Guest blog – My life with Turner’s Syndrome – Sam’s story.

This guest blog appeared on my Facebook page on 9th January 2014. It was written by Sam, who has been a personal friend of mine for 9 years. This was the first time that she had ever sat down and written her story, she’s not a blogger, or a page admin. I have always known that Sam was diagnosed with Turners Syndrome, but until she wrote this piece I had no idea of just how much it had affected her, physically and emotionally, throughout her life. Her eloquence, honesty and insight blew me away. Sam said that this piece just wrote itself and came straight from the heart.
I am posting the piece again here, because it was becoming swamped in amongst all the other posts on my Facebook timeline, and I wanted to make it easier for people to find ~ Liz~

*****

My life with Turner’s Syndrome

I don’t have many memories of being diagnosed with Turner’s Syndrome. I remember I was around 4 years old and having to go into hospital for tests, having lots of blood taken, which involved me having my arm splinted out to the side of me like an aeroplane wing whilst they extracted what seemed like endless amounts of blood. All very scary when you are that age.
I then remember my Mom sitting me down and saying that I was special and that my body wasn’t growing properly like other little boys and girls and because of that I was going to have to have special medicine every day to help me grow. That sounded fine – until I realised that involved having a needle every day. I have a distinct memory of that realisation – a nurse came with a rabbit teddy bear and an empty syringe to show my parents how to inject me. I can see my mom injecting that rabbit now and the realisation that very soon I would be meeting a similar fate. I can remember the ensuing meltdown vividly. Of course I was too young to properly understand the necessity of those hated injections I just knew I didn’t want them. End of!

It wasn’t until I was older that I began to have an understanding about those two little words that had such a huge impact on my life. Turner’s Syndrome. I began to understand that it is a chromosomal disorder which only affects women. Where most women will be born with XX chromosomes (the chromosomes that determine sex, with men being XY chromosomes) women with Turner’s have either part or all of the second X missing. There are two types of Turner’s Syndrome – Classic and Mosiac. Women with classic Turner’s have the second X chromosome fully or partially missing in every cell and women with mosaic Turner’s only have the second x chromosome fully or partially missing in some cells. Turner’s Syndrome affects growth, hearing, heart, kidneys, liver and thyroid, of which I will go into more detail later. That’s just a very brief outline of the ‘mechanics’ of Turner’s. I could write a whole novel on the subject but I wanted to focus on the emotional and physical impacts the condition has had on me. The Turner’s Syndrome Support Society UK are a fountain of knowledge and an excellent source of information about Turner’s Syndrome and the genetics of the condition.

I should probably go back to the beginning and the reasons why I found myself having a barrage of different tests at such a young age. My mom noticed early on that I was small for my age and she became increasingly worried when my brother, who is 18 months younger than me, began to outgrow me. After much nagging the GP referred me to the Endocrinologist at the Children’s Hospital in Birmingham and I was given the diagnosis. As I mentioned earlier one of the main elements of Turner’s Syndrome is the inability of the body to produce growth hormone. Therefore most girls with Turner’s will have injections of synthetic growth hormone. I had this for a number of years until I was around 16 years old. I was injected with growth hormone every night and managed to reach the dizzying heights of just under 5’2 which is quite good for a woman with Turner’s. In a family where the shortest person was 5’8 I was always acutely aware of the difference between us and what could have been if things had been different. Even now as I have to drag out a chair to stand on to reach the top of our kitchen cupboards I can’t help but wonder as to what would have been, however I am the height I am and that’s just fine with me! My husband always tells me that if I was any taller I wouldn’t be so cute and it’s hard to argue with that. If it wasn’t for the fact that I wasn’t growing properly I might not have been diagnosed until much later in life as I have been blessed not to have many of the external characteristics of Turner’s such as the webbing on the neck and swollen hands and feet or droopy eyelids. If you looked closely you may notice that I have a slightly lower than average hairline, ‘upturning’ nails and a high number of moles that are clues to my Turner’s. Of these the low hairline bothers me the most as I would love to wear my hair up more often but I am self-conscious about it so I generally don’t.

I was also very fortunate to not have the heart problems associated with Turner’s – namely with the aorta, which I know affects a lot of my Turner’s sisters. I have a yearly ECG to be certain but apart from that my heart is healthy. Another physical characteristic of Turner’s is horse-shoe shaped kidneys and so far mine seem to functioning normally but again this is part of my yearly health-check.
A lot of girls with Turner’s also suffer from hearing loss. This is definitely something I can relate to! Growing up I constantly had glue ear and had numerous operations to have grommets fitted to help me hear through my blocked ears. I remember having to often sit at the front of class at school in order to hear the teacher and I became quite adept at lip reading. Even now my hearing isn’t great. I am under the care of the ENT team at the hospital following a further operation on my ears 3 years ago and my hearing is below average so I have had to come to terms with the fact that I may well need hearing aids in the future – not an easy thing to do when you don’t have a huge amount of confidence in your appearance anyway, but when it comes down to it my desire to hear wins out against any vanity.

