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Down syndrome



What is Down syndrome?

Down syndrome, also known as Trisomy 21, is an extra copy of the 21st chromosome present at birth. This extra genetic material manifests itself in a number of ways, most notably in cognitive delays, recognizable physical characteristics, and a high social and emotional intelligence. Down syndrome is the most common chromosome abnormality in humans and exists across all races and classes. It is estimated that one out of every 700 babies is born with Down syndrome, but this number is expected to decrease due to the advent of noninvasive prenatal testing. Even though we received a prenatal diagnosis and continued our pregnancy to term, we are in the minority, as anywhere from 88-94% of prenatal Down syndrome diagnoses end in termination.

Down syndrome also comes with a higher prevalence of health problems, namely congenital heart disease, gastrointestinal issues like Hirschsprung's disease and duodenal atresia, hearing loss and thyroid disorders. These conditions, however, are easily treatable with either surgery or medication. Luckily for us, Quinn only shows signs of mild hearing loss that will be corrected with tubes once he is old enough.

What does Down syndrome look like?

Some common characteristics of individuals with Down syndrome are:

  • Epicanthal folds (extra crease in the eye)
  • Flattened nasal bridge
  • Misshapen and/or low-set ears
  • Short limbs
  • Sandal gap between the toes
  • Brushfield spots in the eye
  • Single palmar crease
  • Hypotonia (low muscle tone)
  • Clinodactyly (inward curve to the pinky finger)

*Note: not all of these characteristics are found in all people with Down syndrome because Ds is not a one-size-fits-all condition. Quinn, for example, has only 4 of these features (epicanthal folds, flattened nasal bridge, short limbs, and Brushfield spots).

Are there different types of Down syndrome?

Down syndrome occurs in one of three ways:

  • Nondisjunction: This accounts for 95% of Ds cases and occurs when chromosome pairs fail to separate properly during meiosis. The result is that, as the cells multiply and divide, each cell will then receive an extra copy of the 21st chromosome. We suspect Quinn has this type of Down syndrome.

  • Robertsonian translocation: this occurs when the long arm of chromosome 21 in a parent is attached to another chromosome, usually chromosome 14. During reproduction, these misplaced chromosomes have a significant chance of creating a gamete with an extra chromosome 21, producing a child with Down syndrome. Translocation Down syndrome is often referred to as familial Down syndrome because it has genetic tendencies. It is the cause of 2–3% of observed cases of Down syndrome.

  • Mosaic: this occurs when only some of the cells have an extra copy of the 21st chromosome. It accounts for only 2% of Down syndrome cases, though some suspect this rate may be higher because when only some cells are affected, it can go undiagnosed. Some individuals with Mosaic Ds are extremely advanced, while others have the same challenges that those with nondisjunction or transolocation Ds have. It depends on where that extra chromosome falls.


What can people with Down syndrome do?

The same things you can do. The old stereotypes are fading as more and more individuals with Ds are integrated into the community instead of institutionalized, like in past generations. Individuals with Ds can read, write, attend college, get married, and hold jobs. They can be athletes, artists, musicians, and professionals. While it may take them longer to reach certain milestones, with proper intervention and parental guidance and support, children with Down syndrome can and will reach the same goals that typically-developing children attain. So don’t discount my kid just yet.

What's it like to have a child with Down syndrome?

Since Quinn is only 5 months old, it's hard for me to answer this question. I can say that after our prenatal diagnosis, the rest of the pregnancy was stressful and closely monitored. We went in for weekly ultrasounds and it seemed that doctors always found something that worried them. Quinn was born early and relatively healthy, and all the potential problems that showed up on ultrasounds had resolved themselves upon his arrival. The first year, from what I've been told and experienced thus far, is a whirlwind of appointments and diagnostic tests. Because of the associated health problems listed above, doctors take a let's-rule-this-out stance, so we've been sent to a number of specialists to check his hearing, thyroid levels, swallow function, and other anomalies.

There are many other blogs written by parents like me who say things like, "Down syndrome is the best thing that ever happened to this family" or "I don't know what I did to deserve such an amazing experience." That's not my take. I'm not a sunshine and rainbows kind of person, and I'm not going to paint an overly rosy picture to make myself feel better. I'm a realist and Down syndrome can be tough. But so can a lot of things that typically-developing kids experience. I think parenting in general is tough, but Down syndrome is not the end of the world. Quinn is just like any baby: he smiles, he sleeps, he poops, and he plays. He's downright awesome, really.

Things to remember:

“Down syndrome” is not an adjective. Quinn is not a “Down syndrome baby” or a “Downs kid.” He is a child/baby/person with Down syndrome. It does not define him.

We HATE the word “retard” when used as an insult. The traffic you sat in this morning was not “retarded,” nor was your buddy’s decision to sell tickets to the show you were all planning to see. I’m not even a huge fan of the word in the medical community, as it now carries with it some pretty negative connotations. And if you’re a grown-ass adult using the word “retard” in everyday conversation, everyone thinks you’re a tactless jerk. Really and truly.