LATEST RESEARCH FUNDRAISING NEWS EXPERT ADVICE REGIONAL ROUND-UP For support Tel: 0800 652 6352 Email: [email protected]Web: www.muscular-dystrophy.org Autumn/Winter 2009 GOLDEN YEARS Katherine Jenkins and friends mark our 50th anniversary LATEST RESEARCH FUNDRAISING NEWS EXPERT ADVICE REGIONAL ROUND-UP VITAL SURGERY Three patients speak about their experiences BRIDGING THE GAP US and UK researchers unite in search of new treatments SHOW US YOUR MUSCLE! Join our new regional muscle campaign Leading the fight against muscle disease
Transcript
latest ReseaRch FundRaising news eXPeRt advice RegiOnal ROund-uP
For support Tel: 0800 652 6352 Email: [email protected] Web: www.muscular-dystrophy.org
Autumn/Winter 2009
gOlden yeaRsKatherine Jenkins and friends mark our 50th anniversary
latest ReseaRch FundRaising news eXPeRt advice RegiOnal ROund-uP
vital suRgeRy three patients
speak about their experiences
bRidging the gaP
us and uK researchers unite
in search of new treatments
shOw us yOuR
muscle! Join our new
regional muscle campaign
Leading the fight against muscle disease
WelcomeWelcome to the autumn edition of
Target MD.
This year’s Young Pavement
Artists Competition attracted
over 28,000 entrants across all
age groups, making it our most
successful event yet. Well done
to everybody who took part, to
all the winners and runners-up
in the different categories and to
the overall winner Tally Murray,
aged five, whose drawing of a tiger wowed the judges.
You can read about research developments on page
16, including news of emerging trials. For more in-depth
information, visit the research section of our website
www.muscular-dystrophy.org/research It’s full of news
and includes a searchable database of existing clinical trials.
We are giving families a voice to improve their local
healthcare by setting up new Muscle Groups throughout the
country. This is ongoing and mirrors the successful young
Trailblazers groups that have been such a feature this year. You
can read about how you can get involved and really get your
voice heard on page 8.
We have a busy autumn ahead with conferences in Bradford
(5 September) and Glasgow (12 September) ahead of us. We
also have the Tesco National Collection Days on Friday 25 and
Saturday 26 September, so please help if you can or display
the poster enclosed with this mailing.
Many congratulations to David Jackson on being awarded
an MBE in the Queen’s birthday honours list for services to
muscular dystrophy. David and his wife Ann have supported
our cause for over 44 years, so it’s a well deserved recognition
of their commitment and support. Thank you David and Ann
The Muscular Dystrophy Group of Great Britain and Northern Ireland
61 Southwark Street, London SE1 0HL. Registered Charity No. 205395 and SC039445
Advertising enquiries: Bob Jalaf at [email protected] / 020 7878 2300All other enquiries: If you would like to contribute to TargetMD or for any other enquiries, please contact Ingrid Ambrose at [email protected]
Disclaimer While every effort has been made to ensure the information contained within TargetMD is accurate, the Muscular Dystrophy Campaign accepts no responsibility or liability where errors or omissions are made. The Muscular Dystrophy Campaign does not necessarily endorse the products advertised and no responsibility can be accepted for claims made by the advertisers. The views expressed in this magazine are not necessarily those of the charity. ISSN 1663-4538
Published on behalf of the Muscular Dystrophy Campaignby Engage Publishing Ltd www.engagepublishing.co.uk
The magazine for supporters of the Muscular Dystrophy Campaign
34Philip Butcher, Chief Executive
Chief exeCutive PhiliP Butcher has spoken at
a press conference on the effects of the
recession on charitable funding into research.
three-quarters of medical research charities
predict the economic downturn will greatly
affect their life-changing work, according to a
survey stresses need to protect reseArcH funding
DevelOPMeNt Of A new centre to
support treatment, training and
business continues in Newcastle.
We are now looking for local
people to help steer the kind of
courses we will run.
MD Enterprises North East is looking for a broad range of people
affected by muscle disease, possibly at the end of their schooling and
thinking about what to do next, perhaps looking to change jobs or in
need of a new skill or ways of utilising existing skills. this could create
significant opportunities for people in the North east.
if you’d like to know more, please call Carol lawson on
From left to right: Overall Winner five-year-old Tally Murray’s prize-winning tiger; Originality winner Cameron Kelly; 7-11 Winner James Jarvis
The judges decide
For support call 0800 652 6352
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5
4
6
9
7
810
The Muscular Dystrophy Campaign together with families affected by muscle disease and health professionals have formed regional Muscle Groups to campaign for better services across England
Families across England have joined forces
to form 10 campaigning Muscle Groups,
aimed at improving vital NHS services in
their regions. To support the launch of the
groups, the Muscular Dystrophy Campaign has
published clinician-led reports in every region,
using evidence gathered from Freedom of
Information requests, as well as surveys of local
patients and their families. In almost all of the
regions, these reports have been presented to
NHS decision-makers from the Specialised
Commissioning Groups, with a request that they
undertake an urgent review of services in order
to improve specialist care and support.
Influence in ParliamentThe Muscular Dystrophy Campaign has called
upon local MPs, who have also lent their support
to the regional campaigns. Local MP for Solihull,
Lorely Burt, tabled a motion in Parliament about
the West Midlands Muscle Group. She said,
“Having met with local patients campaigning
for improvements in access to specialist care, I
will do all I can to ensure the local Muscle Group
receives support in Parliament. All families living
with muscle disease should be able to access
the right care, expertise and specialist support.”
John Penrose, MP for Weston-super-Mare,
8 TargetMD
“The South West Muscle Group has had fantastic success in winning new investment in essential services”
Campaigns
New Muscle Groups fight for better services
Together we’re stronger: a gathering of the West Midlands Muscle Group
New Muscle Groups in England
North West Launched June 09, 25 members
West Midlands Launched April 09, 35 members, campaigning on wheelchair provision
South West Launched April 09, 30 members, campaigning on hydrotherapy and respite care
South CentralLaunched May 09, 30 members
South Coast East Launched May 09, 25 members
London Launching soon
East Launching soon
East Midlands Launched July
Yorkshire & Humberside Launched July
North East Launched June 09, 20 members
www.muscular-dystrophy.org
highlighted the success of the Muscle Group in
his area. He said, “The South West Muscle Group
has had fantastic success in winning new
investment in essential services for people living
with muscle disease. I will continue to support
their work.”
NHS forced into actionThanks to the Muscle Groups and the Muscular
Dystrophy Campaign’s hard-hitting reports on
local services, we are starting to make an impact:
• The East Midlands Specialised Commissioning
Group called an urgent meeting with local
Primary Care Trusts and clinicians in July to plan
a way forward.
• The Muscular Dystrophy Campaign met with
Primary Care Trusts in the South Central region
to present our report on local services.
• The West Midlands NHS Specialised
Commissioning Group is reviewing local
services for people with muscle disease.
