ISSN: 1366-0209 August 2012 No. 45 A-T Society News

In this month’s edition

• The Family Weekend takes off at Stansted • Top tips from people with A-T and their families • How to protect your family and assets • Clinical Research Conference 2 A-T Society News A-T Society News Diary 3

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

The A-T Society was established in 1989 and is committed to helping, supporting and advising all people living Lian Yarlett, chairman of the A-T Society, looks back at a busy 2012 so far, which has included with A-T. The Society aims to improve quality of life and quality of care for people living with A-T while actively significant conferences, charity events, the Family Day and proposals by a new joint A-T fund 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. opefully the sun is shining We are very grateful to everyone Hwherever you are so that who has helped to make a you can enjoy reading this difference, and invite all of you information-packed edition of the to help us take on the challenges Newsletter. 2012 has so far been ahead for what is looking to be Editor’s Comments Contents packed with conferences and a really exciting time with many meetings, with the Family Day opportunities. Do have a think Many thanks to all contributors. The copy date being one of the main highlights, about what you might be able to for the next issue is 1st October 2012 along with charity events and do, who you might know, or might Please send comments, ideas, articles and 3-4 Diary Charity of the Year adoptions. not yet know, be it friends or pictures to: Lian Yarlett, chairman All this on top of the regular care companies. We can always help William Davis, chief executive services we provide! you with that first idea or make that first approach. Beatrice Prokofiev 5-9 News The conferences have led to 07841 485330 A-T in Morocco concrete collaborations and The Family Day is always a great [email protected] New partnership for A-T research sharing of information wherever event and we have received The Family Weekend possible, with the aim of some wonderfully positive and If you would like to receive this advancing research and our constructive feedback. This “Help us take on the newsletter by email as a pdf file, please 10-13 Support services understanding of A-T. year’s weekend was packed with challenges ahead for let us know. Voice recognition systems fun and information, and if you Top tips There is a big focus on missed it we really hope that you what is looking to be a A-T Society Protect your family and assets translational research – that is, will be able to join us next year – really exciting time…” IACR-Rothamsted Accessible holidays research which aims to develop the plans for which we are already treatments directly for the patient. working on! Harpenden, Herts AL5 2JQ 14-15 People Together with the advances in ‘My Life’ project laboratory-based work, this is all We are making a real difference tel 01582 760733, fax 01582 760162 Tom graduates in style helping us take strides towards to the lives of those affected by [email protected] Breathing training our aims and mission. A-T now and for the future… website: atsociety.org.uk Please help us to do more. Thank 16-19 Research The international research you. Registered Charity No.1105528 Clinical Research Conference conference we have just hosted Interview: Luciana Chessa has led to specific projects being Lian discussed or commenced, and a The opinions expressed in A-T Society News DATES FOR YOUR DIARY! are those of the individual authors 20-27 Fundraising number of interesting proposals for funding by the new the joint and not necessarily those of the 28 Why we made Wills ‘in trust’ – by an fund we have set up with Sparks Nottingham Clinic A-T Society. A-T parent and Action for AT. If your child has not been seen at our Nottingham Centre for at least 2 years, or your child’s condition has Cover picture: Children being entertained There is a huge amount of work deteriorated and you are concerned: you may wish to at the Family Weekend that can be undertaken for our book one of the available slots below: (please contact support and research but of Kay) course much of this is down to funding. Our care services and 15/16 November 2012 clinics give our children and 17/18 January 2013 young adults help, and I think this 7/8 March 2013 is really important. Some of the research also offers the chance Family Weekend 2013 of quite prompt outcomes, as Provisional date set for 22-23 June 2013 well as creating a basis for future developments. 4 Diary A-T Society News A-T Society News News 5

New partnership for Just William Remembering Paula A-T research William Davis, the Society’s chief executive, reflects on a successful and enjoyable Family It was with huge sadness that I heard Paula Hendrick has died after a Weekend and a Conference that has helped stimulate new ideas and collaborations short illness. Anyone who met Paula will have vivid memories of her – As mentioned in William’s diary, her humour, cheerfulness and warmth, not to mention her determination the Society has recently joined not to let A-T stop her from being the person she wanted to be and forces with Action for A-T and I write this with the memory of a group to map out priorities and living her life the way she wanted to. Paula’s positive attitude to life was the children’s medical research two highly successful events still likely avenues for future research. an inspiration to many – though her ability to be the ‘last-woman-sitting’ charity Sparks to establish a buzzing round my mind. The A-T in the bar at family weekends – “The night is young!” was her rallying dedicated fund to support A-T Clinical Research Conference But a conference like this will only cry – resulted in a fair few headaches and bleary eyes for the rest of us. research. The fund is offering 2012 in Cambridge brought have a real value if it changes an initial pot of £90,000 for together scientists, doctors and things; if it stimulates new ideas We are enriched by everyone we meet, but some people are particularly research projects leading towards researchers from around the and new research, gets people special, and Paula was one of those. I know that the thoughts, wishes treatments for A-T. world for two days of engaged working together, and so on. and prayers of many, many people will be with her family and I trust that discussion on the way forward for this will be of some comfort to them. By William Launching the partnership, William clinical research into A-T. And on that count, things are said: “Together we can make a looking good. Just 10 days after much bigger impact than we could Following straight on from this, the conference, I found myself at working on our own. Collaboration our Family Weekend saw another a meeting with three delegates A-T in Morocco is the only way to make progress huge turnout of families gather from the UK and Australia who with a rare and complex condition at Stansted to hear from leading had met at the conference. While to the best of our knowledge such as A-T and our three researchers and to network there is no organisation dedicated organisations are showing the and relax with others like We discussed how the latest to A-T in any Arabic-speaking way.” themselves. advances in MRI and imaging country, in Morocco there is an technology could help unlock active association supporting By pooling their resources in this There are more details about both the mysteries of how and why people with all Primary immune- way, the charities will be able to events later in the magazine but “I found myself at a A-T affects certain areas of the deficiencies, called ‘Hajar’. offer funding on a scale beyond I just wanted to share my overall meeting with three brain. We then mapped out a that which they could achieve impressions. proposal for a two-year research The Secretary of Hajar, a individually. It will also enable them delegates from the UK and project which would link with young woman called Bouchra to combine their fundraising efforts I will admit that I thought last Australia who had met existing projects in the USA and Benhayoun, has a daughter called for A-T research. Already, Sparks year’s family weekend at Australia. Rita who has A-T. Bouchra is in have very generously supplied Chessington had been a bit at the conference... We touch with around 30 families living both the A-T Society and Action for of a high-water mark and was mapped out a proposal At the conference, I also with A-T in Morocco, a country and to improve standards of A-T with three extra places each expecting this year’s event to be for a two-year research announced the new joint A-T where the challenge of living with a treatment and care. for the 2013 London Marathon. more low-key. Wrong on both research fund (see next page). disabling condition is considerable. counts! The prospect of hearing project which would link This was greeted very positively More information on their work is As a well-established medical first-hand from some of the with existing projects in and as I write this I have had The association is doing an available, in French or Arabic, from research charity, Sparks already world’s leading A-T experts and 12 expressions of interest in extremely impressive amount their website: www.hajar-maroc. has very effective materials and the importance of being able to the USA and Australia” submitting applications. of work to raise awareness of org. procedures in place for handling meet and chat to other people immune-deficiencies in the country and assessing applications for living with A-T meant we had more Our job now is to make sure that and to support the development of If you would like to talk in Arabic research funding and also for than a third of all the families in As to the conference, this was felt we turn these ideas into real a specialist centre at the hospital to someone who understands A-T, monitoring the progress of grants the UK together. by all those who spoke to me to projects and concrete progress. in Casablanca. They have also Bouchra would be delighted to do that have been made. They will have been a resounding success. However, this will require hard helped children with primary so and can be contacted either deal with Splitting the sessions over two The venue was excellent and the work and of course money. immune deficiencies to access through the website or via the A-T practical days seemed to work well, as it staff fantastic. This meant that information drugs and equipment Society. administration allowed for a relaxing evening in the delegates were able to put all Money is not that easy to come of the grants between. Kay and Suzanne did their energies into the conference. by at the moment and that means programme. a fantastic job in transforming They clearly appreciated the we are all going to have to roll UK A-T service promoted in Brussels a lecture hall almost magically format we had chosen, which our sleeves up and redouble our We hope to into the scene for a memorable allowed plenty of time for group efforts to raise new funds. In May, William presented a countries. The poster highlighted be able to ‘banquet’. And while the younger discussion at the end of each poster on the A-T service at the benefits for patients with announce the visitors were entertained by a session. But the good news is that there the conference of Eurordis, the rare diseases of having a patient first grants highly creative disco, the rest of are ideas, enthusiasm and a spirit European alliance of organisations organisation, like the A-T Society, in October us were able to sit around and The result was that instead of cooperation in the A-T research representing people with rare working in close partnership with 2012. chat with old friends or make new of just a series of individual community – and those are things diseases. The conference brought national expert centres, as we have ones. presentations, we were able as you can’t just buy. together 700 people from 55 in Nottingham and Papworth. 6 News A-T Society News A-T Society News News 7

