November 6th, 2010 I took two pregnancy tests and both came back positive. We were so excited that we would be having another child and that our children would be so close in age. I was engrossed in my bliss and ignorant to the realities that can accompany any pregnancy. I was "innocent!" All of that was about to change.
December 13th, 2010 was my first OB appointment. The day I was given a due date and the day we found out things weren't so "happy go lucky" with this pregnancy. My Step Mother went with me to the appointment and we were all smiles. We got to see the baby on the ultrasound screen and hear the sweet sweet sound of a heart beat. I didn't know then how treasured that sound truly would be. After the Doctor looked everything over he zoomed in and asked us if we saw what he was pointing at. We both said yes, not knowing what he was getting at. He told us that he thought it was a cystic hygroma (CH), that it was extremely early in the pregnancy to be seeing one, and chances were that it was a sign of a genetic disorder, most likely Down Syndrome. He wanted us to go see someone in Maternal Fetal Medicine and referred us to a different hospital. I left confused, upset, and above all, hopeful!
December 15th, 2010 at 9 weeks and 3 days we were seen by Maternal Fetal Medicine. They did a length ultrasound and when we finally spoke to a Doctor he had nothing positive to say. He said that the CH had grown in the few days since our last ultrasound and it now measured 4 mm. They said based on the babies early gestational age and the size of the CH they didn't think the baby would make it. They said if a genetic condition were to exist in conjunction with the CH that it was "100% chance of mortality" for the baby. They recommended termination even before any testing was done. My husband and I left with heavy hearts knowing we would not be returning there. I immediately began the search for a new high risk Doctor that had a more positive outlook. How could anyone possibly write our baby off when it's life had yet to begin?
December 23rd, 2010 I was 10 weeks and 4 days and I had found a new high risk Doctor. We went to our appointment hoping for a more positive answer to what they were seeing and hopefully we would get some answers. We had a CVS done and the Genetics Counselor and Doctors were much more positive about the entire situation, though they let us know that things might not work out the way we want. The CH now measured 4.9 mm and had a heart rate of 176 bpm. We were told that any CH measuring over 3.4 mm meant that the baby was at increased risk for genetic or heart issues. They told us the Genetics Counselor would be in contact with us shortly with our results.
December 27th, 2010 was the day we heard back from the Genetics Counselor. I was 11 weeks and 1 day. It was a day of relief and disappointment. Relief came in the form of a diagnosis, disappointment came in knowing there was a strong chance (95% +) that our baby would not make it through the pregnancy. Though we did not want to know the sex of our baby, the diagnosis gave that away. Our beautiful little girl had Turner's Syndrome. Turner's Syndrome is only found in females because it is the absence of the second X chromosome. Our daughter had the karyotype 45X compared to the "normal" female karyotype 46XX. We knew from talking with the Genetics Counselor prior to our diagnosis that Turner's Syndrome most likely meant our little one would not make it through the pregnancy, but if she did, she would be able to live a happy, normal life. The only two characteristics they could tell us our daughter would definitely have would be that she would have a short stature (~4'8") and that she would be infertile. All we could think about was that we were getting the little girl we were hoping for and that our son would have a little sister.
January 6th, 2011 at 12 weeks and 5 days we returned to the hospital to talk with our Doctors about our diagnosis and to have the baby's heart rate checked. The Doctors were supportive of our decision to carry our daughter as long as she would have us.
So my first trimester was a bit tumultuous. I went from being elated at being pregnant, to devastated that something was wrong, to happy we were having a little girl. We were determined to beat the odds and see our sweet baby girl. Our new Doctors were willing to help us make that happen (within their power). I was a an emotional mess, but I wasn't willing to give up. If my daughter was willing to fight, so was I!
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