Imagine. You are going in for a routine prenatal ultrasound, and a doctor tells you, with a slight note of concern in his voice: “Something seems to be wrong. Please try not to panic.” Imagine that, after a bunch of further testing, you finally get a diagnosis for your unborn child. Just two words. “Turner Syndrome”- and someone is telling you: “Please try not to Google.” Of course you end up Googeling. And crying. A lot. You end up panicking. As hard as I might try to imagine. I cannot.
I am an 18-year-old German girl, and I do have TS, but the day that changed my life was quite different from the one described above. Maybe it was not even one day, and rather a sequence of days on which I slowly learned about TS. For example, there was that day on which my dad, who is a physician, mentioned TS to me for the very first time, after getting both of us an ice cream, on a long walk home. There was also the day on which I got my first EKG and Echo, in blissful ignorance of what exactly the physicians were looking for. And that day I watched the first YouTube video that gave an overview of TS. A sequence of scary days. There were several factors that made receiving the diagnosis a little easier for me. For one thing, I already knew perfectly well who I was at the time- a healthy, strong- willed, smart girl who loved books and science. And did not have any desire at all to be “average” or “normal”. Someone, who knew far too much about far scarier medical conditions already. Moreover, I had never been treated differently from others by anyone, and that continued to be the case, because no one aside from my closest family knew of my diagnosis. And, last but not least, I could count on my dad for all the medical things during doctor`s appointments, and forget all about having TS in between those few missed schooldays. Still, there was that one day after which I knew that I had “something”, and after which the words “Turner Syndrome” became words I feared. My world had certainly changed in just a couple of hours, more than I had realized yet. Even I panicked occasionally, more anxious about the doctor`s appointments than I cared to admit, but how much more overwhelming and frightening must the diagnosis be to a pregnant woman, or even the parents of a young child with TS, when there are far more unknowns?
Where do you start, what do you expect? First of all: Relax, breath. It is going to be okay.
Secondly, inform yourself about what the implications of having TS can be. Your child will live a perfectly “normal” life, and have every opportunity in the world. TS is not a disability. You could think of it mainly as a risk factor for getting certain medical conditions. Relatively few of us have severe congenital heart problems (most of the children with TS and heart problems you hear about have a bicuspid aortic valve, which is yet another risk factor for some things, but does not have to cause any problem at all). Few have serious kidney and urinary tract problems that might require surgery- the horseshoe kidney is not one of those. Later in life, TS tends to make everything that typically comes with obesity more likely, predisposes us slightly to certain autoimmune conditions. There is nothing that cannot be screened for and treated should it arise; no one ever has all the possible problems at once. And a healthy lifestyle is even more important for us than for others. Life expectancy is close to normal if there is no severe congenital heart disease. Many of us do not have any other issues aside from being shorter than others, and dealing with infertility. The only other very common things are frequent ear infections in childhood, and, in part even unrelated to that, some degree of hearing impairment. There are some physical stigmata of TS, you could say “cosmetic problems”, but most of the time, they are not obvious to anyone not familiar with the condition. Growth hormone injections are something a child will get used to fairly quickly, there will be a few more doctor`s appointments while you are on GH (although after some time, I ended up at maybe one appointment every six months where all the necessary tests were done in one day, so not that bad). Once you are no longer on GH, you should see a cardiologist from time to time (every 3-5 years if nothing concerning is found), get some yearly bloodwork done, take your blood pressure regularly. That is it. Hormone replacement therapy is needed if the ovaries do not function, and is really not a big deal. Certainly, it is a lot less risky than hormonal contraception for other women. Are you going to spend a lot of time at the hospital? Maybe, but not necessarily. I have never even spent a single day as an inpatient in a hospital so far. Toi, toi, toi, knock on wood. Others might need to get ear surgeries, or, in rarer cases, open heart surgery at some point. Do you face any physical limitations in everyday life if you have TS? Probably not. If so, there should be a more specific reason than just TS, and you should definitely go see a doctor. What about cognitive issues? Please do not take the phrases “mild cognitive impairment”, “learning disabilities”, and “special support at school” that get thrown around a lot to mean that we with TS typically have an intellectual disability. With almost all karyotypes that are consistent with TS, that is just not the case. There is a typical neurocognitive profile of TS, which of course not everybody with TS will fit into neatly. It can be a lot like NVLD- which few people have heard of- a little like AD(H)D or ASD. There can be pronounced strength in the verbal domain, along with relative weaknesses particularly in the areas of spacial awareness, working memory and coordination. Early milestones of motor development might be reached a little on the later side of normal. TS comes with certain strength and weaknesses, like everybody has them, only maybe a little more predictable. Oh, and one fact that does not get cited often, is that we with TS actually tend to achieve above average educational outcomes and professional degrees, thanks probably to good verbal skills and determination. (We also do not have higher rates of unemployment than the general population.) That is not just me and my personal experience – it is even statistics. So TS in itself is in my opinion really not a valid reason to demand special support from schools, or think your child will need that- without considering every case on an individual basis. The main emotional struggles women with TS face have to do with body image and infertility. The link between TS and depression- is therefore probably more accurately a link between infertility and depression. And infertility is by no means unique to us with TS. These are the main points I would like to stress, but of course there are more relevant details than can ever fit into one text of reasonable length. Again, please inform yourself, and that is not only true for parents, but for us as well. If you have read a list with all the possible signs and symptoms of TS already, medical problems and physical stigmata cramped together as usual, it will not get any scarier. The good thing about TS is that it is not nearly as bad in reality as you think it is when first reading about it (which is by no means true for all medical conditions), and this is coming from someone who was too afraid to inform themselves properly about TS for the best part of three years. And paid for that dearly. Also, it is definitely a lot safer to know your facts whenever you are around doctors. It is safer emotionally, as well as physically, and it also helps you to be taken seriously.
