Change Font Size
The story toolbox
Show all tools

Points for Reflection

1. What has been your experience of working with children and young people who have been diagnosed with a genetic condition?

2. What have you learnt from this story that you can apply to your practice?

Activities

1. How would you support a client with a genetic condition who wanted to discuss her reproductive choices?

2. Think about the way Stacey was asked by the practice nurse if she had ever had children. Discuss with a colleague how taking a reproductive history in those circumstances might be handled sensitively and practice doing that together using role play.

Quotes

"Initially I was quite happy with the diagnosis, but I do remember driving home from school when it sank in that there would be problems having children. I found that quite upsetting…"

"...on the positive side I feel I have achieved quite a bit, so that perhaps Turner Syndrome has given me a determination I might not have otherwise had."

"One thing that sticks in the mind is professionals asking me about pregnancies and children a bit insensitively when, as a woman with TS, I am unlikely to fall pregnant naturally."

"I try to make it change my life as little as possible, but it would be naïve to say I have been totally unaffected."

Further information

Turner Syndrome support Society: http://www.tss.org.uk/

Information Sheet from Guy’s and St Thomas’ Hospital on Turner syndrome for professionals and patients and families.

Child Growth Foundation: http://www.childgrowthfoundation.org./

Antenatal Screening Web Resource: AnSWeRhas other personal experiences of Turner syndrome.


Location: The Stories
Transcript

You can download the full transcript here

Stacey’s story: living with Turner syndrome
A condition caused by an imbalance of the X chromosome

How did you find out about the condition in your family?

I was at school aged about 13 or 14, and it all started when a PE (physical education) teacher noticed I had a tendency to walk pigeon-toed. I had always been a slightly awkward girl, perhaps not so quick to make friends as the others, clumsy and without physical prowess, so usually not one of the first to be picked for sports teams etc. I was often in a little world of my own.

From memory, what happened is that the sports teacher and the school nurse saw to it that I got seen by the doctor who visited school, and then a specialist consultant, who made the diagnosis of Turner Syndrome.

Initially I was quite happy with the diagnosis, but I do remember driving home from school when it sank in that there would be problems having children. I found that quite upsetting but I was with the school nurse who was a very comforting presence and remains a friend to this day, 18 years after I left school! (It was a boarding school, and I was there as my parents lived and worked abroad.)

How has it changed your life?

I try to make it change my life as little as possible, but it would be naïve to say I have been totally unaffected. I can still be awkward in some social situations but do have a large circle of friends and acquaintances now – it tends to be a lot of people I am in touch with who I don’t see that often, rather than a small, close circle of friends.

I have found relationships with partners very difficult, and only first acquired a boyfriend in my early thirties. It didn’t last long, although I have since met someone else. I can get stressed easily, find it hard to do practical things and organise myself and my time, and to plan ahead. I know that I can be very stubborn at times when I don’t get my own way!

However, on the positive side I feel I have achieved quite a bit, so that perhaps Turner Syndrome has given me a determination I might not have otherwise had. I did languages at university, a course which included a year spent teaching in Spain. I qualified as a journalist afterwards, and have worked for various local papers and for charities as a press officer. I am now a corporate copywriter.

I have spent three months in Central America and made month-long visits to Peru and Africa. I have jumped out of a plane, cycled across Cuba and been white-water rafting. This term I am starting an MA in creative writing.

What is your experience of the care you have had from the NHS?

On the whole it has been wonderful and I have no complaints. I feel very lucky. My GPs have been fine, although invariably some have been better than others, and I have seen a consultant every year since around 1995. I have quite bad hearing and so have had a lot of care to do with that. Nearly all of it has been excellent.

I see a consultant at a London hospital every year and I sometimes get frustrated that the queues and the waiting times are so long. You generally get seen an hour or two after your appointment time! Also it can be frustrating to see a different consultant each time, but I guess I just have to live with that.

Tell us about one experience that you remember, positive or negative.

One thing that sticks in the mind is professionals asking me about pregnancies and children a bit insensitively when, as a woman with TS, I am unlikely to fall pregnant naturally.

A nurse at the GPs’ surgery where I was registered asked me about pregnancies after she knew I had Turner Syndrome. I just felt a bit upset to be asked whether I had ever been pregnant, and this revealed a real lack of understanding about the condition. As you appreciate, it is a hugely sensitive issue.

How can we improve care for you and your family?

I think education for all health professionals about TS and related conditions is hugely important.

If anything could be done to tackle the situation I face, whereby I see a different consultant each time, and face long delays before seeing them, adding to the stress of the appointment, that would be wonderful. I also often feel very rushed, which is not great. But I also appreciate the NHS is under a huge amount of pressure.