My name is Kelsey. I’m the mother to a bubbly 15 month old daughter named Elliott Grace. You can call her ‘Ellie.’ From the outside looking in, we seem pretty normal – if that’s a thing. We function well together. We giggle and learn and grow. We also go to a lot of doctor’s offices. You see, or more appropriately don’t see, Ellie goes beyond the definition of ‘special’ that most parents use to describe their kids. My kid, she’s genetically special. She was diagnosed at 10 months old with mosaic Turner syndrome.
Turner who? What?
From turnersyndrome.org – “Turner Syndrome (TS) is a condition that affects only girls and women. It is identified by a difference in the genetic make-up of those who are affected. Most girls and women have two complete X chromosomes (the sex chromosomes for females). Turner Syndrome is caused by the absence of all or part of the second X chromosome in some or all of the cells of the body.”
If you’re totally confused by that, don’t worry. I was and still am at times. Basically, Ellie’s missing an X though her case is not textbook. You’ve probably googled it or plan to after reading this post, which is to be expected, and might be wondering why she doesn’t seem to fit the physical description. Ellie has what is called mosaic Turner syndrome. Specifically, her cells are split 50/50 with XY and XO chromosomes. I know, even more confusing. From what I understand, this additional word means that anything associated with Turner syndrome may or may not happen with Ellie. She doesn’t appear to have anything particularly going on other than typical baby things. It’s not until we looked further after the discovery of her heart condition that we knew there was more to her than meets the eye. Her Turner syndrome is completely unique to her, which brings me back to that word I used earlier. Special. Ellie’s genetics are special and with this special set comes a special way of life.
If you’re familiar with us, you might know bits and pieces of our journey. It’s been on my heart to put it down in words for awhile now. Maybe this is something Ellie will be able to read someday, or maybe this blog will be found by a wide-eyed mother googling her way through her daughter’s recent diagnosis in search of answers that might not exist yet. So here we are. Whoever you might be reading this blog, I welcome you into our world.
A world of mosaic grace.