TargetMD 9
Campaigns
ITV’s London Tonight interviews Trailblazer James Lee
Join our campaign or simply tell us about your experiences by calling our Director of Policy and Campaigns
Trailblazers TaCkle aCCess To higher eDuCaTionIn the last issue of Target MD you read all
about End of the Line, a campaign to
improve access to public transport
organised by our Trailblazers, the young
campaigners’ network fighting for the
rights of disabled people. Their campaign
continues to make an impact as the
Minister for Transport, Paul Clark MP, has
agreed to meet with the Trailblazers to
discuss what the Government can do to
address the problems uncovered. The
Trailblazers are now busy working on their
next campaign, fighting for better access to
universities and higher education. Our
young campaigners have already
investigated university websites and
spoken to NUS Disability Officers, in order
to find out whether the information offered
to disabled students is up to scratch. Watch
out for updates on their work.
The fighT in WalesMembers of the Welsh
Assembly met with
families and clinicians
in June for the second meeting of the
Cross Party Group on muscular dystrophy,
chaired by Dr Dai Lloyd AM, with Dr Mark
Rogers, a Clinical Geneticist from Cardiff,
giving a presentation. The Welsh Muscle
Group is writing to Assembly Members to
highlight the problems facing Welsh
families. We are also seeking a meeting
with Welsh Health Minister Edwina Hart.
lobby Taking plaCe aT sCoTTish parliaMenT On 23 September from 6:30pm, families
and patients in Scotland will join forces
for our next lobby at the Scottish
Parliament, hosted by Christine Grahame
MSP. The lobby follows the launch last
year of the Building on the Foundations
campaign in Scotland. We need your
support, so please get in touch!
funDing suCCess in norThern irelanDFollowing our meeting with officials
working with the Health Minister in
Northern Ireland, we are pleased to
report that NHS funding was agreed for
the post of a Muscular Dystrophy Care
Advisor. We are now working with
clinicians in taking this forward. Watch
this space!
✱ Join your local muscle group now!
Please get in touch with your local Muscle
Group to campaign for better services - we need
your support. Call Alexandra Crampton on
020 7803 2865
UK UPDATE
10 TargetMD For support call 0800 652 6352
Mary Smith, who had limb-girdle muscular dystrophy, left a generous legacy to the Muscular Dystrophy Campaign when she died. Here, her sister Elizabeth recalls Mary’s hopes that such donations will aid the fight against muscle disease
In memory of Mary
Interview
Elizabeth and her sister Mary shared a lot
in their lives – their home, their holidays
and their support for the Muscular
Dystrophy Campaign. The one experience they
didn’t have in common was their health. Mary
was diagnosed with limb-girdle muscular
dystrophy in her twenties, while her sister and
their brother remained free of the condition.
“Mary had a great sense of humour and never
gave in to her disease. She only packed in doing
the ironing a few weeks before she died four
years ago, at the age of 68,” remembers
Elizabeth. “Life treated Mary cruelly but she was
a very positive person and did a lot with her life.
She had a successful career as a computer
analyst. She also did all of her own cooking and
baking at home. She rode a Lambretta scooter
and then drove an automatic car, which she only
gave up when she retired, at the age of 55. The
doctors at Addenbrooke’s Hospital were
amazed at how she managed, and said that
she’d forced them to rethink what having limb-
girdle muscular dystrophy could mean.”
Both sisters contributed financially to the
Muscular Dystrophy Campaign over the years.
Elizabeth has set up a direct debit to donate
money each month, while Mary would send in a
large amount whenever she received a bonus at
work. “Mary’s attitude was that she couldn’t
spend the money anywhere else, so she
thought it should go where it could do some
good,” says Elizabeth. “Mary hoped that her
money would help others in their fight against
muscle disease, and possibly even benefit future
members of our own family. We have had aunts,
uncles and a cousin with limb-girdle muscular
dystrophy, although none as seriously as Mary.”
Mary’s disability didn’t prevent her and
Elizabeth from enjoying many holidays together.
The pair travelled to Spain, Austria and Norway
while Mary was still able to walk, then toured
Britain from Land’s End to John O’Groats once
her mobility became more of a problem and
she began to use a wheelchair. Elizabeth has just
returned from a trip to North Cape in Norway, a
country she first visited with her sister in 1974.
A gift of hopeIncluding a gift in your will to the Muscular
Dystrophy Campaign is more than a donation.
It sends out a strong personal message of
hope for the future. Gifts like these currently
account for more than £1 million of our annual
income. This enables us to provide care and
support for those affected by muscle disease,
as well as invest in vital research, which may
one day may help find cures and treatments
for neuromuscular conditions. Please do
consider making a gift in your will today.
In Memoriam givingThis can be organised by family or through a
funeral director. Asking family and friends to
donate money they would usually spend on
funeral flowers to the charity is a positive way
of recognising a loss while giving hope to
others with muscle disease.
Personalised webpageThis is really simple and quick to create. It
“Mary hoped that her money would help others in their fight against muscle disease, and possibly even benefit future members of our own family ”
In memory of Mary
Interview
“Mary’s disability didn’t prevent her and Elizabeth from enjoying many holidays together”
Discretionary trusts can ensure lifelong help for othersIf you have a child with muscle disease,
you will of course want to ensure that
they are provided for in your will. But if,
for example, your child inherits a lump
sum of money and/or your home, they
might lose means-tested benefits. To
prevent this you may wish to consider
setting up a discretionary trust for your
child in your will.
How trusts can workA discretionary trust is where you can
leave your child’s inheritance so that they
can benefit from your estate, but since
they would not inherit the funds outright
it means they can continue to receive
means-tested benefits. The money they
may potentially receive from the trust
fund may not be included as “relevant
capital” when being assessed for state
funding – only if the trustees actually pay
your child money will your child be
assessed. If the trustees spend money
from the trust on your child (for example
by paying for clothes, holidays, etc) this
will not be assessed.
First StepsConsult a wills and trusts solicitor who
has expertise in this area and discuss
with them the type of trust you need in
order to protect your child’s financial
future. Think carefully about whom to
appoint as trustees, as they will have a
lot of control. Making a will and setting
up a trust within the will to protect your
child’s inheritance is a good way to
safeguard your family’s future.
“I remember Mary and I watching a group of
children leaving on a trip and saying
goodbye to their parents on the dockside.
They were in a band and played a piece of
music called ‘Goodbye Bergen’, which caught
at my heartstrings. This time, as I left, they
played a version of the song over the
loudspeakers. It tugged at my heartstrings
in just the same way and was a harsh,
unexpected reminder that Mary wasn’t there
with me.”
Elizabeth says that in some ways it feels as if
Mary is still with her, especially when she
comes back from a trip and senses her
presence in the house. She is full of
admiration for her sister’s positivity and can-
do attitude, although that’s probably a family
trait! After working in a pharmacy, Elizabeth
took over her father’s shop and turned it into
thriving mini supermarket. At the age of 74
she still volunteers four times a week to drive
the community transport around her village of
Stilton in Cambridgeshire.
When she died, Mary left £30,000 to the
Muscular Dystrophy Campaign. Elizabeth also
plans to leave money to the charity in her will.
“We always felt that it’s money we’ve earned
and which the Government would only tax or
waste! I want to help research into this disease.
And it’s also my way of remembering Mary.”
