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PHILOMENA’S DRIVING AMBITION
The Internet Changed My Life
GIG in WALES
RESEARCH
SOUND FAMILIAR?
It was when I joined the TSSS this year and after having read the information which they had sent me, that I learnt women with TS could have some difficulty in learning to drive, and that some women had actually been told that they must not drive. I was horrified at the thought of this, to find out why please read on.
I myself have TS but knew very little about it until, as I say, this year. It never crossed my mind that it could affect my driving. As a young girl I had always wanted to learn to drive, so as soon as I stared to work I sent of for my provisional licence and set about booking lessons. I was looking forward to passing the test after all it would give me freedom, independence and career opportunities.
Therefore I went to the local Driving School to book my first lesson, only to be told that I would not be able to drive one of their cars because I was to short and would not be able to reach the peddles of the car. I could not understand how they knew this because they did not even let me sit in one of their cars to find out. However I took the rejection on the chin and walked home trying not to let it get me down.
When I got home I went through the yellow pages looking for schools with small cars and found one that used Mini’s. I was worried about the first lesson because the first school had made me feel, embarrassed and abnormal because of my height, and incapable of learning to drive. However the first lesson with the new school went fine, I could reach the pedals, and the Instructor seemed to Professional and patient.
The lessons continued and as everyone does I did have a few problems, I did not put them down to TS because at this stage I knew very little about it. My main problem was spatial awareness, or knowing where the car was on the road and if I could fit the car through gaps. It was not easy trying to overcome this hurdle and it did not help when one day when the instructor shouted at me. I was very upset by this, however I did not to say anything there and then, but when I got home I phoned the office the cancel the rest of my lessons, clearly He was not the right instructor for me. The yellow pages came out again and the fingers did the walking.
A new school, and yet another new car, this time a Metro, and yes, at 4ft 7 1/2 in I could still reach the pedals. I had never used a cushion or blocks on the pedals and I did not want to start now. The instructor was great very patient, and the lessons became more and more fun. He showed me how to line up kerb with front window and wipers of the car so that I did know where I was on the road and things began to fit into place.
The test was booked on his advice and the date was getting nearer, however I was still unable to reverse around a corner without his help, so alas my first driving test ended in failure. Being the determined TS women that I am it was chin up and straight back into the office to book another test
I had a few more lessons with the same instructor, unfortunately I was told he’d had a Heart Attack and although he was fine he was not instructing anymore. I did not know it at the time but I was about to find the right instructor for me, one who was going make my lessons easy and fun. My new instructor was Anna. She was very honest and open about my driving, but I could take it. Apparently I couldn’t drive to save my life, and as to why I had already done a test was beyond her. However, I already liked her trusted her to help me sort my driving out.
The lessons flew by and I learnt so many things, we even had a burst tyre and she showed me how to change the wheel, which, yes I can do on my own (but I would always take the car to a garage make sure that the wheel nuts are tight enough).
Anna helped me with my reversing around the corner, by using the same trick with lining the kerb up at certain points on the back and side windows, and before I knew it I could reverse around on my own. We also reinforced my positioning of the car on the road and me knowing where it was.
It was during my lessons with Anna that I realised I wanted to become a driving instructor. When I told her she said “One thing at a time”, but she was very supportive and said if it was what I wanted why not. (She knew it her fault for making the lessons so much fun.)
Anyway I failed my first two tests with Anna, and as I was having two lessons a week, she suggested that if I could afford it to have four lessons a week. This might help because I would be behind the wheel more often. Even with the trouble I was having I never thought of changing to an Automatic car, nor was it suggested, I never had any major problems with my gears so there was no point. I carried on my lessons with Anna and with my third test with her I passed, my fourth test in total. The feeling of achievement was out of this world, I only wished that the first driving school could have seen me, it had taken me two years altogether, but I had done it!
I enjoyed four years of happy driving after I passed my test, keeping my licence clean before I started to train to become an Instructor. With three tests to get under my belt, one written, one driving, and one instructing I knew it was not going to be an easy ride. However I did pass them all at my second attempt. Not only did this improve my own driving, it gave me a job for twelve years, and I helped a lot of people get their licence’s, Oh and that’s how I met my husband.
