Newsletter issue # 92 | June - Sept 2018
Famil y St ories (Pages 4-8)
Council Tax Reduct ion Schemes (Pages 11-12)
Our #fragileXtraordinary Virgin Money London Marathon 2018 Heroes
London Marat hon St ories (Pages 16-19)
www.fragilex.org.uk
Research Workshop (Page 23)
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issue # 91 | February - April 2018
Welcome! Chair's Introduction Craig McDonald I hope you enjoy this edition of our newsletter, full of information and articles and hopefully something for everyone. At the time of writing I have just finished a weekend packed with fragile X related activity. I was fortunate enough to attend the 2018 Scottish Learning Disability Awards event on Friday 18th May in Edinburgh with my family as guests of Cornerstone. It was an amazing evening and fantastic to see recognition for individuals with learning disabilities who had such incredible achievements to celebrate. There were a number of award categories and I genuinely think we need to consider nominations next year from amongst our fragile X community, as I am sure we have very many people worthy of recognition at such a prestigious event. On Sunday we held our first Family conference event in Scotland for a while, and it was great to see so many families attend. There were some well-known faces but also it was a pleasure to meet new families who were attending for their first time (especially the very adorable Edin who was 10 months old - he reminded me so much of my own Stuart at that age. He was very cute and very well behaved too!). I would like to personally thank Jeremy Turk and Andy Stanfield for their presentation talks on the day and Sandra, our Scottish worker, for her hard work in organising it. And finally, thank you to everyone who attended, I hope you found the day worthwhile. Finally, following a very successful Research Conference in 2017 in Oxford, we had our 2nd Research Conference on Monday. It was held at a Edinburgh University in the heart of the Scottish capital and attended by people from across the UK. It was a fantastic experience to hear about all the fragile X related research taking place throughout the country, whether it be scientific / genetic related or the behavioural elements such as anxiety, learning, eye contact and more. We are grateful to our keynote guest speakers, Dr Sebastien Jacquemont and Professor Jeremy Turk, plus all the researchers who provided really informative flash talk updates on their work. Thanks also to Andy Stanfield and Peter Kind and the Patrick Wild Centre team for hosting the event. Please take time to review the contents of the newsletter. There is a lot to digest about Thomley, fundraising activity, research and some great family stories too. Finally, and on a very personal note I would like to express my massive thanks to my wife Gillian, our boys Stuart and Matthew and the ?Fragile X blue?support crew who were in London for the marathon in April. Gillian completed a lifetime ambition of running the London Marathon and there was some amazing awareness raising by blue haired ginger twins. In addition, an incredible ÂŁ16,000 was raised for the Society via a huge campaign of activities in
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Welcome! Chair's Introduction Craig McDonald 2018 leading up to her big day. Thank you to everyone who is raising money for the society, finances remain a huge challenge for us and we really need your support in whatever activity you have planned. Have a great summer. Craig. Famil y Weekend Conf erence, Thoml ey Cent re 2018 After the success of last year's new style of event last year we are delighted to be hosting our Family Weekend Conference and AGM at the fantastic Thomley Centre again this year! As last year, it will be a mix of talks, workshops and opportunity to meet others and enjoy the Thomley Centre's great facilities. Save t he dat e! 29-30t h Sept ember Full details and booking will be available on our website and social media over the next month- watch this space! We will also be sending out an email to our members when booking becomes available, so if you haven't yet shared your email address with us, then make sure to do so: info@fragilex.org.uk.
Issue Cont ent s 4
Story: Finlay... a very special little boy
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Council Tax Reduction Schemes
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Story: Emily's gold medal tennis joy
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A Fragile X Hub in Oxford?
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Story: County Durham Support Group
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Fundraising Pages
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Educate to Empower Project
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London Marathon Stories
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Virtual Reality and Sensory Issues
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Research opportunities
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Family Story: Finlay.... a Very Special Little Boy Hel en's St ory to school and is doing really well with physio. He is not walking yet and has no speech but he has no problems letting us know what he wants!
My son Finlay is a unique little boy, he is 4 years old in July.
He loves when we do ?This Little Piggy? on his toes and he adores being read to, he has stages with favourite books when that's all he wants to hear! (He isn?t alone there! Ed.)
Finlay was diagnosed with Down Syndrome at 5 days old, it was a shock but he was our youngest son and a very much wanted baby. I requested a copy of his caryotype and at the bottom of the report there was a paragraph saying that there was a fragility at the distal end of his X chromosome so he should be tested for fragile X syndrome. I had never heard of fragile X syndrome and his paediatric doctor said that you would never get a child with DS and Fragile X but I asked for him to be tested and he has FMFX and Down Syndrome.
