Big Bad Bike Ride

the Ataxian
The magazine for people affected by ataxia
Ataxia in prison
Saving energy
Doctors’ Q & A
Big Bad Bike Ride
Seventy-five thousand reasons to smile!
Issue 184, winter 2013
What’s inside
Pariticpants in this
year’s Big Bad Bike
Ride (page 10).
Issue 184, winter 2013
Update
Branches
Research
Fundraising
Health
Services
Sue’s welcome; Meanwhile in the Office; staff contacts...............
The audio Ataxian; Unseen Stars; Network Chat..........................
Three new projects and promising results for kids & for SCA7.....
Thank you, Boots on Tour; Cycling Doctors; IAAD around the UK
Doctors’ Q&A; Genetic Alliance’s new medicines survey............
Ataxia care in prison; Bright energy- and money-saving ideas.....
3
4
6
10
14
16
Adapting to life Aids and equipment for living with ataxia, by Matthew Law.......... 18
Opportunities Cornberg Grants & Jerry Farr Fellowship closing dates............... 19
In memoriam ....................................................................................................... 20
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OFFICE
Phone
Email
Fax
Address
HELPLINE
020 7582 1444
[email protected]
020 7582 9444
Ataxia UK
Lincoln House
Kennington Park
1-3 Brixton Road
London SW9 6DE
Phone
Email
0845 644 0606
[email protected]
The helpline is open at the following times:
Mon-Thurs 10.30am—2.30pm
Friday
Closed
Disclaimer
We have made every effort to ensure that the information in the Ataxian is up-to-date and accurate. We
hope that any advice given will complement any professional advice you receive. Please do continue to talk
to your health- and social care team, or contact our helpline if you are worried about any aspect of living
with ataxia.
© Ataxia UK 2013. If you would like to reproduce any content from the Ataxian, please contact the office.
MEANWHILE, IN THE OFFICE...
After last issue’s goodbyes,
we’re very pleased to be
able to welcome a few new
faces to the team. Louise
Alexander has extensive
experience of third sector
accounting and joined us as
Finance Manager in
September. Julie Vallortigara
is our new Research Officer,
joining us following her postdoctoral research at King’s
College London on dementia.
Now we have two Julies!
We have also had the benefit
of two cracking interns, both
of whom started in
September. Alice Tobin has
been working between the
Fundraising &
Communications and
Research teams, while Altan
Suleyman joined the
Administration team. Many
thanks for all your help and
hard work!
Ataxia UK staff
Administration
[email protected]
[email protected]
Ÿ Hannah Tipple – Office Coordinator
Ÿ Louise Alexander – Finance Manager
Ÿ Sue Millman – Chief Executive
Branch Support and Development
[email protected]
[email protected]
Ÿ Sheila Benneyworth – Helpline & Membership
Officer
Ÿ Tina Thatcher – Branch Development Manager
Fundraising and Communications
[email protected]
[email protected]
[email protected]
Ÿ Ade Deane-Pratt – Comms & Confs Coordinator
Ÿ Izabela Seabrook – Fundraising & Comms Manager
Ÿ John Williams – Development Manager
Ÿ Madison Bridgewater – Fundraising & Events
Coordinator
Helpline and Advocacy Services
[email protected]
[email protected]g.uk
Ÿ Lyn Smith – Helpline & Advocacy Services Manager
Research
[email protected]
Ÿ Dr Julie Greenfield – Research Projects Manager
Ÿ Dr Julie Vallortigara – Research Officer
Update
Welcome
W
elcome to issue 184 of the Ataxian–the last of
2013. For many, it will have been a difficult year.
Certainly at Ataxia UK we have needed to strive ever
harder to keep the funds coming in, given a general
climate of financial hardship. However, we have had
some great successes, for example with the Big Bad
Bike Ride (on the cover and on page 10). Our
fundraisers’ hard work and enthusiasm mean that we
can take a very positive outlook, and I’m really looking
forward to ramping up our activities throughout 2014 as
we prepare for the charity’s 50th anniversary activities
in 2015.
The 2013 Christmas Appeal has been mailed and I cannot
stress enough how much we need your continued support this
year to ensure we can keep providing our much needed
services. Every penny really does count, so if you want to make
a difference, have cash to spare and haven’t already posted
your donation, please do so as soon as possible using the
envelope provided in the mailing. Thank you so much to
everyone who is able to help us.
I hope you will be as interested as I have been to read the two
interviews in this issue, with Anne Hall, mother of Daniel
Roque-Hall (page 16) and with ex audio Ataxian producer Peter
Gibson-Suter, as he steps down (page 4). I feel very strongly
that people with ataxia should receive appropriate care,
whatever their coircumstances. And I would like to extend my
warm thanks and appreciation to Peter for his kind work.
Our expert panellists address a new set of health concerns in
the Doctors’ Q&A on page 14, while Matthew Law’s A-Z of
adaptations (page 18) tackles some more of the practical
aspects to living with ataxia. The research pages are
particularly full of promise, with some of the less investigated
aspects of ataxia receiving attention, for example in our new
project to develop hearing aids (page 6). And there’s a
reminder to start thinking about your Jerry Farr application,
together with the next Cornberg closing dates on page 19.
I do hope that you will have a relaxing and enjoyable festive
season. The energy-saving tips on page 17 should help keep
you warm and safe. Look out for the office Christmas video on
the Ataxia UK Facebook page; it’s great fun. Do also tune in to
Wobbly TV if you can: you’ll be able to find our new monthly
series of short videos about living with ataxia on the website
throughout the year and can read all about the project–made
possible with generous support from The Tudor Trust–in the
next edition of the magazine.
Very best wishes
3
Branches
Let’s hear it for Peter!
F
or many moons, the audio version of the
Ataxian magazine has been produced by
our Friend Peter Gibson-Suter. He has done
a sterling job of making the magazine
accesible for some of our visually impaired
subscribers. As he steps down from the role,
we thought it would be great to speak to him
about the experience. And most of all we
want to say a tremendous thank you to Peter,
for all his time, effort and care.
When did you start recording the audio Ataxian?
Seven years ago I took over from Peter Cordwell
whose ataxia was becoming too advanced for him
to carry on. He set a very high standard of recording.
