Childhood dystonia
Facing the challenges
“My daughter’s needs always come first...
...her life will always come before mine.”
Coping with childhood dystonia
can be an uphill struggle, for both
sufferers and their carers. We look
at how dystonia can affect life on
an emotional and physical level
– and how some people have dealt
with the problems it causes.
Alison Palmer was diagnosed with
generalised DYT1 dystonia twenty
years ago at the age of twenty-one.
● Hopes for the future
“I’d suffered from symptoms since
the age of 12”, she says, “and it made my life very unhappy and difficult.
It affected me physically, mentally and emotionally and my teenage years
were very sad and lonely. Dystonia had a huge impact on everything.
Everyday tasks like walking, or holding something were very difficult
and tiring. Whatever I did, my dystonia was always there to distract
me and it severely dented my confidence and self esteem.”
As Alison’s comments show, living with dystonia isn’t easy. And for
the children and young people who develop childhood dystonia, it can
strike a particularly hard and cruel blow, especially when it occurs during
school years or as they are entering further education or the work place.
Wanting to ‘fit in’, coping with painful symptoms coupled with
embarrassment about the condition can trigger feelings of anger,
isolation and depression. Social lives can be severely affected by a loss
of self-esteem as the severity of symptoms and other peoples’ lack of
knowledge sometimes lead to bullying. Even getting together with other
dystonia sufferers doesn’t always provide an answer. Because each case
of generalised dystonia is unique, symptoms and treatments can vary so
widely that, even if you meet someone with the same type of dystonia,
they can have a completely different experience of it.
For Benjamin Casey, loneliness became part of living with generalised
dystonia. “Between the ages of eleven and 16 I couldn’t attend school
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Dystoniamatters!
and felt very isolated. I felt very removed from my peers in education
as I missed class discussions and instruction. It was difficult to keep up
with friends, access the same entertainments and see people regularly
or stay out beyond 9pm as I was so tired.” After the age of 16, Benjamin
managed to continue with his education and went to Reading University
to read computer science but entering the workplace was hard. ‘After
graduating, it took a year to get a job which was very demoralising.
I had low self esteem because of the continual rejections and I just felt
that employers simply could not see beyond the disability.’
For many, the difficulty in reaching an accurate diagnosis is one of the
problems of the condition and comments from carers indicate that without
a diagnosis to move on from, the future can look very unpredictable and
frightening. “Getting appointments to see doctors at Great Ormond
Street Hospital took too long”, says Benjamin, “and getting a diagnosis
took two years with several wrong diagnoses.” Rebecca Adams also had
similar problems: ‘During my teenage years in the 1980s, I had a long
period of misdiagnosis and mistreatment.’ For parents and carers too,
a lack of diagnosis is a major cause of stress. “Initially, until the dystonia
came under control, it was a very worrying and depressing time”, says
one parent. “I’m not sure how long it would have taken to get a diagnosis
had I not been a GP and his mum a nurse and we were able to see a
neurologist privately who gave us the diagnosis.”
When dystonia symptoms occur after years of reasonable health and
cause a body to behave in bizarre, painful and frightening ways, it can
have a huge effect on life. Sleep is disrupted, previous life and interests
have to be curtailed and the ways of dealing with the condition and
painful symptoms have to be accommodated. Rachel Billings, now 28,
had her first symptoms of DYT1 generalised dystonia at the age of 20.
‘I used to love walking long distances, but sadly can no longer do so
as I have difficulty in walking. People stare and make comments which
makes me feel very self-conscious.’
Issue 66
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Winter 2009
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HELPLINE 0845 458 6322
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Childhood dystonia
(continued)
Facing the challenges
Alisdair Hutchings was diagnosed with
spasmodic torticollis (neck dystonia) at
the age of 34. Now 38, the implications
on his life have been huge. “I’m practically ●
Social contact via the web
housebound, I’ve lost my job and I live on
a very small benefit. I used to play sports like football, snooker and
golf but now I’m unable to interact socially in those circumstances.
Also I’m unable to eat in restaurants or go to parties or special events.”
It can be hard to be positive during times like this, but some people
do manage to develop effective strategies for coping with the challenges
that their condition brings. James Worth was diagnosed with idiopathic
generalised dystonia at the age of 8 years, and now aged 22, he says,
“Since I was eight, everything throughout my life has been more
difficult than for other teenagers. I still need a lot of support from my
family and it’s affected my social life as I like to plan my nights out so
I am not put in awkward situations. But with determination and support
I have managed to overcome most of the problems.”
Veronica Edwards was also diagnosed at the age of 8. Suffering
from DYT1 torsion dystonia and now aged 28, she says, “My dystonia
has made me the person I am today. It has made me strong and
independent. I have severe curvature of the spine which makes a lot
of people stare. But the way I see life is, if someone doesn’t like me
– it’s their problem not mine. I get tired easily, so I can’t work full
time, but I do try not to let my dystonia stop me from doing stuff.”