Mary (in blue),
Elizabeth
(top) and
friend in 1995
Pho
to:
iSto
ck
For support call 0800 652 6352
Join our club!The Muscular Dystrophy Campaign is inviting supporters to become Company Members, who will have a say in how the charity moves forward. Here we tell you what’s involved and speak to three people who have joined the scheme
Lifestyle
12 TargetMD
L ast year, the Muscular Dystrophy
Campaign wrote to many of our
dedicated supporters to ask them to
become Company Members – in effect, close
friends or shareholders of the charity who would
monitor and support our work, vote for Trustees
and even change the Board of Trustees if they
saw fit. People from all walks of life were asked
to become involved – those living with a
neuromuscular disorder, families, doctors,
scientists and long-term supporters of the
charity, including branch members,
representatives and former trustees. There are
now over 300 Company Members, all of whom
are able to vote on resolutions at the Annual
General Meeting and receive regular updates
about the Muscular Dystrophy Campaign’s
performance and progress. Their
encouragement and enthusiasm means a lot to
us, especially in our 50th anniversary year, as we
“We do what we can for now and being Company Members is a way for us to make a contribution”Catherine King
Lifestyle
www.muscular-dystrophy.org TargetMD 13
The FamilyCatherine King and her husband Rod are the parents of nine-year-old Eden, who has merosin positive congenital muscular dystrophy. They live in Thetford, Norfolk.
When Rod and I became Company
Members we had a lot of questions,” says
Catherine. “Eden was growing, our day-to-day
living was being affected, changes to the house
needed to be made and we wanted to know as
much as we could. At the time, parents of
children with disabilities were means-tested,
which meant that if you worked you might not
have received a grant. But now the law is
changing. The Muscular Dystrophy Campaign
was fighting for this and we received up to date
news through regular updates.
“Being Company Members offers us another
avenue of involvement with the Muscular
Dystrophy Campaign. In the early days after
Eden’s diagnosis we stayed close as a couple but
protected other family members from
information. We didn’t want to know too much
to begin with – the diagnosis hadn’t changed
Eden, so we allowed nature to take its course. As
Eden developed, she gave so much back to us
that it helped us as parents to accept her
condition. Rod was nervous meeting other
children and families at first. He thought we
might see and hear things that would worry us
in the future. Now, we believe talking about
these things really helps. Opening up to other
parents whose children have a disability gives
us support, as they are the only people who can
truly understand.
“A few years ago I took up running, which I
find really helps me. A friend suggested we ran
the London Marathon and of course, I chose to
do it for the Muscular Dystrophy Campaign.
“Over the years I’ve benefitted from the camaraderie that comes with being a supporter of the charity - Being a Company Member means I still have a say in how it moves forward”James Anderson
Eden was in hospital with pneumonia and it
was thoughts of her and how brave she was
that got me through. It was such a positive
experience, giving something back to help all
the tremendous work that professionals do in
the course of their research into muscular
dystrophy. Rod and I would love to do more but
at the moment Eden’s care doesn’t really allow
us much free time. She recently had six-hour
spinal surgery at Great Ormond Street Hospital
and she astonished everybody by recovering
so quickly.
“We do what we can for now, and being
Company Members is a way for us to make a
contribution. Our hopes for the charity in this
special year are that support for fundraising
continues. This is key to giving support to
families and, particularly, to help essential
research to continue.”
The RepresentativeJames Anderson lives in Meols, Wirral, Merseyside and has Facioscapulohumeral muscular dystrophy (FSH). He enjoys the additional contact with the charity that comes with being a Company Member, especially since the Wirral Branch closed earlier this year.
I was Treasurer of the Wirral branch from
1994 to this year, when we closed due to a
lack of activity from all but a few core members.
We hope to reopen the branch in the future if
we gain more support. In the meantime I act as
a representative, putting people in touch with
head office if they contact me for information.
Over the years I’ve benefited from the
Lifestyle
14 TargetMD For support call 0800 652 6352
“As a Company Member and a research scientist, I can help explain and promote the work of the charity”
James Anderson
Dr Mary Reilly
camaraderie that comes with being a supporter
of the Muscular Dystrophy Campaign. When the
branch was still going I felt that I was part of a
team. I would help collect money at fundraising
events while the Branch meetings were held at
my house when my illness progressed and I
found it harder to get about. Being a Company
Member means I still have a say in how the
charity moves forward. We’re marking our 50th
anniversary this year. I hope that there will be an
end in sight to muscle disease well within the
next 50 years. In the meantime, I can do my bit
to help the charity in its work.”
The ScientistDr Mary Reilly is a Consultant Neurologist and a Reader in Clinical Neurology at University College London. She has received two research grants from the Muscular Dystrophy Campaign to fund her investigations into Charcot-Marie-Tooth disease.
We’ve had two grants from the Muscular
Dystrophy Campaign in the past four
years, to help us develop two research projects
into possible treatments for Charcot-Marie-
Tooth disease. This condition affects the nerves
that lead to the muscles, causing weakness and
lack of feeling. I’m particularly interested in
genetic conditions. The first gene for Charcot-
Marie-Tooth disease was discovered in 1991, the
year I first became involved in peripheral nerve
research. We now know about 40 genes that are
linked to the condition. We’re currently finishing
the first international trial of a drug treatment
for Charcot-Marie-Tooth disease, using vitamin
C, and expect the results shortly. We’re also
about to begin a new trial, looking at the
potential role of physiotherapy and exercise in
the treatment of the condition.
“I became a Muscular Dystrophy Campaign
Company Member when I was invited last year.
I’ve been particularly impressed by the way
the charity has highlighted the uneven quality
of services available to people with
neuromuscular conditions. I feel I’ve taken on a
duty to offer my expertise when it’s needed,
especially as my work has received grants from
the Muscular Dystrophy Campaign. As a
Company Member and a research scientist, I can
help explain and promote the work of the
charity. If there are social functions, I can talk to
potential fundraisers about how they might
contribute. I’ve also been involved in the
annual UK joint MRC/Muscular Dystrophy
Campaign Neuromuscular Translational
Research Conference, and I look forward to
voting as a Company Member at the Muscular
Dystrophy Campaign’s Annual General Meeting
in September.
“It’s important that a wide range of voices are
heard that can help to direct and support the
charity’s aims. Company Members can offer
their expertise across the fields of care
support, social services and physiotherapy, as
well as research and medical support. The
scheme also offers the opportunity for people
and families affected by muscle disease to
have their say.
“During the last 50 years, the Muscular
Dystrophy Campaign has aimed to define
neuromuscular diseases, find causes and
develop generic treatments such as ventilation
and physiotherapy. We’re now entering a period
of emerging therapies, which we will trial and
hopefully use to treat neuromuscular
conditions. As a scientist and a Company
Member, I’m proud to be a part of that.”
If you are interested in becoming a Company Member, please don’t hesitate to contact us
Professor Kate Bushby, whose work is funded by the Muscular Dystrophy Campaign, reports on how a collaboration with US scientists is aiding her research into limb-girdle muscular dystrophy type 2B
blood tests showing a very high creatine kinase
level * and the patient having difficulty standing
on tiptoe. The distinction in the way symptoms
first affect different muscle groups also seems to
be less clear than initially thought.
* Creatine kinase is a type of protein found in
muscle. Some forms of muscular dystrophy are
associated with high levels of creatine kinase in a
blood test. This occurs when muscles are damaged
due to disease or injury and the creatine kinase
leaks into the bloodstream.
The role of dysferlinSince the identification of the gene, research
worldwide has focused on trying to understand
what the dysferlin gene and protein do in
“It is important that researchers are able to share results and combine resources”
muscle, with an eye towards future therapy
development. The Newcastle team has been
working on a mouse model, which they showed
several years ago had a mild muscular
dystrophy due to a mutation in the dysferlin
gene. Initially, this model didn’t appear to be
particularly promising. There seemed
insufficient differences in the appearance of the
muscle when compared to healthy mice to be
of any great use as a test of treatments.
