Target MD 2014 (3 of 4)

magazine

Target MD Issue 3 of 4 2014

Meet our dedicated supporters

Campaigning for improved services

Special feature

Our work in Northern Ireland Campaigning news

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Research updates

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Fundraising events

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Best of the web

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Trailblazers

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Welcome A very warm welcome to our new Target MD with its focus on developments in Northern Ireland, together with news from around the UK. I have no doubt the most encouraging news for many readers will be the recommendation of the European Medicines Agency that Translarna (formerly ataluren) should be granted a conditional licence.

If this is accepted, Translarna will be the first drug to be licensed that treats the underlying genetic cause of Duchenne muscular dystrophy. The drug has been designed to treat what are known as ‘nonsense mutations’, which affect some 10 to 15 percent of those with Duchenne muscular dystrophy (around 200 boys and young men in the UK). However, it is important to note the conditional licence would only permit its use at this stage with boys aged five and above and who can still walk, as this is the group the drug has been tested in and where it showed some benefit. This is not to say in the future it will not be used with boys outside this age group and those who can still walk.

Since the licence recommendation was announced, we have met with PTC Therapeutics, NHS England (who will pay for the drug), commissioners and consultants to ensure fast access to the treatment; we know every day counts.

For those with Duchenne muscular dystrophy caused by a deletion or a duplication, unfortunately Translarna will not help. However, other potential approaches are currently in trials, such as exon skipping and increasing the levels of utrophin. Again, we are keen to see progress made as quickly as possible.

In addition to providing vital research funds, we are engaging with NHS officials across the country to develop the leading muscle clinics both to improve care and support but also to ensure the centres have the staff needed to deliver and monitor new treatments effectively after they have been approved. We are determined to see fast access to emerging treatments with specialist care also available.

You will also read about the huge impact our advocacy service makes in enabling people to live independently with the support to which they’re fully entitled. When we think about independent living and removing barriers, we know the Trailblazers do amazing work, so it’s also great to read in this issue about Michaela, the pioneer of what is rapidly developing into the Trailblazers movement, and how she is thinking about her future.

Finally, many thanks as ever to all our amazing supporters across the country. We value enormously all you are doing to raise funds, back our work and help us win the fight together to beat muscle-wasting conditions.

Robert Meadowcroft Chief Executive

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Contents Features

News

Regular

08 For Christopher

24 EMA: conditional approval of ataluren

06 Letters

11 Running in the family

24 Prosensa’s plans for drisapersen

26 Update on advocacy

12 A powerful voice

24 APG in Stormont

15 My life in pictures

29 How powerchair football changed

my life

16 Community-minded Karen

24 More care advisor support in the

north of Scotland

32 Get involved

19 Myotonic dystrophy support in NI

25 Progress in East Midlands

20 Meet the Bailie family

26 Audit of muscle service at Newcastle

22 Yoga in Lurgan

26 Newborn screening report launched

30 Fundraising families

26 Updates from the Trailblazers

34 Best of the web

On the cover Dr AJ McKnight and her mum, Cindy

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About us The Muscular Dystrophy Campaign is the leading UK charity focusing on muscular dystrophy and related neuromuscular conditions.

We are dedicated to finding treatments and cures and improving the lives of the 70,000 adults and children affected by the conditions.

We focus on funding world-class research, providing practical information, advice and support, campaigning to bring about change and raise awareness, awarding grants towards the cost of specialist equipment and providing specialist education and development for health professionals.

Interact with us and around 13,000 fans on our Facebook page at: www.facebook.com/ musculardystrophycampaign

Join 7,500 others and follow us for regular updates on all areas of our work @TargetMD

The magazine for supporters of the Muscular Dystrophy Campaign, written and produced entirely in-house.

Advertising enquiries: Richard Walters e: Richard.walters@cpl.co.uk t: 01223 477 428

Editor Ruth Martin Art director Amanda Nee targetmd@muscular-dystrophy.org

Disclaimer

Muscular Dystrophy Campaign 61A Great Suffolk Street London SE1 0BU t: 020 7803 4800 e: info@muscular-dystrophy.org w: www.muscular-dystrophy.org

While every effort has been made to ensure the information contained within TargetMD is accurate, 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

Registered Charity No. 205395 and Registered Scottish Charity No. SC039445 Target MD is printed by Pureprint Group using their pureprint environmental print technology, a guaranteed, low carbon, low waste, independently audited process that reduces the environmental impact of the printing process. Pureprint Group is certificated to Environmental Management System, ISO 14001 and registered to EMAS, the Eco Management and Audit Scheme.

Enclosed into a bio-degradeable polybag

Hello Welcome to our Northern Ireland-focused edition of Target MD. When I travelled to meet some of our supporters in Belfast and surrounds, the strong sense of community was so present among the families affected by musclewasting conditions. The NI network was started by a family who knew the importance of peer support and shared experience; there are about 2,000 people in NI affected by muscle-wasting conditions.

Stories of young and older stalwart supporters of the charity fill the following pages; you’ll meet the Chair of the All Party Group on Muscular Dystrophy, as well as the Chair and Secretary of the Northern Ireland Council. Gerry and Geraldine McCollum talk of their continued campaigning and fundraising for the charity, in honour and in memory of their son, Christopher.

As always, there is our regular news round-up with more evidence of our campaigning, advocacy and fundraising successes across the UK. The Wheelchair Football Association update this time comes from recent powerchair football convert, Niamh O’Reilly.

Please have a look at our #TeamOrange calendar, offering you a huge range of fun activities to get involved in. And please do join us at either our National or Scottish Conference in October.

Thank you for completing our reader survey; your thoughts and feedback will help us bring you the news and stories you want to read. We’ll keep you posted on next steps.

The next edition of the magazine will focus on our work in various areas across England – particularly where there are gaps in service. If you have any story ideas, please do send them in – I’d love to hear from you.

Ruth Martin Editor t: 020 7803 4836 e: r.martin@muscular-dystrophy.org tw: @RuthWriter

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Letters What do you think?

We’d love to hear from you and to fill this page with your letters. Send us your good news, your frustrations, your story ideas, as well as any news you’d like to share with our readers.

Dear Target MD I’d like to thank the advocacy team for helping me with a difficult case that I could not have won without your support. I have been medically retired for many years, but recently when I applied for Employment and Support Allowance (ESA), I was placed in the ‘work-related activities’ group. This meant that not only would I be penalised if I were not seen to be seeking work, but I would also not be receiving the entire amount I am entitled to. I was also told my ESA payments would end after 12 months. After approaching the Muscular Dystrophy Campaign’s advocacy service, they advised my family and spoke to the DWP on my behalf. I was relieved then not only to be placed in the right group (Support Group), but also to be paid back the shortfall and have my ESA payments extended. This means I will now get an annual total of just over £5,000, which is as it should be.

Maureen Dear Editor I was delighted to read in the Daily Telegraph last week that ataluren has now been granted a conditional license for use with certain boys with Duchenne muscular dystrophy. The article in the recent edition of Target Research (Issue 2 of 4 2014, p9) expressed such disappointment that the European Medicines Agency had not granted conditional approval for its use, so this reconsideration is all the more welcome. We now hope it may be available on the NHS as soon as possible. My dear son, Stephen, would have been so interested and pleased at the news.

Margaret Gazzard

Join us at our conferences in October Do come and join us at our 2014 conferences, where you’ll get to meet other families affected by muscle-wasting conditions and hear news and updates on the charity’s research and campaigning work.

We’d love to see you there.

Tickets are now available to buy online at www.muscular-dystrophy.org/ conference2014

Scottish Conference

Reader survey Thank you to everyone who completed the Target magazine reader survey we sent out with the last edition of the magazine package. We have a clearer idea of what our readers like and don’t like, and the kinds of features and articles you’d like to see us include in the magazines.

There will be some changes as a result, so please watch this space for our next steps – we hope you’ll like what we do.

Ruth and Neil

Looking ahead The next edition of Target MD, due out at the end of October 2014, will focus on the charity’s work in various areas across England.

We will look at the charity’s services and activities, as well as gaps in care, and we’ll introduce you to some of the outstanding families we work with. As always, we’ll also feature our latest news, features and updates that keep our supporters in the spotlight.

People affected by muscle-wasting conditions are at the heart of everything we do.

Saturday 11 October Beardmore Conference Centre in Glasgow

National Conference and AGM Saturday 18 October Hilton Hotel in Coventry If you’d like to find out more about our conferences, please get in touch with Lyn on 01132 301313 or lyni@muscular-dystrophy.org

Here’s how you can get in touch with us The Editor Muscular Dystrophy Campaign 61A Great Suffolk Street London SE1 0BU t: 020 7803 4836 e: targetmd@muscular-dystrophy.org tw: @TargetMD or @RuthWriter

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The new Avantgarde3 Living ahead!

31 year old Nina is a model, mother, wife and rugby player. She lives her dreams and enjoys life to the full. When posing before the camera Nina emits passion, beauty and radiance that even her wheelchair cannot distract – quite the reverse!

© Ottobock UK/ADV/MOB/0378

‘I would like to make a difference and hope my actions inspire others with a similar disability, to have the courage to live their dreams’. Following a car accident that changed her life leaving her a quadriplegic, with the assistance and support of family and friends Nina energetically fought her way to regain her old (new) life back. ‘Most important is a healthy self being and feeling of value, whether disabled or not. I have learned to live with change and have become extremely disciplined’ states Nina.

‘Obviously my family and modeling career keep me extremely busy, however, during 2008 I commenced a new hobby and actively and enthusiastically play wheelchair rugby defense for the Maple Panthers. Rugby is like playing chess, only more complicated since the figures move considerably faster!’

Ottobock

0845 600 7664 · www.ottobock.co.uk

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www.muscular-dystrophy.org

For Christopher

Gerry and Geraldine McCollum have been involved with the Muscular Dystrophy Campaign since 1989, when their son Christopher was diagnosed with Duchenne muscular dystrophy. When, sadly, they lost their much-loved only child in 2001, they were determined to set up a fund in Christopher’s name, and to continue to fight for services that were lacking in his lifetime.

