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Contents
Heart Study
Collaborative Study
Useful Tips
Age and Academia
English Woman In New York
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
“Characterisation of cardiovascular risk in adults with TS”
As reported in June’s ASPECTS the British Heart Foundation have granted an award to Dr Julia Ostberg, to research the above. This two year study began in July and some adult TSSS members may have already been approached to take part in the study. Taking part will involve an echocardiogram, MRI of the aorta, ultrasound of arteries and a blood test for glucose insulin, cholesterol, kidney and liver function etc plus DNA/chromosome analysis. Dr Ostberg will keep us up to date as the study progresses.
Dr Julia Ostberg, Clinical Research Fellow reports on the early stages
I have now officially started work as a Clinical Research Fellow with Dr Conway at the Middlesex Hospital. We have received approval from the hospital ethics committee for our study and the July clinic went very well. We are looking for anyone with Turner syndrome over the age of 18 years who is willing and able to travel up to the Middlesex Hospital in London. People may be wondering what to expect - the main thing at the moment is that they may be contacted before their usual clinic visit to ask them to come up fasting (i.e. nothing to eat or drink except water from 10pm the previous evening), and they may also be asked to have an echocardiogram (ultrasound scan of the heart) on the day of the clinic. Those who agree on the telephone will be sent an information sheet to read before their clinic visit, as well as a consent form to have a look at. One or two further hospital visits will be required in the future for further tests which will be discussed at your first visit. We will do our best to make these as convenient as possible for you.
Any research undertaken in the NHS must be approved by the hospital ethics committee which ensures that the interests of patients are protected. Members of the committee making this decision include doctors from several departments in the hospital, as well as GPs, nurses, pharmacologists, lawyers and lay members. Participation in any research project is voluntary and patients should feel free to ask any questions they wish. Patients can withdraw from a study at any time without having to give a reason – this will not affect their care in any way. However, taking part in a research project will not only be beneficial to other people with similar problems in the future - it may also benefit the participants directly, as any problems picked up in the course of the study can be acted upon.
This study, which is being carried out on behalf of the British Society for Paediatric Endocrinology & Diabetes (BSPED), aims to examine the impact on final height, if any, of oxandrolone and the timing of oestrogen induction (see previous editions of ASPECTS for study design). Recruitment is now in the final stages and it is crucial that, over the next 4 months, as many girls as possible are enrolled in the study. Given that the outcome measure being studied is final height and results will not be known for several years, it would not be acceptable to continue recruiting indefinitely. Therefore, December 31, 2002 must be considered the absolute deadline for enrolment.
To date, almost 70 girls have been enrolled in the study, making it one of the largest prospective studies in Turner’s syndrome and one of the only randomised, double-blind, placebo-controlled studies examining the use of oxandrolone and the timing of oestrogen induction. However, more participants are needed. The debate surrounding these two aspects of growth promoting treatment has still not been resolved. The previous studies using oxandrolone involved very small numbers and the optimal timing of pubertal induction remains elusive. Indeed, contrary to the widely held feeling that later pubertal induction is better, analysis of data from Glasgow revealed that those girls starting oestrogen treatment earlier showed the greatest improvement on their untreated projected adult height. Therefore, the results of the UK Turner Study are, by no means, a foregone conclusion and the study remains a very important and worthwhile project.
The UK Turner Study is dependent on girls with TS and their families. Without the generous support of every single girl who has enrolled so far, the study could not exist and the important questions about growth promoting treatment would remain unanswered. Girls eligible for enrolment are aged 7-14 years, are receiving growth hormone and have never been treated with oxandrolone or oestrogen. Even if you have previously declined the offer to participate, you may still be eligible for enrolment. The December deadline is fast approaching so if you would like further information, please don’t wait until your next clinic appointment. Contact your paediatric endocrinologist or the study’s Research Assistant (see below) now.
Emma-Jane Gault, 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
The following information appeared in SHOUT Magazine and we thought it might be useful tip for our younger members. A young girl with TS wrote to the agony column of the magazine saying that she felt abnormal because she would not go into puberty at the same time as her peers and would not therefore have breast development etc. at the same time as them. The reply referred the young lady to the TSSS for more information on TS and how to cope and meet others with TS and also suggested that she invest in a gel-filled bra – one that you can even wear under a tankini style swimming costume and no one would be the wiser. This seems good news to us and the answer to a lot of problems for some girls not only those with TS!
by Robina - Summer 2002
I was, I admit, daunted by the prospect of returning to study after many years of working and a history of relative academic failure at school. As with many TS children, attentional difficulties, repeated absences from the classroom due to upper respiratory tract infection and unsympathetic teaching and teaching methods (though in my case diagnosis did not come until decades later) blighted my early education. I did, in fact, attend college at an 'appropriate' age, but as a student of singing on a performer's course (although I did later obtain a teaching diploma): the study of basic harmony and simple composition, along with a little history, were the extent of the academic requirement of the course.
The access course I completed was tailored to degree courses in speech and language pathology and introduced me both to the disciplines of study and research and the concepts underpinning the theory of speech and language therapy.
