Target MD 2014 (2 of 4)

magazine

Target MD Issue 2 of 4 2014

Meet #TeamOrange in the office

Fighting for specialist services in Wales

Special feature

Our work in Wales Campaigning news

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Research updates

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Events

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Best of the web

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www.muscular-dystrophy.org 03

Welcome I hope you enjoy this edition with the spotlight moving from Scotland last time to the amazing activities of supporters in Wales who are prominent in the fight to beat muscle-wasting conditions. I hope like me you are impressed when you read about their inspired fundraising, determined campaigning and continuing support for those living with muscle-wasting conditions.

You’ll note the welcome breaking news of the £358,000 that has just been announced in Wales for much-needed specialist equipment for people with neuromuscular conditions.

Thinking about the gaps in care, it is also very encouraging to see improvements to NHS services across the country. Our Muscle Groups are very effective in identifying the gaps and pressing NHS commissioners to take action which has led to the greatly expanded national network of 45 dedicated neuromuscular care advisors and specialist nurses giving vital help and support. Despite the problems we are finding in some areas, I do believe we will secure further improvements in specialist NHS care.

We are also taking action to accelerate the drive to treatments for each condition.

There is encouraging news in that progress in research has led to clinical trials for several conditions getting underway. However, many readers will also be aware of the disappointment regarding the GSK/Prosensa exon skipping trial that was halted last autumn and also some frustration particularly in the US regarding the timing of the FDA’s awaited decision relating to the small-scale exon skipping trial run by Sarepta. Both of these trials involved boys with Duchenne muscular dystrophy, and I have written to the FDA Commissioner, Dr Margaret Hamburg, urging her to avoid unnecessary delay in announcing their decision regarding ‘conditional approval’ for this emerging treatment.

Looking at current trials, we are delighted that a small, first-stage clinical trial of utrophin with 12 boys with Duchenne muscular dystrophy started at the beginning of the year at four clinics in the UK. Subject to the trial findings, there are plans for a larger second-stage study to start later in the year. Also underway is a larger international trial of ataluren for Duchenne muscular dystrophy, with a number of boys in the UK taking part (each boy has a nonsense mutation in the dystrophin gene).

Our long-term support for high-quality research has made a huge difference and has been instrumental in leading to the progress we see today. Two examples are the vital first steps to develop exon skipping technology and our support over many years for the research underpinning the current utrophin study.

We must build on this encouraging progress and we are keen to accelerate the development of new treatments. This underlines the importance of raising funds both for research and for our work to ensure treatments reach patients without any avoidable delays.

Many thanks as ever to our supporters right across the country. We value all that you are doing to help win the fight against muscle-wasting conditions.

Robert Meadowcroft Chief Executive

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Contents Features Our work in Wales 08 The Thomas report 10 Running for office 13 Community online – Val Wintle

News

Regular

22 Campaigning success on early

access to medicines

06 Letters 19 Advocacy updates

22 Yn galw pawb sy’n siarad Cymraeg!

22 Clinical research fellowship

13 The Welsh Neuromuscular

Network vision

22 Consultation on mitochondrial

disease regulations

14 Fundraising in beautiful Aber

23 Secure sharing of NHS medical records

16 Down to ‘The Wire’

23 Hard-working Yorkshire supporters

25 Best of the web 25 Hello from Target Research 27 News from the WFA 30 Events

23 Hospice and respite care in Scotland 28 #TeamOrange in the office 32 Bright orange silver linings

23 Modifier gene found in FSH

muscular dystrophy

On the cover Bethan Jenkins AM

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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 guarenteed, 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

Helo a chroeso i Target MD. Yn y rhifyn hwn byddwn yn rhoi sylw arbennig i’n gwaith yng Nghymru.

(Hello and welcome to Target MD. In this edition, we have a special feature on our work in Wales. Thank you to Lowri Roberts for translating!)

When I travelled to Wales to meet some of our supporters, I noted not only the beauty of the countryside, but also an abundance of community. Each person I met had a connection with others, and there is a wonderful sense of belonging for the 3,000 Welsh families affected by muscle-wasting conditions.

In this edition, you’ll meet a marathonrunning Welsh Assembly member, several dedicated, long-standing supporters, and healthcare professionals. You’ll also read Val’s story of making a new Welsh friend online.

As always, we bring you news of our campaigning, advocacy and fundraising successes across the UK and a round-up from the WFA. Please look at our #TeamOrange calendar, offering you a huge range of activities to get involved in. #TeamOrange is the collective name we’ve given to those who take on fundraising challenge events for the charity and we use the hashtag in our social media communications.

We’re also keen to know what you think of our magazine package. Subscribers will see the survey enclosed in your mailing, otherwise you can do the survey online; follow the links from our website. It shouldn’t take you longer than 15 minutes. We always want to bring you the news and stories you want to read, so please share your thoughts.

Our next Target MD will focus on our work in Northern Ireland, so please send me any story ideas. I’d love to hear from you. Buaswn i wrth fy modd i glywed oddi wrthych chi. Diolch yn fawr.

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 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

Dear Target MD

I read with interest the article in the latest edition of Target MD about wheelchair services (New report calls for urgent improvements to wheelchair services, p24 Issue 1 of 2014). I noted that your report Get moving revealed that people often had to wait for up to six months for their first powerchairs or replacement chairs.

We encountered huge problems getting our son Kevin’s powered wheelchair replaced. Kevin is 31 years old, and has Duchenne muscular dystrophy, cerebral palsy and cardiomyopathy, among other conditions associated with muscular dystrophy.

After a wait of two and a half years for the correct powered wheelchair, we were pleased when it arrived in November 2013, but Kevin was unable to use it because the control settings were not correct for him. We waited until the end of January for the wheelchair services to come and adjust the settings. I have emailed my local MP as I am still awaiting a response from Sussex Community Health about this situation.

Thank you for your letter and the latest copy of Target MD. As I have told you before, my great niece Laura Bizzey, has MD [muscular dystrophy]. She has recently been on her local Suffolk radio talking about some of the problems that people with disabilities have to put up with.

Jeff Waldren, West Sussex

(Read at www.muscular-dystrophy.org/bizzeys about Laura Bizzey’s extraordinary family, in which three generations of Bizzeys have raised more than £32k through their hard work and dedication to the charity over the past seven years. Laura, 17, has minicore myopathy and is an active Trailblazer campaigner, while her mum, Katie, takes on amazing fundraising challenges and has also just become an Advocacy Ambassador for the charity.)

Dear Target MD I just wanted to say thank you for all the work you did on the article and for sending me a few copies of Target MD. A few of my friends and family shared the issue on Facebook and I’ve had a lot of really nice feedback. Only problem is that now there’s no backing out... I really am going to have to swim with sharks... ahhhhh!

Thanks for everything.

Eilean Stewart (Eilean featured in an article ‘Eilean just does it’ p18 and 19, Issue 1 of 4 2014.)

With best wishes.

Yours sincerely Geoffrey Boston

Looking ahead

Here’s how you can get in touch with us

The next edition of Target MD, due out at the end of July 2014, will focus on the charity’s work in Northern Ireland.

We will look at the charity’s services and activities in that country and introduce you to some of the outstanding families we work with there. As always, we’ll also feature our latest news, features and updates that keep our supporters in the spotlight. People with neuromuscular conditions, together with their families and carers, are at the heart of everything we do.

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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Feature

The Thomas report “We won’t give in. We’ll carry on fighting until everyone in Wales affected by neuromuscular conditions has the specialist services they need.”

These are the words of Ray Thomas, stalwart campaigner, fundraiser and devoted father from south west Wales.

“It is a battle. At the end of the day, we have been robbed of services here in Wales. We need a place where people can go twice a year to see a range of specialist health professionals under one roof. This, along with specialist physiotherapy and hydrotherapy services, is something we will fight for. We are grateful that the London office has become involved because of the impetus it has given us in fighting the government here for these services,” he said.

Ray, who lives in Neath with his wife Margaret, first learnt about muscular dystrophy in 1976. One of their sons, Robbie, had been diagnosed at birth with cerebral palsy and when Robbie was 11 and his 18-year-old cousin died from heart complications resulting from muscular dystrophy, Ray and Margaret decided all four of their children needed to be tested. Robbie and younger brother, Leighton, who was nine at the time, were diagnosed with muscular dystrophy. Older brother, Brian (14), was clear and sister, Dawn (13), was found to be a carrier of the gene.

“We investigated the genetics to see what form of muscular dystrophy the boys had: Emery-Dreifuss and limb girdle muscular dystrophy were mooted as possibilities. It was only when Robbie started to lose his sight because the muscles in his eyes were getting weaker that he had a muscle biopsy. The results concluded he had Becker muscular dystrophy.”