“For boys with Duchenne muscular dystrophy, whose needs change all the time, there is no time to waste,” said Gerry. “There is no sense of urgency in the healthcare system, so Geraldine and I fundraise and campaign to make sure no-one has to wait for services and wheelchairs like Christopher had to.”

Christopher was born in 1984 and, at the age of two and a half, he broke his thigh and was in hospital in traction for three months. Afterwards, Gerry and Geraldine could see there were things he didn’t want to do, such as go up a slide, and they thought he was scared of hurting his thigh again.

“After a while, we took him to a consultant who didn’t really take us seriously. Only once a physiotherapist saw him did we know what we could be dealing with. They took a blood test, and a week later told us it may be muscular dystrophy, which we had never heard of. We then had to take him for a muscle biopsy and wait a few weeks for the results.

“In those days there was a Muscular Dystrophy Week right across the UK and there were full-page features in all the major newspapers. We read a story in one of those that sounded similar to Chris’s, and so I took a few newspapers along with us when we went to the Royal Victoria Hospital to see the consultant.

At the point of diagnosis, we were told about the Muscular Dystrophy Group (as it was then known) and asked if we wanted to hear from them. We did, and Oonagh Morrison, family liaison officer, called us that day to offer her support and tell us about the branch in the Bangor area. She also gave us the name of the Chairman as someone we could chat to,” Gerry said.

“That person was Barry McKnight. Barry was the first person

I’d ever met who was in a wheelchair. Without him, I don’t know how we’d have got through those first few months. We then met other families in the Bangor branch who were also affected by muscular dystrophy. I think it is a good thing to have a network of people who understand what you are going through,” said Gerry.

Being involved with the branch and “fundraising helped us in coming to terms with

Christopher’s condition and it also showed him that people were thinking of him.

Gerry

“

“Michaela [Hollywood – see p12] today inspires us more than anybody and keeps us going as she is unbelievable. When you have been in this as long as we have, and we read Michaela’s blogs, we are so glad we are still involved.”

Gerry and Geraldine are clear about what they would say to any family newly-diagnosed with Duchenne muscular dystrophy and dealing with changing needs and decreasing mobility.

“We could not believe our son was going to be in a wheelchair but what we learnt is that your boy takes you through it. By the time the wheelchair is needed, the boy cannot wait to be in it.

Don’t worry, your son will lead you through this; boys tend to live in the moment and Christopher did exactly that with us.”

When Christopher was left with a wheelchair that had no proper headrest, the family had to wait 18 months before Christopher got a powered wheelchair with the correct support for him.

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After Christopher had corrective surgery, at 13, there was no proper assessment of his posture or his evolving needs and he was left in the same wheelchairs which were clearly not right for him.

“The NICE guidelines today don’t mention delays – you cannot recommend what kind of wheelchairs you need, and not talk about delays and the damage it can cause,” said Gerry.

“We met the Health Minister in 2000 to discuss better care and support and when arranging another meeting in 2001, Christopher said he wanted to go along as well to say what he thought, as he also wanted to help others. Unfortunately, Christopher died before he could get the opportunity to do this.

“Geraldine and I knew we had to carry on, and in 2006/2007 we set up The Christopher McCollum Fund. We raise funds for equipment and research (specifically through the Duchenne Research Breakthrough Fund) and we raise awareness in government of the needs of families affected by Duchenne muscular dystrophy. We are currently Sainsbury’s Charity of the Year, here in Bangor.

“We were recently doing a collection in Sainsbury’s and the consultant who diagnosed Christopher came over to us to make a donation. She remembered Gerry going to see her and he had a pile of newspapers with him!” Geraldine said.

“Christopher was a huge fan of Manchester United, as are Geraldine and I, so it was great to stand and collect money for the Muscular Dystrophy Campaign from Liverpool fans at a game in Belfast. They were very generous! Another thing we would never have expected was to go to a Liverpool Supporters’ Club, but last year we went to the Portadown branch to collect a cheque for £500 for the Muscular Dystrophy Campaign. I’m pleased to say we survived to tell the tale,” said Gerry.

Recently Gerry visited a local Rotary club to collect a cheque

for the charity, and took with him a newspaper article about his collecting a cheque from the same Rotary club 21 years ago.

Gerry told them if it weren’t for people like them supporting the charity at that time, the charity would not be in the position it is in today, supporting families as well as research.

“We are so glad to remain involved and to be making a difference. The Muscular Dystrophy Campaign is really active here in Northern Ireland – it has always treated Northern Ireland the same as Scotland, Wales and England – and we are part of the All Party Group on Muscular Dystrophy, members of the Northern Ireland Council and part of the newly-formed Muscle Group.

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One of our best days was when The McCollum Report, which contains 15 recommendations, was debated in the Northern Ireland Assembly, and we heard the MLAs mentioning Christopher’s name. It’s thanks to the Muscular Dystrophy Campaign that all of this is happening.

Gerry

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“We have a long way to go, and it will be difficult to get all the recommendations through, but we’re still here and we’re not giving up. We give up our time to do this as that’s what we promised Christopher and how he would have wanted it,” said Gerry.

If you’d like to find out more about the work of the charity in the NI Assembly, or the Christopher McCollum Fund, please visit our website or join us at www.muscular-dystrophy.org/ northernirelandfacebook

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Running in the family Dr Amy Jayne McKnight – or AJ as she is known – chairs the Northern Ireland Council. Not only does she bring a strong family perspective and much energy to the role, but also her professional skills and experience as a geneticist.

A

s a third generation family member to become involved with the Muscular Dystrophy Campaign, AJ took on the role of Chair of the Council in 2012. Her grandfather founded the Muscular Dystrophy Group in Northern Ireland in the 1950s, and her dad, Barry, chaired the Council for some time. Barry and Cindy (AJ’s mum) also for some years represented Northern Ireland at national council meetings in London.

“My dad has SMA type 2 and he ran a heating and plumbing department for a major company for about 40 years, as well as teaching and running his own company. As a family, we believe in offering a more positive spin on life with a muscle-wasting condition. When my grandfather set up the charity in the 1950s, it was in the form of a support group to offer families a great place to share experiences and support each other. I would be keen to see this support network back in some form. There are about 2,000 people in NI affected by muscle-wasting conditions.

“Knowing how it was for us as a family, I understand how important it is for newly-diagnosed people to connect with others,” AJ said.

Working from the Building on the Foundations Report (2009), and The McCollum Report of 2012, AJ has valued the opportunity to collaborate with other rare disease organisations in Northern Ireland and get more engagement with the public and the State to help with care pathways and better diagnosis, and to do the Living with rare diseases survey.

“I hope we can continue to build on these actions. I am really pleased with how things are going so far, as we are getting more engagement from the policy-makers and commissioners. There is still a lot to do and we are keen to push for these changes.

“We have been really pleased to have neuromuscular conditions as the focus for the rare disease strategy in Northern Ireland; the Northern Ireland Rare Disease Partnership (NIRDP) is using the protocol for neuromuscular conditions as the pilot ‘patient pathway/journey’ concept for developing a broader strategy, which is helpful,” AJ said.

There will be two aspects to this project, with the first focused on improving the process for early investigations and diagnostics, which will be led by Dr Fiona Stewart. The second stage is focused on care, management and life needs (including professional education, clinical and social aspects) for families. The second stage is a collaborative effort building on some excellent resources that exist for England, Scotland, Wales as well as internationally.

“At a recent debate on muscular dystrophy in the Northern Ireland Assembly, there was unanimous cross-party support for improved services in Northern Ireland, which Health Minister, Edwin Poots MLA, acknowledged.

The plan for this muscular dystrophy “patient pathway is moving forward with

strong enthusiasm and support from the Public Health Agency, Health and Social Care Board, allied health professionals, local consultants and many others.

“

The charity is also contributing to discussions on respiratory resources and services (including community ventilation) in NI, transition from paediatric to adult services, and it has also been invited to participate in the new review of paediatric services.

Another promising development on AJ’s watch has been the appointment of a neuromuscular care advisor, following continued pressure from our supporters.

“NI generated valuable epidemiology studies in the 1950s.

We hope these latest encouraging developments will help shape healthcare services for children, young people and adults in NI with muscle-wasting conditions,” AJ said.

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A powerful voice When Michaela Hollywood (24) describes the condition she has (spinal muscular atrophy – SMA type 2), she says she cannot do anything for herself but talk. The power of her words is not only changing the landscape for disabled people in Northern Ireland but when she speaks – and she does so with passion, conviction and authenticity – people listen.

Her spoken words have captured the attention of politicians and families and led to the formation of Trailblazers and her widely-acclaimed and candid writing has connected her with people right across the globe.

Michaela found her campaigning voice when she was 17.

“I jumped in head first when the Building on the Foundations: The need for a specialist neuromuscular service across England report was launched in London in 2007. We were lobbying Gordon Brown, the then Prime Minister, on physiotherapy services in Northern Ireland. I recognised the power of the personal testimony in lobbying, as I got speaking to the Health Minister, Baroness Celia Thomas and Dave Anderson MP. It was then that I realised the huge difference conversation could make,” Michaela said.

Michaela returned to her home in Crossgar in County Down in Northern Ireland with an appetite for campaigning and an expectation of change.

“At the time, our local arena was not allowing wheelchair users on the ground floor. I was outraged. We went on a family weekend and we all ended up talking about this. The then CEO of the Muscular Dystrophy Campaign was there, and we talked about the possibility of what eventually became the campaigning network of young disabled people, the Trailblazers. We set up our first meeting in Northern Ireland with about 30 young people, and soon things were beginning to change – we saw chip shops being closed down because they weren’t accessible, for example.

“It has been incredible to watch and see the group grow and grow, and it is still gaining traction, which is fantastic. What makes the network so powerful is that young disabled people have a voice. It doesn’t work to have able-bodied adults speaking on behalf of disabled youth,” Michaela said.

“We hope to revolutionise things so that in time things will become so much better. The impact we have had and we will have will ensure things change; I’m sure it will be felt in decades to come.

“We are challenging perceptions, and changing the stereotypical analysis of disability in general. I’ve always said the work of the Trailblazers could become as big and as powerful as the civil rights movement, but it could never have happened without the Muscular Dystrophy Campaign.”

