The fifth in a six-part series chronicling the birth of Michelle and Dennis Teravainen’s second child, August, who was born with Down’s syndrome.
By no means do I intend for this series to become a soap box solely for Down’s syndrome awareness, but a few of the same questions have popped up from loved ones about Down’s (DS), so I wanted to answer them as best I can. A medical professional would likely cringe at my hearsay explanation, but I think I have a handle on it.
What is Down’s syndrome, how does it happen, and why?
Down’s syndrome is a chromosomal disorder. Of the twenty-three pairs of chromosomes that each of us has, people with DS have an extra one, usually at the twenty-first chromosomal pair. Thus, it is more commonly known among the medical pros as “trisomy-21.” (All of the doctors and nurses in the hospital used this term, which confused us at first. By the hundredth time, we’d figured it out.)
Generally, the chromosomal abnormality occurs at the time of conception. Either the egg or the sperm carries the extra chromosome, so from the time of fertilization until the fetus develops, the extra chromosome becomes replicated in every cell formed during the subsequent instances of cell division—or meiosis for you high school biology nerds.
I haven’t found any research that proves exactly why this happens. However, evidence suggests that it has nothing to do with anything that mom or dad did during the pregnancy.
In other words, neither Shell nor I did anything wrong when we smoked crack and took bong hits during that first trimester. (Kidding.)
A baby with Down’s is uncommon; it happens roughly about once in eight-hundred live births. But when you consider the age of the mother, the risk becomes much more significant. For example, 35-year-olds have something like a 1-in-380 chance of having a child with DS, and 45-year-olds have a 1-in-20 chance.
How will Down’s syndrome affect Gus?
Every kid with Down’s has a different combination of symptoms and/or complications that distinguish his or her health from that of a typical child. Generally, kids with DS have a higher risk of genetic heart defects (though surprisingly, not the kind that Gus has), gastrointestinal complications, thyroid instability, hearing problems, vision problems, musculoskeletal problems, mental deficiencies, speech difficulties, shorter life expectancy, obesity, and the list goes on.
So far, we know of Gus’ coarctation and hypothyroidism. He has low muscle tone, to the extent that his head and neck are even more floppy than a typical infant. We won’t know about his vision until he’s older. Other complications could also manifest as Gus ages.
But most importantly, G-man is a warrior. He survived pregnancy. He survived the delivery. He survived the hospital. He has made it home. He also passed his newborn hearing test (which was so weirdly important to me because I love music so much, and I need to teach him all about the bands I love), though I was reminded that this, too, can change at any point in Gus’ development. We are choosing to dwell on the positive instead.
How “high” or “low” functioning will Gus be?
This is a valid question and one that Shell and I had immediately—though I must admit I hate the sound of it, because it almost suggests that we are doubting Gus before he even has a chance to show us what he’s got.
In any event, we have no idea. There’s no way to tell. A wide spectrum exists for the potential cognitive and motor function of any kid with Down’s syndrome. The phrase we keep hearing from doctors and parents alike is “early intervention.”
Basically, we need to team up with speech therapists, occupational therapists, and many other professionals as soon as possible, to get our future Special Olympian bocce competitor and/or disc golfer (bocce is already a Special Olympics event, but I’m working on the disc golf) in training for growing up.
Do we face any higher risk of having another child with Down’s syndrome if we have any more kids?
I understand that there are three varieties of Down’s syndrome. The most common type is as I described above, when the chromosomal abnormality occurs at conception. The other two are called mosaicism (not applicable to Gus, apparently) and translocation. Translocation—if I understand it correctly—occurs when one or both of the parents carry a particular gene that results in a higher rate of conceiving children with DS.
According to the genetics testing that occurred when we were at Children’s Hospital, neither Shell nor I are gene carriers. Therefore, the risk of having another baby with DS is only about one percent higher than expecting mothers of the same age.
The wife and I are nowhere near any decision on that front yet, but we know that is a question that’s been floating out there.
So that’s just the tip of the iceberg. We have a lot to read and learn. If you want to ask and/or educate Shell and I about anything, fire away. Maybe it’ll be a question we haven’t even thought of, and we can pitch it to G-man’s doctors.