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Points for Reflection

1. Abi believes that because she was not diagnosed until her late teens, she was able to grow up normally and that this has enhanced her ability to live a satisfying life. Think about the ways in which her life might have been different if she had been diagnosed earlier.

2. What does this tell you about the needs of a family when a child is diagnosed with a chromosomal abnormality at a young age, perhaps even during pregnancy?

Activities

1. What sort of information do you think you would need in order to help someone like Abi understand her condition better? Find out where you can obtain this information.

2. Identify the best sources of support in your own region for girls and women diagnosed with Turner syndrome so that you could signpost your clients to them.

3. How would you help support a woman with Turner syndrome who believes that a regimen of hormone treatment is appropriate for her own situation?

4. Investigate the options that a woman with Turner syndrome might have if she and her partner wish to have a child?

5. Outline how you would advise a junior health professional as to how they would make an appropriate referral to genetics services for someone like Abi.

6. If you are interested in the issues around Ďlabellingí, read Bethanyís story; "We did not put limits or labels on him": Fragile X syndrome.

Quotes

"In reality except for the obvious issues of my size and not being able to have children, Turner syndrome has not affected my life greatly. It is just a small part of who I am."

"One point I remember is that after 4 years I plucked up the courage and went to a conference for Turner syndrome. After reading all the information, I wondered what the conference would bring and was a little apprehensive but I neednít have worried. It was lovely to meet such a friendly and considerate bunch of women."

"Ömy health care could have been improved if more information had been given at the very start so I would not have been left to look for information alone in an attempt to understand what we had just been told."

Further information

Turner Syndrome support Society

National Genetics Education and Development Centre - Turner syndrome

NHS Evidence: genetic conditions briefings - Turner syndrome

US National Library of Medicine, Genetics Home Reference - Turner syndrome

AnSWeR - the Antenatal Screening Web Resource - has other personal experiences of Turner syndrome


Location: The Stories
Transcript

You can download the full transcript here

Turner syndrome is just a small part of who I am
Abiís story: living with a condition caused by an X-chromosome imbalance

I was taken to the doctors by mother when I was 16 as I had not developed and I was very short at 5ft tall. This was especially noticeable as my whole family, including my twin sister, are all tall. Finally at age 18 I was diagnosed with Turner syndrome. The hospital consultant could have been more helpful. He simply explained that I would remain short and that it would mean I could not have children and that there was nothing they could do about that!! He would not tell us any more details. As you can imagine, this lead me straight to the library where I looked up all the details. In a lot of ways, at this point, I was pleased I had almost grown up when I was diagnosed as the information I read mentioned people with the condition being mentally retarded so knowing that I had achieved reasonably well academically in school helped put these worries behind me. Similarly, for the other problems mentioned as associated with Turner syndrome, I was old enough to form my own opinion that most of these did not apply. A few months later, after requesting the appointment we saw a genetics specialist and he explained more regarding Turners; he was sympathetic and could answer our questions - a much better experience.

In reality except for the obvious issues of my size and not being able to have children, Turner syndrome has not affected my life greatly. It is just a small part of who I am. I have been to university, work full time and am married; I generally live life as normal with my family, husband and a good group of friends. I think that this is in part due to the fact that no one knew any different as I was growing up and so I was treated the same as others in my family at all times.

One point I remember is that after 4 years I plucked up the courage and went to a conference for Turner syndrome. After reading all the information, I wondered what the conference would bring and was a little apprehensive but I neednít have worried. It was lovely to meet such a friendly and considerate bunch of women, all of whom were very welcoming and good company. I havenít told many people regarding Turnerís as there has been no need, but it was nice to discuss things with people who understand.

In general I have received good care. However my health care could have been improved if more information had been given at the very start so I would not have been left to look for information alone in an attempt to understand what we had just been told. Also I think some more training for doctors may be beneficial as some know very well what is needed, but many doctors do not. For example I had to ensure that I received HRT, my doctors did not arrange any treatment for me and it was only through my reading that I realised this should have occurred.