ISSN: 1366-0209 January 2013 No. 46 A-T Society News

In this Paralympic edition: • Two new patrons enter the ring • Yossi Shiloh looks to go all the way to the line • Paralympic cyclist Roxy Burns is a star in London • Neuroscientists in wheelchairs on the podium in Washington 2 A-T Society News

Ataxia-Telangiectasia is a rare, genetic, neurodegenerative disease. It starts in early childhood and affects many parts of the body causing severe disability.

The A-T Society was established in 1989 and is committed to helping, supporting and advising all people living with A-T. The Society aims to improve quality of life and quality of care for people living with A-T while actively promoting research to lengthen lives and ultimately bring about a cure. We do this by: providing information and support; working to achieve better health and social care services; promoting and funding high-quality research; speaking out to ensure that the voices of people affected by A-T are heard; and raising awareness of A-T.

Support grants Contents Upcoming events

3-4 Diary 11-15 People

Lian Yarlett, chairman Fantastic Florida Page 12

William Davis, chief executive Paralympic special

Interview with Yossi Shiloh 5-7 News Page 5

Vincent Poupard retires 16-17 Research

Research partnership Betamethasone study

Two new patrons A-T Neuroscience Forum in Washington

8-9 Support services 18-28 Fundraising Page 28 Benefits update Page 14

Editor’s Comments

Many thanks to all contributors. The copy date for the Tel 01582 760733 next issue is 1st May 2013. Please send comments, Fax 01582 760162 ideas, articles and pictures to: [email protected] atsociety.org.uk Beatrice Prokofiev 07841 485330 Registered Charity No.1105528 [email protected] The opinions expressed in A-T Society News are those If you would like to receive this of the individual authors and not necessarily those of newsletter by email as a pdf file, please the A-T Society. let us know.

A-T Society, IACR-Rothamsted Cover picture: Emily with TV presenter/Paralympic Harpenden, Herts AL5 2JQ wheelchair basketball legend Ade Adepitan A-T Society News Diary 3 View from the chair

Lian Yarlett, chairman of the A-T Society, looks back at a busy year for the Society and forward to 2013 – which promises to be another action-packed year

We are coming towards the end direct at the office. of 2012 already, and it really has been a busy year. From its foundation, one of the Society’s key missions has been There have been many highlights to ensure that the care it provides and for me, as always, the is total – supporting the child and Family Day is at the top of the the family with care and advocacy, list. But this year the Cambridge as well as promoting and conference has to be there too. funding research to develop our This was an incredibly valuable understanding of and treatments investment – both for the near for A-T, and raising awareness. future and the long term – and I am very proud that the original was extremely successful in vision remains strong and that we encouraging researchers and are able to maintain the balance clinicians to collaborate more and of providing practical care, which share knowledge to drive forward makes a real difference to our treatments and care. It led to children today, with research that interest from new key players, not delivers improvements and, in the previously involved directly with long term, will change the future. 2013 is already looking to be a A-T. Some very important joint very positive and interesting year. work has already commenced and One of the most important people The Ataxia-Telangiectasia World some exciting developments are in originally shaping this vision Conference is being hosted here under discussion for 2013… We and later making it a reality is in the UK; there are a series of will keep you posted. Vincent Poupard. Vincent, who new research projects we are has been a trustee and treasurer looking to fund and an exciting Of course, we just can’t get of the Society for many years, fundraising programme looks everything into each edition of has now stepped down from the very promising (although we can the newsletter – there is simply Board. On behalf of everyone, I always do more!). I hope to see too much. If you’re into computers would like to say a very big thank you at our Family Day and until then keep any eye on our website you for his personal strength and then I wish you all a Happy New or join us on Facebook where commitment for the benefit of Year. we post up-to-date news and others and to wish him well for the developments, or contact us future. Lian

Mugs, Bags and Wristbands

We are delighted to offer a limited edition A-T ‘Keep Calm’ mug. These are the perfect gift, ideal to make you smile with every cuppa! The mugs retail at £5 and you can purchase online from our website.

You can also pick up Jute Bags for £4 and our glow in the dark wristbands for just £1.

Please make use of the online shop – it’s there for you! 4 Diary A-T Society News Just William

William Davis considers the findings of the My Life report, which shows that there are very different views on the importance of research

I sat down to write this column, time. Often, when someone is planning to talk about research. first diagnosed, they and their A lot has happened this year families see research as the including the recent very interesting prime consideration, hoping to forum organised by the A-T see significant improvements in Children’s project. But as my treatments before the condition computer warmed up, into my worsens. However, over time, when inbox popped the first draft of the progress perhaps hasn’t been as report on the findings of the My Life rapid as they hoped, or their needs project. for support become greater, they may come to give more importance If you haven’t heard of it – or don’t to other work around services, remember – this was a series advocacy or practical and financial of interviews carried out by the help. University of York with young adults with A-T and their families. It is a challenge, particularly for small organisations like ours, to be The report makes fascinating effective in providing help in all the reading and offers a lot to think different ways that people want. It about and work on in the months It is a challenge, is even harder in a condition like ahead. However, given what I was particularly for small A-T which affects people from early about to write, one thing particularly childhood to advanced adulthood. If struck me: the ambivalent attitude organisations like ours, to you try to be all things to all people, of young people with A-T to be effective in providing the danger is that you get lost. research. help in all the different The answer, I think, is to recognise Some people interviewed ways people want. the challenge, understand what it were positive about research, is that different people want and recognising that it gave hope of a expect and plan as best you can to cure, if not for themselves, then in being treated like a guinea-pig”. meet these varying needs. the future. While not in the report, another young person with A-T has said I hope that the A-T Society is However, others thought differently: to me: “I don’t support research. doing this. We are increasing our “if you’ve got A-T there’s no cure Without A-T, I wouldn’t be me.” commitment to research and by for it. So I don’t like [research] at the middle of next year we aim to all... I’m not interested”; “I don’t like These comments may come as have a portfolio of active research a surprise to some of the many projects that we are funding. At people who consider that research the same time, we will do more to should be one of the Society’s provide support to people in living biggest priorities. However, they with A-T, now – and an important underline the fact that there are a part of this will be talking with wide range of views about what adults with A-T about what we can our priorities should be. We have do for them, based on the findings to understand and, as far as of My Life. we can, respect these different opinions. But it is equally important that you keep telling us what you want us to This is a normal issue for a charity do. We may not be able to do it all, dealing with a long-term medical but we are here to do as much as condition that has no effective we can. Bryony Beresford presented the My Life treatments. It is also very common project at the family day in June that people’s views change over Have a happy, healthy 2013. A-T Society News News 5

Vincent Poupard retires

It is with a mixture of sadness held by so many people, both and immense gratitude that we within and beyond the Society, publish the news that Vincent has owe an enormous amount to his stepped down from the Board of influence. Trustees. From its inauguration 23 years ago, Vincent has been the However, in addition to the skills Society’s treasurer and at other and knowledge that he brought, times its chair. But more than that, Vincent also gave huge amounts along with his wife Maureen, who of time and energy to the Society. retired last year, Vincent has been This was not just in keeping the a rock on which the Society was Society’s books, but he would built. also get involved with or would contribute to almost every aspect As treasurer, Vincent was a of its work. prudent and meticulous guardian of the Society’s finances, However, along with his serious ensuring the highest standards of side and his uncompromising accounting and accountability and commitment to making the Society at the same time cultivating and as good as it could be, we will growing our funds to put us in the miss the other sides of Vincent: Like Maureen, Vincent abhors any strong position we find ourselves in the wicked sense of humour fuss, so we have severely limited today. which he gives rein to frequently here what we might have written. when relaxed and more sparingly, Vincent’s concern to ensure that sometimes unexpectedly, when Nevertheless, we are confident things were done to the highest working; the deep sense of that we speak on behalf of the standards made itself felt across compassion and concern for entire community of people that almost every aspect of the others, which he is shy of revealing live with or work with A-T in Society’s work. directly, but which clearly underlay thanking Vincent for the enormous everything he did for the Society; contribution he has made and in The high quality of the Society’s and the breadth and depth of his wishing him great happiness and services and information and the knowledge and intellect. fulfilment in future. high reputation in which we are ERYDEL make progress in America

