“She’s Just Petite”: Susan’s Delayed Turner Syndrome Diagnosis

Diagnosed at 10 years old, decades later, Susan looks back at life with Turner syndrome (TS).

My Turner Syndrome Diagnosis

For me, the indication something was amiss was primarily my short size, but doctors back then weren’t really trained to look for Turner syndrome. I am still not completely sure that they all are today.

The family pediatrician just kept telling my concerned mom “No, she’s just little. She’s just petite. She’ll grow. It’s fine.” But my mom wasn’t quite just taking that at face value. She felt in her gut that there was something to this, because by the time I was 10, I was basically the size of a six-year-old. Looking back at class pictures from back then, I was always the smallest one.

I would say there wasn’t really anything else that was indicative of TS because I was pretty typical in other ways. I did fine at school. I was athletic enough. I had friends, liked school, did dance and gymnastics, learned to water ski and snow ski, traveled a lot with my family, and had a happy childhood.

I didn’t have major issues with learning or school-related problems that can affect some girls with Turner syndrome. There could have perhaps been something minor, but this never held me back. The more I’ve learned, it can be the way the brain works with Turner syndrome and the way it processes things, but I’ve also learned that it affects everyone very differently. I was lucky because I turned out to be a good student.

Finally, I got a new pediatrician who was a younger female doctor and she said “Yes, let’s look into this further.” I was 10 years old and should have been in the growth stage, but I was still much smaller than would be expected. So, she gave us a referral to Dr. John Parks at what was then Eggleston Hospital, but is now a part of Children’s Healthcare of Atlanta (CHOA).

Diagnosis and Growth Hormone

I was assigned to an endocrinologist at CHOA and spent three days at the hospital because Turner syndrome was still not easy to diagnose. They drew blood, did scans of my organs, and bone scans. Information from all these combined produced my diagnosis.

After they diagnosed me with Turner syndrome, they went to my mom, saying, “She is a really interesting case. Do you mind if I use her in my studies to let other parents who may have Turner syndrome babies know what to expect?” Part of what the endocrinologist found interesting was that, aside from being small, you couldn’t look at me and know I had something. My parents gave permission for them to use me as a case study.

They put me on growth hormone injections at first, then it switched to pills at age 14. The doctor talked to my parents extensively about this because, though it was routinely done so it wasn’t necessarily experimental, the treatment was new-ish back then. I ended up seeing that same doctor for years, even though he was a pediatric endocrinologist, because he was so interested in my case that he continued seeing me until I was 21.

Overall, things were hard when I was diagnosed with TS and had to give myself the hormone shots. I felt different, unsure how I felt about my TS diagnosis, I didn’t want others to know that I was different.

TS-Related Challenges

One of the main things that I’ve had to deal with regarding my Turner syndrome is a bicuspid aortic valve, which means you have two flaps rather than three. I had to have surgery to repair that when I was 31. They replaced my valve and part of my aorta because when they did the final scans, they found it was starting to enlarge my aorta. It had gotten bad pretty quickly because I wasn’t even diagnosed with it until my late teens. I’ve been on medications, blood thinners and beta blockers. I’ve suffered with arrhythmias, but my cardiologist is a specialist in that.

There has also been hormonal imbalance. They took me off the hormones that I had been on my entire life because they said that my body was going through menopause, so it was fighting against that, and also they said they also didn’t want me to keep taking them forever because there can be side effects.

I’ve never let TS stop me from progressing. I’ve got a master’s degree, I’m a pre-kindergarten teacher, and married. But one of the greatest struggles I’ve had is that of infertility. I always wanted to be a mom, and for most TS women that is not possible through the usual route of getting pregnant.

My husband and I decided to have our family through adoption, and we were fortunate enough to adopt our beautiful baby girl as a newborn, she’s now almost 18. This is a hard struggle for many TS women and one that we have to navigate in our own way and decide what is best for us.

The Need for Turner Syndrome Awareness

It all goes back to just knowing what TS is – the awareness – like being aware of that girl in school that may be smaller than everyone and questioning it a little bit.

One thing I’ve learned as a teacher is you are in a position where you can say, “You know, I’ve just noticed these things about her, you might want to talk to your doctor and just get her checked out,” because parents may not suspect anything.

When I go to the Turner Syndrome Foundation Facebook page, I see two things. I see mothers whose daughters have been diagnosed with it and mainly want to know what to expect. I want them to know that it’s okay, their daughters can still live a wonderful life. I also see other people who are older, in their 20s, 30s, 40s, and 50s, and they’re just looking to connect with other Turner syndrome patients and parents.

This is why community is so important. I have had the opportunity to connect with other women who also have TS but not as many as I would like. I feel like awareness and understanding needs to be brought forward and stories shared.

I have talked to other women my age and they feel it’s so important the doctors be aware of it. I can’t count the number of times where I’ve had to tell my doctors about Turner syndrome because they’ll say, “Yes I vaguely remember that. Can you remind me?”

Hopefully, by raising awareness, medical, educational, social, and emotional support can be the norm for those living with TS.