My Parents Gave Me a Voice Early On – by Alicia Hernandez

My journey navigating my diagnosis of Turner syndrome (TS) started around the time I was in kindergarten. My heart defects, amongst some of the other classic features like the webbed neck, had led to me to being diagnosed shortly after birth. There were many appointments and many times of unpleasant bloodwork.

By the time I was in kindergarten, I had started getting annoyed by the medical visits and bloodwork. I loathed bloodwork! I vented to one of my friends during lunch after my parents dropped me back off at school after another appointment requiring bloodwork. Although innocent enough, this conversation ended up setting in motion events leading to me finding out about my diagnosis.

I was shocked when my friend didn’t know what bloodwork was. How could someone not know what bloodwork was when it was done so routinely? I then started thinking “wait, this isn’t normal? What’s going on?” My spidey sense was triggered, and I was going to get to the bottom of things.

I asked my parents about it that evening after dinner. Once I asked my parents, I knew whatever they told me was going to be big. My parents assumed the serious talk position where they would have my sister, or I sit cross legged on the carpet in front of them while they sat on the couch. My parents started off the conversation by providing information that directly answered my question about why I had to get blood drawn and see all of the doctors.

From there, they opened it up to whatever questions I had about Turner syndrome. I don’t remember what I asked, but I remember my parents’ willingness to tell me whatever I wanted to know. It was scary to learn that I had this condition that would be lifelong. It seemed there was a whole new world I had to live in and learn how to navigate. I was overwhelmed in that moment.

After I finished asking questions, my parents focused on comforting me. At that point what I needed the most was the mom and dad hugs my parents provided. The hugs were the reassurance that whatever lies ahead, we would tackle together.

While TS was still a scary entity, I wasn’t a lone warrior riding out to battle against an army by myself. From that point on, my parents and I were travelers on the journey called Life with Turner Syndrome. My parents were guides at times along the journey making sure I made it to all my doctors’ visits. Sometimes they were my copilots helping me get into the habit of taking my medications and continuing to learn about the diagnosis. I could ask them any questions about TS, and we would work together to find answers.

My parents would sometimes answer my questions, and sometimes they would have me look up information and report back to them. They provided me with all of the literature they were given when I was diagnosed for me to read over. I became skilled looking up words in the dictionary, as my parents would often encourage me when there were words I didn’t understand in the booklets.

We continued to have discussions over how I was processing living with TS, and the different issues that came about. My parents helped me find ways to cope and become more comfortable with blood draws and eventually my growth hormone injections. My parents made sure growth hormone was something I wanted to pursue, and my dad, who was a medic, eventually taught me how to give myself the injections.

My parents also gave me a voice when it came to some of the decisions in my care. I had the opportunity to be followed by the craniofacial board at one point where a plastic surgeon was part of the team. We discussed some elective procedures like web release and revision of the low posterior hairline. Before consenting to the surgeries, my parents asked for a moment to discuss it with me. They learned what I understood and what questions I had and asked how I felt about undergoing the operation. They supported my wish to undergo the web release, as well as my wish to forego the hairline revision.

My parents encouraged me to take up activities like softball growing up. Softball was fun but my short stature from TS did cause frustration. Since I was a fast runner who loved sliding, my coaches banked on my getting walked due to my tiny strike zone. The batting training the coaches gave me was aimed at perfecting as low of a stance as possible and being ready to hold off on swinging while at bat. My parents would work particularly with me to figure out getting some power in my swing and connecting with the ball when they would take my sister and I to practice softball.

In hindsight, I wouldn’t change a thing on my journey learning about my diagnosis. Although it was scary, I know it was the right time for my parents to tell me. I had already perceived that there was something going on with my health, and I wanted to know what it was. I’ve always said I could be an Olympian if being a worry wort was an Olympic sport, so I know not knowing would have built up something much worse in my head.

The initial conversation let me know I could always come to them when I had more questions and wanted to learn more. I appreciate that they took their cues from me on how much information to give me and when, and allowed me to be part of the medical decisions as I grew up. The inclusion in my medical care from an early age gave me the confidence I needed to take over my care when I turned 18. They never minimized the challenges that TS can pose, but they encouraged me to work with the resources I had to find a path forward.

I don’t think I would have the relationship I do with TS if it wasn’t for the foundation provided by my parents. For better or worse, TS is my lifelong dance partner. Sometimes the dance is difficult, and it gets hard to keep moving. However, there is beauty in the dance, and I can’t imagine what life would be without it. I don’t know that I would so easily see the little miracles in life. I see the miracle in being 1 in 2,000. I see the miracle in making it through the surgeries I had. I see that even though there are dark moments like anxiety caused by fear of aortic dissection and sadness from infertility, there is so much beauty in the love of friends and family and the beautiful places this life has taken me so far.