Erydel is the company that drug by the Food and Drug In the meantime, a paper makes the machines for infusing Administration (FDA) in the United published by Menotti et al dexamethasone – a steroid States. This recognition is likely to in the Journal of Biological similar to betamethasone – into help and speed up the process of Chemistry suggests a reason for the patient’s own blood cells. We getting authorisation to use it for the effect of steroid treatments; reported on the results of a phase the treatment of A-T. it proposes that dexamethasone II trial they had carried out in Italy alters the process by which in last December’s newsletter. Once approval is granted, the the DNA is copied from the company will be looking to carry ATM gene to create the ATM This study showed significant out a large-scale efficacy trial, protein. improvements to the scores of though they may be required to around half the patients on the carry out some smaller phase 1 The authors suggest that lengths trial, but importantly there was a studies first. of the DNA are skipped and the complete absence of the typical result is a protein which is much steroid side effects. If this trial does take place, there shorter than it should be but still is a distinct possibility that patients contains the all-important kinase- At the end of July, the company in the UK will be recruited to take domain – the active part of the had their product – known as part. We will keep you updated on protein that ‘switches on’ other Erydex – recognised as an orphan progress with this. proteins. 6 News A-T Society News

Research Partnership Scientific advisory board As was announced in the July However, whatever decision is edition, the A-T Society has made, we will be working with We are delighted that Professor gone into partnership with two some of the unsuccessful bids to Penny Jeggo has agreed to chair other charities – Action for A-T try and put together funding from a new Scientific Advisory Board for and Sparks – to set up an A-T other sources. the Society. Penny is a very well- research fund. known and widely respected figure A number of other researchers in the A-T research community and The first call for applications expressed an interest in applying will bring to the role a very broad closed in August and five but didn’t get applications in knowledge of A-T research. applications were submitted. Of before the deadline. We are these, three were sent out for therefore hopeful that the next Penny’s background is as a peer review – i.e. sent to other call, in 2013, will attract even cellular molecular biologist. She scientists for their comments on more applications. has worked extensively on DNA the quality of the project. damage response mechanisms The project is about more than and, in particular, the role of the The administration for the research, though, and the three ATM protein in this. She has assessment programme was charities are collaborating and also identified another genetic carried out by Sparks. In October, sharing resources to raise money condition, Lig 4 Syndrome, which their Medical Advisory Committee for the fund. like A-T combines radio-sensitivity of experts met to assess the and immune-deficiency. applications. Sparks has very generously made available some places it has for The Board will advise the Society Two of the applications were the 2013 London Marathon, while on scientific matters and will considered particularly interesting, the three charities are sharing shape its research strategy. It but, in the view of the committee, places for the Ride London 100 will also assess applications they needed a bit more work. This cycling event in August. for research grants and make is currently being done. recommendations to the Board on which grants they should make. Rather frustratingly, as we go to print, a final decision on The Board will meet for the awarding the grant has not yet first time in the new year. Its been reached, but we very much members will include Professor hope that an announcement will Malcolm Taylor of the University of be made early in the new year. Birmingham and representatives of Keep an eye on our website the two A-T clinics at Nottingham or Facebook page for news and Papworth. The final members of this. are currently being agreed.

Do you have a story you’d like to be told?

We are working with a freelance misdiagnosed for many years. journalist who is experienced in placing articles in the national Of course it also has a benefit press and magazines to raise to us in terms of raising the awareness of medical conditions funds which are essential to ensure the charity will be here From our perspective, increasing for every A-T family in the years public knowledge has resulted to come. in potential new diagnoses after parents have read articles about If you would like your family to A-T and recognised the symptoms be involved, please in the first in their own children. At least instance contact Suzanne Roynon one of these children had been at the office. A-T Society News News 7 Two new patrons

The A-T Society is both delighted and honoured that two high-profile people have agreed to become Patrons of the charity

Brian Conley

Brian Conley is very talented and multi-faceted entertainer. Comedian, TV presenter, singer and actor, he is one of the most popular stars of the showbiz world. Brian has been a familiar face on television and in theatres across the country for many years, appearing recently in I’m a celebrity, get me out of here. From top, going clockwise: Merry and Brian; Brian with Helen Brian became aware of A-T while Carter; Brian with Jo Bloomer he was performing as Fagin in Oliver at the theatre Royal in Plymouth. Jo Bloomer, mother of and A-T were constantly featuring Lola, who has A-T, had appeared big on the pages of the Herald, and on the front page of the local paper, the show eventually raised more the Plymouth Herald, telling their than £11,000. story (see page 21). Brian read this and was so moved that he decided Brian said of his new role: “I am to put on a special late night show honoured to be a part of the A-T to raise money for the A-T Society . Society. When we read about Lola, who is absolutely gorgeous, we felt something to help find a cure and, if His generosity and his high profile moved and had to do something. my support and my name can help meant that for a week or so, Lola My reaction was that I needed to do do this, then I’m with you.”

Lord Bilimoria After growing up and graduating in number of different countries and India, he moved to the UK, where was made a life peer in 2006. Lord Karan Bilimoria has had an he later took a law degree at illustrious business career and is Cambridge. He was moved by his On his new appointment, Lord a champion of social responsible experience in British restaurants Bilimoria said: “I have been very business. He is best known as the to produce a lager which had touched to see the impact that founder and Chairman of Cobra less gas and would go well with A-T has on children who have Beer. curries. Thus, Cobra Beer was it and on their families. I am founded. extremely impressed by the work the A-T Society does to support In recent years, Lord Bilimoria these people in living their lives has been very active outside his to the full now, and to bring hope business life, with a wide range for the future through research. of charitable and other interests. I hope that my support will help He has taken on many roles strengthen them in this work.” including those of Chancellor of Thames Valley University, Vice We are very grateful to both Chairman of the London Chamber Lord Bilimoria and Brian for of Commerce and President of the their commitment to supporting UK India Business Council. the A-T Society and look forward to working with them to He has received honours from a raise the profile of A-T. 8 Support Services A-T Society News

Benefits update Introducing our new A-T medical cards Housing Benefit Child Benefit From April 2013 there are going From January 2013, child benefit is to be some changes for those being withdrawn from high income We are delighted to introduce our who claim housing benefit for families. This will affect individuals new ‘Medical Card’ (see below). council or housing association earning more than £50,000 per This is the size of a credit card and homes. year. will fit easily into a purse or wallet.

This will involve new criteria for New Universal Credit The card is a simple way of telling how many bedrooms/children This will be launched in 2013 and people about A-T and its most you have and if you are ‘under will replace: important symptoms, as well as occupying’ your home. (i.e. if you • Income-based Jobseeker’s directing them to our website for have a spare bedroom or young Allowance more information. children are not sharing). • Income-related Employment and Support Allowance In the case of a medical This may mean that you will • Income Support emergency, it will ensure medical receive less housing benefit. • Child Tax Credits practitioners have the information However, if you have a disabled • Working Tax Credits they need to know. child who has to have their • Housing Benefit own bedroom because of their We are in the process of sending condition, this situation can be If you have any questions about these out to everyone in the UK assessed by your local housing any of these benefit changes and Ireland. benefit office. please do contact Kay. However if you live elsewhere in the world, or if you would like an extra card, we would be happy Support Grants to send you one. All we ask for is a donation of £2.00 to cover In 2012 we made many support postage. Please contact Kay if you grants to families and adults would like one. affected by A-T. Examples of what we funded include: • Respite/holiday breaks • Wheelchairs • Driving lessons • Therapy sessions • Adapted trikes

Lisa and her daughter Ella had a wonderful time at Butlin’s this year. The Society funded a week away for them as they hadn’t had a break for many years and Lisa’s condition was deteriorating. Lisa has a milder Lisa & Ella at a Butlin’s character lunch variant of A-T and her daughter Ella is a young carer. read our criteria and complete an application form. Please contact Lisa said: “We had a fantastic Kay if you need any advice and time; it was great to get away help with this. from home and spend some time together, without the stress of normal everyday life.” UP FOR GRABS: Electric, height-adjustable table (40x36 inches). Ideal as work table for computer. Was very expensive when new. If there is anything that you need Current owner requests the new owner gives a small donation to the help with, please go to the ‘Support Society as payment. If you’re interested please contact the A-T Society. Grants’ page on our website to A-TA-T SocietySociety NewsNews Support Services 99 Upcoming events

Family Weekend We will have speakers on a 22/23 June 2013 number of topics including the Manchester latest research into A-T, education and IT equipment, as well as Next year we will be holding our a wonderful banquet and an annual Family Weekend at the opportunity for you to meet up with Radisson Blu Hotel, Manchester other families. There will be craft Airport. This is a fully accessible activities for the children as well as hotel with excellent rail and ten-pin bowling for all ages. Kay airport links. We have chosen to will be sending out further details come north this time at the warm in January together with booking invitation of some of our northern forms. families. Radisson Blu Hotel – Manchester Airport

Young Adults Event can most usefully respond to them. 15/16/17 March 2013 The workshop will be facilitated by Milton Keynes Bryony Beresford of York University.