We have lots of fun as a family together. I would love to meet more parents with a child with this dual diagnosis, so far I have only been in touch with one family in Texas but I have not yet met anyone in the U.K.
Finlay has lots of complex medical issues but he is a very happy little boy, he enjoys going
I have found the Fragile X Society to be very helpful and the Facebook page is great.
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@Fragilexuk
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Family Story: Finlay.... a Very Special Little Boy Continued Editor?s note: Finlay is a very rare little boy, but do you know any others with both Fragile X Syndrome and Down Syndrome? Let us know if you do. We have a Closed Facebook Group for families with a diagnosis to chat with each other and an open page where we put information. Search for Fragile X Society on Facebook to find them. Thank you so much Helen and Finlay for sharing your story. We are so grateful.
Smal l ef f ort s can make a big dif f erence? The word ?fundraising?often conjures up visions of leaping out of aeroplanes, scaling mountains or organising enormous events. Well yes, that is one element of fundraising but there are so many other ways folk can help, that don?t involve such hair raising adrenalin fuelled activities. Some, that you may not have thought of. There is one element of fundraising that is so precious to us and almost everyone can do it; placing counter top collection boxes. It sounds such a small thing but this is one of the most sustainable forms of income and of course, it raises awareness of Fragile X Syndrome. We are looking for volunteers to take a box (or two) and place them in a locality that is convenient to them, and to manage it. That is, to pledge to pop along and change it over for a fresh empty one when it needs emptying and count and bank the money collected. The frequency of this varies depending on how busy the shop or post office is but it is commonly only 2 or 3 times a year. Such a small thing but can you imagine if just a couple of your family members offered to place one for us as well. That?s three; and then imagine is just 10% of all of our members did that. That would be over 900 collection boxes out in the community, right across the UK. What an achievement. And what a difference that would make to us. So please do think about your community ? could you place a counter top collection box for us? We would be so grateful if you could. Thank you, Barbara (barbara@fragilex.org.uk; 01371 875100 (Option 3))
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Family Story: It's Gold Medal Joy for Emily at Tennis! Louise's St ory Our daughter Emily is 26. She wasn't diagnosed as having Fragile X until she was 15 but despite finding many aspects of school difficult and challenging she was well supported and encouraged at both primary and secondary school and successfully secured a job in Sainsbury's cafĂŠ when she was 16. Emily also volunteers in a church run cafĂŠ in our village and is well loved by both staff and customers due to her cheerful disposition and kind and caring nature. She has a full and happy life, walking our dog, cycling with my husband and has also raised hundreds of pounds taking part several times in the Great Yorkshire bike ride on a tandem with her Dad as well as taking part in each of the # fragileXpeditions, raising funds for the Fragile X Society.
passion of hers that went unfulfilled. Tennis. Emily played a little when she was at school and was an avid fan of all televised tournaments but I wrongly assumed that this was a sport that she would be unable to take part in. However, after hearing about the Special Olympics I thought I'd do a Google search and was astounded to discover that not only was there a tennis club for young people like Emily but that it was right here in our village!
Emily and her Doubles Partner Cameron
Despite all of these activities there was one
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York Disability Tennis Network was set up in 2014 and caters for people with various disabilities who want to play socially or compete in disability specific tournaments. Emily couldn't get there quickly enough and despite feeling nervous initially she soon found her feet and now attends three sessions a week. It has been lovely seeing her welcomed in to this lovely group and she has progressed so well since she joined.
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Family Story: It's Gold Medal Joy for Emily at Tennis! Continued In February the opportunity arose for her to take part in a two day learning disability tournament in Leeds. Emily was very keen but understandably anxious. She needn't have worried as on the second day she and her doubles partner Cameron won a gold medal in the mixed doubles. A wonderful achievement for someone who had only recently taken up the sport. We were so very proud of her and she was rightly, very proud of herself. Joining the tennis club has been such a positive thing for Emily. Not only is she developing a new skill and keeping fit, but is also making lovely new friends. Winning in more ways than one!
Well Done Indeed!!
Thank you so much Louise and Emily for sharing your story. We are so grateful.
Int erest ed in hel ping t o l ead t he Fragil e X Societ y? The Fragile X Society is governed by a fantastic group of volunteers, who use their skills to ensure the health and growth of the organisation. We need people who are passionate about the work of the Fragile X Society and we welcome people with many different skills to the team. The role requires attendance at our quarterly board meetings, which typically take place in London on a Saturday (expenses covered) and interim support with activities around your area of interest and expertise, according to your availability.