The youngest of four daughters to Michael and Marie Hollywood, Michaela says her earliest memories are of the family weekends run by the charity. It was also the charity that was first to offer support to the family at their time of devastating loss when Michaela’s sister, Martina, who had SMA type 2, passed away.

“I don’t ever remember a time when the charity wasn’t involved with us as a family, and I can’t imagine where we would be without the charity. Even when I was in hospital as a little child, Oonagh (the then family liaison officer for the charity) was the visitor we could rely on other than family.”

Michaela went to school at St. Mary’s High School in Downpatrick, and when she decided to do chemistry for her ‘A’ levels, she fought and won a disability discrimination case to gain home tutoring after she was refused transfer to another local, fully accessible school. She needed to have a lengthy assessment, and believed had she been able-bodied, the school would have accepted her immediately. The case was the first to be won under the Disability Discrimination Act for Education in Northern Ireland.

In 2012, Michaela was nominated and then selected to carry the Olympic torch in Dromore. She recalls this with trademark magnanimity: “If I had a penny for every person over the years who has asked me which day centre I go to, I’d be a millionaire! So carrying the Olympic torch was, for me, an incredible opportunity to remind people that we disabled people are here, we are valued members of society and we are not people who go to day centres! It was a great day not just for me and my family, but for every disabled person and everyone here in Northern Ireland.”

Michaela has since taken the torch around to local schools, not only to raise awareness about disability, but also to raise funds. Some of the money raised went towards paying for an MRI scanner for the children’s hospital.

“I told the children about the charity, but they also got to see me – and disability – in a different light. I talked about disability, my powered wheelchair and how it works, as well as the need to treat disabled people like human beings. Kids often say funny things to me in public because they don’t know any better. I don’t mind answering their questions, and they are happy when they

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I had a penny for every person over the years “Ifwho has asked me which day centre I go to, I’d be a millionaire! So carrying the Olympic torch was, for me, an incredible opportunity to remind people that we disabled people are here, we are valued members of society and we are not people who go to day centres!

“

Michaela

get their answer. But it’s important for children to see disability in a positive light and if they are exposed to disability at an early age, they will. It would be great to get disability awareness fed into the school curriculum,” Michaela said.

A student on Jordanstown campus at the University of Ulster, Michaela has just successfully completed her Public Relations (Honours) degree with a first-class pass, and is planning to do a Masters in Communications and Public Relations, with a specialism in political lobbying. Her dissertation looked at An investigation into political lobbying by health charities in Northern Ireland.

“I would love to work in lobbying – having done that since I was 17, I cannot imagine not doing it. Because I have a journalism background, I could never turn down a job in journalism, but my heart is in lobbying and policy,” she said.

Michaela’s current lobby is for power generators.

“I rely on a ventilator and various other pieces of equipment at night, so I need a constant power supply. I’m taking up this issue, however, not only for our family but as a wider policy issue. I am also pushing for a health passport for people to carry around, with electronic access to all of their medical records. I don’t care if they tattoo a QR code on my wrist – we need this information available for emergencies.

“I believe in equality for everyone and not just on my terms.

There need to be disabled people in politics, and the more time I spend in Stormont, the more I can see myself being there and doing that kind of work.”

Having Michaela in Stormont would send a message not only to disabled people, but to all fun-loving, music-loving and social media-savvy young people across Northern Ireland. A powerful voice that will challenge and bring about change.

n Michaela’s condition

Spinal muscular atrophy (SMA) Spinal muscular atrophy (SMA) is an inherited condition which may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. There are several distinct types of SMA, and they all vary greatly in severity. The symptoms of SMA type 1 (the most severe form) appear within the first few months of life, sometimes before birth. Children are never able to sit unaided and rarely survive their second birthday. The symptoms of SMA type 2 usually appear between the ages of seven and 18 months. The condition is severely physically disabling, with children never able to stand unaided. Although SMA type 2 remains a serious, life-limiting condition, improvements in care standards mean the majority of people with this condition can live long and productive lives. The symptoms of SMA type 3 (a less disabling form) appear after 18 months; children are able to stand and walk, and experience reduced walking ability over time. Life-expectancy is not limited and most people can live long productive lives.

The symptoms of SMA type 4 – adult onset SMA – are not life-threatening. www.muscular-dystrophy.org/sma

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Myotonic dystrophy support in Northern Ireland Pat Montgomery runs the MYDY Trust in Northern Ireland.

Here’s a Q and A with Pat, as an introduction to the Trust that is there for people affected by myotonic dystrophy.

Can you tell me about MYDY Trust?

MYDY Trust was established in 2007 by me with assistance from my husband, daughters and friends. I realised no-one in Northern Ireland had contact with families who had myotonic dystrophy. We discovered it in our family in 1986 when my sister gave birth to a son who had congenital myotonic dystrophy and he only lived for three days. The aim of the Trust is to provide facts, information and support for local families and their carers. We also aim to raise awareness about the condition among medical professionals, and help fund conferences and information days.

What are the biggest challenges facing people in Northern Ireland who are affected by myotonic dystrophy?

n Pat’s condition

The biggest challenge facing people here is lack of access to a team of professionals who know and understand the condition. Because the symptoms are so diverse, it is difficult to detect, and GPs are not well-enough informed – in fact some GPs have never heard of it.

Myotonic dystrophy, which affects more than 9,000 people in the UK, is the most common form of muscular dystrophy in adults and causes muscle weakness and stiffness. It can also affect other parts of the body causing, for example, cataracts and abnormalities in the heart and brain.

The age of onset of the condition and its severity show enormous variability between individuals – some people may only experience very minor symptoms in old age while others experience more severe symptoms from birth.

Myotonic dystrophy is caused by a type of mutation in the DNA called an expansion – where extra code is added to a gene. Recent research has increased understanding about how this type of mutation causes the symptoms observed in the condition. Researchers also know that the expanded DNA can get bigger through generations of a family (with children having a bigger expansion than their grandparents, for example).

Visit our website to find out about clinical trials in progress, and about research we are funding to identify biomarkers and outcome measures for the effectiveness of the potential treatments in these trials. Around the world, researchers are also developing new technology including exon skipping which may have the potential to target the underlying genetic cause of the condition, and clinicians are developing standards of care. Also read about how the charity supports people affected by myotonic dystrophy. www.muscular-dystrophy.org/myotonic

Do you have an idea of how many people in Northern Ireland are affected by myotonic dystrophy?

When I started the Trust there were about 400 families in Northern Ireland affected by myotonic dystrophy. It is the most common form of muscular dystrophy and is unfortunately one of the least known or understood.

What do you think families affected by myotonic dystrophy need most at the time of diagnosis?

Getting the diagnosis of myotonic dystrophy is very frightening. What people need most at this time is information, ideally from someone who has empathy and good communication skills and a passion for their job. That person should be in a position to refer them to a joined-up team of genetic, neuro, medical, physio, and counselling services but something like that costs money and our local health services don’t have it, or if they do they don’t think it is important enough to direct funds to it.

How and when did the Trust come into contact with the Muscular Dystrophy Campaign?

I had great support from Oonagh Morrison who was the family liaison officer at the time, and when we ran our first information day the Muscular Dystrophy Campaign supplied us with information booklets.

Can you tell us about the Information Day you held in September last year?

It was held in my local village hall – Portballantrae Village Hall – on the North Coast just outside Bushmills, near the famous Giants Causeway. We had 55 people there – family members and carers. Dr Alex Magee, our keynote speaker, talked about how myotonic dystrophy is passed down through the generations, the latest research and hopes for the future. We had a talk about how to access benefits and what people were entitled to claim for.

Our local disability group has formed a rock band and they provided entertainment for us.

Artists ran a workshop making clay frogs, which was mucky but great fun! We played Boccia and New Age Kurling, and had fantastic food. It was friendly, informal and gave everyone a chance to mix. This was the third such day I have run; I will have another one perhaps next year.

What sort of feedback did you get about the information day?

People felt it was well worth the journey. One of the women there, who has myotonic dystrophy, said it felt brilliant not to be embarrassed crossing the room in front of people. Because of her gait, she is often accused of being drunk. To me that said it all: we are so isolated and many people live in a rural setting, so getting together with people who understand is vital.

Myotonic dystrophy

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Community-minded Karen is up for the fight SDLP South Down MLA Karen McKevitt, newly-appointed Chair of the All Party Group (APG) on Muscular Dystrophy in the Northern Ireland Assembly, is keen to roll up her sleeves and get involved in the work of ensuring delivery on issues raised in the McCollum Report.

The mother of five joined the APG in early 2013 through an introduction by outgoing Chair, Conall McDevitt. Karen had also come across Michaela Hollywood (see p12) through social media and followed her stories with much interest and compassion.

“I would read about what was happening to Michaela in hospital, her symptoms, right down to the food in the hospitals.

That was my introduction to muscle-wasting conditions – I never knew anything about them at all before that.”

Karen said her eyes had also been opened to the caring role of Michaela’s mother and what that involved.

“When I first met Michaela earlier this year, she was doing a dissertation for her college degree and came to meet with me at Stormont. I was amazed at how her mum put her own needs aside to support Michaela – that just blew me away.

“The carer’s role is so important – it needs to be protected so carers are allowed to be proper carers and treated with the respect they deserve. That will be an aim of the APG – I will dig a little deeper and see if we can help change this for the better.

“I have also learnt how people affected by muscle-wasting conditions have to fight all the way along – for help, for wheelchairs, for care, for specialist support, for appointments with therapists.”

Karen has always had an interest in community affairs and has worked with many community groups. It was only when she became a parent that she realised the impact of high-powered political decisions on the welfare of families and children.

“I began forming strong opinions on decisions made regarding education, healthcare, provision of local sporting facilities and many others. I describe my politics as ‘around the kitchen table politics’, as that’s where it started. If we, as family, are discussing

or indeed arguing an issue over a cup of tea or dinner, then be assured many other families are doing the same,” she said.

Karen sits on the Culture, Arts and Leisure Committee and on the Business Committee and is currently Deputy Whip on the Assembly Group in the party, and Parliamentary Private Secretary to the Environment Minister. She spends three days a week at Stormont, and two days in her own constituency.

“I was never expecting to be a part of a group like the APG; it was not on my radar, but I am so glad to be there. I still seek Conall’s advice to bring the group forward and help people deliver on issues.

