| ASPECTS |
|
||||||||
|
|
|
|
|
|
|||
Contents
Book and Video
A day in the life of....
AGM
Importance of Adult Clinics
Research
Debbie's Story
How Turner Syndrome Has Enriched our Lives
Message board
Prescription Charges
The latest book on Turner syndrome is available from the TSSS, more information and order form from TSSS HQ. This ‘must have’ book covers all aspects of living with Turner syndrome. Topics include amongst others: in–utero-diagnosis, genetics, foot care, education, specialist paediatric & adult care, plus personal lifestyle stories from girls and women with TS & families.
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.
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
Ladies – please do remember how important it is to look after your feet! If you haven’t already done so send a SAE to the office for the Footcare Leaflet.
Normally my day begins on the Day-care Unit where I see our endocrine patients for pituitary function tests or other dynamic endocrine stimulation testing. We offer EMLA cream and for children very anxious about needles or cannulation we provide Entonox gas to help them relax through the process. I am usually finished here by lunchtime, I return to the office for lunch and to catch up with any phone messages. The afternoon will be spent in a variety of ways [never a dull moment] either in our Endocrine or Late Effects clinic with our 3 Endocrinologists. In clinic I catch up with all the children on growth hormone treatment and other regular attenders. My role involves providing support for children and families, assisting the auxologist with growth measurement and plotting [we often have 35-40 patients attending who need measurement], taking blood samples and training patients in how to administer a variety of medications, liaison between home/school and social services. I provide home visits for children when they start on growth hormone treatment and often I visit after school hours. After battling through rush hour I make my way home to track down my 13-year-old daughter who is usually at a friends house or invited a friend round for tea!
[Ed’s note:- Whew Sally! Thank you for all you do for your patients and the TSSS.]
In accordance with the Constitution and to comply with Charity Law notice is hereby given that the Annual General Meeting of the Turner Syndrome Support Society [Reg Charity 1080507] will be held on Saturday 18th October 2003 at 9:15am in the Dunes Conference Complex, Pontin's, Blackpool.
Agenda:-
Chairman’s Report
Treasurer’s Report
Election of Committee
AOB
Written questions for the AGM should arrive at the TSSS office no later than Friday 10th October 2003.
Nominations for Committee membership must reach the TSSS office by 22nd August 2003 and in writing please. If you would like to become more involved with the workings of the Society but do not wish to become a fully fledged Trustee or Committee member the Committee would still like to hear from you, there are always areas where your help would be much appreciated. This is your Society and your involvement and opinions are important.
Keith is retiring as a Trustee at the AGM
Susan – Treasurer having served three years is resigning as a Trustee and being eligible is standing for re- election.
Stephen l – Webmaster having served three years is resigning as a Trustee and being eligible is standing for re-election.
By Lisa
A lot of women with TS will remember that feeling when they are told that they are too old for the children’s clinic. From personal experience I can remember being told that at sixteen that was it – there was nowhere to refer me on to, so from that time to the age of 21 I went unmonitored.
At 21 my GP referred me to a doctor in the local fertility clinic, he took me off the pill and put me on HRT and told me to come back when I wanted to start a family, I was a bit stunned and was left unmonitored for a further 10 years.
In 1998 as part of the IVF process I had to undergo a MRI scan, I was told everything was normal and was healthy enough to go through with the treatment (but that’s another story)
It was the year 2000 while at Blackpool for the conference that I discovered that there was an adult clinic in my hometown and on my return I went to my GP and asked for a referral. The clinic had been held earlier that month so it was October of the following year that I got an appointment. The doctor was brilliant and I had a lot of tests done like thyroid, bone density and kidney function.
On my next appointment (October 2002) I was sent for another MRI scan which came through in January 2003. I went along and never thought any more about it until I received a letter with an appointment to see another doctor the following week. The letter asked me not to come alone, and to bring a friend or a family member, of course immediately alarm bells started ringing but I did not unduly panic. I had never heard of this doctor and it was at a totally different hospital to any of my previous tests or appointments and I knew I had another appointment for the TS clinic in a few weeks.
My husband came with me to the appointment as he had an inkling something was wrong (but he didn’t tell me until after the appointment). When I met the doctor I was told that the MRI had shown that I have an enlarged aorta measuring 3.5cm whereas an average width is 2.3cm. The doctor said there was no need to take any immediate action but it needed to be monitored, if the size increases to between 4 & 5cm then I would be offered an operation to replace the valve and pipe, in the meantime I would be fine and should look out for symptoms like breathlessness, I will now be having MRI scans annually to monitor the condition.
