ASPECTS

September 2000

Contents
Research
Mothers Story
Bit of Advice
Pontins
Sounds Familiar - Swollen Feet

Research

Professor John Wass from Oxford writes:-

Dr Mohgah Elsheikh in the Department of Endocrinology, here in Oxford, has been doing some important research on the cardiovascular problems in patients with Turner's syndrome. It looks as if oestrogen replacement decreases insulin resistance and is likely to have a beneficial effect, not only on bones but also on the increased cardiovascular problems in adults with Turner's syndrome. The blood pressure is very important to control because in a small number of patients the aorta [the big vessel coming from the heart] dilates which is much more like as if blood pressure is high. Regular screening of the aorta is important for all patients with Turner's syndrome. It is also important to keep an eye on the thyroid function regularly because of the increased incidence of hypothyroidism.

[Dr Elsheikh is preparing a full report on the above research for the December issue of ASPECTS]

A MOTHER’S STORY

After a 2 hour labour my daughter, Wendy, was born on 5^th June 1986 weighing 5lbs 10ozs. From the moment I tried to feed her I knew there was something wrong. For the next 6 months she was under the care of Whipps Cross Hospital who felt everything was fine. In the New Year I took her to Queen Elizabeth Hospital, sister hospital to GOSH, she was admitted for two weeks to undergo extensive tests. Nothing was found. For the following six and a half years she was under the care of a Consultant Paediatrician at the Queen Elizabeth Hospital. This Consultant must have thought I was neurotic. Being only 4’ 10 3/4" myself he felt there was nothing wrong with her growth or feeding, even though she vomited and never slept for the first 16 months of her life.

In and out of hospital with infection after infection; constantly at my GP for one thing or another; in hospital for grommets [twice] and then T-tubes; I finally managed to get her some speech therapy and because I felt her co-ordination was quite bad I took her to gymnastic classes. Sandra, my eldest daughter, changed to larger sized dresses as she grew from the age of two to five years. Wendy stayed in the same sized dress during those same three years.

In December 1990 I insisted on seeing a growth specialist. In December 1991 I saw a Registrar, under a Consultant Endocrinologist, as most people know he should have picked up on the Turner’s Syndrome. He measured her from top to toe, each arm and leg and every which way he could and I was told there was nothing wrong. I felt I was banging my head against a brick wall. Nobody would believe me, neither family nor friends and now not even the doctors. I felt so alone. When I went back to the Consultant Paediatrician he said there was nothing he could do so would discharge Wendy. I replied there was "no way I was going and would be back", and insisted again on seeing a growth specialist and not a Registrar. Reluctantly he said he would refer me one more time. It took two years from asking to see a growth specialist to actually seeing one.

In December 1992, pregnant with my third child, I went with Wendy to see Dr. Savage at Queen Elizabeth Hospital [by the way he shared an office with the Consultant I had been seeing for six and a half years] he took about 10 different blood tests. He looked at her neck, hands, body and legs, not once asking my height or my husband’s, whereas all the other consultants we had seen seemed to concentrate on "height". I sensed that he knew what was wrong with Wendy but I was too frightened to ask for fear of finding out my child had a life threatening condition. He said he would see me in March. Three weeks after my son was born I had to go for the results. For the first time ever I insisted my husband came with me. Something in my heart told me I should not go alone.

We were told Wendy had Turner Syndrome, which meant nothing to me until he said that, "although she had ovaries, there were no eggs." Well, I knew exactly what that meant and burst out crying. We went home.

It took me a whole week to phone and speak to someone at the CGF who described the typical child with TS to me, the feeding and growth problems, always bumping into things, body and facial features and her ability to always make you laugh, etc. I couldn’t believe it. Everything slotted into place it was Wendy to a T. All the pieces fitted and the puzzle completed. I cried for six months and couldn’t hold a conversation with anybody. Looking back it probably took me almost three years to function normally again.

aid there was nothing he could do so would discharge Wendy. I replied there was "no way I was going and would be back", and insisted again on seeing a growth specialist and not a Registrar. Reluctantly he said he would refer me one more time. It took two years from asking to see a growth specialist to actually seeing one.

