As we wrap up Turner Syndrome (TS) Awareness Month, the Turner Syndrome Foundation (TSF) would like to honor those who are living with or affected by TS. One way we do this is by sharing their stories in our monthly My Story blog series. Below are previews of the unique and inspiring stories to come in the My Story 2022 series.
Following are snippets of the unique and inspiring stories from women who have chosen to share to help spread awareness of and support for TS. Keep an eye open for their full stories (and others) in the My Story 2022 series.
I can’t really talk about my career decision without my TS story. My journey included drives to the Children’s Hospital of Philadelphia (CHOP). There, I had frequent blood work and imaging and more needles than any child would want. It was the friendly nurses and doctors at CHOP and other medical facilities who always made it easier. (It also helped that Mom would always buy me ice cream at the hospital McDonald’s after blood work; it was our deal.)
As I got older, I recognized we didn’t understand everything, but the doctors would always answer all of my parents’ questions and explain what was happening. They were with them every step of the way, even when it involved heart surgery at age two or giving me daily injections. Now I want to provide that same compassionate care I received to others.
For me, the biggest challenge of having TS is the emotional aspect–feeling different from others, the teasing I endured, and experiencing anxiety. That’s where the relationships I have formed with other women with TS here in Nebraska and at national conferences have helped.
I have been blessed to have had good health care. I would love to see more TS clinics, so that we who have TS could have the best care possible and hopefully have more of a “one-stop shop.” It would be so nice to take a day to take care of everything, instead of seeing the endocrinologist another, the cardiologist another, and then scheduling necessary testing.
Growing up, I felt a little different from my friends, since I had many doctors and didn’t start my period on my own. I also hated that I had to take the growth hormone shot. My poor mom said I was such a brat about taking them. But I am thankful that I did; it allowed me to be a little taller.
School was hard for me. I had to focus and study a lot more than my classmates. It took me longer to grasp the material. However, I got very good grades in college and am proud to say that I graduated and became a respiratory therapist. I really love my job. The hardest part for me is that I am unable to have kids; that is something that really bothers me. Going to baby showers is extremely rough for me. I feel I was meant to adopt and hope to do so in the future.
TS has given me a fighting spirit. Growing up, I was always athletic (softball, gymnastics, and cheerleading). I remember never letting TS stop me from doing my gymnastics lessons, cheerleading practice, or softball drills. Even as I got older, I never let my diagnosis stop me from getting an education, buying a house on my own, or fixing my current vision issues. It has made me a strong and resilient human being.
I am most proud of that fighting spirit I have to never give up. Sometimes I forget I have TS; it is just part of who I am today and has never stopped me from doing anything I want to do.
At six years old, I was (mis)diagnosed with Silver-Russell dwarfism at Stanford Children’s Hospital, primarily due to my short stature. This was back in the mid-1970s, and so much more is known now than back then. At 12 years old, my step-mother wanted to find out more about Silver-Russell dwarfism, and we went back to Stanford Children’s Hospital. The doctor at that time (1981) took one look at me and knew I had TS instead. He ordered a karyotype test to confirm his diagnosis.
At that time, I was immediately started on growth hormones (Anavar). I had regular appointments for routine check-ups and to see if my growth plates had fused, along with other tests such as kidney function and shape (all good, but horseshoe shaped). My parents and I were also told that I would eventually need to be on hormone replacement therapy (HRT) around the time my bones fused, so that I would start puberty. It would help me get as much height as possible (I ended up being 5′ tall).
There is truly not an area of my life that isn’t impacted by TS. Since it is an endocrine disorder, multiple body systems are involved, which presents a challenge when taking care of your health. Mentally and emotionally, the impact is most acutely felt with the overwhelming sense of having to juggle all the things you have to take care of.
There is also the exhaustion of constantly compensating for the lack of the missing or damaged chromosome. Socially, people can be rude or ask inappropriate questions regarding your size and stature. Or they don’t understand that some things are just beyond your capability because of having TS. In my life, I am most proud of the fact that I persevered through the obstacles and challenges to become an RN. Obtaining my RN license is my greatest accomplishment.
Woman with TS
I have had to work hard at understanding others’ social cues, listening to them carefully and watching their body language at the same time. I also have struggled with putting my emotions into words and have had to work at expressing them. Often, I would not express how I was feeling, and it would bottle up. My parents are the people I can rely on to express those emotions to.
I often have had to be my own advocate when it comes to medical care. Now I have a great primary care physician who follows up with me to make sure I have been seen by all my specialists. My suggestion is to be your own voice and find a primary care provider who will help set you up with the necessary specialists.
Not being able to have children has affected me the most, in terms of relationships and getting close to people. Even now, my relationship with my fiance is highly impacted, which has caused me to have depression. We plan to adopt.
Having nonverbal learning disorder (NVLD) has made schooling and being in social situations difficult. I have worked two jobs, have my own place, and am preparing to get married. My greatest accomplishment is working in a hospital.
Share Your Story in the My Story 2022 Blog Series!
Sharing your personal story is a powerful way to spread awareness and help build community among those affected by TS. It helps others facing similar challenges, and it can boost your self-confidence when you share your amazing achievements.
Even if you think your experience with TS is not “special,” it might strike a chord with someone and help them feel like they are not alone. Whether you are a patient with TS, a parent, a family member, or a caregiver, please consider sharing your story in the My Story 2022 series here. Our lead editor will contact you and help draft and format the post.
Written by Susan Herman, TSF volunteer lead blog editor.
© Turner Syndrome Foundation, 2022