Support building for rare disease - WAFB 9 News Baton Rouge, Louisiana News, Weather, Sports

Support building for rare disease

Kelli Guillory Kelli Guillory

Watching four year old Kelli Guillory zoom by on a bike, it's hard to imagine that since the day she was born her tiny body has struggled to keep going.

"Kelli was born in 2009," said her mother Jennifer Guillory. "She coded the day after she was born. We had to pull the code. She stopped breathing."

Kelli's newborn screening revealed she had a rare genetic disease called fatty acid oxidation disorder, which means her body can't turn fat into energy. 

"Any activity she has to eat more to get her energy back up. The more active she is, the more she has to eat," explained Guillory.

Kelly's mother had never heard of the disorder, and neither had her pediatrician.  In her short life, Kelli has had 30 hospital stays- including one where doctors performed an emergency operation to insert a port in her heart so medicine can be administered quickly - and has four dedicated doctors.

She has a strict low-fat diet, and her family has to monitor her blood sugar closely.  They also carry around an emergency plan at all times that explains what steps must be taken if she falls ill.  This is because many doctors and medical professionals are unfamiliar with FAOD.

These are all things her family and her doctors have had to learn over the years.

"You can look at my daughter and you can look at these other kids and say, there's nothing wrong, and sometimes they get pushed away," said Guillory when talking about some of the frustrating encounters she's had with doctors.  "You got to explain and fight for them and advocate for them."

Guillory says other families like hers often find themselves without any support to sort through the challenges of caring for child with a rare disease.  That's why she's teamed up with other moms to create Mito's Angels Hope for a Cure, a support group for families. 

The group hopes to provide education and even comfort, with hospital care bags for families going through the same thing.

On Thursday March 7, Mito's is having a fundraiser at The Varsity.  Tickets are available at the door from 7-10 pm and proceeds will go towards creating care bags and providing financial support for families of children with rare diseases.

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