Wednesday, March 21, 2012

Today is World Down Syndrome Day

March 21st is World Down Syndrome Day.  I probably wouldn't even pay attention to such things had we not had our sweet (and sometimes not so sweet, lately) cherub.  This date (3/21) represents the 3 copies of chromosomes 21, which is unique to people with Down syndrome.

What is Down syndrome?  Down syndrome is a genetic condition that occurs in approximately one in 691 live births.  It affects people of all ages, races and economic levels and is the most frequently occurring chromosomal abnormality. Down syndrome occurs when an individual has three, rather than two, copies of the 21st chromosome.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

What are some of the physical traits associated with Down syndrome?  A few of the common physical traits of Down syndrome are low muscle tone, small stature, and upward slant to the eyes, and a single deep crease across the center of the palm.  Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all.

All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.

What health issues are associated with Down syndrome?  People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.

Researchers are making great strides in identifying the genes on Chromosome 21  that cause the characteristics of Down syndrome.  Many researchers believe that it will be possible to improve correct or prevent many of the problems associated with Down syndrome in the future.  Life expectancy for people with Down syndrome has increased dramatically in recent decades--from 25 years in 1983 to 60 years today.

October is National Down Syndrome Awareness Month--There are more than 400,000 people living with Down syndrome in the United States

What a joy our Bri-Bri is to us.  We're so glad the Lord blessed us with this amazing and powerful spirit.

Oh, to be sure, she's not always pleasant to be around...lately she's full of yelling and tantrums when she doesn't get her way....as you can see in the photo above.  (She loves to play outside--she could hear her siblings jumping on the trampoline and wanted to join them as I took this photo.)

She absolutely LOVES music...every Sunday she's directing the congregation right along with the chorister. She's often singing--when she's not yelling in frustration, we're trying to teach her sign language, but she just doesn't want to use it with us--not that she can't she just won't.  That's another unofficial trait....I think the stubbornness trait must reside on the 21st chromosome too, because this girl has an extra dose of stubbornness.
Music often calms her too, when she's made we can get her interested in singing a song or playing the piano.
Bath time is another favorite...she loves the the bubbles, and water play.  Lately she's getting them quite often because she loves to play outside and get very dirty!!!
The above information came from a calender that the dsaco--Down Syndrome Association of Central Ohio produced.   Thanks Tiffany, Avery and Melanie!--and the rest of your families too!!

3 comments:

  1. She is an absolute delight and fun to watch and play with. We love her!! Great pictures.

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  2. I love how you called her a cherub. ☺

    Her smile is so amazing. There are so many times that I look on the blog and think how she just radiates sunshine.

    I would love to see her directing music one Sunday. That has got to be ADORABLE.

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