Williams Syndrome (WS) was first recognised medically in 1961. It is a little known genetic disorder affecting an estimated 1 in 25,000 live births and is caused by a spontaneous mutation in chromosome 7, in the gene responsible for elastin production. A normal adult who has a WS baby is extremely unlikely to have another child with the disorder, however if a WS adult has a child, that child has a 50% chance of inheriting the syndrome.

WS individuals have mild to severe learning difficulties and a range of psychological and physical abnormalities which when combined are a good indication of WS.

Diagnosis.

In the past, many cases of WS went undiagnosed due to the rarity of the syndrome and the difficulty in spotting it in very young infants - the physical signs are not as pronounced as they are in Down Syndrome. WS babies tend to be irritable, collicky and fail to thrive; they usually have a low birth weight and difficulty feeding. Since the knowledge of the chromosomal abnormality and advances in cytogenetics it has been possible to test for WS by taking a blood sample and checking for the elastin gene (FISH Test ).

Physical characteristics.

Most WS have 'elfin' facial characteristics - a wide mouth, a small flat nose and wide-set eyes, often with a squint. Teeth are usually small, widely spaced and irregular, often requiring dental work. Children are usually small for their age and develop into short adults. Many individuals have heart, circulatory and digestive problems as a result of the defect in the elastin gene. Very high blood pressure is common, as is hypercalcaemia (too much calcium in the blood), both of which are treatable.

Behavioural characteristics.

Young children are often slow to learn to talk, but when they do master it they are sociable, chatter incessantly and quickly develop extremely good linguistic skills. They are easily distracted, often hyperactive, but are very friendly (sometimes innapropriately - especially towards adults), amenable and will always try hard to please. Initially one would think that they are mature beyond their years but closer analysis of their conversation shows a lack of comprehension and inability to grasp certain concepts. The world is very 'black and white' to a Williams individual and they find it hard to compromise and reason. They remain this way all through their lives - articulate but very naive in their understanding of a given situation.

Other symptoms include:

  • anxiety attacks, depression and tendency to worry about even simple things
  • emotional immaturity - adults over-react to situations whether it is by giggling, crying or being afraid of (to us) the least thing.
  • hypersensitivity to sound - a sudden loud noise can reduce an individual to tears or they will have a panic attack; however they frequently have an aptitude for music.
  • visuo-spatial difficulties - drawing pictures can be difficult, not only because of the motor skills needed but where to place the objects on the page. Problems with maths.
  • fear of heights and uneven surfaces - stairs are sometimes a problem for them
  • problems with fine and gross motor control - they have great difficulty with handwriting, for example, or tying shoelaces.
  • a tendancy to get 'obsessed' with certain topics, objects or people. They will ask the same question again and again. They do have a good memory however, especially about their favourite topics.

http://nasw.org/finn/ws.html
http://www.williams-syndrome.org.uk/

The senior camp counselor who briefed us on our new arrivals referred to him as a "fifth counselor." (Counselors were typically four-to-a-cabin.) Bright, they said. Cheerful. Won't give you any trouble. No behavioral problems. Mild disability. A delight to be around. Very friendly. He hopped off the bus that morning: sixteen-year-old Marcus, with squinting, silvery eyes, a scraggly teenage goatee, and a wide smile. Within an hour of his arrival he had shaken hands with every single counselor at the camp.

I had to admit, it was nice to have a camper who was not only behaviorally stellar but who even offered to help with the other campers. We didn't have to wipe for him, chase after him, or cut his food. He was incredibly cheerful and could hold a conversation with anyone, anytime. His Williams Syndrome made him sociable and likeable.

Then he started to sit too close to the female counselors. He tended to monopolize their time, and there were hints of inappropriate behavior. The male counselors found it unnerving when he'd lay his head on their shoulders or hold their hands. Apparently, there was such a thing as too friendly. The Denver Broncos jersey he insisted on wearing every day had started to smell. His ongoing, nearly-obsessive conversation about paintball became annoying to some. The word talkative was often applied, with the implication that a little less talk would be a good thing.

(I should mention that we generally had two types of counselors: the ones who worked there because they genuinely liked the work and wanted to go into the health or psychological professions, and the ones who worked there because it was the only type of work they could get. Then, of course, there were the high school students trying to get essay topics or "extracurriculars." The ones who did most of the complaining were mostly the last two.)

By the time it was time for the campers to go home, Brad (a perpetually-stoned, gambling-addicted counselor) had declared Marcus his least-favorite camper — outside his hearing, thankfully. He and other counselors in the cabin would often opt to work with the more behaviorally-challenged campers rather than listen to Marcus go on about his paintball gun or ask them repeatedly to tell him stories.

I felt bad. Not just because I listened to the other counselors complain about him, but also because even I began to feel frustrated at his constant chatter and unwanted embraces. I never clued him in on how I was feeling, but sometimes I wanted to say No, I don't want a hug. Please, just take your nap. If many of the campers demanded physical labor — wiping, teeth-brushing, sunscreen-applying, wheelchair-lifting — he demanded emotional labor.

If someone who genuinely loved the work like I did couldn't muster up enough good feelings about Marcus to want to listen to him repeat for the fifth time what kind of paintball gun he wanted to buy, how was the world going to treat him once he grew up? What would happen to him once he was among people who weren't being paid to make sure he had a good time? He wanted — neededpeople to listen to him. Hugs seemed not just a nicety but a necessity. These things made him happy, and I worried that once outside school, home, and camp, he'd be denied them.

This wasn't just Marcus's problem. He and other developmentally disabled kids needed things that not everyone was prepared to give them. Their parents and teachers can only do so much. Sooner or later the outside world is going to be there to stare, make rude remarks, or give their requests for conversation or affection a resounding No. Marcus seemed socially intelligent at first, but was particularly unable to understand when others were uncomfortable or bored. This could be a problem at a workplace, where productivity could be hampered by small talk with customers or endless conversations with coworkers. Acting inappropriately around women could get him in trouble. It was sad to know that the gift for sociability that he had because of his Williams Syndrome was something that might hold him back later in life.

Then again, I probably shouldn't worry about him. I'm sure he's received plenty of stares in his life — people have probably been rude to him — he might have been picked on in school — maybe he's been turned down for an after-school job or two. He's probably learned to handle this stuff. His relentless cheerfulness will come in handy, as will his brightness. I sit here and mentally list the jobs he could do. The list gets longer and I stop worrying.

(Names and identifying details have been changed.)

 

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