A genetic disorder that affects 50% of the children born today. This syndrome was named in 1967. It is a deletion on the long arm of chromosome 7. Although with continued research, they have found that there are other chromosomes affected as well. Some children with the symptioms go undiagnosed, because the deletion is not present. Williams syndrome is passed from mom to baby, although mom may not show any of the charectoristics. it is primamily passed to the baby boy. Who cannot pass it to his children.
1. elfin-like facial features
2. short staure
3. failure to thrive as an infant
4. congenital heart disease
5. hernia presant at birth
6. speech delays
7. intolerance to lactose
8. delays in fine-gross motor skills
9. delays with cognitive learning
10. social skills may be delayed
11. Mental retardation
12. may have excellent skill levels in math, but suffer in all other areas
13. Depressed nasal bridge
15. Strabisnis Cross eyed
16. early tooth degenration
The prognosis for williams syndrome is very good. Provided it is caught early. Parents need to be aware that the child will need support, and special training, early intervention is the key for these children to succeed.
1. Speech therapy
4. Physical therapy
My sons story
When I had my ultrasound, found out I was to have a boy, I cried. I knew then my life would never be easy again. Passed through the generations of our family the boys born on my mother's side had most of the charactoristics talked about above. Throughout the generations noone has persued the why's, of this.Noone ever persued what the disorder or syndrome could be. Some aunts in denial, not wanting to find out for fear they will be given bad news. This to me is denying help to the child in question. If you had a choice to catch the problem early and have a better end result or not knowing at all. That child never being able to live as a normal child would which one would you choose. I personnaly want the best for my son. I want to know that I have provided him with all the ammo that is needed to survive in this unforgiving world. I want him to grow up feeling like he can achieve the goals he sets for himself as an adult. Unfortunately, I feel that some family members are denying they're son this. It truely saddens me.
In the last five generations, I am the only one who has pursued finding the answer's. I have passed the word to my female cousins that if they have a boy, This syndrome will be the life of the child. For there is no forgiveness, it is passed from one to another with no weakening generation to generation. This in fact will not skip any male child born. That's why I refer to it as unforgiving. That is why I have devoted my adult life to finding answer's no matter how alarming, scarey they maybe. I'm trying to aid in the awareness, so that future generations know what to expect and know how to help the child. They then have the ability to decide if they have the heart and patients to be a loving parent to a special child.
Jeffery weighed 5lb 8 oz at birth, he was very demanding in every aspect. Needing to be fed every thirty minutes. He had a double hernia operation when he was 3 months old. he did'nt walk until he was about eighteen months old. He said ten word by the time he was 3. At that point I enrolled him in speach therapy. It was a very busy time for me. He had seen the speech therapist, Endocrinologist, Cardiologist, Occupational therapist, too many to name. He was enrolled in a speech based program for a two year term. Then, paced in a developemental kindergarten program for another two years. He is now seven, going into kindergarten next fall.
During the past few years, he has made it well known that he has ADHD, with a Defiency disorder. He shows no sense of cause and effect. He has pushed my daughter down a flight of stairs more than once. Scatched at her eye's, Beat my cat. Slammed the cat against the wall, killing it. The kitten was three day's old at the time. He has thrown his toddler bed, toybox, mattress down the stairs. He exposes himself on the bus, laughs, thinking it's cute.This is just a small portion of the things I as a parent face daily.
I had him put on ritolin two years ago, we had him regulated at 45 mg a day. When he ran out they refused to refill it reporting me as a drug seeker. When CSD came to visit me, I explained his condition, my position , started crying she gave me direct orders to quit thinking only of him, begin taking care of myself. By doing more for me. Some where along the line I worried more about my families needs and forgot about mine. As a mother I find it very difficult to stop and think about myself.
Poem used With the permission of Sister Dizzy.
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