Probably the cruellest characteristic and certainly the one that has had the biggest impact on me emotionally is that women with Turner’s are usually infertile. (Although some women with mosaic Turner’s have been known to conceive naturally) This is because most women with Turner’s are born without ovaries or very little ovarian tissue. Personally I have no ovarian tissue. I have known from a young age that I wouldn’t be able to conceive a child without IVF. My mom took great pains to ensure I thought of it terms of not being able to conceive a child, rather than I can’t have children, as there are many ways you can be a parent. This has helped me to be open to adoption and fostering as well as IVF; as no matter how I am blessed with a child I know I will be a mommy one day. Don’t get me wrong it still hurts when I see more and more of my friends and peers going on to have their children and I am left further and further behind. Of course I am happy for them but I would be a liar if I said I wasn’t also green with envy. My husband and I would dearly love to have a child and we are waiting to be matched with an egg donor in order to have IVF. We have been waiting 2 ¼ years for our donor now and if it isn’t successful first time, then there is the very real possibility, if we want to try again, that we will have to go back to the bottom of the list and wait all over again, or find the money to go abroad for treatment. If there is one thing that makes me wish I hadn’t been born with Turner’s it’s this. I am close to 33 now and if we have to have another cycle (and I am realistic enough to know that the odds of it working first time are against us) then I could be close to 36/37 when we get our next go. Which I know doesn’t seem particularly old but when you are desperate for a family every year feels like an eternity and the ticking of the biological clock is deafening.

However I realise that I am lucky that this is even an option for me at all. A lot of Turner’s women are not able to have IVF due to their heart problems as they have been medically advised that their heart would not withstand pregnancy, or they live in an area where NHS fertility treatment is not an option for them and they simply don’t have the financial means to pay for expensive IVF treatment. I am extremely blessed that I have been medically ‘cleared’ for pregnancy and that where we live my husband and I will be entitled to two cycles of IVF treatment paid for on the NHS. As well as being infertile the lack of ovaries means that my body does not produce any oestrogen naturally, which is imperative in women for going through puberty and, later on, the menstrual cycle. When I was taken off the growth hormone I was then put on HRT (Hormone Replacement Therapy) which enabled me to go through puberty and I am still on it today and will continue to take HRT until I come to the age where I would naturally go through the menopause. The HRT means that I have a regular period, it helps keep my womb healthy (great for the impending IVF) and also helps prevent osteoporosis so I am a great advocate of it, despite the scaremongering of links between HRT and cancer.

Another characteristic of Turner’s Syndrome is poor spatial awareness. Most people who know and love me know that I am clumsy and that I tend to bump into things a lot! It can also make driving interesting! I struggled learning to drive and took three attempts to pass my test. However I have gone on to become a confident (and dare I say it) good driver with over 10 years no claim bonus of which I am quite proud. For me to have been driving for over 10 years without having an accident is something of an achievement, especially as even now at my age I still struggle to even tie shoelaces! I also tire easily which (although not proven) I believe is also linked to Turner’s as poor Thyroid function is common amongst Turner’s women. This can be extremely frustrating as I love being on the go and to not be as active as I would like due to poor energy levels is not something that sits well with me. However I find I can survive the days with copious amounts of tea and surreptitious ‘cat naps’ here and there.

I couldn’t not also briefly touch on the link between Turner’s and Autism. A higher proportion of TS girls are diagnosed with autism compared to the general female population, and some Turner’s girls have difficulty with recognising emotions, with managing anxiety and in understanding social relationships. The exact reasons for this remain the subject of research. I have never been screened for autism, and I’m not claiming to be autistic, or that Autism and Turner’s are synonymous with each other. Yet I cannot help but feel that there is a certain amount of truth in it, especially where I am concerned. The more I come to understand about autism from a dear friend of mine, I can see the characteristics similar to those of Autism that I have, just there, lurking underneath the surface.
I am quite introverted until I am comfortable with people, I don’t like eye contact or people being ‘in my space’, I struggle with emotion and sometimes, especially when I am tired an overwrought I don’t recognise changes in people’s faces or emotional reactions. Not many people know this but I also stym, especially when alone. I have a little humming noise I make without even being aware of it and sometimes I will come out with a word or piece of a sentence I was thinking of. Routine is extremely important to me and I don’t deal well with any changes to my routine or plans that I have made. For example on boxing day my sister-in-law was having a few people over but was apparently kicking everyone out by 7pm due to having to be in work at stupid o’clock the following morning. I was only able to for the last hour and when I got there everyone was drunk and the party was in full swing. I ended up staying until gone 11pm but it required a huge effort and I didn’t enjoy myself and the only reason I stayed was because I didn’t want to seem boring. All I did was worry and stress about the plans I had made for myself the evening that hadn’t come into fruition, even though my plans only included a TV programme I really wanted to watch and sorting out my Christmas gifts. I struggled to deal with the fact that, this wasn’t what I was doing. I also love anything that is sensory, whether it’s scented candles, fluffy blankets or the taste of food. Anything that I can touch, feel smell, taste or engage with on a sensory level. Like I said I am in no way claiming to be autistic, but I can from my own personal experience see certain similarities, even if they are only small.

