From the time Samantha was born three years ago, her mother sensed something was different about her, something wrong.
“Sammy was a really crabby baby with colic all of the time,” Gretchen Bratton said. “There were little milestones along the way that she wasn’t reaching. She wasn’t growing like she should have. We knew something was wrong, we just didn’t know what. Even her pediatrician referred to her as a ‘medical mystery.’ ”
A genetic test a year ago at Legacy Emanuel in Portland finally solved the mystery. Sammy was diagnosed with Williams syndrome, a rare genetic disorder caused by a missing chromosome, occurring in one of 10,000 births. It causes heart, kidney and intestinal problems along with mental and physical delays. Most young children with Williams syndrome have similar facial features, which include a small upturned nose, wide mouth, full lips, small chin and puffiness around the eyes.
“As soon as Sammy walked in the door, the doctor there knew,” said Bratton, 33, of Longview. “He just kind of looked at her and said, ‘We’re going to do a test.’ ”
Because of its rarity and unfamiliarity, Bratton is holding a benefit dinner, auction and dance Saturday to help raise awareness of the syndrome and to raise money for further research and support of the Williams Syndrome Association. She also hopes to connect with others who have the syndrome and their families.
Now that she’s been diagnosed, Sammy has to have her heart checked every two years, and doctors will keep an eye on her kidneys, Bratton said. She already has mild stenosis — a narrowing in the arteries.
Sammy has delays in development of her gross motor skills, cognitive skills and self-help skills such as potty training and feeding herself. Like others with Williams syndrome, she has problems eating because of reflux trouble. “There are times she doesn’t want to eat because of the gag reflex,” Bratton said. “She associates eating with pain.”
People with the syndrome usually have overly friendly and endearing personalities and typically are unafraid of strangers. They also exhibit strong verbal skills, have an uncanny memory for faces and names and a passion for music. Just like Sammy fits the physical traits of the syndrome, she typifies the personality traits as well.
“We took her to the haunted house in Rose Valley, and she wasn’t afraid at all. She was saying ‘hi’ to all the monsters,” Bratton said as she watched her gleeful daughter entertain a visitor with a bunny puppet. “She picks out the scariest, most unapproachable-looking person in the grocery store and waves and talks to them.”
Bratton said she’s preparing for many years of special classes for her daughter. “Learning is going to be challenging,” she said. “Along the way, I’ll have to train teachers” to understand the syndrome.
Sammy attends the Broadway Learning Center three half-days a week. She also has physical therapy and recently started therapeutic horseback riding.
“At first she was complaining about her helmet and this and that at her riding lesson. Then we played some classical music and she calmed right down. During her lesson, when the music stops, she stops the horse,” said Bratton. As her mother told the story, Sammy pulled on imaginary reins, saying “Whoa!”
Sammy will face mental and physical challenges most likely her entire life, Bratton said, and it’s unclear whether she’ll be able to live independently as an adult.
“The older people I’ve met who have Williams syndrome, they don’t function as much as I’m hoping for her,” she said. “One boy that I met was 19 and he lived in a transitional apartment. Things like that aren’t offered here. Another 19-year-old that I met is going to college and he seems to be doing well. He lives with his parents, but I don’t think he drives.”
Since Sammy’s diagnosis, Bratton and her family — 15-year-old and 13-year-old sons and husband, Tian — have immersed themselves into learning as much as they can about the syndrome.
“There are only 123 families in Oregon and Washington registered with the Williams Syndrome Association,” Bratton said. “We drove clear to Bend for a pizza party just to meet some more people. We’re going to a national convention next summer in St. Louis where there will be clinics, doctors speaking and everything you can imagine.”
Bratton said, in addition to raising money for the Williams Syndrome Association, she’s also looking forward to the social aspect of Saturday’s fundraiser.
“I know there must be more out there,” Bratton said. “We need to tap into as many resources as possible.”
On the Net:
To learn more about Williams syndrome, visit www.williams-syndrome.org
Williams Syndrome Association benefit
Gretchen Bratton is hosting a fundraiser to beneift the nonprofit Williams Syndrome Association from 5 to 10 p.m. Saturday at the Monticello Hotel in Longview. Tickets are $50 per person and include dinner, dancing, live music, silent auction and raffle. Tickets can be purchased online at www.williams-syndrome.org or contact Bratton at (360) 775-0852 or gretchenbratton@comcast.net
Tickets also are available at the Monticello and at Clean Machine, 1170 Commerce Ave., Longview. Tickets must be purchased in advance.
Posted in News on Thursday, November 12, 2009 12:00 am
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