Before anyone reads any further I would just like to say that in no way do I write this to gain sympathy, there are people that have life way worse who are deserving of sympathy and while it's nice to know people care, I really don't need it, I've had my time and I'm slowly coming to grips with everything. I've been in 2 minds as to whether I should post this at all, I hate when people put their entire lives everywhere for people to see because personally, I don't need everybody else to care as I have all the people I could possibly need. I'm purely intending to raise a little bit of awareness.
Here goes...
Growing up, I'd always been a bit behind the rest in the growth department, you could say a head and shoulders behind.. badum chhh! Until late last year, I'd never had a factual explanation as to why I was short, I used to think it was because I'd been premature or because I have Italian genes on my biological dads side neither were right of course. Another thing that was odd was that I hadn't started my period at all. When all of my friends had and I hadn't I demanded to go to the doctors which my mum refused because (and quite rightly so) I was only 14 and there was still plenty of time, then when I was nearly 16 I went to the doctors to see if they had any answers but they just told me to return when was 16. I naively thought things would start on their own which they didn't so when I was 17 I went back and had some blood tests and was sent off for an ultrasound which I didn't follow up because I was terrified at the thought of having a physical examination so I just left it. Last year in march time, after a lot of nagging from my mum, I went back to the doctors and was sent back to the hospital for more blood tests and the physical examination I was so terrified about which if anything was just mortifying and had been nothing to worry about what so ever! I then had another blood test which was sent off for karyotyping to look at my chromosomes and whatnot.
Finally after all of my procrastination, in September, I was diagnosed with Turners Syndrome which is a genetic defect that happens to around 1 in every 2,000 women, there's no known cause and the best was to describe it is like a little hiccup as my genes were forming. There are two types Classic, where an x chromosome is damaged or missing in every cell and Mosaic where the chromosome is missing or damaged in every other cell, I have mosaic which I believe means my case isn't so bad which I imagine is why it took so long to be known as I've only suffered with some of the symptoms and the rest I'll be tested on in the next couple of months. I still don't know the ins and outs too well as I've only had one hospital appointment since my diagnosis however this is what I know up to now. According to the mayo clinic website, these are the known screening stages/symptoms of Turner Syndrome:
Before birth
Here goes...
Growing up, I'd always been a bit behind the rest in the growth department, you could say a head and shoulders behind.. badum chhh! Until late last year, I'd never had a factual explanation as to why I was short, I used to think it was because I'd been premature or because I have Italian genes on my biological dads side neither were right of course. Another thing that was odd was that I hadn't started my period at all. When all of my friends had and I hadn't I demanded to go to the doctors which my mum refused because (and quite rightly so) I was only 14 and there was still plenty of time, then when I was nearly 16 I went to the doctors to see if they had any answers but they just told me to return when was 16. I naively thought things would start on their own which they didn't so when I was 17 I went back and had some blood tests and was sent off for an ultrasound which I didn't follow up because I was terrified at the thought of having a physical examination so I just left it. Last year in march time, after a lot of nagging from my mum, I went back to the doctors and was sent back to the hospital for more blood tests and the physical examination I was so terrified about which if anything was just mortifying and had been nothing to worry about what so ever! I then had another blood test which was sent off for karyotyping to look at my chromosomes and whatnot.
