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05/12/2010 04:31 PM

Family raises awareness about rare genetic disease

By: Stephanie Stilwell

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FORSYTH COUNTY, N.C. - A Winston-Salem mother is working to raise awareness about a rare disease doctors diagnosed her daughter with when she was just a baby. Williams Syndrome is a rare genetic disorder that can lead to problems with development.

Madison Potts is like any other 9-year-old, outgoing, talkative and curious. And she loves to learn at school. "Well spelling is like you can find the words in the dictionary, like one of those dictionaries over there. And we love to do spelling,” Madison Potts said.

But one thing that set Madison apart from her friends is she suffers from a rare genetic disease called Williams Syndrome. “About 20 genes are deleted off the seventh chromosome and that causes distinctive facial features, learning disabilities and over-friendliness," Theresa Potts, Madison's mom said.

But it wasn't until 20 years ago that doctors could even test for the disease. Over that time, support has grown for those living with it and now a week is devoted to raising awareness.

“And so now we've just gotten to the point now that the organization has grown enough and they're able to pay staff to do things. So they decided to do this National Williams Syndrome Awareness week,” Potts said.

Williams Syndrome affects about 1 in 10,000 worldwide. Because it's so rare, raising awareness is really important, said Potts. "Just so people understand that there are genetic disorders out there and families that are dealing with this and living with this on a daily basis," she said.