The Low Down On The Syndrome

5 years ago Down Syndrome was but a speck of minuscule knowledge in my brain; a barely remembered paragraph in a high school health textbook. So, the first task on the docket for mission “Become A Parent of Down Syndrome Child” was to become educated.  Over the years I’ve been asked all sorts of questions about DS which tells me that I am probably not the only one who is a little bit clueless about it, so I thought I’d take a moment to share a few of the more common questions and their answers:

What is Down Syndrome?:  The term ‘Down Syndrome’ is the name given to a particular set of physical and mental attributes that occur as a result of a 3^rd copy of the 21^st chromosome in their DNA (named after John Langdon Down, the British physician who described the syndrome in 1866). Remember in Jr. High life sciences you learned that when egg and sperm come together they each share a copy of 23 individual chromosomes that meet up with their counterparts and become a pair?  Well, every once in a while an extra copy of chromosome #21 joins the party and this is called ‘trisomy 21’—a.k.a., Down Syndrome. (P.S. Just for the sake of grammatical correctness, notice that it is actually “Down Syndrome” not “Down’s Syndrome”.  Don’t worry, I didn’t know that either!)

Normal DNA                                                                Down Syndrome DNA

What causes Down Syndrome?:  Despite best research efforts the medical community still has no idea why this happens sometimes.  They have a lot of theories based on group sampling, but nothing that proves that any one thing causes it.  They do see that the older a woman is the more likely she is to have a child with DS…but clearly that isn’t the only factor since I was only 26 when I got pregnant.  My theory (based on zero science) is that it is not a scientific “mishap” that this extra piece of DNA just randomly shows up—I fully believe that God created these sweet, loving, caring, special people to help teach the rest of us how He designed us to view the world.  Take it or leave it, that’s my stance on it.  ;-)

Is there a “cure” for Down Syndrome?:  No.  It is not a disease, therefore there is no “cure”.  That extra little piece of DNA is simply another turn on the road map of their genetic make up, like the gene that dictates what color your eyes will be or how tall you will become.  There's no "cure" for brown eyes, they are just a part of who you are.  People with Down Syndrome are just people with a slightly different road map than you and me.

What are all of the differences that people with Down Syndrome have?:  That is a tricky question to answer because the spectrum of characteristics is broad.  I’ll do my best to lay out the most common characteristics that set this fraction of the population apart from the rest, but bear in mind that not a single person with DS is just like another and not one could possibly be pigeon-holed.

·         Developmental Delays – This is the most common and overarching difference that the extra chromosome makes.  Individuals with Down Syndrome simply develop cognitively and often physically slower than others.  Yes, the term “retarded” does actually apply—and not in the offensive tone that has permeated that word—but in the literal definition of the word which is, to be slow or slower.  As a music nerd I like to think of it as ritard, which is a musical term for slowing down at a given point in the song.  The reason that I like thinking this little word difference is because ritards usually happen at a point where the music gets extremely beautiful, emotional, moving and memorable; it helps you to really experience the depth of the music just like Rachel daily helps me to experience the depth of life!

·         Physical Differences – Undeniably there is a Down Syndrome “look” generally characterized by almond or oval shaped eyes, small facial features and ears, long torsos, shorter legs.  Frequently the lines on their palms are different, with just one large crease across the hand rather than numerous small creases.  Often the space between their big toes and their second toes is greater than that of others.  On the inside the range of differences include common heart defects, low muscle tone (including intestines), loose joints and lower immune systems.  They commonly have hearing and vision problems as well as speech delays that can stem from either cognitive delay or oral-motor skill delay, or both.

·         Alzheimer’s – One interesting fact about Down Syndrome is that, in conducted research, 100% of DS individuals that live into their 40s and 50s (which nowadays is most) develop early-onset Alzheimer’s.  They do not know what the link is, but the bulk of current DS research centers on this fact and trying to figure out why.  The hope is that if they can figure out why, perhaps the results will benefit both Down Syndrome and Alzheimer’s research and maybe uncover a cure for the latter in both communities.

Rachel and her little sister Kaia getting ready to be flower girls at their Uncle Richard & Auntie Amy's wedding

If there is only one thing that you remember after reading this blog entry, let it be this:  The above is a description of the syndrome not the people. To boil Rachel down to a description of physical and mental differences is to take the human out of her and leave just science.  People with Down Syndrome are the same as you and me—with feelings, personalities, likes, dislikes, hobbies, favorites, pet peeves, jobs, families, friends, hang ups, talents and more. I encourage you to broaden the boundaries in your head that rope off what is "normal" and what is not...this has been a huge part of my journey.  Before Rachel I admittedly had a pretty solid box that contained everything that I deemed "normal" and--to be completely honest--I pretty much ignored anything that fell outside that box because they weren't a part of my reality.  Now I am daily challenged to look at those around me and embrace the fact that we are all in one big box; we are all created with our own uniqueness, not one like the other.  I challenge you today to seek out someone that you tend to place on the fringe and connect with them--take a moment to embrace what makes you the same and what makes you different, and enjoy the sense of unity that comes in recognizing that we are all fearfully and wonderfully made.