I cannot say this upset me but I was shocked. I hope that by telling this story all the ladies reading this will realise the importance of the adult clinics. I know that Angela worked tirelessly on this and that Pat is continuing her good work.
To be blunt having this MRI has almost certainly saved my life, I feel that’s reason enough to give 1 hour of your life each year to go to an adult clinic so come on ladies get off your butts and get referred you won’t regret it.
[Ed’s note – Thank you Lisa for sharing your story, a salutary lesson to us all - doctors and those with TS alike. Look after yourself]
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.
Although this collaborative study into growth promoting treatment for Turner Syndrome (TS) will continue for several years before the final results become available, its recruitment period will shortly come to an end. This randomised, double blind, placebo controlled study is being carried out on behalf of the British Society for Paediatric Endocrinology & Diabetes (BSPED) and 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 (see previous editions of ASPECTS for further details of the study design). Rather than testing new, unfamiliar drugs, the UK Turner Study uses established modes of treatment at current “best practice” doses and aims to “fine-tune” existing therapies in order to maximise the growth of girls with TS.
Almost 100 girls from all over the UK have already generously enrolled. However, there is no upper limit and MORE PARTICIPANTS ARE URGENTLY NEEDED. The success of the study is dependent on the support of families with daughters with TS.
Girls aged 7-13 years inclusive, who are currently receiving growth hormone treatment and have had no previous treatment with oxandrolone or oestrogen are invited to enrol.
Please contact your Paediatric Endocrinologist or the study’s Research Assistant (details below) without delay for further information:
Emma-Jane Gault, Research Assistant, Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, G3 8SJ
Tel: (0141) 201 6952 Fax: (0141) 201 0837 Email: EJ.Gault@clinmed.gla.ac.uk
Dr Julia Ostberg , Department of Endocrinology,
South House, Middlesex Hospital, Cleveland Street
London W1N 8AA Tel 020-7380-9449:]
The above study [see December 2002 ASPECTS for details] is ongoing and if you are interested in taking part please contact Dr Ostberg direct via the above address. If any of you are already taking part and would like to write about your experiences for ASPECTS please send you articles to me, Lynne Morris, my details are on page 12. It is always interesting to hear your views on taking part in research.
At three days old, however, my mum and I were still in hospital. I had some kind of heart problem, I have heard a few different versions – that I had a heart attack, or had a hole in the heart, a congenital heart condition. It could have been the coarctation of the aorta that is common with TS babies. Dr Patrick Steptoe, who pioneered the first test tube baby, was on duty saw me then and I was in and out of Pendlebury Children’s Hospital Salford for the first year of my life. In fact on my first Chistmas I was rushed into hospital having stopped breathing and being very blue looking. I had a major operation round about my 1st birthday and touch wood have been OK ever since. All this must have been a nightmare for my parents. My brother too, who is 8 years older than me, showed great patience in waiting around day after day in hospital waiting rooms during school holidays. I owe him thanks for that; he is always protective of me even now. I used to have annual check ups with the paediatrician and regular blood tests when I was a child up to being about age 14, when I should have been transferred to an adult clinic.
I had a normal childhood and was a little horror! One example is one day a friend and I found some tins of grey paint in the garage and painted the next door neighbour’s wall with this while they were out shopping, I would have been about 4 at the time. When I was about 6 or 7 my mum took me for some new shoes one day [I wanted red shoes] but they didn’t have my size in red. Well I created holy smoke about this, refusing to leave the shop – all the other customers were watching open mouthed, it was very embarrassing for my poor mum.
When I was 18 my mum took me to the GP as menstruation had never begun and I was referred to a gynaecologist. When I attended the gynaecologist appointment he just examined me and took blood tests and that was it, end of story. I was just told I would never have periods and never be able to have children. He and his team also mentioned something about distorted chromosomes. Some months later when I was to have my teeth out in hospital the lady dental officer just came out with something like “as she has Turner syndrome.” My mother and I thought, “what on earth is she talking about?” No explanation or anything was ever given, and to be honest I didn’t think too much about it at the time, being relatively young. Perhaps in those days information about TS was not as available as it is now, not even to doctors?
