Monday, October 22, 2012

Do You Know the 3 Genetic Variations of Ds?

October is Down Syndrome awareness month.  I’ve enjoyed browsing various Facebook status updates this month related to Down syndrome facts and awareness.  I’m still pretty clueless about all the Down syndrome facts, but one thing I know for sure:  children with Down syndrome don’t deserve to be locked up in dark rooms, kept in cribs 24/7, and discarded as trash.


I know, without a doubt, that Cooper and Conner would be further ahead developmentally if they would have been given a chance.  Unfortunately, in their former country, people with Down syndrome are not given the same opportunities as “typical” children.  In fact, most people with Down syndrome in Ukraine are tucked away, hidden from society, believed to be mistakes, unworthy of an education, incapable of learning, seen as a burden instead of a blessing.  This same viewpoint was held in America at one time, too.  Education is key.


I just wish we’d have gotten to our sons sooner.  Six years of living in a crib 24/7 without stimulation, without love, without family, well, I just cannot imagine.  But our boys are still full of love and hugs, even after years of abuse and neglect.  People say that extra 21st chromosome is where love and hugs are found.  I’m not sure that a typical child locked away for six years would transition to family life as well as Conner and Cooper have.


When Cooper and Conner first came home, many people asked if we were sure they both had Down syndrome.  Even the medical personnel questioned this.  When the boys spent 8 days at Dell Children’s Hospital in March (right after they came home), genetic tests were ordered.


The genetic testing confirmed that both Conner and Cooper have Down syndrome.  But, interestingly, they both have different types of Down syndrome.


The three genetic variations that can cause Down syndrome include:

  • Trisomy 21. More than 90 percent of the time, Down syndrome is caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
  • Mosaic Down syndrome. In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
  • Translocation Down syndrome. Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome. This form of Down syndrome is uncommon.


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Conner has Trisomy 21, which is the most common genetic variation of Down syndrome. Conner has three copies of Chromosome 21 (instead of the usual 2). 



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Cooper has Translocation Down Syndrome, which accounts for less than 4% of all cases of Down syndrome. Cooper has the traditional two copies of the 21st chromosome, but he also has additional material from the 21st chromosome that has attached (translocated) to another chromosome, resulting in Down syndrome.


No matter the genetic reasoning behind their Down syndrome, Cooper and Conner both deserve love and life.  It’s been quite miraculous to witness how much progress both boys have made over the past seven months.

  • Both boys are now eating soft foods (not just pureed foods).
  • Both boys are learning to feed themselves and will pick up soft finger foods and place the food into their mouths.  They will also hold a spoon and will attempt to feed themselves, as long as someone is close by to keep them from throwing the spoon! Smile
  • Both boys are mimicking sounds.  Conner has said Momma several times.
  • Both boys are much smarter than many people think.  They’re able to make associations and predictions.  They have definite likes and dislikes.  They are both mischievous and laugh whenever the other one does something wrong (like grab something and throw it across the room just because it’s within reach).
  • Cooper is S-T-U-B-B-O-R-N!!!  He can do far more than he leads people to believe.  Fortunately, I’m more stubborn than he is, so I will wait him out, which sometimes means an extra 1.5 hours until one of us gives in.  It’s usually Cooper who gives in, but not without a fight. Smile Cooper is great at fooling people into believing he can’t do something, when he really can, he just knows how to work his cuteness in his favor. Smile
  • Conner gives wet kisses often. And he hugs everyone he sees.
  • Cooper is learning to show affection through hugs instead of hitting (which is what was modeled for him for his first six years).
  • Both boys are growing exponentially and amaze us every single day with how much they’re learning and doing and progressing.  Each time the boys’ teachers and specialists write their goals, it seems that they meet the goals by the end of the week, and sometimes by the end of the day!
  • Conner is now walking independently and has finally chosen this as his preferred mode of transportation.
  • Cooper is now taking a few steps independently, and he will walk alongside someone for long distances as long as he has the security of holding someone’s hand.
  • Both boys are sweet blessings of the Lord.


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