Family promotes awareness of daughter's rare syndrome (w/video)
Victoria Advocate - 12/31/2017
Dec. 31--YOAKUM -- Jesse DeBord lifts his 5-year-old daughter up and gently places her on a custom-made leather saddle.
Jadyn's expression ever so slightly changes as she sits atop her horse, Lucky.
Lucky tries to buck Jesse off but doesn't mind Jadyn. They have a connection.
"She'd rather ride bareback," he said.
Her grandparents own Double J Saddlery in the small town north of Victoria.
DeBord, 36, said the family has been through a lot during the past four years.
In spring 2016, they learned Jadyn is one of 250 people worldwide with a rare disease called Syngap1.
This is a genetic mutation associated with intellectual disability, epilepsy and autism spectrum disorder.
JoJo DeBord, 38, said she had a normal pregnancy.
But when Jadyn was 10 months old, she started having difficulty eating.
She didn't walk until she was 2 and has high and low muscle tone and sensory issues.
Jadyn is nonverbal and has intellectual disability and autism.
But one of her biggest challenges is a hard-to-treat form of epilepsy. Jadyn is on her sixth different medication in an attempt to treat several seizures each day.
JoJo and Jesse took their daughter to several specialists until she went to Texas Children's Hospital.
An extensive genetic test showed a mutation in the Syngap1 gene.
JoJo said at first she felt relieved that there was hope.
"We finally had an answer, but we still didn't really know what to expect," Jesse recalled.
He went straight home and got online to learn more about DNA.
The family learned about Bridge the Gap -- Syngap Education and Research Foundation and has been organizing fundraisers to help other families.
On Christmas Day, the DeBord family raffled off a guitar autographed by the rock band 3 Doors Down.
JoJo said their hope is to support the foundation's mission, which is to raise awareness and search out treatments that will improve the quality of life for those living with Syngap1.
Jadyn's neurologist, Dr. Jimmy Holder, is the director of the foundation's medical advisory board.
The foundation's president and CEO is Monica Weldon.
Five years ago, Weldon's son Beckett was the first to be diagnosed at Texas Children's Genetics Clinic with the gene mutation Syngap1.
Weldon, 48, remembers that at that time, her son was one of six identified in North America with the disorder.
She remembers finding a single research paper on the subject.
"There was nothing out there," she said.
She quit her teaching job to run the organization and hasn't looked back.
Her son is now 9, and she can't imagine their lives any differently.
She said Beckett went to his twin sister's basketball game recently and was able to watch from the stands without getting over-stimulated and needing to leave.
"It really does make you appreciate the small things in life," she said.
Several scientists are working on Syngap1 worldwide, but the science is slow when it's your child.
"That was a hard pill to swallow. All of the time and energy that I'm putting into this, it's not for me and him," she said. "It's for the people that are coming behind us."
The foundation's supporting scientists and clinicians received almost $7.5 million over the past six months to work on the genetic research. There are seven labs and two centers of excellence collecting data on the Syngap1 gene, she said.
Weldon said early research suggests at least 2 percent of people with intellectual disability could have the Syngap1 mutation.
She said the little protein the brain needs that the gene produces could hold the key to several other disorders.
Holder, who is an assistant professor of pediatrics neurology and developmental neuroscience at Baylor College of Medicine in Houston, agrees researching this particular gene is important.
Those with the Syngap1 genetic mutation have half the amount of protein needed for proper brain development. Finding ways to increase that amount could help reduce communication deficits, and the hope is to also improve the other symptoms that are related to this rare genetic neurological mutation.
But his comprehensive medical clinic focuses on connecting parents with resources such as therapy for developmental delays and helping to manage epilepsy.
That's what the DeBords are doing to help Jadyn.
"I try to set short-term goals," JoJo said.
She takes Jadyn to therapy sessions in Victoria and classes at the DeWitt/Lavaca Special Education Cooperative.
JoJo noticed her daughter is walking better and falling less often as she gets older.
Jadyn lets her mom put big bows in her hair and likes to draw with sidewalk chalk.
JoJo said her daughter likes to snuggle and is loving. Her younger brother, Jase, is 3 years old, and he watches out for her.
Their current goals include helping Jadyn communicate, feed herself and potty train.
JoJo said she can't even bring herself to think about long-term goals, but her husband has one hope in mind.
"I'd love to be able to talk with her," Jesse said. "You want her to be self-reliant, but if not, we're OK with that."
The couple said living in a small town surrounded by friends and family has helped provide them a strong support network.
They said being connected to the Bridge the Gap -- Syngap group has also helped because they can talk to families going through similar challenges.
But JoJo said their faith in God has helped them get through the hurdles.
She points to Jadyn's tiny saddle, which includes the Bible verse Isaiah 40:31.
"They will mount up with wings like eagles. They will run, and not be weary. They will walk, and not faint."
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