Wednesday, February 1, 2017

Answers - LOVE edition

So as I shared back in November, we finally know what's responsible for making Cicily's body the way it is.  The gene POLR1C (or PolarIce as I think of it).  Cicily inherited a recessive version of POLR1C from both Chris and I.  The details of how Cicily ended up with POLR1C are a romantic story actually.  (Brief DNA 101: DNA codes for genes in our bodies.  All living things have DNA changes or "mutations" that usually go unnoticed.)  So Chris has a complete deletion of a line of code in his DNA that makes it so he passes on POLR1C as a recessive gene that has the potential to create Cicily's body.  Janalyn has a change in her DNA that turned a C in to a G which makes it so she passes on POLR1C as a recessive gene that has the potential to create Cicily's body.  Having DNA changes is common, but having DNA changes that code for the exact SAME gene is ridiculously uncommon.  As a geneticist put it before we had our youngest Sophie, it would be mathematically impossible that Cicily's condition is genetic and would happen again.  It's virtually mathematically impossible that two people would find each other and unknowingly have the potential to pass on the same recessive gene that can create Cicily's body!  See, romantic in a weird way isn't it?!  Chris and I now consider ourselves DNA crossed lovers.  We were discussing our awesome/awful situation one night and Chris commented that we needed a DNA BFF necklace where each of us has a half piece of DNA that matches up just right.  So I searched for something like that and found this necklace - C and J charms representing us and a strand of DNA representing our girls, one who inherited the recessive genes, and two who inherited the dominant gene.   
So if you see me around proudly wearing this necklace, you'll know it's a really good, brave day for me. And on that day I feel like I have 3 miracle girls.  The first is a miracle because she was born with a perfect body.  And as I realized in biology class, anyone who is born with a perfect body is a complete miracle given everything that can happen.  The second is a miracle because she inherited recessive genes that enabled her to have her perfectly broken body.  As Chris and I believe, Cicily could only impact people in the way she does with the body she has.  And only our DNA could have created that body.  The last is a miracle, because she was born!  And she may not have been conceived had we known about this science at work in our family.  
Our answers have made us aware of the miracles in our lives.  It may be an unusual love story, but it's ours.

1 comment:

Islay, Braxton and Charly Goldsmith said...

Oh I love this so much! It's real, it's simple so we uneducated can understand and even tho' it's raw and real it oozes with positivity and realistic big picture optimism. <3 it!