On the Strangeness of Turner’s Syndrome: Personal case account
*Contains vivid recount of endoscopies
Transgender people. Gender fluidity. These are pretty common topics these days, and with the increasing discussion around it, it’s now fairly common knowledge that trans and gender-fluid folks have existed since pretty much the dawn of civilisation.
Yet the waters of intersexuality are just as complex and often misunderstood.
Do we categorise intersex people as those with ambiguous genitalia? Or do we go deeper into the genes and address it from there?
I was supposed to be born with two X chromosomes: a traditional cisgender girl. For nineteen years, I assumed that was just the case. And then, thanks to a couple of suspicious nurses who were on the ball, I had my blood drawn and my karyotype (my chromosome map, such as it is) was examined properly. The results were clear: I was missing my second X chromosome, and by all accounts I should be dead, for only 1to 2% of babies with Turner’s Syndrome survive past birth.
But the journey to that diagnosis was ridiculously long and meandering, and indisputable evidence of the global phenomena of doctors ignoring and downplaying the pain of women and children. It began when I was around eight, from another medical disaster completely unrelated to my eventual TS diagnosis. A deep, throbbing and inexplicable ache had started in my right thigh, and would continue on and off for eight years. From eight to sixteen, I could be found on couches and beanbags with a hot wheat pack on my leg, sulky from pain, and pretty much every doctor my mother took me too just dismissed it as growing pains. Mum and I had both reached breaking point near my sixteenth birthday. We’d finally managed to hassle a GP into organising an X-ray on my right femur, and later that day he called us in with a sheepish expression and showed us the X-ray: a large ball in the middle of my right femur, where the bone had been pushed outwards by the tumour that had been steadily growing inside the bone for eight years. Soon after, a biopsy of the tumour was taken. In early December 2012, I was undergoing the surgery to completely remove the tumour and was finally in recovery mode.
But while the surgery was thankfully a complete success (five years later I was declared entirely cancer-free, with no indication of more tumours), my surgeon failed to bring to attention one critical little detail from the biopsy. In fact, I’m pretty sure he mentioned it, but he didn’t press the issue and I was too busy recovering to pay much attention. The biopsy had showed that I was missing my second X chromosome, and he must have assumed that, despite it being a very distinct genetic marker for TS, it was simply the tumour exhibiting strange genetic traits, as they sometimes do. He never pressed for a full karyotype of my healthy blood, and I was left in peace for a while.
Three years after, and I had just turned nineteen. I had no idea that I was about to hurtle into my TS diagnosis in pretty much the most ridiculous way possible. See, most people with TS receive the diagnosis around nine to thirteen years of age, primarily due to delayed or absent puberty, which is one of the most ubiquitous and obvious traits of Turner’s Syndrome. Yet I went through puberty without a hitch, so no alarm bells were raised. I did, however, occasionally get a particularly heavy period, and that was how I wound up in hospital in the middle of 2015. I was hauled through emergency, and soon they decided to give me a blood transfusion because the tablets they gave me to stop the bleeding weren’t acting quickly enough. Anyway. As I was sitting there, still groggy from blood loss while someone else’s blood was being pumped into me, the nurses looked through my medical folder and eyebrows began to raise. I’m not sure if it was the biopsy results from three years before that gave it away, or maybe alarm bells were set off by other things in my medical history, but they suggested I have my karyotype analysed for Turner’s Syndrome. I agreed, because hey, it would be pretty cool to see what my genes look like anyway.
Mum and I had only heard of Turner’s the year before. A family member had fallen pregnant, but had to have an abortion because the foetus was too badly damaged by TS; even if she had survived after birth, she would have been badly disabled, and her mother did not have the capacity or resources to look after her. Mum Googled TS to find out more, and she mentioned off-handedly that I seemed to have some of the symptoms. I shrugged it off, convinced that I was just weird, until I received my diagnosis a year later.
And so, the end half of 2015 was the beginning of my gauntlet of medical tests.
TS has a thorough list of signs and symptoms, and they all vary by individual. Common ones include proclivity to diabetes, obesity, and similar conditions (which I thankfully do not have).