On the other side of the coin, for parents and carers, seeing a child
debilitated by dystonia is incredibly difficult to deal with and can
deplete reserves of emotional and physical energy. Many carers are not
only worrying about their child’s health and quality of life – but having
to deal with authorities, medical professionals and reactions from
other people, can send stress levels sky high, especially when trying to
combine caring with a paid job or looking after the rest of the family.
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Dystoniamatters!
“My daughter’s needs always come first”, says Annabel Peters, parent
of an 11 year old with dystonia. “Assessing her everyday needs, adjusting
routines to accommodate them, selecting holidays or short easy walks.
Keeping on top of her daily physio programme and constantly having
to encourage her as she doesn’t like being different. Her life will always
come before mine.”
Coping with caring
Research on the health of carers has shown that high numbers suffer
health effects through caring. It’s easy to forget about your own health
and mental well-being when you’re worrying about someone else’s. The
following are just a few simple suggestions from carers that may help.
Do one job at a time One carer cites focusing on the immediate as
being helpful. ‘If I’m helping my daughter with her food, for example,
I ignore other demands for attention – be it the phone or my other
children. Since I’ve learnt to do one job at a time, life seems to run
more smoothly.’
●
Communicate Tell people close to you what is happening. It’s easy
to bottle things up and not say how you’re feeling, but talking can help
you deal with your emotions and give others a chance to offer support.
●
Plan ahead ‘I never left enough time before I had to be anywhere.
I was always trying to fit too much in’, says another carer. ‘When I
started planning and allowing myself more time – I realised how much
stress I’d been putting myself under.’
●
Follow routines Having a pattern to your life can be a calming
influence to both you and your child. For routine chores such as bedtime
or mealtimes, establish patterns that you follow each day – it can be
calming and help you to remain level-headed.
●
● Don’t be last on the list Look after yourself and get as much help
as possible. If help is offered, don’t automatically say ‘no’. It’s easy to
think that you’re coping but if you can spread the load – not only is it
beneficial to you, but it can help your child.
With many thanks to the parents and young people who provided
valuable feedback to the Society on their lives. Note: All names
have been changed.
Issue 66
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Winter 2009
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HELPLINE 0845 458 6322
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My story
Noah steps forward
Noah was born in 2005, dystonia
revealing itself immediately when his
right foot turned in. In this article his
mother, Roisin Harrison, speaks about
the challenges of the first few years as
the condition remained unrecognised.
●
Noah Harrison
“We were given some physiotherapy in the weeks following Noah’s birth,
but that was all that was offered. When Noah began crawling, we
noticed he was pulling himself along with his arms so he wasn’t putting
any pressure on his legs and as he started standing, he’d draw his right
leg upwards as though he didn’t want to put any weight on it. If we
tried to move his right foot into the correct position, he reacted as
though it was sore.
I was really concerned by this point as it seemed as though his legs
were always painful. He didn’t like to be touched on the feet and
gradually we noticed he was having the same reaction with his hands.
By the time Noah was walking, he would trail his right leg and foot and
as it spread to his left foot as well, he would walk as though he was
sliding his feet along the ground. At 18 months, spasms were in the hand
and lower back. At two years his face, eyes and mouth were affected.
I was pushing for more explanations at this point. The pain could
affect Noah for up to three hours and when you dressed his bottom half,
you could feel him tense up. Too much activity could bring on muscular
spasms, he’d have excess salivation and his speech would be affected
so he could be really hard to understand. Because he looked so normal,
if you didn’t know he had dystonia, he just looked like a toddler with
really challenging behaviour. But I was sent away every time I went to
the doctor. You trust your medics but when you know something’s
wrong and no one else will see it, you do begin to wonder if it’s all in
your mind.
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Dystoniamatters!
After an MRI scan, a doctor mentioned dystonia. I’d never heard of it so
didn’t really know what we were dealing with. Noah was put on Baclofen
and other medication. But the trouble was, we never had a solid yes or
no as to what the problem was.
I was very unhappy about our lack of real diagnosis. I wanted to know
whether it was dystonia or not – but no one seemed able to tell us. By
now, Noah’s feet had really turned in and his hands were tight and rigid.
If he was tired or stressed his behaviour would peak and his body would
twist. It was only when the physiotherapist who worked Noah got
involved that we were referred to Dr Jean-Pierre Lin at the Evelina
Children’s Hospital, London.
Dr Lin diagnosed Noah with early childhood dystonia that responds
to dopamine when Noah was 3 years 4 months and he’s been on
cinemet, baclofen and other medication since that visit. It had an instant
result. He’s stopped having such bad spasms and his quality of life has
improved enormously.