Ray immediately went to visit Wynne Harries, the welfare officer of the South West Wales Branch of the Muscular Dystrophy Campaign.

“We had a lot of support from the Branch. Wynne was a wonderful welfare officer who fought for the rights of the families.

The Branch would help with funding towards wheelchairs, and would help with the shortfall in the cost of adaptations.

“As a family, we needed support. The branch was very supportive, and so was the Salvation Army, as they understood what it meant to live with a disability and what we might be going through. They offered respite breaks for Margaret and me; we jumped at the opportunity,” said Ray, who worked night-shifts in the mines so he could be at home during the day with the boys.

It is an interesting part of family life when you are living with someone who has a disability. Parents today need to be very grateful for the people in the past who have done all the fighting, as everyone will benefit in the years to come.

It is that generosity and strength of resolve that has kept Ray fighting for every family in Wales affected by neuromuscular conditions. Sadly he lost both Robbie, in 2004 at age 39, and Leighton in 2010 at age 43, to Becker muscular dystrophy.

“You can’t take the memories away. We will keep going as long as we are able and we hope that in the near future we might get some more families involved with the Branch,” said Ray.

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Ray has been a member of the South West Wales Branch of the charity since 1976, and is currently its Chair. Ray, whose involvement in disability rights also saw him enjoy a spell as a town councillor in his home town of Neath, has remained a vital campaigner for the Muscular Dystrophy Campaign and regularly presents evidence at the Welsh Assembly’s Cross Party Group on Muscular Dystrophy. His name was attached to the 2010 Thomas Report urging the Welsh Assembly Government and NHS Wales to take urgent action to address the significant gaps in the provision of specialist neuromuscular care.

“Newly-diagnosed families rely on the support of care advisors, especially when families have been given very little information about the diagnosis. I have just written to all the AMs (Members of the Welsh Assembly) in Wales regarding extra hours for our care advisors [Wales has just three part-time care advisor posts] as their workload is growing, and we also need a specialist physiotherapist. I have had a few non-committal responses.

“Leighton slept in his wheelchair for 11 years because of a lack of physiotherapy and suitable beds. Sadly, he never got the opportunity to start life-changing physiotherapy sessions or get to sleep in a specially-adapted bed. Margaret and I could have had up to another 10 years with our sons if specialist neuromuscular services were available in Wales,” said Ray.

The South West Wales Branch The South West Wales Branch was founded in 1966 by Wynne Harries and Ellis Treharne, who both had sons with Duchenne muscular dystrophy. They wrote to Swansea’s local newspaper to invite people interested in forming a branch of the Muscular Dystrophy Campaign to a meeting to assess the level of interest.

Two meetings later, the Branch was set up with Gwyneth Lewis – director of well-known Swansea departmental store Lewis Lewis – as its first Chairman.

Theo Davies, Vice Chairman of the Branch and former National Council member, was the Branch’s first appeals officer and remained in that role for 37 years. Theo, who became involved because his brother-in-law had Duchenne muscular dystrophy, received a long service award from the charity in 2013.

“With some help from the MS Society, from university RAG committees who fundraised for charities, and through store

collections and street collections, we raised £800 in the first year.

In the second year, we raised £2,500. Each year, the fundraising total went up and up and we average around £10k to £12k each year,” said Theo.

When Aberystwyth University chose the Muscular Dystrophy Campaign as their charity in the early 1970s, Theo would travel up to the seaside town from his home in Swansea every Sunday evening (about two hours each way) to see what they needed from him and the Branch to meet their fundraising targets. When the RAG committee had raised £10k, the charity’s then President, Lord Attenborough, went to Aberystwyth to receive the cheque.

That same night, the Aberystwyth fundraising team announced they were going to form a Branch (see p14).

“That was a bonus, especially as the Branch is still going today,” said Theo. According to Branch secretary, Janet Neilson, the South West Wales Branch has about 30 members, including people affected by muscular dystrophy and related neuromuscular conditions.

“Our Branch, with current officers including Ray, Theo, Wendy Robbins (treasurer), and myself, must be one of the oldest in the UK. We have raised hundreds of thousands of pounds for research and welfare – it’s a pity we didn’t keep a record of exactly how much we’ve raised since 1966. We used to raise funds through house-to-house collections, raffles, the Swansea Carnival and rattling tins outside supermarkets! Even if only small amounts were raised locally by standing outside supermarkets, every penny we collected counted towards finding a cure for neuromuscular conditions,” she said.

“Today we raise funds through coffee mornings and craft and jewellery sales. The firefighters of Sketty are a great bunch and have held carwashes for us, and we hold our meetings every second month in their community room.

“As a Branch, we have been active in pressing for improvements in neuromuscular services in Wales. We plan to carry on raising funds and raising awareness of neuromuscular conditions until a cure is found; firstly for Duchenne muscular dystrophy, which we all hope and pray will lead to a cure for all neuromuscular conditions,” Janet said.

The South West Wales Branch is one of three branches active in Wales today, along with the Aberystwyth Branch and the Wrexham Branch. If you’d like to find out more about the charity’s work in Wales, please do get in touch with us on 020 7803 4800 or info@muscular-dystrophy.org

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Running for office Bethan Jenkins AM, a Plaid Cymru Member of the National Assembly for Wales since 2007, chairs the Cross Party Group (CPG) on Muscular Dystrophy. Through losing a close childhood friend to muscular dystrophy, Bethan is not only a dedicated campaigner for people affected by muscle-wasting conditions, but also a keen athlete and fundraiser for the charity.

Bethan, who grew up in Merthyr Tydfil and studied international politics at Aberystwyth University, acknowledges the CPG’s biggest challenges lie in getting the recommendations of The Thomas Report and the Welsh Neuromuscular Network (see page 13) report established.

“We’ve identified there are still gaps in care and we need more investment in care advisor posts. With only three part-time care advisors in the country, this is simply not sufficient.

“I have met with the Health Minister and Local Health Boards and, while they are aware of our issues, we now need action. In terms of the Welsh Neuromuscular Network’s recommendations, we are calling for more care advisors and support, specialist physiotherapists, an adult neuromuscular consultant, an increase in clinical psychology support and an equipment budget.”

The Muscular Dystrophy Campaign is supporting the Welsh Neuromuscular Network to ensure the Welsh Assembly Government and Local Health Boards address these priorities as a matter of urgency and deliver the required improvements for people across Wales living with muscle-wasting conditions.

Bethan was introduced to campaigning early on, through her parents, and as president of Aberystwyth students’ union, she took part in youth politics as an extension of her campaigning work. But it was having a family friend, who had muscular dystrophy and sadly died at the age of 10, that introduced Beth to the idea of fundraising and fighting for a cause.

To families going through tests and waiting for a diagnosis, Bethan said she would offer help in whatever way she could.

“It’s important for newly-diagnosed families to know they are not alone. I have links to local groups, and the CPG is there for families, and for those who need medical support or access to services, I would write to relevant health authorities to make sure they are put in touch with the right people,” Bethan said.

That was the approach Bethan took with her childhood friend.

“We used to spend a lot of time together. Helping the family by fundraising was an integral part of my childhood,” Bethan said.

A keen runner, Bethan now uses 10k runs, half-marathons and the forthcoming London Marathon as her fundraising platform.

“I did the Llanelli 10k last year for the Muscular Dystrophy Campaign, and I took part in a fundraising walk in Aberavon [see Target MD Issue 3 of 4 2013, p29].

“I like to use my running and fitness to put to good causes; when I am running and struggling at the end of the race, it gives me more of a motivation to keep going when I know I am running for the charity. There is more of a point to it.”

We’ve identified there are still gaps in care and we need more investment in care advisor posts.

Bethan Jenkins

A neuromuscular care advisor’s view Rachel Salmon, a neuromuscular care advisor for South Wales, is passionate about her work supporting families affected by muscle-wasting conditions.

“Having been involved with newborn screening before I became a neuromuscular care advisor, I felt there was a huge gap in the care we were providing to families who received a diagnosis at that point. In this new role, I’m providing more integrated neuromuscular support, and am trying to give families more psychological support. Bringing families together for support days is so beneficial; when families share support, it really fills a gap.

“There is huge demand, but I keep on going, especially for the young families.

They deserve a good service. I am passionate about that,” Rachel said.

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The Muscular Dystrophy Campaign is supporting the Welsh Neuromuscular Network to ensure that the Welsh Assembly Government and Local Health Boards address these priorities as a matter of urgency.

