Tuesday, April 26, 2011

Event looks to help put disorder on the map

In 2009, the event raised about $6,000, and served as a template for future walks across the U.S. In 2010, the walk raised almost $12,000. This year's goal is $16,000.

"You want people to understand what it is," Ridgley said. "Maybe they know someone who has an undiagnosed child. I think kids are a lot more understanding and open to these kids that have disabilities when they learn about them."

It was immediately after Tatum was born that doctors noticed her heart was not pumping blood properly, and she had open heart surgery when she was 4 days old. She was diagnosed with supravalvular aortic stenosis, a common affliction of people with Williams syndrome. Tatum is now monitored regularly and visits experts at the University of Louisville with her family each year. She will eventually need her descending aorta replaced.

Another common condition of the disease is poor vision and strabismus, or crossed eyes. Tatum had surgery to correct her strabismus last year. She also suffers developmental delays, scoliosis, and mental and speech difficulties. Her parents hope that with the help of an aide she can attend regular public school, starting next year.

Disabilities differ in each person with Williams. Ridgley's friend and fellow event organizer, Erin Rupolo, said her daughter Sophie has exhibited different characteristics than Tatum.

"We don't know what her future will be like. We'll just have to be patient and see what happens," Rupolo said.

Sophie was diagnosed at 3 months.

"She had extreme colic, never smiled and was miserable," Rupolo said. "I kept going to the doctor, who said she just had colic and not to worry, but I knew something was wrong."

Finally, a developmental pediatrician ordered a series of tests, including a metabolic microarray, which identified genes missing from the seventh chromosome.

At almost 28 months, Sophie is in excellent health, and has only mild stenosis, according to Rupolo, but has the common facial features, such as puffy eyes, a broad nose and a pronounced mouth.

Last year, Sophie had surgery to correct her crossed eyes but still wears glasses. She also has low muscle tone and some developmental delays, but like Ridgley, Rupolo hopes to keep her daughter in public schools with aides to assist her.

Adults with Williams syndrome often live with their parents, and the adolescent years can be difficult. But Ridgley and Rupolo take their challenges in stride and support each other.

"Of all the things my daughter has, it could be a lot worse," Ridgley said.

Rupolo agreed. "They are wonderful individuals, and we will enjoy them and help them to be happy and self-reliant in any way we can."

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