When Wendy went on to growth hormone injections in May 1993 I couldn’t administer them for three months. My husband did, until one day when he could not get home until very late and Wendy pleaded for me to do it because she wanted to go to bed. I had to give her the injection but nearly fainted in the process. It was then that I realised that Wendy did not have a problem having the injections.

On one occasion Wendy was very ill and I had to call out the emergency service. The doctor that came did not believe me when I told him Wendy had Turner Syndrome. What chance do we have when you know the diagnosis but the doctor doesn’t believe you?! A couple of weeks after we were told the diagnosis, and just having a new baby brother, John, Wendy asked if she would ever have children and I told her everything I knew as simply as I could.

In July 1991 Wendy developed alopecia, and she lost some hair but it grew back within five months. Then in December 1992 just after the diagnosis of TS she lost all of her hair in a matter of four weeks. I was devastated and couldn’t believe what was happening. Can you imagine the heartache of buying a seven year old a wig and then having to try to ignore people staring at her? As far as we know this has nothing to do with TS. Her first day at school was difficult but she held her head up high and there was never a day when she didn’t want to go to school, swimming, brownies, dancing, or even perform in front of 500 people with her drama group. Over the next five years Wendy wore wigs; was seen at the local hospital; and was given free treatment by a private Tricologist at a clinic in Regent Street. Wendy also saw a private dietician (who didn’t treat her for free) until one day I was reading a woman’s magazine and noticed details of the charity Hairline International. I wrote to them and they suggested I see a Consultant Dermatologist at St. Mary’s Hospital in London. (Didn’t my GP know about this charity?] Previously he had only sent us to the local hospital, whose cream burnt her skin. I had to ask him to refer us to the St. Mary’s Consultant.) After seeing this Consultant, who gave her steroids and cream, Wendy’s hair started to grow. Over the following year most of it grew back and she didn’t have to wear wigs anymore. Since then it has started to fall out again but Wendy is fine about it, has begged me not to buy her any wigs, and although there are quite a few patches that show, she generates dignity and pride and doesn’t let it bother her.

Another problem Wendy always had was the ear infections. I was advised by the Tricologist to see a cranial osteopath. A what? I thought. Anyway I went along and he held Wendy’s head and said he was moving her bones? Very strange I thought. Wendy was nine and from the day I saw him, to this day she has never had an ear infection. My GP said it’s because she has grown out of ear infections but I believe differently.

Over these last seven years I have had no problem getting Wendy checked out. She attends a clinic at St. Bartholomew’s Hospital. She has been seen by a heart specialist, who says everything is fine, a hearing specialist and an orthodontist with a special interest in Turner Syndrome. Wendy is still on GH injections, possibly for another year or so, and takes oestrogen daily. My GP is now extremely helpful and understanding, especially since he has had a daughter of his own!

Speaking to doctors and specialists has, of course, been very helpful for me to make sure Wendy is getting all the right medical help, but the best help of all comes from other mums and women with TS themselves who have helped me to understand Wendy’s condition.

Wendy is now 13 and is doing excellent work in school. When she started secondary school there were a lot of concerns over her immaturity and it was suggested by several teachers that she should see a psychiatrist. I too felt there were problems so after asking my GP for a referral we saw a psychiatrist for about one and a half years. Discussing Wendy in private and as a family group brought back a lot of unresolved feelings I had, which have now been sorted out, and the outcome of seeing the psychiatrist is that Wendy is fine. She is happy with her condition, her family, friends and school.

I am glad I listened to my heart and not other people’s thoughts when Wendy was a baby. Knowing there was a problem that needed to be resolved kept me going, even though I was up against everyone and felt totally alone. Only ever feeling there was something wrong with her height and eventually finding out so much more, going through feelings of "why me" and "why Wendy", feeling frustrated, devastated, angry and upset and now at this moment in time feeling quite relaxed and contented and being very proud of Wendy. She is a hard worker and always keen to help, especially with her younger brother and baby sister, and I love her very much.

