Georgia mom rallies to help newborn born with rare breathing syndrome

Mandy and Christian Jones have spent their first two and a half months together as mother and son in Children's Healthcare of Atlanta, living hour by hour, sometimes minute by minute. 

Christian Jones was born with a rare syndrome that causes him to stop breathing during sleep. (Jones)

It's hard, Jones says.

"Every day is a struggle, every day is a milestone," she says.  "Once you make it to a week, that's a milestone."

Christian, Jones' second child, was born August 17, 2019.

"Every day is a struggle, every day is a milestone."

— Mandy Jones, Christian's mother

He looked perfectly healthy.

Then, she heard him breathe.

"I had just had him, and they laid him on my chest," Jones remembers.  "I don't think a baby straight out of the womb should sound like a 50-year old man sleeping."

Christian Jones was born with a rare syndrome that causes him to stop breathing during sleep.

"I don't think a baby straight out of the womb should sound like a 50-year old man sleeping."

— Mandy Jones, Christian's mother

The Hart County mom says her delivery team reassured her Christian was okay, and sent them home.

But, she says, he didn't look okay.

"You could see all the bones in his neck," she says. "You could see all his ribs. Everyone kept saying, 'He's fine.'"

"You could see all the bones in his neck. You could see all his ribs. Everyone kept saying, 'He's fine.'"

— Mandy Jones, Christian's mother

But within days, Jones says, it became clear Christian wasn't fine. 

So, she rushed him to the emergency department at Children's Healthcare of Atlanta.

"They said, 'Has he breathed like this the entire time he's been alive?'" Jones says.  "And I said, 'Yeah.'"

A blood test eventually confirmed the team's fears.

"You could see all the bones in his neck," she says. "You could see all his ribs. Everyone kept saying, 'He's fine.'"

Christian was diagnosed with congenital central hypoventilation syndrome, or CCHS. 

Children's Healthcare Pulmonologist Dr. Ajay Kasi says, if you've never heard of CCHS, there's a good reason for that.

"This is extremely rare," Dr. Kasi says.  "We only know there are about 1,000 individuals throughout the world, who have this condition, and, currently, there is no cure for this condition."

"It's really, really hard.  It's a whole new life change."

— Mandy Jones, Christian's mother

Mandy Jones says the news hit her family hard.

"It was, like, 'What did I do wrong?'" Jones says, her voice cracking. "And, it's nothing I did wrong."

Christian's brain will sometimes "forget" to tell his body to breathe, especially when he's sleeping.

So, he's on a ventilator, and likely will be, at least for a couple of years.

Christian Jones of Hart County, Georgia, was born with a rare syndrome that causes him to stop breathing during sleep.

"And, it's really, really hard," his mother says. "It's a whole new life change."

The ventilator, Dr. Kasi says, will keep Christian's breathing stable.

"When children get a little bit older, they could potentially get their tracheostomy, or breathing tube, removed, by using mask ventilation called BiPAP," he says. "It's somewhat like a sleep apnea machine."

Christian may eventually also qualify for a surgery to implant electrodes along his diaphragm, that would work like a pacemaker to regulate his breathing.

Christian Jones of Hart County, Georgia, was born with a rare syndrome that causes him to suddenly stop breathing during sleep.

That surgery typically isn't performed until a child is in preschool or older.

Mandy Jones says her goal is to get Christian to the point he can go on the BiPAP.

Then, she hopes, the machine will get him to the point they can do the diaphragm surgery.

They're getting there, she says, taking it day by day.

"But we're making it," Jones says.  "We've made it to two months.  I still have him."