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Contents
"Turner Syndrome – lifelong guidance & support"
6th International TS Societies Conference
The Mandy Award
Great Day at Royal Windsor Horse Show
PRESCRIPTION CHARGES UPDATE
News Headlines regarding HRT treatment & possible link to cancer
The Teenage Treatment ‘Black Hole’
Research
CARDIFF SEMINAR
"Talking About Turner Syndrome"
FUNDRAISING NEWS
The Society’s book [title above] is proving to be more of a success than we ever dreamed of which is hugely rewarding. We knew there was need for an uptodate book on TS which gave not only the clinical side but also the practicalities of living with TS from as many points of view as possible. Fortunately, Ferring agreed with us, and through an unrestricted educational grant from them we were able to provide this much needed book on TS. Below are a couple of comments which prove the point. One from a medical person and the other a parent.Reproduced by kind permission of the "The Obstetrician & Gynaecologist" a review of the book by Prof Anne Garden, Liverpool"Turner Syndrome – lifelong guidance and support.I may be biased, having a major interest in Turner Syndrome – but I think every Obstetrician and Gynaecologist should read this book. Produced by the Turner Syndrome Support Society, this 88 page book gives a clear overview of the problems of Turner Syndrome at birth, in childhood, adolescence and adult life. In addition, each chapter is accompanied by a ‘personal view’ of a girl (or her mother) with Turner Syndrome.Most people – including doctors – don’t realise that Turner Syndrome is a relatively common condition affecting approximately 1:2000 girls and women. Most people – including doctors – don’t realise the complexity of the syndrome or the variation of presentation so that it is not uncommon for wrong advice to be given – or as one of the ‘personal views’ put it ‘It’s quite frightening to realise that you know more about your child’s condition than the midwife does’. Although the book is written primarily for girls and women with Turner Syndrome and their families and partners, it contains all the information that an obstetrician counselling a couple whose child has been diagnosed as having Turner Syndrome antenatally or a gynaecologist seeing a woman in the clinic with the condition – or, for that matter, an MRCOG candidate – could want to know. It is written in a very easy style – referenced for those who want to follow things up. Personally, I found the best bit of the book the personal stories which give a real insight into what it means to live with Turner Syndrome – at all stages of life.The book well lives up to its aim ‘..that this book will help girls and women with Turner Syndrome, as well as their families and those who care for them, to understand the condition so that they can lead happy, healthy lives’.At £5 it is a bargain – every hospital should have one in the library – and as I said at the beginning – every Obstetrician and Gynaecologist should read it."
.........and from a Mother in Australia who picked up a copy at the recent International Conference
"...............................as we had just returned from the conference, I knew exactly what her problems were. LUCKILY FOR ME, I purchased one of your books which explains things beautifully. I gave it to her teacher to take home for the weekend to read chapter 4 before our parent/teacher interviews yesterday. He now knows the reason why she is having problems and what he can do to help her now. It is my first light at the end of the tunnel and it came from a book backed up medically and not just a neurotic mother's opinion. It's such a relief to finally be taken seriously."The comments the Society has received and indeed is still receiving are all in the same vein. Specialists are even handing out their own personal copies to patients and then requesting supplies to keep in their clinics. Requests for copies have come from School Nurses, Health Visitors, GPs, Social Workers and Teachers, Consultants to name but a few. However, there are still a couple of disciplines notably absent from the list including midwives and we must now make a concentrated effort to make them aware of the books existence.
This was deemed a huge success by the TSSS members who attended. There will be a full report to members at the Conference in October and this will be repeated in December’s ASPECTS for those of you who are not attending the Conference. A brief account of the conference can be found on the AustralianTS Association’s website this can be accessed via a link from www.tsss.org.uk or http://www.turnersyndrome.org.au/events/internationalconference/conference.html
One of the groups who seem to benefit most from attending conferences, both domestic and international, are the young girls and teenagers with TS. Within days of the Conference ending we were sent the following email from a young lady in Australia.
"To The TSSS
This is for the newsletter. It is about the conference and meeting all the other girls with Turner Syndrome.
