By Sandra G. Boodman
Special to The Washington Post
Monday, November 15, 2010; 3:16 PM
It seemed to Lisa and Brian Billiter that their youngest daughter had been born with an unusually sensitive stomach.
As an infant, Breanna, known as Bree, would spit up her entire meal if she ate just one extra spoonful of baby food, Lisa said. At 18 months, she would awaken once a week between 2 and 5 a.m., vomit once and go back to sleep, usually showing no sign of illness or distress.
Her pediatrician seemed unconcerned, attributing Bree's vomiting to something she had eaten, a virus that one of her three siblings had brought home or an ear infection. When the early-morning episodes increased in severity after Bree turned 2, the doctor ordered a CT scan to check for a brain tumor.
Finding nothing, she tried to reassure the Billiters, who live in West Barnstable, Mass. " 'Don't worry about it, she's growing normally,' " Lisa recalled the doctor telling her.
But as Bree got older, the episodes became more intense - and more frightening. The little girl would vomit convulsively, sometimes for only a few minutes, at other times for hours, risking dehydration and sometimes prompting a trip to the hospital. Her parents learned to recognize the onset of episodes: Bree would complain of severe nausea, yawn repeatedly, then start throwing up. During an attack, she seemed unaware of her surroundings and unable to speak, her mother said.
But a few hours after the incidents ended, Bree was back to normal, tucking into a full meal as if nothing had happened.
"It was just sort of a way of life," recalled Bree, now 18, a freshman fashion design major at the Massachusetts College of Art and Design in Boston. It took doctors more than five years to figure out what was wrong - a protracted and sometimes painful process that involved myriad tests and many false starts.
For Lisa, the worst part was contending with unsympathetic doctors who seemed to minimize her child's baffling problem and had little to offer. "We had nothing in our arsenal," she recalled.A terrifying episode
Between the ages of 2 and 6, Bree was shuttled to and from the pediatrician; an ear, nose and throat specialist (ENT); and, sometimes, the local emergency room in search of an explanation.
At first the culprit seemed to be her frequent ear infections; a combination of amoxicillin and Pepto Bismol initially arrested the vomiting, and the Billiters noticed that the probem rarely occurred in the summer, when ear infections tend to diminish.
But after Bree had tubes surgically placed in her ears, a common treatment for recurrent ear infections in children, the infections waned but the episodes didn't; the ENT ruled out an ear problem as the reason for the strange episodes. An X-ray showed no obvious anatomical cause. No one knew why Bree sometimes went weeks or months without an episode, why they started in the early morning hours and why emotional events both good and bad - a birthday, Christmas, a test at school - seemed to trigger one. Some relatives suggested that Bree might just be overly nervous.
One of the scariest episodes occurred in January 1999 when Bree, then 61/2, began vomiting blood. Her terrified mother drove her to a nearby emergency room, sprinting in the door carrying her limp daughter, whose face was streaked with blood.
Doctors hooked her up to an intravenous line to treat dehydration, ran some tests and gave her an antacid and a sedative, which quelled the vomiting. Within a few hours, Bree was much better. The ER physician suspected she might have an ulcer and suggested the Billiters consult a pediatric gastroenterologist.
Lisa said she wanted a referral to a doctor at the internationally renowned Children's Hospital in Boston, but the family's pediatrician balked at sending her to a specialist. "I was crying," she recalled, so the pediatrician referred Bree to a gastroenterologist at a different hospital.
Doctors there began a workup: blood and urine tests and more scans, as well as an endoscopy to detect an ulcer, and an EEG to check for epilepsy. They found little other than reflux and a mild sinus infection.
"The exact cause of Breanna's cyclic vomiting remains unclear to me," a pediatric neurologist wrote, suggesting the possibility of an unspecified metabolic disorder or an abdominal migraine, an illness characterized by stomach rather than head pain.
"It was really clear they didn't have a clue," Lisa said.
At the same time, Brian, who was finishing his nursing degree, began working for another pediatrician. The family switched practices, secured a referral to Children's and took Bree to see a pediatric gastroenterologist, Alan Leichtner.A turning point
Leichtner, now associate chief of gastroenterology and nutrition at Children's, says he had a strong suspicion he knew what was wrong the first time he first saw Bree in 1999. But before a definitive diagnosis could be made, more than a dozen ailments that can cause vomiting and associated symptoms must first be ruled out.
After a few more tests and an evaluation by a pediatric neurologist at Children's, Leichtner told the Billiters that Bree was suffering from cyclic vomiting syndrome (CVS), a little known and poorly understood disorder that can range from mild to debilitating.
"It's pattern recognition," said Leichtner, an associate professor of pediatrics at Harvard Medical School who has treated more than two dozen children with CVS. "She fit the pattern."
First identified in 1882 by British physician Samuel Gee, CVS has no known cause and no cure, according to an article in emedicine, a medical textbook. There is a strong genetic link to migraine headaches - many sufferers have relatives with a history of migraines, as does Bree - and children who outgrow CVS often develop the headaches as adults.
But CVS differs from an abdominal migraine because its most prominent symptom is vomiting, not stomach pain.
Vomiting typically begins early in the morning or upon waking, sometimes at the same time every month or so. It can be pernicious, occurring six or more times an hour and providing no relief, as is typical with vomiting caused by a virus or food poisoning. Triggers include infection, stress and excitement. Episodes often last 24 to 48 hours, sometimes even longer, and patients can seem almost comatose during the most intense phase. Sedation is often part of treatment because it allows patients to recover and rehydrate.
The disorder typically surfaces in children ages 3 to 7, although cases have been reported in a 6-day-old infant and in adults. The incidence in the United States is unknown; one study in Ireland found that three in 100,000 children suffer from CVS, which disproportionately affects Caucasians.
Treatment is largely supportive and is aimed at preventing dehydration and reducing the severity of episodes or averting them. Between attacks, CVS patients are, like Bree, "perfectly fine," Leichtner notes.
Many milder cases, he said, are never diagnosed, and the disorder is often mistakenly attributed to a stomach virus. "It definitely needs more prominent attention" among physicians, he added, who may be unaware of the disorder.
Leichtner classifies Bree's case, which is complicated by reflux, as moderately severe. "The joy for me is watching her grow from age 7 to a college student and develop these coping skills - it's phenomenal," said Leichtner, who continues to treat her.
Bree says that she is better able to manage, although explaining the disorder remains difficult. She once went a year without an episode and says the attacks are now more widely spaced, occuring every few months, on average. She carries a letter from Leichtner that explains CVS and specifies the treatment she should receive. And she feels comforted that her campus is around the corner from Children's, where she recently weathered an attack.
Letting her daughter go away to college two hours from home was difficult. "We were really terrified, but it all came together and Bree is happy," Lisa Billiter said.
"At first I wasn't sure how college would be, but I think I'm doing really well," said Bree. "I've been determined not to let this get in the way of my life."
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