I knew it would take some time to achieve his level
of expertise but I was determined to do so.
Do you have a particular interest in sound
recording and production?
No, but I spent some time with "newspapers for the
blind" and saw how they operated and adapted
some their techniques for the Ataxian on tape.
Auto Reverse Cassette Deck (which we still have; if
anyone would have a use for it please let me know).
What equipment did you use?
The equipment used was a TEAC W-860R Double
Who were the people who did the readings?
A group of close friends who happily volunteered to
Annual Conference meet
Tina tells us: We held a
Branch and support group
officers’ meeting on the
Friday evening of
conference which was
very well attended. We
discussed raising
awareness of ataxia,
both as individuals and
as a group.
Lots of ideas were put
forward and a fact sheet
was put together which
Tina at the Annual
was emailed to all
Conference meet
Branches and support
groups. We hope you find
it useful - let us know how you get on.
Volunteers needed
Sometimes, and for various reasons, we find that
the amazing volunteers who run our groups and
Branches are unable to do it anymore. So we are
now looking for some more amazing volunteers to
take forward the following groups:
4
Peter Gibson-Suter
Ÿ Holmfirth and Huddersfield, Nottingham, South
Cheshire, Tamworth, Shropshire, Brighton,
Doncaster, Norwich and Plymouth.
If you are interested, please get in touch with Tina
(details below), who will support you in the role.
New support groups and Branches
Ÿ Ataxia UK Tunbridge Wells Branch Tunbridge
Wells had their second meeting in November and
are looking forward to lots of social and
fundraising events.
Ÿ We have new support groups at Oval and Barnet
in London, and in Gateshead.
Ÿ Coming soon: new groups at Hereford
and Cannock
Setting up a group
Don’t forget, if you’re interested in setting up a
group in your area, you can contact Branch
Development Manager, Tina Thatcher on
01785 822 322 or [email protected]
Branches
help with very little arm twisting! After a nervous
start they soon came to enjoy the readings. We
tried to make the recording a social occasion which
ended up adding at least two hours over and above
the time it took for the reading.
What did you get out of doing it?
A lot of hard work. In the beginning hilarity reigned,
what with me pressing the wrong buttons on the
recording equipment and the readers
mispronouncing unusual words, the recording
dissolved into a riot of fun and laughter but we
soldiered on. All enjoyed the experience and looked
forward to the next issue.
Why did you choose the Liberty Bell March by
Sousa for the theme tune?
That was an idea from "newspapers for the blind"
who were of the opinion that it was important to give
the recording an identity and music was the most
effective vehicle. I wanted some music which was
easy to listen to, was memorable and brought a
smile to the face. I felt that Liberty Bell met all
these criteria.
Unseen Stars
A
n extract from the novel
by Peter Bailey, who
was diagnosed with
Friedreich’s ataxia when
he was in his early teens.
One dream – of which I only ever have the briefest
snatches – marks, in a way, a turning point in my
life. The word idyllic does not do justice to
describing my early childhood; I leapt through the
first ten years of my life blissfully unaware of what
would soon befall me. In this dream I am eleven
years and a couple of months old. The gradual
deterioration in my balance and in my ability to do
any physically complex things had been around for
a few years now, but it is only now that I’m
becoming aware of the certain progressing
limitations that are affecting my body. I have heard
the name of the condition I am to suffer from being
bandied about my family before because of my
brother, and I also have a vague notion of genetics
and of the possible implications of the condition.
Either because of a subconscious aversion to
admitting I have it, or by adopting a laissez faire
attitude towards the future, in the dream I am
genuinely mystified as to why I used to be able to
do about eight ‘kick-ups’ with a football, whereas
now I can do no more than four.
I am standing, hands on hips, at the end of my
garden. The football is at my feet, my house is
5
How else do you spend your time?
I was diagnosed with cerebella ataxia about twenty
years ago and over the years, with the
development of the condition, I have had to curtail
some of my activities which included, sailing,
badminton, golf and walking. However, some of
these interests have another side to them which I
can join in. For example, meeting the rambling
group for lunch after they have completed their
walk. I also organise a curry club for approximately
26 people which meets every month.
What's next on your agenda?
I was diagnosed with cancer of the oesophagus
about six months ago. Until my cancer treatment is
completed with a satisfactory prognosis, I am not
prepared to take on any other activities.
The current and future editions of the audio
Ataxian will be available for download in MP3
format. If you already subscribe to the CD version
and have elected to do so, you will continue to
receive your copy on CD.
behind me and I am looking out through the gaps
in the fence across the field. I am not angry about
my apparently decreasing ability to play football,
more puzzled. Through the fence I see a group of
older boys walk past. They are probably about
fourteen or fifteen, but – being eleven – I see them
as adults. The ‘man’ who seems to be the leader
sees me and they walk over.
‘Y’aright mate?’ says the leader in a poor middle
–class imitation of a cockney accent.
‘Alright?’ I reply, similarly.
‘Do you know what this is?’ He holds it up like a
prized possession.
‘Uhm – a cigarette,’ I say, slightly insulted.
‘Yeah, but do you know what’s inside it?’ He grins
surreptitiously at his friends.
I have seen pictures of Bob Marley holding those
kinds of cigarettes before… ‘Marijuana?’
‘You’re not as stupid as you look! But this joint has
a special ingredient in it – it’s a surprise!’ The gang
erupts in laughter. ‘So do you want some, or what?’
‘OK,’ I say. So we venture up towards the brambles
and the weeds, sit under the horse-chestnut trees
and smoke the joint. I don’t know if the others are
just pretending, but I don’t feel any different
afterwards. I tell them I like it, though, because I
do. It makes me feel adult, like I’m moving on. I’m
not really, though, actually I’m falling backwards.
© Peter Bailey 2013. ISBN 9781304174147.
5
Research
Our research gets results!
Pushing forward with our 2020 vision, in this edition of the Ataxian we tell
you about our three new research projects and some very promising results.
Hearing problems in ataxia are beginning to receive more attention from
research and in our first project we hope that suitable hearing aids can be
developed specifically for ataxia. We’re also helping to sustain the ataxia
research community by funding a PhD student to look at the important role of
calcium in producing energy for cells in a mouse-model of Friedreich’s ataxia (FA), and in our third
new project we’re looking to move gene therapy in FA forward from an animal model into a system
that can be used safely on humans.
