The Unpredictableness of the Errant Chromosome

It's remarkable, the power of the chromosome, either in its whole, in part, or in absentia.  The power it holds over nearly every aspect of our bodies and minds.  The rules it dictates, the systems it runs, the ways in which it affects us and how we take it for granted as healthy, functioning humans. 

When the average chromosome changes, however, when portions break off, when an extra one appears, when one is missing, havoc ensues.  The body changes.  The rules that the typical 46 dictate get thrown right out the window, making new rules, changing the systems, creating new physicalities.  The typically-developing nature of the human body is thrown into dissaray, and scientists and doctors and parents alike have learned how those changes can affect us.

I don't just refer to Down syndrome, or the 3rd copy of the 21st chromosome, although that's where the bulk of my knowledge lies. 

Visible physical differences, evidenced through an epicanthal fold, a palmar crease, Bruschfield spots (my favorite!), are the most obvious.  Intellectual differences, such as decreased IQ, difficulties processing speech, sensory processing disorders, become more apparent with time.  Internal differences in the physical make-up of the body are the most challenging and frightening.  That list can be endless, and can cause some of the most unpredictable issues to arise, including, on the simpler end of the spectrum, constipation, reflux and gluten allergies, to the more complicated end of the spectrum with heart conditions, leukemia, intestinal blockages, pulmonary disorders, seizures, and so, so, so much more.

Some children are medically fragile.  Their parents spend each and every day willing their children to live.  Trying to give them as much of a normal life as possible.  Trying to keep them healthy and free from germs and other triggers that can put them in the hospital at the drop of a hat.  On Facebook I see, every day, children struggling to live.  Parents struggling to keep it all together while they watch their children work hard to breathe, eat, thrive.  Occasionally they don't make it, and it absolutely breaks. my. heart.  I, along with countless others, sit back and watch, helpless, as their stories unfold, another one just last week.  The scenarios play out in different ways:  a child ends up in the hospital for an infection that a typically healthy child would have fought easily, but they never come home.  Another child mystifies doctors as they race against the clock to determine what is slowing/speeding/stopping their heart, and the clock wins.  And yet another suffers a random seizure that cuts their life short. 

That chromosome, wherever it sees fit to be placed in the random selection that occurs at conception, is to blame. 

And, while I spent the bulk of my 10th grade biology class crying in the bathroom as my lab partner dissected frogs, fish and grasshoppers, learning only the basics of the genetic predisposition for blue or brown eyes, I have learned the importance of what had been taught.  I have learned more about how everything works together to create the whole being, perfect, imperfect, however you look at it.  And I certainly don't take those chromosomes for granted anymore.