Today, Noah has learnt how to manage his pain himself. He’s at
nursery and has one-to-one care because of his needs but he’ll tell us
what he can and can’t do. Although
“Today, Noah has learnt
he’s walking further than he did, he
still doesn’t like to walk very far. He’ll
how to manage his pain
climb two stairs, stop for a rest and
himself. He’s at nursery
then carry on. I think it hurts when
and has one-to-one care
he puts weight on one leg at a time.
because of his needs but
There’s so little awareness of
dystonia, it has been hard. There’s
he’ll tell us what he can
been lots of tears and anger and
and can’t do.”
our family has been under huge
strain – it’s shown in all of us – but having a diagnosis has meant we
can move on. For much of the time, Noah’s a happy boisterous boy of
four who loves getting dirty as much as any child.”
Issue 66
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Winter 2009
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HELPLINE 0845 458 6322
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My story
Stepping forward
In January 2009, Lucy Russell
successfully underwent deep
brain stimulation (DBS) and now
has a rechargeable battery that
can be charged from outside
the body. Her mother, Nicola,
tells us what happened.
“Until she was 6, Lucy was a
perfectly healthy active little girl
who loved dancing and playing
with her friends. But in February
2008, we noticed that as she
● Lucy Russell leads the cheers
walked, she was kicking her right
foot out. We thought she may have twisted it, but when we took her
to the doctor, he just said it was in her head and we should ignore it.
However, Lucy seemed to be getting clumsier. Sometimes she’d be
walking or running, and she’d just fall down. It wasn’t like her at all.
When she began dragging her right foot, I started to get really worried.
The hospital did X-rays and we were referred to a neurologist for MRI
scans. But by this time it had spread to her left leg which, when she
was sitting or lying down, began to kick up into the air. Her left hand
also began to be affected and walking and movement started to be
such a problem that we began using a wheelchair.
Lucy had some blood tests and when the results came back, the
doctor told us it might be dystonia. He said there were lots of different
types but he thought it was dopa-responsive dystonia. Lucy was
prescribed Sinemet Plus, but by the time we were realising it wasn’t
working, a different blood test had shown that Lucy had early-onset
torsion dystonia. Lucy had been a very lively little girl – and suddenly
it all had to stop.
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Dystoniamatters!
It was very hard. I used to think she was taking it in her stride, but
although she dealt with it very well, I realised later it had been getting
to her. She’d sometimes get very upset because she couldn’t join in with
her friends. But her school was fantastic – when Lucy started using a
wheelchair, they moved the classroom onto the ground floor so there
was minimum disruption for Lucy and everything was accessible.
After her diagnosis, Lucy was given Trihexyphenidyl to try to control
the spasms. We’d already found out about DBS and when we were told
it could help her, we were referred to the Evelina Children’s Hospital.
Four months after the diagnosis, Lucy had the operation. I know now
that we were lucky and Lucy had a very fast turn-around from the time
of her first symptom to when her operation took place – but at the time,
we were so worried, it felt like it was really dragging on.
I was a wreck during the six hour operation. I didn’t know if it was
going to work or whether there would be complications, but as soon as
Lucy came round, it was like a huge weight off my shoulders. When her
battery was switched on, although her symptoms were still there, it was
obvious that they weren’t as severe. Before the operation, her left leg
kicked up into the air so much that she had to hold it down – sometimes
she tucked it under her other leg. After the operation, her leg still kicked
up, but day by day, you could see it getting lower and lower.
Just a few days after the surgery, Lucy took a few steps up and down
the ward. It was amazing as before, she’d been so bent over she couldn’t
stand straight. She still doesn’t walk perfectly – she sometimes drags her
left foot, but she’s out of the wheelchair and she’s so much better than
she was.”
“I was a wreck during the six hour operation..
but as soon as Lucy came round, it was like
a huge weight off my shoulders.”
Issue 66
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Winter 2009
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HELPLINE 0845 458 6322
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My story
Brave trail blazer
In October 2000, aged 7, Lucie
Armstrong became the first child to
undergo the operation for Deep Brain
Stimulation (DBS) at a UK hospital.
We talk to her mother, Samantha
Armstrong, about how Lucie, now
aged 17, has coped with dystonia,
the operation and its aftermath.
●
Lucie Armstrong
“Lucie developed idiopathic generalized dystonia in the early years of
her life, but at the time we didn’t realise. She was our first child – and
you don’t really know what to expect – but we began to notice a few
problems during Lucie’s first year of life in 1993. She found eating
difficult, her speech development didn’t go smoothly and toilet training
seemed very difficult.
At the time, we didn’t link any of this together. We saw different
consultants for each problem – but no-one realised that all these
seemingly separate problems were linked to muscular control. We’d
never heard of dystonia and certainly didn’t understand that Lucie’s
tongue was going into spasm, which caused problems with eating and
forming of words.
