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Family shares their journey through Chromosome 18 abnormality

Chromosome 18 abnormalities are among the 7,000 rare diseases in the world, and the only Chromosome 18 research center is right here in San Antonio.

SAN ANTONIO — Stephanie and Ben Zapata say they noticed early on that their youngest daughter, two-year-old Abby, was a little different than her six older siblings. “She wasn't talking like our other girls had,” Stephanie said.

Mom and Dad thought maybe it was because the other kids were doing the work for her. “She's kind of spoiled we were hoping. Everybody was there helping her and doing everything for her, so she really didn't need to talk," Ben said.

Stephanie told us, “They wanted to have her tested for autism, and I asked if we could have genetic testing done instead because I felt like maybe there was something we were missing." The test came back in January with a small deletion in her 18th chromosome. 

“It was the first time I ever heard about it. I was kind of shocked,” Ben said. Stephanie added, “You were kind of devastated. Yes, because we didn't really know what that meant. When you have a child that has a genetic disorder you get a list of things you have to check off. She will need to go to a cardiologist, immunologist, endocrinologist."

But then they discovered the Chromosome 18 Research Center in San Antonio at UT Health, which gave them many of the answers they needed. “They have a group of doctors that specialize with children with chromosome 18 deletions and disorders,” Stephanie said.

Right now, Abby's future is a big question mark. Stephanie told us, “You imagine your kids are going to grow up. They are going to get married. They are going to get jobs and they are going to have kids."

But two things are certain: she's loved by all of her siblings and she also loves to dance.

Next Thursday, March 28, from 5 p.m. to 7 p.m. the Kendra Gives Back event takes place at the Quarry. 20 percent of the proceeds will go towards supporting the Chromosome 18 5K Starfish Dash on April 27 during Fiesta, supporting the Chromosome 18 Research Center.  

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