My name is Elizabeth Hartsell, and was diagnosed with Turner syndrome at 14 years old. My Turner syndrome story started long before then. I had delays in all motor skills. I never met any of my milestones as a young child, and I was unusually short.
I didn’t speak until I was almost three. I had chronic ear infections, which didn’t help my speech development. I was in speech therapy from the age of three until the third grade. I was sent to doctor after doctor to try to ﬁgure out what was wrong with me. They thought I was ADHD at one point. It was true that in school I needed help to keep up with the other kids.
I was put on a 504 plan from the time I started school until I graduated. I worked twice as hard to keep up with everyone else. Homework mostly evolved tears and frustration. Despite my eﬀorts, I had to be held back in the ﬁrst grade; but I didn’t give up.
My struggles in school weren’t just academic; I struggled socially as well. I didn’t have many friends growing up. Like a lot of girls with Turner syndrome, I was emotionally younger than my classmates. I couldn’t relate to them, and they couldn’t relate to me. I always felt lonely and wondered what was wrong with me. I spent many nights crying and begging my mom not to send me to school.
My mom didn’t know how to help me; no one seemed to. This depression that started to develop hovered over me for the longest time. I didn’t know how to be happy with myself. I was so lonely from struggling to relate to my classmates. There were times when I thought about ending everything; that there was no way I could have a healthy life.
When I started middle school, I wasn’t growing or gaining weight. I was in the seventh grade and only weighed 65 lbs. My primary doctor felt something was wrong and sent me to UNC-Chapel Hill Children’s Hospital for further testing. They did a complete examination, along with drawing twelve vials of blood to be tested. The karyotypie test they ran on some of my blood came back showing I was missing one of my X chromosomes, meaning I had Turner syndrome. It was a relief to finally have an answer.
We were able to help me improve in school and emotionally. I was put on medicine to help me grow and to go through puberty. I also reached out for help with my depression. I went to therapy that became a great help. I am now a happy 25 year-old college honor student who works full time. I also made a signiﬁcant change by moving 900 miles away from my family last March.
I've been handling my health care for the past ﬁve years, but this was a signiﬁcant change for me. I'm so glad to have the doctors I do here in Boston. The Turner syndrome clinic here has the most knowledgeable and caring doctors I've ever met. This medical team has taken the weight oﬀ my shoulders when it comes to my long-term health care. They have been great working with my insane schedule.
I love my crazy, busy life!
Transitioning from Pediatric to Adult Care by Sarah D, Corathers, MD
Video Presentation from the Turner Syndrome Society of the United States National Conference, July 23, 2016 Cincinnati, OH
Clinical Practice Guide for the Care of Girls and Women with Turner Syndrome
Healthcare Guidelines and Checklists