“We will invite the Health Minister to our All Party Group so he can hear all the struggles people with muscular dystrophy have on a daily basis. As a lay person, I was expecting all of these services to be in place and I was shocked to realise they were not. I have been having discussions with the NIE (Northern Ireland Electricity) about the need for power generators at home for those who are on life-preserving machinery that requires electricity. Equally, the shortage of neuromuscular physiotherapists needs to be highlighted in schools so young people are encouraged to consider careers in the field; this is an area that should be addressed on a basic level.

“We are up for the fight. However long it takes, I will be there to take this on. I am keen to see delivery of issues raised in The McCollum Report and we should be able to put the right pressure points to the Minister to deliver on these,” Karen said.

The Muscular Dystrophy Campaign provides all the organisational support for the All Party Group on Muscular Dystrophy in the Northern Ireland Assembly. If you’d like to find out more, please get in touch with Jonathan on 020 7803 4839 or j.kingsley@muscular-dystrophy.org

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Where would we be without you?

The truth is, we wouldn’t be able to fight muscle-wasting conditions without your support.

Hello, I’m Abbi. I’m four. I like school.

My muscles are poorly, so sometimes I have to use my wheelchair.

A

bbi has a rare muscle-wasting condition called Ullrich congenital muscular dystrophy. She can walk but she cannot jump and she battles to get up after sitting.

Sometimes even a strong gust of wind could knock Abbi’s frail little body over. Her muscles will weaken and waste over time and she will most likely use a wheelchair full-time through her teen years. And she’ll struggle to breathe unaided.

ABBI ADVERT

The Muscular Dystrophy Campaign has given Abbi’s mum and dad emotional and practical support, as well as information about Abbi’s condition. The charity funds pioneering research into muscular dystrophy and other related neuromuscular conditions. Abbi’s family hopes that one day there will be an effective treatment – or indeed a cure – for her condition and others like hers.

We have been able to do this work because people like you support us with voluntary donations and gifts in your Will.

You don’t have to be wealthy to leave a gift to us in your Will.

When you remember the Muscular Dystrophy Campaign in your Will, you are helping to build a future for children like Abbi. Today.

None of this work, now or in the future, is possible without you.

For more information on legacies and to request an information booklet please get in touch with us at: t: 020 7803 4834 e: legacy@muscular-dystrophy.org w: www.muscular-dystrophy.org/legacy

Registered Charity No. 205395 and Registered Scottish Charity No. SC039445

www.muscular-dystrophy.org 19

My life

in pictures Being diagnosed with a neuromuscular condition was a lifechanging experience for Denise Ross. At first it seemed to bring with it only loss – her career and her mobility – but over time, it has brought Denise an exciting new creative opportunity: the former hairdresser has now turned her hand to photography.

A

s a hairdresser, Denise (41) was always on her feet. When a friend commented on her unusual way of walking, Denise immediately thought it was because of the high heels she loved to wear. She didn’t think it could be connected to the daily fatigue she was feeling, or the occasional fall, or the difficulty she found walking stairs. Neither did she link it to the diminishing strength in her hands.

It was only when Denise was referred to a neurologist and had a series of blood tests, nerve tension tests and a lumbar puncture that she discovered she had the condition which she was unaware had run through her family. Hereditary and sensory motor neuropathy – or CharcotMarie-Tooth disease (CMT) – were words that meant little to the then 27-year-old.

“Alarm bells went off when my GP

suggested I should see a neurologist.

When I was eventually diagnosed with CMT, I knew nothing at all about the condition. I didn’t know if I’d end up in a wheelchair, or how the condition would progress. I recognised that as a child I had often had cramps in my legs, and I tripped over everything,” Denise said.

Soon after her diagnosis, she was called in to meet with her employers at the hair salon to discuss reasonable adjustments to her working week. Denise realised it was a matter of time before she’d have to give up her much-loved profession and, after two years of scaling down her hours, that time came.

“It broke my heart leaving hairdressing.

I tried to stay in the industry, but it was not to be. The physical requirement to be on my feet all day, together with the increasing risk of falling, made it impossible for me to continue. I felt like

my life had ended when I left,” Denise said.

The next ten years brought with them joy and pain in equal measure. Denise got all the benefits to which she was entitled, she moved out of her first-floor flat to a ground-floor flat where she didn’t have to deal with steep stairs, she learnt to drive and got an adapted vehicle. She fell pregnant and gave birth to her daughter, Leah, in 2004. Denise was proud to have carried her to almost full term, and was delighted when tests proved she didn’t have CMT. However, a case of post-natal depression evolved into a growing depression that gnawed at Denise’s sense of self-esteem. She felt she had limited career opportunities; she completed a number of courses and was unsure what she was going to do next.

“About five years ago, I was going out with a keen photographer who challenged

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Support networks in NI When Oonagh Morrison worked as a Regional Organiser/Family Care Officer for the charity in Northern Ireland from 1979 to 2008, the charity’s goals were to support families, and to fundraise for medical research.

“

me to a photo competition. As soon as It has been so encouraging to he saw me hold the camera, he told me connect with the charity, and to I was a natural. His encouragement understand how big the community boosted my confidence, and led of people affected by CMT is. to my exploring the possibility of organisation familiar with my condition. becoming a photographer,” she said.

After getting in touch with the charity’s After a year, Denise got her London office, I was put in touch with own camera, enrolled to do a basic Sarah (the then Neuromuscular Outreach photography course, a GSCE in and Engagement Officer in the charity’s photography and then she successfully Northern Ireland office) and I told her earned a place at the SERC Bangor about my project,” Denise said.

Campus to do a two-year HND (Higher Denise plans to work as a professional National Diploma) in photography. Her photographer once she’s completed tutors soon noticed her keen eye for her HND later this year. She already has fashion photography, and have not only bookings for a couple of forthcoming encouraged her in her work, but have also weddings, and looks forward to exploring ensured she gets the support she needs other opportunities. She would love to do for the physical tasks she finds difficult. a solo show as she wants to progress her “My social worker told me years ago Final Major Project further, and to publish about the Muscular Dystrophy Campaign, her own book highlighting the difficulties but I didn’t make any contact. When I of having CMT. started my Final Major Project at college “Although CMT has taken hold of me (highlighting the everyday struggles of physically, it has also shown me there is so living with a neuromuscular condition, much that is possible, and it has opened see photo above and on p19), my tutors my eyes for me to follow my passion.” encouraged me to reach out to an

“

n Denise’s condition

Charcot-Marie-Tooth disease (CMT) Around 23,000 people in the UK are affected by CMT. Clinicians believe that it is not one condition, but rather a group of conditions which share superficially similar symptoms and which are sometimes called hereditary motor and sensory neuropathy (HMSN). The conditions give rise to weakness and wasting of the muscles below the knees – and often those of the hands – and are caused by mutations which affect the functioning of the peripheral nerves.

These nerves deliver signals from the spinal cord to the muscles and from the skin back to the spinal cord. People with CMT experience motor problems when the nerves which control the muscles are damaged. This can cause numbness or sensory problems if the nerves travelling from the skin to the spinal cord are damaged.

The Muscular Dystrophy Campaign provides advice and support for people affected by CMT, as well as for health professionals. We lead the search for treatments and cures for muscle-wasting conditions. If you’d like to find out more, please visit our website or contact our research team on 020 7803 4813 or research@muscular-dystrophy.org www.muscular-dystrophy.org/cmt

“When I joined the charity, there was just one branch, and my remit was to establish a branch network across the whole province over the next three years.

The NI Genetic Centre was in contact with about 90 families across the province and with the support of these families, I set up support and fundraising branches close to where they lived,” Oonagh said.

“It was good for families to be involved with other families, in similar circumstances, to get local information. The diagnosis then begins to feel less daunting. Support was always the priority in joining a branch, but the opportunity to raise funds for medical research also gave people a chance to hit back at the condition.

“Both the Muscle Clinic and the charity were supportive of residential family weekends and condition-specific information days. The charity made a huge difference to about 400 families across Northern Ireland. Many families today talk of the charity being there for them right from the point of diagnosis.” Oonagh said.

“We understand that families value support at these difficult times, and we are delighted paediatric support is available.

We are very much aware of the need for transition and adult support too, and two new care advisor roles will soon be filled.

As a charity, we are directly investing in family and fundraising support in Northern Ireland – keep an eye on our website for more information,” said the charity’s Chief Executive, Robert Meadowcroft.

There are a number of ways to get involved with the Muscular Dystrophy Campaign in Northern Ireland. If you’d like to join Trailblazers, go to a local Muscle Group meeting, get involved in the charity’s campaigning work or simply to be put in touch with other families affected by muscle-wasting conditions, do get in touch with us on 0800 652 6352 or info@muscular-dystrophy.org

www.muscular-dystrophy.org 21

Meet the Bailies Dr Janet Bailie leads a busy life. As an out-of-hours GP with a moderate addiction to golf, she’s mother to three teenagers, secretary of the charity’s Northern Ireland Council and co-ordinator of a clinical team of healthcare professionals. She also fundraises for four charities.

J

anet and husband, Roy, along with their children – Jenny (17) and 15-year-old twins Claire and Andrew – live in Country Antrim in a house they have had adapted to cater for Andrew’s changing needs. Janet shares their story: Andrew was diagnosed with Duchenne muscular dystrophy when he was three and a half years old. Someone working at his nursery commented on the way he walked, and asked if we’d had him checked. We asked the consultant at the paediatric clinic what she thought, and she ordered a blood test straight away. I suspect she had an idea of what we were dealing with. She tried to contact us that evening but we were out, so called the next morning (Saturday) to ask if she could come round. She came to tell us Andrew had Duchenne muscular dystrophy; she gave us some explanation of what that meant and left a leaflet with us.

Although we had the most personal and thoughtfully delivered experience of learning about Andrew’s diagnosis, it was still as though our family life had exploded. The ‘bad news bomb’ went off and it took a long time to get our hearing back. The only things we could think of were ‘wheelchair by 11’ and a ‘short, disabled life’.

