Meg Cubitt: Turner Syndrome Awareness Day

Turner Syndrome is a genetic chromosome abnormality affecting only females. Males are typically born with 46XY chromosomes, and females are usually born with 46XX chromosomes. Girls with Turners are born with 45XO chromosomes. We have one normal X chromosome, and the other is missing or partially deleted. It occurs in 1 in every 2500 live births, and there are still so many undiagnosed girls without the help and support they need.

I was diagnosed with Turner Syndrome at the age of 9. It is a cradle to grave condition, meaning I was born with it, and will live with it for the rest of my life. To read my diagnosis journey in depth, check out my mums blog from the beginning!

Conference 2014

The first sign of TS my mum noticed in me was my height. I was the same size as my sister, who is 5 years younger than me. I took daily injections to boost my height. I would've probably been between 4'3" - 4'5", but now, thanks to modern medicine, I stand at 4ft11! I have a congenital heart defect called a bicuspid aeortic valve. This means I only have 2, instead of the usual 3 parts to the valves in the main part of the heart. Thankfully, it's not an issue that requires immediate surgery. Another sensitive topic TS girls deal with is infertility. This could be a whole other blogpost on its own, but I’ll briefly go over it for now. Most girls take oestrogen pills and are unable to naturally conceive. I am incredibly lucky in the fact I am the 1% of girls born with TS that are in fact fertile. When the time comes that I want to think about have children, I have the possibility of having my own eggs harvested and used in IVF treatment, regardless or not of whether I am the one to carry the child in pregnancy. If that doesn't fall through, there is always adoption. There are always options.

Conference 2012

Anyone who has watched a film or even had a conversation with me knows my hearing is rubbish! Subtitles are always on the TV, and I cannot hear what you’re saying to me unless you stand right in front of me so I can lip-read you – a skill I learnt at a very young age. I can also fingerspell the alphabet if needs be!
I also have an underactive thyroid, a curved spine, hearing loss, and a characteristically turner face with droopy eyelids, low set ears, and lots of moles. As a child I was incredibly hyperactive and I never slept. I would constantly be 'running blind', I was, and still am, very impulsive and have no concept of danger. For example, at the age of 7 I wouldn't think twice about darting straight into a road full of traffic to get to the other side. I wouldn't pause and think about the cars or waiting for the traffic lights or other people, all I would think is 'I need to get to the other side as soon as possible.'
To all the mums and dads raising us Turner girls, you're doing an amazing job. And thankyou. We will go to sleep one day! We are all so lucky to have parents that constantly fight for us, and we are so grateful.

Conference 2011

I used to struggle with friendships as a child. Not because I was shy, I was definitely a very confident little girl, (you’d often find me performing songs by Steps or S Club 7 anywhere we went… restaurants, trains, outside peoples houses – the world was my stage!) however, I actually find it hard to interpret facial expressions and assess situations based on how other people are acting. I struggle to pick up on social cues sometimes; my observational skills are not exactly ‘on point’. And I would do anything to avoid confrontation or arguments, sometimes saying what I think people would want to hear, as opposed to the truth.
Change also makes me feel very anxious. Routine is very important to me, and I like to know what's happening well in advance. If something is thrown at me with no warning I feel very out of control and need time to prepare myself, although I try hard not to let it show. I also have no spacial awareness, meaning I walk into things and am just generally incredibly clumsy. We have no way of knowing whether some of these things are purely because of my TS, or whether they’re actually just ‘me’. Everyone is different, regardless of whether they are diagnosed with a condition or not, and mine is just one story in thousands.
I am incredibly lucky to be involved with the Turner Syndrome Support Society. The support and friendship I've received from them is invaluable, and from the second I walked through the door of my first conference in October 2006, they have become my second family. I have lifelong friends who are more like sisters to me, and my experiences have hopefully allowed me to be a source of support for some.