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This isn’t something I ever planned to talk about online. However, 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 tell parents expecting a Turners baby, who are seeing nothing but horror stories online, that it is going to be okay.
I’m sure you have clicked this by now but yes … I have Turner Syndrome.
What is 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. This 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.
My experience with Turner Syndrome
There are some things I’m not fully comfortable talking about online yet, but I’m going to share some.
I was diagnosed a few days after my birth because I began displaying one of the most common signs. 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. I was quickly diagnosed with a coarcitation 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).
This resulted in an operation to the stretch the valve almost immediately and I’ve 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 changes, it will be spotted early and 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 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 aid growth spurts and because of that we don’t usually even reach 5ft. I had Growth hormone injections prescribed to me at 5 years old and I had those every day until age 15; I was 4ft 9.5 coming off them and 6 years later I stand at a proud 5ft. Turner babies often grow at a normal rate until age of 3 but their growth will slow down significantly; some people aren’t diagnosed up until this point because it might the be the first sign spotted. Some aren’t diagnose until their teenage years when other delays, caused by lack of hormones, start to become noticeable
Hormones are the things most greatly impacted by the disorder. We don’t produce enough of a few different ones … including estrogen. This basically means that we need a little help kick-starting puberty which is done through Hormone Replacement Therapy (HRT). I began taking HRT just before I came of my growth hormone and was then put on a low dose estrogen pill; the dosage was gradually increased up until I began my periods. I was prescribed a different medication after that but is a story for another time.
Bye for now …
I am going to end this post here because it is already quite long. There is so much to cover that I’m going to do a part 2 (and potentially a part 3). I’ve covered some of the physical elements in this post, but I fully intend to discuss the mental/ social aspects.
If you are reading this and had no experience with it … let me know if you have found this informative. If you are somebody who has Turners, please never hesitate to message me for advice or even just a chat.
