Respiratory System: Georgia S Emergency

Name: ______Date: ______

Respiratory System: Georgia’s Emergency

By LIZ RAPPAPORT

'Liz, you have to come to the hospital now," my husband, David, said in the office voicemail message that late April morning. "We're in an ambulance. ... Something happened to Georgia. She had some kind of seizure. I don't know. Just come."

My 3-year-old daughter -- who just days earlier was hosting a tea party for me and her dolls -- was in trouble. That's how this mystery begins.

Jeffrey Smith

I rushed from the office and grabbed a taxi to our local hospital in Brooklyn. "She's unresponsive to pain, to everything," David told me when I called him from the taxi.

Georgia's breathing had slowed to nearly a full stop, he said. The EMTs had jabbed her heel with a needle to gauge her responsiveness, he said. Nothing. They had then given her a shot of seizure medication. Still nothing.

I arrived through the swinging emergency-room doors to see my daughter's tiny feet on a gurney through a gap in the white curtains. At least a dozen doctors and nurses huddled around her, working to push a tube down her throat and get her started on a mechanical ventilator.

A few minutes later, the head ER doctor emerged from behind the curtains. "She's stable," she said.

"Will she be OK?" I asked.

"We think she's been seizing for a long time," the doctor said, her expression blank. "That means she's been without oxygen for a long while."

Questions, not answers, have defined our quest to understand what happened to Georgia ever since she nearly stopped breathing that morning. Despite the best efforts of the ER doctors and the subsequent attention of some of the most experienced and renowned specialists in New York City, the only certainty we are left with is that the human body in all its complexity can still operate beyond the understanding of medical science.

David was scanning the news on the computer in our bedroom that morning. I had already left for work. He has told the story hundreds of times since: It was about 7:45 when he heard a cough through the monitor we kept in our bedroom.

He checked on Georgia in her room, and she seemed fine as she slept. He heard another cough a few minutes later. This time, he found her sitting up in bed. He placed his hand on her stomach to check her breathing. It seemed slow, with an irregular rhythm, so he gave her a dose from an inhaler of asthma medicine. Georgia suffered from troubled breathing when she had a cold or a cough, and had been in the ER twice for what they call reactive airway disease -- or heavy wheezing due to constricted airways.

"Are you OK?" David asked her.

"I'm OK, Daddy," she answered, but her eyes weren't looking at him, but past him. He picked her up and stood her on the floor. She fell toward him. He called 911, and after an agonizing 20-plus minutes, the EMTs arrived. She was taking 12 breaths a minute, slow for a child her age, and staring blankly to the left.

In addition to the seizure medication, they gave her oxygen through a mask, but to little avail. When they reached the ER, the staff took an arterial blood gas test -- a measure of how well the lungs are moving life-sustaining oxygen into the bloodstream and carbon dioxide out. Her CO2 reading had reached a partial pressure of 95, dangerously far above the normal range of 35 to 45.

As the CO2 level rises, the body's pH balance is disturbed, becoming more acidic. If the body's pH drops outside the normal range -- 7.35 to 7.45 -- the nervous system slows and eventually shuts down, leading to coma and, if not reversed in time, death. Georgia's pH had dropped to 7.0, a key threshold. Below that, her 30-pound frame would have likely suffered more permanent damage.

After heavy doses of steroids and about eight hours on a ventilator that forced her to breathe at a fixed rate and volume, Georgia's blood chemistry returned to normal, and she began to awaken. By Thursday, she had her sneakers on, running through the halls of the hospital with her robe flapping behind her, waving her new magic wand and yelling "hocus-pocus" to make doctors and nurses disappear.

Medical professionals liken the look for causes to distinguishing between horses (the most likely culprits) and zebras (the rare outlier). "Georgia is ... a zebra," said Georgia's pulmonologist, the doctor spearheading the effort to find a diagnosis beyond acute respiratory failure -- a phrase that merely describes the event, rather than providing a cause.

We took Georgia home that Thursday night. We began taking turns watching her while she slept. Each day her speech got clearer and her eyes brighter. She didn't talk about what happened except for the Dora bandages covering her IV puncture and the presents friends had dropped off for her at the hospital.

My head ached from a constantly clenched jaw -- a result of stress. But I found comfort in my new mission: to amass the most complete folder possible on Georgia's medical history for her appointments with the specialists. I researched doctors online and traveled the city to obtain her medical records, nurses' notes, and digital copies of her scans and X-rays.

Over the next two weeks, I began to weave in some work covering credit markets for The Wall Street Journal. David returned to work at his law firm, and two weeks after that, I finally returned to the office. But now, it was the rare moment that we weren't thinking about Georgia. We feared a recurrence, and we wanted answers. Doctor visits became a normal part of our routine.

The pulmonologist, a cardiologist, a neurologist and a genetics specialist worked through a long list of possible maladies and syndromes that might explain what happened that day. Among the known "horses," her doctors have ruled out many horrible afflictions, many of them unknown to us.

"Has anyone in your family suffered from Ondine's Curse?" Georgia's neurologist asked at our first meeting, while taking down our medical history.

No, I said, not that, whatever it was, or anything else, as he went down the list.

X-rays taken that morning in the ER showed Georgia had not inhaled anything that was blocking her airways. And a CT scan ruled out a brain tumor. One oddity in Georgia's initial test results pointed doctors in the direction of a potential neurological cause: Her breathing continued to slow even though the carbon-dioxide level in her bloodstream was rising and the oxygen level was plunging.