take to treating these. She also Rafferty and Tania Wheeler bring a by Jo Wilkinson and Janine Family Weekend takes off at Stansted talked about the studies that they wide range of skills and experience Anderson from Brisbane. Others have done to try measure the and an enormous enthusiasm to stayed in the main hall for a More than 200 people affected by A-T gathered at Stansted in June for the annual Family Weekend development of lung pathologies. the Board. consultation event on what they felt that the Society should be focusing Kate Sinclair: described the After this, Bryony Beresford on. tansted airport is normally a work of the A-T clinic in Brisbane from the University of York gave Splace to get through as quickly and how this is closely linked to initial feedback on the My Life There was also the opportunity as possible when you can’t wait research work, in particular the project. This project has involved for people to make individual to be on holiday or to get home. tractography imaging that they are interviewing young adults with A-T or family appointments with our But in June, it was the scene of doing. She also underlined the between the ages of 16 and 26. counsellor Helen Hart; and also an amazing event: the 2012 A-T benefits of doctors and researchers The interviews have only just been with the solicitor Robert Smeath Society Family Weekend. working together and sharing completed and the information of our corporate sponsors Clarke information and the impact this has will be collated properly over the Willmott, who was providing After last year’s huge gathering had in other conditions. summer, but it looks as if it will be professional advice on making wills at Chessington, we had expected extremely interesting. and trust-funds for children. a fall in attendance– but no, once Their presentations were again we had over 200 people from Speaker Karl Herrup filmed and can be seen on our Bryony’s presentation was followed The whole weekend finished on over 50 families living with A-T from website at www.atsociety.org.uk/ by a presentation by Rupert a real high with a “Glee Club” across the UK and beyond. The panel at the Open Forum researchers-speak. Prokofiev and his carer and mentor performance by some of the older Ann. Rupert, who has classic A-T, children to the music of Elbow, The programme was packed. The While some speakers had to talked about living independently, Jessie J and Take That. Even list of speakers and members of leave early, the rest were joined how he had arranged his home and though they hadn’t had much more the Open Forum panel read like in answering questions in the how he recruits and manages his than a couple of hours to a ‘Who’s who?’ of international Open Forum by Tom Crawford and carers. Many people found this an put together and practise the show, clinical research in A-T. We had Howard Lederman from the US A-T extremely inspiring presentation. they did an amazing job and the a great evening banquet with Clinic, Martin Lavin from Brisbane audience were left in no doubt a magician round the tables and Malcolm Taylor from the For the final session, we divided that children with A-T greatly enjoy and disco for the children. And University of Birmingham – truly a into workshops. One of these was singing and dancing! The finale the following morning we had a ‘Dream Team’. They answered a run by Bryony, another was with sent everyone off home with a series of excellent presentations wide range of questions on clinical therapists from the Nottingham smile and a spring in our steps. and workshops ending up with a Rupert Prokofiev and his mentor Anne giving their William Whiltehouse and research questions. and Brisbane A-T clinics. Janet fantastic ‘Glee’ performance put presentation on independent living clarifies a point Corderoy and Sarah Jessop of Turn over to the next page to see on by children with A-T and their Saturday evening the Nottingham clinic were joined what the children got up to... siblings. cells to absorb the drug. She said and cells. He also described the Our evening banquet created a the trial showed that there was work his team is doing screening magical atmosphere – which was For many people, though, it was generally an improvement in the thousands of small-molecule helped by the excellent magician the coming together that was the neurological symptoms of those compounds to identify drugs that who went from table to table, most valuable part of the weekend; that did absorb the drug and that have an effect in overcoming the entertaining children and adults meeting other people with the they hoped to go ahead and carry lack of ATM. alike. same condition or feeling part of a out larger-scale trials in the future. group with others facing the same Karl Herrup: gave a very clear After the food, the children moved problems. Richard Gatti: explained the explanation of the work he has next door to a disco, the DJ of background to the work his team been involved in which involves which had everybody involved. Saturday afternoon has been undertaking to find and intervening in the extremely This left the older teenagers and We were very fortunate to have a develop SMRT (small molecule complex chemistry of the genetic adults to sit and chat over a drink line up of speakers, fresh from the read-through) drugs to help treat processes within the cell to – something which is always a Clinical Research Conference in people with A-T who have a compensate for the lack of ATM. highly valued part of our family Cambridge. nonsense mutation. They have His work has shown positive weekends. identified some promising drugs, results in the lab and in mice Luciana Chessa: talked about but now need the support of a but there is a long way to go Sunday morning the recent trial she led of pharmaceutical company to take before there is any possibility of a After a really good breakfast, the dexamethasone delivered through the work forward. This is hard treatment for humans. morning started with the AGM, an infusion into red-blood cells. She to do but they are making good important event in the Society’s described how the technique did progress. Sharon McGrath-Morrow: year. The AGM saw the formal not produce any of the side effects described the different types of election of the six new trustees normally associated with steroid Yossi Shiloh: gave an overview lung problem that could develop in who joined the Board during the treatment but for some patients of the complex role of ATM in people with A-T and the different year. Marian Barber, Naz Hussain, it had been difficult to get their maintaining the stability of DNA approaches that she would Viv Levy, Ian McInnes, Laura The young crowd take to the dancefloor at the disco! 8 News A-T Society News A-T Society News News 99

Whether listening to the entertainers, going round Duxford or working on their Glee performance, the children at the Family Weekend seemed to be having a great time! 10 Support Services A-T Society News A-T Society News Support Services 11 Voice recognition systems Top tips