On the other hand, it appears that the mice are
not able to respond to muscle damage as well
as healthy mice. Studying this offers a way of
determining whether drugs may be able to
improve symptoms.
Dysferlin is located in the outside layer of the
cell, called the membrane. The membrane
separates the inside of the cell from the outside
environment and controls what goes in and
what comes out. Over the past few years, work
has suggested that dysferlin plays a role in
repairing the cell membrane after injury. This led
the Newcastle team to look at the drug
Poloxamer, which has the potential to repair
damaged membranes and was found to have a
protective effect on heart muscle cells after
acute mechanical damage. However, this drug
did not show promise in the mouse model of
dysferlinopathy, which fits in with an interesting
These two cell studies model one aspect of the dysferlin deficiency process: dysferlin deficient muscles (left) and control (right)
ResearchResearch
TargetMD 17www.muscular-dystrophy.org
“People have observed that patients with dysferlin mutations often seem to have been good at sport”
What is limb-girdle muscular
dystrophy (LGMD)?
LGMD is a group of rare inherited
conditions that affect about 1,400 people
in the UK. They are characterised by
progressive wasting and weakening
generally of the shoulder and pelvic
girdle, like the big muscles around the
top part of the arms and legs (shoulder,
hip and thigh muscles).
What causes LGMD?
To date, approximately 20 different forms
have been found that can have different
symptoms with regard to age of onset,
areas of muscle weakness, heart and
respiratory involvement and rate of
progression. Each form is caused by a
fault in a different gene that contains the
information for a protein with an
essential muscle function. If a person has
a defect in such a LGMD gene then the
muscle cannot properly function and the
weakness occurs.
How is it diagnosed?
A physical examination, including an
assessment of muscle strength, can give
the doctor an initial clue as to which
muscle groups are affected. However, in
order to find the genetic defect and
identify the faulty LGMD gene, a muscle
biopsy or a blood sample for DNA testing
are generally required.
Is there a treatment available?
There is currently no effective treatment
available. For some forms of the condition
potential new treatments are being
tested in clinical trials, but these are not
currently available to patients. However, if
the condition is managed and followed
up properly, and if breathing and heart
problems are identified early, this will
help keep people mobile.
Limb-girdle muscular dystrophy
more with the Jain Foundation in the future.
The Jain Foundation has a registry specifically
for patients with LGMD2B or Miyoshi myopathy,
both of which can be diagnosed through the
National Commissioning Group (NCG) limb-girdle
muscular dystrophy service in Newcastle. The NCG
is commissioned by the NHS and offers a
diagnostic and advisory service to all patients in
the UK with limb-girdle muscular dystrophy. A
precise diagnosis is possible in about 70 percent
of patients.
It is important that patients with an
undiagnosed limb-girdle muscular dystrophy do
seek a precise diagnosis. This is because work
being done in laboratories all over the world is
geared towards trying to develop specific
treatments. Although these kinds of treatments
are still a fair way from arriving in the clinic,
without a diagnosis these potential future
therapies will not be possible.
development in our understanding of these
types of muscular dystrophy.
People have observed that patients with
dysferlin mutations often seem to have been
good at sport before muscle weakness becomes
apparent in early adulthood or even later. This is
seen in about 50 percent of patients with these
conditions. This implies that rather than acute
damage due to membrane breaks, there may be
an accumulation of damage in the muscle with
time, an effect that can be seen in the Newcastle
mouse model. The other interesting finding is
that the mouse model doesn’t seem to be able
to start the cascade of inflammatory cells (white
blood cells), which usually come in to help clear
the damage after injury. This would potentially
be a target for treatment and the next topic for
the team to develop.
Sharing research worldwideMuscular dystrophies due to dysferlin mutations
are rare. There may be only 80 to 100 patients in
the UK with these conditions. Therefore, it is very
important that researchers from different parts
of the world working on this condition are able
to share their results and - in the future -
combine resources in order to run clinical trials.
pRoMising ResuLTs foR LiMb-giRDLe CLiniCaL TRiaLResearchers in the US led by Professor Jerry
Mendell have published the results of a gene
therapy trial for limb-girdle muscular dystrophy
type 2D (LGMD2D). Individuals affected by this
condition have a fault in their ‘alpha-sarcoglycan’
gene, which contains the instructions for a
protein essential for muscle function. In this
clinical trial three teenagers with LGMD2D had a
virus containing a healthy copy of the alpha-
sarcoglycan gene injected into a muscle in their
foot. Not only was the gene therapy deemed
safe, but also there were encouraging signs that
it may prove successful in the future. However,
delivery of the gene therapy to the whole body
(via the bloodstream, for example) is required
for an improvement in symptoms seen in
patients. This will be the next step in the
development of gene therapy for LGMD2D.
aDvanCes MaDe in gene TheRapy foR DuChenne MusCuLaR DysTRophyMuscular Dystrophy Campaign-funded
researchers at Oxford University led by Dr
Matthew Wood have improved exon-skipping
technology for Duchenne muscular dystrophy.
They modified the molecular patches by
chemically joining them to very small protein
molecules known as ‘peptides’. These peptides
help the molecular patches to penetrate cells
more efficiently. The researchers injected the
modified molecular patches into mice which
lack dystrophin and were able to show that
dystrophin production was effectively restored
throughout the body, including the diaphragm
and heart muscles. In the past, exon-skipping
has been largely unsuccessful at restoring
dystrophin production in the heart. Therefore,
this represents a major improvement to the
therapeutic potential of this technique.
However, the safety and efficacy of this
modification will require testing in humans
before its real benefit can be evaluated.
Meanwhile in a US study, information about
the dystrophin protein allowed the design of a
new gene therapy that was more effective than
previous technology in a mouse model of
Duchenne muscular dystrophy. A promising
gene therapy approach for Duchenne and
Becker muscular dystrophy is to introduce a
healthy copy of the dystrophin gene into the
muscles by way of a virus. However, since the
dystrophin gene is too large to fit inside the
virus, scientists have designed so-called ‘mini-
dystrophins’ by removing all nonessential parts
of the gene. This study discovered that a part of
the dystrophin gene, which was previously
thought to be nonessential, does in fact have an
important function. It was found to be
necessary to prevent exercise-induced muscle
fatigue. The researchers therefore developed
‘mini-dystrophin’ genes containing this part of
the gene and tested them in mouse models of
Duchenne muscular dystrophy. The treated
mice had improved blood supply to muscle
during exercise and consequently less muscle
damage and fatigue following exercise.
The development of gene therapy for
Duchenne and Becker muscular dystrophy still
has hurdles to overcome before it is available as
a treatment, but this research will hopefully
enhance the clinical outcome achieved when it
is successful.
poTenTiaL neW DRug foR MyasThenia gRavisMyasthenia gravis is an autoimmune condition
in which the immune system mistakenly attacks
muscle receptors receiving nerve signals that
tell the muscles to contract. Scientists in the US
led by Dr Henry Kaminski studied a protein in
tick saliva called rEV576 that allows ticks to
avoid being attacked by the human immune
response. rEV576 inhibits a specific component
of the immune system called the ‘complement
system’, which is involved in causing the
symptoms of myasthenia gravis. They treated
two different rat models of myasthenia gravis
with rEV576 and saw dramatic improvements in
muscle strength compared to untreated rats.