A clinician’s perspective Dr Mark Rogers is a Clinical Geneticist and Honorary Senior Research Fellow at the Department of Medical Genetics at Cardiff’s University Hospital of Wales.

After studying medicine at St Thomas Hospital in London, he trained in general practice in Aberystwyth, before working as a GP in Oxford, where he became interested in clinical genetics and first worked with muscular dystrophy families. He moved to Cardiff in 1995 on a Muscular Dystrophy Group-funded two-year research fellowship into facioscapulohumeral muscular dystrophy (FSH). He worked closely with Peter Harper* and developed an interest in and expertise on myotonic dystrophy, as well as FSH. “I see many people with myotonic dystrophy and have discovered that if you know about the different issues affecting someone with myotonic dystrophy, you can recognise most problems faced by people with any other form of muscular dystrophy,” Mark said.

As a clinical geneticist, Mark spends about half his time on cancer genetics and half on muscle work, working equally between genetic and management aspects of neuromuscular conditions.

After giving evidence in support of The Thomas Report in 2010, and being a regular participant at the Cross Party Group on Muscular Dystrophy in the Welsh Assembly, Mark is keen for the establishment of a single-focus multi-disciplinary service in Cardiff for families in south Wales.

“We need to have an effective and efficient clinic, where patients can not only see a consultant, a specialist nurse, a specialist neuro-physiotherapist and a psychologist, but they can also receive cardio and respiratory care, and see an occupational therapist.

Such a service would not only benefit families across the region, but would make it easier for care advisors – who are spread thinly attending appointments at different venues – to attend one clinic,” he said.

The Muscular Dystrophy Campaign is supporting the Welsh Neuromuscular Network to ensure that the Welsh Assembly Government and Local Health Boards address these priorities as a matter of urgency and deliver the required improvements for people living with muscle-wasting conditions across Wales. We are calling on families to write to their local Health Boards to ensure these priorities are being looked at. If you’d like to find out how to do that, or need further information to do so, please do get in touch with Jonathan Kingsley on 020 7803 4839 or campaigns@muscular-dystrophy.org *Sir Peter S. Harper CBE was until 2004 the Professor of Medical Genetics at the University of Wales College of Medicine in Cardiff.

His work has focused on researching neurogenetics and has resulted in important discoveries concerning muscular dystrophies and Huntington’s disease. He was knighted in 2004 for services to medicine.

Myotonic dystrophy People with myotonic dystrophy experience progressive muscle weakness and wastage and, while the types of condition differ greatly, the rate of deterioration is commonly slow, with little change over a long period. Some people never have significant muscle disability and age of onset is variable – symptoms may appear at any time from birth to old age. The charity provides advice and support for people living with myotonic dystrophy, and for health professionals, and we lead the search for treatments and cures.

Do get in touch with us for the latest information about myotonic dystrophy and helpful resources.

Breaking news The Minister for Health and Social Services in Wales has approved the allocation of £358,000 for the procurement of specialist equipment for people in Wales affected by neuromuscular conditions.

The funding will be used by the Welsh Neuromuscular Network, hosted by Aneurin Bevan Health Board, for equipment including cough assists, specialist chairs, sleep assist systems and mobile hoists.

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Community online

Val Wintle It can be lonely and isolating having a medical condition, especially one that is rare and nobody has heard of, such as muscular dystrophy. It is no wonder that living with muscular dystrophy can be hard. I have mitochondrial myopathy and every day is a struggle – particularly the loss of independence – and I’m sure I’m not alone in this.

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rom what I have read and heard there are a lot of adults affected by muscular dystrophy who feel isolated and lonely for one reason or another. That is where the peer-to-peer support system and TalkMD (the charity’s online forum) is a lifeline for some people. It is a shame that we are all dotted around the country.

The people on the TalkMD forum all have different forms of muscular dystrophy and no two people experience it in the same way. So I was pleasantly surprised, a couple of years ago, to read a post from someone who had exactly the same condition as I have. We swapped phone numbers and have been chatting every few weeks since then; once we get chatting there’s no stopping us! We share ups and downs about our condition and put the world to rights generally. But most importantly we understand each other.

My friend’s name is Linda [pictured left with Val] and she lives near Cardiff. We are both in our 50s and get on very well. After chatting for a few months, we thought it would be nice to meet each other, but distance was a problem. The opportunity arose when Linda told me that she was coming on holiday to Weymouth, a 40-minute drive from where I live. We were both excited we were finally going to meet.

The people on the TalkMD I can no longer drive because of poor eyesight, so my husband Mark drove me to Weymouth. forum all have different forms It was so nice to finally meet Linda, who was of muscular dystrophy and there with her daughter and two grandsons. no two people experience We got on really well and I so enjoyed chatting to somebody who knew exactly what I meant it in the same way. when I talked about my condition, and vice versa.

We planned a visit to Hay-on-Wye and incorporated a visit to Linda, which was lovely as Linda was so welcoming. We spent about three hours with her.

We are still in regular contact by phone and email and would love to get together again. I feel another trip to Wales coming on! We have the TalkMD online forum to Mitochondrial myopathy thank for getting us together and we are Mitochondrial myopathy is a collective very grateful. term for a group of diseases that particularly If you’d like to chat to someone else with affect muscle, but which may also affect a similar condition to yours, then do visit every other part of the body including TalkMD, our online forum where you can the brain and the eye. Mitochondrial share concerns and encouragement, or just myopathies affect people in different chat with people who understand what it’s ways. The most common problem is a like to live with a neuromuscular condition. combination of mild weakness of the Follow the ‘online forum’ link at the top arms and legs together with droopy of our website’s homepage to register and eyelids and difficulty in moving the eyes. get talking.

n Val and Linda’s condition

The Welsh Neuromuscular Network vision In 2012, the Wales Muscular Dystrophy Network Team launched its vision for neuromuscular service provision in Wales at a meeting of the Cross Party Group on Muscular Dystrophy in the Welsh Assembly.

Dr Andrew Goodall, lead Health Board Chief Executive for neuromuscular service development in Wales, and Dr Gareth Llewellyn, consultant neurologist, presented the Welsh Neuromuscular Network Vision document to the Cross Party Group and invited supporters to share their feedback on the document and to make suggestions for additions to the network’s plans.

The document mapped out service provision and listed the concerns regarding neuromuscular service provision, and recommended future developments including: n

developing care advisor roles

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appointment of specialist adult neuromuscular physiotherapists

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recognising the neuromuscular work by specialist clinicians in their job plans provision of health psychology, which is critical in the management of patients with neuromuscular conditions.

In early February, members of the Welsh Assembly’s Petitions Committee, including Bethan Jenkins AM, challenged the Welsh Assembly Government’s Health Minister and Local Health Boards for their response to these proposed investments in specialised neuromuscular services in Wales. This followed an earlier committee meeting to consider the Welsh Neuromuscular Network’s recommendations, which were included in a Muscular Dystrophy Campaign petition entitled ‘Improving specialised neuromuscular services in Wales’, identifying the five key priorities to develop services.

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Feature

Fundraising in beautiful Aber The Aberystwyth Branch of the Muscular Dystrophy Campaign lives and breathes community. In addition to a stream of customers, regular visitors pop in every day to the charity shop in the centre of town to say hello, offer the volunteers a cup of coffee and bring new stock for the shop to sell. That, along with the Branch’s other community-based fundraising efforts, brings the charity a cool £10k every year.

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nn and Rhae Hughes founded the Branch in June 1975, when the charity’s then President, Lord Attenborough, came into town with then CEO, Paul Walker, to receive a cheque for £10k that the Aberystwyth University’s RAG Committee had raised for the South West Wales Branch (see p9). In thanking the students, Lord Attenborough said how good it would be to see a local fundraising branch established in the seaside town. A group that had been meeting informally for a few months decided that night to form a branch. The rest, as they say, is history.

Ann and Rhae had good reason to get involved in fundraising for the charity. Their four children – Colin, twins Alan and Ian, and daughter Lyn had all been diagnosed with muscle-wasting conditions. A trained nurse, Ann knew from the time each of her children was five months old, that something wasn’t right.

Determined not to be talked out of her concern by local health professionals, she took her children down to London where she eventually saw Professor Dubowitz at the Hammersmith Hospital, and her children were all given a positive diagnosis of limb girdle muscular dystrophy.

“I was relieved that we had a diagnosis and we could get on with our lives. Our children were all gifts from God, and we were determined to give them all as normal an upbringing as possible.

We lived in a small village where there was a big group of children, and they all played and went out together. They would carry our children with them wherever they went – sometimes putting the boys into a wheelbarrow if need be!”