This is a great opportunity to make a meaningful difference to our charity and community. If you would like to know more you can contact our Chair Craig (craig@fragilex.org.uk) . There is also further information at: http:/ / www.fragilex.org.uk/ becomeadirector
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County Durham Support Group From Sarah
In 2010 both of my children then aged 1 and 3 were diagnosed with full mutation Fragile X Syndrome (that's us in the picture on the right!). Already being a registered nurse in the Learning Disability field I instantly knew what that would mean for our future as a family, having worked with several people who also have the syndrome. I quickly realised there was nothing in our area in terms of specific support for families with Fragile X so contacted the society for help in setting up a support group. They supported me by writing to local families asking if they would like to be put in touch and that is how the County Durham Support Group began. So in February 2011 I met with three other mums and we instantly clicked, (below pic is some of us mums on a night out in Newcastle) they all had similar experiences to me and just ?got it?. My children are the youngest in the group so I have always benefitted from everyone?s else experiences whenever I have an issue, they all have the valuable advice I need. Initially as a group we met once a month for a cuppa and a chat, sometimes having guest speakers along, eventually that changed and we became more geared towards family days out, fundraising (pic below is a group of us who took part in the colour run to raise money for the society) parents nights out and even girly spa weekends!
Over the last seven years we have made some truly wonderful friends who I nickname our ?fragile x family?. We have enjoyed seeing all the children grow and have supported each other during difficult times. We have also made some amazing memories and I count myself lucky to have such a strong network of friends and would be lost without them. The County Durham support group has linked with 17 families over the last 7 years and hopefully will continue to be a support network for many more. Sarah x
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County Durham Support Group Continued Support Groups It is lovely to hear how well this group is doing and many thanks to Sarah for setting the group up and continuing to run it. Many thanks also to other family members who give up their time to run groups. Support groups are something we are often asked about when people call/ email the society. At the moment there are groups in Essex and Surrey that meet regularly one morning per week in term time and a group in Glasgow that meets about every 2 months in the evening. In addition, there is a group of ladies in Edinburgh who meet for lunch on an ad hoc basis. If you are interested in joining any of these groups, please contact Wendy by emailing wendy@fragilex.org.ukor calling 01371 875100 for groups in England or by emailing Sandra at sandra@fragilex.org.ukor calling her on 07825 050072 for groups in Scotland. Family life is really busy and setting up groups is not easy. Sometimes there are just not enough people in any one area with availability at the same time to make a viable group. Other groups have been set up and had to fold because of this. However, if you are interested in or just want to talk about starting a group please contact Wendy or Sandra (for groups in Scotland) as above.
Educate to Empower: Fragile X Syndrome Resources and Training ? Update We cannot believe we are at the end of this exciting piece of work. Dr Andrew Stanfield from the Patrick Wild Centre and Sandra, our support and development worker have been running the roadshows throughout Scotland since October last year, covering Aberdeen, Inverness, Dundee, Edinburgh and finishing in Glasgow at the end of February. The aim of the project has been to raise awareness of Fragile X Syndrome and the importance of timely and accurate diagnosis. It has also enabled us to officially launch our new information packs for professionals. The roadshows have been a remarkable success with over 120 professionals attending. As well as talks about fragile X and the Fragile X Society, they included talks from local genetic counsellors and family members. The range of professionals attending have included consultant paediatricians, OT?s, Health Visitors, and Learning Disability nurses from a range of disciplines.
Thanks to the Awards for All who made this piece of work possible.