To sum it all up no women with TS should be told she can not drive and if you are, do not listen. Make sure your lessons are fun and that you are happy with both the Instructor and the car and that you can reach the pedals.
I may or I may not be the first TS lady to become an Instructor, but come on ladies think about it. In fact don’t just think about learning to drive, do it! To those who say you can’t, just say. “I can and I will”. and then one day it will be “I could and I did”.
Have fun driving. Philomena.
[Ed’s note: Thank you Philomena I know you have encouraged several of the women present at your workshop to take up the reins [or wheel]again and to go for it. Hopefully like Katherine below they will be driving themselves to next year’s conference!]
by Katherine
I first found out I had TS at the age of 16 when my mum and I went to our GP because I hadn’t started menstruation. I was referred to Wigan Hospital and after having blood tests I was diagnosed as having TS. I was then sent to St Mary’s Hospital in Manchester where I had genetic counselling, an ECG and ultrasound. Then it was back to Wigan Hospital where I was put on tablets for my growth and was really pleased when 4’ 10” became 5’ 1”[& a quarter!]. After 18 months I was put on Mycrogynon and told to go back when I was thinking of starting a family!
It is only through going the Internet and finding the Society that I have learnt this was not the best advice and I was missing out on possible treatment and health checks. I never thought that typing in Turner syndrome into the key words box of a search engine would change my life so much. I emailed Arlene and she directed me to the Adult Turner Clinic at Christie’s Hospital in Manchester. I also became a TSSS member and attended the conference in October which I really enjoyed. Whilst I may have come across as quiet I can assure you that I am not usually! I felt in awe of all the new information I kept finding out and the friendliness of absolutely everybody there. One particular point of interest to me was the “Driving Instruction and Test Workshop”. By the time you read this I will know whether or not I’ve passed my driving test. You’ll have to wait until the March issue to find out. I hope to see you all at next year’s conference.
[Ed’s note: Thank you Katherine it is always nice for us to know how the services we provide help particularly the website. I do hope that you have positive news for the March issue but if not am sure that after listening to Philomena you will keep trying.]
The Genetic Interest Group (GIG) is a charity working to benefit all people affected by genetic disorders. We have around 120 charities, support groups and voluntary organisations involved in our work, including TSSS!
Since this summer, we have a GIG officer working in Wales. Buddug Williams represents patients and families in the discussion with doctors, healthcare organisers and researchers to improve existing and develop new NHS genetic services in Wales. By involving patients and users of services – giving you the opportunity to talk about your experiences, sharing your opinions and views, can help plan for the future and make sure that we have genetics services providing what is needed for people.
Buddug is currently meeting individuals, families and support groups across Wales to talk about their experiences and ask what needs to be done next. If you are interested in GIG’s work, would like to learn more about what is happening in Wales or have an interest in sharing your experiences, Buddug would be delighted to hear from you! Her contact details are below, as is GIG’s website!
Miss Buddug Williams
GIG Wales Development Officer
Wales Gene Park
Medicentre, Heath Park
Cardiff CF14 4UJ
Tel: 02920 682140
Fax: 02920 682141
Email: williamsbg@cardiff.ac.uk
Web: www.gig.org.uk
Editor’s note – There has been some comment from members that by publishing research protocols and updates in ASPECTS means that the Society endorses that research. This is not necessarily correct - the aim is to inform members of current research in order to enable them to make an informed choice as to whether or not they wish to participate in research projects.
Volunteers [adults with TS] required for a Research Study “Social and Emotional Difficulties Encountered by Adult Women with TS”
Many women with TS find that when they reach adulthood they are cut off from medical care and no longer receive the attention and management they had grown so accustomed to when they were growing up. However, it is not only in this area that many women are neglected as the majority of research that is being carried out concentrates on aspects of TS in childhood. This research is obviously very important, but everyone knows that these children will one day become adults and will find, as many do already, that the troubles they encounter in adult life are not understood and sometimes not even taken seriously.
A study that is being funded by the Child Growth Foundation and being carried out at the Institute of Child Health, is now concentrating on the troubles that women with TS encounter in adulthood. Its focus is on social and emotional behaviour and it is hoped that we can recruit 100 women from all parts of the UK (we will travel to you). PARTICIPANTS ARE URGENTLY NEEDED.