It wasn’t just for firm diagnoses for her children that Ann would fight. She and eldest son, Colin, sat in the offices of the local education department and refused to leave until Colin was offered a place in a local secondary school. That was another battle they won, and all of Ann and Rhae’s children went to a local secondary

school rather than being sent elsewhere to special needs schools.

Colin, now 49, lives independently in London, and twins Alan and Ian (48) live in Llanelli. Sadly Ann and Rhae’s daughter, Lyn, died when she was 30.

Generous with people and time, the town of Aberystwyth has brought a small group of volunteers together who give their time to support the Branch. Apart from Ann and Rhae, and Peter and Ceidwen Williams in Cardigan who hold an annual BBQ and a huge raffle for the charity, none of the other current team of volunteers has any personal connection with muscular dystrophy or related neuromuscular conditions.

Caroline, Sue, Vera, Maureen, Sandra, Jane and Ann have all been involved for between 18 months and 39 years in fundraising for the Muscular Dystrophy Campaign. Caroline and Ann recall the early days of Rupert the Bear fundraising days in the town, carol-singing, building a mile of pennies along the seafront, organising dances in the Marine Hotel, jumble sales, cake sales, street collections, national inter-pub competitions and coffee mornings.

Today, the main fundraising comes from the charity shop, which attracts a good level of stock as well as ‘rag and waste’ which is sold on to local merchants.

While I met with this group, Ann read the group a letter from a local family, thanking the Branch for their annual gift at Christmas.

She also read an appeal from the same family fundraising for a specialist powered wheelchair for their son; the group agreed to support the family with a donation towards the overall cost.

The hard work of a handful of dedicated, long-standing supporters of the charity not only helps local families in amazing ways, but also helps the charity considerably. With their funds each year, we are able to fund two months of groundbreaking research into muscle-wasting conditions. The miles of pennies continue to grow and make a significant difference.

www.muscular-dystrophy.org 15

People call us ‘a real charity shop’ because our shop is small, we have very low overheads and we only have volunteers working in the shop.

And because we’re a small, tight-knit community, volunteers tend to stay involved for a long time.

SimplyCreativePhotography/istock photo

Caroline

16

Feature

It was amazing! I was doing it for the charity, so although I’m afraid of heights, I put that fear aside. It’s the best thing I have ever done – I was nervous but I absolutely loved it!

Anola

www.muscular-dystrophy.org 17

Down to ‘ The Wire’ Since the Hiles family came into contact with the charity just over three years ago, they have become solid supporters of the charity.

Not only do they campaign as patient representatives on the Welsh Neuromuscular Network, but they also do some serious fundraising.

A

nola skydived in the first Make Today Count weekend in 2012 and in April this year, she and Stephen cajoled 50 people – including supporters from across South Wales – to speed down ‘The Wire’ (zipwire) at the National Diving and Activity Centre in Chepstow, all in the name of the charity.

Steve and Anola live in Hengoed in South Wales, with their son Chris (27). Daughter Lisa (30) lives nearby and is Anola’s carer. Chris was diagnosed with central core myopathy when he was 15 and Anola was diagnosed with the same condition six years ago.

In his early teens, Chris was diagnosed with scoliosis and at 15 underwent major surgery. Steve’s mention of his own hyperpyrexia alerted the anaesthetist to request a muscle biopsy during surgery. With 198 stitches and pins in his back, Chris went home after surgery and a few weeks later, Steve and Anola were invited to meet with a paediatric neurologist.

“We walked into a panel of seven people who told us Chris had muscular dystrophy. We were heartbroken. We knew nothing of what the condition meant, and we received no support from the group sitting in front of us. Nothing! We were just told we needed to arrange adaptations for our house,” said Anola.

They found some information on the Internet, and were eventually referred to genetic specialist, Dr Jane Fenton-May. “I told Jane our story, and the assumption was made that the condition came through my family,” Steve said.

Anola had struggled with fatigue and weakness in her legs and hips but had always been told it was arthritis, or her age. Jane arranged for both Steve and Anola to have DNA testing, following the breakthrough discovery of the rogue gene that causes central core myopathy. The results showed it was in fact Anola who carried the gene, and not Steve.

After taking Chris to an appointment with Jane in late 2008, Jane walked out of her consulting room and down the corridor behind Anola. She noticed something in Anola’s gait, and suggested Anola see a physiotherapist, which she did straight away. The physiotherapist arranged for Anola to see Dr Allam at St Woolos Hospital in Newport, who diagnosed her with the same condition as Chris.

Dr Allam’s experience of treating patients with hyper-dominant muscular issues has kept Anola semi-ambulant and only recently has she needed to use a wheelchair when she goes out and about.

“I felt guilty that I gave the condition to Chris. I immediately worried about the future, and I felt redundant. I felt my role as a mother/carer had gone, and I felt useless, a burden. I felt devastated for the children and those around me,” Anola said.

Anola struggled to feel positive and, unlike Chris who wanted to carry on with his life without any outside help, Anola really needed support.

When Rachel Salmon (see p10) took on the part-time post of care advisor for south Wales in 2011, she wrote to families in the region. She wrote to Chris to invite him to a meeting; Chris declined the invitation, but Anola jumped at the opportunity.

“Rachel was fantastic. She came in and talked to us individually.

Talking to someone who actually understood straight away what we were going through put us at ease. With that kind of support, we can do anything,” Anola said.

“Rachel taught me – and I would say this to any adult going through a diagnosis like mine – that you have to voice your fear.

Make use of the support available to you, go to the family group meetings, don’t be afraid to grieve for what you have lost or what you perceive you’ve lost. With support, you can move forward.

“If Rachel had not come into our lives when she did, I don’t know if I would be here today,” said Anola.

Through Rachel, they learnt about the charity and its support services for families like theirs. They joined the Cross Party Group for Muscular Dystrophy and soon heard about the forthcoming Make Today Count fundraising campaign. Their interest was piqued and Anola jumped at the opportunity to skydive.

“It was amazing! I was doing it for the charity, so although I’m afraid of heights, I put that fear aside. It’s the best thing I have ever done – I was nervous but I absolutely loved it!” said Anola, who raised around £1k for the charity.

“I’d do it again, but I’ve promised my mum not to put her through that worry again!”

“Our fundraising is our way of giving back for all the support we’ve received,” said Steve.

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

n Anola’s and Chris’ condition

Central core myopathy Central core disease falls under the category of congenital myopathies, characterised by muscle weakness and wasting.

Central core disease is a rare condition and symptoms usually become apparent at birth or early infancy, although cases have been reported where symptoms are present in the foetus. The condition is generally non- or slowly progressive and people affected usually have a normal life span. It is closely associated with malignant hyperthermia, a serious acute reaction to general anaesthetics which is potentially fatal. It is triggered by muscle relaxants and inhaled anaesthetics.

Read more at www.muscular-dystrophy.org/centralcoredisease

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

www.muscular-dystrophy.org 19

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.

Advocacy Ambassador network goes live The Muscular Dystrophy Campaign is thrilled to announce the launch of our brand new Advocacy Ambassador network, which enables us to support more families affected by muscle-wasting conditions. After an overwhelming response, we have now recruited more than 20 Advocacy Ambassadors across England.

A

t the beginning of February, the new network of Advocacy Ambassadors came together in Birmingham for a full day of advocacy training. From all across the country, and of all ages and backgrounds, the team came to the workshop and learned about a range of challenges facing people with muscle-wasting conditions. Some of the key challenges we have identified include the move to Personal Independence Payments (PIP), care packages, employment issues and statementing in schools.

Participants also had the opportunity to work through a number of case studies, discussing the most effective ways to support each individual case. The session was led by our own advocacy team, ably supported by Jane O’Connor, one of the West Midlands care advisors, who has vast experience of supporting families in the region.

Feedback on the day was very positive, with Ambassadors commenting on the usefulness of each session and the chance they had to share knowledge and experiences.

“Thank you so much for the training day. It was extremely informative and was really great to meet all the other Ambassadors. I think this role will be so useful to a lot of people and will give me a great level of achievement, as I can put my knowledge to good use helping all the other parent/carers and patients.”

Tracey Franklin, mother of Jack who has Duchenne muscular dystrophy, lives in Yorkshire “I attended the Milton Keynes Muscle Group meeting yesterday and did my little introduction to the group. Luckily another Advocacy Ambassador was also there, which made it a little easier. After the meeting several people who also have FSH approached me to explain their happiness in hearing about this role and how they wished they had had someone to speak to over the years … it shows that people are desperate for support from people who have lived through it!!”

