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DECIDING TO PUT pen to paper and provide an honest and frank account of my personal story was no easy task. Some revelations over the coming paragraphs I haven’t even confided in my closest friends. 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.
Let’s not forget, however, that the purpose of this article is twofold. 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 2,500 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. While short stature and infertility are the most prominent features, several other health and psychosocial implications interact to affect the sufferers’ quality of life. Most TS sufferers also develop an underactive thyroid gland, a heart murmur and recurrent ear infections. At the time of my diagnosis in 1986, 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. Even in my youth and innocence, I was acutely aware of this and I fought my hardest against this decision but eventually I was forced to succumb to the doctors’ orders.
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. Attending the pharmacy for antibiotics, the pharmacists’ attempts to explain that antibiotics interfered with the effectiveness of the pill always provided an excellent source of amusement. I usually just smiled and replied that I wasn’t on the pill for contraceptive purposes; it was 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. While my hearing was by no means perfect, I could now converse considerably well without overuse of the word “pardon”, a phrase I had become all too familiar with over the years. 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. The hammer had to be removed and doctors anticipated a poorer hearing profile; not the best greeting to receive at eight o’clock in the morning when you’re recovering from major surgery. 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. On the surface, I’m just a regular 28-year-old woman, however, as the layers are peeled away a very different picture comes to light.
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 18. Only two years ago, I was at a Turner Syndrome conference in a Manchester hotel. One evening, a group of us young TS adults (all over 18) were enjoying a few drinks from the hotel bar when the manager arrived on the scene and told the bar staff to exert caution selling alcoholic beverages to all of us “under-agers”. 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. Up until a short few years ago, I still received the question “So what year are you in at school?”. I just know I’ll reap the rewards in years to come and be the envy of all my friends who have to spend a fortune on age-defying products while I simply continue with my regular skin care routine.
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.
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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.
People mistake me for being ridiculously quiet, shy and naive when the reality couldn’t be further from the truth. Over time, as people do eventually get to know me I’m labelled a “dark horse” when I was never quiet to begin with, I just involuntarily expressed myself in that way.
One of the most notable social inadequacies in TS women is a distinct inability to read and interpret a situation, stemming from poor observation. My observation definitely couldn’t be described as ‘sharp’ and it often means that I don’t catch on to the finer details. 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. If it’s one skill I have learned and perfected over time, however, it is the ability to laugh at myself and not take life too seriously.
Spatial awareness is another problem with TS sufferers – and it’s a rather difficult concept to explain but is something that is very debilitating. It makes simple everyday tasks particularly challenging. Personally, I have no sense of direction, I struggled to learn to drive, only learning after my parents borrowed half the bank to pay for lessons and anyone who knows me will tell you that I’m clumsy to boot. These might all be characteristic of your average person, but they are certainly more pronounced in TS women.
Effects on the family
I decided at the outset that I couldn’t write this piece without reference to the effects of TS on the family dynamic. Growing up flanked by two older brothers, I’m sure the level of attention I was receiving from my parents had significant implications for them. While I had to adjust to a life with TS, I had the support of my parents and medical staff around me, my brothers didn’t have access to any of that. They were forced to learn to cope on their own. My eldest brother in particular being five years my senior, I’m sure, would have vivid recollections of a very sick baby in a busy hospital environment.
Subconsciously, I’m sure my parents did loosen the reigns considerably more with me in comparison to my brothers as well; I was already the youngest and the only girl, I didn’t need another reason to be spoiled. 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. I couldn’t believe that TS had reared its ugly head again attempting to destroy everything I had worked so hard for. 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. The local choir sang a fabulous rendition of “Seek ye first” but all of a sudden I was overcome with a rush of tears. 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. Currently, I am working towards establishing a friendship group here in Ireland, where TS women can get together, develop strong friendships and share their experiences. Many TS women feel so alone in their fight against their short-comings, often all it takes is to meet with others in a similar position to counteract those feelings of isolation.
I am also highly passionate about the need for education; there exists a large cohort of girls going undiagnosed until 12 or 13 years of age, only receiving a diagnosis with the absence of puberty. All potential to gain maximum adult height is lost with a diagnosis as late as this and doubles the difficulties experienced by the TS sufferer. I personally experienced a significant cutback in the level of care when I transferred from paediatric to adult specialists. I believe this is an ironic twist of fate as the transition into adulthood is when the greatest need for care arises.