I put my head in the sand for about three years, deciding just to concentrate on being a loving mummy. Roy trawled the Internet for information that would bring hope.

important for newly-diagnosed families “to It’sknow there is ongoing genetic research, and

that men with Duchenne muscular dystrophy are living to an older age with the right care and support in place.

Illustration: Kayann/istock.

“

Roy eventually found positive research results and treatment possibilities and pulled me into the hope that there was something we could do to make a difference. We asked our local geneticist to forward letters from us to other families affected by Duchenne muscular dystrophy, so we could get together. We developed an initial plan to find the best current treatment and import it to Northern Ireland, so I went to Newcastle upon Tyne to find out from Professor Katie Bushby how they managed the condition there.

At that time in Belfast, the multi-disciplinary clinic was folding as the consultants were retiring and, although the care was good, treatment was outdated. After spending a day with Katie, Louise Hastings and Michelle Eagle, I was able to understand how they implemented their published protocol for the management of Duchenne muscular dystrophy. I wrote a summary and, at a routine appointment for Andrew in 2007, asked the

consultant if we could do this care model locally. The response was quite negative.

It was clear we needed to do some lobbying. I contacted the Muscular Dystrophy Campaign to help us lobby, which they did.

In January 2010, the Newcastle protocol was superseded by the TREAT-NMD protocol, and locally we have been trying to implement this. I co-ordinate networking meetings among local clinicians who provide care, and the network has been expanding to all the relevant health professionals. My next aim is to get this incorporated officially into the trust and board structure, so rather than just having the good will and enthusiasm of the network participants, we’ll have a voice in commissioning improved services.

We also want to see The McCollum Report implemented in full, so we are pushing for responses and action.

Roy and I continue to lobby Stormont, personally driven by our desire for Andrew to have access to better treatment, naturally, but also to see improvements in care for everyone with a neuromuscular condition. Some responses have been positive, but it’s frustrating to see so little real improvement in the clinical care available. The Muscular Dystrophy Campaign has made strides with the care advisor post being taken on by the local Trust, and the local health board has provided a named lead for commissioning, but there is still a long way to go.

were told Andrew would need a wheelchair “at We 11, but he’s still walking independently at 15. In January, we discovered the gene deletion Andrew has, means a slightly improved prognosis for him. We are still adjusting to this, trying to work out what this will mean for him, but it’s our own wee miracle.

“

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Yoga in Lurgan Once a month, Stephen McConville gets a visit from Sayon Cheung Mulligan. The yoga instructor comes to his house in Lurgan for an hour-long one-to-one session of yoga therapy.

Stephen (42) remains in his comfortable chair throughout the session, which promotes calm, relaxation and focus, renews his energy and improves his breathing. Stephen has mitochondrial myopathy.

Sayon trained as a yoga instructor and after working in the field for ten years offering classes to the general community, she felt there were many people who were not able to go to her yoga classes for whatever reason.

“I wanted to be able to make yoga accessible to everyone; encouraging the meaning of yoga – uniting the mind and body. I trained in remedial yoga for sports injuries, and discovered there was more to it than bad backs, tennis elbows and frozen shoulders; yoga therapy was for everyone. When the community health centre approached me to teach yoga there, I adapted my class accordingly.

“Whenever you are trapped in the body and cannot do something, it draws an inward thought into your mind. If you can go for a run and switch it off, that helps. If you can’t, yoga helps you channel your inner energy to promote a sense of wellbeing,” said Sayon.

Stephen finds it hard to describe what yoga means to him.

“After yoga therapy, I am always amazed. I would not have believed what it can do – I definitely feel the energy rising throughout my whole body, and I draw a sense of calm.

The relaxation exercises work so well that afterwards all I want to do is sleep!

“After doing the yoga breathing exercises – even from the first session – I found I had renewed strength and I can feel the benefit of it in my breathing. I’d recommend it to anyone,” Stephen said.

Stephen was diagnosed with mitochondrial myopathy when he was five years old.

Still ambulant, he will be getting his first powerchair in the next few weeks. He grew up in Lurgan and has been living independently, in his own home, since 1989, and he values the real sense of community in the area as everyone looks out for everybody else.

If you would like to find out about yoga therapy for yourself, do check with your GP first.

n Stephen’s condition

Mitochondrial myopathies Mitochondrial myopathies, a group of mitochondrial diseases that affect around 3,500 people in the UK, can cause debilitating and life-threatening muscle weakness. There are no treatments or cures.

Mitochondrial diseases are caused by problems with the mitochondria – the ‘batteries’ that turn food into energy and power the cells in our bodies.

Mitochondria have their own small piece of DNA, which is separate from the vast majority of our DNA. If the DNA in the mitochondria is damaged, this can result in mitochondrial disease.

Damaged mitochondrial DNA is inherited only through the mother.

The Muscular Dystrophy Campaign provided £1.3m towards research at Newcastle University, led by Professor Doug Turnbull and Professor Mary Herbert to develop an IVF technique that may have the potential to prevent affected mothers transmitting the condition to their children.

Visit our website to find out how we support people affected by mitochondrial myopathy. www.muscular-dystrophy.org/ mitochondrial

Help us map specialist services We are developing an online map of specialist neuromuscular services right across the UK. We would like it to be as comprehensive as possible, so please let us know which services you know of in your local area:

Belfast will play host to the first and only DisabilityPride Parade to take place in UK and Ireland, on Saturday 20 September 2014, with a carnival parading through the streets to the City Hall, where there will be a concert and retail village.

The overall mission of the Disability Pride Parade is:

hydrotherapy pools

n

n

motor vehicle adaptation centres

n

n

respite services

n

n

n

physiotherapists and occupational therapists, specialising in neuromuscular patients suppliers of living aids and mobility equipment.

Please contact Bobby Ancil on 0792 0188 970 or b.ancil@muscular-dystrophy.org

to change the way people think about and define “disability” to break down and end the internalised shame among people with disabilities, and to promote the belief in society that disability is a natural and beautiful part of human diversity in which people living with disabilities can take pride.

DisabilityPride Belfast will be a fun-filled day to meet old friends, make new friends and have a party right in the centre of Belfast.

The movement originally started in Chicago in 2003 and has been spreading around the world, now trip-ability.com has been asked to bring it to Belfast, the first and only city in the UK and Ireland to host the event.

The Muscular Dystrophy Campaign will be in the Parade and have a tent in front of City Hall, so keep an eye on our website and on www.disabilitypride.co.uk to find out more.

Join us If you’d like to read stories that inspire, inform and connect, do join us and subscribe to our magazines Target MD and Target Research.

It will cost you just £18 a year, which will cover the cost of producing these magazines entirely in-house. That leaves more funds available to be spent on our work in beating muscle-wasting conditions in the UK.

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n If the amounts to be paid or the payment dates change Muscular Dystrophy Campaign will notify you 10 working days in advance of your account being debited or as otherwise agreed. n You can cancel a Direct Debit at any time by writing to your Bank or Building Society. Please also send a copy of your letter to us.

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News Here we bring you news and information, from all around the UK, of our work in leading the fight against muscle-wasting conditions.

EMA recommends conditional approval of ataluren (Translarna) In late May, the European Medicines Agency (EMA) announced it was to recommend conditional approval of ataluren, or Translarna as it will now be known. The European Commission will now review this decision, and decide whether or not to grant a conditional licence.

Ataluren has been developed by PTC Therapeutics to overcome a specific change in the DNA called a ‘nonsense mutation’, which causes 10 to 15 percent of cases of Duchenne muscular dystrophy. Translarna will be the first-ever drug to treat an underlying genetic cause of Duchenne muscular dystrophy in children and young people affected, outside of a clinical trial.

In January, the European Medicines Agency (EMA) announced that ataluren had not been recommended for conditional approval. PTC Therapeutics, the company that developed the drug, asked the EMA to re-assess the evidence for Translarna.

Translarna will be used only in boys over the age of five who can still walk and whose condition is caused by nonsense mutations – when a single letter of the DNA is changed, placing a ‘stop signal’ in the middle of the gene. The drug can encourage cells to ignore this stop signal and read all the genetic information. In boys with Duchenne muscular dystrophy, it could restore dystrophin protein production in the muscles.

There is more about this breakthrough story in Target Research. In addition, many families have approached the charity, unsure about whether or not their son is affected by a nonsense mutation. If you are unsure, we would encourage you to speak to your specialist neuromuscular consultant or a neuromuscular care advisor who may be able to advise you on how to receive a referral to a specialist. Do have a look at the Q and A on our website too.

On the web www.muscular-dystrophy.org/translarna

Prosensa’s plans to apply for accelerated approval of drisapersen Prosensa recently announced details of discussions with the Food and Drug Administration (FDA) about possible routes in the USA to apply for a licence for drisapersen – a molecular patch for exon 51 of the dystrophin gene. Prosensa can submit an application for drisapersen under the accelerated approval process, based on their current data either using natural history data as a control group, or a placebo-controlled trial of a molecular

patch for a different exon.

Prosensa plans to submit an application late this year, and expects to have further discussions with the FDA. This does not guarantee approval of drisapersen. The FDA can only approve drugs in the USA – approval for marketing in the UK and Europe is regulated by the European Medicines Agency, to which Prosensa will apply at some point. Keep an eye on our website to find out more.

APG in Stormont In early June, people affected by muscle-wasting conditions, along with MLAs, clinicians and representatives of the Health and Social Care Board (HSC) gathered at Stormont to discuss progress towards improving neuromuscular services in Northern Ireland at the All Party Group on Muscular Dystrophy.

The meeting was led by APG Chair Karen McKevitt MLA, and was addressed by Dean Sullivan (Director of Commissioning at HSC), Michelle Tennyson (neuromuscular lead for Northern Ireland at the NSC) and Maeve McLaughlin MLA (Chair of the Health, Social Services and Public Safety Committee).

The charity was pleased to hear that funding had been achieved for two new care advisors and there was progress being made towards other recommendations in The McCollum Report. However, there are still areas in much need of improvement, and we remain dedicated to campaigning for better services and working with Michelle Tennyson and her colleagues at the HSC to ensure people in Northern Ireland have access to the specialist care and support they need.

More care advisor support in the north of Scotland The charity has been working hard to improve services and support in Scotland for people affected by muscle-wasting conditions.