As Lucie turned three, we noticed she was becoming quite clumsy
and frequently falling over. Her left foot was starting to turn in when
she moved and gradually she started dragging it. By four years Lucie’s
other foot had turned in. She became unable to walk – and it began to
spread into her arms, affecting her hands. When she ate, for example,
she couldn’t control her spoon and the food would go down her front.
Although she’d started school, she was having lots of toilet accidents
and after about a year, the muscle spasms spread into her neck so it
was constantly in a very painful spasm and she had to lie down a lot
of the time. Getting to sleep was a terrible struggle.
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Dystoniamatters!
During this period, we’d been going from one paediatric consultant to
the next. Nothing was diagnosed, although one consultant suggested
she had cerebral palsy. As parents, we were constantly researching to
find out who had the expertise and experience to help her. We moved
hospitals from Derby, where we live, to Birmingham, Nottingham and
then onto Oxford. Lucie tried many different drugs, had several scans
and MRIs, was told she had epilepsy and was seen by psychologists –
all to no avail.
We were eventually given a diagnosis of dopa-responsive dystonia
when Lucie was nearly 7 years old. It wasn’t the type she ultimately had,
but it put us on the right track. Lucie was given a drug to try to lessen
the symptoms, and although it didn’t work, it did lead us to our
neurologist Professor Tipu Aziz at the John Radcliffe Hospital, Oxford.
We’d heard about Deep Brain
“As parents, we were constantly
Stimulation (DBS) but didn’t
researching to find out who
know if Lucie was able to have
had the expertise to help her.”
the operation as she was young
at 7 years old but by the time we came to meet Professor Aziz, Lucie
was so severely disabled we couldn’t feed her and could hardly move her.
She was in so much pain that the bed and sofa were too uncomfortable,
so she slept on a bed on the floor. I would try to get spoonfuls of food
into her whenever I could, but she could hardly swallow – her weight
had plummeted to 15kg and she was dehydrated.
It was a miserable period. We had a week’s assessment for DBS at
the Radcliffe and to be honest, Lucie was so ill by this time that I almost
didn’t want her to have to go through with the operation. I was so
incredibly tired that I almost lost sight of what was happening. It was
a very bleak, miserable time.
The DBS surgery took place when she was seven. She was the first
child the team had operated on, the only child in the UK and the
youngest in the world, so she was very much a guinea pig. It was
nerve-wracking but we’d been well-prepared by the team. The operation
lasted about 5 hours and when they switched on the stimulator, we knew
instantly that it had been a success. Her body was more relaxed, her
fingers unclenched and within 6 weeks she was walking. It was fantastic.”
(this article is continued on page 45)
Issue 66
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Winter 2009
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HELPLINE 0845 458 6322
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My story
Dystonia Society
(continued)
Brave trail blazer
Christmas gifts
(continued from page 18)
With the festive season nearly upon us, now is the
time to think about gifts for family and friends.
“We’ve had a lot of down-times since then, as
well as up-times. About eight months after the
operation, one of the wires in her brain became
dislodged which necessitated another operation.
After that she got an infection, which made her
so ill she almost died. She’s had the DBS taken out of her head a number
of times, four battery failures and the skin at the wound site has failed to
heal. And whenever one of these problems has occurred, all her dystonia
symptoms have come back.
Lucie’s now been operation free for the past two years and has a
state-of-the-art rechargeable battery which so far has been problem free.
She’s in a wheelchair as she had to have surgery due to the spasms
pulling out her hip joint (although we hope she will be walking again
one day), but her eating is good - she’s slow, but she feeds herself and
her bladder control has improved. Speech has always been a bit of a
problem – the more stimulation of the implant, the more slurred her
speech is but she can generally make herself understood.
It’s been hard work. The phrase,‘He who shouts loudest has never
been more true but it’s been worth it for Lucie. She now has a life she can
live for herself. She’s in her last year of secondary school and we’re hoping
she’ll go to college to learn independent living skills. Her wheelchair is
powered so she has her own independence and we all go skiing
together; we have an adaptive ski that she sits on and she loves it.
I do feel sad about the social impact. Lucie has friends, but probably
not as many as other teenagers her age. It’s hard not to feel she’s been left
out. But she never complains. She’s happy most of the time and last year
she won the Princess Diana Memorial Award for her ability to improve the
lives of others and overcome adversity. It’s not the first award that she has
won and it won’t be the last – she’s here to stay and enjoy her life.”
The Society has produced a limited run of teddy bears,
book marks, shopping bags and lapel badges. Not only
with they make lovely gifts – perfect for a Christmas
stocking – but they will raise awareness of dystonia
too. The bookmarks include two magnetised strips
to ensure they stay snug within your book.
How to order
Send the completed form on the back cover to the UK
Office, enclosing your cheque. Or you can phone us
on: 0845 458 6211 or email: [email protected]
All items will be sent to
you on the day the order
is received.
Hurry while stocks last!
