Campaign Spring 2011

Campaign

www.muscular-dystrophy.org 08006526352

Thenewsletterforoursupporters Spring2011

Thank you to our family of supporters

2Tosupportuscall02078034837

Welcome to the first Campaign of 2011. There is lots of exciting news in this issue, including how research we fund is discovering new genes and treatments for muscle wasting disease. You can read about this research, carried out at the University of oxford, into the causes of congenital myasthenic syndrome on page four.

Also in this issue, there are some fantastic stories from people who live with muscle disease, so be sure to take a look at page nine where you can hear from Shona Davison, who has mytonic dystrophy. Shona shares her experience of what she calls her “quest for a baby”.

By now I’m sure you will have heard from the charity’s chief executive, Robert meadowcroft. Robert took the helm from Phil Butcher last year, after four years as our charity’s Director of Policy and campaigns. I know from meeting Robert at events that his passion and commitment for supporting people with muscle disease is second to none. I am also pleased to welcome our new chairman, Bill Ronald, who took over from Professor martin Bobrow. I know that Bill is looking forward to working with everyone involved with the muscular Dystrophy campaign to ensure we continue to make a real difference.

Finally, I would like to take this opportunity to recognise the commitment of all our supporters and thank you for all the volunteering work you do for, and the donations that you give to, the muscular Dystrophy campaign. This support is absolutely vital to our charity; it is what makes all our work supporting families living with muscle disease possible.

Thank you,

Sue Barker mBePresident, muscular Dystrophy campaign

Emmerdale star catherine Tyldesley proved she’s a Yorkshire beauty by posing with the region’s favourite food in a tongue-in-cheek awareness campaign for our food-based fundraiser, come Dine With Us (see page 10).

The actress, who plays prison guard Abi Peterson in the TV soap, was inspired to create this Yorkshire version of the famous image from the film American Beauty to raise awareness for the charity by her friend’s son, who is affected by a muscle-wasting condition. catherine said, “I had a great time posing with my favourite food and want everyone to do some food fundraising for the muscular Dystrophy campaign – a charity close to my heart!”

Emmerdalestarbacksfoodfundraiser

www.muscular-dystrophy.org3

News

TalkmD is the new forum on our website for people with muscle disease. We’ve recruited a marvellous team of volunteer moderators who are helping out with the day to day running of the forum. All three of our moderators live with muscle disease and are happy to share their experiences and help people out by answering questions.

Thank you again to everyone who gave to our christmas appeal last year that raised a fantastic £28,000. ellis and Karen Barratt shared their experiences of life with Duchenne muscular dystrophy, including why ellis took part in the ground-breaking exon skipping clinical trial. Karen said, “We are so pleased that so many people read ellis’s story and decided to donate. Supporting the muscular Dystrophy campaign’s research is so important to our family, as it gives us hope for the future – hope that a treatment or cure for Duchenne muscular dystrophy can be found.”

TrailblazerstakeeasyJettotask

Christmasappealupdate

TalkmD already has over 700 members, so why not log in to say ‘hello’ and share your experiences. Visit TalkmD at,

www.muscular-dystrophy.org/talkmd

last year our Trailblazers’ report on disabled access to tourism (page 11) revealed that leading budget airline easyJet was refusing to allow powered wheelchair users onto flights, citing health and safety reasons.

The airline was refusing to let wheelchairs over 60kg (with batteries removed) on to its planes. This prevented most powered wheelchair users from flying, as the average chair weighs 122kg, despite other airlines using the same planes allowing them to fly.

The Trailblazers’ report forced easyJet to change its rules and they now allow disabled wheelchair users to travel provided they can collapse their chair into separate parts weighing less than 60kg each.

Trailblazers Project manager, Bobby Ancil, was pleased that easyJet recognised the issue but does not think they went far enough to accommodate all disabled passengers. He said, “This is a small victory for powered wheelchair users but we would like to see all airlines take this further and allow all wheelchairs onto the hold in one piece. Powered wheelchairs are essential for many disabled people and it is unacceptable to expect them to allow their costly equipment to be tampered with in this way.”

