OK...I am idiot...it wasn't yesterday it was a week ago! One week on vacation and I can't even function afterwards or know what the hell day it is. I am hoping your news was o.k. If you get a chance email me a note and let me know what they said.
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)
In Loving Memory Blake Matthew Hill
July 6, 2007-February 26, 2008
About Me
Laura
New Hampshire, United States
Married to Mark since 1992. We have two amazing kids, Aaron, 14, and Michaela, 10. Michaela was born with a rare genetic disorder called Williams Syndrome.
7 Comments:
great big HUGS. (to both of you)
I will be saying little prayers for you all day.
Just wanted to let you know that I am and have been praying for Michaela!
Erik's Auntie Dee~tah
sure hope that all went well, I will keep you both in my prayers
Just wanted to check in and let you know I am thinking and praying for your family.
Tes
I didn't realize today was the day...I am sorry..
I am hoping and praying that everything is as smooth as can be and that you can find some peace.
I love you both
xoxo
OK...I am idiot...it wasn't yesterday it was a week ago! One week on vacation and I can't even function afterwards or know what the hell day it is. I am hoping your news was o.k. If you get a chance email me a note and let me know what they said.
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