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This site is dedicated to families with a recent Williams Syndrome diagnosis. It is not as rare as it feels and you are not alone!
Williams Syndrome is a genetic condition which causes many medical and developmental challenges. It occurs when a particular chunk of DNA is deleted from one parent's contribution to his or her offspring's total genetic heritage, or genome. Every cell in Mary's body is missing that DNA section and thus is also missing one of the two copies of all the genes -- something like 30 of them---normally residing there. The effects of the missing DNA are striking. Perhaps foremost among them a pronouncedly uneven pattern of learning and thinking ability --strong in verbal and musical skills, very weak in computation and in spatial reasoning. Williams patients' bumpy intellectual profile and their engaging friendliness can obscure the plethora of physical symptoms that often beset them. The severity of heart problems may vary but are key for early diagnosis. Mary's diagnosis at 16 months was triggered by her failure to thrive. Elevated blood calcium levels, low birth weight or low weight gain, feeding problems, colic, hernias, sensitive hearing, low muscle tone, are just some of those physical problems. For Mary, our developmental concerns focus on walking and talking. Early intervention has helped her make remarkable progress in these areas. Mary does not have sensory problems, sensitive hearing nor show signs of spatial reasoning deficits. She does suffer from constipation, low weight gain, and heart problems. Her low muscle tone is what I mainly contribute to her delays in walking and speech, my efforts now, I hope, will help Mary develop proper posture and strength to avoid some of the other common anomalies afflicting those with Williams Syndrome, such as contractures and premature arthritis. This web site is dedicated to those families with a recent diagnosis. Its intention is to share how we, as a family, live daily with Mary's special needs. Maybe you are wondering what changes your own family may adjust to, or maybe you would like to share in the many similarities our Williams children have. We hope you enjoy your visit and will share your comments or suggestions. mary@thefencingpost.com
You are visitor This page was last updated on 02/23/00.
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