Paul Morgan, a Trailblazer who has FSH, lives in the South East of England

Advocacy update Between December and the end of February, the advocacy team received 87 requests for assistance through care advisors, our information inbox, Muscle Groups, clinic visits and our Freephone line., with 61 of these requests leading to actual cases being taken on. We have closed 10 cases and referred nine more cases to our pro bono legal firm, Hogan Lovells.

We took on 177 advocacy cases in 2013 – 70 more cases than the year before. This means that we increased our advocacy caseload by two thirds last year, and the number is still increasing. We also managed to secure nearly £600,000 for provision of vital equipment and services.

In the last year and the start of 2014, we have taken on 10 cases in Wales. Four of these cases were closed successfully last year and one has been referred to Hogan Lovells.

Our Advocacy Ambassadors network is being generously supported by the Big Lottery Fund’s Reaching Communities Programme. The project is designed to train people affected by muscle-wasting conditions to help their peers fight for the right support and to challenge unfair and potentially harmful decisions.

This forms a major part of our current advocacy service, helping to build capacity and allowing us to reach many more people who are struggling to access the support they so urgently need.

The Advocacy Ambassadors are here to support you and you will have the chance to meet and find out how you can link up with your local ambassador at forthcoming Muscle Group meetings in your area. (See p31.)

If you’d like to join us as an Advocacy Ambassador, we’re looking for people particularly from the North East and the North West who would like to be #heretohelp. If you’d like to find out more or get in touch with your local Advocacy Ambassador, please get in touch with us at ambassadors@muscular-dystrophy.org

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

Campaign y h p o r t s y D r a l Muscu

n w 1 o 0 G k d n a n w o T e The Cambridg

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 over 1,000 runners on this 10k run that will take you through the closed streets of Cambridge city centre, passing historic sites and taking in the beauty of Cambridge’s green spaces and the River Cam. 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

Target MD and Target Research

Now more than ever, we rely on every penny of your donations to fund vital research and provide support and care for people with muscular dystrophy and related neuromuscular conditions. With this in mind, we‘re inviting you to subscribe to Target MD and Target Research – both to be delivered to you four times a year.

That’s right! You will receive Target MD four times a year along with Target Research.

And all for an annual subscription gift of just £18. This will help us cover our costs – even reduce them – while ensuring the same editorial quality you’d expect from every issue of Target MD and Target Research. And because they now only go to people like you who really want to read them, and they’re both now produced fully in-house, the Muscular Dystrophy Campaign can free up more funds to spend on further research, campaigning, support and equipment grants.

If you’d like to subscribe to the magazines, please post your details, together with a cheque for £18 made payable to ‘Muscular Dystrophy Campaign’ to Freepost Plus RTEE-SUBA-KXZT Muscular Dystrophy Campaign at 61a Great Suffolk Street, LONDON SE1 0BU: I wish to subscribe to Target MD and Target Research for one year, at a cost of £18.

I wish to make a donation of £

Gift Aid Declaration Using Gift Aid means that for every pound you give, we are able to reclaim back from HM Revenue and Customs the tax paid on it – helping your donation to go further.

Please tick the box below: Yes, I would like the Muscular Dystrophy Campaign to treat all gifts I have made in the past four years, today’s gift and all future gifts from the date of this declaration as Gift Aid donations.

No, please do not claim Gift Aid on my donations.

Please tick here if you do not want to receive occasional news, updates and other ways you can help by email, post or phone. We will never pass on your details to third parties, and you can unsubscribe at any time: www.muscular-dystrophy.org/contact

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Target MD Issue 2 of 2014 Registered Charity No. 205395 and Registered Scottish Charity No. SC039445

22

www.muscular-dystrophy.org

News Here we bring you news and information, from all around the UK, of our work in leading the fight against muscular dystrophy and related neuromuscular conditions.

Campaigning success on early access to medicines The Government announced in March that an Early Access to Medicines scheme was to be brought forward. This followed a year of campaigning by the Muscular Dystrophy Campaign, with the support of families.

The All Party Parliamentary Group (APPG) for Muscular Dystrophy began an inquiry into Access to high-cost drugs for rare diseases in February 2013, exploring the challenges and barriers preventing access to potential future treatments for muscular dystrophy and other rare conditions.

The report was launched in Parliament in September 2013, and revealed that while potential treatments were finally in clinical trials, parents feared the ‘race against time’ for their children to be treated may have been lost owing to unnecessary delays, funding issues and bureaucracy. At the report launch, these recommendations received the backing of Parliamentarians, including the Health Minister, Normal Lamb MP and the Deputy Prime Minister, Rt Hon Nick Clegg MP. Our campaigners – families affected by muscle-wasting conditions – received high profile coverage in the national media on the need to speed up access to treatments.

This raised the profile of the issue and left us in a strong position to move forward the campaign for early access to medicines. We now look forward to working with the Government to ensure patients affected by these conditions do not lose out should treatments reach the market.

If you’d like to find out more about our campaigning work, do get in touch with us on 020 7803 4838 or p.sutton@muscular-dystrophy.org

Yn galw pawb sy’n siarad Cymraeg!

Os yw nychdod cyhyrol, neu gyflwr niwrogyhyrol cysylltiedig, yn effeithio arnoch chi’n uniongyrchol neu’n anuniongyrchol, ac os byddai gennych chi ddiddordeb mewn cefnogi ein gwaith â’r cyfryngau, buasem wrth ein bodd i glywed oddi wrthych chi.

Cysylltwch ag Emma Warren yn ein swyddfa wasg ar e.warren@muscular-dystrophy.org neu 020 7803 4844. Diolch yn fawr.

Calling all Welsh speakers! If you are affected directly or indirectly by muscular dystrophy or a related neuromuscular condition and would be interested in supporting our media work, we’d love to hear from you. Please get in touch with Emma Warren in our press office on e.warren@muscular-dystrophy.org or 020 7803 4844. Thank you.

Clinical research fellowship Together with the Chief Scientist Office (CSO) in Scotland and Action Duchenne, we are pleased to announce that a call for a Clinical Research Fellowship in Duchenne muscular dystrophy is now open for applications. This initiative, funded in equal measure by the three organisations, is designed to increase research capacity into this devastating muscle-wasting condition in Scotland. The three-year fellowship, which covers the salary cost of the fellow and up to £10,000 per annum of research costs, is open to individuals currently training in medicine, and in the speciality phase of their training.

The deadline for applications is Monday 30 June 2014. Do visit the research section of our website to find out more.

Consultation on mitochondrial disease regulations The Department of Health in late February launched a consultation on the regulations for mitochondrial disease.

The Government wants to find out what the UK public thinks of the proposed new regulations – to allow innovative IVF techniques to prevent mitochondrial disease to be used in humans.

The techniques, the early development of which was funded by the charity, are being developed by scientists at Newcastle University and will only be used once they are shown to be sufficiently safe and effective. In March 2013 the results of a Human Fertilisation and Embryology Authority public consultation found that people in the UK were broadly in support of the further development of this procedure.

The consultation gives people affected by the disease an opportunity to express their views on the regulations. The more people who respond, the more representative the Government’s final report will be, and the Muscular Dystrophy Campaign is encouraging people to respond.

Why should I respond? n

n

n

n

n

n

Your view is important and unique – it will be helpful for the Government to hear it.

The Government will listen – they are consulting as they want to hear what people think.

Personal experiences and examples are important for understanding mitochondrial disease.

You can influence what the final consultation report will say and what decision the Government will make.

If lots of responses make a particular point in support of or against the regulations, it may sway the Government’s decision.

People who believe these techniques should not be allowed at all will respond to the consultation, possibly as part of an organised campaign. It is therefore important that you have your say.

The consultation is open until Wednesday 21 May 2014. You can respond quickly and easily online at www.muscular-dystrophy. org/mitochondrial

www.muscular-dystrophy.org 23

Secure sharing of NHS medical records The Muscular Dystrophy Campaign added its voice to those of more than 70 medical research charities to support the Patients4Data campaign.

The Patients4Data campaign, which is focused around the Patient Data Bill in Parliament put forward by George Freeman MP, stresses the principle of patients owning their own data and the benefits, which would include contributing to acceleration of access to potential new medicines. With their consent, patients’ data would be safeguarded on a strictly anonymous basis so medical researchers could learn more about the impact and progression of each condition (although not know anything about a particular patient) to help develop new treatments.

In the light of concerns about security of NHS medical records, which the charity acknowledges, the Muscular Dystrophy Campaign’s Chief Executive, Robert Meadowcroft said the plan to share medical records on a confidential basis would bring significant benefits to research, innovation and clinical trials.

