Every Sunrise Is More Beautiful Than Ever
February is Turner Syndrome Awareness Month. I would like to kick it off by sharing my story. It is personal, but I share it for awareness and education.
I was born February 4, 1976. I was a healthy baby and had no signs anything was wrong. At 13 months, my pediatrician noticed I had dropped off the growth charts and wasn't really growing. He told my mom he needed to run some tests. Given that I was so healthy in every other way, my mom argued with him. She explained that I come from a very short family. She is barely 5 foot 2; my dad is 5 foot 10, and my paternal grandmother was only 4 foot 8. Nevertheless, the doctor insisted.
Sure enough, I was diagnosed with Turner syndrome (TS). TS is a chromosomal disorder that occurs in approximately 1 in 2000 live female births. Only 2% of babies with Turner syndrome survive to be born. In Turner syndrome, there is a complete deletion or partial deletion of one of the X chromosomes.
The two primary characteristics of Turner syndrome are very short stature and premature ovarian failure. I am 4 feet 9 inches tall. As a baby and throughout my childhood, I had numerous ear infections. When I was 3 years old, I wasn't really talking. I didn't really respond when my parents called me. When I did talk, I was only speaking 1 and 2 word phrases. My parents had my hearing checked, and found I couldn't hear. I had to have tubes put in twice at 4 and 5 years old, and I had my ear drums repaired (tympanoplasties) when I was 6 and 7. I started kindergarten when I was 5 with hearing aids, and I have been wearing them ever since.
When I was 4, my mom heard about a research study being done at the National Institutes of Health (NIH) in Bethesda, Maryland. It was a double-blind growth hormone study. I participated in this study from the ages of 5 to 17. It helped to get growth hormone therapy approved for girls with Turner syndrome, which is now standard treatment. I am so proud that I was part of this study, and that I get to see how it's benefiting younger girls now.
In school, I made very good grades. I made mostly A' s and B's. The main subject I always struggled with was math, in which I typically got C's. My dad helped me a lot. Throughout high school, I had a tutor for math. As long as I sat in the front of the classroom where I could hear the teacher, I did fine. I also studied very hard.
In high school, I discovered my love for languages. I took 4 years of Latin, 2 years of Spanish, and 1 year of German. My verbal skills were always very strong. I went to the University of Oklahoma and majored in Spanish Foreign Language Education. As an adult, I taught for 2 years. I was a Social Worker for 10 years. I have been married for nearly 14 years.
I took part in another NIH research study back in 2006, 2007, and 2009. It was a heart study. I was eligible because I had a bicuspid aortic valve and aortic aneurysm. Just this past April 5th of 2017, I had open heart surgery to have both replaced. It was a difficult 6 month recovery. I made 4 additional trips back to the hospital after the surgery. I had a total of 3 lung taps. I made it through with lots of prayer and support. I am thankful I am still here. I thank God. Every morning that I open my eyes now is a gift. Every sunrise I wake up to see now is more beautiful than ever to me.
Charity serves as the Treasurer of the TSSUS Texas Gulf Coast Chapter in the Houston area. She is a dedicated volunteer and is engaged in service to the TS community.
The Heart of the Matter: Cardiovascular Concerns in Turner Syndrome, by Jeanne James, MD and Nicole Brown, MD
Video of Presentation from the Turner Syndrome Society of the United States National Conference, July 23, 2016, Cincinnati, Ohio