My family returned from Ireland when I was 10/11. My sister who is four years younger than me was already taller than me at this point. My mother became aware of growth disorders and took up her concerns with the school nurse. I was referred to a hospital in London and was diagnosed with Turner Syndrome.
One thing that was important was the day I was diagnosed my mother asked the doctor if there was anything I should not be told - at least at that time. I was sent from the room while my mother was told the full extent of the condition including the fact it meant I am infertile. Even though she told me several months later, it has meant that I have never really ever felt fully able to trust my parents or feel respected by them to this day, although I know they did what they thought was best at the time.
On a health level I have been on HRT since I was 13 and will probably remain on it for another 15-20 years. I also have regular trips to the GP, have an annual visit to the TS clinic in London (and need to arrange time off work for these!). I also have some related health issues such as Hypothyrodism.
Practically I am five foot tall (my sisters are 5’10") which can affect people's perceptions of me at times. Knowing I am infertile has meant I have found fulfilment in other areas of my life. I also have felt not a desirable woman to men so have not started dating until recently.
Emotionally I have felt since my diagnosis that I don’t have full control of my body. This is due in some part to the fact I have had to be on various medications for so long but also because I had heavy intervention from doctors at an important stage of my life (see below).
On the positive side I have made friends with many other women with TS who have become some of my dearest friends. I also appreciate the insights into perceptions of gender that having the condition has given me.
When I was a teenager I was put on HRT to put me properly through puberty. The doctor who treated me used to examine how I was ‘coming along’ in front of a group of medical students and this made me feel a big distance from my sexuality (thus not feeling like a ‘proper’ woman).
The clinic I attend now in London is great and does a good job of looking after all the various issues that occur with TS – however it was difficult to persuade my GP to refer me! GPs are a mixed bunch.
About 18 months ago I attended my TS clinic and was ambushed by the clinician into answering very sensitive questions around relationships and sexuality which while well intentioned, should not have been asked in the particular context and should have been given more time for discussion.
How to improve genetic education? Educate GPs about conditions! Also increase sensitivity around gender issues with this condition with TS clinics and keep continuity of care.
One thing I would add to my diagnosis story is that it was harder for my parents finding out than it was for me which is often the case because of their concern as parents for their child (my Mum was in tears when she told me, whereas I was relatively unemotional). This may have added to my later perceptions of TS as something that others find tragic and hard to deal with. Also in my experience of talking to my friends, children are often able to take in things that doctors would not assume they would.
I discussed my diagnosis with my Mum - it was during a school medical at my first year at secondary school that the school doctor took up my Mother's concern about my height, although it had been noted the year before at primary school (but in the year following that, my Mother had seen a drama about a girl with a growth defect- not TS)
Sian later adds these responses to her story:
How helpful was the school nurse? Could the nurse have done anything more?
The nurse did exactly what she needed to do - namely measure me and see that I was below the height I should have been given my parents height. She then got me a referral to a paediatric clinic which was able to run the tests to find out why I was short. So there wasn't anything I can think of that she could have done. One thing that is a concern is that the Institute of Paediatrics has been trying to limit the amount of times children get measured throughout their early years, which could lead to children missing out on vital early diagnosis.
You talk about peoples' perceptions in relation to your height - could you explain a little bit more? What reaction they have to you and how that impacts you?
I am lucky in that at five foot, I am at the taller end of TS. However there are still moments! At the nicest level it leads to gentle ribbing (one friend calls me her 'little friend' and my youngest brother calls me 'shorty'). At a deeper level, I often feel that some people don't take me seriously because I am short. I certainly had one manager who was very hostile towards me and my height.
I really notice others attitudes when I am out with my other TS friends. We often get stared at and sometimes (thankfully rare) get comments (such as 'Hi Ho, Hi Ho).
GPs - please clarify any positive and negative experiences you have had of them (I know you have mentioned some but if there is anything else you would like to add, please do so).
It took me about three years to convince the GP to refer me to the clinic I am currently under because the hospital was not in their catchment area (and the care I received was considerably inferior). There is a lack of understanding among GPs about how complex TS is in terms of what areas of your health can be affected. My current GP is probably the worst case of this I have experienced and seem to wants to get me in and out asap!
You talk about gender issues - please clarify for me (I know you have mentioned some of them but is there anything else you would like to add, make people understand?)
First: There are issues around being an infertile woman in a society where there is a lot of emphasis on parenthood and becoming a mother. Being infertile is perceived as tragic and something that you need to overcome.
Second some textbooks still describe TS as a form of hermaphroditism when it is certainly not! This often affects the way TS is talked about (for example Germaine Greer says unless you have 2 hermaphroditism X chromosomes (TS women have 1) you are not a proper woman.
Third:The vast majority of doctors who deal with girls/ women who have TS are male. Girls with TS are usually put on a form of HRT to put them through puberty.
Fourth: All these issues lead to many women with TS to feel less feminine than other women (this is my experience of other women with TS).