What Is Williams Syndrome?

I've had a number of people ask me what exactly is Williams Syndrome. Although we are still learning what Williams Syndrome will mean to Clare, here is a broad "definition."

Williams Syndrome is a rare genetic disorder that was first recognized in 1961. It is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes the protein elastin, which provides strength and elasticity to vessel walls. The heart and blood vessel abnormalities are caused by this lack of elastin (thus explaining Clare's heart defects). Children with WS share similar facial characteristics — a small upturned nose, a starburst pattern on lighter eyes, a wide mouth, and puffiness around the eyes. Clare has these features (and is so cute!).

Other characteristics include sensitive hearing, poor muscle tone, difficulty with eating and sleeping, eye problems, developmental delays, learning difficulties. Thankfully, Clare does not have difficulty eating (she loves to nurse!). She will have her hearing and eyes checked in a couple weeks. She does have poor muscle tone and the sleeping thing is iffy (she is a baby so I am not going to attribute any sleeping habits to WS!). Many also have an affinity for music - we have noticed that Clare quiets down when I play the piano. Clare also has hypothyroidism and borderline hypercalcemia - two conditions often seen in WS.

Williams Syndrome was once thought to occur in one in 20,000 births. New research has determined that it occurs in one in 7,500 births, yet there are fewer than 10,000 diagnosed individuals in the U.S. Many people with WS are undiagnosed or diagnosed at a relatively late age, even with the available genetic screening (FISH test). This is of concern because WS can result in significant and progressive medical problems. We feel blessed that Clare was diagnosed at such a young age so we can stay on top of these problems as they develop.

If you're interested in more information, here are two great websites:
www.williams-syndrome.org
www.wsf.org