Yukon family seeking help for baby with rare genetic disorder

A Yukon couple is reaching out to the community for support after their 7-month-old baby received a rare diagnosis, they told News 9 last week. 

Despite having Congenital Central Hypoventilation Syndrome, baby Elizabeth is an extremely happy baby. Her smile lights up whenever anyone new walks into the room, her family shared. 

"What she has is called CCHS. When she's asleep, she's not breathing enough or is not breathing at all. So, she's building up all this carbon dioxide which affects all the parts of her body,” her dad Donnie Richards explained. 

However, it took some time to get the diagnosis. Elizabeth’s parents said they had to push for a sleep study and genetic testing. 

CCHS is so rare that hospitals usually don’t check for it, he and his wife Emily shared. 

Her parents said the time they spent waiting could have cost Elizabeth her life. 

"The sad reality is there's probably a handful of children who don't make it through the night and it's probably attributed to something like SIDS, not knowing that it's actually a very specific condition that they have,” Donnie stated. 

With Elizabeth’s diagnosis came a tracheostomy to help her breathe when she’s sleeping – a difficult but necessary decision her parents had to make. 

"A lot of time, we're asking them to make medical decisions about things they've never even heard of, like tracheostomies and ventilators at home, G tubes and things like that. So, we recognize that there's a lot of grief that these families are going through,” said Dr. Amanda Page, who works in Complex Care for the Department of Pediatrics at OU Health. 

Dr. Page said she is also one of Elizabeth’s doctors. 

As Elizabeth gets older, she should progress from a tracheostomy to a less invasive kind of ventilation called a ‘BiPAP.’ 

"We were able to work with a number of specialists in a different state who specialize in this particular condition, and my understanding is there are some children who are able to progress from a tracheostomy to a BiPAP,” said Dr. Theresa Graif with Pediatric Critical Care at OU Health. 

Dr. Page acknowledged how difficult medical diagnoses can be: 

 "We know this is hard. We know no family should have to make these decisions, but there is life and optimism and happiness on the other side for these families." 

The Richards said their faith in God carries them through hard times.

The family added that they will have to take annual trips to Chicago for a team that specializes in Elizabeth’s condition. 

They also said their medical costs are in the millions. If you’d like to contribute to Elizabeth’s medical expenses, click here.