Saving Meghan(20)

Zach read the lab reports somberly before exhaling a weighty sigh. “I hate breaking hearts first thing in the morning, but let’s start our rounds with the Sperlings,” he said.

The team of doctors followed Zach down a brightly colored hallway adorned with fanciful murals, but the astringent odors, harsh lighting, and gleaming linoleum made it impossible to disguise that this was the place sick kids went to get well. At least that was the goal, each and every time. It did not always turn out that way, and Zach, and Dr. Sayre, and any resident or nurse working in pediatrics would attest to how personally they took each loss or difficult diagnosis, how deeply it hurt. On this floor, more than most, doctors and nurses openly shed their tears.

Baby Sperling’s hospital room was in the neonatal intensive care unit, accessible only through secure double doors at the far end of the pediatrics floor. There were two rows of incubators occupying the wide-open space, about half of which had babies on ventilators, Baby Sperling among them. Zach checked in on the infant with the NICU nurse before making his way to a small room with a twin bed and an armchair that could recline almost flat. A pile of blankets heaped in a corner of the room indicated that the mom and dad had once again spent the night. Both parents had the beleaguered look of soldiers returning from combat.

Baby Roger Sperling had appeared healthy at birth, and his two very proud first-time parents couldn’t wait to take him home. But an attentive neonatal nurse had noted that the baby was having some trouble breathing, with periods of blotching and cyanosis, a bluish tinge to the skin that signaled inadequate oxygenation of the blood. At other times, he seemed robust and healthy. When these episodes continued, it seemed prudent to intubate the infant and transfer him to the neonatal ICU.

Zach had deferred the case to an expert team of intensivists, but all were stymied. An ENT got a good examination of the infant’s throat but could find no anatomical obstruction of the airway, such as laryngomalacia, in which the airway fails to develop normally. X-rays ruled out pneumonia, and fluoroscopy showed that the diaphragm appeared to work normally, helping to expand the lungs. Blood cultures were negative for infection. Extensive testing for some sort of rare metabolic disturbance turned up nothing. Baby Sperling had two CAT scans of the brain, looking for neonatal hemorrhage, stroke, or some peculiar congenital malformation.

A neurologist performed a nerve conduction test and a needle examination of the baby’s muscles to see if that could explain the breathing trouble, but all was normal. A cardiologist found nothing wrong on an echocardiogram but suggested a cardiac catheterization might be necessary at some point.

Roger Sperling was, by all accounts, a very healthy-looking infant. A few weeks ago, Dr. Sayre, who was doing her rotation in the NICU, had casually probed Zach for his thoughts. Why couldn’t they wean him off artificial ventilation?

The only thing Zach had noted on his examination was that the baby’s pupils were unequal and not very reactive to a flashlight stimulus. Certainly nothing dramatic. But Zach knew that much of diagnosis was in the history, and he was able to get all the information he needed by asking the ICU nurse a simple question: When exactly did Baby Sperling have trouble breathing?

“The neonatal nurse told me that Roger seemed perfectly fine whenever he was awake, but he would tire easily and fall asleep,” Zach explained to Baby Sperling’s worried parents as they awaited his final verdict.

The mother nodded anxiously, biting at her lip, her body tense as if in anticipation of a coming car crash. Instinct must have told her that in another minute, she’d have confirmation their lives would never be the same.

“The nurse told me when he falls asleep, he begins to turn blue, which is why I ordered a special genetic test.”

Zach had exceptional recall, and when the NICU nurse discussed the timing of Baby Sperling’s breathing troubles, he remembered one of his index cards detailing symptoms from a genetic mutation in the PHOX2B gene.

“I’m sorry to say that Roger has what we call congenital central hypoventilation syndrome.”

The parents’ faces were blank. They’d never heard of the condition; no specialist had mentioned it as a possibility. Zach gave them the background.

“CCHS is extremely rare. Only had a handful of cases at White since I’ve been in practice,” Zach said. “In these cases, the brain stem center that controls respiration fails to develop. Affected babies don’t respond to rising carbon dioxide in the blood, which normally triggers breathing by acting on the brain stem respiratory center.”

Zach decided to hold off on mentioning the disease’s former name: Ondine’s curse, which sounded even more ominous, though it was named with good reason. In German mythology, Ondine was a nymph, a water goddess, who fell in love with a mortal. The mortal swore that his every breath was a demonstration of his love, but as is so often the case, he proved unfaithful. Ondine punished him by making him remember all his breaths. He was fine so long as he remained awake, but when he fell asleep, he stopped breathing and died.

Baby Sperling had the same problem. When he was awake, his brain remembered to breathe; when he slept, it did not. He would need a ventilator every time he fell asleep, and the condition was permanent; not something he’d outgrow. But the good news, which Zach shared with the shattered parents, was that Baby Sperling would be fine so long as he was awake. He’d require a tracheotomy, of course, and arrangements would need to be made for him to have a ventilator at home, as well as a backup generator. He’d need psychological counseling and social support, speech and respiratory therapy, home health visits and such. Despite his tremendous obstacles, Baby Roger would get to live a relatively normal life during all his wakeful hours. Zach made sure he emphasized that last point to the parents.