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Contents
A Fundraising Thought
Sound Familiar
Research
Although no one likes to contemplate death, a legacy is a long-term effective way to help the TSSS. At death, unless the value of the deceased’s estate is less than £234,000 or is transferred to the deceased spouse, some part of the estate is likely to be lost purely in payment of Inheritance Tax. The current rate is 40%! Outright gifts to Charities such as the TSSS are totally exempt from Inheritance Tax. The following few words added to a new will or codicil to an existing will, are all that are required for the Society to benefit in the future. “I hereby bequeath to the Trustees of the Turner Syndrome Support Society [registered Charity 1080507] the sum of £..........and the receipt of their Treasurer or other proper officer for the time being shall be a good discharge for my Executors.”
[The wording can also be adapted to cover the gift by will of the Testator’s residue or a share thereof.]
Worth thinking about at least – no one likes the thought of the tax man getting their hard earned pennies!!!!
There are of course other more fun ways to raise funds do contact Arlene in the office for a list of ideas or refer to the list in ASPECTS Vol 1:Issue 6 March 2001
As always the Editor is 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 painful experiences but in doing so it can give hope to others Amy writes about her experience of genetic counselling.
Kate, my second daughter was born on a sunny June afternoon. I was delighted, a beautiful baby girl. Following emergency surgery after an earlier miscarriage, I was not sure if I would ever have another baby, so this was a very special time for the family. When she was born I noticed that her hands and feet were very puffy and swollen. She was also a very grey colour. I was told this was due to poor circulation in the womb and that she would ‘pink up’. During the first hours of her life the swelling got worse, so a Paediatrician was called. The paediatrician said he wanted to do some tests.
The next day all the tests were complete and my husband and I went to see the consultant. We were given the diagnosis of Turner Syndrome [TS]. We were confused, we had never heard of TS. I can remember every word that was said. To discover that your child has a chromosomal abnormality is traumatic enough, but when it is something you have never heard of before it is even worse. Kate was transferred to the special baby care unit because of her feeding difficulties. I was in a ward without my baby and my husband was at home, it brings tears to my eyes when I remember back to the total isolation and devastation I felt.
Kate and I were discharged a week later and she had regular check ups with the paediatrician. I began to learn more about TS and I was always asking questions. When Kate was six weeks the doctor gave me the address of a support group. After six weeks of worrying, it was such a relief to find that there was such a group. When I read the booklet I was sent a lot of things made more sense. I still had a lot of questions that no one seemed to be able to answer. Why me? Did I do something wrong? Could I have done something to prevent this happening? If I had other children would they have Turner syndrome?
During the first few months of Kate’s life I feel I wasted so much time feeling distressed and that I missed out on a lot of the joy of being a new Mum. The hospital was as helpful as they could be, but there never seemed to be enough time for anyone to talk to me.
Because I kept asking questions, it was suggested that I see a genetic counsellor. An appointment was made and when the letter arrived it was friendly and unthreatening, asking us to be prepared to answer questions on our family history if possible. We were also told that the appointment would be at least an hour long. So we looked forward to it and learning the answers to the many questions that we had.
We decided to travel south to attend a conference about TS but although helpful, I felt the turning point was following our genetic counselling. During the appointment we were given a full explanation of how chromosomes work, what is thought to happen in TS and an explanation of the difference between Classic and Mosaic TS. We were fortunate that Prof. Michael Connor who was head of the genetic department gave us the counselling. He took time to answer all our questions and concerns. He drew some diagrams and showed us photo, it is amazing how much clearer something becomes when someone takes the time to explain the condition fully. Every point he made was quite clear; he was honest when he did not know. He came across as genuinely interested in our concerns. He explained that we were at no increased risk of having another baby with TS. He showed us the features that Kate had that were typical of TS. When I told him that I had attended a support group meeting in Birmingham, and was disappointed that there was no support in Scotland. He suggested that I start something in Scotland and he said he would help.
I took him at his word and we held the first Scottish TS meeting when Kate was six months old. Thirteen years on the Scottish group continues to meet four times a year. Prof. Connor spoke at our tenth anniversary meeting, where Kate was able to answer questions about her chromosomes. Her understanding of her condition has come from the understanding that we gained from our Genetic Counselling. Because of my personal experience I feel strongly that if patients are diagnosed as having Turner syndrome or indeed any genetic condition they should be referred for genetic counselling. It should make all the difference to them as a family. I also speak from the experience of talking to members of the Turner Syndrome Support Society. When they phone and tell me they do not understand TS I always tell them how I benefited from genetic counselling and that they might too. They should be offered it automatically, but if not they should ask to be referred.
Parents who receive an in utero diagnosis of TS have an even greater need to see a geneticist. This is aptly described in the article in the BMJ in February 2000 [BMJ 2000;322:463]. I am that concerned that babies with TS are possibly being aborted as a result of inadequate information being given to the parents. Are they making an informed choice or are they terminating because they are being given inaccurate, out of date information?
This is the original article, an edited version was published in the BMJ 2001;322:1005-1006 [28 April]
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.
This multi-centre study, on behalf of the British Society for Paediatric Endocrinology and Diabetes (BSPED), continues to recruit subjects. To date, 73 paediatric endocrinologists and paediatricians have offered their support and 56 girls have been recruited. The recruitment period will end in December 2002 by which time a minimum of 100 girls will be expected to have been recruited.
The study, rather than testing newly discovered growth promoting treatments for Turner’s syndrome (TS), aims to “fine-tune” existing therapies. The benefit of growth hormone (GH) in the treatment of girls with TS as a group is not in question in this study and all enrolled girls receive a standard, current “best practice” dose. The study does aim to examine, however, the effect, if any, of the additional use of oxandrolone (a mild steroid, currently used by many paediatric endocrinologists to treat TS) and the timing of oestrogen induction (needed by the majority of girls with TS for pubertal development) on final height (FH).
Girls are randomly allocated to one of 4 treatment groups:
GH, oxandrolone, oestrogen at 12 years
GH, oxandrolone, oestrogen at 14 years
GH, no oxandrolone, oestrogen at 12 years
GH, no oxandrolone, oestrogen at 14 years
“Dummy” or placebo tablets are used in the study so that neither the girl and her family, nor her doctor will know to which group she has been allocated. This information will be made available to families and doctors, however, at the end of the study.
Girls with TS are eligible for enrolment if they meet the following criteria:
aged between 7 and 14 years currently receiving growth hormone or just about to start treatment
no previous treatment with oxandrolone or oestrogen
“growing ends” of bones still “open”, ie still growing
no major illness
If you and your daughter are interested in taking part in the study and would like further information, please contact your paediatrician/paediatric endocrinologist or Emma-Jane Gault, Research Assistant for the study, for details.
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