This event is for people who are In addition to the workshop, there already involved in the ‘My Life’ will be other optional and more project, which talked to young energetic activities (see right). adults about their experiences and Those eligible for the weekend aspirations. should have received details through the post. If you haven’t yet Central to the weekend will be a registered for this and are between workshop with opportunities to 16-26 years old and would like to discuss the findings of the report attend please contact Kay ASAP as and to discuss how the Society there may still be spaces available. Airkix indoor skydiving activity PS3 helps with schoolwork Kay Atkins is our By Tina Stubbs create an interface with the systems Family Support used by the school. They have now Worker. My son with A-T was having real done this and he is happily doing difficulty using a computer at his schoolwork using his controller. Kay’s normal working school. We had tried keyguards, This has opened up a whole new hours are Monday to intellikeys and joysticks but nothing world for him. Another advantage seemed to work for for the school is that Friday, 8.30-4.30. him. However, since PS3 controllers can he was small, he be bought for as little You can call Kay on has been an avid as £6.99 – whereas 01582 760733 or email computer-games specially made [email protected] player and we equipment often realised that he was costs hundreds of quite comfortably pounds. sending messages to his friends via his PS3, using the At the moment, we are waiting controller to write the messages. for the school to produce some software to enable him to use the After a discussion with the IT same controller on a PC at home. department at his school (Treloar’s Once they have done this, we will in Hampshire), they said they would make sure the A-T Society knows in be able to write some software to case anyone else is interested. 10 News and People A-T Society News

Numbers! Blazing a trail

You may be interested in the By Rupert Prokofiev the past and it was published following stats about A-T: in a report, Removing Barriers, I first found out about the Promoting Independence, which Trailblazers at the A-T family was released that day. 145 weekend in 2011. Ever since Total children/adults registered with then I have been involved with Through Trailblazers I have us in the UK (with A-T or ‘A-T like’ Trailblazers, a group of young also been on BBC TV twice with condition) disabled people who campaign for the APPG, talking about hotel disability rights. accessibility and about the cuts to the disability benefits after the 83 I have mainly been going to Paralympics. Adults (16 & over) Parliament with the APPG (All Party Parliamentary Group) for I discovered and took an interest Young Disabled People. These in the Trailblazers through the A-T 62 have all been days when I have Society, so I encourage others to Children (Under 16) had to go in to central London from grab the bull by its horns and get my home in Greenwich via the your voice out there. Thames Clipper. Out of 145: Trailblazers is a national network 136 have A-T At Parliament we have discussed of more than 400 young disabled 9 have A-T like conditions a range of different issues that people who work together on a we face with our disabilities. The national and local level to highlight Out of the 136 who have A-T: issues we have discussed, for and address the issues that are 68% (approx.) have classic A-T example, have included issues important to them. 32% (approx.) have a mild surrounding cinemas, housing, variant hate-crimes, public transport, The group is organised by the higher education, and more. Muscular Dystrophy Campaign, but any young disabled adults are On Wednesday 21 November, I welcome. For further information The symptoms of mild-variant A-T attended another APPG session about Trailblazers and how you are broadly the same as those of where we gathered all the can get involved go to www. classic A-T, except that they tend evidence we had discussed in mdctrailblazers.org. to progress more slowly and may appear later. While some people with this form of A-T are diagnosed in childhood, others receive a Studying breathing diagnosis as adults. Dr Emma Ross from the The research team are working in For some, the symptoms may University of Brighton is currently the laboratory to ensure that the have been apparent for a while, undertaking a study to improve testing equipment and protocols perhaps appearing during teenage the strength of breathing muscles are sensitive enough to detect years, but have been misdiagnosed in young people with A-T, jointly even small changes in lung and as another condition. For others, funded by The A-T Society and respiratory muscle function in they only reveal themselves in the A-T Children’s Project. people with A-T. adulthood. In A-T, weakness and The research team is looking Geographical spread of children/ uncoordinated control of muscles for volunteers. Please contact adults in the UK: also affects those muscles which Kay at the A-T Society if you’re allow us to breathe. People with interested, and she will pass on 6 in N. Ireland A-T often find breathing more your information. of an effort and as a result their 8 in Scotland cough can become weak. This Dr Ross hopes to be able to in turn can lead to repeated lung present some of the preliminary 12 in Wales infections because they are findings of the study at the 2013 unable to clear mucus effectively. family day. 119 in England A-T Society News People 11 Fantastic Florida

Two of our children have recently been to Florida – one with ‘Make a Wish’ and one with ‘Dream Flights’. Both said it was a holiday of a lifetime

Kira, Make a Wish

We went to Florida for 7 nights with the ‘Make a Wish Foundation’ and ‘Give the Kids the World’. The whole experience was magical and Kira enjoyed every minute....so did we.

We visited all the Disney Parks twice, Seaworld, Universal studios and Legoland. We met Santa at Mickey’s Very Merry Christmas Party. We watched the fireworks and parades at Magic Kingdom, Epcot and Hollywood Studios.

Kira met and got the autographs of all the Disney Princesses and lots of characters that she loves, including Spongebob Square Pants.

All in all, it was a holiday of a life time.

Hayley

For more information on how they got go to, you can visit the websites:

www.makeawish.org.uk www.dreamflight.org

Mert, Dream Flights

Mert (age 12) went to Florida without his family, with ‘Dream Flights’ (who provide 24 hour care and medical support).

He said: “I had a fantastic time in Florida and went on every scary ride! I met some wonderful people and made lots of friends. It was definitely a holiday of a lifetime!” Kira (top pictures) and Mert (above) had fun and made new friends in Florida 12 People A-T Society News Paralympic pride

William Davis caught up with South African cyclist Roxy Burns, who competed in the London 2012 Paralympics and who has A-T

As stars go, South African cyclist Roxy Burns is rather shy. Roxy, who has represented South Africa at both the Beijing and London Olympics, and won a silver medal at the World Championships in Manchester in 2009, is in all probability the most successful sportsperson with A-T that there has been.

We met up with her at the Olympic Park in Stratford, after she had completed a very successful week, competing in three different events. While she didn’t win any medals, she broke her personal best in the first event, almost did so in the second and posted an excellent time in the road-race time trial, where courses vary so that you can’t really have a personal best.

I asked her how it had been riding in the velodrome: “Incredible! Wow!” she says. Left and top: Roxy in action; “I’ve never raced in front of above: Roxy with her brother a crowd like that. You can James, who also has A-T hear the sound following you round the track. In Beijing, the velodrome was much emptier – she started to walk. A doctor (Cerebral Palsy International in fact that they had to bring in suggested Cerebral Palsy but her Sports and Recreation bus-loads of school children. And mother refused to believe that, Association) games in Connecticut in Manchester, the crowds were as both pregnancy and birth had USA, and decided to specialise. much smaller.” been free of any complications. She took Roxy to a children’s So how does her A-T affect her And what was it like living in the hospital in Cape Town where, after cycling? The bike she rides is village? “That is amazing. It’s a series of tests, a doctor asked a normal track racing bike – so... vibrant! There are so many for a radio-sensitivity test, and A-T and that means it has neither people, though what with training was diagnosed. gears nor brakes. However, she and competing you mainly get manages that fine. The main to mix with people in your own Later, her parents chose to send problem she has is with her team. But I’m also friends with the her to a special school and it was balance. This makes it difficult for other competitors in my group, there that she took up cycling. her to hold a straight line, even especially the Aussies.” She was encouraged by the when travelling at speed – and physios to do sports because she reaches speeds of more than Roxy has a milder variant form they said it would strengthen her 48 kph. Fatigue, she says, doesn’t of A-T. Nevertheless, it turns out muscles. Initially she was involved affect her – at least no more than she was diagnosed at the age in track and field athletics as well it would anyone who trains for of 18 months. Like most people as cycling, but in 2005 she was three hours a day, six days a with A-T, she was wobbly when selected to cycle at the CPIRSA week. A-T Society News People 13