Over the years I have had various hobbies, including being a Brownie Guider and gained my Quarter Master Certificate. I also did amateur operatics and dramatics I enjoyed being on the stage and love singing. I still love it and enjoy karaoke in particular. I also love clothes and enjoy dressing trendy and young, [not really age appropriate], but I love fashion. Another thing I love are holidays. I went to Jamaica at New Year and really enjoyed this despite my feet and ankles swelling up like balloons due to the heat. I also like Florida; I have been there three times now. In July I am going to Malta and can’t wait.
My closest friend did read up a bit on TS for me and came up with the theory that I went through the menopause whilst in the womb before birth! Sadly she died of cancer two years ago and I do miss her.
I have kept healthy on the whole; I did have ear infections as a child and a really bad one when I was 21. The only thing I did have which wasn’t related to TS was a tightening of the gullet – food used to get stuck on the way down and boy was it painful, it used to bring tears to my eyes. The only thing that helped was drinking cold milk. I had a small operation where they put a balloon instrument down my throat and stretched the gullet, this was about 11 years ago and touch wood I have been OK since. My weight plummeted to under 7 stone it was very worrying. However, I have now put the weight back on and more!
Only recently have I plucked up courage to find out more, via the Internet, about TS and came across the TSSS website and contacted the Society. Arlene very kindly returned my call and informed me that I needed certain health checks to keep me fit and well for the future – i.e bones due to risk of osteoporosis [I should be on HRT for this] etc. which was very good advice. I immediately hot footed to my GP and showed her the information I had received from the Society and she has referred me to a Professor in Manchester. I have just received an appointment with him for the 7th October.
I possess a lot of the classic hallmarks of TS I am only 4’ 11”, quite chubby with puffy feet and ankles. I also have a mole on my nose. When I was about 8 or 9 the doctor said I would not grow anymore and I was 4’2” at that time when all my mates were heading for 5 foot. I was hopeless at maths at school. I got bullied [even kicked in the stomach on one occasion], the lads were particularly cruel, calling me all the names under the sun. I was so relieved to leave school.
From school I went to college on a commercial /secretarial course, where I did not do too badly. I got me secretarial diploma at the age of 19 after three years. I always enjoyed shorthand and always used to get 2nd top marks in the class for weekly dictation. I do have a hearing problem, which has got worse over the years and I now wear two hearing aids. I work as a clerical officer for the healthcare profession and part of my job entails taking Minutes at meetings. Despite my two hearing aids my boss recognises that this is one of my strengths and at which I am good at. I do like routine and this is also recognised, so one of my jobs is to change the security video and computer file server tape and you can set the clock by me - 12.30 on the dot every day!
I have my blood pressure monitored monthly by my GP and have annual blood tests for cholesterol, kidney function etc. I had my first cervical smear last year. I suffer from swollen feet but luckily we share our clinical work with a podiatrist, who tends my feet for me. She is a real lifesaver. I am now wearing support tights to ease the swelling in my legs and feet.
I have lived on my own for 15 years now and cope OK but sometimes find it hard financially. I am hopeless at managing my money. I do like to be independent though but my parents are a great help and they live nearby. I still hope to meet that ‘special man’ one-day but it is a bit late regards possibly having children by IVF or adoption. I have always wanted children and can’t help feeling I have been robbed of something. I wanted to be a nursery nurse when I was younger and work with children.
As a new member of the Society I shall be attending my first Open Day in Leeds and also the Conference. I have not met anyone else with TS and look forward to meeting women and girls like myself and making new
friends. My Mum too was keen and interested to read the information I received and we have both really enjoyed reading the new book “Turner syndrome – lifelong guidance & support” and the newsletters. The girls and women who have written their stories are an inspiration to us and it is absolutely right that those with TS can achieve anything they want. I shall really look forward to those newsletters coming through my letterbox now. Who knows, I may even find a penfriend or email friend out there amongst you. That would be great.
I would like to thank the TSSS for being there and opening new doors for me Arlene for pointing me in the right direction to get the medical attention I need. I know now that I am not alone and feel more positive instead of dwelling of what might have been in various areas of my life. I will look to the future with optimism and hope.
Ed’s note:- I met Debbie in Leeds and I know she got a great deal out of the day and from meeting others with TS. I did point out to her that the problem she had with her gullet which she thought was unrelated to TS might have been – we do know of a few other women with TS who have had the same problem. If you would like to write to Debbie please do so via the office address she would love to hear from you.