Once at University, I adapted to academic life relatively quickly, though as I was living in halls during the week, major changes to the domestic routine were necessary which radically affected our marriage. My husband was supportive and encouraging - absolutely crucial to the success of any venture undertaken by one half of a partnership. The comforts of marital bed and board (if I may so express it!) were a blessing after a hectic week of student life and a Saturday morning job kept me in touch with the community in which we lived.
Clinical placements were difficult and demanding for me since (like many TS women) I struggle with long-term planning and organisation, and managing my own caseload is a major challenge.
Major illness at the end of my first year and beginning of my second year left me literally drained and shaky, but my tutors were understanding and I was able to complete all the necessary assignments. However, in the long term, accommodating medical testing and consultation in relatively complex cases of TS such as my own can be problematic and raises issues of disclosure and confidentiality.
Diagnosis empowered me and gave me confidence that I possessed the basic intellectual abilities required to complete higher education if life experience had taught me the necessary application and discipline! Well, it proved to be the case; I graduated in July. I must, however, retake one clinical exam before embarking on my new career. So graduation has been a bittersweet experience, leaving a sense of lack of closure and disappointment as well as pride and relief.
It has been a privilege to meet and form lasting friendships with other TS women from various universities and from a variety of backgrounds. We should be aware that higher education is theoretically accessible to all and is, I believe, a fundamental right. I feel that some of us are hampered by the low expectations of families, clinicians and teachers, which can result in low self-esteem and a certain lack of emotional maturity. Higher education will not be suitable for us all and is not of itself a rose-strewn path to future fulfilment; but perhaps more of us than is generally acknowledged do not fulfil our true educational potential.
Finally, I must thank all who participated in my dissertation, which explored the relationship between verbal and spatial skills in TS children. Results were not significant and cannot be generalised to the TS population in general, but findings were that there are only very slight and subtle differences between TS and mainstream children. Such a study would have been more appropriate as the initial phase of a long-term developmental study of TS and it is to be hoped that someone more experienced and with more resources than myself will continue work in this area. The little ladies were a delight to work with and their parents and siblings warm, interested and welcoming. Thanks.
[Ed’s note – Congratulations Robina on your success and your well deserved Degree. Your achievement through your hard work and determination is an inspiration.]
The following article was written and sent to us by Penny a year ago, immediately prior to the terrible events of September 11. Although we tried many times to contact Penny following the disaster we had no luck; we were very concerned. Fortunately our concerns were unfounded and eventually Penny made contact when she had settled back into the UK. We publish her article now as our way of marking the terrible events of a year ago and we are pleased that for Penny and her family there was a happy outcome to their time in New York.
“Eighteen months ago my husband was given the opportunity to take up a six month work placement in New York with his company. My husband, our sixteen month old daughter and I jumped at the chance and before we knew it we found ourselves at Heathrow boarding a plane for New York.
We arrived at our apartment with no less than fourteen pieces of luggage feeling both very lost and in total awe at the sheer size and scale of the Big Apple. We settled in fairly quickly but with my appalling sense of direction and my infamous problem of both left and right and North and South I got lost very often, even though all the streets are numbered and finding your way around is supposed to be really easy.
Since arriving here we have noticed several American peculiarities not least that the majority of Americans seemed convinced we are Australian and they appear to have as many problems understanding us as we do them. I regularly cause confusion by asking the dry cleaners if my trousers are ready for collection. I am generally met with a blank and worried expression – pants is the word used here! It took me two months before I got used to calling nappies, diapers and courgettes, zucchini. It is hard to believe sometimes that we speak the same language. They even tell the time and write the date differently to us.
Shopping and buying clothes over here is even more of a challenge than it is back home. Being just under 5ft clothes shopping is never easy and means poor old Mum gets a bag full of trousers and sleeves to shorten more or less every time I see her. Those so called Petite sections found in many shops are, in my opinion, just a fragment of designers’ imagination and are certainly not petite by my standards! In America I have the added clothes shopping problem in that the entire sizing system is different.
For many reasons, including becoming pregnant with our second child whilst out here, both my daughter and I have seen various doctors and specialists in New York. The general reaction to Turner syndrome from the medical profession over here seems to be fairly similar to that in the UK. In June I saw a genetic counsellor prior to having an amniocentesis. She was visibly shocked to be counselling a pregnant lady with Turner syndrome and was totally unprepared for me; she ended the meeting by thanking me for educating her about Turner syndrome. Although I appreciated her honesty and frank approach I do find it very frustrating that I seem to confuse and surprise every specialist I see, who invariably have no answers to many of the questions I ask.
Having said all that we have been over here since early March and are due to return in September. We have thoroughly enjoyed our New York experience and in many ways would love to be staying over here longer; we have seen and done an unbelievable amount over here and will always think of the last six months as one of the most fun and exciting periods of our lives. It is an incredibly busy and lively city that just buzzes with energy and excitement. We would advise anyone to come over and see it for themselves if they are given half the chance
Post script
Since returning safely to the UK Penny has given birth to a son Jack, a brother for Ellen. Belated congratulations and thank you for the giving us an insight to your brief sojourn as New Yorker.
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