As to diet, she has no problems eating. While she doesn’t have a More fun at the Games special training diet, she does eat healthily. She also tries to eat little We were lucky to get tickets for a fantastic day, we went to see and often. “So what about the food three events at the Paralympics the Athletics, and had excellent at the Olympic Village?”, I ask her. Athletics, Swimming and accessible seating with a great view “It’s great!” she says. “There are Wheelchair Basketball, and a of the track. It was a very hot day all these different sections you can number of our families were able but luckily we were in the shade! go to for different styles of food to go. We were even joined by a The atmosphere was electric and – British, Mediterranean, African, young man from France, Laurent we were all screaming when team Indian and so on.” Poursoubire, who was featured in GB were on the track. We saw last December’s edition. some wheelchair races, running “Is the British section where you races and long jump (some of go when you want some quiet?” Sadly we were unable to get tickets whom were amputees or blind). It She laughs: “Actually, it’s the to see Roxy Burns, the cyclist with was very inspirational seeing these busiest...” A-T (see previous page), as her athletes, who have trained for many events were sold out. Everyone years, going out and giving their all. She trains both in the gym and on was impressed by how accessible It was a very long day and I think the track. This obviously requires all the venues were and all the Stephen and Neil were exhausted real dedication and, as she tells volunteers, the ‘Games Makers’, by the end, but they were adamant me, it can get very lonely. I ask were great. it was well worth all the effort!” her what inspires her when she’s pounding away at the training. Our Family Support Worker Kay George also went, with his Dad “It’s moments like these. It’s going went with her husband Kevin to Nick, to the Athletics Stadium. overseas and performing in front help Stephen and Neil (who have George said afterwards: “It was a of crowds. This all makes it worth A-T) and their Mum. Kay said: “We really good day out, I really loved it. And then there are the other went by public transport, which, seeing David Weir and Oscar people in the team. Natalie du with 2 wheelchair users, was an Pistorius – the ‘blade runner’ – they Toit (winner of 13 gold medals for experience in itself! Everyone had were great!” swimming) and Oscar Pistorius are inspirational. They have just done so well.” RideLondon 100 When she isn’t on the track training, Roxy is studying to be Prompted by the success of Team RideLondon 100 a teacher. She hopes to use Sky and the Olympics, the Mayor and it’s expected to the coming year, when there of London – with the help of Team become an annual are no major international GB and the organisers of the event. We will be sporting events, to complete London Marathon – has set up asking all place her postgraduate certificate of the first ever closed road cycling holders to raise a education so that, once the Rio event in the centre and surrounding minimum of £600 Paralympics are over, she can areas of London. Starting in the in sponsorship. We start looking for a job – perhaps centre of London, professional and will be participating overseas. amateur cyclists will ride the 100 alongside our two mile challenge on the same closed partner charities – But Rio is firmly in her sights. roads as the Road Race for the Action for A-T and She tells me that her times are 2012 Olympics. Sparks – who will also be raising continuing to improve, so I ask funds for A-T research. The Sparks her when cyclists reach their Taking place on the weekend of event team will be running the peak. “Late 20s.” she tells me. the 3-4 August, the ride will start in administration for the event. “So you’ll be reaching your the new Queen Elizabeth Olympic peak about the time of the Rio Park, following roads through the There are some great incentives for Paralympics?” “I guess so.” “Well, capital into Surrey’s picturesque taking part in the joint charities A-T you’ll have a huge fanclub by that road and hills. The route is RideLondon 100 team, including time”, I tell her, “and we’ll all be designed to be challenging but also a Tour de France jersey signed expecting you to perform. There’ll rewarding for all those taking part. by Gold Medal winner Sir Bradley be a lot more pressure!” Roxy Wiggins. We’re hearing rumours of just smiles. You wouldn’t bet The A-T Society has 18 places other incentives to make you itch to against her... available for the inaugural take part... you heard it here first! 14 People A-T Society News

Unravelling the secrets of A-T

William talks to Yossi Shiloh, who is best known for leading the team that identified the ATM gene

Yossi Shiloh’s name will be familiar to everyone whose life is affected by A-T. Yossi (a diminutive for Yosef) is best known for leading the team that in 1995 identified and cloned the ATM gene, mutations in which cause A-T, and showed that ATM was the only single gene responsible for the disease.

However, over the years Yossi and his team have done a huge amount of work to explore the role that the product of this gene – the ATM protein – plays in the cell and how its absence contributes to the clinical effects of A-T. In fact, as he made clear when I spoke to him, unravelling the secrets of A-T is his life’s work.

And Yossi is deeply serious about this work. As an opener, I asked Yossi talks to an A-T family at the Family Day in June him how he would describe what he does to someone at a dinner I ask him what first got him wanted to work on it.” party who didn’t know him. He interested in A-T. Like many other launched into detailed discussion A-T specialists it was contact with This complexity led to some of his work and 10 minutes an A-T family: “I had just finished real challenges. There are a later was still talking. And yet my Masters and was looking number of conditions where everything he says is beautifully for a subject for my PhD thesis. the same symptoms can be clear, even to the lay-person. My Masters mentor, Professor caused in different patients by He has a gift for explanation Maimon Cohen, who was mutations in different genes. and illustration that hints at the interested in A-T, asked me to join This usually happens when the sharpness and clarity of the mind him on a field trip to visit a family proteins encoded by these genes beneath. with A-T. This was the summer of work together in a particular 1977. We visited the family, who process. If any one of the genes Based in Tel Aviv, Yossi works were of Moroccan-Jewish origin. is mutated, the process will be closely with the team at the Israeli They had 10 children, of whom affected, leading to the symptoms National A-T Clinic. Israel is an four had A-T. The huge personal of that particular condition. interesting country with regard impact of the condition on their Thus, although in each affected to A-T. There are a number of lives made a real impression on family only one gene is mutated, different communities within the me personally. different genes may be defective country where A-T is found more in different families with the very frequently than normal. As a “At the same time I was fascinated same disorder. result, Israel has a higher number scientifically. It was already of cases of A-T than you would known that A-T was caused by Yossi continues: “Some very expect for its population size. mutations in one gene and it was meticulous work done in several And, being a small country with clear to me, from the range and labs appeared to show that A-T a unified health service, most of complexity of the symptoms of was this sort of condition. It was these patients are in close touch A-T, that this gene had a very widely accepted that there were with the national clinic. important function. I knew I four separate A-T genes – known A-T Society News People 15

as A-TA, A-TC, A-TD and A-TE. check out the possibility that this by ionising radiation. Yossi is A major breakthrough took place was not one of four A-T genes but increasingly convinced that ATM in 1988 when the A-TA gene was rather a single gene, which was is involved not just in the cellular localised by Professor Richard mutated in all families with A-T. response to double-strand breaks Gatti’s team at UCLA, to a specific We decided to do the latter. We but also in other processes. “We chromosomal region on human looked for mutations in this gene think it plays a role – maybe not a chromosome 11. Our group was in other A-T patients representing direct role, but a supporting one – then able to show that the A-TC the three other supposed A-T in dealing with other forms of DNA gene, which was thought to be genes – and found them! We damage. There is also increasing mutated in the Moroccan Jewish therefore concluded that A-T was evidence for the involvement of families, was localised in the caused by mutations in one gene ATM in processes outside the same region. Subsequently, it alone – the one we had identified. DNA damage response arena.” became apparent that all four We called it “ATM”, which stands A-T genes were located closely for A-T, mutated. together on chromosome 11. We concluded that A-T Identifying the gene for what was caused by mutations “This led to a long period turned out to be such a large of intensive work in many and important protein was a in one gene alone – the laboratories involving highly prestigious achievement. one we had identified. considerable international It also marked a major step cooperation. This cooperation is forward in the journey towards We called it “ATM”, which most notable, since it accelerated understanding A-T. Importantly, it stands for A-T, mutated. the efforts to identify the elusive meant that DNA-based prenatal A-T genes. Eventually our diagnosis and carrier detection laboratory was able to identify could now be carried out in A-T His team is also trying to establish a big deletion in one of our families around the world. new mouse models that show candidate genes in a big Arab the neurological problems typical A-T family. The deletion was For Yossi and his team, though, of A-T patients. This is crucial associated with the disease and, it also meant a change of focus. if we are to be able to test new in all the patients in this family, it Now that the gene had been treatments. was found in both copies of the identified, they increasingly turned corresponding gene. Since this their attentions from molecular So what approaches does Yossi family was known to represent genetics to protein chemistry, think are most likely to deliver a mutation in the A-TA gene, we as they tried to understand the effective treatments? He believes assumed that we had identified complex role played in the cell by that the one his laboratory is this gene. the ATM protein. And complex it taking is a promising one. It is is. ATM reacts with hundreds of based on a search for small “We had to decide whether to different proteins and modifies molecules that can compensate publish this finding as a discovery their activity or stability. This gives for the loss of ATM. “We have of the A-TA gene, or go on to the growing community of A-T been conducting a drug search, researchers around the world in collaboration with the National plenty to work on. Institutes of Health in the USA, screening hundreds of thousands I ask what his current priorities of small molecules. Cells from are? “Continuing basic research A-T patients are treated with DNA into ATM and ATM-related damaging agents that activate processes. We have several ATM and then are exposed to students working on the function these molecules. We look out for of ATM in the cerebellum. Our molecules that appear to allow thinking here is in a process of A-T cells – which usually do not transition, based on accumulating respond well to this challenge – to evidence.” respond better. We are currently analysing the results.” ATM’s best documented function is mobilising a complex network of ATM is a member of a family responses to an important form of of proteins with distinct but damage to DNA called a ’double- strand break‘, which is caused Continued on page 16... 16 Research A-T Society News

