Biology 103
2002 First Paper
On Serendip

When I was 14 years old, my baby boy cousin was born. I was thrilled to have another cousin since I only had 2, both of which were much older than I. However, as the years passed, I noticed that my cousin looked neither like my aunt or uncle; he had puffy eyes and thin lips that resembled nothing of his parents. Soon he was 3 years old and still illiterate aside from the fact that he mumbled words or beats to songs, which continued for the next few years. Compared to other children of his age, he was lighter in weight and very active- active to an extent of being violent and hurting others around him. It was obvious that smacking other children was his way of showing affection in order to make friends; he didn't realize what he was actually doing since he smiled and laughed while the other child cried. However, after noticing that he could not make friends this way, he would get rather irritated and run crying to his mom. My cousin grew more and more aggressive and impatient and above all, because he was still illiterate, my aunt and uncle could not send him to a 'regular' nursery school. When he turned 5, I asked my parents if he would remain illiterate and what the consequences were. 'He has Williams Syndrome' my parents answered, 'it is very rare with no cure.'

It has been 7 years since my cousin has been a part of my life and I only recently knew what exactly he was 'wrong.' Because this is such a rare disorder that many people have never heard of, I thought it would be a great opportunity to research further what the symptoms are, and create awareness to those who have never heard of Williams Syndrome before. My cousin is now 7 years old with features and characteristics much like what I have researched below.

Williams syndrome is the deletion of one of the two #7 chromosomes and is missing the gene that makes the protein elastin (a protein which provides strength and elasticity to vessel walls) (3). Named after cardiologist Dr. J.C.P. Williams of New Zealand, it was recognized in 1961 (2). Dr. Williams recognized a series of patients with similar distinctive physical and intellectual characteristics. It was soon discovered that Williams syndrome is a very rare genetic disorder, occurring in about 1/25,000 births- the Williams Syndrome Foundation only hears of 75 cases a year (1) (4). The disorder is present at birth but its facial features become more apparent with age. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with this syndrome can have a prominent "starburst" or white lacy pattern on their iris (1). This disorder has a 50% chance of passing it on to his or her children. There is no cure to Williams Syndrome.

Those with Williams Syndrome have some degree of intellectual handicap. Children with Williams Syndrome experience developmental delays such as walking, talking and toilet training. After my cousin started to walk (at the age of 3), he walked on his toes instead of from heal to toe and 'tipie-toed' wherever he went, which he still continues to do. Distractibility is often a problem, but gets better as they grow older. They also demonstrate intellectual strengths and weaknesses. Their strengths can be speech, long term memory, and social skills, while their weaknesses can be fine motor and spatial relations. People with Williams Syndrome have extremely social personalities (2). I can recall a time when my family was at a restaurant and my cousin suddenly jumped from the table to say hello and waved at other children there. He does this to people of all ages, color, and sex. His friendly gesture puts a smile to everyone's face. They have unique and expressive language skills, and are extremely polite. They are unafraid of strangers and show a greater interest in contact with adults than with children of his own age (2).
People with Williams Syndrome can have significant and progressive medical problems. The majority of them have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries (3). There is an increased risk for development of blood vessel narrowing or high blood pressure over time.

Children with Williams Syndrome may have elevations in their blood calcium level. Children with hypercalcemia can be extremely irritable and therefore may need dietary or medical treatment (2). In most cases, the problem is resolved naturally during childhood, however the abnormality in calcium or Vitamin D metabolism may continue for life. Along with these abnormalities, many children have feeding problems because of low muscle tone, severe gag-reflex, and poor sucking and swallowing. Because of this most children have lower birth-weight than their brothers or sisters and their weight gain is slow (2). My cousin has a younger brother, now 4 years old, who is more 'plump' looking than his brother. I am assuming they would be the same height in a year or two; my cousin with Williams Syndrome is small for his age and is not as tall as the average 7-8 year old. As a result, they are smaller than average when fully mature.

Although my cousin may have 'weaknesses' and 'differences' from the average human, he shines in his other uniqueness and qualities that should be considered before categorizing him as 'the one with a disorder.' From this research I could conclude that despite the possibility of medical problems, most people with Williams Syndrome are healthy and lead active, full lives.

References

1)The Williams Syndrome Foundation, The umbrella organization for Williams Syndrome foundations, groups, and sites.

2)The Lili Claire Foundation, An organization made from one family that dealt with Williams Syndrome

3)Medical Site on Williams Syndrome, a detailed medical site on Williams Syndrome

4) The Williams Syndrome Foundation UK, The UK Williams Syndrome Foundation


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