Young girl finally to sleep peacefully after treatment for rare disease

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wwltv.com

Posted on November 20, 2012 at 6:27 PM

Updated Tuesday, Nov 20 at 6:56 PM

Meg Farris / Eyewitness News
Email: mfarris@wwltv.com | Twitter: @megfarriswwl

NORCO, La. -- When a young couple from Norco had their first baby, a nurse noticed something unusual about her breathing.

At two days old, a rare diagnosis changed their lives. Now, after eight years, technology offers promise that their little girl can grow up normally.

The Glore family happily has its hands full with four beautiful little girls, 2 to 8 years old. But now, imagine one child can never go to sleep, nap or even doze for moment without the fear of dying.

"As a baby, she would fall asleep in the car, at the table, anywhere, I mean, restaurants, church, anywhere we would go. So we stayed pretty isolated the first few months. We stayed home. We didn't go anywhere," said Samantha Glore, Elise's mother.

Samantha and Matthew's first born Elise is 8, and her life is about to change. Up until now every shut-eye moment, she had to be on a ventilator. While awake, her brain works normally, sending signals down the nerves telling the breathing muscles to contract so air flows in and out of her lungs.

But because of a genetic mutation before she was born, that signal from the brain doesn't work when she's asleep. Her doctor at Tulane diagnosed that she had a rare disorder called CCHS (Congenital Central Hypoventilation Syndrome) when she was two days old.

"In the usual situation, these children are picked up after near death experiences, when they've stopped breathing. And they suffer a lot of consequences of low oxygen levels in the brain and damage and injury," explained Dr. Michael Kiernan, a Tulane Pediatric Pulmonologist, who has only seen three cases of CCHS in his years at Tulane.

Now Elise is recovering from surgery. She is the first in the Gulf Coast region to have an Avery Breathing Pacemaker implanted.

Through tiny laparoscopic incisions, surgeons at Tulane hooked up a small device to stimulate those nerves that move her diaphragm, the muscle at the bottom of the chest cavity. In about a month, after she heals, they will turn it on and a small external device will transmit radio waves to stimulate her nerves. She'll be done with the ventilator.

"I know you hurt a little bit today, but are you excited about the new change that's going to come?" I asked Elise, who was in a pediatric ICU bed.

"Yes," said Elise, who still has the trach in her neck, so talking is difficult.

"Because your life's going to be more like, you get to do whatever you want to do?" I asked.

"Hmm hmm," she nodded yes.

"Did you tell your friends?" I said.

"Yes," said Elise, who efforts a smile through her postsurgical discomfort and pain.

Think about never being able to go to a slumber party, or go swimming because you have to keep that trach or tube in your neck so you can hook up the ventilator at night. Imagine having a nurse at your side at school all the time. Imagine growing up and the social issues.

"Elise is getting to the age where the trach is becoming an issue. It is, and no mother wants to see that. You don't want to see that, but kids are kids," said Samantha, who explains that her school friends are comfortable with Elise's condition, but new children stare at the band around her neck.

One day when Elise starts a family, each child will have a 50 percent chance of having CCHS. Her mother asks, who better than Elise to handle that? But by then, maybe gene therapy could change it all.

Elise is still healing from having the breathing pacemaker surgically implanted. In a month, doctors will turn it on. It is designed to last for life.

We will bring you that update when it happens.

This technology has been used for years in people with severe spinal cord injury.

For more on the devices and who is a candidate, click here or call 1-631-864-1600.

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