Fort Smith Girl Meets Kids With Same Rare Chromosome Disorder

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FORT SMITH (KFSM) -- Southside High School student, Ella-Marie Humphries is just one of 21 kids in the world who are missing a gene called USP-7.

"The gene regulates protein as recycled or degraded and the kids that are missing the gene, this doesn't get done correctly, so they end up with different symptoms such as intellectual disability, autism spectrum disorder, feeding issues, speech issues, and eye issues," her mother Britt Humphries, said.

At the time of her diagnosis, doctors didn't know how much about the disorder.

"The geneticist just said, 'um, well, she's missing this gene and we don't know anything about it,'" Britt said.

But now, the Southside student and her mom are connecting with others like Ella Marie.

"I met kids kinda' like me," Ella-Marie said.

Ella-Marie got the chance to meet kids from five states and two countries who have the same rare chromosome disorder.

"There were six other families in Texas," Britt said. "It was just neat, we got clinic appointments at Baylor, they took care of our kids while we got to meet and discuss things. That was really neat because we formed connections."

That visit lead to the families establishing a foundation to help cure USP-7 and identify more individuals.

"I found some groups I belong to now," Ella-Marie said.

Next up for Ella Marie, her first job, which will be at the Sebastian County Humane Society.

"I'm very excited to show others that they can do it, even if they have the same syndrome as me," Ella-Marie said.

Ella-Marie graduated from speech and occupational therapy. She will start her new job at the humane society next week.

As for the USP-7 group, they plan to make their visit an annual event.

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