Campaign September 2012

The newsletter for our supporters

Lighting the way

Meet two amazing people who carried the Olympic Torch for muscular dystrophy

Thank you

Read how our golfers braved extreme conditions to raise ÂŁ45,000 for us

Source of hope

Find out how your donations are helping us to make progress in research

2 to the latest issue of Campaign, outlining the recent successes and developments within the Muscular Dystrophy Campaign.

It’s great to share these stories with you because it’s you who makes all of this happen. We could never achieve any of these successes without the generous and ongoing support of people like you – so we’d like to thank you on behalf of the 70,000 people in the UK affected by muscular dystrophy and related neuromuscular conditions, whose lives we are dedicated to improving.

In this issue of Campaign you’ll meet some of our wonderful supporters who got to carry the Olympic Torch (page four) and who played in our 2012 Four Course Classic golf marathon (page three). You’ll also read about how the charity helps people to get the services and equipment they’re entitled to (page14) and about the latest Trailblazers report, Locked out, which highlights the problems young disabled people face in trying to find suitable housing (page six).

As always, we bring you the latest news of our groundbreaking research into treatments and cures: this includes the consultation process on a new technique that could prevent the inheritance of mitochondrial myopathy (page eight), as well as the announcement of a new safety trial for the utrophin drug for Duchenne muscular dystrophy (page ten).

Thank you, as always, for your continued and valued support, which keeps our vital work going.

Sue Barker MBE

President, Muscular Dystrophy Campaign

Campaign newsletter for supporters of the Muscular Dystrophy Campaign , written and produced entirely in-house. Muscular Dystrophy Campaign, 61 Southwark Street, London SE1 0HL

t: 020 7803 4834 e: info@muscular-dystrophy.org w: www.muscular-dystrophy.org

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

www.muscular-dystrophy.org

DMN/1208

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Come to our conferences

As a charity, we understand the value of community and of bringing together our supporters to meet with each other and with the charity. We do this in a number of ways, not least of which is through our annual conferences in Glasgow and Nottingham.

The theme for our 2012 conferences is ‘Winning the fight against muscular dystrophy’. Supporters will have the opportunity not only to hear about the latest research developments and campaigning successes, but also to meet with each other and make new friends.

Above par and beyond

This year’s Four Course Classic challenged our fantastic golfers in more ways than one. Not only did our 172 golfers get to play four rounds of golf on four separate courses in just one day, but they also got to play their golf in extreme conditions. Friday 22 June was the longest Friday in the year, and it also turned out to be one of the wettest.

Not swayed by torrential rain and excessive puddles, our 43 teams of four played more than four million yards of golf and raised more than £45,000 towards our vital work in beating muscular dystrophy and related neuromuscular conditions.

Do come and join us!

Scottish Conference Saturday 6 October 2012, Glasgow National Conference Saturday 13 October 2012, Nottingham For more information on the programme and accessibility, and to book your tickets get in touch with Maureen Winslade on 020 7803 4800.

If you’d like to take part in our 2013 Four Course Classic, please get in touch with Hayley on h.gill@muscular-dystrophy.org or 020 7803 4824.

4 Michaela Hollywood

5 June, Dromore near Omagh

I didn’t carry the flame just for me, but for my family, for my friends and for everyone with muscle disease.

For Michaela Hollywood, 22, who has spinal muscular atrophy, carrying the Olympic Flame was an incredible experience and one that hasn’t quite sunk in yet.

“It really put muscular dystrophy right into the forefront of people’s minds – I felt I did the ride for me and for my condition. People seemed to be surprised to see that I could do the seven-minute ride just like the next person, and could see that I could move forward with my condition, just like anyone else can,” said Michaela.

Michaela, an active campaigner for the Muscular Dystrophy Campaign’s network of Trailblazers, was surrounded by friends and family on the day. She had about 30 supporters of her own – her mum and dad, her friends and family, carers and carers’ families – to boost the thousands who lined the streets of Dromore to witness the torch’s journey.

“When I got off the bus and went round the corner, there were people everywhere. It only hit me what was actually happening, once I saw how many people were lining the streets. Although I don’t know anyone from Dromore, so many people seemed to know me and know my name and my story – it was incredible. My mum filmed me doing the ride, and when I look back at it now it’s quite overwhelming to see the support that I got. It’s something that’s very hard to describe, I never dreamed I would have the opportunity to do that.”