One family’s experience software she eventually chose This new feature aims to Tip for Warts message saying who you are and takes a bit of learning. It isn’t as encourage our readers to Use duct tape keep it covered if it he would love to keep in touch Merry (age 11) has been struggling intuitive as some other options but share some of those practical comes off just replace, great pain- with his friends. (Contact the A-T with making herself understood is more sophisticated linguistically. solutions to every-day free way of removing warts. office for more information) in unfamiliar situations for some problems that they have time and so her speech therapist The more buttons on the screen the worked out or discovered by Family Fund Our son uses an iPad, rather than suggested that a ‘Voice output quicker the possible communication chance. Depending on your a laptop or computer. He says it communication aid’ (VOCA) might but we had to weigh up Merry’s circumstances, (you will need to is easier to use and he also finds help her. A VOCA is an electrical accuracy and visual abilities and check qualifying criteria), you can the keyboard easy compared to device that assists people who are the 64 buttons with a screen guard term loan, a Liberator 14, an older Drooling get help from the family fund, they a normal computer keyboard, as unable to use natural speech to gives her a good balance. version of the ECOII, but which still Many children with A-T have a can help with various items for everything is on one screen. He express their needs and exchange uses the Unity software. problem with drooling. Hyoscine our kids. You can request washing also uses and I Phone and say’s information by speaking for them. At first we had it out every day, patches can help; they stick to machines, fridge-freezers, it is great because it has voice and had fun programming in new Her new school has offered Merry the skin and also help prevent bedding, toys, clothing, tumble recognition, and although doesn’t She organised a review where vocabulary and adding some much more structured sessions sickness- particularly in the dryers, holidays and even I-Pads. work perfectly it is easier than Merry tried out lots of different recorded sounds (fart noises etc!). using the machine and this has mornings. There can be some Contact the family fund for further trying to text manually. machines , eventually opting for We found that in some situations been very successful, especially as side effects, but your Doctor can information. www.familyfund. one called the ECOII because Merry was very keen to use it, at other children use VOCA devices prescribe the correct dosage. org.uk it had a bigger screen. We also home over breakfast and for mental too. The ECOII is very clever and Everybody has their own way looked and opted for Unity with 64 maths lessons for instance. At can do all sorts of stuff as well as Sports wristbands are really useful New Life Charity of dealing with the difficulties buttons. We spent a lot of time at her mainstream school they also speak. You can put sim cards in for controlling drooling; children This charity can provide any A-T can bring – and your tips different options for the software, used it a lot to begin with. However and text from it, use it as a remote can then wipe their own mouths, equipment at home that is not might be just what someone to be sure that the system would Merry was very resistant to taking control and Merry uses it for rolling without feeling embarrassed. provided by any statutory provider. else needs. So why not write do what Merry needed. The Unity out and about, refusing to take it dice when she’s trouncing us at There are many different designs They have provided one boy to Kay at the Society’s office to Brownies or shopping , as she Yahtzee! available at sports outlets with A-T with a spare wheelchair with your top tips or email didn’t want people to think she seating system at home. You [email protected]. couldn’t speak. Gradually over the I think that we will look to replace Circulation can get advice about wheelchair three month trial period Merry’s use the borrowed machine with one Some people with A-T can suffer seating systems from wheelchair Please note that these of the ECOII declined, although she of her own and look on it as part with cold feet and bottom of services or O.T’s, You could also tips come direct from still enjoyed the sessions with the of a total communication solution. legs. One of our readers has ask your spinal consultants. our readers and the SALT. Merry can talk and does well found MyCoal footwarmers very www.newlifecharity.co.uk A-T Society takes no speaking, except when she’s useful. They can be placed inside responsibility for their After the machine went back, we tired, when it can be a real big splints also. She purchased them Straws safety or effectiveness. had to decide whether to continue struggle for her. Of course there from a company on line www. We have found some great Before trying any medical with a VOCA at all. As Merry was is physical effort required in using notonlybowls.com. They cost really thin full length straws treatment or equipment, about to begin a new special school the machine but when she has about £1.00 each and are single from Macros. They are great for you are strongly where they are experts in the use to repeat herself several times to use only. children and adults controlling recommended to discuss of VOCA equipment, we decided make herself understood and then the flow of liquid to help with it with your doctor or Merry using her voice recognition to wait and see what their opinion gives up because we’re not there to Uri-Bag swallowing. They are made by appropriate therapist. software was. The SALT got Merry, on long translate, then it will be useful. A reader tells us: “We have Robinson Young and known as used this more now as our standard straws 210mm x 3mm son has become wheelchair Product Code No.0807. Support grants The rough guide to accessible Contact a Family dependent. Sometimes our kids Britain 2012 has reviews by have produced two have urgency to go to the toilet Technology If you or your child is under 18 and disabled visitors, ideas on days new booklets: ‘Guide to and finding wheelchair accessible Just wanted to let other people in need of equipment (that cannot be out and parking information. future benefit changes’ toilets is not always possible, know about play station 3 Home. funded by local/statutory funds) then Free to download: www. and a new ‘holidays, even at friends houses where they Would like to know if anyone else please do contact Kay at the A-T Office. accessibleguide.co.uk play and leisure’ guide don’t have a downstairs loo. uses this or would like to use it We currently have specific funds in for children. To get hold This is a great portable urinal as a way of keeping in touch with place for items such as; bathroom of a copy, call 0808 808 available in male and female people with A-T and their siblings. equipment, mobility aids, wheelchairs, Kay now works full time: Her 3555 or go to: www. designs, just rinse out and ready Charlie Stubbs is a user and has trikes, computers, hoists and any other hours are Monday-Friday cafamily.org.uk to re-use another time. It has a great fun meeting his friends and equipment which is for the child or young 8.30am-4.30pm 01582 760733. lid so no spillage. You can get hanging out together. If you want person below 18 affected by A-T. Email [email protected] these on prescription from to be friends with Charlie his your GP.” username is victorqpr, send him a 12 Support Services A-T Society News A-T Society News Support/People 13 How to protect your family and assets A place in the sun

Liz Smithers, Partner at our Charity of the Year partners Clarke Willmott LLP, gives advice on Tips for accessible holidays to brighten up the British summer! protecting your family and your assets.

hat is actually involved in cost for a Will. The costs can vary Normandy, France Wmaking a Will? You may considerably depending upon what be aware that you should be type of Will is required. If you wish We have just returned from a making a Will but the thought of to go ahead, the Solicitor will either week’s holiday in a wheelchair- the paperwork, legal process and suggest a meeting or will write friendly gite in Normandy. The Dale’s Diary costs may well be preventing you to you with further details of their setting was the ideal ‘away from from taking the first steps. service. it all’ location, with local empty June 2012: My week’s holiday at beaches only a short drive away. Sandpipers in Southport began on Talking to a Solicitor who has What Information do I need to Accommodation was ideal, with Saturday 16 June when my auntie experience in dealing with people’s provide? friendly British hosts Alan and Liz, and uncle drove myself and my Wills should make the whole and even UK TV. Well worth a visit. brother to Sandpipers. On the day process a lot easier to deal with – The more information you can of arrival, we sat about chatting and and very often it is not as difficult bring to a meeting or provide your To view the properties please visit making friends, and played a few as anticipated – but where do you Solicitor with the better. The more www.bonhom.com. ‘Owl Barn’ is games. On the Sunday we had a start? your Solicitor knows about you, the wheelchair-friendly property. nice stroll into town. We wandered your assets and your proposed Just remember, if you go at Easter along the pier but it was very How can I find the right beneficiaries the better he or she France closes for a couple of days! blustery. The next day was a trip to Solicitor? will be able to assist. The following the Lowry Centre and the Imperial details will be helpful: • You may need advice on tax Gary Bromwich (Joe’s Dad) Owl Barn is wheelchair-accessible, with a War Museum, which was very ramp leading in and lots of space inside Do you have friends or relatives mitigation. interesting. Back at Sandpipers, the who have recently made Wills? • Nature and estimated value of evening entertainment was a couple If so would they recommend the your assets • Your Solicitor will produce a of ballroom dancers called ‘Havana Solicitor who helped them? draft will for you to approve. Nights’. Not my scene really so I • Full names and addresses of This should come with an Cyprus made my exit and went to bed! Society of Trust and Estate everyone you wish to make explanation of what each Practitioners (STEP): This is gifts to in your Will (your clause of the Will means. Avid traveller Ian had a great On Tuesday, we went to Chorley the professional organisation for beneficiaries) holiday out in Cyprus and stayed market, where we had lunch practitioners in the area of Wills, • Once you are happy with the at a wonderful fully adapted and explored the town. The trusts and tax. If a Solicitor is a • Full names and addresses document it will be finalised apartment. They also have an entertainment that night was a singer member of STEP this indicates of the people you would like and you will either be invited to adapted mini bus for transfers called Paul Rodgers, who was very that they specialise in these to appoint in the Will to act make another appointment to and full equipment hire, such good. I stayed in the bar and had a areas. The STEP website has as your Executors (people sign or it will be sent to you to as powered chairs, bathroom few drinks. The following day’s trip a search facility so that you can responsible for dealing with sign at home. It is vital that a equipment, etc. was to Port Sunlight, near Ellesmere find a Solicitor in your area who your estate after death) Will is signed in the correct way Port. We had lunch in the grounds specialises in drafting Wills. before the correct number of For more information go to: of the building, then went to the • Any details of your witnesses to be valid. art gallery to look at paintings and What are the first steps? beneficiaries that may affect • (for apartments) sculptures of the local artist, William how a gift should be made, • Once you have a signed and www.ca-touristapts.com/ Hesketh. Back at Sandpipers, the Once you have some details of such as whether they are valid Will it must be kept in a Apartment.htm evening entertainment was another Solicitors, give them a call. Most in receipt of means tested safe place. Many Solicitors • (for equipment hire) singer, who was excellent. On Solicitors are happy to have a benefits or would be unable offer safe custody services www.paraquip.com.cy Thursday, after a day staying in as quick chat on the phone to find to deal with an inheritance to their clients at little or no the weather wasn’t very good, I went out what your circumstances themselves because of age or charge. Ian McInnes (Trustee) out for a walk to the smallest pub in are and to give a brief idea of disability. Britain! I had a brilliant holiday and what sort of Will you might want • Finally, once you have made can’t wait to go back. to consider and an indication What is the process? your Will and signed it do of likely costs. You will have an remember to keep it up to date. Pictures, from top to www.vitalise.org.uk – Vitalise is opportunity to decide if you feel • Your Solicitor will advise you on Your family circumstances will bottom: One of the fully a national charity providing short that the Solicitor is helpful and that the best type of Will to achieve change and the law in relation accessible apartments breaks [such as Sandpipers] for the costs are reasonable before your aims, bearing in mind your to Wills and tax may change on offer; chairs for hire; a people with physical disabilities and glass-bottom boat with carers. you are committed to using them. assets and the nature of your and a regular review with your wheelchair access Do be aware that there is no one beneficiaries. Solicitor is recommended. 14 People A-T Society News A-T Society News People 15

