ASPECTS

March 2004

Contents
Adult TS Checks & Clinics
SOUND FAMILIAR?

Adult TS Checks & Clinics

The Society has produced an information leaflet for women with TS who do not attend a specialist TS Clinic. The leaflet is for guidance only but outlines the health checks that women need and the time span for these checks.

We know that many women with TS are still only seen by their GP and with the best will in the world GPs cannot be expected to know everything about TS, the possible treatments and the checks which every woman with TS should be having throughout her life.
This situation has arisen because not so much was known about TS and once a young girl reached 16 she was signed off to her GP and more often than not told to come back when she wanted to have children!

Sadly, although much more is known about the condition now and more health issues related to TS have come to light, there are still women who do not know that there are specialist TS clinics around the UK and more importantly the health checks they should be having. GPs also need to know this and the leaflet has been designed for both patient and GP so that an informed decision can be made about future care.

On page 20 you will find a list of information available from the Society including this leaflet and how to obtain it. If you think you should be having these checks and are not or if your daughter is about to leave paediatric care then this leaflet is for you and your GP.

The leaflet also contains a list of the specialist TS clinics currently available. There are not as many of these clinics around the country as we would like but we are working with the clinicians to try and set up more.

Our aim is that eventually every woman with TS will be able to obtain the specialist care she needs for a healthy life. We will keep you updated on this issue in future editions of ASPECTS. If you need further advice or information please contact the TSSS office.

SOUND FAMILIAR?

Following on from December’s successful resurrection of this popular feature of the newsletter we includeanother article giving personal insights into aspects of Turner Syndrome. If anyone out there would like to tell us their story or share their experiences please do not hesitate to contact either the TSSS office or ASPECTS.

That Turner Syndrome Spirit

By Mary

(Ed’s Note : the following article has been sent to ASPECTS by Mary and we would like to thank Mary for sharing her story with us).

Having met so many remarkable TS women at my first conference in 2003 the sheer spirit and determination to succeed in all the women and girls struck me and I realised that we all must have 'That Turner Syndrome Spirit'.

I will tell my own story and maybe you will understand. I was diagnosed with TS at birth having been born at Addenbrookes Hospital in Cambridge . When I was about two years old a gypsy knocked at our door . She asked for some water and my Mum let her in to the kitchen and filled a glass. I sat in my high chair with bare feet. The gypsy took hold of one of my very puffy feet and said ' What a remarkable child . This child will be the most intelligent of your three children and she will achieve the most with her life'.

My mum had been given a very bleak outlook for my future at that time and I had only just begun to walk. My mum therefore told the gypsy that she did not think that this would be true and showed her to the door.

I went to mainstream Primary and Secondary School and was a very good reader but, oh dear , that dreaded maths ! I left school at 17 with two O levels and one ambition in mind - to become a nurse . I applied to the local college to begin a Pre-Nursing course in the next September and was invited to attend the pre course introduction morning. I had made my height (4’8”)very clear on the application form and when I arrived at the college there was a note on the board asking for me to contact one of the tutors . I made myself known and was taken to a room. The tutor explained that they had checked every Nursing School in the country and there was not one that would accept me at my height . My world was shattered.

I then did a couple of office based jobs before joining HM Customs and Excise where I stayed for eight years but in my heart I still knew that nursing was what I wanted to do . At 30 I decided that it was not too late to try again if it was what I really wanted . To my delight I found that the regulations regarding height had been relaxed and I could apply . It took three attempts to pass the entrance exam but I got there in the end and was accepted at Anglia Polytechnic in Colchester to commence nurse training in 1996 . I completed the course in 1999 having loved every minute of it.

I am now at 37 and have a Community Nursing job which I love – not to mention a lovely husband. None of this would have been achieved without 'that Turner Syndrome Spirit'.

Question : When does Nought matter? Answer : When it’s in a Drug Calculation

By Ann & Peter Sutton

(Ed’s Note : the following account has been sent to ASPECTS by Ann and Peter Sutton who are parents to Megan. We are sure most of you can relate to the issues described).

The following account just goes to show what can go wrong if a pharmacist is involved with the dispensing of your daughter’s drugs they are unfamiliar with.

Our daughter Megan was given a prescription for ethinyestradiol (oestrogen) 2 micrograms daily by our GP. On taking it to our local pharmacy he was unable to source the tablets easily as it was an unusually small dose. He eventually located a supplier and a week or so later we were given the tablets. After my daughter had taken them for two days my wife suggested that these were not the correct strength tablets. The label attached to the box of tablets by the pharmacist stated that they were 2 microgram tablets yet on the manufacturers box it said they were 0.02mg tablets. At first the pharmacist insisted that 2 micrograms = 0.02mg but on checking with his colleagues agreed that this was incorrect. He had mistakenly issued and been supplied with tablets 10 times stronger than prescribed and what he had ordered. No apparent harm has occurred to our daughter and we now see the matter as closed, the chemist involved appears to be genuinely sorry for the mistake and hopefully will be more careful in the future.

If you can have your daughter’s tablets dispensed through the pharmacy at your local specialist hospital mistakes like ours could then have been avoided.

This is for those people that like maths
1000 micrograms = 1mg
500 micrograms = 0.5 mg
100 micrograms = 0.1mg
10 micrograms = 0.01mg
1 microgram = 0.001mg
2 micrograms = 0.002mg

Parents ! Is Your Daughter Keeping You Awake at Night ? Then Try This !

(Ed’s Note : Jo and Mark have sent the following piece in to us describing how they have made progress in getting their daughter to sleep at night. Thanks for sharing it with us).

Let me introduce ourselves, I'm Jo and my husband is Mark. We have a daughter Cherry with TS. Cherry was born October 2002, 5 weeks premature.

We knew from the 12 week scan that she would have either Downs or Turners. TS was confirmed within days of her birth.

We've been very lucky that she hasn't suffered with any medical problems other than the occasional cold since her birth. Development wise she has been a little behind due to being premature and low muscle tone. Cherry finally started crawling and walking the week before Xmas 2003 (14 1/2 months).

Our one major problem has been sleep or should I say the lack of it. Cherry has never slept more than 3 hours at a time and wouldn't go to sleep till about midnight. She then could be awake anything from 1/2 hour to 3 hours before going back to sleep again.

Whilst I was watching Child of our Time. Professor Winston talked about the benefits of the Omega 3 fish oils and how they helped with various brain functions. The program showed an example of a boy who had poor concentration and not sleeping well. After taking the fish oil tablets he showed a marked improvement and was sleeping through the night.

I checked out the tablets and found they also made a liquid form. I found the make Eye-q by Equazen the most suitable as it doesn't contain any vitamin A & D which isn't suitable for children under 5.

Cherry has the liquid on her weetabix so that she doesn't realise she's taking it. I started giving her the liquid in January. Within 2 days she was sleeping through the night. The 1st few mornings I had to go in and check she was still breathing and not dead because this just wasn't the child I knew.

Her routine at present is in bed and asleep between 8-9pm and wake up at 9am.

I couldn't recommend the Omega 3 fish oils enough to everyone because it's made such a difference to our lives. I don't feel like I'm living my life in a fog of tiredness any more.