My Life with Williams Syndrome

While we were researching, we found this video about Nicki Hornbaker, a teenager with Williams Syndrome, that was posted by the New York Times a few years ago. We loved the video, and knew we had to include it in our blog to share.
My Life with Williams Syndrome

Music and Williams Syndrome

While we were researching, we discovered this article that told us how some people who had Williams Syndrome reacted differently and more intensely to the playing of Elvis Presley's song than those individuals who were not effected by WS. We found this extremely interesting, and have included the link to the article below so you can read it too.
Williams Syndrome patients can’t help falling in love when hearing Elvis Presley song ‘Love Me Tender’

Williams Syndrome Association

This is one of the associations recommended to us by the mother of the child with WS! J

They frequently hold different get-togethers for families and individuals affected by Williams Syndrome.  The WSA provides information and support for different kinds of people so they may cope and understand the condition; such as:  Steps for parents to take, along with grandparents, teachers and doctors. As well as facts for  researchers, friends, and those who are curious about the topic. They also collect donations for assisting and paying for various medical bills and the like. The link to their website is to the right under the "Helpful Research Links" tab. 

Life with Williams Syndrome: Interview

We had a conversation with a woman whose son attends our high school about the complications and impact William’s syndrome has on her son’s life. Here’s what she responded with:

“What is everyday life like for Garrison?

A: He is very anxious about noises (especially dogs and children screaming and crying) in his environment which is very distracting to him and keeps him from staying on task and doing a lot of things. He has difficulty with fine motor tasks and certain concepts (especially math and time) and needs assistance with personal care. He sees himself as having many friends, but no one ever calls or wants to hang out with him, so he is quite lonely at times. Garrison spends the majority of his day listening to music or watching videos which makes him happy; however he does this by himself because he likes to rewind things over and over again (a stimming behavior). He has a need to greet and get to know anyone who will talk to him, and has no judgements or prejudices (which means he can easily be taken advantage of and has no fear of strangers).

Is there anything William’s Syndrome prevents him from doing?

A: Garrison is not prevented from doing anything because he has WS. It's his lack of abilities, sensory issues, and anxieties which prevent him from doing certain things.

What was it like finding out he had William’s Syndrome?

A: Devastating and hopeful and the same time. We didn't know what was wrong with him, and when we finally found an answer, at least we knew where to go from there. It's difficult knowing your child will have so many challenges ahead of them.

How old was Garrison when he was diagnosed?

A: Around 2 years old.

What kind of testing, if any, did Garrison have to go through before being diagnosed?

A: We did a Child Check with the county which recommended we see a speech therapist, who recommended a certain pediatrician, who suggested he get a FISH test or micro-array analysis which came out positive for WS.

Are there any organizations that you are involved in as a family that could help others cope with having a child with Williams Syndrome?

A: The Williams Syndrome Association has a website, Facebook, list serve, conventions, and regional events for families with WS. There is also a Williams Syndrome Clinic at Nationwide Children's Hospital.”

Life with WS

There’s no specific life expectancy. Some people are “alive and well” in their sixties. The disorder is incurable, a lifetime ordeal. However, physical therapy may help to make the person with WS  more comfortable.  Physical therapy will help for the bones of the individual to stay loose instead of stressed, and  it will help to keep their bones growing. By carefully monitoring blood levels, it becomes easier to avoid further heart and artery problems. Since most with Williams Syndrome struggle with hearing and seeing to the full capacity, therapy in this area helps also.

Interesting, Typically Unknown Facts about Williams Syndrome

• Blue and green-eyed children with Williams syndrome can have a prominent "star-burst" or white lacy pattern on their iris. Notice how there is one color and then another seems to have exploded inside of it?  
  
• Many are very musical and are “touched by music in a different way than the general population”
• “Williams Syndrome is commonly used in the United States, while Williams-Beuren Syndrome is widely used in Europe," but they’re the same thing
•  Most of those affected are very outgoing, friendly, and talkative
• No two individuals have the exact same symptoms or disabilities 
•  Most have extreme anxieties-or phobias- or are easily agitated.
• By the time the person impacted is middle-aged, they will most likely have some sort of diabetes as well as significant hearing and vision loss.
•  Many individuals have a problem eating, and are then skinny and unable to gain weight. 

