Rare Diseases : Turner Syndrome

“I was diagnosed with Turners Syndrome at around 10 or 11 after my parent pushed for myshort stature to be investigated.

Looking back, I had all the signs in early childhood most notably I was sickly as a infant which I think can now be attributed to the feeding problems that can occur in TS.  I also had the classic ears nose and throat problems having my tonsils and grommets put in my ears at age seven after having almost constant ear infections and tonsillitis.

I also was clumsy lacking the fine motor coordination that can occur in TS and was hopeless at PE and games.

Luckily, I  was diagnosed in time to be put through puberty as when a girl fails to go through it naturally this can be because the girl is unable to produce the female hormones due to absent or non- functioning ovaries.

My generation was unable to benefit from the  growth hormone treatment that is available today which makes such a difference to the girls today. Also, there was no Turners Syndrome Support Society to turn to or the knowledge that is around today.”

In partnership with members of Rare Disease UK we will be featuring blog posts about rare diseases from the point of view those affected by the conditions.

Today the focus is on Turner Syndrome, a chromosome disorder that affects 1 in 2,500 girls.

According to the Contact a Family Directory,  this is one of the most common chromosome disorders and is where the second x chromosome being missing or abnormal.  Turner Syndrome only affects girls and “is generally characterised by short stature and non-functioning ovaries, usually leading to the absence of pubertal development and infertility”  (Contact A Family Directory 2010, p981)

To find out more about Turner Syndrome check out the Contact A Family Directory page here  http://bit.ly/oX9SQg

You can also access information and support from  the Turner Syndrome Support Society here http://www.tss.org.uk/ where there is lots of useful information about the condition and resources for those affected like fact sheets and checklists to take to your medical appointments.

“Before I start, I’d just like to give you a brief background about the society.

The TSSS (UK) was formed 11 years ago after breaking away from the CGF as it was felt that the TS group within the CGF was getting too large and that it would make more sense to become an independent charity. We currently have around 800 members, we send out 4 newsletters a year, hold 4 open days a year and hold an annual conference and have numerous fundraising events. The society offers advice and support to both girls and women with TS, their family and friends and provides accurate and up to date information on TS and the many aspects of living with the condition on a daily basis.

When I attended the International Conference in Copenhagen in 2009 I was extremely proud to realise that the TSSS (UK) has far superior literature, more members and more up to date research than any other country represented there.

I became a committee member around 9 years ago and I am the first, but I hope not the last, woman with TS to be Chair.

So, I was diagnosed by GOSH at the age of 10 after under going numerous blood tests and visits to firstly my GP, then my local hospital and finally GOSH, after a primary school teacher picked up that I wasn’t developing the same, physically, as my peers. Up until this time we, as a family, were not aware that there was anything wrong. Both sides of my family are generally small so I didn’t really “stand out” within my family as physically any different. My parents were told the diagnoses by a specialist and then told to take me home and in my own environment tell me. There was very little information available at the time (32 years ago) so for my parents this was a mammoth undertaking bearing in mind that they had just been given this devastating piece of news about their daughter that they were struggling to come to terms with themselves. I remember at the time feeling a bit put out that I wasn’t included in

the conversation between the consultant and my parents and was sat outside the specialists door at the hospital knowing that they were in the consulting room talking about me.

My Dad told me very soon afterwards using words and in a way that was appropriate to me. My Mum understandably felt that she couldn’t tell me without getting very upset which would not be good for me. For me I have always felt that how I was told, on the whole, was positive as it was in my own environment and by someone I trusted so I ended up feeling special and that this was not such a bad thing or anything to be ashamed of or be unduly worried about and that I had something no one else had! Although for my parents I know it was an incredibly difficult time and very hard on them. The major difference being I guess is that for me I got to learn gradually about TS as I got older and at an age appropriate time where as my parents had it all in one hit!