The aims of this project are to i) clarify exactly what kinds of social and emotional difficulties may be associated with Turner Syndrome. ii) to identify the nature and extent of the difficulties and iii) to use the results of this project to improve the quality of life of women with TS and to spread awareness of any difficulties that women with TS may encounter in adulthood.
If you are interested in taking part in this study or would like further information, please do not hesitate to contact the study’s Research Assistant (details below) without delay.
David Spektor, Research Assistant, Behavioural and Brain Sciences Unit, 4th Floor Institute of Child Health, 30 Guilford Street, London WC1N 1EH.
Tel: 0207 905 2311
E-mail: d.spektor@ich.ucl.ac.uk.
The researchers are pleased to report that they have reached their target of 100 participants for this very important study. Preliminary results are expected early next year. Hopefully we shall be able to print them in the March issue of ASPECTS.
As Editor I am delighted to be able continue this popular column. It is apparent that members are benefiting from sharing their experiences with others. It takes courage to share sometimes painful experiences but in doing so it can give hope to others. To me the “Sound Familiar?” column has been one of the most rewarding, I know from the reaction we receive after publication that it does help and even if only one person gains benefit it is well worth it. For this, my last issue, I have decided to indulge myself and include four such stories and would like to thank the authors very much for allowing me to publish them.
I found out I had Turners Syndrome when I was 15 years old, which is quite late in life. It was all a big shock at first. I remember coming out of the appointment in which the doctor told me simply stunned, not really able to feel any emotion, but feeling more like I'd just been slapped in the face. I was devastated at learning that I probably wouldn't have children and I was very overwhelmed by the amount of problems that were associated with this syndrome, and the amount of medical tests I had to have. However, I soon realised that most girls with Turners will only ever have a very small fraction of these problems in their lifetime.
Fortunately, the only medical problem I have so far is a horseshoe kidney, and problems with my ears (which are getting better as I get older). The worst part of finding out I had Turners syndrome came when I went for my second hospital visit. I was told that I had a form of Turner syndrome mosaicism with fragments of Y chromosome. I was told that this meant my ovaries ran a strong risk of being, or becoming, cancerous. My doctor recommended that I had them removed as soon as possible. This really threw me back. I had just started to get used to having TS, when I was told my life could be at risk from it. I felt like I'd taken a step forward and was now taking 3 steps back. However, a few weeks later I had the operation and it was all a success. There was no sign of cancer and after a few days I had nothing to show from it apart from a couple of small scars. Because of this drama, I hadn't given my height a second thought. However, a few months after I found out I had Turners syndrome, I decided to go on growth hormone. I didn't hold much hope for it doing much at first, as I was quite old to be starting. However, after just under 2 years I have already grown from 141cm (4ft 7 and 1/2) to 154cm (almost 5 ft 1) and still have some more growing to do. It goes without saying that I am delighted at the difference it has made.
For the past 3 years, I have attended the TSSS conferences in Blackpool once a year. To all you people who have half considered going to these and then decided not to, please do. They are brilliant. On writing this, I have returned from the 2003 conference a few days ago and, yet again, had a great time! My biggest advice to you all as somebody who has Turner Syndrome would be to go to any meetings and conferences and get in touch with others in the same boat. There really is no better way to learn what Turner Syndrome is all about, and I myself have formed some really close friendships. Also, PLEASE don't feel like a girl with Turner Syndrome cannot achieve anything they want to. I got 6 A*'s and 4 A's in my GCSE's, and hope to become a doctor, so you truly can do whatever you want to just as well as anybody else.
[Ed’s note: Thank you Jess I know it can be very difficult for teenagers with TS I am sure your encouraging story will help.]
