BUCKLEY AIR FORCE BASE, Colo. -- Editor's Note: This story was written by a Buckley Air Force Base military spouse in an effort to raise awareness for Turner Syndrome.
"Mrs. Bellamy, Kaylei has Turner Syndrome."
This call came after a long week of waiting for results of a test I was sure was unnecessary. I had convinced myself for years that Kaylei's short stature was because her grandmother is only 5 feet 2 inches tall. Kaylei's five-year, well-baby appointment would prove that wasn't the reason at all.
The visit started with a pause from the pediatrician as she looked at Kaylei's dad, Kaylei's brother and then me. We are all above average height. Kaylei was measured at just over 36 inches tall. This was the average height for a 3 year old and meant that Kaylei was shorter than 95 percent of girls her age. How could I not notice that she wasn't getting any taller? I'm her mother; all I could see was a beautiful little girl.
The pediatrician gave Kaylei a thorough check up that included a few things that her other pediatricians had not done during past visits. She checked Kaylei's hairline on the back of her neck, looked closely at her elbows and checked her toenails. She also questioned and noted the numerous moles Kaylei had. At the end of the visit, she assured my husband and me that Kaylei is a healthy little girl. However, she wanted to test Kaylei for a chromosomal disorder called Turner Syndrome.
My heart sank. Even though I had never heard of Turner Syndrome, my heart sank. Briefly, I allowed myself to feel sorry for her in thinking that she may not be perfect. I would later discover, and continue to discover, that she is more perfect than I could have ever imagined.
What would Turner Syndrome mean for her? Will she get sick? Does this affect her life expectancy? What? After we left the doctor's office, we went home and did what any loving parent would do - researched Turner Syndrome!
Turner syndrome is a non-inherited chromosomal disorder that describes girls and women with common features and physical traits caused by complete or partial absence of the second sex chromosome. After reading about the worst-case scenarios, I was actually able to find useful information.
If she truly had Turner Syndrome, so much makes sense now: her height, her inability to focus, her odd hairline, her hearing and vision, her multiple moles, her non-existent toenails at birth that are now oddly shaped. Several quirky little things that characterize Kaylei are some of the exact characteristics of Turner Syndrome. With this new-found knowledge and ability to accurately diagnose my daughter, I, like so many other parents, am officially an internet M.D. After spending countless hours - days and nights - researching TS, it was time to stop and just wait for the call.
The phone rang and without a lot of small talk the pediatrician said, "Mrs. Bellamy, Kaylei has Turner Syndrome."
I couldn't really say anything. I was already crying. I had researched enough to know that she could have health issues that we aren't even aware of. Here we are seven years later, and I still get emotional when I think about how lucky we are to have Kaylei.
This syndrome only affects approximately one in 2,500. Sadly, approximately 99 percent of baby girls with this syndrome die before birth. The common conditions for girls with TS include delayed puberty; infertility due to non-functioning ovaries; hearing loss; social difficulties; heart defects; kidney, thyroid and liver concerns; chronic ear infections; and puffy hands and feet. There are some common physical traits such as short stature (with the help of a growth hormone, the average height for a woman with TS is 4 feet 8 inches tall), small jaw, triangular face, many moles, high-arched palate and a webbed neck.
Kaylei has some of the conditions and traits of TS, and we are blessed by those conditions and traits. She has been taking a growth hormone shot for 6.5 years and has recently passed the 4-feet 8-inches mark. She'll tell you it's because she has tall genes.
As far as school goes, Kaylei, like many other girls with TS, struggles with math. Because Kaylei has a few other learning difficulties and special circumstances, her teachers allow her a little extra time in completing assignments and will give her additional guidance as needed. We are so fortunate to have an amazing group of teachers and staff at her current school, Peakview Elementary, who have partnered with me and my husband in providing Kaylei with the necessary tools that she will need in moving on to middle school.
Overall, Kaylei is fine and will always be fine. She is an amazing girl with a healthy and happy outlook on life and is looking forward to the day I stop being so overprotective. I hate to tell her, that day will never come.
To learn more about Turner Syndrome, please visit www.turnersyndrome.org