While adult medical services are based on a different ethos and premise compared to paediatrics, I found adult doctors woefully lacking in specific knowledge on TS-related health issues. To think that even in the medical field TS is a little known condition gives me cause for great concern and I eventually hope to make a difference. As with any medical condition or situation in life support is invaluable – it is central to survival.
One of the most beautiful things to come out of hardship is that, to survive, you must look deep within yourself and find who you really are. It challenges you to examine yourself in a way that only hardship can and I certainly found a certain sense of empowerment arose out of this. Instead of looking at what was wrong with my life, I challenged myself with the glass-half-full motto. It wasn’t long until I found my source of inspiration; I had so much to be grateful for. I was surrounded by amazing family and friends; I was afforded the opportunity to do an extra essay which would allow me to achieve a level 8 honours degree. In turn, I could then look forward to postgraduate study in a topic of my choice. And that is exactly what I did!
A Masters in Health Promotion took me to the West Coast of Ireland and I spent a full year there completing exams and assignments before graduating in November 2012. This course challenged me, stimulated me, excited me and I knew this was the career for me. Now working in a Dublin-based university, it is worlds away from the hectic hospital environment that proved extremely stressful with an ever-increasing workload.
The journey ahead no longer frightens me
For a long time, I feared that worries concerning medical complications throughout my childhood had matured me way beyond my tender years and characterised me as being devoid of any sense of fun, but, after a long journey filled with lots of soul searching, I can finally say that I am at peace with myself now. In fact, I quite like the person that the culmination of these personal experiences has moulded me into. I wouldn’t be the person I am today without my past so I wouldn’t change a thing.
As I reflect on my life today as a TS survivor, the journey ahead no longer frightens me. I have learned to stop comparing myself to others because that is a fruitless exercise and a waste of valuable time. I am unique and I plan on embracing it. The path laid out before me is unclear and while I may travel a different road to everybody else, I am certain that it will lead to a long and fulfilling life.
Triona Keane is a 28-year-old TS woman getting on with life, hails from Cork, arrived in Dublin at the beginning of the year, now about to begin work as a Health Officer with DIT. She loves singing, drama, reading and keeping fit in her spare time.
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What an incredible read. It was extremely moving and brave of you to come forward in such an honest way about your experiences. Thank you for sharing your story, I wish you all the best in the future
Triona, your beautiful and honest writing has brought tears and laughter. My daughter has TS age 10. She needs girls and women like you in her life and we have met quite a few thought TCGI. Thank You for sharing your experience. Very brave and a wonderful gift.
Thank you for writing this – a really informative and touching read. To refer to you as brave would just be patronising … The very best of luck in your future.
Fantastic article about a syndrome I’d say most of us have never heard of. Sounds like your life has been a real struggle. However it would appear you have come out on top! Well done and continued success in your life and career.
Thank you for sharing your story. You are a brave and bright young woman who has overcome lots of challenges. TS is little known but I’m sure there are lots of girls and women out there for whom a network would be invaluable. Good luck with all that you do in life.
At 14 having a tumour removed was my udea of fun but stunted growth and voilant headaches and going colour blind didnt help plus after my op like u going on growth hormone and because my tumour was on the right side of my brain all my pituutary glands were removed so again like u ive been on hormone replacent therapy abd stil being on it at 39 life goes on but i stil end up with all the problems years of takibg medication does to ur body like u id live to put pen to paper and would love to read the full story and maybe meet such a strong willed lady who by my book just gets on with her life
Thank you Triona for a remarkable story – particularly touching for me as the father of a 17 yr old with TS. I will share it with her and my wife; it is so important for our daughter to have role models who are honest about the challenges and have succeeded in spite of them. A must-read for anyone who wants to learn about the struggles and even the joys of living with TS.
As a woman (29) with TS, this story just lit my whole world up. I am so, so grateful to you Triona for sharing. I made the plea just last week on my own blog for more women with TS to tell their stories because they are so desperately needed. When you said you wanted to tell the kind of story that would have benefited you when you needed it, that’s exactly what I hope to do as well. Thank you for your courage.
