Wednesday, October 1, 2008

What is Down Syndrome?

Some of you might not know this but October is Down Syndrome Awareness month and at this time support groups all across America will be having Buddy Walks to raise funds to support education, research and advocacy for people who have Down syndrome. Many people do not really know much about Down syndrome. I know that when my daughter was born I certainly did not. My knowledge of DS was limited to what I learned while watching Life Goes On which starred Chris Burke who has DS. Of course these days, people do not even know what that show is, let alone what DS is. All I knew was that people who had Down syndrome had intellectual disabilities (which wasn't how it was referred to at the time). I knew that they were now attending school with their peers, but I knew that it was tough because they were not on the same level as their peers. What I didn't know was that the mental aspect was only one of many conditions that accompany DS. Many people who have Down syndrome often suffer from heart defects, thyroid trouble, vision and hearing problems, and many other medical conditions. So just what is Down syndrome and how does having DS affect the life of the person who has it? While I will probably not be able to answer all your questions, let me at least start by sharing some basic information about Down syndrome.

First of all, you might want to know why it is called Down syndrome. Down syndrome (not Down's syndrome) was named for John Langdon Down an English physician who was not the first one to recognize its characteristics, but was the first one who classified them as a distinct condition.

Down syndrome occurs in 1 out of every 733 births and over 400,000 people in the U.S. have it. 80% of children with DS are born to women under the age of 35, although the incidences of birth do increase with the age of the mother. "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. " The most common traits are low muscle tone, upward slanted (almond shaped) eyes, and small stature. While all will have some cognitive delays most will have IQ's that only fall into the mild to moderate range of intellectual disability.

Down syndrome is a genetic disorder in which a person with DS will have 47 chromosomes instead of the usual 46. The most common form of Down syndrome is trisomy 21 (which is what Gess has) which is named such because it is the 21st strand of her chromsomes that has the extra one giving her three, rather than the usual pair. They believe it does this because the cell does not separate from either the sperm or the egg at or before conception and the extra chromosome is then replicated into every other cell in the body. About 95% of all cases of Down syndrome will be due to trisomy 21. The other less common forms of DS are mosaic (where some of their cells have 46 and others have 47) and translocation (where part of the 21st chromosome breaks off and attaches to another one).

There is a genetic test which will determine if your child has Down syndrome as it is not the type of condition which is diagnosed by looking at the symptoms alone. (If you want any assistance you can't get it without this test) They will draw some blood and look at the cells and will be able to see the condition. My daughter's test looked something like this. Notice how each chromosome is in pairs except for the 21st which has three.

So now that we know what Down syndrome is, what does it mean for the future of a person who is diagnosed with DS? In my next blog I will share both the positive and negative aspects of such a diagnosis. As you probably realize I will certainly be emphasizing the positive for I do not believe that the diagnosis of DS means that a life is not going to be fulfilling. Of course some of us may have to change the definition of what a "fulfilling" life must contain. I know I certainly had to readjust some of my priorities, but having done so has not only improved my daughter's life but my own as well! Life is what you make of it. That applies to every one of us with or without DS. At any rate, I hope you now have a little better understanding about what Down syndrome is. If you want to learn more visit the link below:

National Down Syndrome Society - About Down Syndrome

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