Rare genetic disorder Williams Syndrome can mimic autism; advocates say it’s often diagnosed late

Local family explains what parents should look for if their child hasn’t been tested

Since 5-year-old Daisy was a baby, her family knew something was different about her.

“The way she reacted to noises, she would get absolutely terrified. Any little noise, her arms would flail. That we later found out was hyper-sensitive hearing. She hit a lot of her milestones that kids hit, way behind from sitting up, to crawling, to walking, to eating,” said her mom LaRae Borrego.

Borrego said many traits lined up with autism, so while they waited to do the appropriate testing, they enrolled her in therapy starting at six months old. She still goes to occupational therapy, physical therapy and speech therapy.

At three, when Daisy passed the autism tests, they finally did genetic testing and found out she had the rare genetic disorder, known as Williams Syndrome.

Williams Syndrome is a rare genetic disorder that occurs in one in 10,000 - 20,000 births in the U.S. It causes many developmental problems, which can include heart and blood vessel issues and learning disabilities. Sometimes called Williams-Beuren Syndrome, it happens because approximately 26 genes are deleted from chromosome 7.

“They have very prominent features. I mean, you put them all in the same room and it’s like oh my gosh, they’re all related! It’s absolutely adorable,” Borrego said.

The specific facial features like a wide mouth, a small upturned nose, widely spaced teeth, and full lips are typically accompanied by an overly friendly personality.

“I love people!” Daisy said with a big smile.

“They just want to talk. They’ll talk about anything. They’re some of the funnest people to be around. They all love music, they all play instruments,” Borrego explained.

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Pictured are Daisy, 5, and her mother LaRae Borrego.

Daisy has dealt with seizure-like issues and dental problems associated with Williams Syndrome.

The eventual diagnosis was a relief to her family, who before then had no answers as to why she was having medical and learning issues. However, it was also extremely overwhelming.

Then they found San Antonio’s chapter of the Williams Syndrome Association, or WSA.

“I can’t even count how many people we met. I had no idea that we had such a big family here. When you find a diagnosis for something you start to wonder, is there a life expectancy? Does that change? And to see that there were older functioning adults with it and you see a lot of their videos on YouTube, Facebook, Instagram. You see all these older people who have it and they’re just fantastic,” Borrego said.

During Williams Syndrome Awareness Month in May, she wants to educate the public about people like Daisy.

“One of our friends, her name is Victoria, she actually won in the girls’ division for 2019 for Fiesta Especial. She has Williams Syndrome. A lot of people don’t know that. She was the face of everything,” Borrego said.

For families who see a little of their undiagnosed children in Daisy, Borrego suggests genetic testing, saying it’s typically the only way to diagnose Williams Syndrome.

“Push for genetic testing, because some doctors don’t even know about this. A lot of insurances nowadays pay for it. It’s really easy, a swab of the mouth. We knew within a month and it was worth the wait,” she said.

Now, they can breathe better knowing Daisy’s differences are worth celebration, not worry.

If your child or family member has been diagnosed with Williams Syndrome, and you’re looking for support, check out the Williams Syndrome Association website. There you can find parent support, classes, and information.

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About the Authors:

Courtney Friedman is a KSAT anchor and reporter. She has an ongoing series called Loving in Fear, confronting Bexar County’s domestic violence epidemic. She's also covered Hurricane Harvey, the shootings in Sutherland Springs and Santa Fe, and tornadoes throughout Texas. She’s a California native and proud Longhorn who loves calling SA home.

William Caldera has been at KSAT since 2003. He covers a wide range of stories including breaking news, weather, general assignments and sports.