Bountiful baby 1 in 300 worldwide with rare genetic disorder


8 photos
Save Story
Leer en español

Estimated read time: 2-3 minutes

This archived news story is available only for your personal, non-commercial use. Information in the story may be outdated or superseded by additional information. Reading or replaying the story in its archived form does not constitute a republication of the story.

BOUNTIFUL — Four-month-old Kalea sleeps peacefully in the living room of her Bountiful home, but the sweet scene was the calm after the unforecasted storm.

Right after birth, doctors whisked Kalea away and worked frantically to save her life.

"I was in denial. I was," said Nidia Armenta, Kalea's mom.

In the intensive care unit, doctors discovered she has Pallister-Killian Syndrome, a rare developmental disorder. Open-heart surgery followed. Armenta said she was terrified.

Pallister Killian Syndrome is caused by an extra isochromosome 12p, the short arm of the 12th chromosome, according to doctors. The abnormality happens during meiosis, or the division of the cells. Babies like Kalea have low muscle tone, congenital heart defects, GI anomalies, kidney problems and shorter limbs.

"Intellectual disabilities and developmental delay before that," said Dr. Andrea Edwards, of Wasatch Pediatrics. "About half of them will have seizures."

The news was hard for Kalea's family to take. "It was like, 'This isn't happening,'" Armenta said.

Edwards said she is impressed with how well the family is coping with Kalea's challenges. "If you go into the hospital at term and are expecting to have a healthy baby just like your other babies and it turns out your baby is going to have some long-standing challenges, that's a hard thing to cope with," Edwards said.

There are only 300 kids with Pallister-Killian worldwide. Kalea is the only known case in Utah. But she has siblings who adore her, and after a few days, her mother found strength.

Photo: KSL TV
Photo: KSL TV

"My husband was like, 'You know, this is when the baby needs us the most, so you have to be strong. There's no option,'" Armenta said. "That's when I was like, 'You're right. I can't break down. My baby's depending on me.'"

Part of her courage comes from a network of families she's found on social media.

"There are kids from all over the world, from Australia, the U.K.," she said. Through these online support groups, she's learned kids like Kalea have a lot of joy.

But her medical care is extensive, and she's got more surgeries coming. But she's already off her feeding tube and drinking from a bottle, a huge step, doctors say. Kalea is beating the odds. Sometimes love and support is the best medicine.

"I just love my baby. I see her no different from the other kids," Armenta said.

If you'd like to help out with medical expenses, visit the family's GoFundMe* page.

*KSL.com does not assure that the money deposited to the account will be applied for the benefit of the persons named as beneficiaries. If you are considering a deposit to the account, you should consult your own advisors and otherwise proceed at your own risk.

Photos

Most recent Utah stories

Related topics

UtahFamily
Heather Simonsen

    STAY IN THE KNOW

    Get informative articles and interesting stories delivered to your inbox weekly. Subscribe to the KSL.com Trending 5.
    By subscribing, you acknowledge and agree to KSL.com's Terms of Use and Privacy Policy.

    KSL Weather Forecast