“The campaign’s objectives echo the underlying principle of the All Party Parliamentary Group for Muscular Dystrophy’s recent report, Access to high-cost drugs for rare diseases, supporting the ‘bench to bedside’ approach to take place in an optimum, swift and streamlined way. We recognise the need for the tightest security in sharing medical records and concerns regarding data security should be addressed; however, they should not delay potential developments in medical research which could result in children and adults with muscle-wasting conditions gaining earlier access to treatments.”

Hard-working Yorkshire supporters Neuromuscular champion, Tracey Franklin, whose son Jack has Duchenne muscular dystrophy, was shortlisted for the ‘Participant of the Year’ award in the NHS England’s Participation Awards 2014.

We had nominated Tracey, from Brough near Hull, for the award as a result of her dedicated support for local families and health professionals, as well as her continued commitment to improving local services through our Yorkshire and Humberside Muscle Group and our Bridging the Gap project – the Neuromuscular Forum.

Yorkshire and Humberside Muscle Group chairman and regional Neuromuscular Forum champion, Brian Deehan, has also been fighting for better services in his area.

Brian, from Bainton in North Humberside, whose son has Becker muscular dystrophy, is a long-time campaigner for improvements to the quality of specialist support available to families in the region.

Thanks to Brian’s and Tracey’s hard work, we recently heard that a new neuromuscular specialist physiotherapist is being recruited in West Yorkshire and we hope to see similar appointments in South Yorkshire soon.

The charity’s Neuromuscular Outreach Manager, Bobby Ancil, said, “Tracey and Brian are brilliant ambassadors for families affected by neuromuscular conditions in Yorkshire and Humberside. They are always there to support and lead campaigns to ensure that people in their area are not missing out on the best services. Tracey has also recently become an Advocacy Ambassador and will no doubt prove to be a fantastic source of information and support for families in the region.”

If you’d like to find out more about the Neuromuscular Forums and the Yorkshire and Humberside Muscle Group, do get in touch with Bobby at b.ancil@muscular-dystrophy.org

Hospice and respite care in Scotland If you live in Scotland and are affected by muscular dystrophy or a related neuromuscular condition, we’d like to hear your views on hospice and respite care.

This follows the decision of the Children’s Hospice Association Scotland (CHAS) to withdraw its services for young disabled adults. CHAS was forced to make this difficult decision owing to the increased demand they were experiencing from children who needed their support.

We are concerned however that this risks leaving young disabled adults in Scotland with no suitable hospice and respite facilities, increasing the burden on these individuals and their families, who often act as primary carers. It is vital that alternative provision is found before CHAS’ new upper age limit comes into effect.

The charity is currently working with the Cross Party Group on Muscular Dystrophy in the Scottish Parliament, CHAS and patient organisations to try and find a solution.

Following Robert Watson’s petition to the Scottish Parliament in November, there will now be a parliamentary debate on the issue and we need as much evidence as possible to convince the Government, local authorities and Health Boards of the importance of developing these services for young disabled adults and their families.

Please do visit our website to complete the survey or get in touch with us on 020 7803 4839 or campaigns@muscular-dystrophy.org if you have any queries.

Modifier gene found in FSH muscular dystrophy A team of researchers last year identified mutations in a gene called SMCHD1 that can cause facioscapulohumeral muscular dystrophy (FSH) type 2 – a rare form of the condition that affects about five percent of people with FSH. Researchers have now discovered that the same gene may affect the severity of FSH type 1 – the most common form of the condition caused by a deletion on chromosome 4 in the

DNA. This deletion allows muscle cells to produce a protein – (DUX4) not normally made in adult muscle-cells. DUX4 is a transcription factor – a molecular switch – which can turn other genes on and off, eventually leading to the death of muscle cells. Although scientists believe the size of the deletion on chromosome 4 is linked to the severity of the condition, variation in disease severity is seen in people with

similar deletions. This suggests other factors may play a role and researchers have shown that SMCHD1 can play a role as a modifier gene.

This discovery may help families understand the risk of passing the condition on to their children, and have a better idea of how the disease might progress so they can plan for the future and gain access to appropriate care.

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Hi everyone, I hope you’re enjoying this edition of Target MD, and our work in Wales. I love Val’s story about how she met her new friend Linda through TalkMD, our online forum (see page 13). It’s fantastic that people are able to meet new friends online, share experiences and offer and receive support, in a safe environment.

I would like to thank the fantastic volunteers who moderate the forum and who work so hard to maintain the welcoming and supportive atmosphere they’ve created. Anne-Marie, Vicki, Sarah and Jenna – thank you for your continued hard work and dedication.

If you’ve not joined our forum, simply visit www.muscular-dystrophy.org/talkmd and join in the conversation. You are all welcome.

On a personal note, I am busy training and fundraising for this year’s London Marathon.

I love being part of #TeamOrange and I can’t wait to don some orange and get over that finish line! You can follow my progress on Twitter @Putters84.

Helen Putnam Online Manager

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

Hello from Target Research I’m sure Ruth will have mentioned this, but I’d also like to draw your attention to the survey you will have received with your magazines. We’d like our communications to give you the information you want in the way you want it. If you could take a few minutes to complete the survey to give us feedback on both Target MD and Target Research, it’ll be a great help for us to improve what we do.

In this issue of Target Research we take a closer look at genetics and inheritance. Most of the conditions we cover are genetic, and this article aims to explain how inheritance works within families and how genes and mutations are passed from parents to children.

We also have a report from the recent Translation Research Conference held in London. The event attracts scientists from around the world who present talks and posters. This is a great chance for us to catch up on the latest research and talk to the researchers themselves, so do enjoy reading our highlights of the conference.

And, as always, we have the latest research and clinical trial news 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

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www.muscular-dystrophy.org 27

New leagues and fair play It’s been an extremely busy few months for Powerchair Football! After the success of our very first Powerchair Football week last November, competition has been taking place up and down the country.

Shirt: wragg/istock photo

This season has seen an introduction of new regional leagues in England, with leagues joining us in the South East and North East, adding to the already established East Midlands and North West Leagues. These new forms of competition will enable new clubs and existing clubs not competing in the national league the opportunity to play regular fixtures against their regional counterparts.

The Wheelchair Football Association has also formed a partnership with ‘Project Fair Play’.

This year the organisation will collect football kits where they will be taken directly to disadvantaged youngsters living in Brazil’s favelas (slums), where they will be worn with pride as they watch this year’s World Cup. ‘Project Fair Play’ also supports a British project during each World Cup year – the Wheelchair Football Association is that beneficiary.

Shirts not sent to Brazil will be recycled for cash, funding the continued development of Powerchair Football in England. If you have a spare football shirt to donate please visit www.projectfairplay.org.uk for more information.

The WFA National League also resumes shortly, Northern Thunder PFC has a six-point lead over second-placed Aspire PFC in the Premiership. It is a tighter affair in the Championship league however as Evergreen PFC has just a two-point lead over Nottingham Forest PFC, with Manchester PFC one point further behind in third.

You can follow our various updates via twitter by following @the_wfa.

On the web w: www.thewfa.org.uk tw: @the_wfa

If you have a spare football shirt to donate please visit www.projectfairplay.org.uk for more information.

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www.muscular-dystrophy.org

Maybe some time in the future I’ll be open to taking on something major.

But I’m not running a marathon! said Marita.

#TeamOrange in the off ice Here at the charity, we encourage our supporters to take on challenges for us. Meet some staff members who, through meeting families and being inspired to take on challenges themselves, have together raised £40k to help beat muscle-wasting conditions across the UK.

Director of Research, Dr Marita Pohlschmidt, who cycled for eight days from Vietnam to Cambodia in February with a group of friends, found it really valuable to do an event with families who support our research.

“In 2010, Tracy and I trekked the Great Wall of China for the

charity. We made friends with Julie McNichol and Sharon Kelly on that trip and decided to take on another challenge event together,” Marita said.

“I am still living off this cycling challenge – the training was difficult and cycling in the heat was tough, but what a fantastic sense of achievement it was.”

Bobby Ancil, Neuromuscular Outreach Manager, who took on the Reading Half Marathon in 2010 and the London Marathon in 2011, said he enjoyed the thrill of doing something completely different.

“It’s the most self-satisfied I’ve ever felt, when I finished the

marathon. I also got to wear an orange vest with my name on it!”

He’s now joining Nic Bungay, Bex Johnson and Rosanne Diaz in the Great North Run in September. For Nic, Director of Campaigns, Care and Information, this will be his ninth fundraising challenge for the charity, while it will be a first for the charity for Bex (Neuromuscular Outreach Officer) and Rosanne (Information Manager).

