ABOUT WILLIAMS SYNDROME

This disorder is a developmental issue for those who have it and it can affect the body in various areas both outside and inside. The United States Library of Medicine states that Williams syndrome, “is characterized as a mild to moderate intellectual disability intellectual disability or learning problems, unique personality characteristics, distinctive facial features and blood vessel problems. This disorder is caused by the deletion of genetic material. This deletion can cause problems in organ, skin and brain development. This deletion however can contain 26 to 28 genes which can have a drastic effect on the person.

 

Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. This is not the rarest of the rare but it is not as common as other types of conditions such as Down syndrome.

 

The U.S. Library of Medicine defines this condition for children as showing, “distinctive facial features including a broad forehead, a short nose, with a broad tip, full cheeks, and a wide mouth.” For children, there may be dental problems while adults with the same condition can look “gaunt.”

 

Supravalvular Aortic Stenosis (SVAS), is a frequent struggle for those with Williams. SVAS is, “the narrowing of the large blood vessel that carries blood from the heart to the rest of the body.” This condition must be treated and if it goes untreated, other problems can stem from it. These problems can range from heart failure to something as simple as shortness of breath. Hypertension is also a major problem associated also with Williams syndrome.

 

Also on the inside of the body, people with Williams also deal with tissue problems. Sometimes, there are abnormalities within the connective tissues and/or joint problems. The U.S. Library of Medicine states, “Affected people may also have increased calcium levels in the blood (hypocalcemia) in infancy, developmental delays, problems with coordination, and short stature.

 

Some people may have problems with their eyes, vision, digestive tract, and the urinary system. It all depends on what tissues are affected and how those coincide with the organs and/or bones.

 

This specific syndrome affects the body’s physical appearance more than other types of disabilities.

References: https://ghr.nlm.nih.gov/condition/williams-syndrome

DEE

What does Williams Syndrome mean to you?

Dee said she loves music, bowling and playing bocce ball. She said that math is difficult for her, and she doesn’t like it, but music is easy because it’s different and she loves the sounds. It’s easy for her to remember the names of her favorite songs and the people who sing them.

What do you want me to know about you?

Dee said she’s the only person in her class who has William’s Syndrome, that she knows of. She feels unique because she’s never met anyone else with William’s Syndrome, she said, and her skin is soft like a baby’s. In her free time, she loves to cook and learn new recipes.

What is the best way to communicate with you?

Dee said the best way to talk with her is to just come up and begin a conversation like you would with anybody else. If you can start a conversation on a topic she likes—like politics, current events, Wheel of Fortune, Jeopardy, or wrestling—she’ll have a great conversation with you.

How do you want the community to respond to your disability?

Dee said she just wants people to treat her with kindness and friendship.