31 For 21: What Is Down Syndrome?


What Is Down Syndrome?

Down syndrome (or Trisomy 21) means that there is an extra copy of of the 21st chromosome. Trisomy means ‘three’. Down syndrome has its own set of characteristics that individuals may (or may not have) such as low muscle tone, a single line across the palm, Brushfield spots (which are white spots in the iris) and a crooked pinky.

Lauren has low muscle tone and crooked pinkies. She also has an enlarged tongue, a space between her first two toes on each foot (her ‘monkey’ feet) and she is cognitively delayed.

How common is down syndrome?

It’s estimated that in the US, 1 in 700 babies are born with Down syndrome. It’s the most common genetic condition (no, it’s not a disease. And you can’t catch it by being around someone who has Down syndrome.) Nearly 500,000 people in the US right now have Down syndrome.

What causes Down syndrome?

Honestly, no one really knows. Something happens at conception and Down syndrome occurs. It’s nothing the parents did. When we found out Lauren had Down syndrome, we were blamed for living in a house with mold, I was yelled at for drinking a little Mountain Dew during pregnancy and several other things. But I know now it wasn’t something I did or didn’t do.

how likely is down syndrome?

I was 20 when I go pregnant with Lauren. I didn’t have any testing with Lauren, not even an amnio, because my doctor said I was too young to have something wrong with my baby. I went with it, because I was terrified of that huge needle, and he mentioned that there was a risk of miscarriage. According to statistics, I had a 1 in 2,000 chance of having a baby with Down syndrome.

Now that I’m 30, my chances are 1 in 900. By the time I’m 40, it’s about 1 in 100. Down syndrome occurs in all races and economic levels.

Sometimes Down syndrome is genetic, but that’s usually only one type of Down syndrome: translocation.

How long with people with down syndrome live?

As of today, as long as they want! Back in 1910, it was about 9 years old. I found a study from 1986 (the year I was born) that said “The life expectancy for Down’s syndrome victims is 50 years.” I cringed when I read that.

If you look up “oldest living person with Down syndrome” you will see articles about individuals into their 80s. That’s amazing! A few of them have even made it into the Guinness Book of World Records.

That’s a lot of info! Come back tomorrow to learn why it’s Down syndrome, not Down’s syndrome.

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