Then in our results section we tell you about the great new addition to physiotherapy for children
with ataxia that uses video games to get the kids motivated about their treatment. And lastly, you
can read about how a drug that is usually used to treat multiple sclerosis has been shown to
improve balance and coordination in mice with spinocerebellar ataxia type 7-like symptoms.
Three new projects
Better hearing aids for Friedreich’s
ataxia and spinocerebellar ataxias
R
esearchers in Australia and the UK have
jointly been awarded a grant to
investigate new devices for those with
Friedreich’s ataxia (FA) and spinocerebellar
ataxias (SCA) who develop hearing loss
caused by nerve damage. Dr Kai Uus, who
will lead the group at the University of
Manchester, spoke about hearing loss and
the impact it has on those with ataxia at our
Annual Conference earlier this year.
Conventional hearing aids can’t help
Hearing loss in people with FA and SCA does not
necessarily affect the level of the sound which they
can detect, but rather the quality. This is because
it’s the brain that processes and interprets sound
picked up by the ears. So, even if the ear works
normally, damage to the central, hearing-related
parts of the brain can cause distortions in the
sound heard. Conventional hearing aids, which
only amplify the sound, cannot help in these
situations.
To solve this problem, two groups, led by Dr Gary
Rance at the University of Melbourne and Dr Kai
Uus at the University of Manchester, are
conducting research into more sophisticated
hearing devices, called Digital Speech Processing
(DSP) hearing aids and frequency modulation
(FM) listening systems. They aim to develop the
devices to cater specifically for people with these
types of ataxia.
6
Previous research by the group in Melbourne has
found that over 95% of people with FA show signs
of damage to their auditory system, and a
preliminary study suggests that around 70% of
those with SCA suffer from hearing loss. This
affects their ability to communicate and can reduce
quality of life. It is hoped that this research will lead
to hearing aids that allow more effective
communication and improve quality of life.
“Both Friedreich’s ataxia and spinocerebellar ataxia
can influence the function of the auditory system.
Affected individuals can have normal ears, but still
hear poorly as the signal gets scrambled at one or
more stages of processing in the brain. As a result,
complex sounds (such as speech) may be distorted
and hard to understand – particularly in the
presence of background noise,” says Dr Rance.
“Our Ataxia-UK supported research project aims to
explore what is going awry in the auditoryprocessing pathway and to develop auditory
devices that can ameliorate the problem.”
Take part in phase II
Dr Uus adds: “We will
be looking for a small
number of participants
in the UK to take part
in the second phase of
this study. Please call
07876 408 656 or
email me on kai.uus
@manchester.ac.uk if
you have FA, or SCA1,
2 or 6, have
experienced any
difficulty with your
hearing and would like
to take part in this
pioneering research.” Dr Kai Uus speaking
at our Annual Conference
in October
Research
Exploring the role of calcium in
Friedreich’s ataxia
D
r Paola Giunti, who runs the London
Specialist Ataxia Centre and is a leading
clinical researcher at University College
London (UCL), has been awarded funding
from UCL’s ‘Grand Challenges’ grants
programme for a researcher to do a PhD on
Friedreich’s ataxia. The scheme involves
UCL funding two thirds of a research project
and is reliant on getting an external funder to
provide the final third. Ataxia UK is pleased
to be the external funder for this project,
meaning that we will effectively gain three
years of ataxia research for the cost of a
single year.
treatment for a disorder as slowly devastating to life
as Friedreich's ataxia, it could also reward us with
new ideas about how vital and interlinked body
processes can go wrong in the mitochondria. In
turn, this could have a profound effect on research
in a range of neurological diseases.”
Developing a safe delivery system
for gene therapy
A
group at the Universidad Autónoma de
Madrid in Spain have received funding
from Ataxia UK and the Catalan Association
of Hereditary Ataxias (ACAH) to develop a
safe method of delivering the frataxin gene
into the body, so that it can be used in gene
therapy for Friedreich’s ataxia (FA). Building
on a method developed by researchers in
Michigan, Dr Filip Lim and his team intend to
adapt their past work with mice to make a
delivery system suitable for use with people.
PhD student Alex Brown
The student, Alex Brown, will be studying what
happens in Friedreich’s ataxia as a consequence of
having too little of the important protein frataxin
inside cells. It is known that frataxin is found within
a part of the cell called the mitochondria and that
this part of the cell makes energy.
Energy production in heart muscle cells
The mitochondria of people with Friedreich’s ataxia
do not function properly, due to low levels of
frataxin, and this project will help us to understand
more about why. Specifically, Alex will look at the
heart cells of mice with FA-like symptoms to see
how the role of calcium (an important molecule for
cell communication) is affected in the
mitochondria’s energy production process. Getting
a better understanding of this process might lead to
potential new treatments.
"I am very excited that Ataxia UK has offered me
this opportunity to do research in a fascinating,
diverse and rewarding branch of biology,” says
Alex. “Not only might this research lead to better
Dr Filip Lim
Gene therapy seeks to replace a faulty copy of a
gene with a fully functional version, and could be
used to treat conditions such as FA, where the
gene responsible for the condition is known.
However, in order for the new copy of the gene to
reach the correct part of the body it must be carried
there by a specially designed delivery system
known as a vector. Part of the challenge of
developing gene therapies for use in people is to
ensure that these vectors are safe.
Delivery via the skin
In their past research, Dr Lim’s team conducted
research in mice into how the vector could be made
effective. However, as it is not currently suitable for
use in humans, they will modify this vector so it can
be injected into the skin rather than directly into the
7
Research
nervous system. This will mimic a cancer treatment
shown by another group to be safe in clinical trials,
but will instead deliver the frataxin gene. This new
vector will be initially tested in nerve cells grown in
the laboratory and in if successful this will need to
be tested in animal models. In this way, the
research will try to move one step closer to making
gene therapy a safe and effective treatment for FA.