[The moral here is perseverance, love and understanding eventually pay off. Remember that the TSSS is here to help and support wherever and whenever it can. There is no need to feel alone with TS]

A Bit of Advice!

by a TSSS member

Fear and pain impossible to name.

The smothering quilt of anger and guilt

That makes up the bed of joy and dread

You're too scared to share.

That prison cell body that locks you in

Where dampness and cold chill the natural warmth

Your sunny side wants you to show.

The hatred brimming isn't you

Where does it come from this bitter brew?

A fusion of confusion and hyper sensitivity

Making you wallow in lonely self-pity.

Please don't wallow too long

For you'll soon find you're stuck

So get out while you can

And with a bit of luck

Friends and family will pull you free

Saying, "You just had to ask!"

Do you see?

Invest your trust and cherish your hope

They're useful remedies to help you cope

And don't turn them down when they're offered to you

For the people who bring them are rare and few.

You don't need might to win this fight

Just the courage to see what others do -

The beautiful, compassionate person that is you!

Don't shirk the compliments - accept them

And say,

"I know - and I'm more so with every day!"

Slowly the quilt will lighten and fall

And the door to your cell will open to all

The dampness will go

And you won’t feel so cold

Nor Alone

Nor Scared

Nor Ashamed

Pontin’s can be good for the heart!

Hi, my name is Lucy and I’m from Hereford. I have known that I have TS since I was 12, which is 14 years ago now. I am quite lucky really because I am mosaic which means I don’t have as many symptoms as some. I am 4’ 7" tall. I take HRT patches with tablets and also thyroxin for an under active thyroid. When I left school I completed the NNEB course and qualified as a nursery nurse. I then worked in Nursery’s in holiday centres for 5 years and I met my husband James at the Pontin’s Centre in Blackpool!!! James and I have recently moved into our own home so we are now experiencing the joys of having a mortgage. We have both had a lot of fun buying furniture and setting up home!

I now have a full time job in a day nursery working with babies between the ages of 6 months and 2 years that I really enjoy. A couple of years ago I completed a NVQ level 3 in early year’s childcare. The girls I work with are doing the same course now and often ask for my help. Most of them know about my TS. When I first told my boss and work colleagues about it I was a bit worried about how they would see me once they knew. I was quite surprised because apart from the initial questions and asking to read booklets they didn’t really say anything and certainly don’t treat me differently.

I have only been a member of the TSSS for the past couple of years and I have found it a great help. I have made good friends like Josy who also lives in Hereford and she put me in touch with the Society. Also Mary who has done a great job in organising a local adult TS group which has grown to about 12 now. We meet up once every few months and usually have lunch and a look around the shops or a bit of sight seeing.

I go and see Mr Browne at the Manor Hospital in Walsall once a year, which I find a great help and James and I can ask any questions we might have. I get checked for weight, thyroid levels, diabetes etc. I feel that my TS has never stopped me achieving what I wanted to achieve and isn’t a major problem in my every day life. I hope that can be the same for others. All the best to everyone every where.

[Thanks Lucy for your cheerful story. Hopefully you and James will be enjoying a 2^nd honeymoon at Pontin’s in October Ed.]

SOUND FAMILIAR?

This is proving to be a popular column so it will be continued for as long as your "Sound Familiar?" articles keep arriving in the office. This issue a mother of a daughter with TS writes about what appears to be an all too familiar story for those with TS.

My daughter was diagnosed at birth with TS because of her severely swollen feet. They were so swollen that her feet and ankles looked deformed; she had no toenails. They told me this happened because the lymphatic system in babies with TS was immature and could not drain away the fluid properly. I was told that this would improve as she grew up and probably by the age of eighteen months it would go away.