Michaela’s flame has been busy since its tour of duty on Tuesday 5 June; it has been to four schools and will be going to more in September.

“My achievements with the Muscular Dystrophy Campaign led to my nomination and selection as a London 2012 Torchbearer. I hope that what was a truly amazing experience for me will show the masses that those of us with muscle disease can, and will, run marathons every day to be fully included in the world.

And that we won’t be stopping any time soon.”

To read more about Michaela’s amazing day, visit www.bit.ly/michaelatorch

Laura Bizzey

5 July, Ufford, Suffolk The Muscular Dystrophy Campaign nominated Laura Bizzey, 15, an outstanding fundraiser and campaigner, to be a Torchbearer for the Olympics and Paralympics. Laura was thrilled and honoured to be selected.

Torchbearers’ tales

5 Laura, who lives in Snape in Suffolk, has multicore myopathy – a rare strain of muscular dystrophy – and never lets her condition stand in her way of any challenge. So along comes this once-in-a-lifetime experience to carry the Olympic Flame; Laura described it as ‘so special’.

Due to walk her 300m at 3.18pm in Ufford, Laura travelled to get on to the bus to join her team of torchbearers for that same route. The idea was for the group of torchbearers to cheer each other on as they got off and each had their turn.

A group of 60 friends and family came to Laura’s location by coach to line the pavements waiting for her.

“It was hot and noisy and great fun on the bus; the adrenaline was definitely there,” said Laura. They all had a pep talk about how to light the torch and what to do.

“When the bus dropped me off, I was handed my torch. I sat down for a while as the sponsors and the procession went by. Then my friends and family came to get photos, and lots of members of the public came by to get their photos taken too. I even had a dog come up to me to have its photo taken. All this unexpected attention was a great surprise,” she said.

As the first Torchbearer in Ufford, Laura had her flame lit from the ‘mother flame’.

“The torch relay support team walked along with me. I was nervous, the torch was quite heavy, but everyone was encouraging me and calling my name

and cheering. Never for a moment did I think I wouldn’t manage this once-in-a-lifetime challenge!”

Laura said.

The streets of Ufford were lined with people; local residents poured out on to the streets and cheered for the Olympic Flame.

Everywhere I looked I saw familiar faces of all my friends and family, Laura said.

According to EADT Suffolk magazine, the Torch’s journey was ‘possibly the biggest national occasion Lower Ufford has seen’. It took about five minutes for Laura to walk her 300m, and to create a memory that will live with her – along with her torch – forever.

“Her torch is lit and then, with pride and indomitable spirit, this extraordinary young woman steps out and, to the cheers of the crowd, takes the Olympic Flame 300 metres closer to London 2012.”

Read more about all of our Torchbearers experiences at: www.bit.ly/paralympics2012

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M

uch of the property industry appears to be oblivious to the housing needs of young disabled people according to our Trailblazers’ young persons network who made an urgent call for change when they launched their housing report, Locked out, in Parliament in July.

The Trailblazers led a national investigation into the experiences of young disabled people trying to find accessible properties. From these findings, they compiled their report to present to the All Party Parliamentary Group for Young Disabled People.

After surveying 200 young disabled people and running 12 focus group meetings across the UK over a period of nine months, the Trailblazers found that the barriers to living independently range from an estate agent’s lack of knowledge of the accessibility of housing stock to the disparity in the assessment criteria in different regions of the country.

The report calls for estate agents not only to make their property websites searchable for accessible properties but also to work with groups like Trailblazers to train staff to understand accessibility issues and the real needs of disabled customers.

Young disabled people locked out of the housing market

Paul Maynard MP, who chairs the Group, was joined by the Trailblazers to put the findings of the Locked out report to professionals from the property and housing industry.

Trailblazers Project Manager Bobby Ancil said the meeting was valuable.

“The estate agents, landlords and Local Government Association all recognised that disabled people deserve a better service. I am confident that if we can continue to hold these groups to account, we will see improved practices and better options for young disabled people who want to live independently,” he said.

Find out more at www.mdctrailblazers.org

www.muscular-dystrophy.org

7 Turning point for Northern Ireland care

‘We had to continue to campaign’

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hanks to the continued campaigning by our supporters, Health and Social Care in Northern Ireland have advertised for the role of neuromuscular care advisor, finally filling a crucial gap in care provision.