I attended main stream school and went onto college for a year afterwards regularly having time off school and college to attend hospital appointments. I went on to attend GOSH until I was 17. The hospital appointments followed the same pattern each time. When I arrived I went to the main reception desk to “sign in” and I was then sent on into the waiting room. I was then called through to a long corridor and asked to wait. I was then called in to another room where I was weighed, my height was taken and then they measured the length of my bones in my leg and arm, took the circumference of my head, the tops of my leg and the top of my arm, they also took a measurement of the fat from the tops of my leg, arm and back. This was all recorded on a graph within my notes so that comparisons could be made from previous visits to establish what, if any, growth or changes had occurred in the previous 6 months. I then went onto x-ray to have an x-ray of my left wrist taken. This was to establish bone

growth. Then it was back into the corridor to wait to be called into the consultant. The consultant then spoke to my parents and I about the results and how I had been since the previous appointment. We also went on to discuss the medication that I needed, whether to change it or to carry on with the same dosage if it was suiting. Then we were able to ask any questions or raise any issues that we had. We generally saw the same team which, for me, was very important. It made me feel so much more comfortable, in this very sterile, unfamiliar, scary, environment to see a friendly face. I remember feeling very nervous the day before an appointment, being very quiet on the day of the appointment and a bit down on the day

after. At the age I was it was a very daunting thing to go up to such a large hospital and to be examined in the way I was and to be “talked about”. Seeing the same team made this easier. You are also never quite sure what the results will show up or what the consultants are going to say so that plays on your mind as well.

I had a lot of problems as a young girl with “ear, nose and throat”. This is particularly common in girls who have TS with about 80% of girls turning up in ENT departments. So any young girls with persistent ear, nose, throat problems should be checked for TS. I was in hospital at 6 to have my tonsils out and had constant ear infections and tonsillitis. My doctor at the time did not want to take my tonsils out and my Mum ended up going to another doctor within the same practice to get this done as I was missing a lot of school and it was happening time and time again. I now wear two hearing aids as I have quite bad hearing loss in both ears.

Once I turned 17 GOSH discharged me to the care of my GP. At the time (25 years ago) there were not the clinics around for me to be referred onto. Whilst GP’s can continue to prescribe the medication needed and do any blood tests required most GP’s would not then know how to translate these results to a patient with TS. They may only ever see one patient with TS in their medical career so obviously can not be expected to have this kind of expert knowledge on what the results mean and what care/checks the patient would need.

This is why it is so important that the girls once they have gone through paediatrics and are at an age where that is not the appropriate place for them to be go on to adult clinics and that this transition goes as smoothly as possible. A lot of girls and women with TS do not cope very well with change unless they are fully prepared before hand. Transition needs to be fully discussed with the patient and planned for for this to be successful.

It is very important that the girls do not slip through the net when they are adults as TS does not go away once you are 18 and the health checks and health care are needed right from cradle to grave.

So, at the age of 17 I was then under the care of my GP until, having been advised by the CGF, I asked for a referral to a TS clinic. My GP at the time did not agree with my request for a referral but after going to anther GP in the same practice I was referred to Walsall Hospital in Birmingham. Living in Wales this appointment meant a day off work and a 5 hour round trip as, at the time, there was not a clinic in Wales for me to attend.

I started at this clinic when I was 22 and then received the checks necessary as recommended by the TSSS health check list and we took the appropriate action to make sure that I stayed

healthy and well looked after. But thus meant that between the ages of 17 – 22 I was not having the checks and tests done that I should have been. I was just really seeing my GP for a repeat prescription which I know now because of my links with the TSSS is far from ideal.

This clinic, unfortunately ceased when the consultant who was running it went on to pastures new but, I am now attending the endocrine clinic in Abegavenny which is a lot nearer to home and I receive a good level of care.

Well that brings me to the end of my story so far. Thank you so much for listening and giving me this opportunity to talk to you and I hope that you found it of interest. Thank you”

Rare Disease UK (RDUK) is the national alliance for people withh rare diseases and all who support them.  We believe that everyone living with a rare disease shold be able to reecieve high quality services, treatment and support.  You can find out more about the work they do or how to join here http://www.raredisease.org.uk