Turner syndrome is one of the most common chromosome anomalies in humans and represents an important cause of short stature and ovarian insufficiency in females. It is caused by loss of part or all of an X chromosome. The clinical manifestations and diagnosis of Turner syndrome will be reviewed below. Welcome to the TURNER+SYNDROME Group! This group is SPECIFICALLY for members who identify with the group theme 'TURNER+SYNDROME'.If you are a member of Short Passions and you are logged in, please upvote & downvote the members listed. Our system is built to keep the Groups area focused solely on the appropriate members & your votes help!
Tags A Personal Story: My life with Turner Syndrome At 28, Turner Syndrome continues to dominate my life and now the time is right to step out from the invisible wall I seem to have built around myself.
By Triona Keane Monday 29 Sep , 7: But enough is enough. At 28, Turner Syndrome continues to dominate my life and now the time is right to step out from the invisible wall I seem to have built around myself and reveal my true identity. In the past number of years I have become increasingly frustrated by the lack of knowledge and awareness surrounding Turner Syndrome TS both in the public domain and, in some respects, the health domain as well.
Thus, this article is borne out of a need to educate the public and raise awareness of the everyday intricacies of living with TS. The following article charts not only my personal medical complications but also the psychosocial difficulties experienced as an adult living with TS. In short, the kind of story that would have benefited me enormously when I stood on the brink of adulthood, completely unaware of the challenges that I would face and was totally unprepared for when the onslaught came.
And so, it is with this in mind that I decided to forfeit my anonymity and go public with my story. My story At four months old, I was diagnosed with a condition called Turner Syndrome.
TS is a chromosomal abnormality occurring in approximately one in every 2, live female births. Not common enough to front lots of research campaigns but not rare enough to bring about some nosy inquisition, it is a little known condition.
Most TS sufferers also develop an underactive thyroid gland, a heart murmur and recurrent ear infections. At the time of my diagnosis in , information was sparse. It was a bleak time for my parents who were presented with this little known condition with an uncertain prognosis. I spent much of my first year teetering on the precipice between life and death. Born a tiny 5lbs 2oz, I failed to thrive.
Spending three months in Crumlin hospital as a fragile baby, doctors and nurses fought to build me into a healthy blossoming baby. I was so weak and fragile, just a hospital cold would have had devastating repercussions.
It took me a solid 12 months to make a complete recovery. Over the next two years, life reverted to normal with the exception of some developmental delays such as speech and taking my first steps.
At two-and-a-half, I underwent open heart surgery to broaden the aorta, the main artery through which blood leaves the heart. At five years old, I commenced daily growth hormone injections in an effort to boost my eventual adult height.
Around this time, I was also referred to an Ear, Nose and Throat specialist for treatment. Turner girls are often born with waxy ears making them highly susceptible to recurrent ear infections and I was no exception.
Countless grommet insertions followed on a yearly basis. Constant hospital appointments gave me regular happy days away from school and usually a lollipop followed a visit to the doctor which always went down a treat now I know where I developed my sweet tooth. Blurred vision and headaches I continued with my growth hormone injections until I was about ten, when another medical problem arose.
I began to experience frequent headaches and occasional blurred vision. At a routine eye appointment, doctors became concerned about cerebro-spinal fluid pressing on my optic nerve and I was admitted as a matter of urgency for CT scans, visual fields tests, photos of the back of my eyes and a dye test.
I was ordered to cease all growth hormone injections immediately as doctors believed a link existed between the two. This was a devastating blow. If a TS girl is fortunate enough to receive an early diagnosis, like me, growth hormone injections would ordinarily be continued until twelve or 13 years of age. By ceasing all treatment at just ten, I was missing out on a valuable three years of injections which would have serious implications for my final adult height.
Some months later I was admitted to hospital for surgery that promised to relieve the swelling pressing on my optic nerve. The operation was a success and my growth hormone injections were now a distant memory.
At 13, I commenced my first dose of medication that would promise the induction of puberty; finally I could begin the process of feeling like a normal teenager. It was around this time that I was diagnosed with an underactive thyroid gland and so I cast Eltroxin tablets into the mix as well. The next few years were spent juggling a concoction of different medications and different doses before arriving at a happy compilation.
After a few years of inducing oestrogen and progesterone to bring about puberty, I eventually progressed to the pill for hormone replacement. The news was bleak Meanwhile, my ears were growing increasingly aggravated and after suffering a perforation in each eardrum, my hearing loss had become quite profound in places.