I was diagnosed with Turner Syndrome at birth; Mum tells me I was a ‘classic’ case. I have been very fortunate and not suffered any major health or developmental problems linked to the condition. However, after diagnosis had been made I was not monitored in the way that babies with Turners are today. I first remember being told about Turner Syndrome at about the age of seven, Mum took me to see a doctor at Great Ormond Street Hospital. I remember being very excited about the train journey and a new dressing gown. In fact I was extremely fortunate: my parents had heard about the introduction of human growth hormone after a neighbour read an article in the Guardian, and they arranged for referral to Great Ormond Street. By the time of this first appointment, human growth hormone had been discredited; only a few months earlier it would have been prescribed and I could have faced the dangers of CJD.[Ed’s note: there is no danger from CJD now since 1985 GH has been bio synthetic] From this time I had six monthly trips to London until I stopped growing and twice I had an overnight stay at the Middlesex Hospital to take part in research on the production of growth hormone in girls with Turner syndrome. I enjoyed the train trips to London and sightseeing in the capital, not to mention beef burgers on the train home! For the first few years I had oestrogen and steroid treatment and I began injections of synthetic growth hormone at about the time I started secondary school. My GP practice has always been very helpful about arranging referrals and prescribing expensive growth hormone
As I grew older I understood more about Tuner syndrome. It is important not only to explain Turner syndrome to girls at an early age but to update the knowledge appropriately as the child grows up. For example I remember it was a biology lesson before I understood how chromosomes work and that this had not been explained to me. Also while I knew I would not be able to have children from the beginning it was very much later when I realised that this meant that I would not go through a natural puberty. When I was sixteen and had recently completed my GCSEs I stopped growing (4’’10, not bad though I would have liked to be 5’’) I left Great Ormond Street and joined an adult Turner clinic at the Manor Hospital, Walsall.
Academically I did well at school, though I found practical subjects such as art and CDT very difficult. Mum and Dad being teachers and very supportive of our education helped. The secondary school was not told about my Turner syndrome, mum and dad felt that once a disclosure was made they could not control who had information about me. Fortunately I was able to effectively drop these subjects at fourteen and take Drama instead, which I enjoyed. I also found Maths hard but, with the help of home tuition, I achieved a C at GCSE, which allowed me to apply for university. I did get extra time in GCSE and A-Level exams because of uncoordinated handwriting at speed, although at University I felt that this was no longer required. I really enjoyed my time in the sixth form where I could concentrate on subjects which really interested me: History, English Literature and Law, gaining two As (in History and General Studies) and two Bs (in English and Law). A small school based sixth form where I knew everyone also suited me socially. I studied History and Politics at Keele University. I was rather nervous about this; more about living away from home and the social side than academically. However I soon settled in at university and made friends joining the Film Society, Community Action, Amnesty International and the Paradise Club (a social organisation linked to the Christian Union). I didn’t encounter any significant problems at university and ended up with a 2:1.
I decided to continue with my academic career and studied for an MA at Warwick University. This involved moving back home for financial reasons. This was also the time when I managed to pass my driving test at the fifth attempt. I enjoyed my research so much that I expanded my dissertation into what I hoped would be a PhD. This was not to be the case but, after four years spent studying the campaign for equal pay in teaching and the civil service, I was awarded a M. Phil, the second highest degree. I am now about to begin a career as a librarian.
I hope that, if you do have any doubts, that this will reassure you that having Turner syndrome does not mean that you cannot achieve well academically and indeed in any other area of life.
[Ed’s note:Thank you Katherine and good luck with your new career.]
Abby was born in 1986 and was the heaviest of all our babies at 8lb 2oz. She was very chubby at birth – it has long been a joke in our house that all her weight was on her thighs! Little did we realise until much later that the fact that she was heavy for her length should have been a warning of something not being quite right. But in the absence of other features such as webbing at the neck and puffy hands and feet, nobody suspected a problem.
She was always small for her age and was in fact very cute as a toddler, with big blonde curls and blue eyes. Although I knew she was petite, when you live with a child every day you don’t necessarily think about their height in relation to others. It’s just the way they are.
The alarm bells rang when she began primary school at rising 5 and the school nurse told me at her check-up that she was below the bottom of the height graph and suggested we get her checked out by a specialist. I immediately went to see our GP who referred us to a paediatrician who sent her into hospital for the day for a check on her growth hormone levels, as well as taking a note of her height and ours. It did not occur to him to Karyotype her.