The Trailblazers continue to fight for the rights of disabled people, find

out more at www.muscular-dystrophy.org/trailblazers

WelcometoTalkMD!

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ForummoderatorVictoriaPeggs.

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Campaigning

Thepatient’svoiceIn THe lIgHT of many proposed changes to the way health and social care is provided by the coalition government, we have been working even harder than normal to ensure the voices of people with muscle disease are heard by those taking decisions that affect their everyday lives.

In August last year we launched the results of our patient survey. The survey, that brought together the views of more than 600 people with muscle disease, helped us focus our campaigns on the issues that people living with muscle-wasting conditions are most concerned about.

Betterspecialistcareneededone of the most shocking findings from our survey was the lack of specialist multi-disciplinary care for people living with muscle disease. over half of survey respondents told us they felt their gP had a poor understanding of their condition; half also had no access to a specialist muscle disease care Advisor.

These issues were put under

the spotlight by BBC Newsnight during their coverage of the government’s proposed move to gP commissioning in the nHS. This would make gPs the primary budget holders for healthcare and give them far greater control over nHS services. This is an area of concern for the muscular Dystrophy campaign and our supporters, like Jane Field

whose son murray has Duchenne muscular dystrophy. Jane spoke on the BBc programme to share her experiences of how the nHS deals with muscle disease. She said, “murray was misdiagnosed by two separate paediatricians, who delayed all aspects of his treatment. We didn’t find out he had Duchenne until he was seven

Jane,MarkandMurrayFieldoutsideparliament.


Campaigning

and a half, after much pushing from us as parents.

“He lost out on almost four years that he could have been taking steroids to slow down his muscle deterioration. This meant he ended up in a wheelchair sooner, and we know that the sooner a boy with Duchenne ends up in a wheelchair, the shorter his life expectancy is.”

”I never go to see our gP – why would I? I know far more about the condition than they do. gP commissioning would be catastrophic.”

Several months after the Newsnight coverage opposition mPs, Kerry mccarthy and graham evans, pressed the issue with the Parliamentary Under-Secretary of State for Health, Anne milton mP. They asked her some challenging questions on the provision of specialist neuromuscular care, including concerns about gP commissioning and unplanned emergency admissions to hospital for neuromuscular conditions. Anne milton, responding to the questions, praised the role of the muscular Dystrophy campaign in raising these issues.

“I pay tribute to the muscular

We are always fighting to get the voices of people with muscle disease heard, for the latest news on our campaigning work or to get involved, visit www.muscular-dystrophy.org/campaigns

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Dystrophy campaign and a number of other organisations that have been so successful in raising these issues. A review of specialist neuromuscular services in the north West was completed in September 2010.

When the government announced that it plans to cut the Disability living Allowance (DlA) mobility component for people living in residential care, including children attending residential schools, our supporters contacted us with their concerns. Phillippa Farrant, whose eighteen-year-old son Daniel attends a residential school and has Duchenne muscular dystrophy, said: “This proposal will mean that we lose our adapted van. Without it my son Dan would be stranded at home or school, isolated from all his friends or family. And what happens for all his hospital appointments – and in an emergency. I can’t believe they are going to do this to us.”

The muscular Dystrophy campaign responded by launching a petition to call on the government to drop the proposals. Without DlA mobility component thousands of adults of all ages with severe disabilities who are supported by the state to live in residential care will be unable to retain voluntary employment or simply to visit family and friends. many families with children attending residential schools will not be able to fund their own adapted vehicle, and as residential schools only provide transport for the start and end of term, with no extra provision for weekends or holidays, disabled children may end up stuck as a prisoners in their own home during school holidays, unable to take part in leisure activities, or even attend essential hospital appointments.

Newpetitionlaunched:SaveDLAMobilityComponent

I understand that the focus of the review was the particular pressure areas of service provision highlighted by muscular Dystrophy campaign reports and corroborated locally by key stakeholders.”


Researchupdate

OurresearchdiscoversanewgeneandaneffectivetreatmentA THRee-YeAR research project we funded at the University of oxford has identified a genetic fault that causes congenital myasthenic syndrome (cmS) and discovered an effective treatment for the condition. By treating people with cmS with the drug ephedrine, the team at oxford were able to relieve many of the symptoms of the condition. The treatment can have a major positive impact on the lives of people with cmS.

