By Sandra G. Boodman
Special to The Washington Post
Monday, January 17, 2011; 7:20 PM
Jennifer Kahler was having trouble understanding what the doctor was telling her.
The clinical psychologist had spent a quiet July 4 weekend at her Northern Virginia home with her husband and two small sons when a pediatric cardiologist she had never met called with frightening news. The specialist had just reviewed test results on 6-week-old James, and she told his mother he needed to be brought to Inova Fairfax Hospital immediately.
"I kept saying to her, 'Now? You mean right now?' " recalled Kahler, who remembers being baffled and frightened by what the specialist, Margaret Bell Fischer, was saying.
Fischer was adamant: "Now," she told Kahler firmly.
The doctor's sense of urgency was jarringly at odds with what Kahler and her husband, Roger, had been told in the weeks after James was born at another hospital. The baby had some mild breathing problems and had been sent home with an apnea monitor. To Kahler and her husband, the monitor, which tracked James's respiration, seemed like a gigantic pain: It kept emitting an ear-splitting shriek, but each time they checked, nothing seemed to be wrong with James. A visiting nurse also found nothing awry.
Less than two weeks before that phone call from Fischer, the alarm sent the family to the emergency room, where a doctor again found nothing wrong with the baby's heart or breathing.
But the finding that prompted Fischer's call showed the problem was not a false alarm. "It was quite concerning to me," she recalled. Without prompt treatment, she worried, the baby might die.
Only weeks later did Kahler discover that two things she had observed in the first days of her son's life were probably subtle clues to his undiagnosed condition.'Like a little beet'
James was born nearly a month early, on May 29, 2009, and spent the first eight days of his life in a neonatal intensive care unit being treated for jaundice as well as apnea of prematurity, a common and usually temporary condition in preterm babies.
This form of apnea is characterized by slowed or stopped breathing and is usually not a problem unless the episodes last longer than 20 seconds. Most preemies outgrow it, but in some cases apnea can indicate a heart or lung abnormality or an infection. As a result, some infants are sent home on an apnea monitor, which tracks breathing.
But false alarms are common with these devices, according to the American Academy of Pediatrics, and can be triggered by the baby's movements or incorrectly placed equipment. Parents are told not to assume the alarms are false but to check the baby, looking particularly for a bluish cast to the lips and a slowed heart rate, which mean the infant is not getting enough oxygen.
James was sent home on a monitor as a precaution. His mother said she immediately noticed that he was different from his brother, who is nearly four years older: He slept almost all the time and his skin tone was very red, "like a little beet."
Kahler doesn't remember if she mentioned his color, but at his first checkup she did ask the pediatrician about his constant sleeping.
"Be happy he's sleeping," the doctor advised. Still, Kahler thought it was odd, especially when she spent time with a friend whose baby was the same age as James and spent a lot more time awake. Even friends remarked about how much James slept.
Still, he seemed to be growing well, although the apnea monitor was driving his parents crazy. The first week James was home, Kahler recalled, it would go off as they were changing him, when a lead detached from his chest. Every time it went off, it would indicate a high heart rate, but James seemed to be breathing normally. Sometimes he slept through the alarm.
When James was 2 weeks old, Kahler was grocery shopping when she received a frantic call from her husband. He had to scream into the phone to be heard over the shriek of the monitor and James's loud crying. Kahler abandoned her cart in the middle of the store and raced home; by the time she arrived, James seemed fine.
Kahler called the pediatrician's office; because James looked normal and was eating, a nurse reassured the parents and suggested the Kahlers ask the pediatric cardiologist about it at a routine appointment scheduled for the following day. The parents figured the monitor was malfunctioning and shut it off for a few hours.
On June 16, the cardiologist performed an EKG on the baby. Previous tests had found no structural problems with his heart, while the EKG showed a normal heart rate but a somewhat odd-looking rhythm. Because Kahler has a mild heart rhythm disturbance that was detected after the birth of her first child, the cardiologist told the parents he thought James might have the same problem. He gave them a second kind of monitor, to capture the baby's heart rate when the apnea alarm sounded.
"This was easier said than done," Kahler recalled. "James would wiggle and squirm and cry," frightened by the noise of two alarms. The second monitor was as balky as the first: Kahler once made seven consecutive attempts to transmit its data, but the company kept saying it could not be read because of excessive interference.
Soon after they were given the second monitor, Kahler, desperate for a social outing, arranged to go to a friend's house with James. She was at a Starbucks drive-through when the apnea alarm began shrieking. Panicked because she couldn't see James in his backward-facing car seat, Kahler sped off without her drinks, nearly hitting another car as she pulled over. As she jumped into the back seat, the alarm stopped, just as she realized she had set the childproof door locks and couldn't open the back doors.Turning point
On the evening of June 26, Kahler called the pediatric cardiologist because the apnea alarm was sounding constantly, even though James seemed fine. The cardiologist told her to take him to a nearby emergency room. By the time they arrived, the alarm had stopped. Several hours and a number of tests later, they were sent home; the doctor couldn't find a problem.
A few days later the cardiologist told the Kahlers he wanted James to wear a Holter monitor, a device that tracks cardiac activity over a 24-hour period. "I could hardly change him," his mother recalled, because eight wires for the monitors were affixed to his tiny body.
The cardiologist told the couple that he was going to be out of the country and that the Holter monitor data would be evaluated by Fischer, an electrophysiologist who specializes in disorders of the heart's electrical system.
Fischer said she took one look at the Holter data and was instantly alarmed. It showed the baby's heart rate was as high as 360 beats per minute - 150 is normal - and that he was having prolonged episodes of arrythmia, an irregular heartbeat. Fischer believed the combination posed a grave danger: possible heart failure and death.
James's problem, she realized, was superventricular tachycardia and Wolff-Parkinson-White (WPW) syndrome, an abnormally rapid heartbeat that occurs as the result of an extra electrical pathway or circuit in the heart. Some people with the syndrome, which is usually present at birth, have no symptoms, while others first show signs in adolescence or adulthood, according to the American Heart Association.
The syndrome, named after the physicians who first described it in 1930, can be hard to diagnose in infants. "A newborn can't tell you that his heart is racing," said Fischer, adding that some babies with the condition are unusually irritable, or lethargic or sweat excessively.
James spent five days at Inova Fairfax Children's Hospital, where he was given drugs to slow his heart rate; he continues to take medicines three times per day. Before he enters kindergarten he will likely undergo a catherization procedure called an ablation, which is designed to permanently disconnect the abnormal electrical pathway; in 95 percent of cases, Fischer said, ablation cures the problem, eliminating the need for drugs.
Shortly after James started taking medication, his mother said, his beet-red color disappeared, along with his excessive sleeping. Fischer said both could have been signs of his underlying disorder.
Kahler and her husband say that they felt "pretty horrible" when they thought of the times they had turned off the monitor because they believed it was malfunctioning.
"Of course, we had been taking him to doctors . . . but just never thought that the alarms actually meant something because he seemed okay," Kahler recalled. "For both of us, there were a lot of what-ifs: What if we had ignored it for too long and he went into heart failure?"
Had James not developed apnea of prematurity, which required him to be on a monitor, his parents say they might never have known he had a potentially lethal heart problem.
Now a rambunctious 20-month-old, James shows no signs of those rocky first weeks. "He's done quite well," Fischer said. "He's very lucky."
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