Her natural GH levels were on the low side of normal which, together with the fact that my husband’s family is short, led him to believe that this was the reason for her short stature and slow growth. I have since learned that low levels of natural GH are a feature of TS.
He continued to monitor her for a while and then she was discharged unless we wanted to go back to him. I became concerned again when she was 9, just before our son’s barmitzvah. I had bought her a velvet dress in Laura Ashley in the winter sale 6 months before with a view to her growing into it for the autumn (it was about 1 inch too long). When she tried it on a few days before the party she did not appear to have grown at all, and at that point I decided something was amiss.
I took her back to the same paediatrician who did not have any further suggestions to offer me. Sometime later I tuned into Talk Radio with Anna Raeburn who happened to have Tam Fry on the programme talking about growth disorders, a very fortuitous coincidence as it turned out. I immediately rang the CGF who advised us to see a growth specialist. We are very fortunate in being within reach of excellent facilities in Manchester and in fact the Christie Hospital with its endocrine unit is round the corner from my office and 5 minutes from Abby’s school.
I went to see our GP who was sceptical that we would find anything but referred her in any case. We visited Prof Shalet who took one look at Abby’s upturned fingernails which together with her short stature made him suspect TS. A few days later we had a call from him to tell us of his diagnosis which was quite shocking, as at that time I had only a very hazy knowledge of what TS meant, especially as apart from her short stature, to us she exhibited no symptoms at all. Prof Shalet’s comment to us was that it was a lesson to test for TS even if you think the diagnosis is unlikely. Our GP was quite taken aback also. Abby is mosaic which explains why she has very few of the classic TS features.
She immediately started daily GH injections with a wait-and-see policy re oestrogen. His view was to give her as much time as possible on GH before introducing hormones. However in the event she didn’t need oestrogen as everything has happened on its own. She is now a curvaceous 18 year old with a regular menstrual cycle, more than we or she could possibly have hoped for. She is 5’2” tall and although she would prefer to add a few more inches to her height, large platform soled trainers have been a godsend when she goes out on the town with her very tall girlfriends.
As she has grown we have been amazed to see how she has blossomed. Once upon a time she would never go to bed beyond 9pm, as the alternative would be too much to cope with. These days she is never in bed before midnight.
She recently passed her driving test at the first attempt although it took quite a while to get to the standard required. I am convinced that she has difficulties with her spatial judgement as she is inclined to take off when there isn’t quite as much room for manoeuvre as I would think safe. She would never agree however. She has become increasingly proficient and in fact drove to Cardiff and back with a friend recently without our knowledge (we were on holiday and left her the car to use) to see her favourite rock band. Once she was home safely and told me about it I didn’t really think there was much point in discussing it!
She has recently been diagnosed with Crohn’s disease, which I understand can be linked to TS. She has however soldiered on in characteristic fashion with hardly a complaint. She is now on medication which should sort out the worst of the symptoms.
She is a highly intelligent young lady who recently passed her A-levels with 4 A-grades and is heading for Oxford in 2004 to study Politics, Philosophy and Economics with a view to eventually becoming a lawyer. She is currently on a gap year in Israel with her youth group, safely away from the current “hotspots”, teaching English and computing to underprivileged kids and learning to be an independent adult. For someone who once upon a time would not go and sleep over at friends or pined for home after 2 weeks on holiday, this has been a huge step indeed.
So from having a relatively late diagnosis and anticipating the worst-case scenario the outcome so far has been better than we could have possibly have imagined. Of course issues of fertility have yet to be addressed although the geneticist we have seen seems to be quite optimistic that she can have children naturally. Now it’s just a matter of meeting Mr Right, if he can be fitted into her complicated career plans!
[Ed’s note: Thank you, it is so nice to hear that Abby is doing so well and we look forward to hearing all about Mr Right when he comes along!]
Last Friday was a typical term-time day for a Mum with a pre-school child. Up quite early, making a packed lunch for my husband, breakfast, tidying up and then out. We stopped off at the train station, a place of great excitement when your nearly two, and then on to preschool age gym class. My son fell asleep coming home in the car after all that exercise.
Later on I opened the magazine I’d been given in the class and there was an advert in it from CHILD the charity that help and support those affected by infertility. “The only thing more painful than having a baby is not having a baby!” Memories from the last seven years and our journey to becoming a family came flooding back.