While an end to the delay in recruiting this post has been welcomed, The McCollum Report, launched by Muscular Dystrophy Campaign in the Northern Ireland Assembly in July, highlighted the fact that people in Northern Ireland living with muscular dystrophy and related neuromuscular conditions continue to experience stark gaps in specialist care.

For Gerry and Geraldine McCollum from Bangor, after whom our Northern Ireland report was named, the recruitment of a neuromuscular care advisor is a great achievement. The McCollums have campaigned with the Muscular Dystrophy Campaign for better health

services for people with neuromuscular conditions for more than a decade. Their son, Christopher, was diagnosed with Duchenne muscular dystrophy in 1989 at the age of five, and passed away in 2001.

While general care for Christopher was good, it took 18 months to get a suitable powered wheelchair for him after a spine operation. This was mainly because of lack of funds but was made more difficult because his progressive, life-limiting disability was not recognised in the procedure at all. The delay had a huge impact on his quality of life. He suffered severe pressure sores, which took months to heal and a tilt to his neck because he had no firm head support.

Treating these problems also cost the NHS thousands of pounds.

“Despite his disability, Christopher was always a happy boy with a wonderful smile. His courage and determination were an inspiration to everyone and he did not deserve what he had to endure for 18 months.

Everyone with a disability should be provided with the best care and support and should get the equipment they need as soon as possible,” said Gerry.

In 1998, the Muscular Dystrophy Campaign became involved and in 2001, Christopher was due to meet with the Health Minister to express how he felt; sadly, he never got the opportunity. The charity knew then, as in 1998, how important it was to continue to improve care and support for everyone with a neuromuscular condition. We hope that the results of this inquiry will bring real change for families, like the McCollums, who have fought so hard to see these issues being debated within government.

Throughout the UK, we have established community support networks - or Muscle Groups - to bring together people living with muscle-wasting conditions with clinicians, encouraging them to share knowledge offer advice and support, and to campaign for better services. If you would like to know more about campaigning or our Muscle Groups, do get in touch with us at campaigns@ muscular-dystrophy.org or 020 7803 4847.

Leading research. Supporting people.

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‘A vital source of hope’

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new technique has been developed that has the potential to offer women with mitochondrial myopathy the option of becoming mothers without passing their condition on to their child. The technique, however, requires a change in law before it can progress.

Mitochondrial disease may manifest at any age and leaves many facing the gradual loss of mobility, sight, energy, independence and ultimately, their quality of life. There is currently no treatment for mitochondrial myopathy.

Professors Doug Turnbull and Mary Herbert at Newcastle University have developed a technique called ‘cell battery transplant’ that involves in vitro fertilisation and allows DNA to be transferred from an egg with damaged mitochondria to a healthy, empty egg. It could be used to prevent women affected by mitochondrial disease caused by mutations in the mitochondrial DNA passing the condition on to their future children.

The technique has proven successful in the laboratory, but the current law prevents it from being tested in a clinical trial or developed for clinical practice. Under this law, researchers can investigate the technique using eggs and embryos donated to research but are only allowed to keep the embryos alive for up to 14 days. For this technique to be brought into clinical practice, a change in the law is required to allow the resulting embryo to be placed into a woman’s womb. According to a recently published report by the Nuffield Council on Bioethics, using these treatments to prevent the inheritance of mitochondrial disease would be ethical.

The Nuffield Council took evidence from nearly 100 individuals and groups including scientists, people affected by mitochondrial disease, and support and campaigning groups. Their examination of the science as well as the feasibility and dangers of the techniques brought them to the conclusion that

www.muscular-dystrophy.org

9 developing and using a treatment based on these techniques would be ethically safe. The resulting report will form a key part in the consultation process to change the law and in the progress towards a treatment for mitochondrial diseases.

The Muscular Dystrophy Campaign has spearheaded the development of this technique by committing over £500,000 over the last 10 years towards its pre-clinical research. With the research being so successful, the Wellcome Trust and the Medical Research Council last year announced an investment of £5.8m into a new centre for mitochondrial diseases, to take the technique to the next stage and to explore its full potential as a treatment.

The new technique is a vital source of hope for thousands of people affected by this disease, said Dr Marita Pohlschmidt, Director of Research at the Muscular Dystrophy Campaign.

We welcome the response by the Nuffield Council for Bioethics on this technique, and hope that the report will answer many questions for the public. We urge the government to recognise the human cost of delaying the further development of this treatment, and to act swiftly to allow it to progress, Dr Pohlschmidt said.