The treated rats were also generally healthier
and lived longer. This is a new class of drug that
may prove an alternative to those already
available to treat myasthenia gravis but which
often cause serious side effects.
✱ For the latest news and information, visit
www.muscular-dystrophy.org/research
Research update
For support call 0800 652 6352
Research
18 TargetMD
Muscle cells like these form the basis of Dr Zammit’s work
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Surgical intervention can improve the quality of life for many individuals living with muscle disease. Jane Stein talks to three people about their experiences and offers advice for anyone preparing for a procedure
Care Support
20 TargetMD
Life after surgery
For support call 0800 652 6352
Care support
“ I have less movement but the shoulder looks better. I wish I’d had it done sooner”
Scapular fixation surgery is carried out to
stabilise the shoulder joint in people with
facioscapulohumeral muscular dystrophy (FSH),
by fixing the scapula (shoulder blade) to the rib
cage. Whether or not to go ahead with this
surgery is a difficult decision. Some patients
have received improved functional ability, while
others find the more restricted movement
problematic. It is complex surgery that should
be carried out only after a detailed assessment
by a surgeon with expertise in this procedure.
Deciding on surgeryLeanne Shaw, 26, had scapular fixation surgery
to her right shoulder last year and to her left
shoulder earlier this year. She lives with her
boyfriend in Oxfordshire and was diagnosed
with FSH when she was in her early teens. Both
of her shoulders were operated on by Professor
Levy at the Royal Berkshire Hospital in Reading.
Leanne says the decision to go ahead was a
tough one and that the first surgeon she saw
left her feeling despondent, as he was so
negative about the procedure. Mr Levy took a
more positive approach and Leanne decided to
try surgery in the hope of reducing the
discomfort she was feeling. Leanne has been
delighted with her surgery. She says, “I used to
be so tired and achy by Friday night, but now I
Leanne’s story
Scapularfixation
can go out and enjoy myself like others my age.
I have less movement but the shoulder looks
much better. I wish I’d had it done sooner. I feel I
now have a fighting chance to live my life the
way I want to.”
For Leanne the toughest part of the
procedure was coping with the 12-week post-
operative period in a shoulder brace. The brace
keeps your shoulder elevated and cannot be
taken off, even at night or for bathing. Wearing
the brace makes practical tasks
difficult. Dressing becomes a
challenge and it is a good idea
to invest in clothes that are
easy to put on, such as
jogging bottoms and
shirts with poppers on
the sleeves. Leanne
found that by hooking her bra over
the bed posts she was able to put it on herself.
However, getting comfortable in bed was a
nightmare and Leanne had to rely both on
pillows to support the weight of the brace and
on creams to prevent chafing, along with the
occasional sleeping tablet to aid sleep. As
Leanne says, “You always find a way of coping
but I did have some bad days when I would cry
with frustration.” She also needed to borrow a
wheelchair to go out, as the weight of the brace
put pressure on her lower back when walking.
Looking backLeanne wishes she’d had access to an
occupational therapist prior to her surgery, so
she didn’t have to solve so many little practical
difficulties herself. Having both shoulders done
within one year was probably not ideal and
Leanne feels her body was “hit harder the
second time”. She would also advise people to
think about the financial burden of being
unable to work for several months. Finally,
Leanne suggests thinking about how you will
spend your time, as there is only so much
daytime TV you will want to watch!
Common themes run through the three
stories featured here. Chief among
these is the importance of asking
plenty of questions about the surgery, about the
risks associated with the surgery (and the
anaesthetic in particular), and about the
expected outcomes. Preparation helps prevent
difficulties and unnecessary stress. Be aware
that surgical procedures can often be carried
out in different ways and individual discussions
with your own medical consultants will always
be essential.
Leanne Shaw in her shoulder brace
TargetMD 21
Care support
www.muscular-dystrophy.org
Jessica aged one and as she
is today
A gastrostomy is a tube that goes into the
stomach, through the abdominal wall,
enabling a person to be given food and drink
if they have problems taking food orally (or
taking sufficient food orally). The tube needs
either a disc or a water-filled balloon to keep it
in place. There are two main types of tube: a
PEG or a button.
The PEG is a short length of tubing, which
may later be replaced by a button (which is
like a small valve). Some people with
neuromuscular conditions are able to eat only
very slowly, or tire quickly when eating, or may
have difficulty swallowing. A gastrostomy is
considered when lack of weight gain or an
inability to obtain adequate nutrition
becomes a concern. Fitting a gastrostomy
usually involves a short operation under
general anaesthetic.
Jessica Kelly is five and lives with her parents
Stephen and Rachel and little brother Jamie, in
London. Jessica was diagnosed with nemaline
myopathy when she was five months old and
had a gastrostomy fitted when she was one,
because there was concern over how much
nutrition she was able to obtain orally. Having
the gastrostomy has removed this pressure
and greatly relieved the stress on her parents.
The big dayHer father remembers the date of her surgery
clearly – 14 February 2005. He and his wife
celebrated that Valentine ’s Day with a ready
meal in a hospital cubicle. The process for
fitting Jessica’s gastrostomy was
straightforward and there were no problems,
although the couple saw four anaesthetists
and the procedure was cancelled five times, as
there was concern about the anaesthetic risks
and further tests were ordered. Stephen would
advise others to be aware that surgeons and
anaesthetists will have different concerns. He
says, “You want it done so badly but the
smallest hitch can upset plans. There may be a
shortage of nurses or your child may have a
slight infection. Be prepared for plans to be
cancelled.” Eventually the procedure went
ahead and Jessica coped well.
Stephen and Rachel were surprised by how
quickly the procedure took place. They had
just left the hospital and walked across the
road when they received a call to say Jessica
was out of surgery. Jessica still has a
gastrostomy and has all her nutrition this way
because, for her, taking food orally is risky.
Stephen, Rachel and Jessica have found the
PEG works really well and have had no
problems with it. In future Jessica may have a
button fitted – if only because Jamie pulls on
his sister’s PEG!
Jessica’s story
Gastrostomy
“Jessica was diagnosed with nemaline myopathy at five months old and had a gastrostomy fitted when she was one”
Care support
22 TargetMD For support call 0800 652 6352
A tendo-achilles (TA) release is a short
surgical procedure involving a general
anaesthetic, done to release the tight tendo-
achilles (heel cord). There may be different
reasons for needing this surgery and these
reasons may affect post-surgery management.
Matilda Ibini is 17 and lives with her family in
London. She is currently at college studying for
Matilda’s story
Tendo-achillesrelease
A-levels and hoping to go on to university to
study English and Creative Writing. She has
limb-girdle muscular dystrophy and had a TA
release when she was 13 because the tendons
in her ankles were so tight, causing her to walk
on her toes with her heels not touching the
ground. This made her balance precarious and
she was at risk of developing a back problem.
She also struggled to find footwear to
accommodate her unusual foot position.