In April, the charity was pleased to announce news of increased care and support for people in the north of Scotland affected by muscle-wasting conditions: Emma Condon, who has been working as Neuromuscular Clinical Facilitator since early 2013, will now also offer care advisor support in Tayside, Grampian, Highland, Shetland, Orkney and the Western Isles. Emma will also work with other healthcare professionals to raise awareness of muscle-wasting conditions, ensuring the needs of those affected are fully met.

If you’d like to keep up-to-date with news of our work in Scotland, email us at info@muscular-dystrophy.org and we’ll send you our Scotland eNewsletter twice a year.

www.muscular-dystrophy.org 25

Progress in East Midlands In mid-May, our Bridging the Gap project focused on the East Midlands Neuromuscular Forum in Loughborough, where we were joined by clinicians, health professionals and patient representatives.

Headline developments shared at the meeting included: n

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confirmation that the NHS will provide initial funding for three care advisor posts in the East Midlands a case is being submitted to Nottingham University Hospital to recruit a new paediatric consultant two new transition co-ordinators have been employed in Leicester to improve transition for children moving to adult services in the area.

The news of NHS England’s support for two additional neuromuscular care advisor posts was most welcome, as the 5,122 people in the East Midlands affected by muscle-wasting conditions currently have the support of only one care advisor.

The Forum will now work with the Trust and commissioners to ensure the swift recruitment of new specialist consultants in Leicester where there is currently only one consultant seeing neuromuscular patients. The consultant has long waiting lists and no support from a multi-disciplinary team.

In early 2013 the charity received funding from the Department of Health to set up the Bridging the Gap project in England, to ensure people affected by muscle-wasting conditions – along with their families – play a leading role in the development and commissioning of the services they use. If you’d like to find out more, please get in touch with Rebecca Johnson on 020 7803 2865 or r.johnson@muscular-dystrophy.org

Audit of muscle service in Newcastle At a recent North East Neuromuscular Forum, NHS England announced they would carry out an audit of neuromuscular services at Newcastle. The audit will look at known neuromuscular patients seen at Newcastle, identifying any admissions they may have had over the past year and the reasons for these. We hope the audit will identify that costly and unpleasant emergency admissions can be avoided by investment in frontline services such as provided by neuromuscular care advisors.

The international Centre for Life in Newcastle is one of the leading Muscle and Nerve Centres in England, providing a multi-disciplinary approach to the management and support of those affected by muscular dystrophy and related neuromuscular conditions.

However, there are still gaps in provision and the same level of support is not available for all patients in the region. One of the key gaps in Newcastle is that there is only one neuromuscular care advisor in the region to provide information, advice and support for over 2,000 patients and their families across the whole of the North East.

“We look forward to seeing the results of NHS England’s audit as well as further improvements in the neuromuscular service so that local patients and families get the support they need,” said Bobby Ancil, Neuromuscular Outreach Manager.

If you’d like to find out more about the charity’s Bridging the Gap project, please do get in touch with Bobby Ancil on b.ancil@muscular-dystrophy.org or 0792 0188 970

Updates from the Trailblazers Trailblazers have been working on some brand new campaigns putting the spotlight on access to motoring and voting. Ambassadors across the UK have been attending regional events in the Midlands, North West and Wales and we have recently put views and suggestions forward at meetings held with tour operators, airlines and train companies.

We are pleased that challenges we raise and suggestions for improvements are being heard by decision-makers, with ideas genuinely considered and actioned.

We have heard from some young people that access is sometimes overlooked during election times, and so we wanted to delve deeper. For our Vote with confidence micro-campaign, which is backed by politicians such as David Blunkett MP and Paul Maynard MP, some Trailblazers went undercover and rated their experiences of using polling stations.

In our investigation into driving, some Trailblazers have been sharing their experiences of learning to drive and getting hold of adapted vehicles. They will also be supporting others through top tips and ideas for improvements.

Our work with Parliamentarians continues and we are looking forward to an event focusing on access to the high street, where we will have the opportunity to discuss our Short-changed investigation.

If you’d like to find out more about the work of the Trailblazers, please get in touch at trailblazers@muscular-dystrophy.org or visit our website.

On the web www.muscular-dystrophy.org/trailblazers

Newborn screening report launched in Parliament At the end of April, the Muscular Dystrophy Campaign launched the All Party Parliamentary Group for Muscular Dystrophy report on newborn screening for Duchenne muscular dystrophy in Parliament.

With coverage in the Sunday Times and on BBC’s Today programme, the report launch followed an inquiry into newborn screening for the condition. The report

took evidence from leading scientists and clinicians in the field of neuromuscular research, as well as families of boys and young men with Duchenne muscular dystrophy, some of whom were parents of children diagnosed through the former newborn screening programme in Wales.

With potential treatments for Duchenne muscular dystrophy in clinical trial, MPs and scientists believe it is vital

current barriers to newborn screening for this condition be addressed now. This would ensure a screening programme were in place before any potential treatments reach the market, so boys who could benefit would be identified in time.

If you’d like more information on the report, do get in touch with Peter Sutton on 020 7803 4838 or p.sutton@muscular-dystrophy.org

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Update on

advocacy The Muscular Dystrophy Campaign’s advocacy service makes a real difference to many people affected by muscle-wasting conditions who have struggled to get the assistance they require to live full and independent lives. In partnership with the prestigious law firm, Hogan Lovells, we have helped people fight for – and get – the services, benefits and equipment they are entitled to.

Winning a bedroom tax appeal Margaret is a manifesting carrier of Duchenne muscular dystrophy, and lives with her husband, Bob, in a two-bedroom house that has been specifically adapted to meet her needs. When the bedroom tax provisions came into force, their landlord deemed they were under-occupying their home and reduced their housing benefit allowance.

Our advocacy team, with the aid of a pro bono legal service, helped the couple appeal the decision successfully on a number of grounds, including the fact that the room had been structurally adapted to accommodate the couple’s particular needs.

Bob said, “I would encourage anyone else in this position to keep fighting for their rights, even when the situation seems hopeless – never give up.”

A case for support group The Department of Work and Pensions (DWP) refused to put Lizzy in the Support Group for Employment Support Allowance (ESA). Lizzy has a type of myopathy, which affects her shoulders, hips and hands, making standing for any length of time extremely difficult and sitting uncomfortable.

Lizzy finds it hard to perform even the simplest of daily tasks, and this affects

her stamina and energy levels. Also as a result of her condition, Lizzy cannot walk for 50 metres within a reasonable timescale, and without the capacity to avoid hazardous situations, she could put her health and that of others at risk. The charity’s advocacy team intervened on Lizzy’s behalf and persuaded the DWP to overturn their decision and allocate her to the support group for ESA.

Caroline Drennan I was diagnosed with myotonic dystrophy in 2002/2003 after my son was born in 2001.

The staff at the hospital noticed he had stiff muscles and, once he’d been diagnosed, I was next on the list.

I wasn’t that badly affected, but I have As the years have worn on, I’ve noticed that in recent years, my health has been badgered by family and friends started to deteriorate. I have not engaged to apply again for DLA. This was the with many medical professionals because best thing I think I’ve ever done in a so little is known about the condition, and long time! I contacted Sarah Williams there are no treatments. I applied a few (the then Neuromuscular Outreach and years ago for Disability Living Allowance Engagement Officer in Northern Ireland (DLA) but was unsuccessful. for the charity), and she showed me

Advocacy Ambassadors The charity has developed a network of Advocacy Ambassadors – peer advocates who support and advise people across the UK. Each of the Ambassadors has a unique understanding of life with a muscle-wasting condition, and they are here to help you navigate life and the challenges you may face.

The Ambassadors have been taking on cases over the last few months and have recently had their first training session on legal issues. Legal firm, Hogan Lovells, who provide pro bono legal advice for the charity’s advocacy service, presented specialised training on Employment Law, Judicial Review and Bedroom Tax, to equip the Advocacy Ambassadors with a firm understanding of these areas so they can pass on their knowledge in their local communities.

Vivek Gohil, a newly-trained Ambassador based in the East Midlands, found the day valuable.

“It was a very positive, uplifting and empowering training day I have come away confident to take on the role and I look forward to delivering help.”

Johnathon Byrne , an Advocacy Ambassador for the East of England, said he decided to volunteer as an Advocacy Ambassador because of his passion for helping other people in need of support.

“There are many young people reaching out for help who need guidance from people who understand what they are going through,” he said.

There are 29 Ambassadors across England, and we will be recruiting for Ambassadors in Wales, Northern Ireland and Scotland later in the year.

If you’d like to contact your local Ambassador, or to find out more about the network, please email ambassadors@ muscular-dystrophy.org

nothing but compassion, support and understanding. She wrote a letter to accompany my DLA application, and I’ve since been awarded DLA. I believe I would have been denied again had it not been for the charity’s support. I am eternally grateful for the support Sarah and the charity showed me.

If you are struggling to get vital adaptations made, or battling to get the benefits, services and equipment to which you’re entitled, do get in touch with our advocacy team on 0800 652 6352 or info@muscular-dystrophy.org Photograph: courtesy of Mansfield Chad

ampaign C y h p o r t s y D r a Muscul

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n w 1 o 0 G k d n a n w o T e g d i The Cambr

Sunday 12 October 2014 Lace up your trainers, don some orange and come and run with us at this year’s Muscular Dystrophy Campaign Town and Gown 10k in Cambridge.

Join us on this multi terrain and scenic 10k run that starts and finishes on Midsummer Common and stretches along the beautiful River Cam, allowing you to embrace the stunning autumnal sights.

Whether you are a serious runner, or a fun runner, help us turn Cambridge orange in this chip-timed race.

When you do so, you’ll be helping the Muscular Dystrophy Campaign fight against muscle-wasting conditions, which affect 70,000 people in the UK. Our work depends on the support of people like you.

Register today: t: 020 7803 4820 e: townandgown10k@muscular-dystrophy.org w: www.townandgown10k.com

Registered Charity No. 205395 and Registered Scottish Charity No. SC039445

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The ideal combi-chair.