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Can we use Virtual Reality to help with sensory problems? New project : Dynamic Int eract ive Navigat ion f or Famil iarisat ion and Desensit isat ion I am very excited to let you know about a new project that is underway. Although, the project will be based in Scotland, it will not just include participants from Scotland and it will be much wider in its reach, both nationally and internationally. The Fragile X Society, along with the Patrick Wild Centre have been asked to be part of an advisory group for this research project. This is particularly important as it is looking at the very real issue that our children, young people and adults with fragile X syndrome deal with on a day to day basis; having to deal with the sensory world around them and the challenges that entering a busy environment can bring. Funded by the European Social Fund and The Social Innovation Fund from the Scottish Government, Friendly Access, Crag3D Ltd and the School of Simulation and Visualisation at The Glasgow School of Art have become pioneers, applying gradual sensory exposure through mobile Virtual Reality to empower people with hidden disabilities to overcome their barriers in an airport environment. It uses Virtual Reality (VR), a computer graphics technology, to enable the user to engage in a realistic or imaginary situation within a digitally generated environment. The first part of the project has been completed and was piloted, using mobile phones, amongst a small group of adults. Watch here: https:/ / www.youtube.com/ watch?v=BV3CJs-niNM The project has now received a second round of funding and the aim is to impact positively on the lives of those who experience sensory challenges in airplanes, education, when seeking work and in other busy environments. To enable this to happen the project are looking to try out the technology amongst a wider group of people. It will be aimed initially at individuals aged 16 and over and the team are still in the early stages of planning the next phase. However, we wanted to let you know about this piece of work as it might be something that our young adults could be part of. If you woul d l ike t o f ind out more pl ease cont act sandra@f ragil ex.org.uk A big t hank you I wanted to say a huge thank you to the Society (particularly Craig McDonald and Steve Harris) for supporting me whilst completing my PhD. Thank you too to the families who took part in the research. I look forward to writing up our findings for you and via the newsletter. I am delighted to have now passed my PhD and look forward to continuing my work for the community via the Society. All the best, (Dr!) Becky Hardiman (CEO)
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Council Tax Reduction Schemes Some useful information from Jane
Here?s a short reminder about this, but, please seek further advice from your local Citizens Advice Bureau (CAB) if you need to. I have used the CAB?s online advice guide here. For f amil ies l iving in Engl and. If you?re on a low income you may be entitled to some help in terms of a Council Tax Reduction (CTR). It?s important to remember that each local authority has its own CTR scheme. So, schemes can differ widely between authorities. You must live in the property where you are applying and you must be responsible for paying the council tax bill. The following link gives information about how to make a claim for a council tax reduction. https://www.citizensadvice.org.uk/benefits/help-if-on-a-low-income/ help-with-your-council-tax-council-tax-reduction/council-tax-reduction-making-an-application/ council-tax-reduction-how-to-apply/ Most schemes will stop people from applying who have too much capital (savings and own some types of property). If this is the case you may be able to apply for a second adult rebate. To decide whether you?re entitled to a second adult rebate the council will check to see if you have someone eligible as a second adult and then they will work out their income. See the following link from the advice guide for more information https://www.citizensadvice.org.uk/benefits/help-if-on-a-low-income/ help-with-your-council-tax-council-tax-reduction/council-tax-reduction-and-second-adult-rebate/ The income of some second adults can be ignored completely if they are people the council would have ?disregarded? as living with you at the time they work out any reductions. This group includes people who have a ?severe mental impairment? or SMI. The criteria for SMI, as far as I understand it, includes being eligible for certain benefits and to have medical evidence to confirm this. So, this may apply to some families. The following link from Carers UK has more detailed information about CTR schemes (including Wales and Scotland) and gives information about carers disregards. This is another possible way to reduce your council tax bill. If you can?t download this and would like to see the information please let me know and I can print it off for you. https://www.carersuk.org/help-and-advice/financial-support/ help-with-household-finances/council-tax-rate-relief
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Council Tax Reduction Schemes Some useful information from Jane Continued Your local authority?s website should tell you how to make a claim for a second adult rebate/ carer disregard or alternatively contact your local CAB for more help. For f amil ies l iving in Wal es Council Tax Reduction Schemes or Council Tax Support is run by each local authority. The difference between the schemes is much smaller than in England. If you are on a low income or have adaptations made to the house because a disabled person lives there (I think ) you should contact your local authority for more information. Alternatively get some advice from your local CAB. This link gives a little more information https://www.citizensadvice.org.uk/wales/benefits/help-if-on-a-low-income/ help-with-your-council-tax-council-tax-reduction-w/council-tax-reduction-what-you-need-to-know-w/
For f amil ies l iving in Scot l and There are three types of CTR you might be eligible for. 1. Main CTR-this is if you have a low income. 2. Bands E-H relief CTR. 3. Second adult rebate which can be paid instead of the above depending on the circumstances of the household. This includes SMI. You can only be awarded one of the above. If you need help deciding which one to claim please contact your local CAB. The following link has more information. Families living in Scotland can also contact Sandra and she would be able to access more information for you. https://www.citizensadvice.org.uk/scotland/benefits/help-if-on-a-low-income/ help-with-your-council-tax-council-tax-reduction-s/ council-tax-reduction-making-an-application-s/council-tax-reduction-are-you-eligible-s/
