Metamorphosis- Growing up with Turner Syndrome

1. Starting with the basics- A (relatively) short introduction to TS

I am going to start at the very beginning. On the day, that divides our lives into a "before" and "after". I was thirteen years old, it was a warm, sunny day in June. I had been at a doctor's office getting my blood drawn a couple of weeks before, and since then, I could not quite stop worrying about those test results. On the morning in question, my father, who is a physician, invided me out to get an ice cream later, which he had never done before. Ironically, right in that second I realized something in my life was about to change dramatically.  We did get our spaghetti ice that afternoon, and everything after that is just a blurr. I shut down. Next to my father, I followed the same streets home I had taken countless times, silently, not daring to ask a single question. The silence that started on this afternoon was to continue for the best part of the next three years.

If you hear the phrase "Turner syndrome" for the first time spoken out by a doctor, maybe in a white, cold room smelling of hand sanitizer, I am prepared to bet you will freeze in horror, too, and wonder, what the hell that person is talking about, eager to ask him a million questions, yet at the same time deeply afraid of all his answers. This is exactly, how I felt, anyway. Maybe, hopefully, you are not like me. I have TS, and for a long time, I kept quiet, unable to speak up for myself. If I now state that social anxiety is well described as a symptom of TS, I still cannot and will not let TS define me or serve as an excuse for anything. So I finally faced my fears and wrote this text, about everything you would like to know or you wish you could forget about Turner Syndrome.

I believe almost no one knows all the characteristics of TS, until they start researching it, because a mysterious medical term has suddenly become a very personal issue. Googeling, reading, worrying, you start to understand, that there are enough doctors who have no clue about what TS really is, that there are many more who only have a very vague idea. You start to understand, that you will have to be the one in control, you will have to advocate for yourself. So you continue reading, and once you have skimmed through the main facts, dealing with the diagnosis only gets harder. On the internet and in medical textbooks alike, you will find page after page listing all the characteristics of girls with Turner Syndrome. They will first and foremost say, that TS is a chromosomal abnormality, in which all or part of the second sex chromosome of a female is missing in part or all of her cells. They will continue to tell you how this deletion of the x- chromosome causes stunted growth. (The average final height for an adult not treated with growth hormone is around 1.45 m/ 4 feet 9 inches, and even with growth hormone shots you would not typically expect us to grow much beyond 1.55m/ five feet one inch, although even up to ten centimetres more than that might in some cases be realistic). They will mention, how TS- girls almost certainly deal with infertility due to premature ovarian failure, frequent otitis media (ear infections) probably resulting in some degree of hearing impairment, and lymph oedema (i.e. puffy hands and feet). They will name other common symptoms like high blood pressure, obesity, learning issues (mostly similar to or diagnosed as NVLC- Nonverbal Learning Disorder). Following that, they will list all the other health issues we are at an increased risk for. At this point, that article will get really scary, because the list seems to go on for pages and pages, from physical characteristics, like a webbed neck, cubitus valgus, Madelung deformity, multiple pigmented naevi to congenital heart disease (bicuspid aortic valve, coarctation of the aorta, hypoplastic left heart syndrome), aortic dissection, long QT- syndrome, type two diabetes, liver and kidney abnormalities, autoimmune disorders (Hashimotos Thyroiditis, Celiac Disease, Inflammatory Bowel Disease, Arthritis) to mental health complaints like depression and anxiety disorder, and it goes on and on. Even, if you are affected by the condition yourself and inevitably start to recognise the most frequently used medical terms, you would literally have to learn an exhausting, at least partly incomprehensible list by heart to be able to name all the ways in which TS can affect an individual. Which is one of the main things you, obviously, SHOULD NOT DO, because it can hardly do any good and will instead cause harm to live in constant apprehension of so many things, most of which will in all likelihood never happen to you.