New research
findings in ataxia
Video game training shows promise
N
ew research in Germany suggests that
whole-body controlled video games
(‘exergames‘) help to reduce ataxia
symptoms in children with degenerative
ataxia. If confirmed in larger trials, this could
lead to developing more child-friendly
rehabilitation strategies.
Ataxia UK has been funding an innovative project at
the Hertie-Institute for Clinical Brain Research,
Tübingen, together with Ataxia Ireland and the
German Hereditary Ataxia Foundation (DHAG). Dr
Matthis Synofzik and his team have been testing
whether video game training can help to alleviate
the symptoms of ataxia in children with
degenerative ataxia by improving balance and
coordination. They supposed that by using video
games children would find the treatment more fun
and would be more motivated to do it. Children and
young people with a variety of different types of
degenerative ataxia, including Friedreich's ataxia
and spinocerebellar ataxia, were recruited from the
Neurology Clinic and the Children’s Hospital,
University of Tübingen. In total there were ten
participants, aged between 8- and 20 years old.
The researchers chose three Microsoft XBox Kinect
games: 'Table Tennis', 'Light Race' and '20000
Leaks'. These were deemed to be particularly
suitable for working on whole-body coordination
and dynamic balance, two issues especially
relevant to ataxia. In order to play the game, the
child stood in front of the screen and a sensor
within the XBox console detected their movements.
Above: Experimental setup in the goal-directed leg placement task used to assess accuracy of movement.
Paricipants performed the task without balance support, but were protected from falling by a safety harness
(not illustrated)
8
Research
These were then used to control the screen player,
enabling the child to play the game with nothing more
than their own body. For example, for the game 20000
Leaks, participants stood in a virtual underwater basin
and were required to plug leaks coming from all sides
with their hands and feet, meaning that they had to
constantly reposition their arms and legs under
conditions of time pressure.
The training was conducted over an eight-week period,
with the first two weeks in a laboratory setting
supervised by a physiotherapist and the remaining six
weeks in their own home. Sessions lasted 45 minutes
to an hour, repeated three to four times per week. The
participants‘ condition was examined a total of four
times: two weeks before their first session, immediately
before they began, after their first two weeks in the lab
and right at the end of the course after their six weeks
at home.
Motion capture
Examinations at these time points were video recorded
so they could be independently assessed by a
specialist who was blinded to the time point of
assessment, thus preventing rater bias. In order to
assess the effect of the training on ataxia the
researchers used a standard assessment tool (called
SARA) that has been designed specifically for people
with ataxia. The SARA scoring system measures the
severity of ataxia symptoms. In addition, a
physiotherapist and a motion capture system assessed
the child’s balance based on their gait when walking
normally and the accuracy of their movements in a leg
placement task (pictured opposite). Participants were
also asked to self-report their own confidence
regarding their balance and how motivated they felt
during the sessions.
All participants were highly motivated during the
training and enjoyed the sessions. Comparison
between their before and after scores showed
significant improvements, particularly for gait and
posture. Their movements became more controlled
with less sideways sway, a more consistent gait,
improved balance and a reduced risk of falling. This
kind of training could therefore potentially help to
alleviate the symptoms of many different types of
ataxia.
However, this was a small-scale preliminary study, with
just ten participants, and the findings would need to be
confirmed in a larger trial. The Ataxia UK-funded
research team is currently investigating whether
improvements shown in this study are also seen in
children with more severe cases of ataxia, as this study
involved children with less advanced ataxia.
A fun and functional addition to physio
This research shows that intensive training with video
games may provide a fun yet functional addition to
physiotherapy for children. While supervision is
required initially to choose the right games and to
monitor adequate initial learning of appropriate
movement strategies, it can be eventually done
in the comfort of the childrens’ own home, and
provides a promising new way to alleviate the
symptoms of ataxia. Ataxia UK and the
research team plan to produce an information
leaflet with more detail about this research.
Multiple sclerosis drug may help
treat spinocerebellar ataxia 7
R
esearchers lead by Dr Annie Sittler at
the Pierre-and-Marie-Curie University
in France have recently published results
that show some promise for treating
SCA7 with the use of a drug normally
used to treat multiple sclerosis.
It has long been known that in SCA7 a toxic
accumulation of mutant ataxin 7 protein builds
within nerve cells which become damaged. In
this study, a mouse model of SCA7 (that has
similar symptoms to people with the condition)
was treated with the drug interferon beta. This
drug modulates the immune system and is
normally used to treat multiple sclerosis.
Improved balance and coordination
Results showed that interferon beta was able to
reduce accumulation of the toxic ataxin 7
protein within cells and also to improve balance
and coordination in the SCA7 mouse model.
These results are encouraging and suggest that
interferon beta could be used to treat people
with SCA7. However, the researchers say that
further studies need to be done in the
laboratory before this medication can be tested
in patients with SCA7 in clinical trials.
Take part in genetic research
W
e have been approached by
researchers at University College
London to help them recruit 50 families
with unidentified ataxia. This is part of a
£100 million Government-funded
research project by company Genomics
England that aims to sequence the entire
genome of people with rare conditions in
which the genetic cause is unknown.
We are delighted that the team in London is
proposing to include people with ataxia in this
study. However, they need to recruit families
very quickly–within the next couple of weeks–so
if you are interested in helping with this
research, please read the letter from the team
which you can find in the 'Taking part in
research' section of our website, or contact
Joshua Hersheson on [email protected]
or 020 3448 4069.
9
Fundraising
Let’s take another look at funds raised since April, then.
Top left: Congratulations to Kerry Bull (pictured
with members of the Derby Support Group) and
the organisers of the Belper Games. The event
hosted an ‘it’s a knockout style’ competition and
fayre which raised a whopping £4,000!
Bottom left: Jo Cummings, Martin Loose, Jordan
Neves and Becca Loose held a Hadrian’s Wall
sponsored walk and raised £1,136.
10
– hooray for all concerned!
Top right: Taryn Cotton pictured with her horse
persuaded the North Lizard Riding School to hold
a sponsored ride which raised a fantastic £300.
Bottom right: 100 riders and15 volunteers
survived the hills of Snowdonia on a sunny
Welsh weekend for this year’s Big Bad Bike Ride.
As always the event was a tremendous success really rather wonderful - raising over £75,426!