And here are some others:
.Coeliac disease (TS patients have an abnormally high rate of Coeliac disease, and sadly I tested positive for this, so no more bakery trips for me)
.Webbed neck and lymphedema (usually present at birth)
.Heart problems (My heart scan showed up a bicuspid valve- it’s meant to have three valves)
.Hypertension (I’m actually unusual for my low blood pressure)
.Bone problems such as osteoporosis, primarily from lack of natural oestrogen; I have been permanently on the pill since my diagnosis in order to ensure a healthy supply of oestrogen in my body
.ADHD and other learning difficulties (my brother got the ADHD, not me)
.Hearing and vision problems (I am short-sighted)
.Kidney abnormalities (thankfully mine are healthy)
.Reproductive issues and infertility, most notably ovarian failure
.And, in pretty much all cases of TS, the most obvious and common trait is short stature.
I’m 145 centimetres tall (four foot nine), and weigh around forty-five kilograms (99 pounds). By all accounts, I am tiny, and the perfectly average height for someone with TS. I’ve been small for as long as I can remember, so I’ve never known anything different, but I still wonder what could have been if I’d been diagnosed as a child and received access to growth hormones. It was far too late when I was nineteen, but such is fate, and I am still small.
Predictably, I also exhibit the other most common trait of TS: infertility. Despite having a remarkably normal puberty, my hormone tests and ultrasounds showed shockingly low egg reserves in my ovaries. So unless I have a miracle pregnancy, my best option for future biological children was to harvest what remained of my eggs and hope that some would be viable for IVF. After much discussion with my specialist, I concluded that the effort and cost was not worth it, so I declined the fertility treatment. That was an easy enough decision for me; I have no interest in being pregnant and a mother, and if I ever want children, I’ll be happy to adopt. But I can only imagine the devastation such news would bring to someone who does want to have biological children.
Way back in school, I had shown another trait without even realising it: an undying hatred of maths. Many with TS struggle with spatial issues and advanced maths, yet many of us also excel with language, and that has been a very notable consistent throughout my entire life. I can write killer essays, but for the love of everything holy, please don’t send me a maths equation. Maybe I could have received educational help if I’d been diagnosed earlier, but I managed to scrape by with help from my more mathematically-inclined friends, and now I can safely avoid any maths that doesn’t involve a calculator.
So far, the most pervasive and annoying issue is Coeliac disease. First there was diagnosis itself: the horror that is the endoscopy. I’ve had two endoscopies thus far, and both times I opted to do it without being put under anaesthetic, because I’m impatient and wanted to get out of hospital as quickly as possible. So I can give a blow-by-blow of the process. First comes the one of worst parts: the nurse puts a guard over your mouth to keep everything stable, and then you see the tube coming for you. They keep reminding you to breathe through your nose, but even so, you start to panic as you feel the tube enter your throat, and then your gag reflex kicks in and you start to sputter awkwardly whilst trying not to do exactly that. Soon, you feel the tube go through your digestive system and you just lie there, trying not die as your mouth overfills with saliva and the nurse tries to keep vacuuming it up like a dental assistant does. After what feels like both an eternity and a surprisingly short time later, you feel the tube coming out, and you now know exactly much saliva you can produce in mere moments when the time calls for it.
So, word to the wise: probably opt for anaesthesia if you’re booked in for an endoscopy.
These days, one can adopt a purely gluten-free diet with minor struggle. There’re more options now, thanks to the mass of gluten-free fad diets demanded by people who don’t even have Coeliac’s or a gluten allergy, and of course there are numerous fruits and vegetables which are perfectly safe for eating. The real issue is the cost. A small loaf of gluten-free bread is around four to ten dollars. GF flour, snacks, other cooking bases, and frozen meals are more expensive as well. Going out is a minefield; I have limited options, and I can never be certain that GF products haven’t been tainted by nearby non-GF food. But hey, I’m resourceful and can always find something- or at least pack my own lunch- and most people are happy to try and accommodate other people’s dietary needs, because nobody wants to be the guy who accidentally gets someone sick.
It’s been nearly five years since my diagnosis, and at the end of it all, life hasn’t changed that much except for my new dietary needs. I’m scheduled for another heart scan when I’m twenty-five, and will need another heart scan every five years after that, but otherwise everything has gone back to normal, and most people seem to continue to think that I’m just unusually small. Which is also normal.
And so concludes my account of Turner’s Syndrome. I’m extremely lucky to have gotten so far and stayed so healthy, and for anyone who came here to get an insight into TS, I hope this little article helped.
