ASPECTS

December 2004

Contents
TS Hits the 21st Century
Laura's Story

SOUND FAMILIAR?

(Ed’s Note : We would like to thank the writers of both articles for sharing their experiences of TS).

TS Hits the 21st Century

Hello, my name is Sandra. I am a 54-year-old with TS.
As I was reading through the September issue of ASPECTS I was particularly drawn to the nomination to the Committee of Jackie O’Keefe. Jackie stated that her daughter, Shona, was diagnosed with TS when she was three months old. Perhaps because I have just celebrated my 54th birthday it got me thinking…

I was born in 1950. Both Mum and Dad thought there was something wrong because of my puffed up feet. However, the doctors said ‘Oh, she’ll be six foot tall and a film star, don’t worry’! They simply did not know about Turner Syndrome and, as they say, ignorance is bliss (well, sometimes). All through school I was ‘little and good’ but I am happy to report there was absolutely no bullying. I was not diagnosed as having TS until I was about 16 years old. I eventually reached the grand height of 4’ 6”. Of course, when I was diagnosed the TSSS had not been thought of. My parents supported me but you have to remember they were of a generation that knew virtually nothing of counsellors and support societies. However, they gave me their unstinting support as their daughter in their own unique way. My darkest days were probably between being 19 years old and 24 years old. Then perhaps I would have appreciated the support of an organisation such as the TSSS. However, I got through those ‘darkest days’ and now couldn’t be happier. I have a sister with five children and three grandchildren so I am fully occupied. I drive a Fiat Seicento. Learning to drive was my greatest challenge. I do not drive long distances but locally. I have learned and accepted my limitations. It is great fun going to the Supermarket and ‘sizing up’ which person I will ask to reach me something from the top shelf. I have it down to a fine art and never have any problems and always get a positive response.

Today’s generation of TS babies and girls will have all the benefits and backing of new techniques and advances in medicine and support societies like the TSSS. OK, some of us (like me) may not necessarily get a University degree as such, only one from the University of Life and to me that sounds worth having. Us older ones with TS can only offer our own experiences to the new generation of TS babies and girls and encourage them make the most of new opportunities to improve their life with TS. I have the utmost confidence they will succeed in life in their own indomitable way. I wish Shona and all the other TS babies and girls good luck for the future – yes, this is where TS hits the 21st century and is even looking towards the 22nd century with faith, hope and above all courage. With very best wishes, Sandra.

Laura's Story

Now that Laura is 10 years old I cannot imagine life without her. She is a caring outgoing, thoughtful, sensitive girl; she is always willing to have a go at things (having said that she knows her limits!).

Laura was born in a bit of a rush because when I arrived at the hospital she was in distress. The thing that sticks in my mind was the doctor on the phone swearing, telling the anaesthetist to hurry up other wise they were going to lose the baby. I went to sleep not knowing whether the baby would be alive.

When I was coming round I heard a nurse tell me I had a girl but her foot was swollen but not to worry as it was probably just the trauma of the birth. I was so relieved that she was alive that the swollen foot was of no consequence.

Laura was beautiful. She looked so much like her brother Joel although she was a lot smaller. That afternoon the nurse asked me whether I would mind the medical photographers taking photos of Laura, and they said they needed to take some blood. I agreed, but my suspicions were raised that all was not what it seemed. Because my ex husband was a minister there then started a steady flow of visitors. To my relief visiting was over and I was put in a ward with four other mothers.

I then tried my best to feed and I expected that she would feed like Joel with vigour, but she didn't seem the slightest bit interested. When eventually she did manage a little milk she started to choke and went blue in the face. The nurses rushed off with her then came back and reassured me that it was just the muconium that she had swallowed and she would be OK now that they had suctioned it off.

But things were not OK. Feeding just wasn't happening. Sucking was too much of an effort for her and every time she did get anything she went blue. Within 24 hours she had been taken to Special Care and was put on a breathing monitor and was being tube fed. I was devastated as I was not allowed to be taken out of the ward for two days and she couldn't be brought to me. It seemed like for ever before I saw her. Looking back it was probably a good thing because I spent a lot of those two days sleeping.

I had to stay in the hospital for 10 days. Towards the end of Laura's time in Special Care the paediatrician came to see us with another doctor and two nurses. They said that they had some bad news for us and they said what I thought was that she had 'Terminus [sic] Syndrome'. His Scottish accent and my panic made me think that she was about to die. He then explained it to us and gave us the name and telephone number of a child who had the condition in Sunderland as well as a booklet from the Child Growth Foundation. I can remember feeling only relief that it wasn't as bad as I had feared. We were then advised not to tell anyone.

This was something that I knew I couldn't and didn't want to keep from my own family but when it came to my ex’s family they were very proud of the fact that there was nothing wrong with Laura and even said that to us. It was nearly a year before we told them.

Laura left hospital and was constantly sick as nothing seemed to keep down. She failed to thrive and I was given all sorts of useless advice. At the time feeding problems associated with TS were not very well documented and I was constantly made to feel like it was my fault. Going out was a nightmare. Potty training and Laura just never happened and at least four sets of clothes were needed if we were going to be out for over an hour and a spare set of clothes for me as well because of the projectile vomiting and constant gagging on food.