●
To obtain the above leaflet about DBS, please visit our website:
www.dystonia.org.uk or call our helpline: 0845 458 6322
45
Dystoniamatters!
Issue 58
66
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Winter 2007
2009
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HELPLINE 0845 458 6322
Please give me a new
loving home!
46
My story
Sticking the pieces together
Julian Parker, aged 11, was
diagnosed with myoclonus dystonia
at the age of three. We talk to his
mother Joanne about how it has
affected him. Julian and his family
live on the Isle of Wight.
“Julian had very jerky movements when
he was a tiny baby. It wasn’t really
obvious as many babies move in a kind
of jerky way but when we pointed it
out to the health visitor, she told us
not to worry and that he’d grow out
● Julian Parker
of it. He didn’t and when he was three,
after seeing a number of specialists, he was diagnosed with myoclonus
dystonia. What is odd is that there are two genes usually responsible
for the condition and Julian’s test results came back as normal. That
said, anxiety is also associated with the condition and Julian can be an
anxious person.
The jerky movements mostly affect his trunk, neck and arms and they
get worse when he’s under stress or if he’s really trying to do something.
He finds fine motor skills like writing very difficult and it’s hard for him
to hold an open cup without spilling the contents. Doing things like
cleaning his teeth and cutting his nails and hair can also be difficult.
In a typical Julian way, he loves construction toys and Airfix which can
be a nightmare for him but he usually finds a way around the problems.
When he was little, he found it difficult to put Lego pieces together but
he got round it by sticking them together with blu-tack!
Julian’s been in mainstream school since reception. We had a lot
of difficulty getting support for him and I had to really fight for a
statement but he has one and for the moment he’s supported.
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Dystoniamatters!
He looks reasonably ‘normal’ and a lot of
adults don’t notice anything different about
him, but the children do. His difficulty with
writing makes it hard for him, but he’s
content going into school. I’ve taught him to
touch-type and he uses a laptop but I think
because he takes part so willingly, a lot of
teachers forget he has needs. There are 200
pupils in his school at present, so it’s small,
but that will change when he goes to high
school in 2011.
Julian’s a very determined boy but he’s not
confident and he can be very anxious. He can
be very fussy about hygiene and he has a real
fear of heights and high ceilings. I took him to
the theatre in London and he was genuinely
scared witless because we were sitting high up
in the theatre in the circle.
There’s so little information about myoclonic
dystonia and it has been very difficult. There
doesn’t seem to be anyone quite like Julian.
He is very much isolated in his own condition.
That said, Julian’s generally a very happy boy
(I think he enjoys being a bit different) and
we’re grateful that he isn’t actually ill and
his condition hasn’t got any worse.”
“When we pointed
it out to the health
visitor, she told us
not to worry and
that he’d grow out
of it... he didn’t.”
To obtain a leaflet about myoclonus
dystonia, or if you have any other
questions about dystonia, please visit
our website www.dystonia.org.uk
or call our helpline: 0845 458 6322
Issue 66
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Winter 2009
20
My story
Fell-walking …and high heels
Sally Brown has suffered from doparesponsive dystonia since childhood, but
after treatment with Sinemet Plus, she
lives life with a minority of symptoms.
“As child, when I was active or tired at the
end of the day, I would get a lot of pain in
my ankle and leg which would cause a limp.
My mother had had similar symptoms, so my
parents were very sympathetic, but at school,
the teachers never believed me and thought
● Sally Brown
I was faking to get three hours off sport.
At the age of nine, I fell off a horse. For just a few seconds, I couldn’t
move a muscle – and then I was fine again. The trouble was, I never quite
knew where I was. I could be having a good day and then my symptoms
would suddenly hit me.
As I grew up, my symptoms became worse. I suffered severe chafing
on the side of my chin from fighting to keep my head straight and the
pain from muscle spasms made me very dizzy. I tried wearing a neck collar
to support my head and although there were times when my walking and
my neck were fine, these became fewer. I managed to go to college in
Oxford and then worked in London in PR, but I preferred to work behind
the scenes because of my symptoms and the tiredness I suffered from.
None of the different doctors I saw could help and it wasn’t until
my mother sent me an article on dystonia from the doctor’s page of
Woman’s Realm magazine that I got nearer to an explanation. The feature
mentioned Professor Marsden at the National Hospital, Queen Square,
London and after talking to my GP, I was given a referral to see him.
Although I initially had a six-month wait, the appointment was in fact
brought forward due to an accident when I was run over by a lorry. I
hadn’t seen it coming because my torticollis was making me look in the
opposite direction. At the hospital, I was seen by the registrar Dr Peter
Brown, who, after examining me just said, ‘I think we can help you.
I want you to see Professor Marsden now’.
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Dystoniamatters!
