The Turner Syndrome Contact Group of South Africa Is a non-profit organisation for women and girls with Turner Syndrome, and for their families.
The Quick and Easy Guide to Turner Syndrome :
- Is your daughter much shorter than other children her age?
- Did she have puffy hands and feet when she was born?
- Does she have extra skin on both sides of her neck (known as webbing)?
- If she is a teenager, did she develop breasts late or not at all?
- Did she not start her menstrual periods or did they stop?
- Are you much shorter than other women?
- Did you fail to develop breasts or start your menstrual periods at the same time as other girls your age?
- Did you develop breasts and begin menstruating, but your menstruation stopped while you were still a young woman?
- Do you, or did you have extra skin on both sides of your neck (known as webbing)?
- Have you found it difficult to fall pregnant?
If you answered yes to any of these questions you, or your daughter, could have a condition known as Turner Syndrome. Even if only some of these features exist, you or your daughter may still have Turner Syndrome. Take this information to your local hospital or doctor, and suggest that a test be done for this condition.
Why should you do the test?
The test is easy. It involves drawing a small amount of blood, which will then be tested over three weeks. If you or your daughter is found to have Turner Syndrome, it is much better to know. Girls with Turner Syndrome live as long as everyone else. They can also live completely normal lives. But they need to be checked completely by a doctor who knows about the condition. This is because these girls and women can be at risk of certain medical conditions - all of which can be managed and treated. But doctors need to know that they should check for these.
What causes it?
Turner Syndrome is caused by a small accident of nature. It happens quite by chance and one in every 2 500 girls will have the condition. Every part of your body is made up of many millions of tiny cells, too small to see without a microscope. Inside each of these cells are our chromosomes. The chromosomes set out the plan or blueprint of every human being. They make us all similar in many ways, but also make each of us unique.
Among our chromosomes are our sex chromosomes. These make sure that we develop either as a woman or a man. Men have and X and a Y chromosome, while women have an X and another X. Girls with Turner Syndrome are born with only one X. This does not make someone with Turner Syndrome any less of a woman. They are just as much a woman as anyone else.
Is it your fault?
No, it is not anyone's fault. It is usually not passed on by either parent. When the baby is developing from a fertilised egg into a foetus (a developing baby) in its mother's uterus, the cells which form the growing baby drop one X, or part of an X. The baby then continues to develop with only one X in her cells. If the cells only drop the X after the baby has started to develop, only some of her cells may be affected. She is then said to have a mosaic form of Turner Syndrome and she will probably not have as many signs, and will not be as much affected by the condition as girls with full Turner Syndrome. This condition only occurs in girls since every human being needs at least one X to live. If the cells of a boy baby drop an X, he would be left with only a Y. He would die before being born.
What does it mean to have Turner Syndrome?
Women with Turner Syndrome are much shorter than most other women. As an adult, the average Turner woman will be around 143cm (4ft 8in). Some Turner women are shorter, and others taller than this, depending on whether their parents are short or tall. Growth hormone may make these girls taller, and can sometimes even shift their height into the normal range if started early enough, and if they respond well to treatment. This is an expensive treatment and is generally not provided for TS by provincial hospitals. However some medical aids do pay for it. Ask your doctor to refer you to an endocrinologist at a hospital or in private practice, to ask about this treatment. Even if these girls are small, they can live and work as successfully as other people.
Their ovaries, which produce the hormones that cause them to enter puberty, often stop working early in life. They can be given the correct hormones to develop breasts and periods. These should only be prescribed by a doctor who knows about the condition. Most women with Turner Syndrome are infertile. They should discuss their options with their doctor or with someone from the support group (see contact details below).
Girls and women with Turner Syndrome can have heart defects, kidney and urinary tract problems. They may also develop diabetes or have low thyroid levels. These are all treatable. Many women with Turner Syndrome become overweight. They need to discuss their options with their doctor. They should also be careful to eat healthy food and exercise regularly. These women can be shy and withdrawn, because they are often teased about their size. Their growth problem sometimes causes them pain. This can make them unhappy or depressed. It can also lead to difficult behavioural problems in teenage girls. These should be discussed with a doctor or the support group. They may also be referred to a psychologist or social worker.
These girls are of normal intelligence. They have the ability to do as well in school as any other child. But most suffer from some learning difficulties. This can make it hard to learn to write as neatly or as quickly as other children. They may find it hard to focus or concentrate on schoolwork, and they may also find maths hard. Not all Turner Syndrome girls have these problems. They can be largely managed over time with good teaching and other options. Severe concentration problems can be treated with drugs such as Ritalin. Extra maths and remedial teaching provide invaluable help. These options can be discussed with your doctor, teachers and the support group.
Other signs to help you recognise Turner Syndrome.
Women and girls with TS tend to have a wide carrying angle of the arms (Figure 1A).This means that when they hold their arms at their sides, with their elbows touching their sides, their hands stand away from their bodies. Girls with TS can have low hairlines at the back of their heads (Figure 1B).
Figure 1
Their ears may be slightly lower than those of other girls and their jawbones may be slightly less prominent (Figure 2A). The nails on their hands and feet tend to turn up slightly (Figure 2B).