TheconditioncmS is caused by the nerves being unable to pass the signal to the muscle that tells it to contract. This process involves an electrical signal that travels down the nerve to the place where the nerve meets the muscle – known as the neuromuscular junction. This triggers the release of a chemical signal which travels across the gap between the nerve and the muscle. The chemical signal then binds to proteins on the surface of the muscle called receptors. All of this sets in motion the chain of events that allows the muscle to contract.

In order for this process to function properly, many different proteins play a role in

making sure that the receptors are correctly positioned at the neuromuscular junction. mutations in the genes that carry the instructions for any of these proteins can cause one of the congenital myasthenic syndromes.

TheresearchwefundedThe team at the University of oxford, led by Professor David Beeson, studied samples of DnA from many families who had a specific form of cmS but for whom the exact genetic diagnosis could not be given. These patients often did not respond to treatments used for other types of cmS and clinicians could not give these families accurate information

on how the condition might progress or advice on future family planning.

Whatdidtheresearchshow?Professor Beeson and his colleagues found that faults in a gene called DoK7 were the cause of cmS in many of the families. In fact, DoK7 mutations are now known to be the second most common cause of cmS.

There had been anecdotes of some patients with cmS responding to a drug called ephedrine but the response wasn’t consistent and had not been studied in detail. ephedrine is a drug already available in the clinic, as it has been used in the past to treat

Diagramshowinghowthenervesignalsthemuscletocontractattheneuromuscularjunction.


NewfindingsinDuchenneresearch

Researchupdate

OurcurrentcommitmenttoresearchLastyearweinvestedalmost£1milliontofund22researchprojectscovering

15differentformsofmuscledisease.Tofindoutmoreaboutourresearch,visitwww.muscular-dystrophy.org/research

conditions such as asthma and bronchitis. So, due to the lack of other treatment options for patients with mutations in the DoK7 gene, the researchers in oxford decided to do a small study testing ephedrine as a treatment. They found that it had a profoundly positive impact on the symptoms of this group of patients. For example, a 19-year-old man who was walking with crutches was able to manage short jogs after 6 months of treatment. As a result of this study, clinicians now recommend ephedrine treatment for patients with DoK7 mutations.

Although it is now known that faults in the DoK7 gene can cause cmS, precisely how they cause the condition is still not fully understood. Professor Beeson has recently been awarded a new grant by the muscular Dystrophy campaign to continue to investigate this and look into exactly why ephedrine is of benefit to this group of people and what the long term effects are. Understanding this should improve the ability of clinicians to effectively treat many more people.

Research part-funded by the muscular Dystrophy campaign by Professor george Dickson at Royal Holloway University of london has shown that long term administration of the exon skipping drug – or ‘molecular patches’ – can help to prevent muscle damage and maintain muscle strength. The researchers gave mice repeated injections of the drug at either a low or a high dose and found that even the low dose was beneficial when given over a long period of time.

Whatdoesthismeanforpatients?This study tested the long term effects of exon skipping for the first time and provides further evidence of the potential of this technique for treating Duchenne muscular dystrophy.

The pharmaceutical companies are currently conducting clinical trials testing slightly different forms of the molecular patches which are producing promising initial results. However, researchers don’t know yet how much dystrophin protein is required in muscle cells to halt or slow the progression of symptoms for boys with Duchenne muscular dystrophy. Professor Dickson’s research will be important for informing future clinical trials in terms of which doses and dosing regimes to test.

Dr marita Pohlschmidt, Director of Research at the muscular Dystrophy campaign, said: “Finding the right dose of this potential new drug is key to its success and we are proud that the research we fund continues to shed light on this. Professor Dickson’s work has provided us with a good indication of what dose might be effective to improve muscle function in boys with Duchenne muscular dystrophy and we hope that these results are confirmed in clinical trials.”


Realstory

MeetourFamilyoftheYear

BaronessThomaswiththeAtkinsonfamilyandSarahKellyatourNationalConference.