Professor Marsden asked me to come to the
hospital for investigation and three months
later, I was admitted. I was terrified. I’d never
been in hospital before. I was asked a lot of
questions, was filmed and on my last night
was given Sinemet Plus. I woke the next
morning completely straight with no
symptoms but was violently sick (one of the
side-effects of Sinemet when taken without
food or anti-emetics). After another dose of
Sinemet, I went to see Professor Marsden
and his team. Walking into the room was
terrifying – everyone was so interested in
my ‘recovery’. I nearly fled!
After being discharged from the hospital,
I went a bit mad. I insisted on walking
everywhere as it was such a treat to be
pain-free. And I loved going to the cinema;
before treatment I hadn’t been able to keep
my head still and sitting down without moving
for a long period had always caused bad cramps.
Professor Marsden’s team also treated my
mother. It was found that dystonia was in my
mother’s maternal side of the family, and, after
starting her on Sinemet, her limp and hand
cramps disappeared.
I am generally fine now. I’m on a daily regime
of Sinemet Plus, and although I used to take it
with domperidone to counteract the sickness,
I now find I don’t need to do that any more.
Just occasionally, if I am very busy or tired and
don’t take my Sinemet, I get dystonia pain. My
balance isn’t brilliant and I have been known to
fall off ladders and down stairs but that’s the
only problem I have. I’m a keen walker and I’m
partial to high heels, both things I thought I’d
never be able to do – or wear.”
Issue 66
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Winter 2009
To obtain the above
leaflet about doparesponsive dystonia,
or if you have any
other questions about
dystonia, please visit
our website:
www.dystonia.org.uk
or call our helpline:
0845 458 6322
22
Evelina Children’s Hospital
Meet the team
Children with dystonia often have complex –
and changing – needs and the care they receive
in hospital should ideally be flexible enough
to accommodate all these requirements. One
Centre that is particularly well resourced to
respond in this way is the Complex Paediatric
Motor Disorders Service at the Evelina Children’s
● Dr Jean-Pierre Lin Hospital in London. We take a look at the roles
within the paediatric team, set up in 2007 by consultant neurologist
Dr Jean-Pierre Lin, that enables it to respond to a wide range of
medical needs, whilst still taking into account how dystonia affects
children on an educational, functional, social and emotional level.
For example, a teenage patient who was badly affected by dystonia in
his left arm, said the three most important things for him were to be
able to ride his bike, make himself a snack, and for his arm not to be
in such an extreme position – so we were able to gear his treatment
towards those areas.’
Who’s who in the team?
●
Consultant Paediatric Neurologist, Dr Lin and Clinical Fellow, Dr Kaminska,
assess and manage patients neurologically before and after any surgery.
They may prescribe medication to help with movement difficulties, pain
and other medical problems and they monitor other post-surgical needs.
●
The physiotherapist looks at motor skills and mobility. She assesses
how patients move and considers how this might impact on a child’s
functioning and positioning.
●
The speech and language therapist looks at communication, including
speech and non-verbal communication. She also concentrates on eating
and drinking problems and provides advice for those who have
difficulty in swallowing.
●
The occupational therapist examines how dystonia impacts on a
child’s skills and ability to participate in activities of daily living – from
handwriting to daily self-care skills. She also looks at equipment and
assesses how it should be used for maximum ease of use.
●
The psychologist looks at the young person’s psychological functioning
and needs – taking into account anxiety and emotional issues, pain,
sleep, behaviour, and other apprehensions about their dystonia or
about having neurosurgery. She also assesses the young person’s
neuropsychological functioning, looking at their general thinking and
learning skills, memory and attention and problem-solving skills.
●
The nurse specialist is the team co-ordinator and first point of contact
for families. She teaches families about the surgical procedures, liaises
with King’s College Hospital where the neurosurgery takes place, and
is involved in assessing and managing patients’ pain and sleep.
●
And finally, the Consultant Functional Neurosurgeons (based at Kings
College Hospital), perform the deep brain stimulation surgery for all
the children.
How does it work?
After referral to the Evelina, the family and patient are sent a very detailed
questionnaire, which in addition to priorities about medical needs, also
asks questions about the practicalities of daily life. The family are then
booked in for a baseline assessment (for those who live a long way from
the hospital, this can involve a week-long stay), which involves an initial
interview followed by objective therapy assessments, investigations and
goal setting. Overall, the process involves three phases: baseline,
treatment and review.
‘The beauty of our team is that we provide an overall assessment of the
child’s function and needs’ says Hortensia Gimeno, the team’s specialist
paediatric occupational therapist. ‘We all try to be at the initial interview
with the family which means we can all talk to and examine the patient
and get an idea of their day-to-day problems and needs. In this way the
therapists and doctors can give advice – not just medical, but everything
from therapy and communication to equipment assessments.’
After the interview process, the baseline assessment concentrates on
the patient’s needs. ‘We have to be realistic about what can be done’,
says Hortensia. ‘We use the International Classification of Functioning
(ICF) which incorporates all aspects of a person’s life in their treatment.