Huge thanks go to organiser Graham Kennedy.
We look forward to the York ride in 2014.
Fundraising
Harriet Bonney;
Paul Ingham;
Phillip Ingham. Put a spring in your step with the next Chance to Win draw!
Top right: The family and friends of Andy Cook
have been raising money in his memory. Mike
and Tim Warren cycled 650 miles to the home
nation’s rugby grounds in their ‘4 Nations 4 Andy’
challenge raising a stunning £4,514 and the
warriors from the Authentic Food Company
raised an epic £5,560 through their Tough
Mudder Challenge (pictured).
Special thanks and appreciation go to:
Niamh Cassidy whose charity evening raised
£374 for us
Ÿ Alicia’s Fun Day in Loughborough raised an
Top left: Stuart Gibson completed the
Northampton Half Marathon in memory of his
cousin Dean Mortimer, who passed away earlier
this year, and raised a wonderful £1,751.Our
thanks also extend to Dean’s parents for sending
us £975 in friend and family donations.
Bottom left: James Kent and the Pool to Pool
riders undertook a bike ride from Hartlepool to
Liverpool (well, West Kirby actually - that's an
extra 10 miles) and raised a terrific £5,612.
amazing £611 this summer. Alicia’s family have
been holding events for the past 3 years and
have raised nearly £7,000! A special mention
for Alicia’s Cousin, 12 year old Kian Newton,
who raised £36 at this year’s event by shaving
his head
Ÿ Our Chester Marathon runners: Mark Williams
(£1,770), Sophie Everett (£603) and Paul
Halsall (£1,227)
Dan Mallerman for overcoming the Survival of
the Fittest assault course, raising £811
11
Fundraising
Boots on Tour
S
turdy shoes were needed for ‘Boots on
Tour’ which took place in May. The event
saw musician Steve Bonham and friends
conquer Hadrian’s Wall with footsteps and
song. The group stopped along the route to
play a number of gigs which helped to raise
£2,755, a grand total to shout about! Steve
Bonham also released a single in aid of
Ataxia UK called ‘Steady,’ which is available
to download from his website at
www.stevebonham.net/steady
Steve Bonham playing ‘Steady’.
Return of the
Cycling Doctor
Y
ou may have been following the progress
of cycling doctor Andreas Tridimas
(pictured below, second from right) in issues
181/2, as he cycled the length of the south
American continent. As we went to press he
had raised a cracking £5,187 for Ataxia UK,
and here he is to tell us about his experience:
So here I am back in Liverpool. Cycling the length
of South America as part of the Cycling Doctors is
just a distant memory. It turned out to be the
hardest thing I have ever done. Yet at the same
time it was easily the best thing I have ever done,
and the sense of achievement on finishing, was
something I have never experienced before and
probably never will again. Six months of waking up
each day and cycling until sunset across some of
the most epic scenery this planet has
to offer.
There were times, particularly in Bolivia, when it
became a real struggle. Two bouts of foodpoisoning had left me weak and, when combined
with the effects of altitude and the relentless uphills,
it took on a whole new level of pain. However,
whatever I now attempt in life could never be as
hard as it was then. Such physical challenges
toughen the mind and make coping with adversity
in future much easier.
Inspired by my friend Phil
I set out wanting to raise as much money as I could
for Ataxia UK. My good friend Dr Phil Mchale who
has Friedreich’s ataxia had been my inspiration to
do a charity cycle. Phil was only diagnosed with
this condition in his fourth year of medical school,
yet he continued on into his second year as a
qualified doctor when finally he had to accept that
his lack of co-ordination was making it too difficult
to continue working.
His ability to just get on with life and never moan
about the debilitating symptoms of his condition, is
something I truly admire. Hence, given the lack of
treatments, I just had to contribute something
hopefully to develop future treatments for people
like Phil. Thank you to everyone who supported
and donated to the Cycling Doctors along the way!
Andreas
12
Fundraising
International Ataxia Awareness Day
A
taxia UK loves our awareness raising
ambassadors and once again they pulled out
all the stops to make International Ataxia
Awareness Day 2013 a big success. Below is a
selection of pictures from events that took place
around the UK
Right: Becky Haworth’s collage of her
schoolfriends’ wrists
Left: Sheffield Branch’s outing to the Yorkshire
Wildlife Park
Right: North West London Branch’s bake sale at
the National Hospital of Neurology and
Neurosurgery raised £213
Left: Mhairi Jarvie and friends in Dumfries at their ZipWire
challenge which raised £1,049
Right: The Wheely Wobbly Bridges Walk
in Central London sponsored by Fidelity
Worldwide Investment
25 September has come and gone but the
challenge of raising awareness goes on.
To get involved, please call our team on 020
7582 1444 or email us at
[email protected]
13
Health
Left to right: Marios, John, Gail and Barry
Doctors’ Q&A
This time Doctors’ Q&A took place at Annual
Conference in Manchester. The session was
chaired by Professor Barry Hunt and on the
panel were two consultant neurologists,
Professor Marios Hadjivassiliou, director of
the Sheffield Specialist Ataxia Centre, and Dr
John Ealing, from Salford Royal NHS Trust,
and ataxia nurse Gail Eglon, from the
Newcastle Specialist Ataxia Centre.
Together the panel answered questions sent
in advance and asked during the session.
Q
My brother goes to physiotherapy and
hydrotherapy and he enjoys that. Are
there any results or studies that have been
completed which show that specific
physiotherapy, hydrotherapy or increased
amounts of exercise would help in any way
to reduce the aggressiveness of Friedreich’s
ataxia (FA)?
A
Marios: There was a study from Germany
published in Neurology looking at physiotherapy
in ataxias. It was not specific to FA, but any ataxia.
It was an intensive programme of physio and it
showed that it did provide benefit for patients with
ataxia. If you maintain muscle activity you will keep
your muscle bulk as much as possible. So, yes,
there is evidence there that it is beneficial and is
something that I am always keen to prescribe.
14
A
John: Yes, definitely. I think proving benefit in
physio trials is hard, but it’s very logical that
advice to keep you as mobile as possible would be
good. Physiotherapy doesn't seem to do any harm.
So yes, always physiotherapy.