Continued from page 15... A-T patients, where it is precisely other outlets, because as a the stability of their DNA that is scientist he is very focused. When compromised, are likely to be I ask if he has other research overlapping functions. Their hope particularly vulnerable to this.” interests beyond A-T, the answer is that it may be possible to use is ‘no’. “I did when I started the a small molecule to stimulate It is hard to imagine Yossi not lab. A-T was just one of four one or more of the proteins being a scientist, but out of research projects. But after Dick with an overlapping function to curiosity I ask what he would like Gatti’s initial localisation of the compensate for the absence of to do if he weren’t doing science. gene it became clear that it would ATM. He pauses... “A conductor – be a long and demanding project, conductor of an orchestra,” he so we stopped all the others.” However, the problem with small says. I assume that this means he molecules is that they usually must play music himself, but no: So what keeps him awake at affect more than one process. So “When I was young, I used to play night? “I sleep fine at night”, he even once you identify a ‘hit’, i.e. the flute”, he says, “but I really tells me, “but I do wake up early. a molecule that seems to have wasn’t very good. However, I love I love the beginning of the day. I an impact on the A-T cell, you listening to music – especially jump up and the first thing I do is have to try and understand how watching concerts and operas on take a quick look at PubMed (a and why it does so and there may DVD.” database of biomedical literature) well be a lot of complex chemical to see what’s new in the ATM manipulation to do to try and So what would he most enjoy world. I do that before I find out, prevent side effects. conducting? He thinks about it. later during the day, what is new “Mahler symphonies. That is what in my own lab. But I love that time What about approaches like I have most enjoyed listening of the morning, when it’s still quiet gene therapy? “I am not sure to in the past few years. Just and you can read and think.” that it will be very easy to get recently my wife and I attended gene therapy to work for A-T. an incredibly exciting concert in And finally, I ask him what There are enormous technical Barcelona, with the San Francisco message he might have for problems to overcome. Since the Symphony Orchestra playing people living with A-T. “The same most devastating effect of A-T Mahler’s 6th symphony. It was as it has been for many years. We is on the nervous system, this is almost a religious experience.” have to study and understand the what we need to correct first. In disease and then, based on this, principle, it can be done, but there But it’s not just concerts. Yossi hopefully we, or others, will be are big challenges in introducing enjoys all the performing arts: able to design treatments.” a gene into the large number of theatre, opera and dance – cells that make up the nervous modern dance in particular. “Tel This might not be the sound-bite system. And once it is there, you Aviv is a fantastic city in that that people living with A-T are have to control where it ends up. regard,” he says. “It offers an hoping to hear, but as long as Uncontrolled manipulations of enormous amount of culture.” Yossi is working on it, we can be the DNA in tissue cells may lead confident that progress will be to unwanted consequences. And It’s fortunate that he has these made. Betamethasone study update

In the last edition of A-T Society as the dose used in an open study While this is positive, participants News we published an interview published by Broccoletti in 2010. on the trial did also start to with Luciana Chessa. In August exhibit some of the side effects of she was one of the authors of The study showed significant prolonged steroid use. a paper reporting the results of improvements in the participants a trial of double-blind placebo scores using the ICARS scale. The authors conclusions are: controlled trial using oral This is a scale used generically “Oral betamethasone could be betamethasone. to assess ataxic symptoms in a promising ataxia symptom- a variety of conditions, and it relief therapy in A-T patients; The trial involved 13 children must be pointed out that most however, larger-scale studies between the ages of 5 and 16, all people with A-T show a range of are warranted. Long-term of whom were able to walk. The neurological symptoms in addition effectiveness and safety must be dose used was low, but not as low to ataxia. established.” A-T Society News Research 17 A-T Neuroscience Forum in Washington

In early November, 60 experts in neuroscience and A-T came together in a hotel in Washington to review the current state of our knowledge of the neurological aspects of A-T

The aim of the forum was to identify about how and why A-T affects the most promising avenues for the parts of the brain that deal developing new treatments and any with movement. However, this obstacles that are preventing the is also true for many other much discovery of new approaches. more common diseases affecting movement, such as Parkinson’s or Organised by the A-T Children’s Motor Neurone disease. There is Project, this was not a traditional much that we can gain by working scientific conference with formal more closely with those studying presentations. Each session took these other conditions. the form of a series of chaired discussions with a panel of experts On the positive side, some for each subject with knowledge excellent imaging work is now not just of A-T but also of other being done by Norah Volkow in conditions and scientific techniques. Bethesda, USA, which is starting to Brad Margus, A-T Children’s Project This refreshing approach enabled show differences in activity in the information and ideas to be shared different parts of the brain between hope. Again, while there has been and tested, and allowed many people with A-T and others. Similar some good progress, there are still voices – including those of people work is being done in Brisbane and many challenges to overcome. You living with A-T – to be heard. we hope to fund a new imaging can read more about these in the study to complement these in interview with Yossi Shiloh on page Brad Margus, chairman of the A-T Nottingham next year. 14. Children’s Project, hosted and chaired the whole forum. One nice Another area which seems to There is also positive news about touch was that he asked members have good potential is the use of the development of animal models of the panel for each session to ‘neurotrophic’ and growth factors. for A-T research. One of the sit on the stage in wheelchairs. As These are substances produced problems facing researchers is that Brad said, we should never forget by the brain which help brain cells mice which are bred to produce why and on whose behalf we were to grow and flourish and protect no ATM do not show the same all here nor the urgency of finding them from damage. Studies in neurological problems as people treatments and a cure for A-T. Parkinson’s disease have been with A-T. However, one team in done and are showing some America thinks they may have The subjects discussed covered promise and this is an approach found a way to breed mice that do, a wide range of issues, including which should be looked at for A-T. and a team in Australia is making animal and cell-based models, good progress with ATM-deficient oxidative stress, inflammation, stem A number of different researchers rats. There is also now a strain cells, gene therapy and neuro- are currently producing stem cells of fruit-flies that are A-T deficient. circuitry. This gives some idea of which can be used to gain a better While this may sound odd, fruit- the wide scope that there is for understanding of A-T and to test flies can be extremely useful for developing treatments for A-T. potential treatments and drugs. research, and have the advantage However, the prospect of being able that they can be bred very quickly. There is clearly a lot of work going to use them to replace damaged on in all these fields and much cells in the brain is still some way All in all, then, it was an extremely progress being made. There off. Stem cells, though, have many useful event, which has raised the were a lot of interesting ideas and properties beyond that of creating profile of A-T within the research suggestions for new research. other cells, and there is potential community and should give a new Nevertheless, the prospect of a that they can be used much sooner impetus to research and encourage rapid break-through still feels just for their ability to strengthen and new projects and new collaboration. beyond our reach. protect existing cells. Brad and his team at the A-T Children’s Project are to be thanked Part of the problem is that there Gene therapy is another area that and congratulated for their efforts in is still much that we don’t know many people are looking to with putting it on. 18 Fundraising A-T Society News

Busy busy busy! Where have the past few months gone?

The A-T Society was introduced to many delightful new fundraisers during 2012, and the 2013 calendar is filling up with exciting events, many of which you can get involved with or be inspired by.

We are big fans of BBC choirmaster Gareth Malone, so it was exciting to learn that the Military Wives will be performing at a Ball in aid of the Society in the early part of the year. We’re also hoping to gather a lot of interest for Dragon Boat racing at various venues around the country.