The C500 Corpus 3G represents the timeless, classic values of Permobil: unrivalled quality, advanced technology and the very best forms of functionality. Even the smallest detail has been taken into account in the design of this chassis. This is without doubt a very comfortable wheelchair. Its unparalleled strength, good manoeuvrability and ESP (Enhanced Steering Performance) make dealing with obstacles easy. As the C500 makes use of the Corpus 3G seating system, this chair also offers you improved functionality with its adjustable seat dimensions and various powered settings. Thanks to the adaptability of the Corpus 3G seating system an endless variety of sitting and lying positions is possible, by adapting or adjusting the depth, width, height and angle of the different parts of the chair in numerous combinations. The ergonomic seat and the optional powered settings make the Corpus 3G the most popular seating system in the world amongst those who know. To arrange a free, no obligation demonstration of this C500 Corpus 3G or any of the extensive range of Permobil powerchairs, please contact Permobil UK head office using the details below.

Ground Floor • Navigation Business Park • Waters Meeting Road Bolton • BL18SW • Tel 01484 722 888 • Fax 01484 723 013 Email: info@permobil.co.uk • www.permobil.com

www.muscular-dystrophy.org 29

How powerchair football changed my life

by Niamh O’Reilly

I started playing powerchair football in 2011 and at the time I was reluctant to participate in anything disability related.

I had been ‘able-bodied’ and sporty at age 12, but due to an, at the time, unknown cause I gradually lost all my mobility and independence and by the age of 16, I was completely paralysed from the chest down.

Years later I received my still rather inconclusive diagnosis of progressive neurological paralysis and began the struggle of coming to terms with my uncertain future. I became very bitter about the world and refused to take part in anything social, especially if it was disability-related, but my mum insisted on me going along to a taster session for powerchair football. I was reluctant to take part and would only watch to begin with, but the coaches were very encouraging and eventually I gave in and had a go. It wasn’t long before my old sporty, competitive nature started to kick in and I couldn’t help but get involved. Since that day, I haven’t looked back!

Yes, it wasn’t the football I used to play, but yet much to my surprise when I played I received the same thrill, adrenaline kick and sense of physical achievement as I did in the able-bodied game! I soon signed up to my local club and began to train every week. At the start of the next season, my team entered into the WFA National League, Championship Division. This was really exciting and a whole new challenge, especially as I was selected as captain!

I found the whole experience amazing and found being amongst other people my age who also had similar levels of disability as myself really helped with my self-esteem and made me feel ‘normal’ for the first time in years. On the first weekend, a player on another team caught my eye, but I was too shy to speak to him. We exchanged a few glances and smiles and I eventually plucked up the courage to add him on Facebook; we began to chat and hit it off straight away! And the rest as they say ‘is history’. We have now been together for over a year and a half and I can easily say it has been the best year of my life!

We do everything together and probably have a more active social life than anyone of my age that I know.

I realised that through powerchair football not only did I benefit from the joys of physically participating in sport again but during that time I had become far more sociable and had made many new relationships with fellow players. I had also blossomed into a far more sociable and happy character and found myself feeling more confident in both who I am and in my body, something I had never previously felt. I feel I owe this largely to powerchair football and the people I have met through it. I firmly believe they have helped shape the person I am today.

I am now pursuing a career in PR and fundraising through volunteering with the WFA and am hoping to become a Trailblazer for the Muscular Dystrophy Campaign. I am also currently planning to climb Snowdon in a specialist all-terrain powerchair to raise money, along with various other ambitions for the future ... so watch this space!

Powerchair football remains one of the most important elements of my life. It gives me the ability to gain a sense of physical achievement, the ability to use my own body again, to compete and succeed, to go fast and to move freely. It has given me confidence and ambition and has given me the sense of a positive future, full of possibilities and not to mention my perfect man!

You can find out more about powerchair football at www.thewfa.org.uk or you can follow me on Twitter @niamh_thewfa or email me at fundraising@thewfa.org.uk

powerchair football is “aYes ‘disability’ sport but it has given me the ‘ability’ to do so much more!

“

Clubs near you If you live in Northern Ireland and are keen on joining a powerchair football club, come along to the Lightning Powerchair Football Club in Lisburn. We meet most Friday evenings between 7pm and 8.30pm at the Lisburn Leisureplex. Please contact Joe on 0778 4587920 or joeandlorna@ hotmail.com to find out more.

The Belfast Trailblazers Football Club meets at the Valley Leisure Centre in Newton Abbey, County Antrim. Do get in touch with Alan on 07894 614324 or acrooks@irishfa.com to find out more.

On the web www.thewfa.org.uk

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Fundraising families

by Sarah Jenner

Families across South East England have been getting involved in fundraising for the charity’s Duchenne Research Breakthrough Fund since its creation in 2012. It has provided a focus and an inspiration for many who want to support the search for a potential treatment for this condition. Here we meet three families who are helping us to do just that through some incredible and committed fundraising.

M

eet the Hill family, who live in Chalfont St Peter in Buckinghamshire. Louisa and Gary became the first ambassadors for the Duchenne Research Breakthrough Fund when it launched and since then they, along with their family and friends, have raised just over £32,500 for the Fund; a staggering total. They have two sons: Leyton (11) and Archie (8). Archie was diagnosed with Duchenne muscular dystrophy five years ago when he was three years old, and is the inspiration behind the family’s fundraising.

Described by his parents as an inquisitive and caring boy, Archie is a massive Arsenal fan and loves to play in the goal position, or have a kick-about in the garden with his older brother.

The two boys are incredibly close and describe each other as their best friend, with Leyton always looking out for Archie and making sure he is happy and safe.

On a recent holiday, Archie got to swim with dolphins and also completed a challenging abseil adventure with his dad and brother. But he is just as happy on the sofa with the family for a TV night, including his beloved dog Rory.

“Archie loves school and has lots of friends,” says mum Louisa.

“He is also very curious, and is always asking questions. After flying home from our holiday we were lucky enough to be invited to the cockpit to see all the controls and meet the pilots. Archie proceeded to fire questions at them about how the plane worked and what they did – nothing gets past him!”

The period following the diagnosis was difficult for Louisa and Gary but they have found channelling their efforts into fundraising a positive and empowering way to help them deal with the reality of Archie’s condition. As dad Gary says, “What we can do, we do.”

Over the last two years, Louisa and Gary When I see it all come have organised a golf together on the day, and day at Moor Park Golf Club in Buckinghamshire, I know that the money where friends and family raised will be making a real members come together difference to the research to play golf and bid on a into Archie’s condition, it variety of auction prizes that Louisa works hard makes it all worthwhile. to gather during the Louisa

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months preceding the event.

“It’s not easy to organise but I love it, I really do,” says Louisa.

“The memories of being up at 1am laminating gift certificates just fade away!”

The family have huge support from their friends and relatives and in 2013 family friend Matt Fryer helped boost their fundraising through the involvement of his employer, Rabobank. Inspired by his friends’ situation, he nominated the Duchenne Research Breakthrough Fund to receive the proceeds of his workplace’s Christmas fundraising, and the bank also matched a portion of the money raised at the golf day: a total donation of £16,000. Louisa and Gary still can’t quite comprehend it.

“We didn’t know Matt had nominated the Fund to receive any money, so when he telephoned and told me he had some good news, I just couldn’t believe it”, says Louisa. “We are so touched to have such amazing friends and to know that they are there to support us no matter what.”

Plans are now afoot for a joint birthday celebration this summer when Louisa turns 40 and Gary turns 50. Their dedication to funding research into Duchenne muscular dystrophy remains as strong as ever and all guests will be asked to make a donation to the Fund instead of bringing a present.

“Research is going to make a difference and we need to keep pushing forward and maintaining the momentum so that happens as soon as possible,” says Gary. “We do it all for Archie, he is the force that drives us on.”

Down in Balcombe in Sussex, Judy and Bryan Hammans also put huge efforts into fundraising for the Duchenne Research Breakthrough Fund, following years of continued and dedicated support of the charity. They are grandparents to Lewis (15), who has Duchenne muscular dystrophy and is the reason behind their support of the charity. Four years ago, Judy and Bryan set up the Mid Sussex Fundraising Committee and their fundraising continues to go from strength to strength thanks to their personal dedication and the incredible support of their local community.

Every year the Hammans’ house is transformed into a restaurant, serving lunch and providing takeaways to other Balcombe residents, an event that is now a regular fixture in the village calendar. The front reception rooms house a raffle and friends volunteer to help sell Muscular Dystrophy Campaign

www.muscular-dystrophy.org 31

Christmas cards, locally-produced textiles and jewellery, as well as Judy’s beautiful homemade cards. In 2013, the event raised a fantastic £1,000 and saw Bryan prepare enough potato salad to feed over 50 people – something that put him off eating potatoes for some months afterwards!

“We really enjoy our annual fundraising event and the support we get from everyone in the village is just amazing,” says Judy.

“Every year people come along rain or shine to support us – and we really couldn’t do it without them. It’s stressful – but definitely worth it!”

The couple’s fundraising efforts were rewarded at the charity’s 2013 National Conference when they received a Charity Champion Award from Sue Barker, Muscular Dystrophy Campaign President.

But Lewis remains the focus of their efforts and both Judy and Bryan are incredibly proud of his achievements. A keen sportsman, Lewis plays wheelchair football and is now in his sixth year of playing Boccia, a sport in which he excels. Earlier this year, he was selected to play for the England Boccia team and only just missed out on a chance to compete for his country in his first international tournament in Montreal in April. Undeterred, he continues to play both sports and thoroughly enjoys doing so.

“His dream is to play Boccia and represent Team GB in Rio 2016,” says Bryan. “All the family are supporting him with that and who knows what might happen? It certainly would be a dream come true.”

Finally, we travel west to Surrey, and meet the Barnley family from Farnham. Sue and Tom set up the Help4Harry Family Fund at the end of 2013 and since then the fundraising the family and their friends have done for the Duchenne Research Breakthrough Fund has been unstoppable. Sue and Tom have two sons – Jack, aged seven, and Harry, aged five.

Harry was diagnosed with Duchenne muscular dystrophy in June 2013, when he was four years old. The Fund set up in his name demonstrates the family’s determination to support research into his condition.

“Harry’s calf muscles were always a bit bigger than those of his friends and people used to joke that he would end up on the rugby pitch some day. But we noticed that he began to find it difficult to keep up with his friends when running. Several blood tests followed, which led to a muscle biopsy and the news that Harry had Duchenne muscular dystrophy,” says Tom.