Well, On Thursday the 10th of July at 4:00 pm was when it all began. It was registration. Everyone met all the other people and talked and talked. On Saturday the 11th of July was the first day of the conference. First we made a fun video. We did scenes from the movies Grease, Moulin Rouge, Charlie’s Angel’s and Zora (the female Zoro). That was lots of fun. After that we had two other workshops. On Saturday the 12th of July we had lots of workshops which were lots of fun. On Saturday night we had the banquet dinner. They showed the cut version of the video. Everyone who went got a copy. On Sunday the 13th of July I wasn't there but there was a harbour cruise. I loved it. The 6th International Turner Syndrome Conference was the first one I had ever been too. I met lots of other girls with Turner Syndrome. We all had something in common. You pretty much made friends with everyone you met. It was fantastic. I think everyone who came enjoyed it.
Thank you.
Dominique -Age 11 Melbourne, Australia.
[Ed’s note – thank you Dominique for such an enthusiastic report of the Conference – there is absolutely no doubt that you enjoyed yourself!]
Lynne writes
The Mandy Award recognises someone who has given support and help to women, girls with TS or their families in an outstanding way. The prize is a Perpetual Trophy donated by Geoff and Glenn Fisher and is presented at International TS conferences. The award is in honour of Mandy Leanne Fisher who was born with Turner Syndrome on September 23 1981.On behalf of the TSSS I was proud and privileged to nominate Angela Merry for this Award. I am more than delighted to inform you that Angela won! Angela was not in Sydney to receive the award in person but Sandy Holmes, who has known Angela for many years, accepted it on her behalf. Angela tells us below her thoughts on learning that she had won the Mandy Award, a boulder opal set on an engraved stand. I can think of no-one more deserving as she has done so much to help other women with TS over the years.
"Dear Friends
Well what a surprise! The surprise came when I went to the excellent fundraising barbecue which dear Keith and Marian Masters organised and held in their delightful garden. It was a really lovely occasion, not forgetting the Ferret Racing, and the weather was kind too! During the afternoon Keith got out a large handbell and rang this to summon everybody together. He then read out the citation which had been given to the Fisher family to nominate me for the Mandy Award. The one thing that my brothers and sister certainly agreed with was the ‘tenacity’! However, this is not my award alone. This is an award richly deserved by our Society, the TSSS, for all our achievements over the years. There is of course still more to do especially with the TS clinics and here I do wish to mention Dr Gerry Conway. Dr Conway really does show such feeling and empathy and dedication to TS which is really exceptional. Dear Gerry thank you, you are very much a part of this award. I have heard that you were very much a star at the recent International Conference and whilst you were in Australia I know you were helping consultants in Australia to set up adult TS clinics – well done. I mention now Lynne Morris our Chairman, she on behalf of the TSSS, wrote the very generous words on the nomination to send to Australia. Tenacity though was the most accurate! Lynne also sent me the most beautiful basket of flowers when I heard I had won the award. Thank you Lynne so very much, you too despite having no personal connection with TS, show feelings and empathy with those with TS, particularly the adults, which is so much appreciated by everybody. You are so loved by everybody and our thoughts and prayers are with you at this difficult time.Thank you so much Glenn [Fisher] in Sydney for accepting the nomination from the TSSS and giving me the Mandy Award. This really was most generous of you and I feel extremely honoured and will treasure it. I have been told that Mandy’s brother and sister gave a really memorable presentation at the Award ceremony, which I will be able to see on video and I am looking forward to that. [I have since received the Award itself which Arlene brought back from Sydney, a most beautiful boulder opal] I was sorry not to be in Australia for the International Conference to meet everybody, especially those of you in Australia whom I have met previously. I gather that the Conference was very successful, new things about TS learnt and an enjoyable time had by all – congratulations. I gather too Glenn that you are retiring as President of the TS Association. You really have worked tirelessly for the Association and I know everyone over there is very appreciative of all you have done over the years. Now I, as well as others give my best wishes to you and your family, particularly Mandy, for the future.