My Life Tom graduates in style

The ‘My Life’ project, carried out by York University, looks at the views and experiences of young Hats (and mortar-boards) off to did a brilliant job in both diagnosing adults with A-T. Bryony Beresford presented her initial findings at the Family Weekend. Tom Hodson-Cottingam who A-T and ensuring his cancer graduated from the University was successfully treated without of Birmingham in June, after adverse side effects. One particularly interesting item at people had aspirations. These four years of study, with a BSc our Family Weekend in June, was included working, whether paid or in Animal Sciences. This is an Tom was always very interested in the first report back on the findings as volunteers, accessing further extremely impressive achievement animals and wildlife and developed of the My Life project. Carried out education and training, living by Tom, successfully completing a huge knowledge of the different by the University of York Social independently and widening their a ‘hard-core’ science course in species and their behaviours even Policy Unit, My Life is a study of the social circles. They showed a keen university recently ranked as one when very small. So it was not views and experiences of young interest in knowing what their peers of the top 10 in the UK, surprising that he chose to study adults living with A-T and their were doing and in meeting up with Animal Biology at university. families. people with similar interests and Tom, who has a ‘milder’ form similar conditions. of A-T, took an extra year to After getting his ‘A’ levels, Tom The project leader, Bryony complete the course. Just before took a gap year and went to stay Beresford, was very keen to take However they also felt that there his graduation he came along to with his godfather, Richard Gatti, the opportunity to come and talk to were a lot of barriers to their the clinical research conference, for the summer, where he worked families about the project. However, achieving their ambitions. These where his in-depth knowledge in the A-T Research lab before at that time, the interviews had included problems with equipment, of biology was extremely useful. heading off to Birmingham. only just been completed and transport and services, rules We hope to feature more on his they hadn’t had the chance to about benefits, money, employer’s experience at university in our Tom is a clever, independently completely analyse the data. She attitudes and so on. They also felt Bryony presenting her project at the next edition but, in the meantime, minded and generous young man. events and activities. This final made plain that she was just giving that it could be difficult for them to Family Day in June our warmest congratulations In his five years at university he academic year was celebrated an initial and very general overview. have good information about what to Tom! has led a full student life with with a Society Ball in May and his their options were. feedback to come. This will give us friends who share similar interests. Graduation on July 5. The first thing she said was that really useful information to work on. Tom was diagnosed with A-T He has been an active member her researchers believed this was One positive fact was that they I look forward to working with these at age 2 when he developed a of the University Gaming Society, Tom plans to stay in Birmingham “one of the best projects they had generally had a good opinion of young people over the months T-cell lymphoma. He was living of which he was President, because he enjoys the variety and every worked on” and the people the A-T Society and the support ahead, to help them achieve their in Nottingham at the time and the overseeing the merger of two stimulus of life in the UK’s 2nd had been a real pleasure to talk that it provided to them and to ambitions and support them in living team at Queens Medical Centre societies and organising regular largest City. to. The focus of the discussions, their families. They would be keen, their lives as they wish to.” Bryony said, had been the young though, if the Society was able people’s lives, the things they to do more to help them with the The full report will be published did, their routines and what they specific issues they face and also towards the end of September. Breathe easier in Brighton looked forward to. They were also to have more input into how the Once it is, the Society plans to keen to talk about the people who Society works, hold consultation meetings with After a “brief” pause, while lead which in turn can cause repeated training (about 30 minutes) on were important to them and the adults with A-T to discuss how investigator Dr Emma Ross was lung infections. a daily basis for 18 weeks. The equipment and services that helped William Davis welcomed the report to take these matters forward. on maternity leave, the research training device is portable, so you them to live their lives. and said that he was delighted at We aim to have a more detailed into using breathing training The research study is looking at can take it wherever you like! what he had heard so far. “It sounds report available for the December in young people with A-T is the effect of breathing through It was clear also that the young as if there is a lot of excellent magazine. underway. The project aims to a handheld respiratory muscle During the study you will be improve the strength of breathing training device for 15 minutes, visited at home to have some muscles, and reduce the effort of twice a day, for 12 weeks. lung function testing, and also breathing in people with Ataxia- to teach you how to use the Olympic values Telangiectasia. The researchers are currently breathing trainer. The project’s recruiting participants for research assistant will then stay At Abingdon school they are working on the Olympic People with A-T have problems this study, so if you would be in constant contact through the values. The value last week was Inspiration and the with weakness and uncoordinated interested in getting involved, training period, and will return teachers had to each nominate one child from the school control of muscles, and this also please contact Emma via email to your home to do more testing who they thought demonstrated this. There were five children in total includes the muscles which allow [email protected]. halfway through, and at the end of who got the wristband and Cleo’s name was pulled out three times! us to breathe. A-T patients often the training. She is really proud of herself for receiving it and hasn’t taken it off find breathing more of an effort They are looking for people with since. and their cough can become A-T who are aged between 14 The project is jointly funded by the weak. This can lead to problems and 30 years and feel they would A-T Society and the A-T Children’s We’re really proud of you too Cleo! in clearing mucus effectively be able to commit to doing the Project. 16 Research A-T Society News A-T Society News Research 17