I do hope this gives an idea of what Council Tax Reduction schemes might be available. There should be information on your local authority?s website as well. If you can?t access the links given here please let me know and I can download information for you. Please remember to contact your local CAB for more information and support. Thank you to Sharon for requesting a piece on this topic. If there is something you would like to know more about, please contact: info@fragilex.org.uk
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Bringing together interdisciplinary interest: an Oxford Fragile X hub? Gaia Scerif and Jonathan Herring organised a seminar on Fragile X at Exeter College, University of Oxford on 23 April 2018. The title of the event was ?Bringing together interdisciplinary expertise and interests in Fragile X syndrome: An Oxford Hub?? It certainly lived up to its title, drawing in experts from psychology, medicine, education and law to discuss issues around fragile X syndrome. We had four excellent papers. Kirsten Johnson spoke about the experience of a parent of children with fragile X syndrome, emphasising the broad range of services that parents need to draw on. She emphasised the complexity of navigating the system for families. Cressida Auckland from the Oxford University Law Faculty gave a presentation on the Mental Capacity Act and its application to people with learning difficulties. It was particularly interesting to hear about the way the law encouraged the concept of supported decision making whereby someone could be enabled to make decisions for themselves, with the appropriate assistance. Gaia Scerif explained some of her work around education, behaviour and well-being. She explored the work that she and others were already doing around Fragile X in these areas and opened up new possibilities for research. Jonathan Herring gave a paper exploring the legal and ethical issues around testing for Fragile X and particularly when the results of tests should be passed on to other family members for whom they have significant consequences. Perhaps the most exciting part of the day was the discussion after lunch when there was an exploration of developing a Hub of expertise on Fragile X in Oxford and indeed in other places. It was clear that such a hub would need to draw on the resources of academic and practitioners in a wide range of disciplines: from medicine to education; from law to physical therapy. It was agreed that future meetings would be held to develop the hub and explore ways of funding it. It was exciting to see so many people with special skills wanting to move forward with research and practice on Fragile X. It will be fantastic if hubs in Oxford and elsewhere are developed which can bring together experts on the issues raised by Fragile X and to provide integrated support for people with Fragile X and their friends and families. Jonathan Herring
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Welcome to Our Fundraising Pages Thank you t o t he Rot ary Cl ub of Brent wood f or t heir kind donat ion of ÂŁ350 Andrew Hargreaves of the Rotary Quiz Committee: ?The Rotary Club of Brentwood recently hosted its monthly Quiz Night and we chose the Fragile X Society to be May?s beneficiary because we know and understand the value of the work that it does, supporting families of those affected by Fragile X Syndrome and also because although national, it is such a small organisation. It was a great event, good fun with lots of laughter and we are both proud and pleased to be able to donate the profits from the evening which come to ÂŁ350. We wish you all the very best for the future and hope that this donation helps make a difference where it is needed?. Good l uck t o Chris, Graham and George in t he Devon X Chal l enge Chris Gibson: ?On 14th and 15th June, I will attempt to cycle over 300 miles across Devon with over 16,000 feet of climbing, only stopping for food, water, cramp and to go to the loo! In essence, I will be cycling with no sleep for 35 hours. The plan is to make an "X" across Devon in order to raise awareness and money for the Fragile X Society?. When we received Harrison's Fragile X diagnosis, which was at the time devastating, the Fragile X Society was the only place we could turn to for support and advice on what the future would hold for us as a family living with Fragile X Syndrome. With their help, Harrison has already surpassed expectations and continues to amaze us every day. Since starting his special needs school in September, Harrison has blossomed into a chatty, confident little boy whose smile continues to light up any room he enters. He inspires us as a family and I will no doubt be drawing on that as I cycle across Dartmoor at 3am!
If you would like to support Chris in his epic cycle challenge, please visit his online fundraising page at: https:/ / www.justgiving.com/ fundraising/ chris-gibson19
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Welcome to Our Fundraising Pages Wel l done and congrat ul at ions t o Kim Jef f ryes and her sist er Rebecca and brot her-in-l aw Dan f or t aking on t he London t o Bright on t rek (yes, t rek!) Kim Jeffryes ? Trekker extraordinaire ?Words cannot describe the mixed feelings we had leading up to the event. To walk from London to Brighton, straight through the night, is daunting but we knew we could and would do it. And we did. It wasn?t easy but we went prepared with good (and bad) jokes, play lists and calorie laden treats. When tiredness hit us hard, we talked about why we were doing this mad insane thing and that was a great help. When we saw our family at the finish line, that was emotional. We were drained, exhausted, humbled and elated. But above everything else, we felt proud. Proud to have helped raise funds for such an amazing cause. Thank you for being there for us Fragile X Society. Every step was worth it?.
If you would like to support Kim by donating to her online fundraising page, please visit https:/ / fragilextraordinary.everydayhero.com/ uk/ kim-s-walk
Finally, a special thank you to Hayley and Sam who spoke on behalf of the Fragile X Society at Plym Lodge, who donated ÂŁ764.20. Thank you also to Ej Heaford who nominated our charity for support!