Moving on to the topic of connecting with others who have TS. It can be immensely helpful to hear other stories, for example joining Facebook groups, but please keep in mind that many, many girls and women with TS never join any such group, because they are simply living their lives and do not feel TS is a huge part of it. Fortunately, we butterflies are not a lot that tends to engage in self- pity, but as humans, our brains remember stories and emotional posts far better than medical facts. So please, if you come across a heart- breaking story, are humbled by it, but do remember that this is not what TS has to be. TS is not a tragedy, it is a small part of our most often full and happy lives.
Parents frequently ask how they should treat their daughter with TS, and the answer to that is actually quite simple. Treat her just like you would treat any other child, knowing her is far more useful for making the right decisions in everyday life than knowing about TS. Please never, ever tell her that there is anything she will not be able to do because she has TS. I honestly cannot think of a single example for something we would not be able to achieve. Otherwise possibly lowered expectations towards me are the reason I am in fact grateful for not being diagnosed earlier. And demanding the same things from me as from my sister, always, is one thing my parents did right. If there are even any TS- specific pieces of advice, these would be: Treat your daughter according to her age, not according to her height or looks. And teach her not to be ashamed for who she is.
Dear parents, Googeling is okay if you do not stop your research after just reading the first page full of scary information that comes up. Taking some time to process everything might be helpful- but in general, you will want to have the full picture at some point. And I assure you it will be far less scary than you might be assuming. Being an emotional wrack, crying, panicking is okay. Just know that there is a silver lining. And that everything is going to be alright.
Dear young butterflies, you are exactly the same person today that you were before finding out about TS. Having TS does not have to make up a huge part of your identity, treating it as a risk factor for certain medical problems is completely fine. Wanting to find out more about which of your strength and weaknesses might be typical for someone with TS is completely alright as well. Please inform yourself about the medical side of things, it is not supposed to make you feel even more frightened, but to make you feel in control. Please take care of yourself and be your own medical advocate. You do not have to be afraid to find out more about your condition- and certainly not to the point that you start neglecting your medical care. It is just not worth it. Also, there are many ways of becoming a mother, and even girls who are born now will have options you and I did not have. Who knows what might still become possible one day, but if you want to become a mother, you will find a way. You are not flawed, you are a whole and perfect human being just the way you are. You can achieve anything you set your mind to. Everything is going to be fine.
These at least are the best pieces of advice I have for navigating the world we all get thrust into from one day to another, often with no one there to guide us. These are the things I wish someone would have said to me on that memorable day. I know it does take time to cope with a diagnosis of TS- but I can honestly say, that I have come to terms with it now. I am not a “sufferer” of anything, I am living my life just like anybody else. Currently, I am a first- year med student, and believe it or not, TS has little to do with my choice of going into medicine. Although it does have a lot to do with me being fascinated by the whole field of genetics. It has lead me to ponder on deep philosophical questions, it has given me the patient perceptive on healthcare. All of these experiences and learnings are invaluable. What it all comes down to, is something I had already realized at twelve years old. Contrary to what medical textbooks will tell you, there is nothing especially great about being “normal”. There is no shame at all in being “different”, what we should aim for though, is being extraordinary.
A huge thank you to Annelie and all our contributors for their thoughts and inspiration. If you have a story to tell contact firstname.lastname@example.org
Together we can help women and girls with TS achieve their full potential!