A bawl from the heart

From his hotel room in Kansas, about 1,600 kilometres from his suburban Washington home, Jason 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 two weeks, Anna 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 had shuttled Matthew to the paediatrician's office every few days but his condition wasn't improving.

The paediatrician didn't seem worried that the nebuliser treatments weren't working.

At Anna's request, they had referred the baby to a lung specialist whom the Nelsons could not afford because he did not accept their insurance.

Now the nurse was baulking at calling a specialist at Children's National Medical Centre, which was in their health plan. Without a referral, Anna told her husband, the wait for an appointment was six months — and Matthew couldn't wait.

After a tense exchange with the paediatrician's office, Matthew got an appointment at Children's Hospital's outpatient clinic in suburban Fairfax, Virginia, the following week.

It was Jason's insistence and Anna'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.

Matthew had gone 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 anaesthetic. “He was fine, a healthy baby,'' his father recalled.

But Matthew seemed to cry uncontrollably beginning about one month. “I thought maybe he missed his mother.''

Their paediatrician, thinking it might be caused by acid reflux, prescribed medication. After several weeks, the crying largely ceased. At 3 months, Matthew began wheezing.

The paediatrician diagnosed bronchiolitis, an inflammation of the small passages in the lungs caused by a virus.

Several paediatricians 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, which disturbed Anna.

Doctors, she said, assured her it was nothing to worry about.

Jason departed on his business trip, leaving Anna to juggle an active 2-year-old and a sick 4-month-old who seemed to be worsening. Matthew wasn't interested in eating and wheezed continuously; Anna was going to the paediatrician every other day.

“I called Jason and said: ‘I don't know what to do and I need help.'''

At the Fairfax outpatient centre the next week, the pulmonologist asked Martin, the cardiologist, to look at the baby. Jason remembers Martin asking 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 would be back shortly.

Less than ten minutes later he reappeared, looking sombre but calm. “I'm going to be blunt,'' he told the Nelsons, according to Jason's recollection. “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 had had during circumcision was actually a heart attack.

Matthew's problem, diagnosed by echocardiogram and apparent on a second X-ray, was what Martin had suspected: an anomalous left coronary artery from the pulmonary artery, or ALCAPA.

The extremely rare condition occurs early in foetal 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 per cent of babies born with the condition do not survive their first year.

Of the 500 paediatric 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.

Symptoms include uncontrolled crying, often mistaken for colic, which occurs about the same age.

The baby's reflux was actually angina, chest pain that occurs when the heart isn't getting enough blood, Martin said.

The slightly enlarged heart, along with the persistent wheezing, was the tip-off, Martin said. Both should have triggered a referral to a cardiologist.

Matthew had another heart attack while being readied for surgery, Jason said.

The couple was told their son had an 80 per cent chance of surviving the six-and-a-half-hour operation.

There were other worries, too, about postoperative infection and the inevitable long wait to see whether he would develop normally.

Those concerns have been laid to rest. “He's a loud, typically obnoxious 4-year-old who plays football,'' his father said.