THe ATKInSon FAmIlY were worthy winners of our Family of the Year award, which was presented to them at our national conference last September. The whole family has given an extraordinary amount of time to the muscular Dystrophy campaign’s fundraising efforts, throwing themselves wholeheartedly into running the charity’s That Glorious Noise classical concert series.

Richard and gillian were heavily involved in the planning and organising of the four concerts featuring Russell

Watson as well as playing a starring role on the day, with gill’s choir, The Rodillian Singers, taking part in each concert while Richard acted as compere for the events. even Austin, who has congenital muscular dystrophy, took to the stage at meridian Park as Russell Watson led the 1,500-strong crowd in singing Happy Birthday to celebrate his fifth birthday!

To read more stories written by and about people with muscle disease, visit www.muscular-dystrophy.org/yourstories

The Atkinsons also used their contacts to find sponsorship and advertising for the events as well as giving media interviews and providing box office support for the concerts. Richard, gillian, Austin and esther Atkinson have given up huge amounts of time to organise a fantastic series of events, we could not have done it without them.

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www.muscular-dystrophy.org�

Shona Davison was diagnosed with myotonic dystrophy at the age of 28. Here she tells the story of her quest for a baby using a technique called Pre-implantation genetic Diagnosis (PgD).

“At the age of 28 I was

diagnosed with myotonic

dystrophy, a condition that is

characterised by muscle

stiffness and progressive

weakness. I had noticed

some symptoms such as

slurring my words, a weak

neck and a jaw that

sometimes was difficult to

open, however I was only

diagnosed because my father

got diagnosed before me.

The diagnosis happened at

a time when I was engaged

to be married to Steve. Steve

and I were hoping to start a

family soon after the

wedding but suddenly we

realised that our dream of a

happy family life may not be

easy to achieve. Any children

we had would have a 50

percent chance of inheriting

myotonic dystrophy and

because of a phenomenon

called ‘anticipation’ an

affected child would be likely

Mystory

Ourquestforababy

ShonawithhersonDexter.

to be more severely affected

than me.

Thankfully, I heard about

PgD. It involves using in vitro

fertilisation and then

removing a cell or two from

the embryos when they are

only six to eight cells big.

These cells can then be

tested for myotonic

dystrophy. The results can

then be used to determine

You can find out about Shona’s progress on her blog, www.myotonicdystrophyblog.blogspot.com✱

which embryos to put back

into the uterus in

the hope of achieving a

viable pregnancy.

After considering

alternatives such as adoption

or using an egg donor, we

decided to start on the

emotional rollercoaster that

is PgD. Three IVF cycles and

three years later our beautiful

son Dexter was born. We are

now back trying to get him a

brother or sister.

We are up to cycle six,

which will be our last

attempt whatever the

outcome. If you wish to

join us on the journey

and learn a little more

about what exactly PgD

involves, become a follower

of my blog. I’ll be posting

about every appointment

as soon as it happens in the

hope of raising awareness

of both PgD and

myotonic dystrophy. ”


Events

If you would like to come Dine With Us, you can request a fundraising pack by calling0845872�058or visiting www.muscular-dystrophy.org/dine✱

come Dine With Us, our new fundraising initiative, launched in style last year. We stopped members of the public in their tracks in glasgow, manchester, Weston Super mare and Southampton by holding dinner parties in a shopping centre, legoland and even on a big wheel!

The new fundraising concept, that was fronted by celebrity chef Simon Rimmer, calls on people to get together with friends and family to host their own food-themed fundraising event.

ComeDineWithUslaunchesinstyle

Voted as one of the best road races in the UK our oxford Town and gown 10K is a fast and unique course, that allows runners to pace the closed streets of oxford city centre.

4,000 runners will enter into the carnival atmosphere this may, with teams in wacky fancy dress passing the city’s historic buildings and ending in the beautiful university parks.

To join the race call our events team on 02078034820, email

[email protected] visit www.muscular-dystrophy.org/oxford

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The 2011 Four course classic is going to be the best yet, and this year even more people can take part. Based on feedback from our supporters, we’re offering golfers the chance to play half marathons as part of the challenge. This means you still get the satisfaction of playing four new courses in one day, with half the physical strain and without the 4am start!