RecoveryMatilda was in hospital for a week, followed by
another five weeks at home in plaster casts up
to her knees and then three months in ankle
foot orthosis (splints) during the day. She also
needed to wear night splints in bed. She says
the most painful part of the procedure was
trying to walk in the plaster casts and having
the stitches removed. During the postoperative
period, Matilda had to walk little and often,
using a Zimmer frame. She needed assistance
with her personal care and her bedroom had to
be moved downstairs, as climbing the stairs was
impossible wearing such heavy casts. Matilda
pays tribute to her mother, “the best mum in the
world”, who helped her through this difficult
time. Matilda would advise other people going
through this procedure to ask plenty of
questions. Before surgery, she was told what it
“Matilda would advise other people going through this procedure to ask lots of questions”
Anaesthetics: Are you aware of the risks?
Anyone with a neuromuscular condition who
needs a general anaesthetic should ensure
that the surgeon and anaesthetist are aware
of their condition, its implications and of the
need for caution where anaesthetics are
concerned. Wearing a medic alert bracelet/
pendant and carrying an alert card detailing
your medical condition are sensible
precautions, as is talking to your
neuromuscular specialist about what to do
should you need an anaesthetic.
Nearly two years ago Simone Pennant from
London lost her 14-year-old son, Khalif. He
had Becker muscular dystrophy but was a
happy and active young man. One day
Khalif cut the tendons in one of his fingers
and tragically died due to complications
during surgery.
His mum writes, “To this day I couldn’t give
you the full medical breakdown of what
happened to Khalif. I think it’s the brain’s way
of protecting me. Specialist advice was
sought when the surgical team ran into
problems, but had it been sought prior to the
operation, perhaps Khalif would still be here.
“My advice to other parents is know your
stuff and make sure the medical team and
those that deal with your child do, too.
“Don’t be afraid to ask questions, especially
if your gut tells you something’s not right or if
you don’t understand something. I hope a lot
of you reading this are thinking, ‘I already do
that’. I don’t want anyone else to go through
what we’ve been through.
“We owe it to ourselves and our loved ones
to be properly informed about every aspect
of our child’s condition. Get clued up and let’s
ensure every medical practitioner knows
about these risks.”
Don’t be afraid to ask your doctor
questions
17-year-old Matilda Ibini
would involve, but she doesn’t recall being told
what the expected outcome would be. She
mistakenly believed that it would “cure” her
muscular dystrophy and was a little angry and
upset to find it only improved her walking.
Advance planning is important. Matilda
missed many weeks of school, because she was
not advised that she would need home
schooling and was unable to arrange it at short
notice. When Matilda returned to school, she
found her friends very supportive, although
they too were surprised that she wasn’t “cured”.
The biggest benefits for Matilda have been her
improved walking ability, being able to find
shoes that fit and an increase in her self-
confidence. Overall, Matilda is delighted with
the results of her surgery.
More information• For further information on gastrostomy, see
The Muscular Dystrophy Campaign has a range of care services available to anyone affected by muscle disease. Have a look at all the ways in which we can help you
Supporters, branches and companies all over the country have been raising money to help fight muscle disease. Celebrate their success and find out how you can get involved
26 TargetMD For support call 0800 652 6352
Our supporters, branches and
companies make an amazing effort in
raising money to help fight muscle
disease. Last year alone they raised well over
£1 million. To ensure we use these funds to the
best effect, we are introducing a new way of
supporting fundraisers and maximising this
essential source of income.
Building on the recent campaigning success
of local muscle groups, we are changing to
volunteer-led teams to support our fundraising
activities. This means there will be more
volunteers who are fully supported by our new
Volunteer Fundraising Managers to lead on
fundraising events and activities at a local level.
Malvern Walkers Susan Keirnan, Coral Mason, tracy and Michelle Smith, Kim Brady and tracy Davis
Feeling the Spirit of Christmas
Tesco stores, distribution centres and offices
have been getting busy with all manner of
fundraising activities:
• The entire Superstores South division held
Wild West events over the May Bank Holiday
weekend to raise an incredible £120,000.
• Two Merseyside
stores raised over
£1,500 by holding
a charity football
match at Everton’s
Goodison Park.
• 125 Head Office
Can you spare two hours of your time?
Tesco update
Our National Collection Days in September will be held at 800 Tesco stores across the UK. Volunteer Recruitment Manager Laura White explains how you can help raise £200,000
Tesco’s Munro Monkey
team will be attempting
a world first this
September. They’ve
challenged themselves
to climb every mountain in Scotland, in a
single weekend! Starting at 6am on Friday 11
September, 27 teams will aim to reach the
summit of four mountains per day over the
following 72 hours. Each team will follow a
unique route entirely on foot, with some of
the courses covering in excess of 120 miles.
Altogether, the competitors will scale an
astonishing total of 586,000 feet on the 284
Scottish Munros, walking 1,280 miles in the
process. They aim to raise a staggering
£50,000 for the Giving children equipment
to be independent campaign.
Event organiser and head monkey James
Osborn said, “This will test our mountaineers
to the limit. To take our place in the record
books while raising money for the Muscular
Dystrophy Campaign would be an incredible
achievement. I can’t wait to get started!”
The National Collection Days on Friday 25
and Saturday 26 September are crucial to our
Tesco Charity of the Year partnership. I’m sure
you already know how your support can
help make a vital difference to people affected
by muscle disease. I am therefore asking Target
MD readers to help us with our Strength in
Numbers appeal.
We receive so many applications from children
across the UK who urgently need equipment
that will allow them to live more independent
lives. Our National Collection Days are an easy
way to help them. If everyone donated just two
hours of their time, we’d have enough people to
raise a staggering £200,000.
Just two hours is all we ask – on Friday 25 or
Saturday 26 September.
Tesco staff member Gaucho Rasmussen
explains why he will be helping the Muscular
Dystrophy Campaign, “I helped raise money for
last year’s Tesco Charity of the Year by taking
part in Marie Curie Cancer Care’s National
Collections. The Collection Days were hugely
rewarding. It really is an enjoyable and
worthwhile experience.”
✱ Please call us today to help with Tesco’s
National Collection. There’s also a poster
enclosed in this mailing, please display it to help
us make it as successful as possible.
Call us on 020 7803 2856
Monkey mountaineers Pop it in your trolleyFive-year-old artist Bradley Addison, who
has Duchenne muscular dystrophy, has
surely become Tesco’s youngest product
designer. He drew the picture that will
feature in Tesco’s latest gift card range!
For every £10 gift card sold that features
Bradley’s colourful summer playground
design, the Muscular Dystrophy Campaign
will receive a 50p donation. Thanks to
Bradley’s artistic support, we expect to
raise a minimum of £20,000. Bradley’s
mum, Sarah Thompson, said, “Bradley loves
drawing and it’s brilliant that his design will
be used by Tesco!”
Bradley Addison and mum Sarah
petrolheads clocked up donations in an annual
go-karting event to raise £6,000.
• Tesco Havant also raised £1,500 by auctioning
off a flock of model penguins, which had
occupied the frozen food aisle for 11 years.
✱ For the latest fundraising news visit
www.muscular-dystrophy.org/tesco
Head monkey
James Osborn
Head Office go-karters
The Superstores South division
goes West
Fundraising highlights
TargetMD 29www.muscular-dystrophy.org
To help with Tesco’s National Collection Days please call our Volunteer Recruitment Manager
Spirit of Christmas concerts are backThere’s no better way to plan for Christmas than to book up for one
of our wonderful Spirit of Christmas concerts held across Scotland
and England. You’ll enjoy a candlelit evening in atmospheric
surroundings, with special guest performances.