There should be some strong media coverage for the Mega-Tri in April and we have a journalist working with us to try to place some awareness-raising articles in the national press and various magazines. If you have a story you would like to tell, please let me know.

It’s great to see so many families and supporters requesting collection pots to place around their local area. If we can get enough collection pots on shop counters, we have the potential to raise enough each year to cover the cost of an additional medical research project. Can you help every parent’s dream come true?

Finally, we have a new permanent member of the fundraising team. You can read all about Atey Bear in his own words on the back page; please give our latest recruit lots of support in the coming year!

Suzanne

Tough Mudder Not to be outdone, Paul Gordon and his friends took on the ‘Tough Mudder’ – a 10 kilometre race through mud, cold water and general filth.

We applaud their determination to make the world a brighter place for everyone with A-T, and send our commiserations to whoever had to do the washing afterwards!

Larkfields School, Nottingham

This is Kaid with his teacher Mrs Headteacher Mr Taylor thought Parnell and his teaching assistant it would be a good way for the Miss Wright from Larkfields Infant children to learn about A-T and School. have a greater understanding of the condition before Kaid started at Even before Kaid started at the school. Larkfields, the school chose the A-T Society for their Charity of If you would like to get your school the Year and donated a whopping involved, please contact Suzanne £1,603.15 to the charity. for information. A-T Society News Fundraising 19 Worldpay: an action-packed year for A-T

A round-up of the amazing fundraising activities the Worldpay team have got up to this year

The A-T Society came to be the Worldpay Cambridge Charity of the Year after a determined campaign by Lexy Morgan (a friend of Jo Betts) and Alan Staples – who was working for Worldpay and supports the A-T Society with his IT skills. Sarah Jarvis, Worldpay’s charity coordinator, gives an overview of their charity activity this year: The brave skydiving team prepare for the big jump...

In February we kicked off our fundraising with a quiz and Mardi the A-T Society Family Weekend. October dawned bright and Gras pancake fiesta. We found I went along with my husband beautiful and 14 intrepid staff out early that the way to our Peter to escort the brilliant made the short journey to colleagues hearts is via their Charlie and Arthur to Duxford on Chatteris in Cambridgeshire stomachs and have maximised the children’s outing, and Lexy to take part in our first tandem this information (along with their Morgan was there to escort Kaid parachute event. With blue skies waistlines) throughout the year! Betts and his brother Ben. and a light breeze it was the perfect day for skydiving and the March saw us taking advantage of As June slipped into July, we gave event really brought us together the Cheltenham Festival and as Sir Alan Sugar a run for his money as a team. avid virtual race-goers we tipped with the A-T Society Challenge. our way to success. Three teams were given one As October drew to a close, Rob month and £50 to raise as much Honour launched the “Comfort April saw an Easter raffle and yet money as possible. The teams Cafe Cruiserz Car Club” based at more turf-inspired fundraising with raised a whopping £1,722.55 Abingdon just outside Cambridge. a Grand National Sweepstake. By between them by selling We provided a stall of A-T June, the Jubilee fever took hold homemade cakes, dosa batter, merchandise and were thrilled and we hosted a mammoth tea pizza, strawberries and ice cream that William Davis was able to party, selling plates of homemade and sloe gin. They also organised attend. cakes, savouries and sandwiches a quiz, Euro 2012 sweepstake, with great success. pool competition, raffle and The tail end of the year will see a international food fair. craft fair and Christmas raffle. It was great fun and very inspirational to be able to support July also saw us field a team of The staff really got behind the six in the British 10K London Run A-T Society in 2012, taking the and then, just two weeks later, children and the cause to their we got on our bikes in a team hearts. We already know this is of 11 to take part in the London our best ever Charity of the Year to Cambridge bike ride. Several total and it’s a huge achievement people took part in both events for us. and were super fit by the end of the month! However, we’re not letting on just how much we’ve raised quite yet. In August we celebrated the That’s a secret we are keeping ‘summer’ with a Golf Tournament until our James Bond-themed at the Cambridge Lakes course, Presentation Night in January and in September we had another, 2013 when we will surprise larger, general knowledge quiz William, Suzanne and Kay with a The 10K runners event. cheque! 20 Fundraising A-T Society News Raising funds and awareness

The Clarke Willmott team in Bristol have gone to great lengths to support the A-T Society

Our two-year Charity Partnership with renowned law firm Clarke Willmott LLP’s Bristol office officially began in January 2012 after lawyer Philippa Hann nominated the A-T Society and mounted a strong campaign to see us adopted as one of two charities to receive support until 2014.

Philippa is a close friend of A-T mother and trusteeTania Wheeler, and was determined to raise funds and awareness for A-T throughout the company and further afield through their links with individuals and businesses throughout the South West. The Clarke Willmott Monopoly Challenge Clarke Willmott has an established Charity Committee generous and supportive of our also pleased to be part of the and a strong background in charities. Family Weekend when one of our corporate social responsibility. solicitors, Robert Smeath, gave This is a summary of their We also held a quiz and raffle his professional advice to families accomplishments so far from one in March. We pitted our minds who wanted to learn about making of CW’s A-T Society champions, against each other with music, wills and provision for the future Catherine Zakarias-Welch: geography and picture rounds to of their children, and our graphic name but a few. designers, Minty Design, created In March we hosted our Virtual a flyer for Trevor Sanderson’s Cheltenham Race Day. Clients May 2012 saw another fantastic Marathon des Sables. and contacts joined us for an Bristol 10k and the Clarke Irish-themed, three-course lunch Willmott Business Challenge. Two In June we also hosted the followed by an afternoon watching teams from the Clarke Willmott opening England Euro game (on the racing. Bets were placed with property litigation team took part television) in Bristol, Birmingham our trainee solicitors who each for the A-T Society. Kevin Jones, and Taunton. Each office saw took a table and looked after the head of the Bristol office, said: good attendance with clients and bets. Guests were extremely “The CW marquee was, once contacts enjoying an evening again, a hive of activity. It was a of networking over drinks and real focus point for runners and nibbles. Each office raised supporters. Well done to all!” money through sweepstakes and donations. The 12 month countdown to the Bristol 10k 2013 is now on… Philippa Hann took a short break from the office to prepare for the June saw Clare Norman and arrival of our youngest fundraiser, the marketing team volunteer baby Agatha, who arrived in early their support for the A-T summer. Never one to rest on her Society International Research laurels, Philippa used the time to Conference, as we assisted focus on fundraising plans for the William with organisational year ahead. support and lent our Clarke Willmott lighting the way administration skills. We were On 4 July 2012 we held a A-T Society News Fundraising 21

Pampered Chef event. Imagine came to bribes), raising nearly if you will the Generation Game £1,000 for our joint charities in (but without any cuddly toys), just one day. Teams were very Catherine MacMillan was competitive, some tactically our skilled professional from aware. During the basketball Pampered Chef and, one by challenge some teams impressed one, the audience was asked to with their ingenuity. Some chose participate by attempting to do to throw in a different approach the same. There was chopping, to the traditional way, others tried cutting, peeling and preparing to distract the scorer using their scrummy treats for the rest of us Olympic torch, buying them drinks to enjoy. No aprons were involved and bribing with cash. Other but we managed to keep it (fairly) teams stole opposing team’s The CW boys at the Bristol 10k run clean and without chopping torches, stole the balls and even off a finger! Funds were raised took the signs down. sum we are through orders of Pampered Chef all incredibly products and a raffle. We feel it is important to use the proud of. 2013 skills we have as a company will see teams In July 2012 we held the third to offer help and support to our taking part Monopoly Challenge evening charity partners, and it was with in the Bristol in Bristol. Fourteen teams took great pleasure that Liz Smithers, Half Marathon, part in numerous challenges a partner specialising in Wills and Triathlon and following a CW Monopoly board Trusts, wrote an article for the Dragon Boat which took them to four pubs summer edition of A-T Society Race as well en route. Challenges included News. as numerous building an Olympic torch, lego other team Lawyer Philippa Hann mascots (see pictures on opposite As we move towards the end events and page), general knowledge quiz, of the first year of our charity individual basketball and table football. partnership, we anticipate the fundraising endeavours. It feels staff of Clarke Willmott’s Bristol really good to be helping children Teams were, as always, extremely Office will have contributed over with A-T right now, and giving generous (especially when it £9,000 to the A-T Society. It’s a hope for the future.