aiming to create stem cells from Scientists inspired in Cambridge ordinary cells taken from people with A-T. These cells, known as “A wonderful conference. This will increase the pace of our progress and bring our efforts to induced pluripotent stem cells, have a number of uses. They fruition”; “really riveting”; “great science” could be used to screen drugs, to find those potentially effective he words of this participant future research activity gathered in treating A-T. Alternatively, it Tat the A-T Clinical Research in the final session should help should be possible to turn these Conference 2012 held in shape research in the years to stem cells into the particular cell Cambridge in June reflect the come. There was also a distinct types that are most affected in enthusiasm expressed by nearly sense of renewed enthusiasm A-T, such as Purkinje cells or all of those taking part. and of shared purpose amongst granular neurons. Understanding delegates. A-T is such a rare the characteristics of these patient- Organised by the A-T Society, condition and its experts are so specific cells could help better the conference brought together thinly spread that they can feel understand what is abnormal 100 delegates from across the quite isolated. Coming together about their processes, hopefully world, including nearly all the and working collaboratively to map leading to treatments. leading specialist A-T researchers, the way ahead was a very positive together with clinicians and and motivational activity. Discussing the potential of neuro- Cancer researchers from related fields. imaging A-T The cancer session highlighted Discussion with the panel on respiratory problems at the conference Topics covered that while there has been progress As well as covering the various Opening the conference, Yossi dystonia, is common, particularly in the treating of cancers –mainly to read and transcribe DNA. • Better diagnosis, particularly clinical areas of A-T, the Shiloh addressed the question with some mutations, It was lymphoma and leukaemia – in A-T, Using drugs that inhibit these of atypical or asymptomatic programme focused on particular of how the loss of ATM leads to suggested that a special interest there needs to be more sharing processes has had some effect in cases is needed and may give approaches that offer promise of the specific symptoms of A-T. He group be set up to study this, as of information and internationally- improving performance in ATM- insights into the nature of A-T significant progress, such as stem stressed the complexity of the it might teach us a lot about the agreed protocols need to be deficient mice, suggesting that cells, gene therapy, MRI imaging picture, given the very wide range effects of A-T on neurons. developed. Jan Loeffen from the this may be a pathway for future • We need to raise awareness of and clinical trials. Experts from of process that ATM is involved in, Netherlands will be developing therapies. A-T as a potential diagnosis for beyond the immediate field of A-T and also the important role ATM Lungs and immunology a registry to do this. It was also a wide range of neurological research were invited to provide plays in dealing with oxidative The sessions on the lungs and agreed that other countries should Conclusions and future symptoms different perspectives. stress. These would be major immunology both identified priority be urged to adopt the increased directions themes for the conference. areas for research. However they screening for female ‘carriers’ of There are too many ideas and A new Scientific Advisory Board The structure aimed to promote also both stressed the importance the ATM gene now agreed by the conclusions from the different for the A-T Society, chaired by discussion and to encourage Neuro-imaging of setting up an infrastructure NHS in England. sessions to be able to list them all Penny Jeggo, who chaired the concrete outcomes to be agreed. In a very positive session on for sharing data from different here but among the key and more final session, will meet shortly to Each session concluded with neuro-imaging, Nora Volkow centres and also for establishing Clinical trials general conclusions are: discuss how we make the most of a generous time for group presented some initial data international guidelines on best The final session, on clinical trials, the outcomes from the conference discussion, the outcome of which from her imaging work at the practice in the treatment of A-T. heard about two steroid trials, • Better communication and to push forward the search for was fed back to a final session on Brookhaven National Laboratory in This was repeatedly underlined one completed and one planned. more cooperation between all effective treatments. conclusions and future directions. the US. Other speakers highlighted throughout the conference. It also heard about Richard those engaged in A-T research the enormous potential of new Gatti’s progress in developing is essential We will also work closely with This worked very well. The points techniques to help reveal what One very interesting presentation small-molecule read across the A-T Children’s Project and of agreement and proposals for happens in the brain of a person from Gil Sokol, pulmonary drugs. Bringing a new drug to • There is a great value to other organisations to use the with A-T. Following on from the physiotherapist at the A-T clinic market needs the huge amount of conferences like this for A-T Clinical Network to improve session they agreed to set up a in Israel, showed how he used money only a drug company can sharing information and ideas. communication and co-operation, special interest group on neuro- exercises and a device called a provide and while he is hopeful of as outlined above. imaging in A-T and are already Cough Assist to help children with establishing such a partnership, • An international register of designing a potential research A-T to relearn to cough, a vital it is likely to be years before any people with A-T is essential And finally, the conference and project. element in maintaining lung health. successfully trialled drug could be the announcement of the new A-T This emphasised the capacity on the market. • There is a need to agree research fund, featured on page Neurology for supportive treatment of A-T clinical guidance documents 5 seem to have elicited a burst of The neurology session, stressed patients to improve quality of life Karl Herrup’s also spoke of his and get information out to non- activity. As we went to print, we the complexity of the neurological and probably life expectancy. work studying the processes by expert physicians had been informed of a dozen picture in A-T. While cerebellar which the lack of ATM causes potential new research projects. ataxia is a very important element, Stem cells particular cells in the brain to • Supportive treatment of A-T This is very exciting – and just there are many other features, Stem cells were another important die. He has identified a number patients can improve quality what we hoped to achieve. Keep Professor Robin Franklin offers his views which are associated with other key issue. There are up to four of different chemical interactions of life and probably life an eye on our website for more in the discussion on stem-cells parts of the brain. For example different projects around the world which make it difficult for cells expectancy news as it happens. 18 Research A-T Society News A-T Society News Research 19

of people with A-T and work out economy going so badly. and AOA2.” However, I am not Dedicated to A-T research who was a carrier of the gene. convinced. She comes across as Her register now has over 800 We need to recognise and finance a woman with a single focus and Meet Luciana Chessa, a professor of medical genetics from Italy, whose goal is to find a cure for A-T cell-lines from different family good ideas – even if these do driving passion. members. not always offer big prospects for a financial return. A variety of So what does Luciana do to switch uciana Chessa could be excellent scientists and by working She was already offering genetic approaches is essential. We don’t off and relax? Books and travel Lconsidered the ‘grande dame’ – together I feel we established new counselling and pre-natal genetic know where the answer is going are her two outside interests. “I or perhaps we should say ‘grande insights.” diagnosis but, realising that with to come from. It can seem as if we need to read to relax”, she says. signora’ of A-T research. Since the knowledge she now had are spending money on pointless “It doesn’t matter if it is a book, an she first became interested in A-T I asked Luciana what had drawn she could do much more to help things but they then turn out to be article, a magazine, I just have to in the mid 1980s she has built up her to working with A-T. “It’s an people, she went back to university really useful. Most people work in have written words to read. a remarkably detailed database of emotional thing. Once you are in and in 2001 qualified as a doctor. good faith. A-T patients and families in Italy, contact with these children it just She is currently reading The Great been involved in work to isolate the gets you. They are so clever and Since then, she has combined I ask her what she is most proud Game by Peter Hopkirk, about the A-T gene, and is now very active in sensitive. It feels as if it is they who the different areas of her work; of in her distinguished career. 19th Century struggle for control organising clinical trials. are worried about their families, diagnosis, analysis and also She pauses: “I am proud of what of central Asia. Why this? The not vice-versa. medical care. And her focus now we have achieved, given the answer is her other passion, for Last year she led a trial of is on clinical trials with cortico- conditions that we are working in travel. “I have just come back from dexamethasone to treat the “Having to work with a steroids. Italy- underfunding and general Uzbekistan. It was fascinating – neurological symptoms of A-T, progressively degenerative disorganisation.” I ask if she would the people, buildings, landscape using a ground-breaking new disease is incredibly frustrating. “What we have found is not a cure, like me to use another milder word. and of course the food...” Like technique to almost entirely But while I’ve seen so many but in my view cortico-steroids “No. Disorganisation. That’s the every good Italian, she has eliminate side effects. And she is diseases, there is something are an important treatment option. right word. views on the food “The meat was currently working to put together special in these children – you It’s a symptomatic therapy but excellent – it reminded me of how an international partnership for could say I’ve fallen in love with it’s the only one we have. I am it used to taste when I was a girl a larger clinical trial of steroids, them... The most important thing confident that it will be found to “Having to work – and they have some fantastic which she believed can have is to find a cure. This is the goal of health service, it has a strong have a positive effect – if I weren’t, with a progressively soups.” a significant impact on the my life.” regional focus and communication I wouldn’t be working with it. degenerative disease is neurological problems A-T brings. between different centres is not And what about the future? What Luciana’s initial training was as a very good. But while she is very encouraged incredibly frustrating. does she think are the most Luciana, who is director of the laboratory geneticist, rather than by the possibilities, there are still But, while I’ve seen so exciting lines of research? “I am clinical genetics lab at Rome’s a doctor. She was working in a Undaunted, Luciana questioned problems to overcome. “The next sure that small read-through Sant’ Andrea Hospital, came to laboratory looking at a range of colleagues and by travelling to and step, in my view, is to try to find the many diseases, there is molecules, like those used by the Society’s offices to meet me. ‘conditions like A-T where breaks fro across Italy, got the clinical data optimal dose for each patient, to something special in Richard Gatti, are a very positive She was in the UK for the Clinical in DNA, can’t easily be repaired, and blood to establish a sample enable them to be treated without these children [with A-T]” approach for people with nonsense Research Conference, despite leading to chromosomes becoming bank. Today the bank contains too many problems. I am confident mutations.” having her right arm in plaster, damaged. samples from around 150 A-T that we can find a way to treat from a recent bad break. patients of whom 70 are alive, and even very young patients, and Otherwise, there are two areas In the course of this work, Luciana also other individuals with related slow the disease progression as “I am happy to be able to go that are particularly exciting. “That’s dedication” I said, but met a few patients with A-T, and conditions. early as possible. on with this work, even though “Firstly, stem-cells mean that it is Luciana has no time for praise. this really got her interested. I am working almost totally possible to create neuronal cells “I’m not sure what it is”, she She created a repository of The quantity of samples she What would help take her work alone. Going round Italy to find and other brain tissue and to try retorts. “I fell over in the street lymphoblastoid cell-lines which can gathered from patients and their forwards? “Well, we are completely families, data and blood; setting to use this to test substances and on Friday evening. It hurt, but I be kept alive as long as you need families was for many years dependent on the collaboration up our register and sample bank; develop treatments. Secondly, just got on with the weekend. It them, unlike the blood samples or unrivalled. It was a very helpful of families. We need their trust assisting the cloning of the gene; we need to be looking at the use was only when I drove into work fibroblasts they had been using resource in the search for the and confidence, even when the these are all very important. And of small molecules that can pass at the hospital on Monday that before. ATM gene and she worked closely results are not initially astonishing. being able to create a small unit through the blood-brain barrier my colleagues persuaded me with laboratories of Yossi Shiloh, However, they shouldn’t have for diagnosis, and the fact that and work directly on neuro- to have it looked at. When the A presentation of her work in Richard Gatti and Malcolm Taylor unrealistic expectations.” we are in a position to carry out degeneration.” orthopaedic surgeon got his hands the UK led to her spending six who were seeking to isolate it. And trials on steroids. These are all on it, I suspect you could hear me months at the Centre for Genome of course in 1995 the gene was The other thing, of course is: achievements.” And finally, if she had a message in Naples..! However, there was Stability in Brighton. While there, found. “Money, money, money! It’s worse for people with A-T, what would no way I was going to miss the the director of the centre, Brian in some countries than others. The I ask about research interests it be? “To be confident and trust conference.” Bridges, suggested that she set up This discovery enabled her to start ideas are there, and there are a lot outside A-T. She hesitates. “Mainly in our efforts. As I’ve said before a register of people with A-T. doing genetic analysis to identify of excellent scientists working on breast-cancer, its diagnosis we have good people and we And how had she found it. the specific mutations of people A-T but they don’t have the money, and demographics. And I am have ideas. With the money “Extremely interesting and very This proved no simple task as, with A-T and also allowed her to labs and opportunities. It is getting also interested in other A-T-like and support, we can make real fruitful for my work. I met a lot of although Italy does have a national analyse samples from relatives more and more difficult with the diseases such as ATLD and AOA1 progress.” 20 Fundraising A-T Society News A-T Society News Fundraising 21