The next main event for our Society is the Conference in Blackpool in October. I do hope that I will be there to meet up with everybody. In the meantime I hope that you have had enjoyable summer holidays. Love & Best wishes Angela
By Helen, Co.Durham
I was asked to take part in a Pony Club Charity Ride. There were one hundred of us and we raised £ 10,000 for the Air Ambulance Charity. My pony, Ralf, was brilliant on the day. Lots of other ponies jumped around when the guns and cannons were set off but Ralf wasn’t bothered ! We rode ten miles from Ascot Race Course, through the grounds of Windsor Great Park before arriving at the Show under the watchful eyes of the Royal Family ! We were all soaking wet as it poured down ALL day. We were all covered in mud, but no-one cared as it was a brilliant day and everyone really enjoyed it. It was great fun sleeping in our horse wagon with my mum and sister Anne. I hope to do something like that again one day.(Ed’s note – Well done Helen. Sounds like a fantastic day !)
A number of you have written to your MPs as a result of our appeal in the last newsletter – thank you.Ann Atkins even went so far as to invite the Shadow spokes person for Women’s Health, Mrs. Caroline Spelman MP, to the West Midlands local group meeting in July and a number of you were there to hear her say that this was an issue she was keen to move forward in Parliament.Kerry Bruerton has also had a positive response from her Labour MP, Rob Marris, who has been asking the Secretary of State for Health written questions. The replies so far have not been positive but he is persisting. To form an All Party Group we need MPs from all parties so if any of you have a Liberal Democrat MP please let us know. Thank you to all of you who are taking an active role in our campaign to have prescription charges lifted for all those with TS.
The following article has been written for us by Dr. Gerry Conway, Consultant Endocrinologist
This summer once again we received more confusing information on the safety of HRT. The latest study shows once again that women who take HRT between the ages of 50 and 70 show an increased risk of breast cancer. The new information is that women who take a preparation containing progesterone – that is everyone who has a uterus – are at a higher risk of breast cancer that those who take oestrogen alone – say after a hysterectomy. It seems therefore that the progesterone component of HRT contributes more to the breast cancer risk than we had previously supposed.All of this information really has no bearing for women below the age of 50 for whom we simply do not have enough information. The benefits of HRT below the age of 50 still seem to outweigh these risks so young women should continue to take oestrogen but plan to review this treatment as they approach the average menopause age at 50.The progesterone issue raised in this new research is difficult to factor in for young women. If you have a uterus you HAVE to take progesterone. Without it there is a large risk of cancer of the womb. We hope that in time further research will tell us if there is a particular type of progesterone that is safest – for the time being stick with the one you have. The risks being discussed are small so there is no need for urgent action. Do not stop or make any change until you have had a chance to talk it over with you GP or specialist.
by Melanie
Turner Syndrome is not just about growth and development, it is a lifelong condition, and my story could be a cautionary tale in what can happen when girls with TS are discharged from the care of Paediatric experts, as they become adult.As I was growing up my height fell behind other children my age, and although my family were all tall people by the time I was ten I was the smallest person in my class. My mother particularly noticed this as my best friend at the time was the second tallest girl in the entire primary school! At that time she must have been a good foot taller than I was. My short stature was investigated and I was diagnosed with TS at the age of 11 and referred to a paediatric growth clinic. The major concerns at that stage (quite rightly) were growth and puberty. Developing properly and being like all my friends was also the most important thing for me personally. I was treated with low levels of oestrogen and progesterone which to my great delight was quickly effective in putting me through puberty. Being small was my other great concern and I was eager to try growth hormone treatment when it came in a couple of years later. This was in its early days, before pen delivery systems and involved injecting myself with a hypodermic six days a week for eighteen months – ow!Whilst I was still a child I was treated by the paediatric system; by specialists in the endocrine and growth fields. However, when I reached 17-18 and was discharged from the paediatric clinics the feeling was that, now my final height and puberty were achieved there was no real need for further monitoring or changes in treatment. The main long-term concern I knew about then was the inability to have children, and there did not seem to be a lot to be done about that (not then anyway, although with advances in