Media babe

When Jo Bloomer received her One of the people who read daughter Lola’s diagnosis earlier the article was comedian Brian this year her whole world turned Conley who was performing in upside down. Jo decided that the Plymouth at the time. Brian was best way to cope was to tell all so overwhelmed by Lola’s story her Facebook friends and to that he arranged to meet her actively raise awareness of A-T and, having done so, pledged locally. to perform in a special charity show with the cast of Oliver! Within days, a number of friends raising money for the A-T had offered their help – both Society. practically in terms of emotional support, and financially by making The performance took place in donations – and starting to early September at the Theatre fundraise for the A-T Society. Royal, Plymouth. As he opened Jo Bloomer’s story the show, Brian announced his shows how big little acorns can Jo was invited to do an interview intention to become our new grow. She has fantastic support with the Plymouth Herald Patron and committed to do as in her local community and there newspaper and, subsequently, her much as he could to spread the are a number of fundraising moving article was repeated in the word about A-T (you can read events planned for the years Daily Express and the Daily Mail. more about this on page 7). ahead. 22 Fundraising A-T Society News

Extraordinary people Pentagon Shopping Centre Vaughn and Jo Rawson from Wrexham, North Wales are the kind of big-hearted friends no A call out of the blue was the person should be without. In prelude to an exciting invitation to April last year they hosted the become the Charity of the Year for first A-T Spring Ball at Chester the Pentagon Shopping Centre in Racecourse. This spectacular Chatham Kent. night was a towering success and they lost no time in The vibrant shopping mall has organising the 2013 event five major events each year and which now has a waiting list the management team are keen for tickets. for the charity to be represented there as frequently as possible Not one to rest on his laurels, throughout the year. dynamic Vaughn wanted another challenge. Working in tandem We are asking our Kent families to with Expedition Wise of Chester, each take on one day during 2014 he is organising and taking part to help us with fundraising at the in a London to Paris cycle ride in Pentagon and we hope you will June 2013: to raise funds for our love you to join the team and support us to make the most of joint research fund with Sparks you can contact him via the A-T this fantastic opportunity to raise and Action for A-T. Vaughn would Society to reserve a place. money and awareness of A-T locally. Please contact Lian Yarlett to book a convenient date. London to Paris cycle challenge London Marathon The three-day London to Paris Runners challenge will see you cycling through the beautiful countryside Thanks to a determined campaign of Surrey, Hampshire and by A-T mum Tania Wheeler, we Normandy. Rather than the normal have been given three London Dover, Calais route, you will be Marathon places by Sparks for taking the ferry from Portsmouth 2013, which along with our own to Caen. You won’t be short of silver bond place gives us four A-T spectacular sites, either, as you Society runners. We would like to will pass through Hampton Court introduce you to: and finish up in the shadow of the Eiffel Tower. Graham McIntyre, from our Charity of the Year partners, Clarke The challenge starts on Friday Willmott, Bristol, Ian Barnes, a 7 June and finishes on Sunday solicitor from Wrexham, Vera 9 in Paris. After an evening of Hall, also from Wrexham and celebration in Paris, you will return finally James Sloan who works in to London by Eurostar on Monday Manchester. 10th. Each runner has made a You can find full details of the commitment to raise a minimum of itinerary at www.atsociety.com/ £2000 for the A-T Society and we cycle-events. There are about 20 send them our very best wishes for places available. Because of the their training and the race. If you cost of organising the trip, you would like to show your support will be asked to commit to raising and appreciation for our runners a minimum of £1,700 for this you can find their fundraising adventure of a lifetime. pages on Virgin Money Giving. A-T Society News Fundraising 23

New fundraising video Spreading the

The Paralympics opened minds to word ‘ability’ rather than disability and the young people who took part in Peter Brady is a postman in the Glee performance at the Family Manchester and is on a mission Weekend played their own small to see A-T wristbands worn by part in changing attitudes. everyone he comes into contact with. Starting on a small scale We felt it was important to record in March, Peter sold 30 bands the event, and as digital media to his colleagues. At the time of is the way forward in raising writing, Peter had sold over 1,000 awareness and advertising the wristbands at local pubs, clubs work of the charity and the amazing and events and has no intention young people we work with, we of stopping until Manchester is a were delighted to receive support sea of purple, pink and blue. Peter from Simon Greene Associates and received more than 800 views on said: “Every band I sell means I’m Brightspells to make this happen. You Tube. The other longer film giving children with A-T a chance, is a mini showreel created as a I’m not going to sit on my hands The outcome is two fabulous new reminder of a wonderful day for the and do nothing if I can change videos, one is a ‘commercial’ length families. You can find both videos things for the better”. fundraising video and has already on You Tube. If you are around Manchester and spot someone wearing an A-T wristband, please snap a picture Glenday and the Hiel’ and Toe Club and post it on our Facebook page.

Glenday Thomas has been a and entertaining show. If you want to “change things supporter of the A-T Society almost for the better” like Peter, please since the charity was formed. She’s 2012 was described by the contact Suzanne for information. a passionate exponent of Scottish audience as ‘the best ever’ and dancing and shares her enthusiasm Glenday spoke movingly of her with her students and friends in the experience of A-T and why raising local ‘expat’ Scot community. awareness is so important to the Charity bar charity. For the Society, Glenday’s Every other year, Glenday produces support and that of her husband Jen and Bob Owens ran a Charity the show “A Measure of Scotch”, Michael and friend Robert Hedger bar at the Durberville Village a feast of Scottish heritage. The – who donates the profit from sales Hall, Dorset on 11 November. It Alban Arena, St Albans resounds to of his cards and prints – has been was a fantastic musical evening. the skirl of the pipes and the swish a cornerstone of fundraising for Reg Foy of Crackerbang of tartan as singers, dancers and almost 20 years. Thank you for all Entertainments set up a Neil musicians come together for two the energy and devotion you put Diamond Tribute Evening and performances of this remarkable into supporting the A-T Society. Grandad David Owens was in charge of the teas and coffees. Through the generosity of the people of Wool, the family raised £227.

Please look out for our networking questionnaire online, if you complete it and send it back to us, it might be just what we need to attract some exciting new corporate support. 24 Fundraising A-T Society News The kids are united Chris Wooster – Kaycee and Sadia Harpenden Kaycee Carrington and her friend Chris explains “A Sadia Islam (pictured right) did group of friends and a fundraiser at their local Asda I at Sir John Lawes store. You can follow Kaycee and School in Harpenden Sadia’s example by contacting your were chosen to local superstore and requesting a present an assembly collection day. to the whole of our year. We decided to do our Junior Great North Runners assembly on the A-T Society. Jasper Metcalfe and George Spink, aged 11, took part in this race for One of the main reasons we the first time and raised over £3,000 decided to do this was to raise with their determined fundraising Kaycee and Sadia awareness for the charity as it is campaign. Thank you to everyone not very well known. During the who sponsored the boys! assembly we gave an outline of the disease and how the A-T Society Magnificent Maguires helps people with A-T, and their The letter which went out to whole families. We also advertised fundraisers with the summer ‘A Measure of Scotch’, a show newsletter really caught the which raises money for the charity imagination of the Maguire family and which I have been involved in of North Wales. We had this since I was four years old. email from mum Germaine whose cousins have A-T: After the assembly, we were approached by the school’s “The Maguire children have been learning support team who wanted busy thinking of things they can do more information about the charity. to raise funds since reading your As a consequence, our school is letter and some of the fantastic now supporting the A-T Society articles in the magazine. by donating a portion of money it Poppy with her bike collects on fundraising days such Poppy (aged 12) decided that she as ‘Jeans For Genes’ to the charity. would like to do a sponsored bike Also, a lot of teachers came to the ride. She rode a very windy uphill show, which helped support it and 26 miles with her grandad and will meant that once again it was a be sending her sponsor money great success.” soon.