Sophie and the Olympic Torch Action for A-T

By Simon Lynn Hello! Shared event

On Sunday 3 June 14-year-old Emma Anderson, a Trustee of A-T HQ has seen many interesting events in the first half of the year, and I hope this newsletter will Sophie Lynn had the honour Action for A-T, and supporter of give you a flavour of some of the fun and excitement shared by our fundraisers around the country. of carrying the Olympic Torch the A-T Society writes; “On May in Glenariff, Northern Ireland. 19th we held a Family Fun day We have reduced the fundraising pages for this edition to free up space for the family weekend and This was the culmination of a in Haslemere in aid of Action for international conference information and photographs. Nevertheless, we’ve packed in as much information as we long process starting with her A-T and The A-T Society. This is a can, and we hope you enjoy reading about our wonderful fundraisers and their dedicated support for the A-T Society. nomination almost a year ago. cause the community have really taken to heart since Evie Read’s We never underestimate the time and effort which goes into raising money for us, from a ball to a coffee morning Sophie was nominated because diagnosis and many people wanted and everything in between. We hear about the hours spent training for sponsored events and share the huge sense of she has a great ‘can do’ spirit to help and show their support. achievement when someone exceeds their personal best. despite the limitations of having A-T. She has suggested and helped “The Entertainer came and So in this Olympic year, we wish you happy fundraising for the rest of 2012 – and remember the team is here to organise many fundraising events supported us with a stall (all money support and encourage you every step of the way. over the years, raising money for to the charities) as well as other the A-T Society at every chance. local businesses. We had a bouncy Suzanne We felt that Sophie was a good slide and castle, face painting, candidate to carry the Olympic beat the goalie, coconut shy, kid’s Torch and hoped the Nominations bus was brilliant with torchbearers races, cream teas, BBQ and many Committee would recognise her. laughing and joking until it was their more things going on. The Mayor Just before Christmas we found out turn to carry the torch. Eventually of Haslemere drew the raffle and Media opportunities that Sophie was going to be one it was Sophie’s turn and when she there was even a visit from Snow of the lucky 8000 torchbearers but got off the coach all her friends White. We had a very successful To keep the level of support we If you were willing to share we were sworn to secrecy until 19 and family were there to give her Silent Auction with some amazing offer to families and to fund more your experience or a story in Welcome! March this year. a cheer. Sophie’s godfather flew prizes donated by local people. medical research we have to keep this way, that would be a real in from Indonesia (a 14 hour flight) The event was continuously busy increasing the money we raise. gift to the Society. To start this When we could finally let the cat out especially to see her and I know all day with an overwhelming turn We really appreciate the many process, we ask you to complete Thanks to A-T mum Jo Betts’ friend of the bag her school had a special Sophie and the family will never out. It truly was a community event families who work hard to help a media information form. This Lexy Morgan and our longstanding assembly to announce the news. It forget this. Other guests came from that was brilliant fun and raised with fundraising and stay in touch contains your contact details and IT supremo Alan Staples, the A-T went round our local community like London and Edinburgh as well as over £5000 as well as achieving with the charity to give us new gives a space to tell your story. Society was selected as Charity of wildfire with many people calling to places closer to home. While she awareness of A-T.” ideas. In this way, if we have an enquiry, the Year by the Cambridge office congratulate her and wish her luck. waited for the incoming torchbearer after a quick confirmation phone of Worldpay. Worldpay provide to light her flame she was the Even if you are not in a position call with you, we are able to pass online payment systems for The week before the Torch came centre of attention with media and to raise money for the charity, if on information immediately. internet shops and the staff threw she received her uniform and onlookers taking photos of her. you are willing, you can help us in You can download a form from themselves into supporting us. instructions of what to do on the other ways. the website, or contact day. Her little sister Zoe was The flame soon arrived, Sophie got Suzanne at the A-T Society Worldpay have teams taking part nominated to push her in the relay her flame lit and Zoe and her set It’s really helpful when we are office. in both the British 10K London so she had to get a white outfit too. off down the road at what seemed able to place strong stories in the Run and the London to Cambridge like 100mph. The 300 metres that media, whether TV, radio or local Ian McInnes did just that and cycle race. Employee and author On the day itself both the girls were she carried the flame was lined with or national press, to spread the within a few days was interviewed Graham Jones is donating a really excited and couldn’t wait to well-wishers and she got cheered word about A-T and the work of by a journalist for a very positive percentage of each sale of his first get left off at their collection point, all the way from start to finish. At the A-T Society. article in the Edinburgh Evening novel “From the Painter’s Heart” to to be picked up by the Olympic the end she passed on the flame News. You can find the whole the charity and they also regularly convoy. When we got there the and got to keep her torch. She said The best stories are ones which article on the paper’s website – hold fundraising events at their Olympic Torch Relay Team could it was one of the best moments of show the impact on families, the but here’s one quote we loved offices. not have been nicer and Sophie got her life but it was over so quickly. strength of character we see in from Ian “When people find out special attention because she was every child and adult with A-T what I have and then the life span You might have met some of their the youngest torchbearer that day. All of us would like to thank the and stories which clutch at the I was supposed to have, they volunteers at the Family Weekend Sophie and Zoe got on the Olympic Olympic Torch team for the way heartstrings. As well as engaging can’t believe it. I have made a and we were provided with a credit bus with the rest of the torchbearers that we were treated and looked people, they raise awareness hobby of proving doctors wrong – card machine to use at the A-T for that day while we rushed off to after on our special day. Thanks of Ataxia-Telangiectasia, the it’s something I have done since Spring Ball. We wish Worldpay await Sophie at Glenariff. as well to all our friends and family importance of family support and I was born and I don’t intend to a happy and enjoyable year for supporting and encouraging the research towards a cure. stop now!” with us. Sophie said the atmosphere on the girls as they carried the flame. 22 Fundraising A-T Society News A-T Society News Fundraising 23

entourage wending their way up was trying to flap them out of my The Fearsome Four West Highland Way Challenge north! The sun began to shine on anorak as quickly as they were us and we stopped for a break swarming in.

