Monday, June 23, 2014

Do what you can, with what you have, where you are.

Yesterday, Louis and I went to the genetic counselor and learned more about the results of the testing that was done after my miscarriage. Baby girl had Turners Syndrome, which is a genetic but not hereditary chromosomal abnormality where there is only one X chromosome present. 

I don't know what you remember from high school biology, so I'll give you a refresher.  Every cell in our bodies has 46 chromosomes matched in 23 pairs in the nucleus. The 23rd pair is the sex chromosomes, and you either have two Xs or an X and a Y. Sometimes, when the eggs and sperm are formed through meiosis (ooh remember that?) the chromosomes don't split correctly. Sometimes one gamete (sperm or egg) gets extra chromosomes (called a trisomy) and sometimes they don't get enough (as in the case of Turners).

The counselor told us this is for sure a fluke thing, rarely happens a second time, and reiterated that there was nothing either one of us did wrong or could have changed. Turners results in a miscarriage 95% of the time, usually by the 12th week. The other 5% of the time the baby girl is born full term, though she likely will be very petite (less than 5'), and will not have properly developed ovaries and will not go through puberty without hormone therapy. They are able to carry children, though they must use IVF and donor eggs to become pregnant. There is also sometimes a learning disability present, and often heart defects. They are unsure why 1 in 20 survive, though they theorize that in the 19 in 20 who don't, the heart defect is more severe and causes a fluid buildup in the fetus. 

I am thankful that we live in a day and age where this type of information is available. I am thankful to have many answers to our questions and have some reassurance as we move forward. I am sad that my instincts that it was a girl were correct, simply because my heart wanted a girl and then we lost her (not that losing a boy is better, duh!), though my sister pointed out that now we know we can make little girls! Hopefully the pink boots I bought will get worn :) I am thankful to know that what happened is very common, and unrelated to diabetes or clomid, and was nothing more than bad luck. I am still anxious to see God's plan come to fruition. 

I often wish that I could speed up time to already be pregnant again, or get through the first trimester, or whatever, but I am trying to remind myself instead to be present in my life as it is right now. To love every moment with the cutest boy I've ever had, to take pride in our house, in the meals I make, in how I dress, to engage fully in every conversation I have with a friend. It sounds silly, but while in Chicago we went to the planetarium and saw a presentation that kind of put human life in a universal perspective. Y'all, the earth is 4.5 billion years old, and has another 4 or so to go. The universe is nearly 14 billion years old. We only get 80 or so of those years to enjoy, and even though we know we have something great to come, this life is pretty great too, and we shouldn't waste it. What are you going to do to enjoy today? Who do you need to tell that they're special to you? What can you change to make your life the best it can be right now?

No comments:

Post a Comment