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This Case Couldn't Wait Six Months

By Sandra G. Boodman
Special to The Washington Post
Tuesday, December 16, 2008

From his hotel room in Kansas, 1,000 miles from his Northern Virginia home, Jason S. Nelson, a human resources manager on a three-week business trip, struggled to control the helplessness he felt listening to the panic and exhaustion in his wife's voice.

"Something is really wrong," Anna Nelson told her husband during one of their increasingly frequent telephone conversations in April 2005. For the previous two weeks, Anna Nelson had been administering breathing treatments round-the-clock to 4-month-old Matthew. Their son had been battling an asthma-like condition for several weeks, the aftermath of a cold he caught from his 2-year-old brother, JJ.

Anna Nelson had shuttled the baby to the pediatrician's office every few days, seeing a different doctor in the large group practice each time. But Matthew seemed unimproved, even though blood tests found nothing wrong and a chest X-ray had shown no sign of pneumonia, only a heart that was slightly large but within the normal range.

The pediatricians didn't seem worried that the nebulizer treatments weren't working. At Anna Nelson's request, they had referred the baby to a lung specialist whom they could not afford because he did not accept the family's insurance. Now the triage nurse was balking at calling a specialist at Children's National Medical Center, which was in their health plan. Without a referral, Anna Nelson told her husband, the wait for an appointment was six months -- and Matthew couldn't wait.

Jason Nelson assured his wife he would handle it. After a tense exchange with the pediatrician's office, Matthew was given an appointment at Children's Hospital's outpatient clinic in Fairfax the following week.

It was Jason Nelson's insistence and Anna Nelson's instincts, coupled with a serendipitous appointment on a day that the hospital's chief cardiologist, Gerard Martin, happened to be seeing patients at the Fairfax office, that helped avert almost certain catastrophe. In an unusual coincidence, Martin had diagnosed the same problem in his own nephew: a malady so rare and lethal it is typically discovered during an autopsy.

Until that day, Matthew, born at Inova Fairfax Hospital, had seemed like a pretty normal baby. He went home three days after his November 2004 birth, a day later than normal because he had had a seizure during circumcision. Doctors kept him for observation and decided the seizure was probably a reaction to the anesthetic.

"He was fine, a healthy baby," his father recalled. But unlike his brother, Matthew seemed to cry uncontrollably beginning at about 1 month. "He was really inconsolable," said Jason Nelson, who was home with the baby at the time. "I thought maybe he missed his mother."

Their pediatrician thought the incessant crying might be caused by acid reflux and prescribed medication. After several weeks, the crying largely ceased.

When he was 3 months old, Matthew began wheezing. The pediatrician diagnosed bronchiolitis, an inflammation of the small passages in the lungs caused by a virus. Bronchiolitis can be a precursor to asthma, which is common in Anna Nelson's family. The doctor told her Matthew would probably have the airway disease when he got older and prescribed medicine to be administered in aerosolized form through a nebulizer. She told Anna to bring Matthew back if he didn't get better.

Several pediatricians and changes of medicine later, the Nelsons were sent to the hospital for blood tests and a chest X-ray. The radiologist noted that the baby's heart was slightly enlarged, a finding that disturbed Anna. Doctors, she said, assured her it was nothing to worry about.

Her husband departed on his long-planned business trip, and Anna was left at home, juggling an active 2-year-old and a sick 4-month-old who seemed to be getting worse: Matthew wasn't interested in eating, he wheezed continuously and she was trekking back and forth to the pediatrician every other day.

"I was exhausted and getting maybe two hours of sleep at a time," she recalled, saying that she "lost it" when the office balked at telephoning Children's for an appointment. "I called Jason and said, 'I don't know what to do and I need help.' "

Initially, the visit to the Fairfax outpatient center seemed routine. The family saw a nurse practitioner, then a pulmonologist, both of whom agreed that the nebulizer treatment wasn't helping. After listening to the description of Matthew's illness and scrutinizing the X-ray that had ruled out pneumonia, the pulmonologist said she wanted Martin to take a look at the baby.

Anna Nelson remembers that the cardiologist chatted briefly with them, then "just stared at the baby for two minutes. I thought, well, that's weird." Jason Nelson remembers that Martin asked three questions: Did Matthew scream a lot when he came home? Did the screaming stop after a while? Is he getting better or worse?

Martin then scooped up the baby, saying he'd be back shortly. Martin recalls he was all but certain he knew what the problem was, but when he confided his suspicion to his colleagues before tests confirmed it, "Everyone looked at me like I was a little bit insane."

Less than 10 minutes later he reappeared, looking somber but calm.

"I'm going to be blunt," he told the Nelsons, according to Jason's recollection. "Your son does not have asthma. He's had a heart attack and is in heart failure, and he's going to have surgery within 24 hours." Matthew had "cardiac asthma," wheezing associated with heart failure. The seizure he'd had during circumcision was actually a heart attack, Nelson said. Martin explained that a team was en route to whisk the baby to Children's Hospital, where Richard Jonas, the cardiothoracic pediatric surgeon who had operated on Martin's nephew for the same problem, would try to save the baby's life.

"It was just unbelievable," Jason Nelson recalled. Accompanied by a physician, Anna Nelson climbed into the ambulance next to her baby, who was strapped to a gurney. Sirens shrieking, the ambulance hurtled down Route 50 bound for the hospital. Jason Nelson numbly followed in the car.

Matthew's problem, diagnosed by echocardiogram and apparent on a second X-ray, was precisely what Martin had suspected: an anomalous left coronary artery from the pulmonary artery, or ALCAPA. The extremely rare condition occurs early in fetal development when the left coronary artery is connected to the pulmonary artery, which carries oxygen-poor blood, instead of to the aorta. Deprived of sufficient oxygen, the heart starts to die, leading to a heart attack, according to the federal government's Medline information service.

Left untreated, about 90 percent of babies born with the condition do not survive their first year. Of the 500 pediatric heart patients seen annually at Children's Hospital, only two or three have ALCAPA, according to Martin. "With prompt treatment, these kids can have excellent outcomes," he said.

Common symptoms include uncontrolled crying, often mistaken for colic, which occurs about the same age. The reflux the baby was experiencing was actually angina, chest pain that occurs when the heart isn't getting enough blood, Martin said. And that slightly enlarged heart? That, Martin said, was the tip-off, along with the persistent wheezing. Both should have triggered a prompt referral to a cardiologist, he said.

"Babies may wheeze with a respiratory infection, but they should get better within a few days," Martin said. The second X-ray showed that Matthew's heart was 30 percent bigger than it should have been.

While he was being readied for surgery, Matthew had another heart attack, Jason Nelson said. The couple was told their son had an 80 percent chance of surviving the 6 1/2 -hour operation, in which the artery was removed from its incorrect location and connected to the aorta.

The baby pulled through, but there were other worries: about postoperative infection, which Matthew escaped, and the inevitable long wait to see whether he would develop normally.

Those concerns have been laid to rest, too. "He's a loud, typically obnoxious 4-year-old who plays football," his father said. Matthew now sees Martin once a year; he has no restrictions and seems unscathed by his ordeal.

"There is no doubt in my mind that Dr. Martin saved his life," Jason Nelson said. "We were one of the lucky ones."

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