What Williams Sydrome isn’t, it is not fatal!!  Williams Syndrome patients can live successful and productive lives with the assistance of their families, full-time caregivers and/or in assisted living facilities. 

Each WS individual can be very unique in their presentation of their physical characteristics and developmental challenges.  A short video of Our Beloved Sophie to show how joyfully extraordinary Williams Syndrome patients can be and all they can accomplish.

Williams Syndrome patients have a distinctive appearance.  They are small in stature, prominent lips with an open mouth, small or widely spaced teeth with an inward bend of the small finger (clinodactyly) and a sunken chest (pectus excavatum).  Williams Syndrome individuals have a distinctive elfin or pixie-like beauty.

Williams Syndrome is a rare (1-8,000) genetic syndrome. This syndrome can be detected with a genetic FISH test.  There is a very small population of WS patients recorded that do not test positive when genetically screened but have ultimately proven to have Williams Syndrome.  They are the most difficult cases to diagnose.  Williams Syndrome originates from a deletion of 25 genes on the #7 chromosome.  One of the 25 missing genes is the elastin gene which is responsible for arterial stenosis (narrowing of the artery) in the heart, i.e. supravalvular aortic stenosis, aortic valve stenosis, pulmonary stenosis, and pulmonary artery stenosis.  Other medical problems continue to co-exist such as: opthalmologic problems; gastro-intestional issues, i.e. colic, GERD, severe reflux, vomiting; ENT issues; delayed motor development; kidney issues; high blood calcium levels, which can cause seizures or hypertonia (rigid muscles).  Williams Syndrome patients also have varying degrees of blood pressure challenges.  These are some of the major medical circumstances a Williams Syndrome patient will most likely navigate through.

The other missing genes contribute to a very complex and extensive list of medical issues.  That list from head to toe can include but, is not restricted to the following: neurological deficits or dysfunctions, i.e. ADD, easily distracted, anxiety issues, Sensory Integration Dysfunction; learning disorders and speech delays.  Even though speech development is delayed in most cases, once started their speech can become very loquacious.  This characteristic tends to suggest a higher level IQ in a WS individual.  This may throw unsuspecting people off when they discover the individual they have been talking with has Williams Syndrome.

The most extreme cases these medical complications render a Williams Syndrome patient in a considerable amount of pain on a daily basis.  Each Williams Syndrome individual may require a medical specialist for every system of their body and require various kinds of physical and occupational therapies to achieve the best quality of life possible.

However, their personality profile does not convey pain.  They are the personification of joy. Their exuberance for life is contagious!  They express an unconditional love for any person they come in contact with.  Stranger is not a word they comprehend.

In addition to loving on others and befriending all, Williams Syndrome infants/children/adults love music and imaginative play.  They do have hypersensitive hearing; so pitch, tone and speed of music is important to monitor, especially in infancy; 70-90 beats per minute is suggested throughout infancy.  This soothing tempo matches the heartbeat of their Mother while in-utero.

Death occurs in a microscopic fraction off Williams Syndrome patients and usually is the result complications that arise from general anesthesia during surgery or from heart failure due to the narrowing of their blood vessels, generally during the first two years of life.

Refs:

Williams-Beuren Syndrome

(www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105)

Williams Syndrome (www.en.wikipedia.org/wiki/Williams_syndrome)

K.A. Henkel (personal medical files of Sophie Elise Henkel WS patient: 3/24/07- 10/18/09)