British Boy Can't Fall Asleep Without Fear of Dying

Boy suffering from Ondiine's Curse is OK in day, but on life support at night.

August 16, 2010, 4:46 PM

Aug. 17, 2010 — -- When Liam Derbyshire lays himself down to sleep, he might pray the Lord his soul to keep.

Without the help of a life-support machine to sustain his breathing, the 11-year-old boy might really die before he wakes.

During the day, the 11-year-old can consciously inhale and exhale, but at night, when consciousness fades away, his breathing stops.

Liam, who lives in Britain, has Central Hypoventilation Syndrome (CCHS) or Ondine's Curse -- a potentially fatal and incurable disorder that affects only about 300 children worldwide.

"When Liam goes to sleep, his brain forgets to tell his lungs to breathe," said Dr Gary Connett, a pediatrican and respiratory consultant from Southhampton General Hospital, who has treated the boy since infancy.

The boy already has outlived all medical expectations. His parents, who live in the town of Gosport, Hampshire, were told Liam wouldn't live beyond six weeks.

"'Every day the doctors are amazed at how fit he is," said his mother, Kim Derbyshire. "He has defied all the odds."

"We have been very fortunate with Liam that he has had the life that he's got," she told the Portsmouth News, which first reported the story. "We always wanted him to have as normal a life as we could give him. He's exceeded all expectations."

Plugged in to a life support machine at night to stay alive, the boy also carries a battery-operated ventilator in case he falls asleep in the car or on a plane.

The family has spent thousands of dollars on electricity bills and even has installed emergency equipment in case of a power outage. So far, all his care has been covered by Britain's National Health Service.

"But the human costs in terms of commitment to getting him home and managing him have been enormous," said Connett.

"It's an amazing story, and he is fortunate to have lived this long," said Dr. Ramon Cuevas, a pediatrician and assistant professor of neurology at Vanderbilt University's Children's Hospital.

"This is a very rare condition, and I have only seen one case of it," he said. "Only in one in a couple hundred thousand kids are diagnosed with it."

Cuevas' patient died at the age of 4.

CCHS is a rare disorder of respiratory control of the autonomic nervous system caused by a mutation in the PHOX2B gene, according to the National Organization of Rare Diseases (NORD).

In addition to breathing, that unconscious system regulates involuntary body functions including heart rate, blood pressure, body temperature and body and bladder control.

Lungs and airways are normal, and daytime breathing, which can be controlled through the conscious part of the brain or cortex, is generally unaffected.

The disorder often is called by its more dramatic name -- Ondine's Curse, named for the epic German nymph who falls in love with a mortal. He swears that his daily breath is a testimony to her love. But when the man is unfaithful, the king punishes him by making him remember all his bodily functions.

When the mortal falls asleep he forgets to breathe and dies.

Babies Sometimes Misdiagnosed With SIDS

Babies often are diagnosed with the disorder when they have tendency to turn blue while sleeping or show signs of respiratory distress. Some die all of a sudden and are misdiagnosed as victims of sudden infant death syndrome, according to Cuevas.

"Kids can slowly develop the disorder and have symptoms or heart manifestations, or stressors to the heart can be a signal," he said.

"Basically, there is no treatment," Cuevas said. "Nothing we can offer allows the child to breathe well. We treat the symptoms."

Children with the disorder are most vulnerable at night and rely on a ventilator, one much the same as those used during anesthesia. But long-term use of these machines can put children at risk for life-threatening infections and pneumonia.

Sometimes, a pacemaker is used to stimulate the diaphragm muscles instead of a ventilator, but it is more often used to treat adult patients.

"I've heard of kids who survived into teen-hood and even into adulthood," said Cuevas. "But it's tough."

As for Liam, he underwent a tracheotomy and wears a breathing tube.

"We have to keep a very close eye on him," said his mother. "He goes from being totally active and then his heart rate slows right down."

Ondine's Curse is actually a misnomer, probably to "to sell newspapers," and does not adequately describe children like Liam, according to Dr. Mark Dyken, a neurologist and director of the Sleep Disorders Center at the University of Iowa.

"While you are awake, you can initiate your own breathing and overcome the autonomic center," said Dyken. But a person cannot forget to breathe.

The name first was coined in 1962 to describe a syndrome that was manifested in three adult patients after high cervical and brain stem injury. Later, in 1970, three babies were diagnosed with the congenital disorder.

Sometimes the dorsal respiratory center similarly is damaged by a brain injury or stroke.

Liam was lucky, according to Dyken.

"His parents should be proud," Dyken said, "and it's smart the doctors immediately diagnosed it -- whatever you want to call it."

But breathing wasn't Liam's only problem,

At birth, he had a large neoblastoma, a virulent form of cancer that is now in remission, and his bowel was removed, according to Liam's doctor.

"Most children would have died of the cancer taking over their body cavity," said Connett. "Fortunately, what was left disappeared spontaneously."

Liam also has Hirschsprung's disease, a condition that affects the large intestine. He also must eat large quantities of food because his colon cannot properly absorb nutrients.

Doctors are hopeful that in two years, Liam might be able to be weaned off the night ventilator and use a face mask, one similar to those used for treating sleep apnea.

"He could live well into adulthood, and be employed and be an integral part of society," said Connett. "He's doing well."

Liam's family also gets support to hire a caregiver to look after him at night so his parents can sleep.

"We have to keep a very close eye on him," said Derbyshire. "He goes from being totally active and then his heart rate slows right down."

But Liam is "so full of life," according to his mother.

"He's constantly smiling and laughing," said Derbyshire. "He's very affectionate. He has all the normal traits of a lot of kids. Every day of his life is a bonus."

He is passionate about trains, and on his 11th birthday on Aug. 3 South West Trains let him ride next to the driver from his school in Fareham to London's Waterloo station.

"It's something he will never forget," said his mother. "He had a fabulous time. He was in awe. It's just his cup of tea. He wants to be a train driver when he grows up. But given his condition we don't know what he will be able to do. The trains have given him something else to think about. He forgets about any pain he might be in."

Liam agreed, telling the local newspaper, "It was really good. I had a really good day. I liked being on the platform and being a driver for the day."

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