✱ To find out who is performing at your local venue,
turn to our regional fundraising pages or visit
www.muscular-dystrophy.org/spiritofchristmas
Stars at last year’s concert at Southwark Cathedral: (from left to right) Sally Baxter, Philip Jackson, Nerys Hughes, Rita Tushingham, Clive Francis, Geraldine James OBE and Don Warrington
Give your friends a frost-e-greeting this Christmas
Get involved
TargetMD 31www.muscular-dystrophy.org
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Book now for a special seasonal performanceThe acclaimed London Welsh Male Voice Choir will
perform at the grade I listed Town Hall in Birmingham
on Saturday 5 December, with the Muscular Dystrophy
Campaign benefitting from the proceeds. Performing
a varied programme including Christmas favourites,
the Choir will be joined by mezzo-soprano Gaynor
Keeble. With special thanks to Alexander Patrick and
the Patrick Trust for their support.
✱Tickets from £15. For bookings and
further information, contact the Town
Hall Box Office on 0121 780 3333 or visit
www.thsh.co.uk
Get ahead of the Christmas rush by buying
online and support the Muscular Dystrophy
Campaign at the same time. Whether it’s
DVDs, children’s toys, books,
games, or that special outfit,
you can shop online for all
your Christmas gifts and
we will receive a donation
at no extra cost to you. Some online stores
will donate as much as £100 just to secure
your business.
✱ Simply visit www.buy.at/
musculardystrophycampaign
For more ways to support us this Christmas,
visit our website
www.muscular-dystrophy.org/christmas
Get ahead of the Christmas queueAs well as our own website
and Facebook page, we are
now “tweeting” to keep online supporters
up to date on the fight against muscle
disease. You can see our twitter feed at
www.twitter.com/TargetMD
Sing in the season with the London Welsh Male Voice Choir
Skydive for free for the MuscularDystrophy Campaign!Call now for a booking form on 020 7803 4824,email [email protected] or visit www.muscular-dystrophy.org
Leading the fight against muscle diseaseRegistered Charity No. 205395 and Registered Scottish Charity No. SC039445
Parachute_ad_target.indd 1 10/7/09 17:21:55
We’re all of a twitter
Can I get a mobility grant?
Q Is it true I can get a ‘Motability’ grant for a
wheelchair-adapted vehicle?
A The Motability Care Scheme offers disabled
people heavily adapted vehicles in return
for their mobility allowance. Those on Higher Rate
Mobility Allowance, Disability Living Allowance,
War Pensioners’ Mobility Supplement, Specialised
Vehicles Fund or Ex-Invalid Vehicle Service
Holders are applicable. A contract hire option is
available for people who cannot afford an advance
payment for new vehicles.
There is now an additional option to buy or
lease a ‘nearly new’ vehicle (used for under 18
months) at a reduced cost – some even cost less
than your weekly allowance! Vehicles can be
viewed in a car dealership displaying the
‘Motability’ logo, selected according to your
requirements, then ordered through a specialist.
Motability Charitable Grants are available,
subject to applicability criteria, from the
Motability Tenth Anniversary Trust and
fundraising activities. Grants towards advance
payments on standard cars, adaptations such as
hand controls, swivel seats and wheelchair
hoists, or driving lessons, may also be available.
• For more details, contact Motability Customer
Service on 0845 456 4566 or 0845 675 00009
(minicom) (daily 8am-8pm)
www.motability.co.uk
• The War Pensioner’s Mobility Supplement,
0800 169 2277, www.veterans-uk.info
• The Higher Rate Mobility Component of the
Disability Living Allowance – Disability and
Carers Service, 08457 123 456. Disability Living
Allowance, 028 9090 6182
• DVLA Vehicle Excise Duty (VED) exemption,
0870 240 0010, www.dvla.gov.uk or DVA
Northern Ireland, 0845 402 4000
www.dvani.gov.uk
How do I get in touch with other families?
QMy nine-year-old grandson has Duchenne
muscular dystrophy, but also has learning
difficulties. He’s still in nappies and does not talk.
I would love to hear from anyone in a similar
situation. Can you help?
A Firstly, if anyone reading this letter has had
similar experiences and would be happy to
share them, please contact me and I will put you
Emma Mowat, Head of Support Services at the Muscular Dystrophy Campaign, answers your questions
Ask Emma
in touch with one another. To the writer, I suggest
that you contact the Duchenne Family Support
Group, which has a helpline for family members.
If you become a member, you will have access
to a list of local families with Duchenne that you
can contact. Call 0800 121 4518 or visit
www.dfsg.org.uk
Learning difficulties cannot be ‘cured’, but
progress can be made with the right
professional input. We’ve produced a factsheet,
Behavioural Issues in Duchenne Muscular
Dystrophy, which discusses social, psychological,
behavioural and learning issues. It can be
downloaded free from our website at
www.muscular-dystrophy.org/publications
You can also order a free copy of our
professional guidelines, Inclusive Education for
Children with Muscular Dystrophy and Other
Neuromuscular Conditions, which you can pass
on to his education team.
Your grandson’s life may differ from what you
hoped for him, but you need only read feedback
from those who attend our various Conferences
and Information Days to find inspiration.
32 TargetMD For support call 0800 652 6352
1 Get a prescription passport
This will cover all your prescription fees
for a set period and will save you money if you
have to pay for more than one prescription
per month. For example, someone getting
two prescriptions a month over the course of
a year would save £70. A three-month
certificate costs £28.25 and is cheaper than
paying for prescriptions separately if you use
four or more in a month. A 12-month
certificate costs £104 (also available in ten
monthly Direct Debit instalments) and is
cheaper if you use 15 or more prescriptions in
a year. Buy online at www.nhsbsa.nhs.uk or
call 0845 850 0 0300. Forms can also be
collected from some main post offices and
pharmacies. There is a free enquiries service
for those with disabilities.
2 Use free directory enquiries
There’s a special 195 Directory Enquiries
number available for people who find using a
phonebook difficult. Complete the form
available from Blind and Disabled PIN
Registration (0800 587 0195; B&D PIN
Registration, TH59A, Freepost NAT12417,
Sheffield S1 1AY). Ask your GP or any
professional familiar with your disability to
countersign it, and then call 195 for more
details. Text phone users call 0800 838 363.
3 Get help with food costs
Healthy Start is a Government-run
scheme that gives £3 a week in vouchers
(£6 a week for babies under 12 months) to
anyone on Income Support, Income Based
Job Seeker’s Allowance or anyone on Child
Tax Credit who is pregnant or has children
under the age of four. Vouchers can be used
to buy milk, fresh fruit and vegetables or
infant formula milk.
