theadanews.com - Ada, Oklahoma

March 18, 2014

A 9-year-old's 'avalanche' of ailments confounds specialists

By Sandra G. Boodman
The Washington Post

— Suzanne Groah remembers feeling hopeful when the nurse hurried down the corridor of a Northern Virginia hospital in January 2013 and announced, "Bingo! We have the answer!" For the previous six weeks, Groah's son, Zachary Fox, then 9, had been suffering from excruciating abdominal pain that had defied explanation. Now a test had identified the problem: his malfunctioning gallbladder.

Groah, a physician specializing in spinal cord injury and an associate professor at Georgetown University, had watched with increasing anxiety and helplessness as Zach vomited as often as 50 times a day and doubled over in pain after eating. He had endured test after test, as doctors ruled out a score of ailments including appendicitis, Crohn's disease and C. difficile, a serious bacterial infection.

Groah was guardedly optimistic that Zach's gallbladder was the culprit. A few days earlier, doctors thought they had pinpointed the problem - an ulcer - but medicine had not made any difference. The same would hold true after Zach's gallbladder was removed.

The correct diagnosis would take two additional months, more painful procedures and trips to several hospitals. A pediatric gastroenterologist familiar with the case called it "one of the most complicated I've seen in 30 years." And once the crisis was over, Groah and her husband, Steve Fox, faced another difficult decision.

For Groah, who was at her son's side throughout his months-long ordeal, the experience left emotional scars. "Being a physician and knowing how the system works - and all the ways it doesn't - got us through this exponentially faster," she said. "But it hurt my relationship with a lot of doctors. I think some of them listened less to me because I was perceived as the crazy mom who knew too much." For a while, Groah said, she was so disillusioned, "I really didn't think I'd be able to return to medicine."

On the morning of Dec. 1, 2012, Zach threw up, then felt better and went to play a scheduled tennis match. A state champion for his age group in Virginia, he had been, his mother said, "a very tough kid who never got sick."

That night he developed a high fever that lasted for several days; his pediatrician diagnosed influenza. Then came a violent spasmodic cough, after which he would vomit: doctors thought he had bronchitis and prescribed steroids. When the cough continued unabated they suspected pertussis. He began taking antibiotics, but the whooping cough test was negative.

In mid-December, after eating a bite of bread at dinner, Zach suddenly complained of severe pain on the right side of his abdomen. He rested for an hour, but the pain worsened. Suspecting appendicitis, his parents took him to the emergency room.

After two days in the hospital, doctors found neither appendicitis nor anything else that would account for his stomach pain. His diagnosis was "post-flu enteropathy," a condition that occurs when influenza temporarily affects the gastrointestinal tract. Improvement would take several weeks - six months at most - his mother remembers being told.

But Groah grew increasingly alarmed as Zach kept losing weight, throwing up continually throughout the day and complaining of severe pain. On Christmas Eve, his pediatrician spent an hour arranging an urgent appointment with a pediatric gastroenterologist for Dec. 26. Zach was admitted to a hospital for an EGD, or esophagogastroduodenoscopy, a test to inspect the lining of the esophagus, stomach and small intestine. After nothing was found, the pediatric gastroenterologist speculated that he was trying to avoid school; three days later, Zach was discharged and went home, vomiting and in pain.

Groah then made an appointment with Scott Sirlin, a pediatric gastroenterologist in Virginia  who had treated one of her close relatives and whom she trusted.

At his first visit in early January 2013, Sirlin recalled, Zach had abdominal tenderness and was repetitively spitting up, but he did not appear seriously ill.

 "I felt that my role was to rule out anything that hadn't been clearly ruled out already," Sirlin said. He suspected rumination, a syndrome in which people regurgitate repeatedly, in part because Zach's vomiting did not disturb his sleep. Because rumination, which can be triggered by stress, can co-exist with other disorders Sirlin felt he needed to look further. Maybe, he thought, the vomiting was the result of a narrowed esophagus.

Zach was admitted to a second Northern Virginia hospital for a battery of tests. When Sirlin found a duodenal ulcer - unusual in children - "we thought we had our answer." But Zach's vomiting worsened despite ulcer treatment.

Sirlin then zeroed in on Zach's gallbladder. He ordered a HIDA scan, an imaging test that uses radioactive dye to track the flow of bile through the digestive system. It showed that the gallbladder was not squeezing out bile. Zach's ejection fraction was zero - the normal range is 35 to 70 percent - a startling and unexpected result.

"The hope was that we take out the gallbladder and he's going to get better," Sirlin said. But Zach was among the approximately 30 percent of patients who don't improve after gallbladder removal. "It was a disappointment. We were all hoping there would be dramatic improvement."

