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.
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:
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!
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