A Turner Syndrome Warrior
In May of 2019, I found out I was pregnant with Audrey. We had a few normal-appearing ultrasounds at our fertility clinic before being referred to Maternal-Fetal Medicine (MFM). At our 12-week ultrasound appointment, a Single Umbilical Artery (SUA), hydrops, and other concerning markers suggesting Trisomy 18 were discovered. Our doctor explained that SUA can be associated with chromosomal anomalies.
We chose to do the Noninvasive Prenatal Testing (NIPT), which confirmed the baby was a girl and that she did not have Trisomy 13, 18, or 21. Wanting to know what we might be facing at delivery and to be as prepared as possible, I underwent an amniocentesis.
This test confirmed that Audrey had Turner Syndrome. Finally, we had an answer and a sign of hope. I was familiar with Turner Syndrome and felt confident she would be okay as long as she made it to birth. Statistically, babies with Turner Syndrome have less than a 1 to 3 percent chance of making it to live birth. In Audrey’s case, the odds were even lower because she had developed hydrops early on, with fluid accumulating in her abdomen and lungs. At 24 weeks, her abdomen was measuring five weeks ahead due to the fluid. Thankfully, by 33 weeks, the fluid in her abdomen had resolved, although it remained in her lungs.
Cardiologists also warned us that she would likely need heart surgery shortly after birth once she was stable.
On December 28, 2019, Audrey was born at 37 weeks, weighing 4 pounds 12 ounces. She stayed in the NICU for 10 days. After multiple heart ultrasounds, the cardiologists confirmed just before discharge that she had no heart defects.
She may be small, but she is fierce, with a stubborn streak that has served her well from the very beginning. She is joyful, determined, and full of personality, always keeping us on our toes. Whether she is belting out Whitney Houston in the car, mastering new moves at gymnastics, or yelling encouragement to her big brother from the soccer sidelines, Audrey brings her whole heart to everything she does. Early in the journey, I learned to treasure every single day I had with her. Now, every day with Audrey is a reminder that miracles happen, and she is truly thriving.
I hope that by sharing Audrey’s miracle story, it brings hope to another family.
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