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The Consultant’s view
Dr Paul Eunson
Dr Paul Eunson is a consultant paediatric neurologist at the Royal
Hospital for Sick Children in Edinburgh and supervising the first
population-based survey on children with dystonia. ‘We’re hoping
this will allow us to get a picture of the pattern of dystonia
amongst children in Scotland’, he says. ‘And this will help us plan
services and treatments aimed at children and young adults.’
What causes dystonia?
In young people with primary dystonia (where dystonia is the only
symptom of the condition), the mechanism of dystonia is unknown,
although an abnormal gene has been identified in many cases. There are
rare forms of primary dystonia in children that can be treated very easily
with Levodopa. Children who developed dystonia later in childhood after
previously developing normally usually have a genetic dystonia that is
inherited from a parent.
In cases of secondary dystonia, (where there is an underlying neurological condition) such as dystonic cerebral palsy, damage may have been
caused to a particular part of the brain that controls movement. This most
often occurs around the time of birth but may happen during pregnancy
or as a young infant. It is the commonest cause of dystonia in children.
For children diagnosed with dystonic cerebral palsy, treatments can
include drugs by mouth, botulinum toxin injections into muscles and
intrathecal baclofen therapy. For genetic dystonia – diagnosis would be
through gene testing, spinal fluid samples and MRI scans, and once
diagnosed, the child could be referred for an appointment with a
neurosurgeon to discuss deep brain stimulation (DBS).
When is intrathecal baclofen therapy used?
This treatment is predominantly used for spasticity but is also effective
for generalised dystonia. It would be the treatment of choice for dystonic
cerebral palsy and it can work very well. It’s not usually used on children
25
Dystoniamatters!
under the age of four as they have to be
a certain size for the pump to fit. We offer
a two day trial which tells us if it is going
to work and if it does, we go ahead and
implant a pump which delivers small doses
of Baclofen to the spinal fluid. So far, we’ve
put 106 pumps into children in Scotland
and in all cases, we have achieved the goals
agreed with parents and child.
●
When is botulinum toxin used?
Dr Paul Eunson
Botulinum toxin is the treatment of choice in children with severe dystonia
who are too young for an intrathecal baclofen pump. It is usually most
effective if the dystonia affects a limited group of muscles – in children
with generalised dystonia, there can be too many muscles to inject.
Botulinum toxin injections are generally repeated every three to four
months, although this can vary.
What advice can the team give?
We’ve found that it’s really important to give parents a range of
supporting information so we can advise on support groups and online
information that can help. We also try to give parents a timescale of
when treatments may take place so that families aren’t left in limbo
waiting for information about a procedure.
The advice we give is not only medical but also practical, for example,
advice on correct positioning and seating which can diminish painful
symptoms. We also encourage parents not to turn themselves into
therapists – it’s relatively common for parents to think they are helping
by encouraging their child to do their exercises 24 /7, but with dystonia,
there’s not a lot of evidence to show this is the case.
A holistic approach is important as we discuss the available treatment
options. For example, we know that pain, hunger and thirst make dystonia
symptoms worse so we check for symptoms such as heartburn or painful
teeth and treat accordingly. Our combined team of physiotherapists,
feeding specialists, occupational therapists, psychologists and a gait
laboratory, enables us to study the effects of dystonia on movements and
how it affects the child’s development, independence and participation in
everyday life.
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New services
We have set ourselves the target of organising a special Living With
Dystonia Day for Parents and Young People in September 2010.
If the demand is there, this type of event will become a regular
feature in the Society’s calendar.
Time for action
by Penny Ritchie Calder, trustee
During the summer the Society received
over 100 responses to questionnaires
that were sent out to young members
with dystonia and their parents.
●
In addition, at the Society’s next annual conference / AGM in
November 2010 we will include a workshop specifically for children
and parents.
●
One of the most important issues that came out of the questionnaires
was the sense of social isolation felt by many children who have
dystonia, particularly those in their early teens and beyond. They
are keen to get to know others of around their age who are going
through similar experiences. The trustees feel strongly that the Society
must do its bit to facilitate more interaction of this kind to help
reduce the feel of isolation. With appropriate safeguards, we will be
encouraging them to contact one another through bona fide online
social networking sites (via links on the Society’s website). We will
also bring together focus groups of young people to explore in more
detail other ways in which support can be offered.
●
Parents, too, wrote about how it might help to talk informally to
others who are caring for children with dystonia. The Society already
offers the 1 to 1 telephone helpline service where callers can be put
in touch with other members in similar situations, but an online
forum for parents / carers is also something which will be considered.
The intention behind the questionnaires
was to gather information on which to
● Penny Ritchie Calder
base decisions about how the Society
could best help these families. The responses were extraordinarily
moving and have provided us with a wealth of invaluable data about
the experiences of children growing up with dystonia. Many answers
were impossible to read without feeling great compassion and enormous
admiration for the way in which young people and their families have
coped with this difficult condition.