“I’ve never run a race in my life – not since the 100m at school –

so I have some hard work to do before I can attempt the 13.2 miles in September,” said Bex. Operations and Finance Executive, Peter Duffy, took on three marathons in nine weeks last year.

“My brother Andrew has Duchenne muscular dystrophy and we are very close. Although I’m always active and a lover of sport, I cannot bear running so I seized upon marathon running as the perfect fundraising challenge,” said Peter.

Claire O’Connor, Development Manager, joined Team Jed on the Great North Run last year, while colleague, Louisa McLellan, Development Co-ordinator, took on the Great South Run.

“It was a great experience and I felt a brilliant sense of achievement once I was finished,” said Claire.

“I was quite apprehensive about doing a 10-mile run, but am still so proud of doing the challenge, as I’m quite a lazy person normally,” said Louisa.

Hayley Gill (Volunteer Fundraising Events Manager), Toya Champ (Challenge Events Manager) and Nick Hearne (Corporate Account Manager), joined forces to ‘conquer London’ by doing the Virgin Active London Triathlon 2013 and the 2014 Virgin Money London Marathon within 10 months of each other.

Hayley also skydived with a group of eight friends for the inaugural Make Today Count event in 2012, and finds she is motivated by the physical and mental challenge of events like this.

“Training can seem daunting but once you break it down and start getting fitter, it’s hugely rewarding. Re-learning to swim was one of the hardest things for me for the tri last year,” said Hayley.

Toya always encourages those around her to take on personal challenges.

“Once you do your first challenge and get the buzz of crossing the finish line, there’s no going back; you’ll be thinking about your next event before you’ve taken the medal off.”

For Nick, there was no better feeling than completing a challenge knowing he was also raising money for a great cause.

“It’s also a great motivational tool to get you out of bed for those early morning cycles or after-work runs in the rain. Try not to get too bogged down reading what you should and shouldn’t do for training, nutrition and race day – but do learn how to stretch and warm down properly, and above all, enjoy it!”

www.muscular-dystrophy.org 29

Nothing can take away how wonderful and proud you feel crossing the line of the event you’ve spent months training for, said Hayley.

The fundraising is surprisingly easy as your family and friends will really want to support you, and the charity provides lots of helpful advice and encouragement. If you’ve ever wanted to get really fit and have a memorable experience, then a charity challenge is for you! said Rebecca.

Jacqueline Gaffin (HR Advisor) blamed ‘a moment of madness when looking at a photo at a Muscle Group meeting’, along with her love of adventure, for taking on a Make Today Count skydive in February.

“After persuading my family it was a good idea, the initial commitment was hard but it’s a greet feeling to see all the donations coming in and the huge support people give,” Jacqueline said.

Online Manager, Helen Ridgway, skydived last year and has recently discovered how tough it is to be an endurance athlete, as she trains for the 2014 Virgin Money London Marathon.

“I’ve always wanted to run the London Marathon but never had the confidence I could actually do it. Watching our #TeamOrange runners last year, seeing their sense of team spirit and hearing the reasons why they were running, really inspired me to get involved, and show my support for the charity and the families affected by muscle-wasting conditions,” Helen said.

Training in the snow helped PR Manager, Claire Methven, prepare for running the British 10k on her birthday last year.

“I hear people say ‘oh, just a 10k’ all the time, especially as we hear about so many marathon runners, but running for an hour was a huge achievement for me! I think it is for a lot of people.

I’ve never been ‘sporty’ or athletic but my running has motivated two of my friends to start running. In a back-handed compliment, they said it was really motivating to see someone ‘not very fitness-y’ learn to run.”

Head of Digital and Direct Marketing, Dugald McNaughtan, loves visiting historical sites in the UK, so took on the Hadrian’s Wall Trek.

“It’s a great opportunity to bring people together – it’s worth all the hard work when you hit your target,” said Dugald.

Rebecca Day, Development Director, cycled the 320 miles from London to Paris during the hottest first week of August last year.

“The training was nine months of sheer slog, slowly building the miles in wet, windy, hilly Kent every weekend, along with cycling to the station most days. It was a real eye-opener at the huge time and effort needed to get the training in around everyday life ... an important insight for us as staff members, as hundreds of people say yes to challenges to support the charity every year. I fully appreciate just what a huge and impressive commitment this is,” Rebecca said.

Senior Policy, Campaigns and Parliamentary Officer, Jonathan Kingsley, took his challenge on not just one golf course but four when he took part in the charity’s Four Course Classic in 2011 and 2012.

“Playing more rounds in a day than I had done before meant I needed to ensure I was in an appropriate physical condition to take on the challenge – although that still didn’t diminish the exhaustion at the end of the day!”

Volunteer Fundraising Managers, Andy Punter (South West) and Sara Wilcox (North East) both took on running challenges last year.

“My supporters inspire me every day and I wanted to do my little bit to make a difference. I am not a runner and not particularly fit, but it was something I wanted to do before turning 40,” said Sara, who took on the Great North Run and a 26-mile walk.

Andy, who ran the Great West Run last year, wanted not only to beat his personal best but also to set an example to supporters by taking part in his local half-marathon.

“After training four times a week for three months, I smashed my personal best and finished in 1:44. With so many wonderful supporters that do so much to raise funds for us it is really worthwhile to put yourself in their shoes, get outside of your comfort zone and see what you can do!”

30

www.muscular-dystrophy.org

Come and play four courses in one day for us Test your golf to the limit and play 72 holes in a single day. Tee off as soon as the sun rises on Friday 13 June 2014 and embark on your golfing challenge as you try to reach the fourth clubhouse before the light fades.

After five excellent years, we expect our Four Course Classic will be even bigger this year. We have 400 courses to choose from, including some of the best in the country, and there are some great prizes for you to win.

For more information or to sign up please go to www.fourcourseclassic. co.uk. If you have any queries, please get in touch with Hayley Gill, Volunteer and Events Manager on h.gill@muscular-dystrophy.org or 020 7803 4824.

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

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

Duchenne Research Breakthrough Fund Eighteen months ago we launched the Duchenne Research Breakthrough Fund with the aim of raising funds to accelerate the pace in development of effective treatments for Duchenne muscular dystrophy.

Since the launch, over £1m has been raised and spent by the Fund thanks to the committed support of families across the UK and their fundraising activities. As a result of this support, phase two of the Fund was launched in September 2013 with the announcement of seven new research projects.

Supporters in Glasgow, Liverpool, Bristol and Gateshead came together during February and March to hear about the comprehensive programme of research being funded by the charity, and about the charity’s work to ensure patients in the UK have early access to emerging treatments.

If you’d like to support the Fund, please do get in touch with our fundraising hotline on 0845 872 9058 or email volunteerfundraising@muscular-dystrophy.org

Make Today Count 2014

F

amilies and friends from right across the UK came together to Make Today Count on 28 February and 1 March 2014 and raise much-needed funds for the Muscular Dystrophy Campaign’s vital Duchenne muscular dystrophy research. We’d like to say

a huge thank you to every single one of the

wonderful skydivers who braved the weather

and came together as part of #TeamOrange.

Over 140 people took the leap of faith and

made the jump, raising a staggering £100,000.

If you’ve been inspired and would like to Make

Today Count for Duchenne muscular dystrophy

research in 2015, please do get in touch with us

on 0845 872 9058 or volunteerfundraising@

muscular-dystrophy.org

Sports Quiz On Thursday 6 March, 160 guests enjoyed a black tie evening with us in the worldfamous Long Room at Lord’s. Our fourth Celebrity Sports Quiz bought with it fantastic auction prizes, much banter, and a challenging quiz, not to mention a great dinner and chance to meet UK’s sporting elite.

With Martin Bayfield as host, Vassos Alexander from Radio 2’s Chris Evans Breakfast Show as quizmaster and a welcome from charity President Sue Barker, teams battled it out over six rounds which saw Adrian Lajtha and the Lizard League emerging as champions.

Celebrity sports stars including Willie Thorne, Graham Bell, Matthew Hoggard, Anna Watkins and Stephen Hendry offered their help. Thanks to everyone’s generous support, the evening raised more than £100,000 towards our vital research.

A race through Durham A sunny Sunday in March saw over 300 runners don some orange and take to the streets for our inaugural Town and Gown 10k in Durham. Winding their way along a picturesque route along the Wear, hundreds of students and locals – including a team from the Newcastle Centre for Life, a leading international centre of research into muscular dystrophy – took part and together raised over £10,000.

A familiar face on the start-line was Nina Hossain, ITV newsreader.

