Four years ago, after three months of trying to get her newborn daughter Sophie to smile, Erin Rupolo still hadn’t seen it happen.
“My whole thing was smiling,” she said. “I just didn’t want to wait anymore so I took her to the doctor.”
It was that doctor’s visit that would change Rupolo’s life. After a series of tests, Sophie, now 4, was diagnosed with Williams syndrome, a rare genetic disorder characterized by cardiovascular disease, developmental delays and learning disabilities.
Despite such problems, those suffering from the condition also can exhibit striking verbal abilities, highly social personalities and an affinity for music, according to the Williams Syndrome Association website.
“She made me wait three more months to see her smile and hasn’t stopped smiling since,” Rupolo said. “She’s just a delightful happy child, and everybody just gravitates to her.”
The syndrome, which affects an estimated 20,000 to 30,000 people in the United States, is often overlooked because of its rarity.
“I had never heard of [Williams] before she was diagnosed,” Rupolo said. “My doctor had one patient with [Williams] prior to Sophie.”
Now, Rupolo and Lisa Ridgley of Urbana, who serves as chairwoman for the Mid-Atlantic Region of the Williams Syndrome Association based in Troy, Mich., are working to bring awareness to the condition.
On May 4, more than 300 people and families will gather in Urbana for the fifth annual Frederick “Walk for Williams,” an effort to raise money for the association.
Last year, the association raised $20,000 at the Urbana walk and more than 350 people participated in the event. This year, organizers hope to raise $25,000.
“I think [the walk] makes a difference in other people’s lives,” Ridgley said. “It’s like an outlet for other people.”
The idea for the walk was first proposed by Emma Lewis, 22, of Urbana, who organized the event as her senior project while at Urbana High School.
Lewis, who grew up down the street from the Ridgleys, was a baby sitter for Tatum Ridgley, 7, who has Williams syndrome, and her sister, Emma, 9, for years.
“I love their family, and I’ve always wanted to do something for Tatum,” Lewis said. “She’s just the most amazing and friendly little girl. She is really an inspiration to me and how I should just have a positive outlook on life.”
Lewis, a soon-to-be graduate of Salisbury University, said that she’s happy that the walk has become such a success in the community.
“I’m just in shock about the amount of support,” she said. “I’m really happy that its taken off the way it has.”
Although no tests had shown anything but a normal pregnancy, Ridgley said she had an instinct that something was not right seven years ago.
“I never knew [for certain] that there was anything wrong with her when I was pregnant, but I always had a feeling,” she said.
When Tatum was born, doctors soon discovered that she had supravalvar aortic stenosis, a narrowing of the aorta, which is a complication of Williams syndrome.
“Her legs ... were blue, she wasn’t pumping blood to the lower half of her body,” Ridgley said.
Six weeks after that diagnosis, Tatum also was diagnosed with Williams syndrome.
Even after several surgeries to correct some of her heart and eye problems, Tatum is a happy child, Ridgley said.
“She’s just your little happy-go-lucky kindergartener, and she’s all smiles,” said. “And she loves the walk.”