Stuart and I married in 1996 and decided to try IVF as soon as possible. We were referred to the Hammersmith hospital and had our names put on the waiting list. It was a long wait, until 1998, when we finally reached the top of the list and had our first attempt using an anonymous egg donor. We didn’t expect it to work but we hopped so much that it would. The cycle went as planned and I had no problem with the medications but there was no pregnancy. We were heart broken but decided to try again in 1999 as the donor had given enough eggs first time to permit freezing some embryos for a further attempt.
I felt more positive second time, it was going to work. I really convinced myself that it would. It was stressful, arranging time off work for the trips to London, endless phonecalls, the frustration of not being able to speak to the busy doctors or nurses. The cycle was the same and although nothing went wrong there was no pregnancy. There were no embryos left and we didn’t have a donor.
In 1998 we had also put our names on the waiting list at the Lister hospital and in 2000 we were able to have a another attempt there. We decided it would be the last one, especially as our families couldn’t bear to see us hurt again. For the third time the scan and transfer of embryos went as planned but the pregnancy test was negative. I cried for days on and off, barely able to think of anything else apart from babies, pregnancy etc. When you feel like that everything reminds you of what you wish for most in the world.
In 1999 we went to a Social Services Open Day about adoption. We left white faced and confused. Was it what we wanted? They convinced us that all the children were school age with many difficulties. They explained the assessment and selection process in brief. We were still reeling with pain from the 1st IVF attempt and were not ready for adoption.
By 2001 we had, however, come round to the idea of adopting and in the summer we contacted Social Services again. I got on well with the social worker immediately and she arranged a date to visit. We were so nervous, our kitchen was being refitted and was in chaos, but the visit went well. 6 weeks later we had a letter that changed our lives. We had got a place on an adoption preparation course in the September/October. It felt so right and we looked forward to it and dreaded it at the same time. The course was held over three days with a fortnight between each day. It felt positive in comparison with the open day and we met others in the same position. One couple Sue and James have become close friends. They went over the procedures, the changes to expect as adopters,legal implications, contact with birth families etc. It was draining but fine. Then we had to wait again! Christmas came and went – nothing.
In 2002 we called them up to see if they were going to proceed with us and start our assessment for presentation to the Panel. They said yes and our social worker said she would start with us straight away. Imagine our shock when she said sat on our settee on her first assessment meeting with us and said they had a child for us in mind! A boy aged just 4 months. They wanted to speed through to Panel. We decided he was right for us and we went to Panel in April. We were approved and matched with the baby on the same day. We called our families, colleagues and friends, then went on the London Eye, ate out and went to see the film“About A Boy”[how appropriate].
“He’s yours,” our social worker said to us as she emerged from the meeting in County Hall. It seemed that at last our dream was coming true. The baby was now 7 months old. The following week we met our son. He had his back to the door; he was sitting on the carpet with his foster mum. I noticed his blonde curly hair, and then as I picked him up his dark brown eyes. The meeting went well and photos were taken. We had two weeks to transform our home to a childproof house and get high chairs, cot, buggy etc. It was hectic and exciting. I left work and prepared for our new life. We met ‘Daniel’ three more times before we brought him home on 15th May just days before my 30th birthday on the 23rd – what a present!
The first few months were quite hard. Our baby was so active, a real crawler and I didn’t know many other mums. But by September we were in a local coffee club, gym class, music class and toddler group. I cried the day he walked and said Mummy and Daddy; it all happened on my Dad’s birthday the 20th of September, just before ‘Daniel’s’ first birthday.
‘Daniel’ is asleep now, he’s two next week and looking forward to his party. He has lots of friends, his best friend is Sue and James’ adopted son. We’re thinking of adopting another child, perhaps next year. /We have been o lucky, it was right for us but we’ll never forget the hard times. Now there’s a certain party to prepare for and he’s playing with his friend this afternoon. It is not a very easy way to become parents but for us it’s been worth everything we have been through.
[Ed’s note: An inspirational story and an example of the moral that’ if at first you don’t succeed, try and try again’ thank you Clair.]
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