Rockville family draws attention to Williams syndrome -- Gazette.Net


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Sophie Rupolo is known as the mayor of the school bus.

If you go

Walk for Williams: Registration begins at 9 a.m. and the walk starts at 10 a.m. May 5. Participants will meet at the Villages of Urbana, 9023 Harris Street, Urbana. For information, visit www.walk4williams.org or call 800-806-1871.

The 3-year-old hops on and, with an earnest grin, says, “Hi, friends!”

“She just starts the party,” said Erin Rupolo, Sophie’s mom. “It’s just something about her. People just gravitate to her.”

Sophie of Rockville has Williams syndrome, a genetic condition characterized by medical problems such as cardiovascular disease, developmental delays and learning disabilities. These issues occur along with striking verbal abilities, highly social personalities and an affinity for music, according to the Williams Syndrome Association.

On May 5, individuals and families will gather in Urbana to raise money, support and awareness for the syndrome and families like Sophie’s.

In it’s third year nationally, the walk draws attention to a syndrome often overlooked. Last year, the association raised $16,000 at the Urbana walk, and about 150 people attended the event. This year, that number might jump to 300, Rupolo said.

“It’s just amazing how many people care,” she said.

The association expects about 8,000 people to participate in walks nationwide, said Terry Monkaba, executive director of the association.

Eighty-seven cents of every dollar raised will go toward funding enrichment programs and summer camps, scholarships for post-secondary education and medical assistance for people with Williams syndrome, Monkaba said.

Because the incidence of Williams syndrome is relatively rare — 1 in 10,000 people are diagnosed — the association found it difficult to raise awareness.

“We need to let the public know so that our kids can get the same kind of help that kids with autism have,” Monkaba said. “It’s been a huge motivator.”

Although 30 years old, the association began to give back to the community in the past five years, she said. Individuals can contact the national office in Michigan for an application for services.

In Rockville, Sophie proves an enchanting handful, completely sweet with a dash of sass. Clad in a pink ruffled shirt and Hello Kitty barrette, she sat smiling in her mother’s lap.

“More tickle,” Sophie said.

Rupolo smiled back, tapping her fingers along the child’s sides.

“I count my blessings with what we have,” Rupolo said. “She’s taught so much patience.”

Rupolo first realized Sophie might be suffering from developmental issues when her 3 month old was not smiling at an age she should have been.

“She wasn’t smiling and I was that crazy mom in the pediatrician’s office, ‘There’s something wrong! There’s something wrong!” Rupolo said.

After genetic testing, the family learned Sophie had a deletion in chromosome 7, the cause of Williams syndrome.

But Sophie, who has a longer deletion than most, seems to be an exception to the rule, Rupolo said.

She has avoided major health issues, despite having been born with a heart murmur. And that smile appeared.

“After she hit about 6 months old, that’s when she started smiling,” Rupolo said. “And she hasn’t stopped since.”

The association estimates the syndrome affects more than 20,000 people in the U.S.

Rupolo connects with some of these individuals via Facebook. The social networking site allows people to ask questions and seek advice. For example, when Sophie complained of pain in her legs during the night, her mother turned to the internet. Another child experienced the same ailment and found out the child had abnormal iron levels.

It turns out, Sophie did, too.

But moving forward, Rupolo will need to keep an eye out for other potential dangers. A symptom of Williams syndrome is a lack of “stranger danger” mentality and it’s difficult to teach the concept.

Still, the family does it’s best to live in the moment.

“As long as she’s happy, that’s all that matters,” Rupolo said.

abryant@gazette.net