Lucy (aged 13) did a sponsored read. Lucy is severely dyslexic and so this was quite the challenge for her. She read four whole books over four weeks and wrote a review on each book. Lucy also held a cake sale at Rydal Penrhos School Lucy did a sponsored read and raised a super £192! be in touch with that another time. Harry (aged 10) didn’t want to be The kids may only raise pennies left out and has decided to do a but it is all money in the pot and it sponsored swim (following in his big gets the word out there.” brothers footsteps – Harvey!) We aim to fit this in over next couple of We would like to say a huge thank weeks giving Harry a chance to get you to the Maguires for being such some sponsors. Finally, Charlie has an inspiring family. You can read Junior runners Jasper and George something up his sleeve and we will their stories in full on the website. A-T Society News Fundraising 25

Mega –Tri for Lola Update

In April 2013, a team of 25 has set their fundraising target at men and women coming from £100K! Singapore, France, Ireland, Australia, the Netherlands and But that’s not all! Members of the UK will embark on a mega- the team have been fundraising triathlon. The event will start at well ahead of the event. Arnaud 6am on Saturday 13 April at the Selukov, who is based in Life Centre swimming pool in Singapore, raised sponsorship Plymouth with a 2.5 mile swim. by participating in the Hawaii The team will then cycle 220 miles Ironman Triathlon World along the South Coast to Brighton, Championships He swam 2.4 arriving in time to run the Brighton miles, cycled 112 miles and ran Marathon on Sunday 14 April. 26.2 miles in an incredible 9 hours Team leader Kevin McGregor and 33 minutes, and achieved 11th in his age group.

Kirsten Koh lives in Tasmania and set herself a three-hour static cycle challenge. Kirsten was critically injured in 2011 when she was hit by a truck and, after numerous operations and a long period in ITU, is fighting her way back to fitness. You Arnaud Selukov can read her incredible story at www.truecoloursfoundation. Tri team along their cycle route com/kirstens-story. Kirsten and along the south coast from her best friend Orla Gilmore Plymouth to Brighton. Precise are planning monthly events in route details will be available preparation for the Mega-Tri. nearer the time. Please bring your families and friends out and give How can you get involved? We this phenomenal group of people want as many people as possible your support. Contact Suzanne for Kirsten Koh to turn out and cheer the Mega- further information. Grainger PLC Altringcham

Members of staff from Grainger Plc in Altrincham completed the North West Relay Triathlon in September and raised £2,045 for the A-T Society.

The teams were made up of Phil Nelson, Simon Aldridge, Melissa Elliott, Emma Burdge, Louise Spooner and Claire Henry (who competed as two relay teams) and Mark Weeden (who very bravely undertook the challenge by himself).

(Right: the Grainger Plc team!) 26 Fundraising A-T Society News

The Marathon des Sables Trevor Sanderson has transformed fundraising the Marathon des Sables into something close to a military campaign. With partner Hayley firmly on side, he has organised events, collections and sales opportunities every month since he booked his place. Trevor’s target is £20K and he Running for A-T is looking for corporate and community sponsorship to make Jordan Button of Nottingham this happen. Trevor has asked us jumped in at the last minute to to thank everyone who met and take place in the British 10K sponsored him when he spoke at London Run in July. The race had the Family Weekend, and looks over 33,000 entrants who braved forward to going beyond the call of appalling weather to take part. duty for the A-T Society. Jordan, who works for Nobel Foods (creators of The Happy Egg Co), said: “Nobel Foods believes it is important for their staff to fundraise Fall Family Fortune and raise awareness for charities. To encourage this, they very kindly Helen and Tony Fall organised a match 50% of the employee’s total Charity Dinner at the Pavillions, fundraising to a maximum of £500. Harrogate and raised £2,000 as Because I was able to raise a well as lots of local publicity for brilliant £1,200, they contributed an A-T. additional £500, bringing my total up to £1,700. I would like to thank Thank you Helen and Tony – and them massively for this donation, all who donated! and for allowing me to share information about the A-T Society.”

Action at Asda Collector’s item

Do you or your friends work Gulsen Deren lives in Kent and is for Asda, First Group or any mum to Ahmet aged 16. She said: other company which actively “The A-T Society has been so good supports charities or has a to me ever since Ahmet’s diagnosis. charity of the year? Many I don’t work and my own health isn’t companies ask their employees very good, but I wanted more than to choose the charities, and we anything to give something back. would love you to help us get I talked to local shops, cafes and involved. businesses about the charity and before I knew it they were all filling You can also nominate the A-T collection pots for me. The money Society for the green token is coming in, but the best thing is community fundraising at your that more people know about A-T local Asda. Simply fill in the and want to support us. It’s such form and hand it into Customer a simple way of raising money Services. and awareness and it feels great because I know I’m helping despite all the other challenges in my life. A-T Society News Fundraising 27

First fundraiser

Brian Sewell and Siobhan Kelly held their first fundraiser, raising Scotland’s brave more than £2,000 for the A-T Society. Hundreds of family and men friends attended the event in Croydon. A natural! The Brownlie children were the motivation to get men on the run Manchester United defender Rio Sorrell Hodgson took up running across Scotland this year. Grandad Ferdinand donated a signed shirt just a few months ago.. Martin Doherty took on the Great along with Chelsea Football Club Scottish Half Marathon, while cousin who sent a shirt signed by the She did a very respectable time in Martin Cairney and friend James team. Both items went into a charity the Robin Hood half marathon and Miller did the Great Scottish 10K. auction. raised money for A-T!

Graham High – Sea Passages

Artist Graham High, whose Olympic saddle stepson has A-T, recently held Student helpers an exhibition at the Institute of cloth donated Physics in London. Hertford Regional College provided the student helpers for the 2012 Nicola Wilson, a member of the Entitled Sea Passages, the Family Weekend. The students Olympic Equestrian Eventing pictures were based on his love were so excited about their work team, has donated a saddle cloth of the sea and landscapes of the with us, that they chose the A-T signed by many members of the North Norfolk countryside where Society as their charity for 2013. medal winning team, including Zara he lives. Graham very generously Tutor Denni Morrison says they Phillips. donated a significant part of the have lots of events planned and price of the paintings he sold to she hopes this will be an enjoyable The Saddle Cloth will be auctioned the A-T Society, raising more than year for everyone involved. in Yorkshire. £1,400. 28 A-T Society News

Film review: Untouchable

By Rupert who just do their job and nothing disabled person myself. After more than required. This fellow seeing the film, I breathed a big Untouchable has no experience and therefore sigh of relief, because in a way is a film about no preconceptions, so he tackles it represented quite well how I the relationship his role with a lot of energy from thought about my life and my carer between a square one. The first character life. It was an acknowledgement carer and does not know what to expect, so of disabled people’s lives, shown a caree. It he’s going to have to find out for as they are. This film could make explores himself. a difference to disabled people’s the taboos lives by promoting how carers associated with The disabled guy in the film has a could make life better for them. this topic, which is not very often big van he can put his wheelchair The impact of the carer gives the represented in films. into, but he also a sports car. The main character the drive to have carer tends to just carry him into fun, and the confidence to make it At the beginning, one of the the sports car, which is what he happen. two main characters, who is wants to do, rather than what he is disabled, lives in a care home, meant to do. Even though the movie is in and the main problem of a care French and it can be hard to follow home is one is told what to do. The carer gives him the courage the subtitles, it is not necessary in I’ve been in college, where the to meet in person a girl he has order to comprehend the action. relationship with my carers was met on the internet. The carer Think of silent movies and how really professional. In uni, there has serious issues with his family they show instead of telling. This was more freedom. Now, I can and, when he leaves, the disabled film also explains itself through finally choose which carers I want guy is on his own again and the actions of its characters rather and my carers do not necessarily understands that he is going to than weighty explanations. do the caring stuff only, but social have to do things himself. Before, stuff as well, which I prefer. the disabled guy didn’t know what Another interesting film on the was out there, but from their time topic is The Best of Men, about The second main character turns together he realises he can be how they came up with the idea of up as his carer, and he is the more active and live what they call the Paralympics. kind of person who does what a “normal life”. he likes to do. One wishes that Have you been inspired by a social services really worked like Untouchable was really interesting film, book or perhaps a concert? that, because there are carers and insightful to me, being a Why not send in a review! Introducing Atey Bear! We are delighted to introduce collecting outside supermarkets, a new and furry member of the because there’s always a chance fundraising team. Atey Bear. someone will come up to him and put a jar of honey or jam (he likes Atey Bear told us in his interview blackberry best) into his bucket. that while he is happy to do anything for A-T, even jump out You are likely to find Atey Bear of a plane, he’s happiest standing at the Pentagon shopping centre outside shops with a bucket. He in Chatham next year, where we enjoys it because children will often are Charity of the Year. But we come up and talk to him – which he are hoping to persuade him to really likes. He likes grown-ups too, come along to the Family Day in but finds them a bit scary... Manchester, and perhaps we might see him at other A-T fundraising He says he particularly likes events too.