[Fundraising, Local Group And More...........]
by Ann
The last 18 months have been probably the most memorable and life-changing months of my life. So what happened in January 2002 you may ask? Well a little person called Iona was born. A beautiful little bundle of joy but with puffy hands and feet. Iona was diagnosed with TS at 2 days new. Anyone who knows me will know that instead of going into a “why us, it’s not fair, how will we cope” mode, which I must say is a totally normal and fully understandable way to be; I seized the bull by the horns, thanked God for blessing me with a very special baby [special baby, special parents!!] and gained a vast amount of knowledge about TS in a very short space of time. It is with gratitude that I thank Arlene and the TSSS for being there and providing a fantastic and most valuable source of not only support, knowledge and advice but friendship too.
I am a great believer that in life, everything happens for a reason and I can definitely say that our life has been enriched in many ways since January 2002. It made me re-evaluate my life and we have met the most wonderful and dear people and have made many new friendships and all because Iona has TS. Not only has my life taken on a new dimension but also so has my family’s and friends.
So how is Iona? It’s probably no surprise to know that she is small but her larger than life character more that makes up for that. I do often wonder where Iona gets her energy from because she is like a little whirlwind. so yes, I now have to dye the grey in my hair since Iona came along. One thing that does concern me is that a common feature in the characters of women with TS is their feistiness. Well I too have a feisty character so all I can say is “watch out world for Iona ”!! Iona has not been without various medical problems over the last 18 months but her massive smile, mop of cute, but wild curly hair, her large blue angelic [but with a definite touch of mischievous] eyes and hearty laugh sees us through our challenging times. To be honest, her illnesses and problems I can often cope with, it’s the medics I have difficulty with!!
I have always been involved with fundraising in some way but perhaps in a bit of an insular and indirect way. When raising money for the school PA for example, I often thought we were merely gaining school funds that should be government provided anyway. So it was a pleasure to turn my fundraising energies and ideas into a very worthwhile cause, the TSSS, who have done so much to benefit and support us and others. The first fundraising event my husband Stuart and I organised was a Family Fun Day with picnic in the lovely grounds of our local church. It was last July and we invited along as many family, friends and colleagues that we knew. We organised a bouncy castle, games, stalls raffle etc. On the day we were thankful for good weather and about 150 people came. Morag [Arlene’s sister] organised a lovely picnic. Everyone had a great time and best thing was raising £400
Bitten by the fundraising bug and knowledge that the TSSS needs funds to allow it to be of benefit to others, I have managed to get other people involved in raising funds for the TSSS. My 6-year-old daughter’s dance school is holding a raffle during its production at a local theatre in November and one of the charities to benefit will be the TSSS. Through my dear Mother in Law’s connections the TSSS has been nominated as one to benefit from funds raised during the Children’s Charity Ball also being held in November. One of my least thought out fundraisers is the current sponsored slim that I am doing with my very dear friend and colleague, Joan. We agreed to start this last January with the aim of loosing 6 stones between us by August. Joan is doing brilliantly she has lost over 2 stone. I initially lost a stone and a half but then along came the Easter Bunny. I’m back on track and fully intend to gather ALL the sponsorship money even if it means a diet of water and lettuce during July! So please help keep us motivated by pledging to sponsor us.
Although Arlene was always there on the end of the phone we were also put in touch with some local people; and I really felt there was need to have a local West Midlands TSSS Group. I was delighted when 17 people attended the first West Midlands TSSS meeting held on 9th May 2003 in Solihull. It was a great opportunity to meet other parents, partners and women with TS, who certainly endorsed my view of the very feisty character, but very endearing too. We decided on a fundraising event for Saturday 2 August 2003 in the form of a fun afternoon Fête between 2 – 4pm in the grounds of Olton Friary, St Bernards Rd Solihull. We hope to have numerous stalls, activities and refreshments and Pete Sutton came up with the excellent idea of wet sponge throwing........thank you Pete and prepare to be soaked
We have fundraised at other events including a stall at the Donkey Derby in Shirley Park where we raised £210. Again friends and family were involved including Sean and Jackie who have a 2 year old, Shona, who also has TS. At the beginning of this I said that Iona having TS had enriched our lives and as you have read, so many people are involved in fundraising locally, our old friends, our new-found friends and our families, our daughter Alex has invited nearly everyone she knows to come to the Fete in August! Basically lots of people are rallying round for a fantastic cause. So you see how TS can bring people together.
