Experiences- Somehow different, but not quite- The impact of TS on me

“They called about the results of your blood tests. They found something”.

On another random afternoon when I was twelve years old, these words changed my whole world in just a second`s time. Monosomy X. Turner Syndrome. My father, a radiologist, explained the basics to me on a long walk home through Würzburg, Germany, where we lived at that time. Somehow, I was unable to process much of what he told me at that point. Least of all did I understand how significantly that diagnosis was likely to impact my life.

Even as I am just seventeen years old now, having TS has meant different things to me over the years.

At first it meant taking growth hormone shots every night. I administered them myself, and at first that needle did make me - slightly uncomfortable, as it probably would make anyone. Nobody ever made a big deal out of it however, and soon it became just a part of my routine. Having TS gave me an explanation for why I was shorter than all my classmates. Yet, “being short” was never my real problem. My problem was “being different”, and I had a feeling that physical height, or any other physical characteristics for that matter, only seemed to play a very minor role in that. It was not until much later that I learned about NVLD and how “being different” might in fact be connected to TS. Meanwhile, the biggest way TS impacted me was doctor visits. Regularly, every two months at first, every three, then every six months as time went on, we would spend a morning at the teaching hospital (“Universitätsklinikum”) of Würzburg. They did all the testing one should do, EKG, Echo, X-ray on the wrist, ultrasound of the abdomen, tons of bloodwork, oral glucose tolerance test. Between that and the Growth Hormone, German healthcare insurance really is a blessing, but of course, that was not what I worried about at the time. I was scared, out- of- my mind- scared, over the weeks leading up to each appointment, mainly because of what I have come to call “solid half knowledge”. In between those appointments, I did not want to hear anything about TS or talk about it at all, but of course, I could not help but pick up one or the other thing that could go wrong if one has TS. Being a rather curious twelve-year-old, I also knew a little too much about a number of not- TS- related conditions and illnesses, that could be found with some of the screening done. I knew about a bunch of unpleasant medical tests. So I was aware of quite a few scary possibilities, but, not unlike many people dealing with TS, I did not really understand how unlikely many of them were to affect me. Almost all of the testing done came back normal, and I thankfully still do not have any major health issues to this day. Having a father who is a physician proved both an advantage and a disadvantage for me over the years. On the one hand, we spent about half the time somebody else would have needed at the hospital for all of those check- ups. He even did some of the testing, the ultrasound of the abdomen, and later the cardiac MRI, himself. Also, I could have asked him almost any question, which I, obviously, never did. On the other hand, any other doctor we met automatically seemed to assume that I knew just about everything I needed to know. Until recently, I did not.

Fast forward to when I was around 15, I was started on estrogen, I discontinued GH some time later (with a final height of 1,54m, which is five foot one inch), I was put on progesterone (or rather a synthetic hormone acting like progesterone) a few months after that. I finally experienced some kind of puberty, a few years later than I should have, and got my first period. At some point during that timeframe, it must have begun to dawn on me, that non- functioning ovaries, in all likelihood, equals no spontaneous pregnancy. I was left strangely untouched by that realization, as I mostly was by all the changes my body was going through. That is by no means a typical way to look at it- but all of it was physical, and I generally did not care about physical things, except for if they were painful or dangerous.

We moved, and once again I failed miserably at making new friends. I also started taking driving lessons, which is a rather sad and seemingly never- ending story.

Then, at some point, I started to read more about TS, watch more videos. At first, it was all but a conscious decision. I was sitting in front of my laptop petrified, listening to everything presumably wrong with me, both physically and cognitively. Until something unexpected happened: With every time that all- too well known list of risks and symptoms was recited to me, it`s impact on me seemed to get smaller, fade away. I started to question some of the more dubious or plain wrong information out there, until I truly believed I could cope with the knowledge of everything. I could. I can.

And instead of informing myself about my condition out of pure necessity, curiosity became the driving force for watching more videos, picking up new medical terms and concepts beyond what is important in our everyday lives. X- inactivation, balanced translocations, genomic imprinting, CrisprCas9. I would not know about any of those things, if I did not have TS. I would not ponder on big, uncomfortable questions other people my age have had no reason to ask.

All of this are ways in which having TS has impacted my life at some point. There is, however, one thing having TS most certainly did not mean. It never meant that there was anything I could not achieve. In all subjects (except for physical education), I was always top of my class. I participated in maths and physics competitions, and won several prizes. I took my A-level examinations (Abitur) this year, and finished with a top mark in my maths examination, among other things. My final grade in my A-levels was the best of my year. Starting this autumn, I am attending med school. Me having TS has little to do with me wanting to become a doctor, but it has everything to do with me wanting to become a clinical geneticist.

So what I want to stress is: Yes, there is a typical neurocognitive profile of TS, but we should not, never ever, let this or any other aspect of TS hold us back. If I am struggling with social relationships, if I am struggling with learning to drive, and someone else might genuinely be struggling more with maths than most children are- TS might have something to do with all of that, or it might in fact not, but knowing it might can actually end up doing more harm than good. It can lead somebody to give up too early, to make excuses for failures. That is what I experienced during my driving lessons. I was probably at a genuine disadvantage compared to others to begin with, particularly regarding visual- spacial perception, but I also, for the first time ever, had a ready- made excuse not to be too hard on myself. When I am now going to try to finally get my driver`s license, the best thing I can do is forget all about TS. And that is not easy. One of the things I am grateful for, is therefore that I was not diagnosed until all of us knew for a fact that I was not by any means “struggling at school”. We with TS might learn in slightly different ways than others, struggle in different areas than most, but all in all, our school performance and the professional degrees we achieve even tend to be above average. Like in many other areas, we are most often closer to what`s considered “typical”, than we and everybody else are lead to believe.

In between those rare times in my life when TS felt like a big deal for one reason or another, I was just another girl.

“Turner Syndrome” is only a name, that might describe part of who we are. It might mean everything, but has to mean nothing. Most of the time, that name only has the significance we give it.