Congrat ul at ions t o our 100+ Cl ub winners!
The 100+ Club is an annual subscription scheme with opportunities for you to win monthly cash prizes of up to ÂŁ100! As well as the chance of a prize, the regular income from our subscribers is so valuable for helping us to continue our work. To find out more visit: http:/ / www.fragilex.org.uk/ 100-club-fxs
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March 2018
April 2018
Avis Carter
Andrew Sutherland
Paul Gray
Lyn Morgan
Jean & Mike Evans
Joyce & Roger Chapman
Dale Wren
Martha McEvoy
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Gillian's London Marathon Story Our charity was very fortunate to gain a charity space for the 2018 Virgin Money London Marathon via the Charity Ballot. Thank you to all those who applied to run for us. In this section, our chosen runner Gillian shares her story.
In t ot al , Gil l ian raised over ÂŁ16,000! Thank you so much f rom al l of us. WOW WOW WOW !!! What an incredible experience I LOVED IT From when I found out I had been successfully selected by The Fragile X Society in December the whole of 2018 has been gearing up to this point. We have been busy with all our planned fund raising activities and the ÂŁ5000 target which I had set was smashed!!! It was then down to the serious business of training which was going well until we were hit by The Beast from the East, it was hard going out for long runs on my own and keeping the mileage up. As the date drew nearer the niggley aches and pains started!! The weekend started after work on Friday when I had blue extensions added to my hair as Stuart and Matthew had come up with the blue hair idea. When I arrived home 2 friends were waiting to wish me luck and had a bag of goodies to set me on my way. It was an early start on Saturday morning as we were on the 7am flight so we left the house at 4:30am!!! My supporters were Stuart & Matthew, my sister Susan, school friend Rebecca along with my Aunt & Uncle who were flying from Inverness. We met as planned when we arrived at Gatwick and headed straight to the excel centre so I could collect my number. We could have spent all day there viewing the exhibits but following advice we kept the visit short. We were now back in the centre of London walking down a street when I got the shock of my life to find the 2 best friends who had been round wishing me luck the night before walking towards me!!!! Needless to say I was speechless some would say a first. Stuart & Matthew did a fantastic job in raising awareness with the Fragile X Banners as we chilled in the afternoon near Tower Bridge and they certainly turned a good few heads walking over it with the banners over their shoulders each like superman!! Onto the day itself I was up with the larks to get myself to the start, as I was coming out of the station a lady called out my name and said she had read about me in the paper, turned out she was from Peebles but had moved away but still kept up with local news and I had just been told the
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Gillian's London Marathon Story Continued week before that she was also running - amazing with all the thousands of people but I had myself a buddy to spend a few hours with at the start. It was a beautiful day so didn't need to keep warm, watched the women's race start on the big screen in the park and I found the emotions starting to bubble up. I needed to go to the toilet at least 3 times before entering the starting pen. It took 48 minutes after the Queen had started the Marathon for me to cross the start line but I was off. The crowds lined the streets from start line the whole 26.2 miles and people called out your name from the very start too. To begin with I thought it was someone who knew me but then quickly realised having my name on my running vest front and back was the reason for the cheers. There were bands on the route, choirs, drummers, pubs with music blasting out as well as people running in costumes to distract you. Water was at every mile after 3 miles along with Lucozade sport energy drinks. The big charities were well noticeable with the large amount of merchandising, clappers, balloon, banners and supporters!! People lined the streets offering jelly babies and sweets and the mile markers ticked by. I had decided to break the run into 5km sections and dedicate it each 5km to a member of my support team to mentally pass the time and each mile I ran I remembered I had raised ÂŁ500 for the Fragile X Society. I also managed to bump into Craig along the route which was lovely and again incredible given the number of people there. I knew that my supporters were going to be at mile 14 which really spurred me on and by that time I was over half way. I could hear the boys cheering for me before I could see them and they welcomed me by shaking a bottle of water Formula 1 style all over me. By this time it was mighty warm, so the showers along the route were fab as were the fire engines hosing the runners to help cool down. The area around Canary Wharf was tough but at least there was some shade from the shadows from the magnificent buildings. I had to dig in deep a few times but the knowledge that I would see my supporters again really helped. Then I was on the homeward bound 5 miles to go and much easier with more familiar landmarks which really caught your breath. It's hard to put into words the emotions which took over running round Westminster and up Birdcage Walk, coming round Buckingham Palace then your there you can see it..... The finish and the tears start!!!!! To sum up to run the London Marathon, a lifetime's ambition comes true, the level of fundraising overwhelming, and raising awareness of Fragile X completely Extraordinary!!! Thank you to everyone who supported me but especially to our boys Stuart and Matthew - you are absolute stars being at the forefront of raising awareness, so proud of you and we love you to bits!!!