“Funding research into Harry’s condition is something that we find very positive and it’s great to have that to focus on,” says Sue. “Whilst it is impossible to forget what the future holds for him, we are determined to concentrate and enjoy the ‘now’, making the most of all the fun and laughter.”

Harry is described by his family as a ‘cheeky chap’ who is always smiling. He is into football and swimming, and is always on hand to wind up his older brother when required! His favourite colour is orange and his grandfather recently sprayed his new bike orange as a special present for Harry’s birthday, to complement his already orange bedroom. Harry and Jack were the official race-starters at the Muscular Dystrophy Campaign Town and Gown 10k in Oxford in May. The Barnley’s fundraising began with an auction of Ducati Moto GP tickets, kindly donated by Tom’s employer, which kick-started the Help4Harry Family Fund with a fantastic winning bid of £1,220.

Since then, family friends have taken on 10k runs, festive fun runs and Army-style assault courses complete with mud and water traps. Three friends also ran the 2014 London Marathon.

The response we have received from our “family and friends following Harry’s diagnosis has just been incredible, and we are constantly amazed at the lengths people will go to show us their support.

“

Tom’s parents held a ‘mince pies and mulled wine event’ before Christmas, ably supported by Harry himself, who helped sell raffle tickets and welcome guests.

“At one point he was walking around with his tin asking everyone for money – he is definitely a good fundraiser,” said Sue. That event raised a further £700, bringing the total for the Help4Harry Family Fund to over £28,000, to date. All this money has gone to the Duchenne Research Breakthrough Fund to push forward the search for a potential treatment.

Setting up a Family Fund is a great way to fundraise for the charity; we take care of all the paperwork, leaving you free to focus on fundraising. If you’d like to find out more, please contact your local Volunteer Fundraising Manager or visit our website.

www.muscular-dystrophy.org

Get involved We have a wide range of fundraising events planned for 2014.

We’d love you to join in! www.muscular-dystrophy.org/events

Marathon relays in Belfast We’d like to say a huge thank you and well done to the 72 supporters who donned their #TeamOrange running vests and ran in the Belfast Marathon in May.

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Among these runners was Team Connolly, a 48-strong group of family and friends set up by Leona and Art Connolly, for their six-year-old son Criostai, who was diagnosed with Duchenne muscular dystrophy in January 2013. The team raised an incredible £5,000 by taking part in the Team Relay Event.

“Since Criostai was diagnosed, we have been absolutely overwhelmed by support from family, friends and our whole local community. When we told people we were signing up for the Belfast Marathon Team Relay Event, we could never have imagined that so many people would come forward to run with us,” said Leona.

Also taking part in the relay were two teams of 10 runners, put together by supporters Carl Toner and David McClean. Three members of David’s team also took on the full marathon.

The Muscular Dystrophy Campaign supports the 2,000 families in Northern Ireland who are affected by muscle-wasting conditions.

If you’d like to join #TeamOrange and take on a fundraising challenge for us, please get in touch with our Volunteer Fundraising team on volunteerfundraising@muscular-dystrophy.org or 0845 872 9058.

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Dinner in Glasgow

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n late May, the charity held its 2014 Question of Support Dinner and Quiz at the Hilton Grosvenor Hotel in Glasgow.

Over 120 people came to the event, which was hosted by Radio DJ Diane ‘Knoxy’ Campbell and helped to raise an incredible £8,000 for the charity. Sporting celebrities, including John Rowbotham, Gordon Smith, Eddie May and Phil Differ, all got involved hosting quiz rounds and handing out raffle prizes. We would like to thank everyone who came along to support the evening, our fantastic volunteers who helped on the night, as well as Mark Mackill, Brian Tolmie and Gary Kernahan who helped establish this annual fun event.

skate

Move a Mile for Muscles Come and Move a Mile for Muscles with us – 23-31 August 2014 Whether it’s a walk, swim, run, hop, skip, jump, wheel, skate, cycle or scoot, you get to choose how you Move a Mile for Muscles.

When you move your mile, we’ll support you every step of the way.

Every mile will move us closer to a potential treatment for muscular dystrophy and related neuromuscular conditions. Call us to let us know how you plan to Move your Mile for Muscles.

To find out more, please get in touch with us on: t: 0845 872 9058 e: volunteerfundraising@muscular-dystrophy.org w: www.muscular-dystrophy.org

cycle

scoot

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Our golf marathon 2014 A huge well done to our fantastic Four Course Classic golfers who took part in our epic golfing challenge on Friday 13 June 2014.

Muscular Dystrophy Campaign Town and Gown 10k in Oxford

They tested their golfing to the limit and took on the gruelling challenge of 72 holes in a single day, teeing off at sunrise and finishing as the sun set. Their mammoth golfing journey covered 15 miles of fairway – and that’s without any trips to the rough - and they

raised over £25k towards our vital work in

fighting muscle-wasting conditions. What a

fantastic achievement – thank you all so much.

If you would like to join in and help us raise even more in 2015, and help us make it the best Four Course Classic event yet, then please do register your interest by getting in touch with Hayley Gill on 020 7803 4824 or golf@muscular-dystrophy.org

Clipboard and pencil: Kharlamova/istock photo. People: illustrations Deborah Waters.

Congratulations to all our Town and Gown 10k participants, who took on the Oxford 10k and Junior Run 3k event on Sunday 11 May 2014.

It was our 33rd such event in Oxford and, as always, runners took to the streets in orange and fancy dress costumes raising awareness and funds for the Muscular Dystrophy Campaign. We are pleased to say that we are now on our way to smashing our £150k target.

Thank you to Virgin Active who got our runners ready to go with an energetic warm-up and to our fantastic race starters, Harry and Jack Barnley, for setting our runners off with a great countdown. We’d also like to say a massive thank you to all our volunteers who marshalled the event.

To view your results and pictures of the event, please visit our website.

Our next Muscular Dystrophy Campaign Town and Gown 10k event takes place when we turn Cambridge orange on Sunday 12 October 2014. It’s a great day out for anyone wishing to take on their first race, or for more experienced runners wanting to run a personal best. If you’d to join us on this beautiful flat and scenic closed-road race that starts and finishes on Midsummer Common and stretches along the River Cam, do visit our website to sign up.

On the web www.townandgown10k.com/results www.townandgown10k.com/cambridge

#TeamOrange in 2014

Coast to Coast Cycle 26 August – 7 September

Registration fee – £149 Sponsorship – £1,050

RideLondon Freecycle 10 August

Free

London to Paris 30 July – 3 August 2-6 September*

Registration fee – £149 Sponsorship – £1,300

RideLondon100 10 August

Registration fee – £45 Sponsorship – £550

Great North Run 7 September

Registration fee – £35 Sponsorship – £300

Pedal for Scotland 7 September

Registration fee – £26 (47 miles) Registration fee – £40 (110 miles)

Sponsorship – £200

Muscular Dystrophy Campai gn Cambridge Town and Gow n 10k 12 October

Registration fee – £20 Sponsorship – £50

Great Birmingham Run Muscular Dystrophy Campai gn 19 October Move a Mile for Muscles Registration fee – £20 23 – 31 August Sponsorship – £200 Lap the Lough 24 August

Registration fee – £30 Sponsorship – £100 If you would like to find

Great South Run 26 October

Registration fee – £250 Sponsorship – £200

out more about any of these events, do get in touch with us on 0845 872 9058 or volunteerfundraising@ muscular-dystrophy.org

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Best of the web

Our community 14,800 LIKES

7,900

FOLLOWERS

31,443 VIEWS

Hi everyone, With your help we’ve been busy turning Facebook, Twitter and Instagram orange; #TeamOrange has been out in force, fundraising through a number of challenges including the London Marathon, the Muscular Dystrophy Campaign Town and Gown 10k in Oxford, the Belfast Marathon and the Edinburgh Marathon festival. As ever, #TeamOrange members have shared their wonderful photos and achievements with us online.

One #TeamOrange member that has really caught my attention recently is Hayley Lloyd who is skydiving to raise funds and awareness following her son’s diagnosis of limb girdle muscular dystrophy. She enlisted the help of Channel 4’s Gogglebox star, George Gilbey, who has been supporting us on Twitter. Read more here www.muscular-dystrophy.org/hayleyandgeorge If you’re thinking about coming along to our National or Scottish Conference this year, take a look at our new video to find out more about the day www.muscular-dystrophy.org/conference2014. We’d love to see you there!

Helen Putnam Online Manager

t: 020 7803 4833 e: h.putnam@muscular-dystrophy.org tw: @TargetMD

Claire Methven @Thepresslady #townandgown10k race starters, n Harry and Jack loved counting dow the runners today – and the waves! @TargetMD

Sarah Williams @aquarioriginal Second leg runners waiting to go from Leona Connollys epic team @MDC_NI@TargetMD #belfastmarathon pic.twitter.com/ jusLdeOLrW

Hello from Target Research In the previous edition of Target Research, we highlighted how genetic inheritance can result in mutations passing from one generation to the next. However, for people to know whether, or how, their condition might be inherited it is necessary to know the mutation and gene causing the condition. In this edition we look into the techniques and tools used by clinicians to make a diagnosis – from muscle biopsies to genetic sequencing.

We also have an article on ataluren (or Translarna as it is now known).

In May, the European Medicines Agency recommended that the drug be given conditional approval to treat approximately ten percent of boys with Duchenne muscular dystrophy.

This could be the first-ever treatment targeting to be available outside of a clinical trial.

As well as this exciting news, we also feature the work we are doing in partnership with other organisations and charities. From the Duchenne Forum, to SMA Reach, to the Chief Scientists Office in Scotland, we work with a number of groups from across Europe to support research into muscular dystrophies and related neuromuscular conditions. In this article we highlight some of the results of this work.

As ever, we also feature the latest research news and clinical trials updates from around the world.

I do hope you enjoy this edition of Target Research.

Neil Bennett Editor, Target Research t: 0207 8034 813 e: research@muscular-dystrophy.org tw: @ResearchMDC

LIVE IT YOUR WAY www.muscular-dystrophy.org 35

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