At 17 I was given a new lease of life with my first set of hearing aids and I was over the moon! All of a sudden a whole new world opened up to me affording me a better quality of life. But I continued to suffer from recurrent ear infections and my ENT specialist eventually decided to repair the right eardrum. Straight after my Leaving Cert, I was admitted to hospital for the op.
I spent six hours in surgery and the news was bleak. They had found that one of the crucial bones in the middle ear, the hammer, had rotted away and made its way into the inner ear. If it had been left there, it could eventually have travelled as far as the brain, infecting the membranes. As impossible as it may have seemed, my ears were in an even worse state than initially predicted.
That summer was spent travelling between home and outpatients for dressing changes to the operated ear which were frequent and uncomfortable. To add fuel to the fire, I had to rely on just the one hearing aid while my right ear healed when, really, I needed the two. How do I explain the effect on my life? One evening, over drinks in a local pub, a close friend asked me how TS affects me and to my astonishment, I found it difficult to give a clear and concise response.
First, there is the fact that I look about half my age, stemming from a combination of both my short stature and, I hope, good genetics. This has enormous social implications. To this day, I still get mistaken for someone who is under Only two years ago, I was at a Turner Syndrome conference in a Manchester hotel. Needless to say, bar staff and management received a serious education on Turners Syndrome that night. Over the years, people have treated me differently as well because they believed I was much younger than my years.
Fertility Second on the list of concerns is the matter of infertility. In TS women, the ovaries do not develop, meaning absolute certain infertility. I consider myself fortunate on this front as my maternal instincts have never reached stratospheric heights anyway. I have never really harboured any great desire to have children of my own, never had this grand plan. From an early age, my parents raised me with the knowledge that I would never have children of my own and so I have never known any different.
I realise that this may become problematic if I ever do meet a partner and he desires children but, for now, I have accepted my fate. In the last few years, some friends of mine have had children of their own and, of course, it does hit me like a tidal wave from time to time that this is a life I will never lead, but I have learned to make my peace with that.
There are alternative options available to me in the form of IVF and adoption but both are emotionally draining, costly and lengthy processes. To add to that, pregnancy carries serious risk of medical complications, in particular high blood pressure and TS women are in fact advised to avoid this option, and is therefore not an avenue I would ever wish to explore. Of all the trials and tribulations that come with a life living with TS, personally, I have found my social inadequacies the most difficult to accept.
TS women suffer from crippling self-esteem issues largely arising from short stature and a feminine inferiority. This has a profound impact on social skills and ability to make and maintain new friends. Couple that with significant hearing impairment, a lack of spontaneity and a short attention span — all elements of the syndrome. Making conversation, engaging with people in a really meaningful way is something I find extremely difficult.
One of the most notable social inadequacies in TS women is a distinct inability to read and interpret a situation, stemming from poor observation. Socially, this comes with many disadvantages. I know I personally have completely misinterpreted a situation or completely misinterpreted something someone said on countless occasions. And unfortunately that does lead to some inevitable hairy moments. It makes simple everyday tasks particularly challenging. These might all be characteristic of your average person, but they are certainly more pronounced in TS women.
They were forced to learn to cope on their own. A family perspective on TS is essential. My journey to adulthood After leaving school, I studied General Nursing in Cork and I was convinced it was the career for me. I made some lifelong friends throughout this programme and I spent four happy years working hard pursuing a career I loved. Unfortunately life intervened: I fell down on the clinical practice element of the programme on issues such as problem solving, critical analysis and thinking on the spot.
Common problems for people with TS. After repeating the clinical practice component of the final year, it was time to hang up my nursing dreams. This was by far the lowest point in my life. Had it not affected me enough with all the medical complications, the lack of friends, the lack of feeling normal? I was sick of it seeping into every aspect of my life — socially, medically, academically, practically. I vividly remember breaking down one morning shortly afterwards while attending mass with my parents.
It was like I was only fully processing everything that had happened to me over the past few months that morning, with that song. Everything hit me at once.
How had I ended up in this mess? How had my life fallen to pieces so fast? As a child I was always the studious one, I had always imagined myself following a blossoming career, not sitting idle at 24 wondering what I was going to do with the rest of my life! I felt compelled to help others It was only afterwards I learned that many TS women pursued a career in nursing but fell short on the clinical front.
Spurned on by this knowledge, I felt compelled to help other TS women and prepare them for the exceptionally difficult transition into adulthood.
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