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As Awareness Increases for Williams Syndrome, So Does Fundraising Efforts

Williams Syndrome, Walk for Williams

Williams Syndrome is a rare condition affecting one in 7,500 newborns. But many have never heard of the disease, until last June’s ABC News article and 20/20 feature story. Today, Terry Monkaba, the executive director of the Williams Syndrome Association (WSA) is pleased to announce that fundraising efforts have increased 35% over last year.

Williams Syndrome is a genetic condition that is characterized by medical problems that include life-threatening cardiovascular disease, developmental delays and learning disabilities. Those with the condition have a characteristic facial appearance that includes features such as a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. These facial features become more apparent with age.

Many infants and young children also have feeding problems due to low muscle tone, severe gag reflex, poor suck/swallow ability and tactile defensiveness. The children also often have dental abnormalities such as small, widely spaced teeth. Therefore, they often have slow weight gain during the first several years of life. Thankfully, feeding difficulties tend to resolve as the children get older.

Developmental issues include delay reaching milestones such as walking, talking and toilet training. Muscle tone and joint laxity may also be a problem in young children.

But not all characteristics of Williams Syndrome are negatives. Many children have striking linguistic abilities, highly social personalities, empathy, and an affinity for music. Socially, the individuals are noted to have a very endearing personality. They are typically unafraid of strangers and show a greater interest in contact with adults. But unfortunately, this does often co-occur with heightened anxieties which makes it difficult for them to form lasting relationships.

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Williams Syndrome children often demonstrate strong performance in intellectual areas such as speech and long term memory
“Awareness has skyrocketed, for a relatively rare syndrome,” says Monkaba, who notes that because of the increased fundraising efforts, the scholarship budget at WSA summer camps has increased to $135,000 from $35,000 just two years ago. The number of camp weeks has grown from four to eight over the same period.

Last fall, several institutions received a $5.5 million grant from the National Institute of Child Health and Human Development to study Williams Syndrome.

For example, recently, scientists with the National Institutes of Health studied MRI scans of 14 people with the condition and found that the insula – the part of the brain involved in emotion – overall was smaller as compared to those without Williams Syndrome. But PET scans that showed more detail revealed that one area of the insula is actually larger than normal and those with more extreme personality differences had more grey matter there.

Studies such as these may also one day help children with other disorders such as autism.

“It’s pieces like 20/20′s that make all the difference,” she notes. “Doctors see it, they go to the website, get interested.” Doctors’ and the public’s heightened awareness has caused more people to be diagnosed with Williams Syndrome, here and abroad, and at younger ages, she said.

May 5th through the 13th is set aside as Awareness Week for Williams Syndrome. The Walk for Williams 2012 is taking part in more than fifty locations across the country. See the Williams Syndrome Association website for more detail on how you can participate or donate toward a worthy cause.

ABC News
Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.1114774109
Williams Syndrome Association