IVF, much more is possible now). I was never referred to an adult specialist, simply discharged into the care of my GP, for prescription of my existing treatment, which was a pill based hormone preparation. For some years I just continued taking the same pills and going to my GP periodically for a repeat prescription. Fortunately for me I have a mother who just happens to be a paediatrician herself, and she became concerned that I was receiving no expert follow up. At her suggestion I joined a study into bone densities and treatment for women with TS. When my first ever bone density was done I was horrified to discover that at 23 I had the bone density of someone of fifty, and at the worst point my bones were not far above the fracture level!I rapidly changed treatment onto a proper HRT preparation (as opposed to the contraceptive pill based treatment I had been on before). Over several years, with regular expert monitoring and adjustment of my treatment, my bone density came within normal range.When the bone density study ended I was again discharged back to my GP, albeit on a much more suitable treatment preparation. I was determined not to let the same thing happen again with my treatment. I wanted to be treated by specialists and when an adult TS clinic was started at Addenbrook’s Hospital in Cambridge I requested a referral.At the Addenbrook’s Clinic I have access not to only bone density monitoring but echocardiogram, thyroid function tests and even hearing tests. Fortunately for me the echocardiogram was clear, but the thyroid function tests showed that I was developing mild thyroid deficiency, and I have now been put on thyroxin treatment as well.What my experiences show is that it is easy for a girl with TS who has been treated by paediatricians up until her late teens to fall into a ‘black hole’ when they reach the age and stage to be discharged from paediatric care. It is easy to consider that growth and puberty are the only issues that need to be addressed and further ‘specialist’ care and treatment changes are not needed. But TS if it is anything is a lifelong condition, and the medical needs change over time. Had I remained simply on the same old treatments, I would be well on the way to developing osteoporosis and possibly serious thyroid problems as well. And TS, can in some people, be linked with a range of other problems also. It is therefore important that girls with TS do not let themselves fall into that ‘black hole’. If a referral to an adult specialist is not suggested then make sure that you suggest it yourself. Specialist TS clinics are now being set up for your benefit, so make sure you take advantage of them.[Ed’s note – Indeed a cautionary tale Melanie. I hope that the message is read not only by girls with TS but their doctors too. Sadly we know of too many young women who are signed off to their GP, their only medication the Pill, and no referral to an adult endocrinologist, let alone an adult TS Clinic. Women with TS need lifelong specialist care and at minimum annual health checks! An information leaflet on adult TS care is available from the TSSS office. Please send a large SAE with your request.]
Dr Julia Ostberg’s study continues and is at the gathering all the information and collating stage. Dr Ostberg hopes to be able to have an update for us for December’s issue. This is a very important study as it could have implications for the treatment of those with TS in the future. Please watch this space.
The UK Turner Study is a collaborative study into growth promoting treatment for Turner Syndrome (TS). The study will continue for several years before final results become available. The study, which is a randomised, double blind, placebo controlled study and is being carried out on behalf of the British Society for Paediatric Endocrinology & Diabetes (BSPED), is the largest of its kind in the society’s history. The study aims to examine the impact, if any, of the use of oxandrolone and the timing of oestrogen induction on final height. An update on the UK Turner Study will be included in the December issue of ASPECTS.
15th November 2003 10.30 - 1600 Outpatients DepartmentUniversity of Wales Hospital, Heath Park
We have a date for the Cardiff Seminar Day. It is on Saturday 15th November 03. If you would like to attend please complete the enclosed booking form and return it to me. It looks like it will be another interesting and informative day. Dr John Gregory and Endocrine Nurse Carol Perciville are helping me to put together the programme. If you have any ideas and suggestions let me know. I look forward to seeing you in Cardiff.This will be the second seminar that the Society has held and the first in Wales. Enclosed in this newsletter is the booking form. Please book early as it helps us to judge numbers for catering purposes and whether or not we need to organise a larger room.
Here’s an interesting question........................
We have been asked by a Mum if flaking skin on the hands is common in those with TS? Perhaps you could let us know if you or your daughter has experienced this problem on a regular basis– thank you. We could then possibly interest a dermatologist into doing some research.
