What Turner syndrome is like for me

Kylie tells us about her life with Turner syndrome, a chromosome disorder that is thought to affect 3,000 women and girls in the UK

Tell me a little about yourself

I’m 22, and I’ve just started a new job today, as a nanny, for a one-year-old and a five-year-old. They’re gorgeous. I love being a nanny.

What is Turner syndrome?

It’s a genetic condition that means one of my X chromosomes is completely missing. For me, that means I’ve got an underactive thyroid, lymphoedema in my left ankle, mild learning difficulties. And obviously the infertility.

When did you know you were affected?

Ive always known. Mum and Dad got the diagnosis at birth and the words Turner syndrome were always around me when I was young and growing up. My Mum set up the Turner Syndrome Support Society when I was born, and she was always happy to answer questions when I asked, What does it actually mean? She explained my eggs and ovaries weren't working. It really helped having a strong relationship with her and being able to ask her about it.

What do you understand about the medical causes?

There’s no reason, it’s an accident at conception, when all the cells are divided up. One of the X chromosome goes missing. I’ve got 45 chromosomes in every cell instead of 46, so a whole X chromosome is missing. That’s called classic Turner syndrome. Other women have mosaic Turner syndrome, which means that only bits of the X chromosome are missing, and they some normal cell lines. Everyone has a different karyotype [the characteristics of the chromosomes].

If you do, how do you explain/describe your condition to other people?

If anyone asks, I tend to say that I’m a little bit small and I’ve got some learning difficulties, but that it’s well managed and I deal with it well. I told my new employers about it today, but on the whole how much detail I go into depends how close I become to someone. I might tell them about the infertility when I get to know them well, but not straight away.

How does it affect your life?

Day to day, I’m just like anyone else. I have some problems with short-term memory and concentration, but I’ve got strategies to deal with that. I carry a notepad so I can write down anything important, I also have to take medications, like thyroxine for my thyroid. Most days I’m fine.

What is the most difficult thing about being affected by Turner syndrome?

The infertility.

Is anyone else in your family affected?

No one else in my family has got Turner syndrome. I’ve got one big sister, Carlene. I’ve got a good relationship with her, we’re very close. She says she just sees me as her little sister, not someone with Turner syndrome, but sometimes it’s highlighted to her because I spend time away doing things for the Turner Syndrome Support Society.

Are you a member of a support group?

My mum runs the Turner Syndrome Support Society and I’m very involved in that. I’m on the committee and I attend events all around the country and the world. I’ve been to conferences in Australia and Denmark.

 

The essentials  Turner syndrome

How common?

Around 1 in 2,000 live female births affected; many affected pregnancies end in miscarriage

Major effects:

Short stature, non-functioning ovaries. Other features vary between patients but can include learning difficulties, sight or hearing problems, and kidney problems

Causes:

The complete or partial absence of an X chromosomes in some or all cells, meaning that affected women have one X chromosome instead of two.

  • Classic Turner Syndrome involves having just one X chromosome in all cells. It occurs when the egg (from the mother) or the sperm (from the father) is missing an X chromosome
  • Mosaic Turner Syndrome occurs when the complete or partial absence of an X chromosome occurs in some cells in the body but not others. It is caused by errors in cell division after conception

Is it inherited?

No, cases are usually random, and not related to maternal age or behaviour

Is a prenatal genetic test available?

Prenatal diagnosis often made through chorionic villus sampling (testing a piece of the developing placenta), amniocentesis or ultrasound.

Further reading

About this resource

This resource was first published in ‘Genes, Genomes and Health’ in January 2010.

Topic:
Genetics and genomics
Issue:
Genes, Genomes and Health
Education levels:
16–19, Continuing professional development