbizu for the first time. “He was pouring liquid from around his feeding tube, he was distended, he was crying because he was hurting, and nothing we were doing was helping. It was like everything that went in came pouring back out.”

They already had an introductory appointment set with Arbizu, but called to see if Christopher could come in earlier. The answer was yes, and they made the five-hour drive to Charleston the next day.

“Before we’d even seen Dr. Arbizu, the doctor had started a game plan,” Morton said. “I was so relieved when we walked in and he said, ‘What we’re going to try to do is get Christopher more comfortable.’ Christopher was on a ton of laxatives, but they weren’t working anymore. And hadn’t been for a long time. So Dr. Arbizu took him off of all of them.”

Arbizu also did X-rays to assess Christopher’s situation, then started him on high volume enemas. “We can at least decompress his stomach and stop some of the pressure,” Morton said the doctor told her.

Christopher was admitted to the hospital a few weeks later for more extensive treatment. “Dr. Arbizu didn’t want him to be miserable or in pain,” Morton said. “When we were in the hospital, Dr. Arbizu made an effort, even if he wasn’t working in the hospital that day, he’d come by the room and see Christopher and make sure we didn’t have any questions. He had the best bedside manner I had ever seen.”

Christopher’s parents and Buddy stayed in his hospital room with him as Arbizu and his team worked to find long-term solutions to his digestive problems. “They did a Botox injection to his pylorus to see if that would help move things along,” Morton said. The pylorus connects the stomach to the small intestine.

“Dr. Arbizu also did an endoscopy. Christopher had never had those things done previously,” Morton said. An endoscopy is a procedure that lets the doctor use a flexible tube to inspect the GI system.

A few months later, Christopher underwent motility testing. His parents were aware how unusual that opportunity was. “From what I understand it’s testing that only a few places in the U.S. can do,” his mother said.

One common problem treated is constipation, a general GI problem, but in the motility clinic, patients are seen for what’s known as medical refractory constipation, which means they haven’t responded to conventional medical therapy. The clinic offers motility testing to assess this condition as well as help  patients with bowel issues who have spinal problems or congenital anorectal problems.

Arbizu does four types of motility testing, based on the child’s symptoms.

• Esophageal manometry
• Antroduodenal manometry
• Colon manometry catheters to measure the motor activity of the colon
• Anorectal manometry

Arbizu said the evaluation targets treating the symptom as the disease versus trying to figure out if there’s a specific disease causing the symptom. Testing involves the use of a long catheter that measures the motor function of the gastrointestinal tract and sphincter function. Depending on the test, the catheter is placed either while awake or endoscopically under anesthesia. The duration of the test also varies from 20 minutes to up to 8 hours.

Christopher’s intestines didn’t show much function at all, she said. So Arbizu recommended an appendicostomy, which involves putting a tube in the appendix to make it possible to flush out the colon every day. Christopher had the procedure and so far, has not had to go back into the hospital. “Christopher is doing well,” his mother said.

He’ll return to Arbizu’s clinic in July for a checkup. “We really just want him to be comfortable and happy and not in pain,” his mother said. “If anything can be done to help Christopher’s quality of life, that’s what we want. Dr. Arbizu has taken the guesswork out of that for us.”