After two fantastic years the Four course classic has gone from strength to strength, and in 2011 it’s going to be even bigger. We have 400 fantastic courses to choose from, including some of the best in the country, and this year we’re aiming to raise £100,000 to help our fight against muscle disease.

our thanks to golfbreaks.com for donating a top prize of a three night stay at one of Spain’s most luxurious five star hotels.

The Four course classic will take place on Friday 24 June across the UK. For further information please visit www.fourcourseclassic.co.uk, call the events team on 02078034830 or email [email protected]

Swingintoaction–halfthedistance,allthefun

OxfordTown&Gown


If you would like to find out more about how to

leave a gift in your Will or if you would like any more information please contact Sarah West on 02078034834, or visit www.muscular-dystrophy.org/giftinyourwill

This year our national conference takes place at the east midlands conference centre in nottingham on Saturday 15 october. The day will feature a packed programme and exciting mix of events that will offer delegates the opportunity to:l learn of the latest research developmentsl meet care advisors and gain the latest

information on specialist services availablel meet other families living with muscle disease in a relaxed and friendly environmentl share your views on the charity’s work and priorities.

our thanks to Sirus Automotive, a vehicle conversion and adaptations company based in the West midlands, for sponsoring the conference this year. more information about booking and the full programme will available in may. To find out more visit www.muscular-dystrophy.org/nationalconference2011 or contact maureen Winslade on 02078034804or email [email protected].

last year muscular Dystrophy campaign’s Trailblazers launched an investigation into the accessibility of hotels and attractions in the UK and overseas. They published their findings in a report titled All Inclusive?

over 200 Trailblazers from across the UK were surveyed, spending their summer investigating and collating evidence in an attempt to tackle the challenges of enjoying an accessible holiday. The findings showed,l almost 80 percent of young disabled people feel the

standard of disability awareness among hotel staff members is poor or variable

l nine out of ten young disabled people feel that most high street and mainstream travel agents have poor disability awareness and knowledge of issues affecting disabled tourists.

Trailblazers used their findings to compile best practise and come up with solutions to share with the leisure industry.

News

Areholidays‘AllInclusive?’

To find out more about the young campaigners, visit www.muscular-dystrophy.org/trailblazers

AgiftinyourWill Including a gift in your Will is more than a donation. It sends out a strong and personal message of hope for the future. one in four of the research projects and services we provide are only possible through gifts left by supporters in their Will.

These gifts allow us to plan long into the future, giving more hope to the 70,000 people living with muscle disease in the UK.

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Comeandseeus–2011NationalConference

FindusonFacebookSupport for our Facebook page has doubled over the past year, with more than 6,000 fans getting daily news and updates from the muscular Dystrophy campaign. our fans can also comment on our news stories and interact with each other to discuss their thoughts on the events of the day.

To check out our Facebook page, visit www.facebook.com/musculardystrophycampaign

Contactusat: 61SouthwarkStreet,LondonSE10HL 02078034837 [email protected]

Registered charity no: 205395 Registered Scottish charity no: Sc039445

RupertBearraises£5,500The charity’s favourite bear Rupert turned 90 last year and to celebrate, a one of a kind handmade Steiff collectable Rupert Bear went up for auction on eBay with the proceeds donated to the muscular Dystrophy campaign.

But it’s not just bears! You can sell anything on eBay and donate a percentage of your profits to the muscular Dystrophy campaign, for more details visit www.muscular-dystrophy.org/shop

Donateoldphones,gadgetsandgamesDo you have old mobile phones, DVDs, digital electronics, games or computers? Donate by selling to ceX, the technology and entertainment exchange specialists who Which? say “consistently offered us the best prices.” ceX pass on all donations in full, visit them at webuy.com and in stores nationwide.

SendaneCardThank you to everyone who supported us by sending christmas ecards last year. But it’s not just for christmas, you can create and send personalised animated cards to family and friends all year round.

To send an ecard, visit www.muscular-dystrophy.org/ecards

Documents

Campaign Spring 2011