As The World Spinns

Friday, February 27, 2009

It's been a great week with the kids.
Michaela's been up and down, just off.

Dr. Pober's office called today. We're heading back down to Boston on the 11th. She wants to give her a thorough check and do an ultrasound of her carotid...this narrowing artery stuff.....BLAHHH!

1 Comments:

Penny said...: I am glad they are getting you in there. I will be keeping you and michaela in my thoughts and prayers.

Keep the faith; February 27, 2009 9:35 PM

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What Is Williams Syndrome?

Williams syndrome is a rare genetic condition (estimated to occur in 1/7,500 births) which causes medical and developmental problems. Williams syndrome was first recognized as a distinct entity in 1961. It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world. Williams syndrome is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes the protein elastin, which provides strength and elasticity to vessel walls. The heart and blood vessel abnormalities are caused by this lack of elastin.Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, 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.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 stenosis 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).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.
(adapted from the Williams Syndrome Association website)

As The World Spinns

Friday, February 27, 2009

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