Autonomy Allowed Me to Imagine a Successful and Happy Adulthood - by Claire Harper
The support I received from my parents and my medical care providers when I was diagnosed with Turner syndrome (TS) changed my life. This is the part of the story I’ve told a million times. Iteration after iteration, it changes in pieces along with me, but the facts remain the same. My mom figured out that I had Turner syndrome. She didn’t know I was missing an X chromosome, but she knew something wasn’t quite right. TS is a rare medical condition characterized by a single X chromosome instead of the typical XY or XX pair.
I was always the smallest kid in my grade, despite the fact that my dad is six foot three inches. I also struggled with athletics in a way no one else in my family did. I had more food sensitivities and ear infections than anyone else in my family. By the time I was in middle school, my mom had been trying for years to figure out why my development just didn’t seem to match. In retrospect, my presentation as a child was mild but typical of a kid with TS. I am very lucky that I’m a middle child whose sisters are close to me in age. They provided valuable points of comparison for my own growth and development. Despite our two year age gap, by the time we were in school, my younger sister and I were often confused as twins. When I failed to show signs of puberty in line with the trajectory of my two sisters, my mom finally stopped accepting the reassurance of my regular pediatrician.
She took me to Dr. Hamil, a pediatric endocrinologist. I was 12, years away from the age general pediatricians are taught to be concerned about delayed puberty, but Dr. Hamil knew immediately what was going on. She did a physical exam to assess my development. The speculum exam, in which she placed a tool inside my vagina allowing her to open and visually inspect the tissue, felt funny. I gave consent for the exam, but it still left me feeling vulnerable. I was confused as to why all the adults were making such a fuss. I was short and pudgy and unathletic, but those things don’t equate to a medical diagnosis. Dr. Hamil ordered the appropriate labs, including a karyotype that would map each of my chromosomes from a blood sample.
I don’t remember how long it took for the labs to come back, but not long after that my parents sat me down in the cozy front parlor of our suburban farmhouse. They told me that they had heard from the doctor and that I had Turner syndrome. They explained to me that I have one X chromosome instead of two. That’s why I had always been so petite, and why I hadn’t shown signs of puberty yet. They reassured me that I would be meeting again with the doctor and would be starting treatment. Then, they said, nervously, they needed to tell me one more thing. I wouldn’t be able to have biological children myself.
People with Turner syndrome rarely develop eggs, because our ovaries can’t develop without cues from that second X chromosome. For most women, our eggs develop while we’re still in utero, so by the time a child with TS is born, it’s already too late. There are some rare cases of women with TS who do have a few eggs, but I was told quickly and clearly that I was not one of them. For other people with Turner syndrome, a diagnosis can happen prior to birth through prenatal genetic testing, or any time up until puberty. It depends a lot on how the condition is presenting itself and the medical needs of the child.
My needs were relatively minor compared with many people with TS. My parents also told me that there was the possibility that I might be able to carry a pregnancy in the future with the help of an egg donor and that fertility advances were happening all the time. I was already a kid who loved other children. Even then, I knew that I wanted to be a mom. In contrast to my sisters and many of my friends, I was eager to babysit. I found the prospect of pregnancy and caring for babies exciting rather than gross or scary. My mom checked in with me a short time later on how I was feeling and thinking about the news. My immediate response was, “I’ll just adopt. That’s fine.” I was thirteen. I was interested in who would be cast in the next school play or if anyone would ever want to kiss me. My reproductive life plan could wait.
If I ever wanted to be taken seriously, though, I needed to get my treatment started. I was sick of adults talking to me as if I were several years younger than my age, and this was the answer. I was so excited by the idea that I would catch up to my peers. I could finally achieve that promised normalcy that eludes all teenagers. I still talk about how warm my pediatric endocrinologist was, and how well she supported me in navigating treatment initiation. The biggest choice I had to make was whether to start estrogen right away, or to delay estrogen initiation in order to take growth hormone for 1-2 years. Starting estrogen would cause my bone plates to close, making the growth hormone less effective. The trade-off, of course, was that puberty would continue to be delayed. I decided to take growth hormone and embarked on a year or two of nightly subcutaneous injections at home. Beginning growth hormone can be a controversial choice. Would I have been fine without growth hormone? Probably, but I’ve never regretted the decision to use it. I didn’t want to spend the rest of my life being the smallest person in the room. It’s challenging to navigate being an emotionally and intellectually mature kid when your body doesn’t match.
Specifically, frankly, I wanted to be taller than my mom. I realize that even being given this option was an immense privilege. I had a nurse come to my home to teach me how to administer the shot myself with the smallest, teeniest little needles that slipped into the tissue between skin and muscle. I rotated each night between my belly, my thigh and the back of my arm. My dad would occasionally help me, but my mom flat out refused. She told me upfront that she didn’t like needles and I was on my own for the injections. I still give her a hard time for that. Teaching your child to maintain their own daily medical treatments is certainly a great way to build resilience and responsibility. Once I started on hormones, I noticed more muscle development.
At one point, I asked why I had to start estrogen, and I learned that estrogen is important for muscle and bone health. Even if I didn’t care about having breasts or body hair, estrogen and progesterone would be important for my health. I felt stronger after starting the growth hormone. After starting estrogen, though, it felt like everyone in my life could see the change. During my freshman and sophomore years of high school, I was cast twice in school productions as a child. After a summer away on birth control pills for the first time, I was cast as a femme fatale in a red dress tossing out sassy one-liners. It was humbling to be able to connect these changes to medical treatment and care. I felt a little as if I was tricking everyone. I was also incredibly relieved that my body finally matched my age. I felt a sense of control over the way I presented myself in the world. It was never presented as gender-affirming care, though of course it was. It was just the care that I deserved as a growing person.
Throughout my diagnosis, my parents and my endocrinologist affirmed my right to make decisions around my hormones and medical care. None of this was perfect, but their trust in me allowed me to imagine a successful and happy adulthood with or without biological kids. This was originally published, along with more of my story, on substack at https://substack.com/@claire769624
