Quicklinks:
|
Great Writing - Home > Non-Fiction > Turner and me
| READING ROOM | ||||
|---|---|---|---|---|
|
| COMMUNITY | |||
|---|---|---|---|
|
| ABOUT GREAT WRITING | ||
|---|---|---|
|
| WORK AWAITING REVIEW |
|---|
|
| GW IS... |
|---|
|
Great Writing creative writing community is designed to prompt ideas
and provide inspiration and motivation within aspiring and amateur
authors. Whatever your topic; from love poetry to Doctor Who or Harry
Potter fan fiction, Great Writing's online writing group is where you
can make new friends and improve your creative writing. |
| WHO'S ONLINE |
|---|
| We have 1877 guests online and 6 members online |
Non-Fiction
| print friendly version | |
| Turner and me | |
| By emacskye | ||||||||
| 11 April 2007 | ||||||||
|
All the facts and information about Turner syndrome I checked against the turner syndrome U.K website and I hope it’s correct. I wanted to get my T.S story down on paper and I hope you find it informative. I’m away up to Skye on Friday and I hope to get inspiration to write about something other than myself. Turner and me Turner syndrome (T.S) occurs when one of the two X chromosomes normally found in females is completely or partially missing, and the prevalence is 1 in every 2000 live female births. T.S was first diagnosed by an American doctor called Henry Turner in 1938. He had noticed a pattern in some of his female patients, but the link with the X chromosome wasn't established until 1959. I was diagnosed at the age of seven, and I have a small scar on my arm from the skin biopsy they took to confirm the diagnosis. The form of T.S I have is referred to as mosaic turner syndrome, this is when the chromosomal abnormality is only found in some cells within the body. At the time of my diagnosis we were told that one third of my cells were affected. When my GP arrived at my folks to discuss the results, my mum was seven months pregnant with my sister. All he said was that I would be small, infertile, I would never achieve much at school and I would find it difficult to make friends. He made no reassurances to my mum that it wasn’t heredity, and understandably she worried for her unborn child and my future. My parents are very open, and they wanted me to understand my condition. I was a good reader, even at that age, and was allowed to read all the information they could find. They never flinched or blushed when I would ask difficult questions (like what are ovaries) at the dinner table. The main symptom I have is short stature, as I’m only 4’11”. I was given growth hormone injections from about a month after the diagnosis was made until I stopped growing at fourteen or fifteen. I always wonder if I hadn’t had the jags how tall would I be. I never got the courage to inject myself so my mum would do it for me, she was very strict on making sure I had my jag, but this was only an issue when I stayed the night at friends. Most weekends their was a sleep over, and I would always have to nip home or turn up late, my friends understood and never once gave me a dead leg after having my jag. The only time my height is a problem is when I’m shopping. I went into Boots once and they had put the tights for short arses on the highest hooks and the ones for tallies on the bottom. Petite ranges are getting better, but I still struggle on occasion to find fashionable clothes that fit me. The internet has helped my clothes shopping immensely, as the variety of clothes that fit is greater than in Inverness. Like I said earlier most of the women who suffer from T.S are infertile, I am one of the lucky ones (I had a son when I was nineteen) and this is due to the mosaic form I have. Women with T.S usually need hormone therapy to go through puberty and they respond well to IVF when attempting to have children. I was put on oestrogen for a short while but went through puberty spontaneously, I think I should have been told at this point I was not infertile but the doctors didn’t realise or didn’t want to give me false hope. I don’t know how long my fertility will last as the doctors think I will go through the menopause early, no sign of it yet but I hear the old clock ticking. One of the symptom that alerted doctors to the possibility that I might have T.S was a disfigurement with my toes. My fourth toe is a lot smaller than the ones beside it, so my pinkie toe gets squashed underneath it and I always feel my fourth toe rubbing on my shoes. As you can imagine, heels are unfortunately a big no no. I have tried heels of all kinds and the pain in my feet is worse than any hangover. My parents had terrible trouble feeding me as a baby due to my very high and narrow arch palate, I was nearly hospitalised due to loosing a lot of my birth weight. The health visitors tried my with all kinds of teats, but in the end I had to be spoon fed baby milk thickened with rusks from six weeks old. I wonder if that would still happen, or is there is a better selection of teats to try, or would breast feeding help. I don’t have any problems with my mouth now, but it was a big issue when I was a baby. My feeding problem on its own was not enough for doctors to suspect I had T.S, but it was a symptom that helped lead them to diagnose it. I have hearing problems, and was in and out of hospital as a child having grommets fitted and other operations on my ears. I have had so many middle ear infections that I have no ear drum left in my right ear and my left is badly scarred. I slipped through the net while moving from child to adult ENT services and stupidly done nothing about it for years. When I got my appointment the audiologist was very sympathetic, she told me my hearing test was not much worse than fifteen years previously and that I must have been suffering – it wasn’t me that had suffered it was my friends and family, they still repeat everything out of habit. Thyroid problems are very common in my family and are also very common in women with T.S, so it was no surprise when the doctor noted I had a goitre (swelling of the thyroid) and I am now on thyroxin. I didn’t realise how tired and depressed my under active thyroid had made me. I am religious about taking my pills and having my blood tested, as I don’t want to feel like I did before I started treatment. I struggle with my weight a bit because of my thyroid, and I think I look like an oompa loompa or maybe on a good day a cabbage patch kid – don’t worry I know that is just my opinion and it’s a bit jaded. The list of possible symptoms of turner syndrome is long, and everyone will have a different list of symptoms but this is how it has affected me. Being diagnosed with Turner syndrome made me curious about genetics, science and health in general and I now work in a lab assistant in a hospital after completing a HNC in health science. I have a small but loyal group of friends, who have jumped through hoops for me in the past and I have done the same for them. I think back at what the doctor told my mum and I look at my reality, the only thing he got right was my height.
Only registered users can rate and write comments. Powered by AkoComment 2.0! |
||||||||
 Previous item
|
Next item
|
|---|