Modesto child's rare syndrome teaches parents to take it step by step

May 9, 2010 

  • What is it?

    • First recognized in 1961, the syndrome occurs in about one in 10,000 births.

    • It is caused by the spontaneous deletion of 26-28 genes on chromosome No. 7 at the time of conception.

    • Facial features include a small upturned nose, wide mouth, full lips, small chin and puffiness around the eyes; these become more apparent with age.

    • Most individuals have some type of heart or blood vessel problem, such as a narrowing in the aorta or pulmonary arteries.

    • Most children have a low birth weight or slow weight gain. Many have extended periods of colic or irritability, and infants sometimes have feeding problems because of low muscle tone, poor ability to suck or swallow, and a severe gag reflex.

    • Individuals have an endearing personality, good expressive language skills and typically are unafraid of strangers.

    • Most have intellectual or physical disabilities, which vary greatly from one person to another. Toddlers often are slow to walk, talk or be potty trained. Fine motor skills are often weak. Most have learning disabilities, from mild to severe.

    • Many seem especially attuned to music and can pick out tunes by ear.

    • Williams syndrome is not inherited, and so subsequent children are unlikely to have it.

    Source: www.thenewwsa.org

Audrey Hull sits in her reading class, bright in her matching yellow shirt, hair ribbon and hair clips. She enthusiastically raises her hand to define a word — "aloud."

"I think I might have a solution," she says, when the teacher calls on her. "It means out loud."

"Good job, Audrey," her teacher responds.

It's a high point in the school day for the 11-year-old fourth grader, who is put in mainstream courses when possible and in a class for developmentally delayed students the rest of the time. And it brings a smile to the face of Julie Oliveira, Audrey's special day class teacher of two years.

"She's come a long way," Oliveira said. "Before, she wasn't able to work in groups or stay on task. Now she can. And she's a hoot. She's definitely fun to have in class."

That delightful personality and expressive speech defines Audrey, the oldest child of Dean and Sabrina Hull of Modesto. She has Williams syndrome, a rare genetic condition characterized by medical problems, developmental delays and learning disabilities. But such children also have striking verbal abilities, highly social personalities and an affinity for music.

"There are a lot of silver linings," said Sabrina.

Because the condition is so rare — about one in 10,000 births — not many people know about it. So today begins the first national Williams syndrome awareness week. The Hulls will hold a gathering Saturday for other families in Northern California affected by the syndrome.

That kind of educational and support meeting would have helped the Hulls when Audrey was a toddler and they weren't quite sure what — if anything — was wrong.

Fertile hopes

Sabrina's journey to motherhood began with a five-year struggle with infertility.

"We had been married almost five years before we started trying, so it was 10 years before we had her," said Sabrina, 43.

They had tried various means of conceiving, but nothing worked.

"We began having conversations about adoption — maybe God didn't want us to have our own children; maybe we should adopt," Sabrina said. "Literally, the month before I got pregnant, I was on my knees saying, 'God, whatever child you want to provide for me, I will take it, if it's through adoption, our own child, whatever. I give it to you. I'm done.' I had to let go of control of it."

When the second-grade teacher learned, on the last day of the school year, that she was pregnant, "it was a complete surprise."

When Audrey was born, she seemed fine. But when she was 7 or 8 months old, Sabrina and Dean had a few questions for their pediatrician.

"I was a little concerned," Sabrina said. "She didn't roll over in her bed. Her head always seemed to be cocked to the side. She wasn't sitting up. Those were the first things.

"But she was healthy. She ate well and she slept well. We were trying not to think the worst. And in my mind-set, after five years of trying and praying, I had said to God, 'I will take anyone you give me.' I really think God was preparing me for her."

The pediatrician said Audrey was behind developmentally, but cautioned it didn't necessarily mean anything was wrong. However, when Audrey reached her first birthday and still wasn't crawling, walking or pulling herself to a stand, the Hulls were sent to a team of pediatric specialists at the University of California at San Francisco. The doctors ran a battery of tests, but even before the results were back, they said it probably was Williams syndrome.

They confirmed the diagnosis when Audrey was about 17 months old.

