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Furry friend helps lift spirits of girl with rare genetic disorder

Charli Jane was born with several heart defects and 22q deletion syndrome, a rare genetic disorder also known as DiGeorge Syndrome.

ATLANTA — A young Georgia girl is navigating a tough genetic disorder with a new companion by her side.

Charli Jane Spradlin is no stranger to medical care.

She was life-flighted to Children's Healthcare of Atlanta at a day old and had her very first heart surgery four days later. 

Her second heart surgery followed at seven months. Brandy Spradlin, Charli Jane's mother, explains it's been the norm since her daughter was born. 

"We found out that she had five different heart defects, and with the defects that she had, more than likely, they told us that she had 22q deletion," Spradlin said.  

Charli Jane was born with several heart defects and 22q deletion syndrome, a rare genetic disorder known as DiGeorge Syndrome.

22q can affect any body system, according to The Nationwide Children's Hospital. Most children with 22q have heart, immune, learning, speech and can have behavioral difficulties. 

"22q consists of a number of possible problems for someone," Dr. Heather Maloney, a cardiologist at Children's Healthcare of Atlanta, explained. "Many of the problems are things that can be serious or even life-threatening. One is the heart defect similar to Charli's, where there's a big hole in the heart."

The disorder caused Charli Jane to be born without a thymus, hearing loss and temporary vocal cord paralysis. Spradlin said that Charli Jane's love of animals and her service dog, Elsie, keeps her going.

"She is Charli's absolute best, best friend. I mean, wherever Charli is, Elsie is," Spradlin said. "If Charli goes to bed at night, Elsie goes to bed at night. They are just like bosom buddies glued at the hip."  

Spradlin said service animals had been part of Charli's journey since the beginning and was introduced to a service dog during one of her first stays at the hospital. 

"We met one of the Labradoodles, a service dog, and we absolutely fell in love. We made it a goal to get Charli one, and in 2014 we got Charli our first labradoodle," Spradlin said.

Elsie was able to give Charli Jane support this past March when the 11-year-old had her third heart surgery.

"This past year has been really hard because we were in the hospital just about every month except for this past month. We were inpatient except for January and June," said Spradlin. 

Maloney said that Charli Jane continues to do well after her most recent heart surgery. 

"Hopefully, if things continue to go well, she'll be able to come in once a year," Dr. Maloney said. 


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