The brain continuously monitors the level of these gases in the bloodstream. When either strays outside of normal range, the brain normally compensates by making the body breathe faster and harder -- hyperventilation. That's what happens in an asthma attack or when heavy exercise burns up lots of oxygen; you gasp and heave as the brain tells the body to suck in more air and blow out more CO2.

First we went to a cardiologist. If Georgia was chronically underbreathing from a neurological cause, a sonogram would show the thickened muscle of a heart that has to work harder to pump poorly oxygenated blood through the body. Her heart was "perfect," the doctor said.

Her pulmonologist had us videotape her sleeping to see if her breathing was spontaneously stopping and restarting at night -- a common sign of sleep apnea, which can be caused by large tonsils or chronic sinus problems. Her tonsils were of normal size, and her sinuses were clear, but the doctor thought it was worth a look at her sleep patterns. So one night, we set up a video camera and taped her for five-minute segments at regular intervals until morning. We were able to note that she snores mildly, and occasionally she did seem to register a particularly loud snort, then move and breath softly again.

An 18-Hour Test

Her doctor told us that the tape was too dark and her sleep movement too subtle for meaningful conclusions. So next, Georgia underwent an overnight sleep study at a New York hospital to test her for seizure disorders; the EEG, which measures electrical activity in the brain, lasted 18 hours.

"Stop gluing those things to my hair," Georgia told the technician who spent two hours attaching about 40 wires to Georgia's scalp while she stared blankly at the "Winnie the Pooh" video I had brought to distract her. The tests were negative, crossing sleep apnea and seizure disorders like epilepsy off the list of possibilities. The neurologist noted that once in a while, people have a seizure and never have it again.

An MRI taken in late May of Georgia's head and neck ruled out any abnormality in the growth of her brain stem or spinal cord, so nothing was physically pressing on the nerves that control her breathing.

Georgia's neurologist warned us that the MRI answered one mystery with another. The scan revealed the presence of what he called UBOs -- for "unidentified bright objects." These are spots of high density in the brain, and the neurologist believes they may have been caused by what happened that morning, rather than the cause of that morning's episode. UBOs are unusual in children, and more typically indicative of damage to the brain caused by spinal meningitis, Lyme disease and certain other illnesses -- none of which Georgia has had. We will go back for another MRI to check on these in one year.

We consulted an allergist because Georgia suffers from severe allergies to several common culprits: peanuts, tree nuts, sesame, soy and eggs. Even before her breathing emergency, I had grown accustomed to the constant danger that she might eat something at preschool or in the playground and have an anaphylactic reaction that makes her throat swell shut. I've come to terms with that threat because I understand it, and I've injected her with an EpiPen, a shot of adrenaline, and seen the swelling disappear in seconds.

Her allergist checked her blood for the proteins that react to allergens and reviewed her diet of the night before the emergency. Based on the results, he ruled out the possibility that the episode was caused by her allergies or her occasional bouts of asthma.

We knew what had happened, but we still didn't know why. In the summer months, with other avenues of inquiry exhausted, that question about Ondine's Curse lingered.

Ondine's Curse is a neurological disease that hinders the automatic function of breathing and is most often observed in infants. The disorder -- also known as congenital central hypoventilation syndrome, or CCHS -- was first identified in 1970 and is associated with sudden infant death syndrome, or SIDS.

Georgia's neurologist put us in touch with a genetic specialist. In early August, that doctor sent a vial of her blood to a lab in Chicago to find out for $400 if Georgia has a mutation on the PHOX2B gene, which is associated with this disorder.

People with the mutation often must rely on a ventilator, though recent research has shown it can also be the cause of infrequent or rare lapses in breathing, like Georgia's. With more genetic testing, the number of people known to carry the mutation is growing monthly, but recent research suggests the mutation exists in one out of every 50,000 people.

The name comes from German mythology. When the sea nymph Ondine braved losing the gift of everlasting life to marry a mortal man, her new husband told her his "every waking breath" would be his "pledge of love and faithfulness." That proved his undoing, for when Ondine caught him in the arms of another woman, she cursed him: Should he ever fall asleep, he would stop breathing and die.

In late August, the lab results came back. Georgia lacked the mutation for Ondine's Curse.

Nearly every parent I know has checked on their child's breathing -- a compulsion with an infant, seemingly so fragile, and with older children when a cough sounds like a sinister threat. Their fears are almost always dispelled.

My fear is compressing as time passes. It's heightened at night and mellower during the day. When I get home from work and Georgia and I go for a walk, I want to declare April 29 a phantom day, a hallucination that I can put behind me.

All Through the Night

Come night, vigilance returns. My husband and I took turns in bed with Georgia until late September, when we bought a video monitor to help us move back into our own rooms. We woke with nearly every twitch she made to put our hands on her stomach and count her breaths.

Thus far, I've reported she has sat up in bed with a start, that her breathing occasionally slows, and that she has coughed a lot in the months since "the event." Now, we check on her frequently throughout the night. When she has a bad cold, one of us is back in bed with her.

Unlike other parents, I no longer have the luxury of telling myself I'm being neurotic.

"She's still a zebra," Georgia's pulmonologist said at our last visit with him.

And I am left to bear my own variation of Ondine's Curse, wondering if I'll ever again sleep a full night.

Answer the following questions:

1. What is Ondine’s curse? What is it associated with?

1. What is the cause of Ondine’s curse?

1. Where does the name come from? Explain why.