What is Down Syndrome? (Day 1)

The States have a whole month devoted to Down syndrome Awareness and I know a lot of Canadians celebrate that month too for DS. There can’t be too much celebrating and awareness for our angels! But in Canada October is Autism Awareness month, another different ability that affects many of our kids with DS and something that is dear to my heart since I work with a little girl on the spectrum. In Canada, the Canadian Down Syndrome Society has set aside November 1-7 as DS Awareness week. Since, I’m Canadian and didn’t want to take anything away from Autism Awareness month I am celebrating DS now in November. I’ve decided to do a blog post each day (or at least try!) to tell you a little more about our lives and create some more awareness! I think I even convinced Jon to write a post on his journey and life as Sofie’s Dad. I talk to so many mom’s and read so many Mommy bloggers but don’t always get a Dad’s perspective. Stay tuned…

My first post is going to just touch on what Down syndrome actually is or isn’t. I’m not actually sure I’ve posted on this before! It is such a norm in my world that I rarely think of the label any more. I forget that others might not understand fully.

The only consistent thing people with Down Syndrome all share is the presence of extra genetic material around the 21st chromosome. Even around that 21st chromosome there can be three different patterns it can fall in to. 95% of people with DS have the Trisomy 21 pattern where there is an extra chromosome in every cell. About 3% have the Translocation pattern where part of the 21st chromosome breaks off and attaches to another chromosome. About 2% have the Mosaic pattern where there is impaired cell division so some cells have 46 chromosomes and others have 47.

Most babies with DS are born to mother’s under 35 and is usually completely random with no family history of DS. I’ve also heard that DS is the most common chromosomal difference affecting about 1 in 800 births. Not sure if that is true but I thought that was interesting!

Giving you a list of characteristics common in people with DS is no different than giving you a list of characteristics of people in general. They have two eyes, ears, arms and legs. They have a heart, a brain, a smile, a laugh, and a cry. They can be happy, sad, frustrated, selfish, loving, mean, and every other emotion that people have. Just like any other person. People with DS are more alike to 46 chromosome people than not.

Other characteristics vary greatly. Yes, there are things that are associated with having DS or show up more often in people with DS than in ‘typical’ people, like low muscle tone, almond shaped eyes, and a smaller body frame. There are also health concerns that seem to be more frequent in people with DS, like heart complications, hyperthyroidism, Celiac, hearing or vision concerns, and cognitive or developmental delays (which aren’t really health concerns but I don’t know what category to mention that in). A person with DS may have many or none of these characteristics or health issues. Like I mentioned before, the only thing they all share is the extra genetic material on the the 21st chromosome.

There is nothing wrong with people with DS. They are not medically fragile, diseased or contagious. DS is something that causes delays but that’s all, JUST delays. It doesn’t mean that the person with DS will not be able to accomplish something. It just means it might take them a little longer to accomplish them. They can do ANYTHING any other person can do or dream of. They can and have scaled mountains, been business owners, traveled, sky dived, owned a home, married, parented, worked, gone to college, got their drivers license, and anything else you or they can think of.

People in general are pretty amazing. People with DS are just as amazing. They are individuals with their own strengths and weaknesses, hopes and dreams, desires and struggles. They have more abilities than disabilities. Look at the ABILITY.

3 thoughts on “What is Down Syndrome? (Day 1)

  1. Tara says:

    Thank you for writing this Katie. I don't always understand what different names mean and what it practically looks like and how to view people properly and with respect…so this was such a helpful explanation.


  2. Katie says:

    The risk factors increase for women over 35 (along with a whole bunch of other risks) but way more children with DS are born to women under 35. From my personal friends even only one out of over ten mom's I know were over 35 when they gave birth.


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