Causes of Williams Syndrome

Unless one of the parents is a carrier of Williams Syndrome themselves, it is not passed on to the child. Still the condition the parents are in may impact whether or not pieces are deleted. The older the parents get, the greater the chance a genetic disorder will occur. Also, if either partner has a history of chromosomal abnormality or are carriers of a recessive gene, their chances of having a child with a genetic disorder again increase. 1 in 10,000 people are diagnosed with Williams Syndrome worldwide, and about 20-30,000 are diagnosed  in the US. Williams Syndrome is found equally in  men and women. Individuals with Williams Syndrome are usually the only ones in their family who carry the disease.  The deletion happens as the baby is forming, and is not due to (or passed down by) the parent. If, for instance, the parents had another child, the chance for that child to have Williams Syndrome would be near nonexistent because the deletion does not occur in the parent, but in the forming fetus. On the other hand, if the person with Williams Syndrome decided to have a child, the chance of passing the deleted piece of chromosome on is about 50%.

Testing to Find WS

Diagnosis is usually made during infancy if there are heart problems. It is also possible to diagnose someone with Williams Syndrome after they have been introduced into a school, but seem to learn much slower than they should be. The diagnosis is confirmed by a full physical and mental examination of the person; this is performed by a doctor who is familiar with the genetic disorder.

Because Williams Syndrome is a genetic disorder, it is possible to check DNA samples from the mother’s womb during her pregnancy.

One way to do this is by a prenatal test performed between 10 and 12 weeks of pregnancy called Chorionic Villus Sampling. This kind of testing is done by removing a small amount of tissue from the placenta. In the placenta, there are finger shaped growths known as the Chorionic Villi. The tissues in these tiny organisms are made of the same genetic makings the baby is. The sample is taken one of two ways. The first is inserting a flexible tube into the vagina and cervix of the mother. The second is taken by withdrawing samples through a needle put into the belly; the needle is then guided into the placenta by ultrasound. The percentages for possible danger are low, however, they still occur: the tests can cause fetal damage or a miscarriage.

The second way to text for Williams Syndrome is by Amniocentesis. Done between the 16 and 18th weeks of pregnancy, it involves taking a bit of amniotic fluid from the fetus (amniotic fluid is the liquid surrounding the developing baby). Before the sample is taken, the baby is carefully studied by ultrasound to discover it’s most fundamental and basic anatomy so the needle will be guided into the right place. This is the longest part of the entire procedure. Then a needle will be inserted into the stomach and withdraw about two tablespoons of amniotic fluid from the placenta.

Both of these tests can be performed to give an idea of a possibility of a genetic disorder; still, the test is not conclusive. Meaning the results may come back opposite or non-corresponding to the baby’s actual state of being. The test does not ultimately confirm the fate of the developing infant. It is also possible the test executed may cause damage to the fetus or a miscarriage. The chance is unlikely for either to happen, but still must be addressed.

A test that is not commonly used, and not commonly heard of is called a FISH test. This test is expensive, but is essentially a biopsy on chromosomes. The chromosomes being inspected are dyed with fluid and then looked at under a microscope.

Some symptoms that may be cause for testing:

·         elevation of blood calcium levels

·         low birth weight, slow weight gain

·         heart and blood vessel problems

·         feeding problems (usually from 4-10 months)

·         problems in kidney functions

·         sensitive hearing

·         low muscle tone (joint stiffness as they age)

·         developmental delays

·         learning delay

What is WS?

What is Williams Syndrome?

Williams Syndrome was discovered by Dr. J.C.P. Williams in 1961. He realized Williams Syndrome is a genetic disorder caused by a deletion of a section of chromosomes after noticing many of the patients who came to him to have open heart surgery were characterized by similar physical and personality traits. When a section of the genes is dismissed or missing, it causes Williams Syndrome. It is possible individuals can be more affected than others by the illness, because the length of the deletion varies. If we compare the length of the strand to numbers, let’s say there are 100 different pieces. In one carrier, 23-34 may be deleted and this person may be hardly hampered. If in another 12-76 are deleted, this person will be more disabled from the disorder than the first because more sections were deleted. To the right is what the DNA strand looks like before and after the deletion of the chromosome. 

Stanford University conducts studies on the neural system part of Williams Syndrome, their website might also be of some help if you are researching Williams Syndrome. Williams Syndrome at Stanford