The next meeting of the West Midlands Group will be in the lounge at the Olton Friary, St Bernards Rd. Olton, Solihull on Friday 4th July at 7.30pm. All will be welcome. At the moment I am trying to get an MP to come so we can raise awareness and seek support to campaign and lobby against the injustice of women with TS having to pay prescription charges especially for HRT.
.............so yes, a busy, but totally memorable and worthwhile 18 months. I hope to see many of you on the 4th July & 2nd August –to be continued.... Ann.
[Ed’s not:-due to space limitations Ann’s article has been edited somewhat – she is an enthusiastic fundraiser and has lots of ideas I will try including more in the next issue]
Stephen c/o TurnerSyndrome@tss.org.uk
" The website www.tsss.org.uk
We responded to member’s requests for a secure message board and set this up. I am disappointed that I have not had one reply to over one hundred invitations sent to members inviting them to join! We will keep the facility open for a couple more months. If you are a member and haven’t received an invitation yet please inform me via the Society’s e-address above. Those who have already received an invitation but not replied will get a second chance another invitation will be sent to you soon.
The website is increasing in popularity and we are receiving favourable comments about it. We try to keep it updated and as interesting as possible. Comments and suggestions for improving the site are always welcome.
Useful websites
www.ipsea.org.uk Independent Panel for Special Education Advice
www.portage.org.uk National Portage Association – supports home learning scheme for pre-school children
www.drc-gb.org.uk Disability Rights Commission
One of the issues that the Society is taking up on your behalf is that of prescription charges, especially for HRT. TS is a lifelong condition and as such, in most cases, requires medication of one sort or another throughout life including HRT. If you have diabetes or a thyroid problem then you can claim exemption from prescription charges. Both are potentially life threatening and the same could be said of osteoporosis; especially in the case of TS where little or lack of oestrogen from birth can without oestrogen replacement therapy lead to early onset of osteoporosis.
Girls and younger women with TS are, in the main, prescribed the contraceptive pill for which there is no prescription charge, but the older women are prescribed HRT for which they have to pay two prescription charges! As a result a number of women continue to use the Pill when the best way for them to receive their oestrogen/progesterone would be via HRT. This seems unreasonable to us and we are working towards getting exemption for those with TS. However, we do need your help to put pressure on as many MPs as possible to bring this anomaly to their attention. Please write to your MP and let us know to whom you have written to and whether you received any response. This will help us get an idea of who in Parliament might be willing to help us.
Hayley has already done this for us and told us how she went about it and the response she got. Hopefully, you will all follow her example and we may be able to get things changed.
by Hayley
I’ve been “asked”, in the nicest possible way, by Lynne to write on my experiences of lobbying my MP about prescription charges, so, here goes ………
Here in Wales local elections were held on the 1st May. Leading up to this inevitably you get the barrage of party political broadcasts, adverts on the TV, leaflets though the post, being stopped in the street by candidates etc, etc, etc. One such piece of literature I received through the post was from my Liberal MP and was in the form of a general questionnaire. Within this questionnaire the issue of prescription charges was raised (the fact that the Liberal’s in this area had kept the charges frozen).
Anyway, this prompted me into contacting her and lobbying her, in the nicest possible way, about TS and prescription charges. I rattled off an e-mail explaining all about TS and how women on HRT have to pay two charges and that TS is not a condition on the exemption list etc, etc, etc. She e-mailed me back thanking me for raising the issue with her. She was not aware, surprise, surprise about TS and the situation surrounding prescription charges but now she was she would certainly try to do something about it.
I subsequently contacted her office by phone to follow this up and was told that in Wales a bill has been passed that the list of conditions exempt would be scrapped and in it’s place anybody with a “chronic condition” would get free prescriptions. I was then told that this had come to a stand still as in Labour’s manifesto they are saying that within 4 years prescription charges would be free for all. Until Labour do, or do not, I was told that the Liberal’s could not proceed. So, having been given a similar election leaflet by my Labour candidate I am now in the process of lobbing him for his view!
Basically the moral of this story is we all need to lobby our MP’s making them aware of the situation and then we might be in with a fighting chance of getting this changed.
[Ed’s note:- thank you Hayley. Hopefully Turner syndrome will be the new buzzwords in Parliament before too long!]
Home | What is TS ? | Information | About Us | Links | Latest News
All web pages copyright © TSSS(UK) unless otherwise stated. Please read our copyright and disclaimer page