Our Baby Story: Seeking Support

When people think of genetic disorders, Down Syndrome, Cystic Fibrosis and Sickle Cell are usually the first to come to mind because they are so common. However, another genetic disorder just as prevalent is not nearly as well known: Turner’s Syndrome. When our daughter’s pediatrician informed us that our beautiful 6-week-old had Turner’s Syndrome, my husband and I were among the many adults who had never heard of it.

My husband and I found out we were pregnant Christmas Eve of 2008—what a wonderful gift! Being pregnant was easy for me; I was never sick and rarely was I tired. At every check up, my blood pressure was great and my weight gain was on target. The baby and I seemed to be doing wonderfully until my 30-week sonogram. Right away I could tell by the look on the sonographer’s face that there was something wrong with the baby. She said she needed to go get my OB/GYN to take a second look before she could tell us anything. By this point I was on pins and needles wanting to know what was wrong with our baby. The OB/GYN came in, took a look and told my husband and I that there was a significant amount of fluid around the baby’s feet, causing them to swell. He had never seen anything like it before and he wanted us to go see a perinatologist for more testing.

My mind began to race—I had no clue what to think. I was a basket case throughout the rest of my pregnancy. The perinatologist couldn't give us much more information than our OB/GYN had. He confirmed the swollen feet and said we needed to wait until the baby was born to do genetic testing and go from there.

My mind ran wild. What began as a healthy, normal pregnancy had so quickly changed. My OB/GYN monitored me closely and sent me twice a week for NST (non stress tests) to make sure my high blood pressure wasn't affecting the baby. He put me on bed rest in hopes that I my pregnancy would make it full term. Thankfully, I made it to 39 weeks, and we agreed with the doctor that it was best to go ahead and induce labor.

The day arrived for my husband and me to welcome our first child. We were anxious to see whether a son or daughter was joining our family, but more importantly, we were anxious to find out whether our baby was healthy. When my husband and I first laid our eyes on our daughter, she was the most beautiful baby we had ever seen. As soon as I saw her, all the worries I had going into that day melted away. Our daughter did have the swollen feet the doctors had seen in the sonogram but other than that, she was perfect.

When she was 4 weeks, the pediatrician sent us for genetic testing so we could find the underlying cause of the swollen feet. A long two weeks passed waiting for the results. Finally, our pediatrician called us to come to her office to go over the results. I could see something was wrong by the look on her face when she walked into the room. She got right to the point and told us the genetic testing showed that our daughter had only one X chromosome, which meant she had Turner’s Syndrome. My mind raced with questions before she even began to explain what it was. However, her next words brought my mind to a complete stop: "With Turner’s Syndrome, there are fertility issues, and your daughter will most likely not be able to have children." She continued talking about the other issues associated with the disorder, but I didn't hear a word she said. My mind was too busy echoing the words, "Your daughter will not be able to have children. Your daughter will not be able to have children." I glanced over at my precious beautiful baby girl asleep in her daddy’s arms and I broke down crying. My sweet husband had to be the strong one and he listened intently to everything the doctor had to say. He was informed that Turner’s Syndrome causes short stature, heart and kidney defects, learning disabilities, low set ears, droopy eyes, low hair lines, extra skin around the neck, etc. We cried together in the parking lot as we looked at our beautiful daughter. How could she be so perfect and beautiful? How could we not know she had a genetic disorder all this time? I wondered what I did wrong within my pregnancy for this to happen.

A few weeks later, the pediatrician sent us to see a cardiologist and an endocrinologist. The cardiologist did an EKG and an ultrasound to check the condition of our daughter’s heart. By God’s graces, our daughter had a healthy heart. The ultrasound also revealed that her kidneys were normal and functioning properly. The endocrinologist charted our daughter’s height and weight. Although our daughter was still in the 50th percentile for height and weight, we learned we would need to put her on a growth hormone by at least the age of 2, because, without that assistance, the average height of a woman with Turner’s Syndrome is only 4' 8''. My husband and I decided to start the growth hormone when we saw a decline in her growth at 1 year of age. A nurse trained us to administer a growth hormone shot 6 days a week. We will continue to give her the growth hormone until she reaches her teenage years when we will have to give her estrogen.

Through our journey, we were introduced to the Turner Syndrome Society in Kansas City. Without this group, my husband and I would still feel as if we were experiencing everything alone. Knowing other families who have experienced what we are going through has been so helpful. I appreciate that I am able to find support and encouragement from other parents of Turner Syndrome daughters.

Turner syndrome (TS) is a non-inherited chromosomal disorder that that describes girls and women with common features and physical traits that are caused by complete or partial absence of the second sex chromosome and affects one in 2,000 female births. Primary characteristics are short stature, ovarian failure, heart defects, and normal intelligence with possible learning disorders

The Turner Syndrome Society of Kansas City (TSSKC) is committed to creating awareness, promoting research and providing support for all persons touched by TS. To find out more about local events and information visit our website at www.TSSKC.org or contact us directly at info@tsskc.org.

Heather Vaughan, lives in Prairie Village with her two fabulous daughters, three maddening dogs, and one terrific husband.