Visit www.healthystart.nhs.uk
These tips are adapted from Martin Lewis’s
Money Saving Expert website. For more ways
to save, visit www.moneysavingexpert.com
Make your money work harderThree ways to make your cash go further
Ask Emma
If you have a question, write to Ask Emma, Muscular Dystrophy Campaign, 61 Southwark Street, London SE1 0HL
Diary datesSeptemberl 5 September Muscular Dystrophy Campaign Annual Conference and AGM Hilton Bradford
Update of our latest research and care with guest speakers and chance to meet with others. Contact Maureen Winslade on 020 7803 4804
l 12 September Muscular Dystrophy Campaign Scottish Conference and AGM Beardmore Hotel, Glasgow
Update of our latest research and care with guest speakers and chance to meet with others. Contact Maureen Winslade on 020 7803 4804
l 14 September Schools Information Day Hampden, Scotland
Aimed at Education staff from schools with pupils who have Duchenne muscular dystrophy and related neuromuscular conditions. Contact Wilma Stewart on 0141 201 0656
l 17 September Scottish muscle network meeting Scotland
For clinicians and research professionals in Scotland. Visit www.smn.scot.nhs.uk
l 23 September Schools Day Sheffield
Full-day programme aimed at staff from any school with a pupil with any type of neuromuscular condition. Contact Julie Cassell on 0115 924 9924 ext 63839
l 26 September Living with MD day London
Self-management and peer-to-peer support day for adults with neuromuscular conditions. Contact Support Services on 020 7803 4800
l 28 September Limb-girdle muscular dystrophy conference Newcastle Centre for Life
Full-day programme for people with a limb-girdle muscular dystrophy, their family, friends and interested professionals. Contact Jane Stein on 01865 234221
Octoberl 9 October Trent MD Professionals Network Physiotherapy Study Day Nottingham
Covering a range of topics, including standardised assessments and foot position management. Contact Julie Cassell on 0115 924 9926 ext 63839
l 14 October Combined Schools/ Duchenne day Exeter
Full-day programme providing a general overview of the condition for any staff working with a pupil with Duchenne muscular dystrophy and/or their families. Parallel sessions specifically for school staff. Contact Tamsin Coade on 01872 254526
l 16-17 October Chartered Society of Physiotherapy Congress London
A multidisciplinary meeting with contributions from physiotherapists, OTs and FCAs. Contact Steve Mann on 020 7306 6688
l 17 October FSH Autumn Get Together Oxford
Programme to include workshops on scapular surgery, benefits and personal issues. Contact Support Services on 020 7803 4800
l 31 October Living with MD day London
Self-management and peer-to-peer support day for adults with neuromuscular conditions. Contact Support Services on 020 7803 4800
Novemberl 28 November Living with MD day London
Self-management and peer-to-peer support day for adults with neuromuscular conditions. Contact Support Services on 020 7803 4800
l for professionals l open to all
Will you be attending?Diary dates
Details of our information days, conferences and family weekends for both professionals and families affected by muscular dystrophy. Plus, other ways to get information
✱ For further details or to book for any of these events, please call us on 020 7803 4800 or email [email protected]
TargetMD 33www.muscular-dystrophy.org
Duchenne muscular dystrophy: the teenage years This booklet aims to answer common questions posed by
teenagers with Duchenne muscular dystrophy. It covers
topics such as personal relationships, finances, education,
respite and getting around independently. Download
from www.muscular-dystrophy.org/publications or call
The Rough Guide to Accessible Britain Produced in association with Motability, this guide is filled
with updated and enhanced ideas for great days out for
the disabled visitor. Chapters are arranged by region and
give practical tips, combined with detailed accounts of
places to visit and things to do. It costs £6.99 from
bookshops and www.roughguides.com
Type 3 SMA and me by Samuel McGinleyReviewed by carers, Occupational Therapists, researchers
and clinicians, this exciting new publication is written for
children aged eight and above who have spinal muscular
atrophy (SMA). It is equally useful for explaining the
condition to younger children, peers and teachers.
Available from the Jennifer Trust for Spinal Muscular Atrophy,
www.jtsma.org.uk Initial funding from Peninsula Medical School Foundation
www.pmsfoundation.org.uk
www.muscular-dystrophy.org
Our own website.
www.brainpop.com
Offers the short film, What is
Duchenne muscular dystrophy?
www.direct.gov.uk
Click on ‘Disabled People’ for
advice on care support, etc.
www.disabilityalliance.org
Publishes the excellent Disability
Rights Handbook and provides
benefit advice on its website.
Call 020 7247 8776
www.radar.org.uk
Publishes annual holiday guides
and sells keys for disabled toilets
(£3.50 per key).
Call 020 7250 3222
www.cafamily.org.uk
Contact A Family offers support to
families with disabled children
and publishes useful booklets.
www.tourismforall.org.uk
Provides information on
accessible holidays.
Call 0845 124 9971
www.familyfund.org.uk
Offers low income families of
disabled children grants towards
things like holidays, days out,
computers, etc.
Call 0845 130 4542
Here to helpNew publications packed with information to help people with neuromuscular conditions
Useful websites
For support call 0800 652 6352 www.muscular-dystrophy.org
A traveller’s tale
their own families. I think my background will
help. I’m from quite a rough area myself and I’m
used to sectarian violence. And being in a
wheelchair, I’m not a physical threat. It’s also
taught me to talk to anyone, from a politician
to someone on the street.”
What have your experiences taught you?
“I’ve learnt that anything is possible but you
have to make it so through hard work. There’s
no point in doing something day in, day out, if
it doesn’t make you happy. Just go for what you
really want. It’s better to try and to fail than to
never attempt it. It’s about bringing the best
out of yourself, whatever your abilities.”
What tempted you to join the Muscular
Dystrophy Campaign’s fundraising Sahara
Trek in 2007?
“I was working as an accounts assistant and
living with my parents at home in Denny,
Scotland. I needed a challenge, and there was
something about putting a man in a
wheelchair in the middle of the Sahara that
appealed to me. I asked my friend Scott Young
(no relation) to come with me, as I knew he
was crazy enough to do it. He did lots of
training, running up and down hills with bricks
in his backpack. I have to admit, I did no
preparation whatsoever!”
What made the trip special?
“Meeting the nomads who walk the desert
was incredible. They had such happiness. We
have nice houses and nice cars, but we’re not
as happy. It made me rethink what I was doing
with my life. I decided not to pursue a career
in accounting. Instead, I decided to pursue
peace and reconciliation work. I don’t see
why we can’t all be at peace, rather than
killing each other.”
What was your next step?
“It’s hard to get a job in the peace and
reconciliation field without either a degree or
experience. I applied to Voluntary Service
Overseas and in September 2008 I started its
Global Exchange programme, working on
community development projects in the UK
and India. There were nine British guys and
nine from India. For the first three months we
worked in a Welsh mining village, which had
become rundown since the closure of the
mines. After that we spent three months in a
rural community in Rajasthan. That project
finished in March this year.”
Did you enjoy your time in India?
“It was a big thing for the people to see a white
man in a wheelchair. At first the kids would
stare and run after me. My work was about
global citizenship and to learn how to integrate
while respecting cultural differences. We
dressed in traditional clothes. There was no
smoking or drinking alcohol, and there was the
language barrier. But by the end of my time
there I’d built relationships. I could laugh with
people, and I could move down the street like a
villager. That meant a lot to me.”
What’s your next challenge?
“I’ve just been accepted for an internationally
advertised, long-term volunteer post at a peace
and reconciliation centre in Corrymeela,
Northern Ireland. I’ll be working with guys
coming out of prison after being involved in
the IRA or UVF, and helping them build bridges
between them and the community, and even
A fundraising trek across the Sahara was just the start of a surprising new direction in life for 26-year-old Ethan Young, who has Facioscapulohumeral muscular dystrophy (FSH)
Inspiration
34 TargetMD
Ethan Young made some inspirational new friends
during his trip to the Indian state of Rajasthan
Do you know someone whose story has influenced or motivated you? If so please get in touch