Finally after all of my procrastination, in September, I was diagnosed with Turners Syndrome which is a genetic defect that happens to around 1 in every 2,000 women, there's no known cause and the best was to describe it is like a little hiccup as my genes were forming. There are two types Classic, where an x chromosome is damaged or missing in every cell and Mosaic where the chromosome is missing or damaged in every other cell, I have mosaic which I believe means my case isn't so bad which I imagine is why it took so long to be known as I've only suffered with some of the symptoms and the rest I'll be tested on in the next couple of months. I still don't know the ins and outs too well as I've only had one hospital appointment since my diagnosis however this is what I know up to now. According to the mayo clinic website, these are the known screening stages/symptoms of Turner Syndrome:
Before birth
- Large fluid collection on the back of the neck or other abnormal fluid collections
- Heart abnormalities
- Abnormal kidneys
- Wide or web like neck
- Receding or small lower jaw
- HHigh, narrow roof of the mouth (palate)
- Low-set ears
- Low hairline at the back of the head
- Broad chest
- Short fingers and toes
- Arms that turn outward at the elbows
- Fingernails and toenails that are narrow and turned upward
- Swelling of the hands and feet, especially at birth
- Slightly smaller than average height at birth
- Delayed growth
- No growth spurts at expected times in childhood
- Short stature, with an adult height of about 8 inches (20 centimeters) less than might be expected for a female member of her family
- Learning disabilities, particularly with learning that involves spatial concepts or math, though intelligence is usually normal
- Difficulty in social situations, such as problems understanding other people's emotions or reactions
- Failure to begin sexual changes expected during puberty — due to ovarian failure that may have occurred by birth or gradually during childhood, adolescence or young adulthood
- Sexual development that "stalls" during teenage years
- Early end to menstrual cycles not due to pregnancy
- For most women with Turner syndrome, inability to conceive a child without fertility treatment
I don't believe this list is exhaustive but this is what is known so far. Of course as I've explained, I've only ever suffered with my height and the fact I've not had a period (supposedly, I have a webbed neck too but I think the nurse was chatting rubbish quite frankly) and I'll be screened for any of the others such as heart and liver function in the coming months. Oh and as my height goes, can we just discuss the fact that I am taller than the average girl with turners... that's right I, hayley louisa elliott, who is 4"11... am TALL for a girl with turners syndrome without growth hormone therapy!
When I first read the letter I got in the post, I cried my eyes out, I think I cried for a good hour. I've always thought about my future and it always included me being a mum and although it isn't out of the question, it's going to be so complicated, while spontaneous pregnancy is more likely in mosaic turners syndrome, it's not 100% and there would still be a lot of risk factors as well as the chance of not carrying to term. I just hope that the man I end up with will have the patience of a saint cause he'll need it just to handle me, never mind when it comes to starting a family with me.
I think the biggest thing to come out of the diagnosis was the relief I felt, just to have an answer! While it wasn't the one I'd hoped for, I'm happy to know what's been going on. Because it's genetic, there is no cure just a treatment. I'll go through Hormone replacement therapy which will supply me with the hormones I've been missing and I think I'll go for various checkups to make sure everything is as it should be and to make sure that I've not developed any of the symptoms above.
I would just like to thank the people who have known as long as I have and have been supportive throughout, you know who you are and you've been my absolute rocks! I don't think I'd have handled this as well as I have up to now without having such amazing people around me. Also, if I didn't tell you personally but could've (if you're family or friends) please don't take it personally if this is how you're now finding out, I wanted as few people as possible to know until I knew enough and had been able to process everything because there's nothing worse than people asking questions about things when you don't have a clue.
I'd like to round this up Aesops Fable style with a few morals to learn from my post.
1. Always be your own advocate, if you feel something is wrong with yourself, push to find out, until you know for certain, don't always take a doctors word for gospel.
2. do not procrastinate when it comes to your health, while I was hindered by doctors at first, I should've gone back when I was meant to, things would've been a lot easier I'm sure.
I've thought about posting this for a while and I decided that now would be a great time as it is actually turners syndrome awareness month, if you do want to know more have a look at:
1. Always be your own advocate, if you feel something is wrong with yourself, push to find out, until you know for certain, don't always take a doctors word for gospel.
2. do not procrastinate when it comes to your health, while I was hindered by doctors at first, I should've gone back when I was meant to, things would've been a lot easier I'm sure.
I've thought about posting this for a while and I decided that now would be a great time as it is actually turners syndrome awareness month, if you do want to know more have a look at:
I'm sure these websites will offer a lot more comprehensive information than I could right now but hopefully I will know a lot more about myself what everything means for me as time goes on! In the meantime, rest assured that I am happy, healthy and still the exact same Hayley that I've always been, I still laugh and talk way too much, I still make terrible jokes and I still love a good tipple (or topple.. am I right though.. I'm right!) basically, I'm like a cocktail you've always loved just with an ingredient you didn't know was in it... is that a good analogy? :')
thanks again,
thanks again,
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