If you’d like to find out more about Professor Doug Turnbull’s research, or any of the other groundbreaking research that the Muscular Dystrophy Campaign funds, do visit our website at www.musculardystrophy.org/research Unfertilised donor egg with healthy mitochondria

Egg with abnormal mitochondria fertilised by IVF

normal mitochondria

abnormal mitochondria

Pronuclei containing nuclear DNA (chromosomes) transferred to donor egg

Donor egg with nuclear DNA removed

Embryo with the nuclear (DNA) of the parents and the mitochondria from the donor egg

Leading research. Supporting people.

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Safety trial for utrophin drug

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he start of a phase 1 safety trial of a drug designed to treat Duchenne muscular dystrophy has been announced

by Oxford-based drug discovery company, Summit Corporation plc. Unlike other approaches, such as exon skipping, this drug has the potential to treat all boys with Duchenne muscular dystrophy, regardless of what genetic mutation they have.

With the generous support of our donors, the Muscular Dystrophy Campaign has funded research

by Professor Dame Kay Davies into utrophin for more than 25 years. In collaboration with Summit Corporation plc, Professor Davies discovered and developed the drug called SMT C1100. Research has shown that treating a model of Duchenne muscular dystrophy with SMT C1100 resulted in increased muscle strength and muscles that didn’t tire as easily.

The drug is currently being tested in healthy volunteers. It is designed to increase levels of utrophin in the body which may be able to compensate for the lack of dystrophin in boys with Duchenne muscular dystrophy.

A previous phase 1 clinical trial by a US pharmaceutical company on SMT C1100 showed that even at high doses, only small amounts entered the bloodstream. Summit plc has since reformulated the drug into a form that should be better absorbed and therefore reach the muscles at the levels thought to be required to improve muscle function. In addition to testing the safety of the drug, this trial will also evaluate how well this new formulation of the drug is absorbed.

Initial results from the trial should be available before the end of this year. A successful outcome is expected to lead to a phase 2 study in Duchenne muscular dystrophy patients. It is possible that this drug may also help individuals with Becker muscular dystrophy who have reduced levels of dystrophin in their muscles.

Read more about the groundbreaking research that we fund at www.muscular-dystrophy.org/research_grants

www.muscular-dystrophy.org

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In the Queen’s honours list

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ong-standing Muscular Dystrophy Campaign supporter, Alexander Patrick, was recognised for his philanthropy and charitable services in June, when he was awarded the title Commander of the Order of the British Empire (CBE) in the Queen’s birthday honours.

Son of the late Joe Patrick, a founding member of the then Muscular Dystrophy Group and donor through the family charitable Trust, Alexander founded our welfare fund the Joseph Patrick Trust (JPT) in 1986 in memory of his father, and inspired by his brother who had Duchenne muscular dystrophy.

Since the establishment of the JPT, funding towards more than 6,000 pieces of specialist equipment worth more than £6m has been made, giving thousands of people with muscular dystrophy and related neuromuscular conditions increased independence and enhanced quality of life.

In April 2011, the JPT celebrated its 25th anniversary. Alexander’s commitment to the Muscular Dystrophy Campaign has been expressed in his support of groundbreaking research projects and in his advice and guidance through serving as a trustee, Vice Chairman and currently as a Vice President. He has made a truly remarkable contribution to our fight against muscular dystrophy and related neuromuscular conditions.

The charity congratulates you, Mr Alexander Patrick CBE. If you’d like to promote independence and enhance the quality of life of people affected by muscle-wasting conditions, do get in touch with us on 020 7803 4800.

Leading research. Supporting people.

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The Richard Attenborough Fellowship

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uch-loved and distinguished British actor, director and producer, Lord Richard Attenborough counts among his most proud achievements the impact he’s had on the work of the Muscular Dystrophy Campaign and on people affected by muscular dystrophy and related neuromuscular conditions.

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13 Lord Attenborough first took note of the work of the Muscular Dystrophy Group (as it was then known) in 1962. He went to a local hospital fête where he met some young boys with Duchenne muscular dystrophy. He’d never heard of the condition and made a point of finding out as much as he could about it. He also made a promise to himself to do what he could to support the work of the charity.

That was fifty years ago. During the half-century since then, he has received a CBE (1967), was knighted (1976) and created a life peer (1993). Alongside his significant career in film, Lord Attenborough has also contributed considerably to raising the profile of the charity; not only has he generated hundreds of thousands of pounds for us, but he also served as President of the charity for 30 years. Now an Honorary Life President (since 2004), Lord Attenborough remains an inspirational supporter of the charity.

