Breaking Ondine's Curse: pacemakers remind body to breathe

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The act of breathing is one of the most fundamental processes that helps sustain life.

It's a process so automatic that most of the time, people are unaware they're doing it.

But what happens if the urge to breathe doesn't come naturally?

It's a rare, but serious, problem faced by a handful of people across Canada.

The condition, called congenital central hypoventilation syndrome and nicknamed Ondine's Curse, can be extremely dangerous because afflicted individuals lack the natural impulse to take breaths or have a seriously impaired impulse to do so. This means they are often unaware that they are lacking oxygen.

Unless they consciously remember to breathe, they are at risk of severe oxygen loss and a slew of related health problems or death.

As a result, people with congenital central hypoventilation syndrome, also referred to as primary alveolar hypoventilation, tend to be most vulnerable when they are sleeping.

Treatment options for the condition have traditionally been few. Some patients have had phrenic nerve pacemakers installed in their necks to send a signal to the diaphragm to contract.

Others are hooked up to a ventilation machine for some or all of the day and night, which affects their quality of life and is linked to increased incidence of pneumonia and other infections.

Now, it seems that is poised to change.

In November, a team of doctors performed a unique procedure on Christina Hamann, a 50-year-old Kitchener, Ont., resident.

It was the first time in North America and only the second time in the world that doctors installed a pacemaker in the diaphragm of a patient suffering from congenital central hypoventilation syndrome. The device works by continually stimulating the diaphragm to contract.

"It's a release from being imprisoned by machine day and night," said Roger Goldstein, who is Ms. Hamann's physician and head of the respirology division at West Park Healthcare Centre in Toronto.

He said the procedure will likely become the prevailing standard of care for people like Ms. Hamann. But doctors also hope that the procedure's success means they will be able to apply it to patients with other conditions that interfere with breathing, such as amyotrophic lateral sclerosis (ALS).

"It's a huge benefit to get off that ventilator," said Raymond Onders, director of minimally invasive surgery at University Hospitals Case Medical Center at Case Western Reserve University in Cleveland, who helped develop the procedure.

Although Ms. Hamann is only the second person to undergo the procedure to treat Ondine's Curse, it has already been successfully performed on spinal cord injury patients, who can't breathe without assistance. In fact, Dr. Onders said he installed a pacemaker in actor Christopher Reeve, who was the second person in the world to have the procedure done.

"We've actually done a lot of spinal cord injury patients since then," Dr. Onders said.

Now, Ms. Hamann is back home in Kitchener and only needs to be on a ventilator at night.

Once her body recovers and adjusts to the new system, doctors anticipate she will be able to be off ventilation completely.

"It's going to be a big change," she said in an interview. "If I didn't have this [procedure] I wouldn't be around."

Ms. Hamann was diagnosed with congenital central hypoventilation syndrome in her teens, after suffering from seizures that were, for a time, thought to be a symptom of epilepsy.

The condition is often referred to as Ondine's Curse after the myth of the water nymph Ondine and her lover, who promises that his every waking breath will be a testament of his love. After he is unfaithful, Ondine curses him so that he will forget to breathe if he falls asleep, which he eventually does.

When first diagnosed, Ms. Hamann was under the care of an innovative physician who installed phrenic nerve pacemakers in her neck - electrodes that send a signal to the diaphragm to contract.

But two years ago, the pacemakers began to malfunction and Ms. Hamann developed severe heart failure. She was put on a ventilator full-time.

Then, Dr. Goldstein, who is also a professor of medicine at the University of Toronto, heard Dr. Onders speak at a conference about the new procedure. He approached Dr. Onders, who agreed to oversee the procedure if an Ontario-licenced physician was willing to perform it.

They connected with Allan Okrainec, a minimally invasive gastrointestinal and abdominal surgeon at Toronto Western Hospital, who was excited by the opportunity and agreed to perform the procedure.

"It really is a good example of collaboration across institutions," Dr. Okrainec said. "It's obviously life-changing. You're really transforming someone's life."

Now that she's had the procedure, Ms. Hamann can live independently and hopes to eventually return to work as a dietary aid at a Kitchener retirement home.

Before, she faced the prospect of life hooked up to a ventilation machine 24 hours a day.

Now, she looks forward to cooking, visiting with nearby family members and simply being able to go outside free of a cumbersome machine.

"I'm very grateful," Ms. Hamann said.

"There are a lot of worse conditions and I thank the Lord I have something that keeps me alive."