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A-T Society News ISSN: 1366-0209 Summer 2017 No. 53 A-T Society News This sparkling issue celebrates • The start of the Erydex trial • The International A-T registry • Achievements of people with A-T • Inspirational fundraisers 2 A-T Society News Ataxia-telangiectasia is a rare, genetic, challenges than many, people with A-T have lives neurodegenerative disease. It starts in early to live, and the Society’s aim is to ensure they have childhood and affects many parts of the body causing the support they need to live them to the full. We do severe disability. this through funding research, providing information, practical support and financial assistance, working to The A-T Society was established in 1989 and is improve clinical management and raising awareness. committed to helping, supporting and advising families affected by A-T. While they may face more Contents 3 Diary 13-22 People • William Davis, • Erin’s new wheelchair chief executive • Pride of Gwent award • My journey to employment 4-8 Research • Erydex trial underway 23-43 Fundraising • A-T Registry • Corporate fundraising Page 6 Page 22 • ATTeST trial • Chelsea Film • Diabetes and A-T Study • Global Make Some Noise • Inspirational Fundraisers 9-12 Support Services • BBC One Show Children in • Adult Activity Weekend Need Rickshaw Challenge • PIP assessments • Breast screening in women Page 9 Page 34 Editor’s comments Many thanks to all contributors. The copy date Phone: 01582 760733 for the next issue is 1st October 2017. Please Fax: 01582 760162 send comments, ideas, articles and pictures to: [email protected] www.atsociety.org.uk Beatrice Prokofiev Champagne 07841 485330 Registered Charity cycle ride [email protected] No.1105528 If you would like to receive this newsletter The opinions expressed in by email as a PDF file, please let us know. A-T Society News are those of the individual authors and A-T Society, Rothamsted not necessarily those of the Harpenden, Herts AL5 2JQ A-T Society. A-T Society News Diary 3 Just William William Davis, chief executive of the A-T Society, reflects back on a busy few months Having returned a couple of weeks But alongside all these and many ago from cycling from St Albans other uplifting events, there to Champagne to raise money for have also been moments of real the Society I feel that the last six sadness, in particular the loss of a to nine months have something number of people who have been in common from riding across very influential for the Society. Normandy. You go riding across Many people will remember the sunny uplands for a while and Rupert Prokofiev, who died at the then it’s down into a deep valley beginning of the year. Apart from with a long climb out and then being a trustee of the Society, once again you’re rolling across Rupert had spoken at a number of beautiful flat countryside. Family Weekends, talking about We’ve had some great highs. For independent living and most a start, there was all the coverage recently leading a workshop on the we got on national Radio in the language used to talk about A-T. run-up to Global’s Make Some His engaging personality, positive “ There was that Noise Day. A number of our young attitude to life and willingness to people and their families did a speak out were a huge inspiration incredible moment great job of talking about life with to me and to many other people. when the £26k cheque A-T on the various stations. We also lost Siân Watkins, another from Global magically There was Ebony Robinson, who person who had lived many years morphed into one for took part in BBC The One Show’s with A-T. Siân’s family were very a staggering £90k.” Rickshaw Challenge – the first closely involved in setting up the ever wheel-chair user to do so. A-T Society and her father Geoff Her enthusiasm and her openness was chairman for a number of people like Siân and Rupert to about the challenges of life with years. It is as a result of their living fulfilled and independent A-T moved and endeared her to efforts that the A-T clinic was first lives with A-T. people across the nation. Read established in Nottingham, where Our strategy will look to address more about this on page 34 and 35. the family lives. We publish an the psychological and emotional article by Siân on page 20. There was the touching film about needs of people with A-T and their the twins Brae and Broghan Sewell Another sad loss was that of families at the different stages of and their parents. While the film Mireille Gervasoni, Chair and their lives and in particular to focus highlighted the difficulties A-T driving force behind the French on adults with A-T and help them brings, it was lit up by the obvious A-T group APRAT. Mireille set up build the confidence and skills love between the brothers and APRAT when her son David was to take control of their lives and within the whole family. And this in diagnosed with A-T and it became manage them as they wish. turn brought nearly a whole page the most active and effective This is an ambitious programme, of coverage in the Sun as well as A-T organisations in continental but one that I am convinced is television features. Europe. Mireille admired and becoming more and more urgently worked very closely with the A-T And of course there was that needed given the advances in Society, translating our clinical incredible moment when the £26k care for people with A-T and guidance and other documents cheque from Global magically the increasing number of adults into French and jointly funding morphed into one for a staggering living with the condition. We will projects. £90k. There was the buzz of of course be working closely with cheering on our runners in the So it’s been very up and down, people with A-T and their families Brighton Marathon. And there was but then that reflects life with as we develop the strategy and in the fantastic experience of riding A-T. Looking ahead, though, the doing so we will be taking forward 350 miles with an amazing group Society is currently putting together the legacy of Sian, Rupert, Mireille of cyclists to raise funds for a strategy which is inspired by and many others – and that to me the Society. and rooted in the commitment of is really important. 4 Research A-T Society News Erydex trial now underway The first major clinical trial of a treatment for the symptoms of A-T gets underway – but not yet in Nottingham After all the talking, planning to say exactly when recruitment their frustration and have been in and preparations, the trial of will start. regular touch with the Nottingham the Erydex System is finally team to offer any assistance we The issue is that Nottingham will underway. Now known as the can to help speed things up. We be one of the largest centres in ATTeST (A-T Treatment with the are also in constant contact with terms of numbers of participants. Erydex SysTem), this study is the the sponsors of the trial who are This, and the complexity of the first major international trial for fully engaged and committed to trial, involving as it does monthly a treatment for the neurological providing all the support needed visits to the centre and a range symptoms of A-T. As we go to to solve the issues encountered of tests and assessments to be press some 20 people with A-T in Nottingham. carried out, mean that they need to out of the 180 required have been recruit a research fellow. It is this However, while we don’t know recruited in 8 centres in Europe recruitment and the bureaucratic the exact start date, we are and the USA. processes of the NHS and nevertheless confident that the The A-T centre at Nottingham will University which are taking time. trial will go ahead and also that be participating in the trial and there is an excellent team in place Many families have been in aims to be recruiting participants in Nottingham to carry it out. contact with the A-T Society to later this year. The centre is As soon as we have any more find out what is happening, having receiving its final site-visit from the information about a start date, heard that the trial is underway in trial organisers in July. However, we will let people know. other countries. We understand at the moment it is not possible A-T Registry The registry will contain clinical data uploaded by doctors and as such it will complement the data being collected by the Global A-T Family Data Platform which is provided by individuals with A-T and their families. In addition to data on people with A-T, it will also collect data on people with related conditions, such as A-T-like disorder, AOA1 and AOA2 and Nijmegen breakage syndrome, which are even rarer The A-T Registry has now been launched and is than A-T. starting to collect clinical data on people with A-T. As it was set up with a grant from the European Because A-T is so rare and patients so spread out, Commission as part of the Horizon 2020 grant which and also because symptoms vary from patient to is helping fund the ATTeST trial, data collection is patient, it is difficult to be able to answer with the therefore beginning with participants in the trial.
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