Campaign Spring 2011

Campaign The newsletter for our supporters

Spring 2011

Thank you to our family of supporters www.muscular-dystrophy.org

0800 652 6352

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 MBE President, Muscular Dystrophy Campaign

Emmerdale star backs food fundraiser 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!”

To support us call 020 7803 4837

News

Trailblazers take easyJet to task 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

Christmas appeal update 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.”

Welcome to TalkMD !

Forum moderator Victoria Peggs.

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.

✱

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

www.muscular-dystrophy.org

Campaigning

The patient’s voice In 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 musclewasting conditions are most concerned about.

Jane, Mark and Murray Field outside parliament.

Better specialist care needed One of the most shocking findings from our survey was the lack of specialist multidisciplinary 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

To support us call 020 7803 4837

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

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

✱

New petition launched: Save DLA Mobility Component 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-yearold 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.

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.

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.”

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

www.muscular-dystrophy.org

Research update

Our research discovers a new gene and an effective treatment A 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 Diagram showing how the nerve signals the muscle to contract at the lives of people with CMS. the neuromuscular junction.

The condition CMS 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.

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

What did the research show?

Professor Beeson and his colleagues found that faults in a gene called DOK7 were the The research cause of CMS in many of the families. In fact, DOK7 we funded The team at the University of mutations are now known to Oxford, led by Professor David be the second most common cause of CMS. Beeson, studied samples of DNA from many families who There had been anecdotes had a specific form of CMS but of some patients with CMS for whom the exact genetic responding to a drug called diagnosis could not be given. ephedrine but the response These patients often did not wasn’t consistent and had not respond to treatments used been studied in detail. for other types of CMS and Ephedrine is a drug already clinicians could not give these available in the clinic, as it has families accurate information been used in the past to treat

To support us call 020 7803 4837

Research update 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.

New findings in Duchenne research 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.

What does this mean for patients?

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.”

Our current commitment to research Last year we invested almost £1 million to fund 22 research projects covering 15 different forms of muscle disease. To find out more about our research, visit www.muscular-dystrophy.org/research

www.muscular-dystrophy.org

Real story

Meet our Family of the Year

Baroness Thomas with the Atkinson family and Sarah Kelly at our National Conference.

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 support us call 020 7803 4837

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.

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

My story

Our quest for a baby 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

✱

Shona with her son Dexter.

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

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.

”

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

www.muscular-dystrophy.org

Events

Come Dine With Us launches in style 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.

If you would like to Come Dine With Us, you can request a fundraising pack by calling 0845 872 9058 or visiting www.muscular-dystrophy.org/dine

✱

Oxford Town & Gown

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. race call our events team on ✱ To020join7803the4820, email oxford@muscular-dystrophy.org or visit www.muscular-dystrophy.org/oxford 10 To support us call 020 7803 4837

Swing into action – half the distance, all the fun 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 020 7803 4830 or email golf@muscular-dystrophy.org

News

Come and see us – 2011 National Conference 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 developments l meet care advisors and gain the latest information on specialist services available l meet other families living with muscle disease in a relaxed and friendly environment l 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 020 7803 4804 or email maureenw@muscular-dystrophy.org.

Are holidays ‘All Inclusive?’

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

A gift in your Will 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. would like to find ✱ Ifoutyoumore about how to leave a gift in your Will or if you would like any more information please contact Sarah West on 020 7803 4834, or visit www.musculardystrophy.org/giftinyourwill www.muscular-dystrophy.org 11

Rupert Bear raises £5,500 The 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

Send an eCard Thank 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

Contact us at:

Find us on Facebook Support 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

Donate old phones, gadgets and games Do 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.

61 Southwark Street, London SE1 0HL 020 7803 4837 donations@muscular-dystrophy.org

Registered Charity No: 205395 Registered Scottish Charity No: SC039445