Based on this important feedback and the way that respondents rated
potential new services and support, the trustees’ decided at their recent
meeting to take the following actions:
●
●
27
Many parents said that they would find it helpful to have a leaflet or
booklet they could give to teaching staff and others which explains
about dystonia and gives guidance about the needs of the child in
a school setting. Our first priority is therefore to produce a booklet
to meet this need. We will solicit the views of parents and children
before getting the final version printed.
Parents also said that they would like the Society to arrange
conferences or other meetings focusing specifically on childhood
dystonia. These would provide an opportunity to hear from specialist
paediatric medical practitioners and, equally importantly, would be
a forum where parents could meet, get to know one another, and
share experiences.
Dystoniamatters!
The responses to the questionnaires featured the words ‘battle’ and
‘fight’ time and again, as parents spoke of their struggles to get the
best possible care and education for their children. We know there is
much more to do to increase understanding about childhood dystonia
amongst health professionals, educational bodies and local authorities.
The trustees would like to say a huge thank you to everyone
who took the time and effort to complete the questionnaires.
We will stay in touch with those who have said they would
like to be more involved and will keep everyone informed
of the progress being made in these important areas.
Issue 66
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Question time
Dystonia Society Group meetings
Putting politicians on the spot
Not all meetings are shown – please call contact person for details.
All 0845 numbers are charged at local call rates only.
Joe Dolicnzy, Joe’s mother,
Julian’s parents, Julian Parker
●
The Dystonia Society has been working
with thirty other charities to improve
access to education for young people
with long-term health conditions.
This ‘alliance’ represents more than
a million young people and aims to
influence government departments
to strengthen legislation and improve
access to education. In short, giving
young people with dystonia every
opportunity to achieve their potential.
In the October half term, a group of
charity representatives attended a ‘Question Time’ event at the Palace
of Westminster where Jon Sopel, BBC presenter, chaired a discussion with
four MPs responsible for education and children’s services. Two young
people with dystonia were in this group, Joe Doliczny and Julian Parker,
to ask the questions. Joe and Julian both have dystonia but they have
had different experiences at school.
Joe said: “I had bad experiences at school. That made me want to
participate in the Question Time session.” Joe’s school failed him by not
understanding the emotional impact of the physical symptoms of dystonia,
according to Joe’s mother, Jane Evans. “Even the Special Educational Needs
Co-ordinator didn’t bother to find out about dystonia”, she commented.
“No pupil with dystonia should have to cope alone without any support
from the school. While some schools provide good support for children
as in Julian’s case, the current voluntary approach means that support
for those with health conditions is failing many children and seriously
impacting on their health and education,” she said. Overall the two families
were disappointed in the day. The panel admitted they had never heard of
dystonia and seemed to dismiss attempts to tell them more. “We need to
keep trying to raise awareness with those who run the country,” Joe said.
If you’d like to know more, contact Val Wells at: [email protected]
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Dystoniamatters!
● GROUP ● Meetings
CONTACT
TEL NO.
1 Blepharospasm
Cathy Palmer
0845 899 7112
● 30 Jan ● 27 March, Littlehampton ● 12 Dec, Christmas lunch
2 Bristol
Keith Jones
3 Cardiff
4 Easington
● 8 Jan ● 12 Feb
●
Viv Adams
Tom & Joan Donkin
12 March, 10 – 12pm, Peterlee
0845 899 7113
0845 899 7110
0845 899 7114
5 Furness & South Lakes
Harry & Gill Jepson
● 28 Jan, 7.15pm, Lisdoonie Hotel, Barrow
0845 899 7115
6 Kendal
0845 458 6334
Una Rennard
7 East Sussex
Kay Frost
● 27 March, talk by Dr Tom Warner
8 Essex
● 28 Jan
●
25 Feb
●
0845 899 7149
Molly Perry
0845 899 7117
25 March, 10.30am, meetings in Southend area
9 Plymouth & South Devon Janet Chaston
0845 899 7108
● 9 Jan, 11am, New Year lunch & Groups 1st anniversary celebrations
33 St Pauls Court, Tonbridge Way, Plymouth
10 Hampshire (West)
Martin & Val Cross
● 30 Jan, 2 – 4pm, Greyfriars Centre, Ringwood
with Doris Prugel-Bennett (Alexander Technique)
0845 899 7119
11 Hampshire (East)
Peter Cole
● 6 March, 2.30pm, St Nicholas Church, Wickham
0845 899 7120
12 Hertfordshire
Sue Smith
● 27 Feb, meeting at QE11 Hospital
0845 899 7121
0845 899 7122
13 Kent
Dave Ward
● 16 Jan, Orpington ● 13 March, Group AGM, Maidstone
Issue 66
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