Williams Syndrome

Finally a diagnosis. Taylor was diagnosed with Williams Syndrome in Feb 2008. It had been overlooked before as her heart defect was diagnosed late (in March 2006) and her facial features are very subtle. Here is a list of the typical symptoms/characteristics and how they affect her:

Characteristic facial appearance
Most young children with Williams syndrome are described as having similar facial features. These features which tend to be recognized by only a trained geneticist or birth defects specialist, 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 Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age. Often referred to as "elf" looking.

Taylor's features are coming more noticeable as she gets older. You wouldnt think looking at her she has full lips or a "wide" mouth, however she has the classic smile. She also has a small, low set upturned nose. There are also lots of kids who totally look like they have WS and don't, so I don't know how much you can play into this.

Heart and blood vessel problems
The majority of individuals with Williams syndrome 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. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.
Taylor has a grade 4 heart murmur with thrill and an aortic valve problem that will someday cause her the need for a valve replacement, most likely in her mid 20's. Hopefully we see no changes on her cardiac echo next year!

Hypercalcemia (elevated blood calcium levels)
Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or "colic-like" symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.

Taylor's calcium has never been really looked at. Her doc did order a baseline level for her, which still needs to be done.

Low birth-weight / low weight gain
Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as "failure to thrive". Adult stature is slightly smaller than average.

Taylor was born with IUGR and while she appears tall, she has a hard time gaining weight and takes daily supplements to up her calorie intake. Most WS kids are extremely slow eaters and Taylor probably takes the cake for slow eating!

Feeding problems
Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.

Taylor still has choking/gagging episodes. She had a lot of suck issues as a newborn but they resolved pretty quick.

Irritability (colic during infancy)
Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.

Taylor's colic appeared at about 3 weeks and eased up at about 18 months....ugh

Dental abnormalities
Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.

Taylor's teeth are super small and she has the classic WS overbite. She goes to the dentist next week and currently has 1 loose tooth and has lost 5 teeth so far. (3 in the last 2 months)

Kidney abnormalities
There is a slightly increased frequency of problems with kidney structure and/or function.

Her kidney's have never been studied, but she has absent bowel and bladder control and FOUL smelling urine, i really do not think they are related to WS

Hernias
Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.
No issues

Hyperacusis (sensitive hearing)
Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.
Taylor has very sensitive hearing and at the same time, she can hear whispers in another room

Musculoskeletal problems
Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.

Taylor has hypotonia and her hands and fingers are hyperextensible.

Overly friendly (excessively social) personality
Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.

Have you met Taylor? No, doesn't matter, she would give you a big hug and leave with you no problem. It is scary and we have to constantly remind her to not touch other people and we don't hug strangers.

Developmental delay, learning disabilities and attention deficit
Most people with Williams syndrome have some degree of intellectual handicap. Young children with Williams syndrome often experience developmental delays; milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which appears to get better as the children get older.

Taylor's IQ tested in mild mental retardation range (62), due to her only being in 1st grade we are still seeing what her strengths and weaknesses are and they are affected differently in all kids and her education needs to be and will be tailored to Taylor's own needs. The only way I will try to use her diagnosis in her education is to help attain music therapy for her. Most WS kids have an affinty for music and Taylor is no different in this respect.

This is the diagnosis we waiting 5 years to get and honestly, compared to things we have been told they are sure she has or they have tested her for, this makes us happy. This is manageable and she will have an awesome life. She would have without the diagnosis, but to us the label meant quite a bit and we can help prepare her for her future!