By this time, a child psychiatrist had been brought in to consult. After talking to Zach and his parents, Groah said, he pulled her aside and said he couldn't find a psychological cause. "This is a zebra," Groah recalled the psychiatrist saying, using medical slang that denotes a rare disorder. "Get him to one of the biggest medical centers you can." Sirlin agreed that Zach needed specialized care; on Jan. 19, he was transferred to a children's hospital outside the Washington area.

Groah, who had taken a leave from MedStar's National Rehabilitation Network, where she is director of spinal cord injury research, said she expected that pediatric specialists would take time to think about Zach's case and provide compassionate care. Instead, she said, his care was disjointed and sometimes rushed; some doctors seemed to ignore Zach. When she suggested that the problem might lie in the hepatobiliary system - the ducts that link the pancreas, liver and gallbladder and control the flow of bile - she said Zach's doctors were dismissive and replied, "That's so rare."

"We were in total crisis," she recalled.

Because Zach had lost more than 10 pounds, doctors implanted a feeding tube that would allow him to be fed continuously while they performed more tests. An MRCP, a specialized MRI scan that looks at the liver, pancreas, gallbladder and ductal system, found mild swelling on a bile duct, but doctors weren't sure it was clinically significant.

Zach was discharged Jan. 31; doctors referred him to a children's hospital in the Midwest that specializes in treating GI disorders. Groah called and was told a bed would be available in late March.

Although he had a feeding tube, Zach was encouraged to eat. At home on Feb. 17, after nibbling a few bites of bagel, he doubled over in pain that radiated to his back. His parents took him to the ER; tests showed that his liver and pancreatic enzymes, which had been normal, were elevated. After the pain subsided he was sent home; within a few days, the enzyme readings returned to normal.

When the same thing happened five days later, Groah said, "that was sort of the icing on the cake. We had narrowed the problem down to a small portion of his anatomy": The ducts she had inquired about earlier.

It seemed increasingly likely that Zach might have a rare condition called sphincter of Oddi dysfunction. The sphincter of Oddi is the muscular valve located at the exit of the bile and pancreatic ducts; it controls the flow of bile and pancreatic juices essential for digestion. When the sphincter of Oddi is not working properly these substances back up, causing intense abdominal pain and vomiting. One telltale clue: transiently elevated enzymes.

Groah contacted GI experts around the country. She presented Zach's case - without revealing that the patient was her son, a fact that she felt might influence their responses - and asked whether an ERCP, endoscopic retrograde cholangiopancreatography, was advisable. The procedure is used when the ducts and sphincters don't open properly because they are narrowed or blocked; doctors thread special tools through the ducts to open them. Because of its potentially significant side effects, including pancreatitis, the procedure is rarely performed in children. Groah found a specialist at Boston Children's Hospital who does the procedure; after reviewing Zach's records, he did not recommend it.

But other experts disagreed. Sirlin and Groah separately contacted a gastroenterologist at MedStar Georgetown University Hospital who thought Zach needed ERCP and agreed to perform it. During the March 4 procedure, doctors determined that the swelling on the bile duct was actually a rare choledochal cyst. The problem, which is believed to be present at birth, occurs in roughly one in 150,000 people; doctors decided to monitor it. If left untreated, the cyst can cause serious complications later in life, including cirrhosis of the liver.

A few days after the procedure, Zach felt well enough to go sledding. A week later, he began working with a behavioral therapist and a psychologist to overcome his fear of eating, his vomiting and the receding abdominal pain. In late March, when his weight hit 67 pounds, the feeding tube was removed. He went back to school May 1, and when Sirlin saw him two weeks later, he was no longer vomiting or in pain.

By July, Groah and her husband were confronting a new dilemma: what to do about the cyst. Removing it is a major operation that requires reconstruction of the bile and pancreatic ducts and weeks of recovery. Zach, who had endured so much, was feeling fine, playing tennis and looking forward to fourth grade.

After another round of research and consultations, they decided to proceed. Zach is being closely monitored and is expected to undergo surgery, although no date has been set.

So what caused the avalanche of unusual GI problems - and were they interrelated? Sirlin said that doctors simply don't know. "It sounds as if he was very, very stable until he got the flu and everything broke loose. It's very hard to say what's what. It's an extremely complex case."

Groah, he added, "played a large role in moving us from step to step."

Groah credits the help and support provided by Sirlin and other doctors who were willing to facilitate the search for answers, not dismiss Zach's problem as psychological.

 "One of the most lasting scars was from my peers' not listening to me, not believing me and not taking the time to think about a difficult and challenging problem," she said. "I have a very deep visceral response when I hear another physician suggest that a problem is 'all in a patient's head.' I think that is something that will last forever."