"I remember getting the phone call," said Dean, a high school teacher in Modesto. "It was the worst day of my life. As parents, we want to fix everything and do everything we can for our children to keep them safe and happy. It kind of takes the wind out of your sails. You don't know if your child will ever do the things you thought they might do.

"But the doctor told me, and he was right, 'This will be the worst day. It will get better from here. Once you realize she's not going to be a typical child, you move on and work to better her life the best you can.' "

Each child is different

The Hulls began investigating on the Internet. They found out that children with Williams syndrome can have widely varying degrees of physical and mental disabilities.

"It's different for each child," Sabrina said. "Some are more medically delayed; others like Audrey are more developmentally delayed. The interesting thing is Audrey reads at grade level. She's an excellent speller. But her math skills are more first grade. Socially and emotionally, it's really hard to put an age on it — more like a 5- to 6-year-old."

Getting in touch with the Williams Syndrome Association has helped with parenting issues, Sabrina said.

"We belong to (an electronic mailing list) through the WSA, so I'm able to talk to parents from all over the world," she said. "It's fantastic."

They also go to Williams syndrome conventions.

"It's the next best thing to being in Disneyland," Sabrina laughed. "Kids with Williams are so happy to be with other people. They go up to strangers with these big smiles and say, 'Hi! How are you?' "

But that trait can be a problem, especially during the teen and young adult years.

"People with Williams syndrome are very outgoing and friendly," Audrey said. "They're very trusting. They don't know how to handle innuendos. As the parent of a daughter, you take all that into consideration."

There already have been a few danger signs. Some third- grade boys tried to get Audrey to do humiliating things, such as eat grass. Their punishment included spending time in Audrey's classroom, and the young instigator later apologized, saying that after getting to know the special-education students, he knew what he had done was wrong.

There are other unknowns in the future. The Hulls, when they remodeled their home a few years ago, made sure Audrey had her own bedroom and bathroom because she'll probably live there throughout her adult life. She'll most likely never drive. Dean and Sabrina hope she'll find some kind of paid or volunteer job when she's older.

"As a teacher, I know it doesn't take a rocket scientist to navigate life and be successful," Sabrina said. "She may not be a college graduate, but if she knows how to read and communicate effectively, how to treat other people kindly, how to be appropriate in her own behavior, she can be successful."

Added Dean: "When you have a child with a disability, you're a little bit in mourning. I may never walk her down the aisle. She may never graduate from high school, much less college. But you have to look at the things she may be able to do. She reads well. She loves music. She shows talent in languages."

Making the most of therapy

To give Audrey her best shot at life, the Hulls have hooked up with occupational therapists, therapeutic horse riding, speech and physical therapists, and a variety of medial specialists. Some were used for a short time; others are ongoing.

Music therapy, for example, has been a good thing for Audrey. Guitar playing helps with fine motor skills and patterning. Audrey can't read music, but can play a tune she hears on a TV commercial, and if she hears something off-key, Sabrina said, it bothers her.

Dean said his wife's attention to detail has helped Audrey tremendously.

"I don't think there could be any better mother for a child without a disability, much less with one," he said. "She has not left a stone unturned finding things that will help Audrey. It was a big fight with Modesto City Schools to get music therapy for her. Sabrina never gave up."

The Hulls also have a son, Carson, who is 8.

"He was an amazing, joyful surprise," Sabrina said. "Every day, I just think Carson is God's special blessing. He's always been a very intuitive kid and always looked out for Audrey. He's more like a big brother.

"We know that down the road, her care might fall on him. Although we would never choose that for him, we know that you do what you have to do. This is family."

As for the future, Sabrina said: "We take it one day at a time. We pray a lot, and God has never let us down."


• WHAT: Williams syndrome family gathering

• WHEN: 11 a.m. to 4 p.m. Saturday

• FOR: Families with children who have Williams syndrome or those who want more information about the syndrome

• FEATURES: Barbecue lunch, children's activities, informational material

• COST: Free

• CONTACT: For address and more information, e-mail Sabrina Hull at breedean@comcast.net

Bee staff writer Sue Nowicki can be reached at snowicki@modbee.com or 578-2012.

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