Well done Triona on a wonderful article. It was very informative and well put together, and really highlights the struggle to you have gone through. I have recently ‘come out’ about a rare genetic disease that I have, because like you I felt the desire to educate and create more awareness about it and completely understand your reason for doing so. Wishing you continued success in your life x
May God continue to bless you & help you with any obstacles. My little 10yr old grandaughter has mosaic Turners & has had a multitude of problems, but her spirit & determination is incredible . You girls are Gods gift to this world for reasons unknown. Like you, she wants to help people. She aspires to be a doctor, but right now her vision is quite poor. …….time will tell. God bless. Best wishes in the road ahead.
Triona this was beautifully written. As a TS woman, I can totally relate to alot of what you’ve gone through. It’s funny, I went to nursing school for a while too.
Thank-you Triona – your words meant a lot to me. Although I was diagnosed very late in life, a lot of what you expressed “hit home”. There is still a lot of life ahead for you and other TS women! We Rock!!
You are an AMAZING woman!
First, I must say, your writing is profoundly inspirational for anyone-let alone for TS gals.
Thank you thank you thank you for sharing this perfectly honest truth about what many of you gals must endure secretly. Hopefully you can break the glass wide open in the medical community and they actually begin REAL studies on TS patients. It’s nearly unconscionable that they still have very limited studies and real help for you girls.
My daughter was diagnosed at 13 only because her doctor ( who was TOO busy trying to be promoted to head of hospital , and succeeded) never saw ALL of the red flags–like not making it on the growth chart at all!
Below zero percentile on the growth chart, hospitalized and surgery for Mastoiditus, ( he never even came to the hospital and she was in for one month!).
You are beyond eloquent, highly educated and a true inspiration for all girls with TS and beyond!
Don’t let one of those dark moments in your life ever go wasted–we feel your pain and struggles and can only HOPE that our daughters ( I speak for all TS moms) that our daughter’s find the level of confidence you have.
Everything you spoke about–my daughter goes through–it’s daunting for her. I pray she finds the level of tenacity, strength and confidence that you have found in your life–God Bless.
I hope you haven’t stopped reading your comments. As I read your write-up, alot of emotions flooded me. I have a cousin with Turner’s syndrome and I can remember growing up with her, how I used to tease her about her neck and not give her the respect she deserves because of her height. But as I grew older, I became more inquisitive. Now, I’m in medical school and I’ve learnt more about TS but I have no power to do anything. By the time I will be able to afford to help her, she would be 20. And although I try, the thought still weighs very heavily on my mind. I love my cousin very much and I wish I could shield her from knowing that she’s different. I see her with children and she has soo much love to give and it breaks my heart.
I am a 20 year old from Ohio. I was diagnosed at 13 and immediately began growth hormone until I was 17. I was fortunate that it worked. I was also a very sick baby and child. I have had a similar experience with not having many friends and not feeling normal. It took me a long time to finally accept not feeling normal. I have my good days and bad days. I never tell my friends either and it’s hard when things het hairy because they don’t understand. It’s just really great to not feel so alone in dealing with TS. Thank you for sharing!
I sure can relate. I pursued a career in OT but didn’t handle the clinical stuff.
Later I went in to education and had trouble with my student teaching..
I adopted two children. My daughter from Haiti and my son U.S. adopted from the state of Georgia.
I was dealing with out of control kids and trying to complete my student teaching as my ticket out of
a marriage I couldn’t save. ( My son likely had fetal alcohol exposure which we were not told.)
This fell about and I have not really been able to put my life together and I am close to 52.
I sub teach now but can’t get a full license. I hurt so much that my kids have rejected me. I go to Mass too.
That is the only thing that sustains me. I am always treated differently too. I was diagnosed at age 16.
Julie leon! You Stay Strong!!
No matter what! You find something that makes you happy and contributing! Do not let your obstacles stop you. Take a ballroom class something that brings you joy!
Julie leon! You Stay Strong!!
No matter what! You find something that makes you happy and contributing! Do not let your obstacles stop you. Take a ballroom class something that brings you joy!
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The choices you make regarding the purposes and entities listed in this notice are saved and made available to those entities in the form of digital signals (such as a string of characters). This is necessary in order to enable both this service and those entities to respect such choices.
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