Q
Is it possible for ataxia to be genetic
without the patient having ever inherited
it from somebody? If so, could it be passed
on to their offspring?
A
John: The simple answer is yes, certainly. The
Royal Institute predicted that when we are made,
we develop about 60 new ‘spelling mistakes’ in our
genes that Mum and Dad didn't have. The genetic
information our parents give to us is a book about
three billion letters long, and if you copy three
billion letters you will make mistakes from one copy
to the next. So, unsurprisingly, we're all full of
spelling mistakes. If you have a spelling mistake
that happens to occur in a gene that can cause
ataxia, then you will have ataxia whereas your
parents will not.
Whether you pass on that spelling mistake to your
own children depends whether that spelling
mistake has affected your reproductive organs. If it
happens early in development, every cell in the
body will contain the spelling mistake, and then you
have a 50:50 chance or it may be certain that you
will pass it to your children. If, however, that
spelling mistake occurred later in development, and
it just affects part of the body, but your ovaries or
testes are not affected, then it is possible that you
will not pass it on. As a rule, if you’ve got a spelling
mistake that’s new to you, it is likely that all your
Health
cells will be affected and so you will have a chance
of passing on that spelling mistake to your offspring.
and certainly not the easy thing that the press
sometimes portrays it as.
Q
I’m having problems with my bowel, and
my GP and the doctors at the hospital
blame it on my FA. Is there any knowledge
about whether FA does affect the bowel?
I have gluten ataxia and angina. The
soles of my feet get red hot, which is
very uncomfortable and can make sleeping
difficult. Why am I having these problems
with my feet? Is it part of gluten ataxia?
What can be done about it?
A
Marios: A lot of people with gluten ataxia will
also have neuropathy, by which we mean that
they have damage to their nerve endings. This
sometimes results in loss of sensation or
unpleasant sensation, and sometimes in pain. So I
suspect that your symptoms may be part of the
gluten ataxia. So what can be done about it? We
know that with gluten ataxia there are a number of
different medications that can be used for symptom
relief, which can get rid of or reduce the intensity
of the pain. This group of medications can be
prescribed either through the neurologist or
your GP.
Q
Are people with idiopathic cerebellar
ataxia tested for all 36 SCAs that are
known?
A
Marios: The simple answer is no. What we do
is test for a group of ataxias that are both easy
to test for and some that are common in the UK.
We test for Friedreich’s ataxia and SCA6, which are
the commonest genetic ataxias in the UK, and also
SCAs 1, 2, 3 and 7. These groups of tests are
relatively cheap and readily available in genetics
labs in the UK.
As you say, there are probably 36 different SCAs.
Soon we will be able to test for many more of the
ataxias where the genetic defect is known, with
new machinery for genetic testing. It will cost
something like £1,000 per patient. We will, I hope,
learn whether some of those ataxias are common
or rare and so will be in a better position to identify
them and decide whether it is worthwhile testing all
UK patients, including the patients with idiopathic
sporadic ataxia. I anticipate that in the next year or
so we will be in a much better position to
genetically characterise at least some of the
genetic ataxias and possibly some of the familial
ataxias and possibly some of the idiopathic
sporadic ataxias that may also be genetic in origin.
A
John: You can read the sequence of the
human genome relatively cheaply nowadays,
and that is a really good way of finding out all the
rare causes of ataxia. The problem is that you have
lots of information and you have to try to say what it
means, so the next big thing is to try to interpret it.
What does it mean? How does it cause disease? I
think we will get there, but it is not an easy thing
Q
A
John: I wouldn't wish to connect the two. There
is a natural assumption that once you get a
diagnosis everybody seems to ascribe everything
to that rare diagnosis. I personally would look at
other causes as I haven't seen it in any FA patients.
A
Marios: I agree with John in the sense that it’s
not common. Therefore you ought to look for
other causes. Bladder dysfunction is associated
with FA, but bowel dysfunction less so. What you
can do about it, in terms of symptom relief,
depends on what the precise symptom is, and
medication may be helpful.
A
Gail: You can be referred to a specialist for this
kind of problem, and it sounds like you would
definitely benefit from that .
New medicines
for serious
conditions
A
taxia UK is a member of Genetic Alliance
UK, the national charity of over 150
patient organisations supporting all those
affected by genetic conditions. As part of a
European research study, Genetic Alliance
UK and researchers at the University of
South Wales want to understand how
patients perceive the risks and benefits of
medicines. The work is important to ensure
that patient views are valued in the
regulation of new medicines.
If you are 18 or older, and you are a patient or a
carer, you can help by completing a short online
survey before the end of December 2013. The
survey includes questions about your experience
with medicines, your view of the risks and benefits
associated with medicines, and how you think
medicines should be regulated.
To complete the survey in English, go to
www.survey.glam.ac.uk/englishsurvey or visit
the Ataxia UK website for a list of links to the
survey in French, Dutch, Spanish, Romanian,
German, Italian and Polish.
15
Services
Who cares?
I
n November 2011, Daniel Roque-Hall was
arrested for attempting to smuggle cocaine
into the UK. Following trial, Daniel – who has
advanced Friedreich’s ataxia – was
sentenced to three years in prison. However,
while inside, Daniel became seriously ill and
Ataxia UK became involved in the campaign
to get Daniel the care he needed. Here, we
speak to his mother, Anne Hall, about her
experience of what happened.
Ataxia UK Friend, Anne Hall
How did Daniel come to get arrested?
Daniel had been out of the country with his carer.
He was stopped at immigration because he’d been
found with a large quantity of cocaine inside his
wheelchair. It was a huge shock. He said
immediately that he was responsible for it, which
was true. So that began a whole judicial process:
being questioned, being charged, going to court...
He finally went to prison in June 2012.
Given the circumstances of his ataxia, why was
Daniel sent to prison?
The judge had been concerned about whether
Daniel could be adequately looked after in prison; a
‘category B’ prison has quite harsh terms. If they
couldn’t meet Daniel’s needs, then the judge
couldn’t send him to prison. But the prison said that
they could manage.
There were reports from Daniel’s neurologist and
endocrinologist and GP which said that without his
daily exercises, he would deteriorate quite quickly.
