Turner Syndrome is a Gift that was Given to Us - by Kristen McKinney

Anna’s story begins at about 9 week’s gestation. It was around that time that I started to feel like something was different. Let me start by saying that when I’m pregnant, I know things. ALL the things. I knew I was pregnant with Anna and her older brother before I ever took a test. I knew the sex of both babies immediately. While I have zero intuition in my non-pregnant state, when I’m growing a baby, I feel like Nostradamus.

So, when I started to feel off, I knew to go with that feeling. I am a nurse by profession. For any of you that are nurses or have family members who are nurses, you know that we fear being alarmists while still actually internally freaking out over the knowledge bouncing around in our heads. I wanted to talk to my doctor, but I decided to wait until my 12-week visit. I told him my concerns and decided that I wanted to have the first trimester screening that I had previously turned down. He worked me in so I could get it done prior to 13 weeks.

I remember lying on the table while Whitney (who would go on to be our ultrasound tech for the rest of my pregnancy) happily started scanning me. I remember her smile fading. I remember her getting quiet and focused. I remember her turning to me and smiling gently and saying she would be right back; she was going to get her boss. I remember sobbing and saying “I knew it. I knew it.” over and over and over again. Chanting it like a mantra. Whitney’s boss came in and scanned some more. She turned to us and said that they had found something wrong with the baby and she was going to get the doctor.

The rest of the day was a whirlwind of words and appointments and people. Cystic hygroma, pleural effusions, chorionic villus sampling, high risk OB, genetic counseling . . . at 16 weeks I had the CVS. Two weeks later, the genetic counselor called me and asked if I cared if we talked about the sex of the baby. I said, “No, but it’s a girl, and she has Turner syndrome.” She paused and then said, “Yes, you’re right.”

The next six weeks were nearly unbearable. We were told that she had a less than 5 percent chance of being born alive due to all of the issues she had in utero. Swelling, hygroma, bilateral pleural effusions, two vessel cord, no electrical box in her brain, and the list goes on. We made the choice to not terminate the pregnancy.

I had to make all of my appointments at the end of the day because each one was so emotionally taxing that I was unable to go back to work afterward. I knew something had to give. I had a two-year-old at home that I had to take care of and being a constant emotional basket case was not what he needed.

At our 24-week appointment with the high risk OB, I asked him if he was telling us that he would possibly induce labor at 25 weeks to save her life. He said, “no, no, but maybe 26 weeks . . ” Something changed in me at that moment. I didn’t know I was going to say it until it was coming out of my mouth. I said, “No." I told him that if my body went into labor naturally at 26 weeks that it would be different, but I would not induce labor only to compound the issues we knew she would have with preemie issues. I felt like the safest place for her was inside of me and that’s where she would stay until I was comfortable with where she was developmentally, or my body said it was time. I knew that meant that we might lose her, and I knew we would mourn that loss like no other, but I also believe that everything happens for a reason. At that moment, I gave up every semblance of control that I thought I had and put my trust into a higher power.

We went back to our regular OB and treated her like a regular pregnancy. Anna was born via scheduled C-section at 39.5 weeks. The room was full of neonatology folks and OB folks and for all I know, random folks off the street. Her hygroma was so large that they were confident she would have to be intubated immediately. She was also going directly to the NICU since we were certain she would have a congenital heart defect.

She was face up at delivery and she started to cry. My wonderful doctor leaned over the curtain and said, “Not so concerned about that airway!” She was over 7 pounds and so stable that the nurse took her into the room where all our friends and family were waiting before taking her to the NICU. She came out to applause and an audience of admirers, and that environment follows her wherever she goes.

She had open heart surgery at 10 days old. We were told she may never speak or swallow on her own. Trust me, she does both EXCEPTIONALLY well. She will have a long road ahead of her with all the other challenges Turner syndrome brings, but she is here. And she is healthy. And she is JOY.

While it is certainly a part of her, Turner syndrome doesn’t define her. She is unique because of it, but also in spite of it. She commands attention with her smile and personality and frankly, her attitude. She is full of confidence and love. She owns every room she walks into. She is strong and smart and oh so brave. Turner syndrome was a gift that was given to us. Because without it, Anna would not be who she is, and we wouldn’t trade that for all the X chromosomes in the world.