Williams Syndrome
What is Williams Syndrome (Ws)?
Ws is a rare genetic condition previously thought to occur in approximately 1 in 20,000 live births. It is now believed to occur in 1 in 7,500 births. This number has recently changed as a result of greater awareness, better diagnosis (there is a genetic blood test discovered in 1993) and more adults are being diagnosed. Despite increasing awareness most people we’ve met have not encountered many if any children with Ws before, and understandably know little about the characteristics and difficulties associated with the condition. Ws results from a sporadic deletion of the elastin gene and approximately 20 other genes on 1 copy of chromosome #7, this deletion causes a striking mix of physical and developmental characteristics. It affects males and females equally and occurs in all ethnic groups.
What are the Characteristics of Ws?
The severity of symptoms varies greatly among individuals with Ws, it can cause serious health concerns like heart and digestive problems and high blood pressure. Infants with Ws are often very irritable and may have hypercalcemia, an elevation in their blood calcium level. Low muscle tone is common and Ws affects a person’s motor skills. Things like handwriting, tying shoes and other fine motor activities are extremely difficult along with activities that require balance and depth perception like going up and down steps and riding a two wheel bike. Knowing where their bodies are in relation to the world around them does not come naturally. People with Ws often have very sensitive hearing and unexpected loud noises, babies crying, thunder, fireworks etc. are perceived as painful.
Who is Sophie?
Sophie Gerding is a five year old girl that lives in Philomath with her parents Nate and Heather and her sister Ava. Sophie is very outgoing, loves meeting new people, she adores her large extended family and sings happily all through her days. Sophie was diagnosed with Ws at 7 months old. As a result of Ws Sophie has physical and cognitive disabilities. Sophie has Supra Valvular Aortic Stenosis (SVAS), which is a heart condition that is very specific to Ws and is what often leads to a diagnosis. It is a narrowing of the aorta which for many children with Ws requires surgical intervention. Sophie’s SVAS is monitored by a pediatric cardiologist and should not require surgery.
More about Sophie and Ws:
People with Ws have similar facial features such as puffy eyes, small bulbous upturned noses, wide full lips and small widely spaced teeth. Most individuals with Ws tend to have an impulsive and excessively outgoing personality. Many with Ws are highly talkative, sociable and affectionate. Sophie is no exception, she never meets a stranger and she is very sensitive to how others are feeling. Sophie loves music and sings more than most children. An affinity toward music is more common in Ws than in the typical population. It is a guarantee that Williams Syndrome brings a rather severe learning disability in visual spatial tasks. Sophie struggles with fine motor tasks like handwriting. She is very challenged by tasks that require balance and will struggle with poor depth perception for the rest of her life. Of course our goal is for Sophie to live an independent adult life in which she supports herself. Yet because Sophie was born with Ws and 75% of individuals with a disability remain unemployed we are formulating a “plan b” to help ensure she will have the support she may need to lead an independant life where she has choices and purpose.
For More Information on Ws Visit:
The Williams Syndrome Association
The Williams Syndrome Foundation
Williams Syndrome in the news:
July 19, 2007 Good Morning America had a segment on WS.
July 20, 2007 WNYC had a segment on the Leonard Lopate show.