Daniel has specialist equipment at home. He goes
to the pool very regularly. But without all of this he
would be a) in a lot more pain and b) would suffer
from deterioration in function.
16
What happened when Daniel was inside?
Although he was at high risk of falling and spasms,
he was left alone on a medical examination couch.
He spasmed and fell off. Under protest, they took
him to hospital for a scan. He was then placed in a
care home for the frail elderly and people with
Alzheimer’s. He became unconscious with
hypoglycaemia. Blood tests showed that he had
developed thyrotoxicosis. The prison failed to
respond to his needs in terms of exercises. He had
no access to any kind of occupational activity. He
was placed on a wing that had just 20 psychiatric
patients and him.
After three weeks Daniel was in atrial fibrillation,
meaning he had a fast, irregular heartbeat. He kept
asking to go to hospital and to see a cardiologist.
The request was ignored. He lost a huge amount of
weight, he couldn’t swallow, his speech was worse,
he was shaking. He didn’t shake like that before.
He was very ill.
Did the prison provide any care?
They recognised that Daniel needed 24-hour care,
so he had a healthcare assistant. But not like his
assistants at home, who do all his exercises and
use the equipment. They didn’t understand that if
Daniel has atrial fibrillation, that he needs to go to
hospital straight away, because he’s got
cardiomyopathy–heart muscle disease. They had
him sliding out of his wheelchair, his back was
arched and his feet and legs were all in the wrong
position. It had all been explained already, the
importance of him being properly supported in his
back, and I went through it with them again, but
they still did it all wrong.
Why do you think they coped so badly?
The healthcare staff were used to dealing with
acute illnesses such as appendicitis or a bad throat.
But principally they were used to dealing with
people who were acutely psychiatrically ill. They
had no experience whatsoever really of any kind of
severe disability, and none of ataxia. I don’t think
they had any inkling of the complexities of a multisystem disease. There was no recognition of the
symptoms associated with his rapid deterioration
and so that culminated in him ending up in
intensive care and a long period of hospitalisation
after seven weeks.
What do you think the prison could have done
differently, to make sure that Daniel got the
care he needed?
Daniel needed to be able to direct his care. He
needed to be able to have his equipment there,
which the prison originally said they would have.
He should have been in charge of what exercises
he needed. When he did them, how he did them.
Because, as anybody with ataxia knows, what you
need at different points in the day is going to vary,
and you are the expert in that. For Daniel to have a
punishment that fitted his crime, he probably
needed to be under house arrest; a form of
Services
imprisonment, but with the care happening in
that environment.
How is Daniel now?
Daniel is much better. He came out of both hospital
and prison in February. He’s been through a lot:
prison, intensive care, being under guard for 24
hours a day – that has a mental effect. It took him a
while to get over that. But he is now physically and
mentally much stronger and he has said himself
that he is a much calmer and more reflective
person. Prior to what happened, he felt he might as
well take all the risks in the world and he didn’t care
about anything. But he has become reconciled to
the limitations in his life – as we all have to – and
he really appreciates what he has.
products with the Energy
Saving Trust’s
recommended products
label, for the most energyefficient goods.
Bright ideas for
saving energy
and money
W
ith winter on our doorsteps and fuel
costs rising, using less energy can
certainly save money, but it’s also vital that
you have enough light and warmth. Here are
some tips on some of the little things you can
do right away to help keep you warm and
safe, and not too out-of-pocket.
Draught-proofing your home
You can greatly improve your comfort by fitting
draught-proofing strips and draught excluders
around doors, and by fitting covers to letter boxes
and keyholes. But do leave some ventilation to
reduce condensation and to prevent the build-up of
waste gases from fuel-burning appliances. And be
sure to install a carbon monoxide detector in case
air vents become blocked.
Hot water and central heating
Get to know how the timer and thermostat controls
work on your boiler system. By setting the controls
accurately you can make sure that you only have
heat and hot water when you need them. Don’t set
the water temperature or heating too high, but
remember that being warm enough is important to
your health. Try to adjust your heating as the
weather changes.
Lighting
Incandescent lightbulbs have been phased out, so
you will soon only be able to buy energy-saving
ones. These are more expensive, but they use up
to 80% less electricity.
Turn lights off when you leave a room, but not at
the expense of your safety. Keep stairs and other
areas well lit to reduce the risk of falling.
Electrical appliances
Switch off appliances rather than leave them on
stand-by, and unplug chargers when they’re not in
use as many still use electricity when they’re
plugged in. When you replace appliances, choose
Left: The Energy Saving
Trust’s recommended
products label.
In the kitchen
Some general rules include only boiling the amount
of water you need for hot drinks, de-scaling your
kettle regularly, not putting hot food in a fridge or
freezer as it takes more energy to cool it down, and
defrosting frozen food in the fridge overnight to
reduce the cooking time.
Washing and laundry
For the dishes, wash up in the sink or in a bowl,
rather than under running water. For clothes, wait
until you have a full load before running the
washing machine, and use a lower temperature. If
you use a high speed spin, clothes can come out
almost dry.
Did you know..?
Ÿ If you are on your energy supplier’s Priority
Services Register, you may be eligible for a free
energy check. Speak to your supplier to find out.
Ÿ The Thomas Pocklington Trust produces a free
guide called ‘Choosing energy saving light bulbs
for your home’. Contact them on 020 8995 0880
or download the guide from www.pocklingtontrust.org.uk.
The Energy Saving Trust gives free, independent,
expert advice on saving energy in your home,
from Monday to Friday 9am to 8pm or Saturday
10am to 2pm. Contact 0300 123 1234 (calls are
at the national rate) or find them online at
www.energysavingtrust.org.uk.
If you’re over 60 and having difficulty paying your
energy bills, you can contact Age UK Advice on
0800 169 6565.
Many thanks to Alan Morris from the Hampshire
support group for compiling the information.
17
Adapting to life
My adaptive A-Z
Matthew Law
I
n the last issue I discussed a particular type
of wheelchair that had made life a little
easier. Every single aspect of one’s life is
affected when you are faced with a diagnosis
of ataxia. I have found that the best way of
dealing with it is to deal with each aspect in
isolation and deal with it only when it causes
you frustration or pain. I think it’s fair to say
that I am fiercely independent and at no stage
in my life have I physically depended on
someone else unless there has been
absolutely no alternative. Even my PA’s I
employ to help me, not to do things for me.