As the months proceeded I bought tights and socks to cover her feet and concentrated on the feeding problems. She was such a happy baby never sitting still for a minute. Her feet never seemed to bother her. When she started walking at about a year old, there was no stopping her, she wanted to walk everywhere. Buying shoes was a nightmare; no shoes were wide enough. Her first pair of shoes was two sizes bigger than she needed to allow for the width. She kept falling over because they were so long. Eventually the hospital gave her little white boots that were very wide, came up past her ankle and laced up the front. Not very pretty, but they did fit.

When her toenails grew they were a funny shape and very difficult to cut. They started to become ingrown and infected. We saw a chiropodist at the hospital who gave me some advice and showed me how to cut her nails. He also arranged for an insole to be made for her shoe, to try and stop her left ankle from turning in. Her left ankle was much worse than the right.

So as we got on with life. I very quickly realised that the swelling did not go away at eighteen months. I mentioned it to the doctors all of whom were very understanding of the problem, but could offer no solution. I learnt from talking to other parents that it was a common problem. I asked the physiotherapist, who was treating me for my back problem, if she had any advice. She showed me some massage technique and that that helped a bit.

When she was started on growth hormone at four and a half she began to look less puffy all over and her feet and ankles improved greatly. So for a couple of years the swelling was less of a problem. It was almost completely gone on the right foot, still there slightly on the left but much better than it had been. Her toenails continued to become infected, but she coped with it.

During the summer of 1996 following a lovely summer holiday she became very seriously ill very quickly. Eventually the doctors said she had a severe cellulitis (tissue infection) in her left leg, she was admitted to hospital and given intravenous antibiotics and her foot was elevated. She spent three weeks in hospital and had IV antibiotics the whole time. She spent seventeen days in bed not getting up at all. Physiotherapists came and started to work on reducing the swelling, as elevation was not working. It is one of the saddest things I have ever seen she was like a puppet on a string, all her muscles had wasted away. She was weak, could not stand or walk on her own. I admit I was absolutely terrified that this was some awful disease she had. With hindsight, because her lymphatic system does not work properly, elevation did not work. What she needed was to be up and around to get her system to drain the infection. The doctors believe that the infection began in her toe and it had tracked up her leg.

The swelling has not gone back down in her left ankle. Shoes continue to be a problem. Her ankle looks as though it’s injured a lot of the time. The swelling becomes worse in hot climates and long journeys especially flights.

Out of sheer desperation I called the Marie Curie Cancer Hospital they have a Lymphoedema Clinic. We were seen within eight weeks of my GP's referral. At the appointment I saw a light at the end of the tunnel. The specialist nurse listened carefully to what we said; she measured my daughter’s feet and legs. The Consultant spent time with her explaining that if she wore the special support tights that they were going to give her and use the massage technique that they would teach her it should improve. The tights are special tights that encourage the fluid to circulate around the legs. Better than ordinary support tights, they look just like opaque tights. The simple massage instructions are on a sheet and easy to follow. We are at the early stages of trying the massage so not quite sure on how effective it is. However the tights are great and make a big difference. The nurse at the hospital has treated a couple of children with TS and she is currently writing a paper on Lymphoedema. It is not about TS specifically, but she would include some information on TS and this associated problem. To help her I would like you to complete a questionnaire, it will be very helpful to see how many girls and women are affected by lymphoedema and how many are not. If you do have problems with swollen feet and would like to try the simple massage a copy of the instruction sheet can be obtained from the TSSS office [see below]. It is important for as many people as possible to fill out the questionnaire so that a complete picture is given. When the nurse has collated the information from the questionnaires it will be printed in the newsletter.

Send to the TSSS office for:-

A copy of the questionnaire please mark the envelope ‘Feet Questionnaire’ and enclose a stamped self addressed envelope for its return.

For a copy of the massage instructions please enclose a stamped self addressed envleope & 4 x 2^nd class stamps to cover photocopying & handling costs.

A Foot Care leaflet for girls and women with TS is available. Mr Gordon Watt, Senior Lecturer in Podiatry at Yorkhill Hospital has kindly prepared this for the Society. As above please enclose a SAE & 4 x 2^nd class stamps to cover the photocopying & handling costs.