We had a visit from the child and mother of the person who had TS from Sunderland which did reassure me about the future but no-one told us about DLA help from social services. My ex husband at best recognised that Laura existed but categorically denied that there was anything wrong with her. By the time Laura was 6 months old she was very ill and was admitted to hospital suffering from pneumonia, very low blood sugar, gastroenteritis and ear infections. This was despite me taking her to the baby clinic twice each week and discussing my concerns with the midwives.

So began a three weekly cycle. Laura would be in hospital for a week on a drip, then would get an infection, refuse to eat or drink, then become dehydrated again. By the time she was 9 months old it was clear that Soya milk stayed down better than formula milk and that the vomiting was here for the foreseeable future. I rang the Child Growth Foundation who then said that feeding was a problem with many TS girls. This changed my attitude towards the whole feeding problem. Once I stopped blaming myself and started to think about ways of overcoming or just living with the problem it became much easier. As there was no help forthcoming from my partner I set up systems whereby I could manage regular hospital admissions, my own work and Joel. I moved my expectations of milestones as well.

When Laura was about a year old it was obvious that she wasn't hearing very well despite passing the hearing test at the health centre. I asked for her to be referred and sure enough she had a mild hearing loss in both ears. Grommets were suggested as a matter of course. I was told there was a risk but really I was given no choice. The grommets worked for two weeks then they became infected and the waiting list to have more put in was 6 month. She had them done again and again she had two weeks of hearing. I went back and told them that I didn't want anymore grommets and that I would rather her have hearing aids. At least that way when her hearing fluctuated then she could just turn them up. They agreed but were not overly enthusiastic.

Just after that my ex left and I moved health authorities which meant ENT was done at a different hospital. The ENT specialist was shocked at her ears because the grommets had caused so much damage. She was then admitted for a suction clearance which led on to her having her first mastoid operation. As a result of this her hearing deteriorated. Of course this had affected her speech and I was keen to get as much as help as I could. This included portage and I also insisted that she be statemented on her perceived needs before she even got to nursery. She also got some speech therapy and I tried to get her doing as much talking as I could. It was clear that her hearing was never going to get any better and her progress was going to be delayed by just her hearing problems alone, without the infections, the incontinence, and the problems with eating.

I researched all the schools in the area and decided that the best school was a special school. Being a teacher I was quite clear that to start from a point of failure is the worst possible start in education and I wanted to make sure that the education she received was positive. Education is an individual thing and the education needs to fit the child not the other way round. It was clear that I had made the right decision with Laura because she thrived on it all. The criticism everyone had was that she would miss out on the social element of mixing with so called 'normal' children. I would argue to the contrary that she has an understanding of people with special needs and an appreciation of tolerance that she would never have gained in mainstream. She was mixing with so called normal children at Rainbows, swimming, Sunday School and various other things, but because she was happy during the day at school it helped her to learn.

The school that she attends was also very understanding of the time that needed to be taken off and because each individual had their own education plan and pace of working being away did not mean that she was missing anything. During Laura's time at Barbara Priestman Laura has become very confident despite the fact that during her time there she has also been diagnosed as dyslexic with some dyspraxia she has grown in confidence.

When Laura's older brother became a cathedral chorister Laura decided that she too wanted to sing. I had serious misgivings, mainly because of Laura's poor hearing and difficulty with speech. The surprising thing though was that Laura seemed to be able to sing in tune even with all her problems. I decided then that I was going to allow her to try out whatever activities she wanted to try. So she has. She still continues with her speech and drama Lamda exams which help her with her speech because in Sunderland the children at the school have had very little in the way of speech therapy for the last few years.

Despite the fact that Laura has had numerous operations on her ears, and most winters tends to have pneumonia or some nasty infection, this doesn't seem to stop her.

When Joel was 8 years old he came to the Turner Syndrome conference with us and decided that he wanted to raise some money for the organisation by making a CD. However, that was before he was diagnosed with dyspraxia. He was having problems of his own during this time at school so I decided to leave it until the subject was raised again. Earlier this year he asked when he could make the CD and whether it could be for the dyspraxia foundation as well. However Laura decided that she too wanted to make a CD. She was by this time in three choirs and was having singing lessons, so the decision was made to do two CD's but split the money.

The choirs that Laura sings in have been very supportive of her and have made sure that she has been included. With both Joel and Laura it has been shown that children who do have extra difficulties can join in and contribute to good music making and that choirs who do allow children with these difficulties to take part can also gain a great deal of dedication and commitment from these children.

Laura continues to sing and enjoys her music. She has very supportive music teachers and also tries to use her music to help others. I am very proud of Laura and what she achieves. Like most TS girls she cannot understand what the fuss is about . She doesn't seem to realise how amazing it is that someone who is so deaf and who has the problems that Laura has can sing so well and with such confidence in front of others.

Many of Laura's eating problems have resolved themselves and those problems that we still have have been worked round so that they are no longer a problem to her. Her hearing doesn't get any better and the infections continue as do the suction clearances. She still picks up more than her fair share of infections and struggles with her writing. But she has found a talent which she can excel in and which she can use not just to help her but also to help others.