This isn’t something I ever planned to talk about online but I have recently found myself becoming increasingly annoyed with the lack of awareness and the lack of information available on Turner Syndrome.
I’m not talking about factual information because there is a lot of medical information out there but there isn’t a lot that comes from first-hand experience. Parents and girls with Turners need somebody else going through it to talk to … a support network that isn’t purely medical. Somebody to let those parents expecting a Turners baby, who are probably seeing nothing but horror stories online, that it is going to be okay.
I’m sure you’ve probably clicked by now but yes, I have Turner Syndrome.
Most of you will have never heard of it before but it is a chromosomal disorder that affects 1 in 2000 girls. Turners occurs when one of the XX chromosomes is either completely or partially missing.
This is something that happens during conception and is not genetic which means it is something that could happen to anybody; so if you’re a parent expecting a Turner’s baby, you did absolutely nothing wrong and it is nobody’s fault.
I don’t want to go too in-depth about all of the symptoms and treatments because not all Turners patients will experience them all, or different treatments will affect them in completely different ways. I know that I have not experienced all the symptoms, and so I obviously can’t begin to understand how the symptoms I’ve not experienced affect those who have.
However, I do want to talk a little bit about my personal experience with it to give anybody a little bit of insight. There are still some things that I have experienced that I am not fully comfortable talking about online just yet because they are quite personal.
So, I was diagnosed just a couple of days after my birth because one of the most common signs started to rear its head. It became obvious that I had a heart defect; my bottom half was a purpley blue colour which made it clear there were some circulation issues going on. The doctors quickly discovered that I had a coarctation of the aorta (the aortic valve was narrow), a bicuspid valve (you’re supposed to have 3 valves … I have 2) and a murmur (irregular heartbeat).
I had an operation to the stretch the valve almost immediately and I have had absolutely no issues with it ever since; the bicuspid valve and murmur was not something that required any surgery because they don’t have any serious impacts. I visit a cardiologist every 2 years to make sure that my heart is still doing well, and I have had nothing but good feedback every time I have gone; if anything was to occur it would be spotted early and promptly corrected.
Some Turners patients will require no heart surgery but others may require 4/5. The important thing to remember is that if they do, we have absolutely fantastic surgeons around today and medical experts have such an in-depth understanding of the heart. The surgery is there to fix the problem and while they are scary … they’re going to help.
Due to hormonal impacts of the disorder … we are short. We don’t produce enough growth hormone to give us big growth spurts and because of that, even with medical aid, we don’t usually even reach the 5ft mark. I was put on growth hormone injections at just 5 years old and I had those every single day up until age 15; I was 4ft 9.5 coming off them and 6 years later I stand at a proud 4ft 11.
Turner babies often grow at a normal rate until the age of 3 but then their growth will start to slow down significantly … some people aren’t diagnosed up until this point because it might the be the first sign spotted. Some aren’t diagnosed up until their teenage years when the other delays that are caused by hormones start to become noticeable.
Hormones are the things most greatly impacted by the disorder and we don’t produce enough of a few different ones … including estrogen. What this basically means is that we need a little help kick-starting puberty and this is done through Hormone Replacement Therapy (HRT). I began HRT just before I came of my growth hormone and was put on a low dose estrogen pill; the dosage was gradually increased up until I began my periods. I was put on a different medication after that which is a story for another time because I have been on a bit of a complicated journey with it.
I am going to end this post here because it is already quite long and there is so much to cover that I’m going to do a part 2 (and potentially a part 3). I’ve covered just a small portion of the physical elements in this post but I fully intend to discuss the mental and social aspects of it.
Once I’ve given the initial explanation of the disorder, I’m going to begin a series that will cover everything from what a parent of a Turner’s child can do to support them and advice for those with the disorder.
If you are somebody reading this who had no experience with it … let me know if you have found this informative and if you are somebody who has Turners, please never hesitate to message me on my socials for advice or even just a general chat.