Figure 2
Their eyes may have a downward, rather than an upward tilt and some girls with TS have a droop to one or both eyes. This can be corrected by plastic surgery.
What does The Turner Syndrome Contact Group of South Africa do?
Our main task is to provide support. Over the years we have existed, we have been able to provide help not only to girls and women with TS, but to their parents as well. Research has shown that counselling works more effectively when carried out by someone in the same boat.
A number of our committee members are trained crisis counsellors. We have found that people have different need of support at different stages. There are times when they withdraw from the group - everyone just wants to be normal sometimes. But we will still be there if they hit another rocky patch.
One of our most important functions is to provide information to news-hungry members. When someone is diagnosed for the first time, their families have an insatiable need for information on every aspect of the condition. We keep up-to-date on the very latest research and information worldwide. We attend the international conferences and write up full report-backs for our members and health professionals, including every paper given.
We also have a full support team of health professional available, to whom we can refer queries and concerns. Education is one of our strongest functions. We give workshops to GPs, teachers and nursing sisters. We are also called upon to speak to Wits medical students on the condition and the issues faced by Turner-affected families. We try to add to public knowledge by getting as much publicity for the condition as we can. Our newsletter tells members about events and information, research and group activities.
We also work to unite Turner women, their families, and the medical profession. Turner women need to manage their conditions holistically in a way that best suits their lifestyles. To do this, health professionals need to understand their needs and the issues important to them. To our 300-odd families - a number that grows every year - we are an essential link with whom they can share problems and solutions. We give advice on treatment and medical care and help everyone work towards building our girls and women into strong, confident people capable of taking their economically independent place in society - without discrimination, and without debilitating emotional problems.
Contact Details:
Gauteng Chairperson: Jo-Anne Richards
e-mail: josierichards@gmail.com
Cell: 082 453 2591
Tel: +27 11 717 4081
Address (Postal and Physical): 3 Denbigh Rd Parkwood, Johannesburg, 2193, South Africa.
Kwazulu/Natal Chairperson: Collen Jacobitz
Tel: (031) 837181
Western Cape Chairperson: Ms J Kockott
Address: 12 Orlando Place
Edison Drive
Meadowridge
Cape Town
7806
Tel: (021) 7129183
Cell: 076773405
e-mail: janemaryk@mweb.co.sa
Support Professionals
Genetic Counselling
This will help you to understand the condition and how to deal with it. It is open to anyone. It is provided free to those without medical aids. Clinics exist in Johannesburg, at the Johannesburg Hospital, Baragwanath, Coronation Hospital and the Donald Gordon Medical Centre.
Appointments at any of these clinics can be made through Zain on
27-11-489 9224 or by e-mailing her on zain.jakoet@nhls.ac.za
Clinics also exist in Bloemfontein (27-31-405 3047),
Cape Town (27-21-406 6337 / 6297) and Durban (27-31-719 6556).
Paediatric Endocrinologist, Dr David Segal: 27-11-712 6000.
Fax: 27-11-728 6661.
Fertility and Gynaecological issues
Dr Lawrence Gobetz 27-11-82 452 1161. Mail him on lawgob@mweb.co.za
Social Worker
Jennifer Gobetz 27-11-83 267 6800
Any other medical queries can be sent to the chairman Jo-Anne on josie@pixie.co.za . We will refer them to an appropriate professional where possible.
Assisted reproduction technology (ART)
Please could you help Colleen Qvist with her MBA research on assissted reproduction technology (ART). She is looking into, among other things, who the consumers of ART believe should foot the bill for ART in South Africa - the government, the medical aids or the patient?
Please read the following letter , and fill in the survey at www.infertilitysurvey.co.za or contact Colleen Qvist at colleen@infertilitysurvey.co.za . Alternatively, fax your details to Colleen at 086 612 9470.
Turner Syndrome Resources
The following are pamphlets (PDF format) with information on Turners syndrome in different languages. Please click on the relevant links for the appropriate language.
IsiZulu Sepedi Sesotho Setswana Tshivenda Xhosa XiTsonga
Turners Syndrome and You Booklet (1.7Mb, Pdf format)
Please click the following links for the following:
2005 Turners Syndrome Support Group AGM Welcome
2005 Turners Syndrome Support Group Chairpersons Report
2005 Turners Syndrome Support Group Newsletter
2004 Turners Syndrome Support Group AGM Welcome
Summary of the International Turners Syndrome conference
The International Birth Defects Information Systems (I.B.I.S) The International Birth Defects Information Systems (I.B.I.S) is a multi-lingual website dedicated to promote better care, wellbeing and prevention of malformation and developmental disorders through information sharing.
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Medical Genetic and Counselling Services
To find out more about genetic counselling, click here. To find out more about genetic counselling clinics, please contact Mrs Zain Jakoet on the following.
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The Department of Human Genetics, University of the Witwatersrand The department of Human Genetics at the University of the Witwatersrand has published information on the commoner genetic disorders in South Africa. Please click here for more information. |
The South African Society for Human Genetics The Southern African Society for Human Genetics (SASHG) is a non-profit organization for health care professionals involved and interested in Human or Medical Genetics. Please click here for more information. |