I hope I haven’t made my life out to be all doom and gloom when it isn’t. I count myself very lucky to be here at all as a sad fact of Turner’s Syndrome is that only 1 in every 2500 Turner’s pregnancies makes it to full term. I have a lot of good things in my life. I am happily married to a wonderful man who I thank God for every day. I was lucky enough to go to University and have a job I enjoy. I have a home, enough money to keep me fed and clothed and a fantastic group of family and friends both in and out of the Turner’s Syndrome community. Although Turner’s Syndrome has presented my life with challenges, it has not held me back. I remember a friend of mine (who amazingly is still a friend) saying that I couldn’t be a ‘proper woman’ as I was missing part of my sex chromosomes. I simply told her that missing part of my sex chromosomes did not make me any less of a woman, and it’s a mantra that I live by today.

~Sam~

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5 thoughts on “Guest blog – My life with Turner’s Syndrome – Sam’s story.

  1. For Sam x
    Hi, my name is Laura and I also have Turner’s Syndrome. I just wanted to thank you for putting your story out there, It’s something I’m thinking about doing myself and would love to see more women with TS doing. I find it shocking that even though TS isn’t that rare, hardly anyone has heard of it, it took me until I was 13 to be diagnosed and I have heard other stories of women who haven’t been diagnosed until adulthood, as I’m sure you will have. Like you I don’t have many of the physical characteristics of TS, no webbed neck or anything, just short stature (5’0), a fair few moles (One surgeon offered to remove these for me but I feel like they’re part of me now) low hair line also and low set ears. I was also very lucky to not have any of the serious internal problems either, I’m actually very healthy, normal heart, normal kidneys, like yourself and most of the TS community I am unable to conceive, your comments about the emotional effects of this struck home with me, I also struggled with the ideas of being feminine or a ‘real woman’ when you have Turners (as you know its not an easy feat when you have no Ovaries, no breasts and are losing your hair due to Thyroid problems) It was something that I had to make my peace with in my teenage years.
    I am currently learning to drive and the special awareness problems are really coming to the forefront lol, I haven’t had a prang yet though so I counting that as a plus!
    I wish you all the luck in the world with the IVF and hope it all works out for you and your partner.
    Thank you again for telling your story and showing how awesome TS women are! We are strong, intelligent women who don’t stop being so because we don’t have Ovaries, I too have wondered who I would be if not for TS, probably not the person I am now and why would I want that? 😉
    All the best.
    Laura x

    • Hi Laura,
      I have only just seen your comment but thank you so much – this is why I did it – to reach out to other girls with TS to show that we are so much more than our condition as well as raise some awareness with those who may not have heard of it before.
      Xx

  2. Hi Sam,

    I also have Turner’s syndrome, my partner and I are fairly certain about putting our name down for IVF using egg donation at the end of this summer. I would REALLY REALLY love to talk to you about your experience I realise this post was a LONG time ago but if for any reason you check this and are willing to be in contact please email me. jenniplumb@live.com. I am not in touch with any other women with TS and desperately want to change that ¨!

    thanks,

    Jenni

  3. Hello my name is Jolene and I have Mosaic Turner Syndrome. All I can remember is when I was younger always going to the doctors and having blood taken and having ear infections and my parents holding me back because I was so short it scared them. When I turned 9 years old we moved to California and on the way there I cried because my ears hurt so bad that I kept crying myself to sleep, when we finally made it my parents felt so bad that instead of going to our new place they took us to the beach. I do remember my parents looking at the news paper and reading something about Turner Syndrome so we drove to Stanford University and had 8 doctors looking at me while I was half naked, I had know clue what was going on but after that point nothing else was done. As I got older I finally started going back to the doctors and was put on estrogen and hormone replacements it lasted a month after that point I was going back and forth between Arizonia and California, When I turned 18 years old I finally had my first and last period all I remember was being so scared because I had know clue why my stomach was cramping and hurting so bad and at that time I was living with my grandmother who really couldn’t do anything, so I called my aunt because my parents lived in California and didn’t have any way of getting a hold of them. As I got older I started slowly going through things like kidney problems, liver problems, diabetes problems in the past two years I’ve been dealing with seizures and stomach problems with all this I feel if my parents had cared more I wouldn’t be at the point of now being 40 years old and having to be watched over because I have so many complications. So I hope this will let parents know when there is something going on like Turner syndrome please don’t take it for granted please have your child medically checked out and do everything to make sure they don’t go through what I’m going through…Thank You Jolene

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