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Our extraordinary own ballot London Marathon runners! As well as our own-place runner we are so grateful to those who chose to run for us via their public ballot entry! Together our amazing runners raised approximately ÂŁ23,000 which makes an incredible difference to our small charity!
Craig I was so shocked when I heard I had obtained a place in the London Marathon through the public ballot ? but so pleased. Then it sunk in ? it was a big commitment and although I wanted to run it, I needed to be sure I really could do it, so it wasn?t until I had completed a half marathon as part of my training that I went public and told friends and family. The actual marathon experience was unforgettable for so many reasons, but then so was the fundraising. It humbled me how amazingly supportive and generous friends, family and work colleagues were. My son Thomas has Fragile X Syndrome so my fundraising was always going to benefit the Fragile X Society, so maybe that was a help; people simply recognised how important the Fragile X Society was to me and my family. In running the marathon I had three aims: to challenge myself, to raise funds for the Fragile X Society and to raise awareness. The aching legs, the money raised and the many conversations in which I have shared since going public, indicate a job well done and the Fragile X Society is helped in some small way to continue their work.
Gemma "Do t he best t hat you can....." That was my little mantra that I repeated to myself on the day of the London Marathon. I woke up full of anticipation and nerves. My training hadn?t gone quite to plan as I had picked up a knee injury with 6 weeks to go. I had already deferred my place from 2017 so that wasn?t an option and I desperately didn?t want to let any of my sponsors down. I also wanted to bring home a medal for my children (both FX) and make them proud of mummy.
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Our extraordinary own ballot London Marathon runners! The crowds were amazing. Cheering you on, offering words of encouragement, holding up signs for their loved ones. People were handing out jelly babies, sun cream, you name it, they had thought of it. The atmosphere was electric. The views were amazing and I actually stopped and took a breath and said ?wow? as I turned the corner onto Tower Bridge. I had watched runners do this on the television before and now I was doing it myself. A shiver ran down my spine and a smile spread across my face. I was nearly halfway there and I was enjoying every minute of it. Not long after my knees started to hurt and I truly believe the crowds and the atmosphere got me through it. Mile turned into mile and my ?do the best you can? mantra went round in my head. Eventually I started running down the Embankment and I knew I was on the home stretch. There was no giving up now! As I crossed the finish line I couldn?t quite believe it. I had been part of something truly amazing and the sense of achievement and satisfaction was overwhelming. I collected my medal and someone asked me if I?d do it again. My answer; Hell yes!
Maddie In October, after several years of trying, I found out I had been successful in securing a ballot place for the London marathon 2018! This was such exciting news for me and meant that I could choose a charity and I knew already that I wanted to run for The Fragile X Society. My best friend Jemma and her partner Matt have two children together, who have both been diagnosed with Fragile X Syndrome. Receiving the diagnoses was a very distressing and worrying, this was a condition that neither of them had heard of or knew anything about. Seeing Jemma come to terms with the diagnosis and doing everything she could to learn about the condition and ensuring her boys get all the help and support they need has been incredible. They face new challenges everyday and The Fragile X Society have been and continue to be there to support her every step of the way. I know she is extremely grateful for all of the guidance and support she has received from them. When I got my place in the London marathon I knew it would be a great opportunity to show my appreciation for everything they have done for Jemma and her family.
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Our extraordinary own ballot London Marathon runners! The big day! I woke up on the Sunday morning to a beautiful sunny day without a cloud in the sky. Usually this would be a good thing but knowing that I would be out there running in it for several hours only added to the nerves (I certainly hadn?t had the chance to prepare for this in training!). I set off from the hotel with my partner to see anxious runners everywhere. We got on the very crowded train from London bridge to Blackheath where blue start was located and the atmosphere was electric. Travel was free for runners and there were helpful marshals everywhere to point you in the right direction. Everything at the start was so well organised and everyone I met was very friendly. Before I knew it we were off! There really is no way of describing how it feels to run in this incredible race. I felt totally overwhelmed on more than one occasion at the support of all the spectators and hearing ?Go on Maddie?and ?You can do it Maddie?to name just a few, shouted by complete strangers who had spotted my name on my top was very special. The race was difficult and extremely hot but the weather did bring out a huge number of people right around the course and they really carried everyone right to the end. Despite the numbers I was thrilled to spot some supporters associated with the charity who gave me a big cheer as I passed. In just over 5 hours I had crossed the finish line. It was a painful run especially the second half but it was also wonderful, hair-raising and completely awe-inspiring. I would recommend it to anyone that has considered giving it a go, you won?t regret it, it really is an unforgettable and extremely special experience. More importantly though I hope more people are encouraged to run for this amazing charity, The Fragile X Society. Thank you for all you do, I am so pleased in this small way to be able to give something back.