When I visit family and friends I accept that I must
lose that independence for a while. But I thought it
may be a help to all Ataxians out there if I went
through all the devices/aids and ideas in my home
to show you how I manage to stay independent
while there. Not all are designed as aids specifically
for disabled people, but they are a help to me.
These are listed in alphabetical order.
is now remotely opened by pressing a button. But
do make certain to have working smoke and carbon
monoxide detectors. For more about fire safety, see
www.nidirect.gov.uk/fire-safety-in-the-home.
Floor: Problems moving around? I began to find it
more of an effort to get around on my carpet so I
had a vinyl tiled floor installed in my bungalow.
Home-delivered meals: If you have problems
preparing your own food, you can get a company to
deliver very varied and tasty meals to your door. I
use Wiltshire Farm Foods (who deliver nationwide)
but there are others which you can find by googling
‘home-delivered meals’. My delivery is free and they
put it straight in the freezer. The meals can go
directly into the microwave from the freezer (no
piercing required) and they are simple to open, even
when piping hot. Just try their chilli con carne
(£3.20) or their Lancashire Hotpot (£3.30)!
Kettle tipper: Discussed in Issue 181
Leg lifter: Problems getting dressed? A leg lifter
enables me to get my clothes on in the mornings. It
is a straight stick with a ‘lasso’ type piece of material
on the end which enables me to lift my foot up using
my arms.
Adjustable bed: I relieve pain in my back by
sleeping with my back bent. Both ends of the bed
can be raised or lowered at the push of a button.
Clear floor space: Sounds simple but moving
around in a wheelchair is much quicker, easier and
less stressful if you don’t need to constantly move
things out of the way. My cat certainly knows what
she has to do when I shout ‘Move’!
Doors: I removed all internal doors when I first
moved in (except the bathroom!) and my front door
Fabric (pictured above) and straight stick leg
lifters are available on
from around
£5-£12.
Letterbox net: I have a deep net/bag attached to
the inside of my letterbox to prevent letters from
falling to the floor.
Mats: I have a rubber ribbed mat by each place that
I transfer to and from to stop my feet slipping when
I’m getting in or out of the wheelchair.
Monkey poles: Aka floor to ceiling poles or
‘SuperPoles’. Again I use these to help me transfer
to and from my wheelchair. If you search for ‘floor to
ceiling poles’ online, you should find several
retailers with poles in the range of £40-£200 each.
Matthew and his little sister Louise.
18
Outside tap: Problems watering your garden?
Simply get an outside tap installed in your garden to
enable you to do the watering. (Be sure to leave the
hose within reach.)
Opportunities
Pull chords: Make sure all your blinds and curtains
have pull-chords that you can reach. But do please
be aware that these can be dangerous if you have
young children in your home.
Reclining sofa. When I fancy a long TV-watching
session, I transfer to my sofa which has a button on
the side which automatically raises my feet and
lowers my head so I can sit or lay in comfort.
Remote switches: I can turn on and off my TV and
side lamps when in one position by having each
‘device’ controlled by a remote switch. This saves
me circling the house each night turning all my lights
off. Take a look on www.ebay.co.uk for a variety of
switches in the ‘Home, Furniture & DIY’ section of
the website.
Cornberg
equipment and
adaptation grants
Shower instead of bath: For many years I have
been showering instead of having baths, as I had
problems getting in and out of the bath. If you are a
council or housing association tenant, then your
housing manager will arrange this for you.
Sinks and tables at the right height: An inch too
low or too high can cause a wheelchair user a whole
range of problems. You will learn to live with the
discomfort but why not get it right first time?
Window winders: Problems opening and closing
windows? Discussed in issue 182.
If you have ataxia and there is one particular issue
you would like me to discuss concerning your ataxia
then please let me know by emailing me on
[email protected] or by finding me
on facebook.
Jerry Farr Travel
Fellowship 2014
T
he Cornberg Fund was made possible by
the generous legacy left to Ataxia UK by
the writer Catherine Gaskin Cornberg,
whose sister had ataxia, to assist people
with ataxia with mobility within their homes. It
specifically exists for the benefit of people
with ataxia to assist their mobility and
comfort by helping to fund the purchase of
equipment and adaptations, for example for
bathing and toilet facilities and other practical
amenities to help improve quality of life for
people with ataxia.
The fund helps people affected by ataxia as their
primary condition with the cost of home equipment
(this does not include wheelchairs) and adaptations
they need as a direct result of their ataxia, which
they cannot afford to buy themselves and for which
they cannot get statutory help. Grants for people
with ataxia as a secondary condition will be
discretionary. All grants we award should improve
the quality of life of people with ataxia and those
who care for them voluntarily, by helping to
purchase adaptations and equipment of real and
practical benefit to them, enabling them to live
fulfilling and independent lives and contributing to
their physical and emotional wellbeing.
Contact [email protected] or 0845 644 0606.
The next closing dates for applications are:
Ÿ 28 February 2014
Ÿ 31 May 2014
The Jerry Farr Travel Fellowship is
generously funded by the friends and family of
Jerry Farr, who had Friedreich’s ataxia and
passed away in 2007 after a life of travel and
adventure around the world.
D
on’t send your applications in just yet
kids, but do get your thinking caps on
and get ready to tell us about your trip of a
lifetime. The next deadline for our annual
Fellowship award will be on 29 April 2014,
and we’ll be accepting your applications from
February. Look out in the spring edition of
the Ataxian for full details, but just to whet
your appetite, you could win a total of up to
£6,000 for both yourself (if you have ataxia)
and a carer by telling us where, why and
how you’d take advantage of this fantastic
opportunity—the more adventurous the
better, in any way big or small.
19
We would like to thank everyone who gave a
donation in memory of a loved one.
Leaving a legacy in a will is one of the most enduring ways to make an impact. Much
of our funding for research has been made possible by the foresight and generosity
of our Friends and supporters. We currently have more than 20 research projects
underway, all of which are funded, at least in part, by gifts left in people’s wills.
Your legacy can mean hope for the future.