Saturday, March 21, 2009

Today is Wold Down Syndrome Day!!!!

March 21st......3- 21 (ie three 21st chromosomes) what causes Down Syndrome.

Down syndrome
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Down syndrome Classification and external resources

From Wikipedia........ http://en.wikipedia.org/wiki/Down_syndrome


Down syndrome, Down's syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome.


It is named after John Langdon Down, the British doctor who described the syndrome in 1866. The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959.


The condition is characterized by a combination of major and minor differences in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome in a baby can be identified with amniocentesis during pregnancy or at birth.


Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. A small number have severe to profound mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by the age of the mother. Other factors may also play a role.


Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes. They may include a single transverse palmar crease (a single instead of a double crease across one or both palms, also called the Simian crease), an almond shape to the eyes caused by an epicanthic fold of the eyelid, upslanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, poor muscle tone, a larger than normal space between the big and second toes, and protruding tongue. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.


Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life.[1]


This is one of the nicer descriptions of T-21 (new abbreviation) uses the appropriate new terminology, cognitive disability versus retardation...... still lists all the horrible things that could be wrong (again I don't disagree with those)..... in fact I think my kiddos have some if not most of those things.

But it doesn't mention any of the positive, fun & somewhat irreverent things Eric & I have gotten to experience......

  • fierce love that does not matter what is on TV or we are having for dinner or how much money we mad or didn't make that day

  • an understanding that God does make "mistakes" though my children are not one of them (I am thinking TICKS...... feed the birds something else)

  • what unconditional love really is.....parents of typical children (which I know have 2 1/2.....decision still out on Emerson!) get some of this but my other five bring me so much and I found I have a lot more for them

  • how happy they have made my life with new friends, lots of things to do (I swear I have my own parking spot at the hospital & doctor's office) and occasionally I do feel like I went to medical school

  • I have learned about prejudice too...... didn't have a lot of experience with that before..... but people are either warm and accepting of my children or they are hateful....... can't look at them or make rude comments....... that is the hardest thing..... but there are lots more good ones than bad
  • how to have a lot of fun doing normal things....like eating french fries or brushing teeth or sweeping the floor or doing laundry
  • that bouncing can be a whole family activity
  • that it is physically impossible for all of to go somewhere and all come home in exactly the same clothes

So here are a few photos of my kids........ doing what they do best..... being kids











HAPPY WORLD DOWN SYNDROME AWARENESS DAY!!!!

1 comment:

Nancy said...

I love that pic of Miranda hugging Daddy!