et me introduce myself! My Whether we were tired from the So on we trod, all in a line, one Lname is Horse. I am a singer walk or fit to bursting with our lunch after the other. It was both tedious song-writer. As a creative person – we all had a little snooze in the and solitary work. All joking aside, I tend to wear my heart on my sun. This day was exceptionally this was a real challenge. Several sleeve. My first awareness of pleasant – apart from a few rising guides warn that if you reach the A-T, I am sad to admit, was being gradients. The path was fairly halfway mark at Ba Bridge and the approached by Suzanne Roynon to undulating and of course the weather comes in you should turn contribute a track for a video piece sunshine was delightful. back. I was anxious but determined, for the A-T Society to be shown as was everyone else. at an A-T telethon in America. As Further on we met McGowan the the track she wanted was owned Highland coo (I named him after The wee break at Ba Bridge with a by EMI and we wanted to avoid the toffee). He seemed very curious few energy bars certainly perked us potential copyright infringement about us. We watched as he made up but the bunches of wilted flowers issues, myself and guitarist Gordon his way over the river. AJ began lying in memory of someone just to sang/recorded the track live just walking backwards – I was wearing the side of where we rested, made after a show in London’s Bush Hall a red vest! We moved a little more us feel very thoughtful indeed. Mega-Tri inspired for the charity to use quickly onwards after that – I had to catch up with them as they had left The sky descended over us and its by Lola I had absolutely no knowledge Horse takes note of the signs! me behind in their haste! dark clouds hovered ominously. We of A-T and was shocked at how moved on wrapped up tightly. The Like every other parent, when it goes unnoticed by the general Drymen to Balmaha be a fairly easy walk and fairly flat – That night we indulged in a wee rain came down like stair rods and Lola’s Mum Jo was told that her populace. With all of this in mind, Armed with waterproofs and wrong! Uphill, downhill zig-zagging, glass of the local ale – Blonde Bitter we hunched our shoulders forward. beautiful daughter has A-T the when my partner AJ, good friends packs on our backs, off we set on and seemingly endless It felt much and Twisted – which slipped down Then eventually, seemingly as if world stopped. After digesting the KB and Gemma and I thought our first stage, buoyed with the longer than the suggested 6 miles. rather nicely thank you very much. by magic, we began to see traffic news, Jo bravely decided to tell we would do some of the West spirit of adventure and our initial a mile or so to our right, This could all her Facebook friends what had Highland Way across Scotland, we excitement. Lots of talking and lots The midge issue first presented Bridge of Orchy to Inveroran only mean one thing, that we were happened and asked them to help thought we should try to raise some of snack bars later (and a couple itself on a brief stop over a burn then on to Kingshouse getting closer to the A82 and the give Lola a future by supporting funds for a charity. The choice of of wrong turns) off we set with a whilst applying Jungle Formula – I We stepped out at a jaunty pace end of our trip. the A-T Society. She was deluged charity was easy for me,The A-T real spring in our collective steps was engulfed! I resembled Pig-pen – all of us far fitter in the few with offers of support, including a Society. for around 4 miles. Then we came from the Charlie Brown cartoon days in which we had spent on The weather never let up after this. Ball and a Skydive which you can upon Conic Hill and decided to go with a cloud of bugs around me. our adventure. Everybody was We trudged on until we hit the main read about in a later newsletter. Each of us is very busy with work over rather than around it. From the Panic ensued and we all ran away delighted at the increase in stamina road and eventually we reached the However, for this edition we are and we didn’t have more than 3 foot of the hill the path gradually but covering up as we went. Please as this was the stage we were end of the stage at the Kingshouse concentrating on Kevin McGregor’s days here and there for walking so steeply slices through the hill, and note my language at this point has worried about. Hotel. Mega-Tri plans for April 2013. we decided on four stages to fit in it was with a lot less talking and a been moderated – whilst a midge with our schedules; much more irregular pace that we feeding frenzy is taking place one’s For our last day we put two stages We enjoyed ourselves so much, Kevin lives and works in Singapore eventually made the top. politeness can slip somewhat! together, Bridge of Orchy to we all want to do the remainder of and has friends and contacts all Inveroran – a wee stepping stone the West Highland Way whenever over the globe. He has formed a The view over Loch Lomond was Tyndrum to Bridge of Orchy of about 3.5 miles leading on to we can find the time again. So far team who plan to raise £100K for tremendous. It had been some time After a night’s rest and fuelled by what is dreaded by loads of people we have raised £1,127 for The A-T the A-T Society over the next year. since I had ‘done’ any hills and I a sumptuous Scottish breakfast – Rannoch Moor – about 13 miles Society. The Mega-Tri will start in Plymouth found it really exhilarating to be we set off at a rate of knots. of moor which on a dreich day can with a 4km swim, then the team will elevated and amongst the clouds However, as we passed the be hell on earth with absolutely no cycle the 220 miles to Brighton in again. Green Welly Shop, we saw a shelter whatsoever! time to run the Brighton marathon fairly large contingent of buses, on Sunday 14 April. A music gig and Crianlarich – Tyndrum police and ‘locals’ We asked a From the hotel is a roadway which auction are provisionally planned Several weeks later and a few more policewoman what was happening. then becomes a path nudging you for the Sunday evening. practice walks between us, the real It transpired,the Olympic torch towards the moor. There is a further walking began. was going to be passing through. path with forest either side which If you are a strong cyclist and would Having missed it in Glasgow by then disappears leaving you facing like to join all or part of the cycle Fortunately, having spoken to doing the walk, we were thrilled the moor. To this point we had been section, please contact Suzanne several people who had done and vowed to keep an eye out for expecting rain but it seemed to just to be put in touch with Kevin. You this stage, we were a little more it. As we were travelling along the hang over us. We had a moment in can keep track of the event on prepared than if we had trusted our route 2-3 miles outside Tyndrum we which we had a skirmish with our Facebook at ‘Mega-Tri for Lola Horse and her team after breakfast book’s commentary that this was to got our wish and saw the Olympic auld enemy – Scotus Midgimus. I ‘McGowan’ the highland coo! and A-T’. 24 Fundraising A-T Society News A-T Society News Fundraising 25