The Muscular Dystrophy Campaign has been extremely close to my heart since I first joined the Group as a Vice President in 1962. I have never forgotten learning at first hand of the impact of muscular dystrophy on boys with Duchenne and being so moved and indeed distressed to find that there were really no effective treatments and indeed no sign of a cure even on the far horizon in those days, Lord Attenborough said.

Driven to do what he could to change this, Lord Attenborough set up an appeals committee in the 1980s that raised millions of pounds for research into muscular dystrophy and related neuromuscular conditions. His determination has always inspired people, leading many of his friends and indeed the general public to support our work and, as a result, we have been able to make a growing investment in scientific research. We are closer now than we have ever been to the first treatments, and we need to build on these significant achievements.

In honouring Lord Attenborough’s commitment to research, we are launching the Richard Attenborough Fellowship fund to enable the charity to drive forward his initial work. Through this fund, the Muscular Dystrophy Campaign will be able to offer Richard Attenborough Fellowships to ensure clinical research and training continues at the leading UK neuromuscular centres in Newcastle, Oxford and London.

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Speaking up for Jake Our advocacy service helps people with muscular dystrophy and related neuromuscular conditions to fight for their rights and get the essential services and equipment they need. Here is just one story.

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ake Bright is like any other teenager; he attends a mainstream school, is currently studying for his A-Levels and, like lots of people his age, wants to study at university once he leaves school.

Jake has Duchenne muscular dystrophy, and is a full-time wheelchair user. Nothing holds him back.

Jake first got in contact with the Muscular Dystrophy Campaign when it was clear he had outgrown his wheelchair and needed a new one to be able to participate fully in and outside of school. He felt his independence was being limited as he was restricted by different table heights in lessons, was not on the same eye level as friends and as a result he was unable to socialise fully with his peers. His wheelchair battery power could last only during the school day, which meant he was unable to go out after school with friends or take long full-day trips during the holidays with his family.

As his ‘extra’ needs were not considered eligible for a new NHS wheelchair, Jake applied and was awarded a grant from the Joseph Patrick Trust*, for a wheelchair which was designed to meet his complex needs.

However Jake’s tailor-made wheelchair did not work properly.

The chair was sent away for repairs and when it came back, it was still not working properly.

Understandably distraught, his family had to put all of their summer plans on hold until Jake had a reliable chair that he could trust.

It was at this point that the Bright family got in touch with the Muscular Dystrophy Campaign’s advocacy service, and we took the case on. We wrote on Jake’s behalf to Invacare, asking them to provide Jake with a new chair.

They agreed to do so, and within a fortnight, Jake had his new wheelchair, valued at £7,273.

Jake was thrilled.

Thank you for your help in getting me my new Storm 4 wheelchair. I’m sure without your input I would still be in my old chair with the same old problems! I’m keeping * Through the Joseph Patrick Trust, the Muscular everything crossed and Dystrophy Campaign helps people with muscular looking forward to problem dystrophy and related neuromuscular conditions free journeys and some fine to remain independent and enhance their quality warm weather, especially of life. By providing vital financial support towards on our holiday to the Peak specialist equipment to help promote mobility and District this summer. independence, the grants go towards equipment that the health and social services do not provide. www.muscular-dystrophy.org

Thanks again for all your help.

15 How we help

During its first year of service, our charity’s advocacy service took on 123 cases and secured £500,000 worth of support, services and equipment. Our pro bono partner law firm, Hogan Lovells, took on 11 cases and our partnership programme was short-listed for the Business Charity Awards.

If you would like any more information about our advocacy service and to request an Advocacy Pack, which gives you the tools and information to ensure you get the benefits and equipment you’re entitled to, please contact us on 020 7803 4800 or info@muscular-dystrophy.org

Leading research. Supporting people.

In memoriam

A special way to remember friends and loved ones A donation to the Muscular Dystrophy Campaign is a very special way to remember and honour the life of a relative or friend. Your donation will be used to give hope and support to all those families living with muscular dystrophy and related conditions.

If you’d like to talk to someone about In Memoriam giving, please do get in touch with Sarah Greenwood: t: 020 7803 4834 e: s.greenwood@muscular-dystrophy.org w: www.muscular-dystrophy.org Registered Charity No. 205395 and Registered Scottish Charity No. SC039445