“The run was fantastic and the route was the best I’ve ever done, so scenic and inspirational. Durham should be very proud, as should the runners who gave up their Sunday morning to support the Muscular Dystrophy Campaign.

Let’s make it thousands next year.”

This is the third in the Muscular Dystrophy Campaign Town and Gown 10k series, joining the popular Oxford and Cambridge events (see p31), which together have generated over £1m for the charity.

#TeamOrange in 2014

31

Muscular Dystrophy Ca mpaign Oxford Town and Gown 10k

11 May

Registration fee – £20

Sponsorship – £50

Muscular Dystrophy Ca mpaign Cambridge Town and Gown 10k 12 Oc

tober Registration fee – £20

Sponsorship – £50 Edinburgh Marathon 24-25 May

Lap the Lough 24 August

Registration fee – £49 Sponsorship – £375

Belfast Marathon 5 May

Registration fee – Variou s Sponsorship – £200

Great Manchester Run 18 May

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

Registration fee – £40 Sponsorship – £250

Bupa London 10,000 25 May

Registration fee – £25

Sponsorship – £150

Coast to Coast Cycle 12-15 June or 26 August – 7 Septemb er

Registration fee – £14 9 Sponsorship – £1,050

Land’s End to John O’G roats RideLondon Freecycle

6-18 May, 26 Aug – 7 Sep t 2014 10 August Reg

istration fee – £299 Sponsorship – £2,500

London 2 Brighton 24-25 May

Registration fee – £85 Sponsorship – £375

Registration fee – £30 Sponsorship – £100

Free

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

Registration fee – £14 9 Sponsorship – £1,300

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

Great Birmingham Ru n 19 October

Registration fee – £20

Sponsorship – £200

Great South Run 26 October

Registration fee – £25 0 Sponsorship – £200

RideLondon100 10 August

If you would like to find out more about any of these events, do get in touch with us on Registration fee – £45 0845 872 9058 or vol unteerfundraising@ Sponsorship – £550 muscular-dystrophy.org

Muscle Group meetings

Information days

We run Muscle Group meetings across the country, bringing together families to develop local campaigns to improve local services. These also provide opportunities to meet with other families, get support and advice on managing your condition, keep abreast of local services as well as the charity’s news and support programmes.

Join us on Saturday 14 June in Daventry, Northamptonshire for an Information Day for families affected by limb girdle muscular dystrophy. The event, organised by the charity, will be led by Professor Katie Bushby, MRC Centre for Neuromuscular Disease at Newcastle Institute Of Genetic Medicine, Newcastle University. Families will hear the latest updates in research, diagnosis and management of the condition.

Together with the Jennifer Trust, we’ll be part of an Information Day for spinal muscular atrophy on Saturday 28 June in Stratford-Upon-Avon.

If you’d like to join us at either of these information days, or to find out more, do get in touch with Maureen on 020 7803 4800 or infoday@muscular-dystrophy.org

Join us for one of our forthcoming regional Muscle Group meetings in your area, for an opportunity to meet other people affected by muscle-wasting conditions in a friendly and relaxed environment. The current round of meetings is looking at changes to disability benefits, specifically Personal Independence Payments and Personal Health Budgets.

“Thanks to all who attended, for their commitment and desire to tackle neuromuscular conditions head on. I look forward to the next West Midlands Muscle Group meeting in 2014.” (Bryan Gould) The summer round of meetings will focus on the Bridging the Gap online map of services. Check our website for dates and details.

If you’d like to join us at a Muscle Group meeting near you, please visit our website at www.muscular-dystrophy.org/musclegroups to find where and when the meetings will be held. If you have any questions, please do get in touch with us on 020 7803 4839 or campaigns@muscular-dystrophy.org

32

www.muscular-dystrophy.org

Bright orange silver linings After a three-year emotional rollercoaster ride, seeing three GPs, an orthopaedic surgeon, a physiotherapist, a paediatrician and a neurologist, Justine and Bruce McAlister eventually learnt what was ailing their youngest child, Benedict. The diagnosis of Ullrich congenital muscular dystrophy (UCMD) came to the Sussex family three years ago as both a relief and a blow.

Speaking with the media can be a daunting prospect. It takes courage for our media volunteers, like Justine, to speak publicly about often sensitive issues and experiences, but in doing so they raise awareness of neuromuscular conditions, bring serious issues into the spotlight and drive forward fundraising for both support and research.

Claire Methven, PR Manager

www.muscular-dystrophy.org 33

The McAlisters featured in our Spring 2012 appeal, which raised around £19k and was one of the stronger appeals in the last few years. People continued to respond to this appeal right up to October 2013.

Dugald McNaughtan, Head of Digital and Direct Marketing “It was so important to us to have a diagnosis. It really helped us to calm down, and GPs then started to take us seriously,” Justine said.

Benedict, now seven, is younger brother to Sebastian (12) and Nancy (10). He battled to stay on his feet after he started walking at 13 months, and would fall over, bump his head and struggle to climb stairs.

“In Benedict’s first year – which I like to call my ‘golden year’ – he did all the right things at the right time. When he started falling over as a toddler, and we realised we needed to find out the cause, we couldn’t find a GP who would take us seriously.

“We took him to a physiotherapist who mentioned the possibility of muscular dystrophy. We knew nothing of the condition, so we looked it up on the Internet and, when we realised that Benedict ticked every box, we were devastated.

That was the worst weekend for us,” Justine said.

“We fast-tracked Benedict to our GP who did a blood test and it came back negative. We were back on a high again, but six months later found ourselves still unsure what was wrong.

We eventually got to see a neurologist at Great Ormond Street Hospital, who recommended a muscle biopsy, which returned the diagnosis of Ullrich congenital muscular dystrophy (UCMD).”

Justine said they were fortunate to meet Dr Reghan Foley, who was doing her Muscular Dystrophy Campaign-funded PhD studentship at GOSH at that time.

“Reghan took us under her wing. She went to enormous lengths and spoke to all sorts of specialists for us, to find out exactly what was wrong. Everything we know about UCMD we learnt from Reghan,” Justine said.

Through Reghan, the McAlisters also learnt about the work of the Muscular Dystrophy Campaign and soon became involved in many activities. The family’s story featured in a fundraising appeal in 2012 that raised £19k for the charity. In 2013 Justine skydived in the Make Today Count fundraising campaign. Bruce and a team from work did the Three Peaks Challenge in August, raising £11k, and Justine and Benedict took part in a BBC South East news interview in October 2013 to support the charity’s campaign to increase access to rare disease drugs. This year, Justine has become an Advocacy Ambassador for the charity.

“At the point of diagnosis, we needed time to get used to the idea. And then we needed to speak to families who had been through a similar diagnosis. The charity put us in touch with another family and we found it extremely helpful to talk to them. If I can do the same for another family, as an Advocacy Ambassador, that will be wonderful.

“Once you’ve negotiated your way through securing a Statement of Special Education Needs, found a suitable school, done the Disability Living Allowance application, found out about a blue badge for disabled parking, it’s good to be able to help and encourage someone else with that sort of practical information.

“I can so remember what it felt like to receive the diagnosis, and I’d happily chat to someone going through a similar process.

“The Muscular Dystrophy Campaign website is the best place to go to find information; it’s so straightforward and easy to find.

The website is bright orange and optimistic – it’s like a front door to all the wonderful people who are there to help and speak to you. It is very positive, with the focus on research, support, diagnosis, the way forward, fundraising and a lot of ‘happy stories’.

It’s so valuable to come across this website; just like the charity it has no doom and gloom and is very focused,” Justine said.

Benedict is in year two in his local primary school and now uses a manual wheelchair. He longs to run, his expressed wish is for new legs and, even at the tender age of seven, he’s determined to live independently when he grows up.

“I continue to see silver linings in the dark cloud that is muscular dystrophy: the people I have met; the fantastic, amazing school he goes to; the way my other two children respond to him; the things I have learned about myself. My girlfriends all said how brave I was to jump out of a plane. This is not bravery; living with muscular dystrophy is bravery. I am motivated by the knowledge that all we need to find a cure is money, and time, both of which Benedict is short of,” said Justine.

With the support of both a loving, positive family and the leading charity fighting muscle-wasting conditions, Benedict’s future looks bright. Bright orange; with silver linings.

If you would like to find out more about Ullrich congenital muscular dystrophy, or make a donation to support the charity’s vital research, care and support services for families like the McAlisters, please do get in touch with us on 0800 652 6352 or info@muscular-dystrophy.org

n Benedict’s condition

Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy with specific features such as bendiness in the joints of the hands and feet, curvature of the spine and respiratory weakness. Initial symptoms present at birth.

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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.

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

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