Friday, March 22, 2013

How special? More than you might think.

Well there is no doubt that our little Buggy is special.  He is my son after all.  Not to mention that he has the worlds' best mama and big sister in his corner already.  Plus, he'll no doubt have my sense of humor and the Kern great looks.  But just when you think you know exactly how special Buggy is, well he surprises you.
I told you in my last post that our son has down syndrome.  Downs is a chromosomal abnormality referred to as Trisomy 21.  Each human receives 23 chromosomes from their mother and 23 from their father, making 23 total pairs, or 46 chromosomes. The 23rd pair is the infamous sex chromosome (XY -  boys; XX - girls).  The 21st pair is the down syndrome culprit.  What is special about this abnormality is not that the 21st pair is damaged in some way, or imprinted with some sickly design (like the mizzou tiger) but that there is actually an extra copy of 21.  So, instead of a pair, there is a try-fecta.  Hence the proper name, Trisomy 21.  This copy is typically made during the cell division that leads to sperm and /or egg development.  There are different percentages given but the one I give Dev Psych students is that there is a 1 in 700 chance that a child will be special enough to have that extra 21.  That is about 1/10 of a percent.  Since Lisa is 35 now, that number actually skyrockets to 1 in 400 (1/4 of a percent) So, we've got the numbers. thats pretty special.  But just when you think you know exactly how special Buggy is, well he surprises you.
As part of our journey the past several weeks, we decided to get an amniocentesis done to confirm the down syndrome. *I know some of you may have strong feelings about having the amnio done, but we can debate that in a later post.* Anyhow, the amnio was done and the results did indeed confirm downs, but it confirmed a special form of down syndrome called translocation. Translocation down syndrome is the rarest form of DS and occurs in less than 5% of all down syndrome children.  Translocation does not see a third copy of 21. Instead, each cell has the usual 2 copies of 21, but also, parts of 21 that have translocated onto another chromosome.  What makes this even more special is that translocation is the only form of down syndrome that may be genetically inherited.  May be genetically inherited? Either it is or isn't right? Well its possible.  Its possible that one of the parents is a "carrier" of TransDS, but probable?  Well, again, numbers are not exact, but somewhere in the range of 4% of DS children have the rare translocation form, and only 1/2 of those children genetically inherited it from their parents.  I'm telling you this kid is special. But just when you think you know exactly how special Buggy is, well he surprises you.
I have no idea what our little man is going to surprise us with next, but if he holds true to form, it is going to be a humdinger!  My boy already has one of my finest traits...he doesn't do anything half-way.  If he's going to do it, he's going to do it right.  My son is special, partly because of his crazy amount of chromosome 21 particles, but mainly just because! How special? More than any of us know right now, but hey, isn't that every daddy's desire?


  1. I am loving getting to know Buggy!! Keep the posts coming!!

  2. You did it Elnee! Great job. I'll be posting often.

  3. With your current knowledge base I am sure you knew a lot about DS already and how the chromosomes work. However as he grows it is amazing what else you will learn medically and developmentally. I have learned so much in my research these past two years with TJ I have been asked by medical professionals if I myself were in the field....I answer no I just refuse to not advocate for my son to the absolute best of my ability! I now plan to add an additional degree to my belt when I get to go back to school.