"Talking About Turner Syndrome" – the video
Delegates to the recent International TS Conference were given a CD version of our video via the generosity of Pfizer in Australia. This was particularly pleasing, as the original idea for our video came from one the Victorian TS Association, based in Melbourne, had produced several years ago.
"Talking About Turner Syndrome" – the video
Copies are available from the TSSS office - on loan for £2 [or stamps to equivalent] or own your own copy for a donation of £5
"Talking About Turner Syndrome"– the booklet
A booklet to accompany the video will soon be available. Photographs and quotes from the video are interspersed with basic facts about Turner Syndrome. The booklet can also be used as a "standalone" source of information about Turner Syndrome. Once again we are grateful to the generosity of Pfizer for the unrestricted educational grant to fund its production.Thanks are also due to Pharmagenesis who actually produced the booklet for us. We hope that Harlow Printing Ltd who designed and printed "Turner Syndrome– lifelong guidance & support" and who also print ASPECTS will soon have the booklet rolling off their presses. Watch this space or please contact the TSSS office for updates.
A lot of fundraising activity has been going on over the summer and the Society would like to thank everyone for all their efforts in raising funds. Here are a number of examples of what people have been getting up to.
Pals Reach the Highest Peaks by Glyn My daughter Melissa was diagnosed as having Turner’s Syndrome mosaicism when my wife was 22 weeks pregnant. This was the first that us, our family and friends had heard of the syndrome so it has been an educating experience for us all. During a break at work my friends and I started to discuss a challenge that we could do later in the year. We came up with the idea of climbing Ben Nevis in Scotland, Scarfell Pike in England and Snowdon in Wales then while sat in our warm canteen somebody threw in that we could do it in 24 hours. Then the question was asked who could we do it for? I suggested the TSSS and the lads were behind me and so our plan was hatched.Over the next few months we trained hard climbing many beautiful hills in Derbyshire, got professional advice from expert climbers and set about planning our routes. We approached our Company Director to see if the company would support us by providing the money for the mini bus and fuel he came back to us and said that Schutz UK would be more than happy to support us in our efforts. We were on our way!Our first stop was Ben Nevis which was a rude awakening because after climbing two thirds of the mountain we were greeted by snow. We started to worry when the path disappeared and a Scandinavian climber turned back and told us that it was too dangerous to continue. All our months of planning and training looked in the balance on our first mountain, morale dropped for a moment then we took the decision to carry on and do our best and go as for as we could. We soldiered on and with the help of satellite navigation equipment and grit and determination we arrived at the top. We knew then if we did not complete the challenge in 24 hours it would be disappointing but reaching the summit of Ben Nevis was a challenge and reward enough for us. After 4 hours 30 minutes we piled back in to the mini bus for a five hour drive down to Scarfell Pike through rush hour traffic.We arrived at Scarfell and started to climb the mountain. We knew this one would be difficult as daylight was fading fast. We arrived at the top in bad light and found the trig point. We were half way there - one and half mountains to go. The descent was hazardous. We came down in the dark with only our head torches to help guide us and arrived back at the mini bus at around 11pm, tired and with a few aching limbs. Next stop Snowdon.We started to climb Snowdon at 4.15am. Two of the group members were suffering with muscle cramps, so the climb was slower and harder for everyone than we anticipated. We reached the top of Snowdon in bad weather, high winds and driving rain. After a group discussion it was agreed that two of us would go ahead to complete the challenge in under 24 hours while the others stayed and helped the two who by this time were in agony with cramps and muscle seizures. Mark and myself completed the challenge in 22 hours 52 minutes and the rest of the group completed it in 23 hours 30 minutes. A great achievement by all.Tired, wet, aching and cold we all went to the nearest cafe for breakfast and a hot drink.The three peaks challenge meant that we scaled 10,000ft in height and covered over 1,012 miles on the road. A very rewarding challenge in support of a worthy charity.
Useful Tip for school.....Colour code school books per subject and put the same colours on your child’s school timetable on her bedroom wall. This will help her to remember which books and which subject she needs them for each day. Simple but it works. Any other useful tips? Please let us know.
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