Every Sunrise Is More Beautiful Than Ever

February 4, 2018

 

 

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.  

 

Additional Resources

 

Ears and Hearing in Turner Syndrome

 

Turner Syndrome and the Heart