Sunday, 16 June 2013

The low down on DS

I've been doing a lot of reading lately and what I've learned so far about Down syndrome is this... Named after John Langdon Down. He neither had DS nor owned the name therefore in Canada we call it Down, not Down's syndrome. It occurs in approximately 1 in 800 births, most of which are diagnosed after delivery.

Each newborn born with Down syndrome has their own unique genetic make-up; information inherited from both parents. We are all born with 46 chromosomes, or 23 pairs from each parent cell. What causes Down syndrome is improper cell division, which can happen during any pregnancy. Somewhere between fertilization and implantation, the cell division is affected by one chromosome (from either parent) not dividing properly. This nondisjunction causes the cell to double up on its information leading to Trisomy 21. Three instead of the typical 2, of the 21st chromosome, resulting in 47 chromosomes.

There are three types of Down syndrome. Nondusjunction, where the majority of cells have Trisomy 21, which comprises 95% of cases. Translocation is when part of chromosome 21 breaks apart and attaches to another chromosome. This is possibly an inherited trait, and affects approximately 4%. The last is Mosaicism which is rare affecting only 1%. This occurs when the impairment of cell division happens later on only affecting some the cells in the body.

Every child with DS is different. Because of the inherited DNA from both parents. children end up resembling other family members and may possess similar traits or characteristics. Its the same genetic information, just more of it. There are similar features that most children with DS possess, but they are individuals with their own unique personalities and dispositions and are actually more like "typical" children than not.  

Our little guy will more than likely have blond hair and blue eyes, like our other children.  I wonder if he will be laid back like his brother, Ky or possess a wild zest for life like Magnus?  Will he be witty like his sister Braedyn or be a performer like Jaye? Will he have his dad's charm or be sensitive like me?  Whatever his personality, he will be like no one else but himself. And his extra chromosome will just be a small part of him and who he will be...making him extraordinary!  I am looking forward to meeting and learning all about my baby, my child, my son who just happens to have Down syndrome.

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