Yo soy La Lay

adventures in family, faith, and Down syndrome

Lesson #2: What Down Syndrome IS (and how to talk about)

on October 2, 2014

This is part of the 31 for 21 Blog Challenge.  And it’s probably a little boring unless you know nothing about Down syndrome.  🙂

Lesson #2 was supposed to be Lesson #1.  We all know how that worked out.  Moving on.

The first lesson that we learned about Down syndrome when Tessa was born is what, exactly, Down syndrome is.  We received no less than four copies of the book Babies with Down Syndrome within the first week of Tessa’s life.  When she joined our family, I could flash back to freshman biology and picture neat little lines of chromosomes in my textbook coupled with the sweet little face of a child with Down syndrome.  However, that’s where the knowledge mostly stopped.  The books were welcome treasure chests of information about our baby.  Not everything inside was gold; some of the contents scared us or overwhelmed us, but it was a glimpse into where we were headed.

There are three kinds of Down syndrome: Nondisjunction (Trisomy 21), translocation, and mosaicism.  Tessa’s type, nondisjunction, accounts for 95% of cases.  It occurs equally across all races, genders, and socio-economic levels.  While it has a higher occurrence rate in older moms, 80% of babies born with Down syndrome have moms that are under the age of 35.  For a cute biology lesson on how it occurs, check out this video:

Trisomies (three copies of a chromosome) happen on other chromosomes as well.  However, many other trisomies (but not all) end in miscarriage or are fatal soon after birth.  The theory with Down syndrome is that because the chromosome is so short (and contains less genes), people can be born with Ds and live.

This link will take you to some very detailed information about which genes are on chromosome 21.  It’s a lot of science mumbo-jumbo, but it sort of explains some of the common issues that we see with Down syndrome.  Some of the genes on chromosome 21 affect cells related to muscle tone, eye sight, hearing, the heart, and blood.  So, in Down syndrome, we see higher instances of low muscle tone, poor eyesight, hearing difficulty/loss, heart defects, and some types of leukemia.

Low muscle tone (hypotonia) has been the biggest challenge for Tessa to overcome at this point.  It doesn’t mean that she is weak (weight lifting doesn’t really help in this case 🙂 ), it means that at rest, her muscles are more lax that would be considered normal and it takes her more energy to make them move than it would you or I.  While it obviously affects her motor development, it’s easy to forget that there are other muscles that are affected.  Stomach muscles, eye muscles, muscles used to swallow… they are all affected.  The opposite of low muscle tone is manifested in conditions like cerebral palsy.

It’s important to remember that someone with Down syndrome has 46 normal chromosomes and one extra.  So while Tessa certainly looks like she has Down syndrome, she also looks a lot like I did as a baby.  It’s also important to know that there are not “shades” of Down syndrome; there are no severe or mild cases.  You either have it or you don’t.

While I, personally, am not easily offended by most things, it’s important to learn how to best talk about Down syndrome within the community.  In the United States, the condition is called “Down syndrome.”  You refer to someone as a person, and if you need to reference the Ds, it is proper to say “a person with Down syndrome.”  It’s not considered appropriate to use the phrase “Downs baby” or “Down syndrome girl.”  In the Down syndrome community, it’s important to use people-first language.  We don’t appreciate the comment that our children “suffer from Down syndrome” or the notion that they afflicted with it.  It can be hurtful to some people to say things like “she barely seems to have anything wrong with her” or “you can hardly tell.”  We’re mostly a positive group and truly appreciate if you focus on our kids simply as kids, not as a diagnosis.

For more information on Down syndrome and people-first language, check out the National Down Syndrome Society’s website.

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3 responses to “Lesson #2: What Down Syndrome IS (and how to talk about)

  1. Julie says:

    Learned so much I didn’t know before – thanks!

  2. I LOVE the video! And the link was amazing! I learned something 🙂

  3. […] talked about Tessa’s low muscle tone at little bit at the beginning of this month. Because of the low tone, gross motor skills (rolling, […]

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