The South Downs Joy’s Super-story Way Cycle Path I like to do what I can to support the A-T Society because they Matt Wright, a friend of an A-T have given us so much help since family in Hampshire, gathered a our children were diagnosed. team to take on the South Downs Way. He writes: We started the I found out that our local branch ride from Winchester on Saturday of Sainsbury is very keen to 7am, 103 miles, approximately be involved in the community. I 3500 metres of climbing (GPS died wrote to the store and asked for before the end!), 7000 calories permission to sell A-T goodies burnt, 15 litres of fluid, copious and do a collection. So far, they energy gels, Haribo sweets, jam have given me two dates and sarnies, a malt loaf and 16 hours as a result more people around later we reached a dark and my hometown now know about blustery Eastbourne, to be met by A-T, raising awareness as well as our other halves and very patient Troopers for A-T Bridgnorth Walk valuable funds. children. Team leader Tim Hughes writes: ever and tested ageing knees but To my surprise I was invited to the At times it was very physically The 22 mile Bridgnorth Walk was we all survived – the younger lads Sainsbury’s charity night, and was and very mentally tough, but the held on 4th June 2012 and the achieving some good times. presented with a further cheque majority of the time it was a real The team on their bikes with the stunning South Downs backdrop weather was good for walking for £50! It’s good fun going out blast and a great “box” to be – no rain, plenty of clouds, a 12 months gives the more and chatting to new people and ticked, especially with the A-T perfect conditions for riding. A massive thank you from the steady breeze and relatively low seasoned of us just about enough I know I’m helping a charity very Society in mind. On the ride we I now know what it’s like to get bottom of my heart to everyone temperatures for the time of time for the blisters to heal and close to my heart. I’d recommend only suffered 3 punctures between to the peak of a hill wishing who supported me and to Gracie the year. for the joints to recover for next it to anyone! 5 of us, so the puncture god was for some friendly lights the who gave me the inspiration to the year! looking down on us. The weather other side to find it’s nothing but do the ride to raise money for the After a steady start from Bridgnorth Joy Ferguson gods were also looking down on more hills stretching out in front Charity. On to the next challenge... the summit soon came into view We are hoping to raise more than us through the day as it was near of you! Any ideas welcomed! and eventually on reaching the top £2,500 with gift aid, either via the we could just see into Wales. sponsor forms or online, by the time all the sponsor monies have been A-T Spring Ball The Ball was so popular that the The way down was as tough as collected. venue was immediately re-booked for 27 April 2013 for next year’s The first A-T Spring Ball was a event. Solicitor firm picks the A-T Society sparkling evening of entertainment for more than 300 people who The 2013 A-T Spring Ball will had travelled from all over the UK feature the “Mugenkyo Taiko Bristol-based solicitors Clarke with printing and to be there. Chester Racecourse Drummers”, a top performing Willmott LLP have adopted The practical advice; Robert Smeath, provided the ideal venue for the group bringing drumming to A-T Society as their charity for a partner specialising in Will event organized by Vaughn and an exhilarating new level, and the next two years. We share this planning gave free consultations Joanne Rawson and Tania and compère/comic John Martin will honour with their local children’s at the family weekend; and advice Andy Wheeler. entertain throughout the night charity Jessie May. from another partner, Liz Smithers, and run the auction. The band, features on page 12). Clarke Guests were entertained by Universal Exports, make a Clarke Willmott aim to maximise Willmott also arranged the design Britain’s Got Talent stars Signature welcome return to lure even the their corporate social responsibility of a special promotional flyer for and Les Gibson together with local most unwilling dancers onto the (CSR) benefits to their charities the Marathon des Sables. band Universal Exports who filled floor! and have offered us skills and the dancefloor for each of their sets. personnel. The flagship Bristol 10K was one A charity auction included sporting Tables of 10 are already being of a variety of fundraising events lots from premiership football reserved, so put the A-T Spring This couldn’t have come at a better that are planned for the next two clubs and the worlds of boxing and Ball on your list of ‘must do’ events time for us, and Clarke Willmott years and we look forward to formula one and framed posters for 2013, contact Suzanne@ staff have been very involved in working with both Clarke Willmott Tables are already being reserved for the signed by stars of stage and Atsociety.org.uk and your details the planning and preparation of and Jessie May throughout 2012 2013 A-T Spring Ball. Get your tickets now! screen. will be passed on to the organisers. the conference, supporting William and 2013. Joy Ferguson at Sainsbury 26 Fundraising A-T Society News A-T Society News Fundraising 27

Les Gazelles Brownies love Triathlon wristbands! The A-T Society had an all French fundraising team The 1st Bensfieldside (St supporting us in the Cotswold Cuthbert’s) Brownies hosted a 113 Half Iron Man event. cake sale and raffle. While they were at it, they all invested in an Marie and Celine joined Perrine A-T wristband and celebrated the Hue, a friend of Stef Sprawling, to Olympics with a visit from a local take part. The ladies each selected torchbearer. a charity for their support and organised a cocktail party to add to their total.

They created an informative website about the event Steve Ogden – Great which you can find at: www. lesgazellestriathlon113.com Manchester Run It’s wonderful when friends of Tough Mudder friends get involve with fundraising Team Walope Great – it shows your passion can enthuse others to go out and do Paul Gordon and his team mates North Swim something incredible. Steve Ogden crossed boggy hill and soggy decided to take part in the Great swamp in The Tough Mudder, a Manchester Run after sponsoring 10K mud race in Scotland. Nick Walsh, whose niece has A-T, his friend Nicky Edge last year. challenged girlfriend Siobhan to join him in chilly Lake Windermere Steve did a great time and will be for the Great North Swim. Nick supporting us again in the future! said “Siobhan and I managed to complete the swim on Sunday after the Friday and Saturday events were called off due to the appalling weather. Unfortunately Siobhan took a bit of a beating from another swimmer who tried swimming through her, but she still completed the swim in a very good The Marathon des Sables time.”

Congratulations to Nick and Those who attended the banquet at this year’s family weekend Siobhan on their new webbed feet! were treated to a short and very humbling talk by Sergeant Trevor Sanderson, a great friend of the Sprawling family. Trevor found his time serving in Iraq and Afghanistan made him revaluate his life and as a result he has made a commitment to spend the next few years raising ‘Out of your Mind’ Miss Surrey money for the A-T Society with a range of events and challenges. Stunning Shenise Bennett (right), This is a man who doesn’t do things by halves! The MdS involves Wool Village Hall was the Miss Surrey 2012 has chosen running 5 marathons in 6 days across the Sahara desert carrying all venue for a night of magic and to support the A-T Society as your own equipment. Trevor hopes to get some corporate sponsorship entertainment staring Graham one of her two charities in the from companies all around the country. You should find a leaflet with Jolley and Herbie Adams. The run up to the Miss Great Britain your newsletter explaining how you can encourage Trevor and perhaps event was organized by Reg Foy, competition. She has already get your company or friends involved in his marathon fundraising with Jen and Bob Owens doing completed a sponsored cycle and efforts. sterling work behind the bar! has more plans for fundraising and networking for the year ahead. 28 Fundraising A-T Society News Why we made Wills ‘in trust’ – by an A-T parent

When my husband and I first got married we made wills. It was a relatively important thing to do as we were young and didn’t want any government to get their hands on our assets!

When our children came along, our wills were amended to include them as beneficiaries. As my father had died shortly before we changed them, it made me suddenly realise just how fragile life can be.

We also had the unenviable job of thinking about what would happen if we died whilst our children were still young and who would look after them. At the time no relatives were considered suitable for one reason or another, so we asked some dear friends if they would act as guardians and they kindly agreed to do so. Then a few years ago our lives were turned upside down with the news that our children had A-T which meant they may not be able to look after themselves independently or manage their own financial affairs when they grow up. At that point I’m quite an organised person and drain the finances. we had re-think everything. felt for my peace of mind I should also name three other people so if I also ensured that when we are First we asked our friends if they any of the trustees were unable to no longer around, the people we were still willing to carry out their carry out their duties, there would love and care about get whatever duties as guardians, if the worst be someone else to carry out our is left and, of course, if they have should happen. Fortunately they wishes. died before us, we have named a were prepared to take on this task. charity to benefit. My husband and Next we had to rewrite our wills. The reason for leaving things ‘in I did a mirror-image style will so This proved more complex as we Trust’ is that if the children need a if one of us passes away and the had to find a solicitor qualified lot of care, our estate will not be other remarries, the original wishes to carry out the type of will that used up in care fees because the are still carried out! was necessary and our original Trust means the capital is kept solicitor did not have the right secure. At the time, it was quite difficult qualifications. We had to consider thinking about what can be a taboo who we could trust to manage At the moment, if someone has subject, but once it was done, our children’s financial affairs. more than £25,000 in savings we could rest easier and carry on After much soul-searching we (without a ‘Trust’ the children enjoying what will hopefully be a approached four people we felt we would have this from the proceeds long and happy life, secure in the could rely on, and most importantly of selling our house) then you knowledge that we have done all were not going to benefit financially are expected to fund your care we can to safeguard the future of once we had passed on. and it doesn’t take long to our children.