London Marathon 2019? A plea to those of you who may be lucky enough to secure a ballot place in the 2019 Virgin Money London Marathon via the public ballot; we hope that these stories have inspired you and please do consider running and raising sponsorship for the Fragile X Society. We would be so grateful and would be proud to have you on board. Please also spread the word to any running friends, family or colleagues who may be interested in supporting us.
Unfortunately, given that we had a charity ballot place in 2018 we are not able to secure any charity spaces in 2019, so your support is even more important than ever Another event? Any event you want to tackle to support our cause? Please get in touch! We are here to help every step of the way . fundraising@fragilex.org.uk; 01371 875100 (Option 3).
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Opportunities to participate in research One of our charity's aims is to support research into Fragile X, to improve understanding and support for everyone living with the various effects of the Fragile X-associated conditions. Included in this section are details of some ongoing research studies that are seeking participants. All studies have been reviewed and approved by a Specialist Adviser and family members via our Research Committee.
Fl exibl e schedul ing: Devel oping a new st rat egy f or prevent ing chil dren?s dif f icul t ies wit h changes t o rout ines or expect at ions Research team: Dr Kate Woodcock and colleagues (University of Birmingham) Following on from the Predictors Project, a new study by Dr Kat e Woodcock and her research team at the School of Psychology, University of Birmingham aims to develop a new strategy that we hope will prevent the development of some of the difficulties that children can experience with changes to their routines or expectations. We are interested in working with families with children with f ragil e X syndrome, autism spectrum disorder and Prader-Willi syndrome who are aged between 5-12 years. The research involves taking part in telephone interviews and group discussions with researchers, in person at the University or remotely via webinar, and testing the new strategy we develop at home. We appreciate that families are very busy, so don?t hesitate to enquire about how best you may be able to engage with some of these activities. By the end of the study we hope to have developed the strategy so that in a future study it can be tested to evaluate whether it is effective or not. A short video explaining the study is available at the following link: www.katewoodcock.com/ flexible If you might be interested in taking part or would just like to find out more, please get in touch with either Siobhรกn Bl ackwel l on +44 (0) 121 414 3335or at s.blackwell@bham.ac.uk, or Dr Kate Woodcock on +44 (0) 121 414 6036 or at k.a.woodcock@bham.ac.uk. Or in writing at School of Psychology, 52 Pritchatts Road, University of Birmingham, Edgbaston, Birmingham, B15 2TT.
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Social int eract ions in chil dhood Research Team: Ellen Ridley, Emma Jewitt and Dr Debbie Riby, Durham University. Ellen and Emma are investigating the social behaviours and interaction styles of children with a range of developmental conditions including fragile X syndrome. They would like to invite families with children aged between 4 and 16 years to complete an online survey which will ask questions about their child?s social interactions, how they engage with peers and adults, their communication style and their independence. The survey is online and will take between 30-45 minutes to complete, you will be able to take a break and return to it later, if you wish. If you are interested in participating please click here to complete the survey online: (https:/ / durham.onlinesurveys.ac.uk/ social-motivation-throughout-childhood) or for further information about taking part, please email Ellen or Deborah. Ellen Ridley ellen.ridley@durham.ac.uk or Deborah Riby deborah.riby@durham.ac.uk.
How does at t ent ion mat t er t o l earning and memory? Research Team: Dr Jacalyn Guy, Elise Ng-Cordell and Professor Gaia Scerif, Oxford University. The aim of the study is to find out how social distractions (like those you would find in the classroom) affect learning and memory in boys and girls aged between 13-17 yearswith fragile X syndrome. For more information about the study and taking part, please email Jacalyn, jacalyn.guy@psy.ox.ac.uk, Elise, elise.ng-cordell@psy.ox.ac.uk, or Gaia gaia.scerif@psy.ox.ac.uk. For families who have already volunteered in studies led by Gaia, the team really looks forward to hearing from families again.
Underst anding Social Abil it ies and Aut ism in Fragil e X Syndrome Research Team: Jennifer Glennon and colleagues, Birkbeck Babylab, London There is an exciting study taking place at the Birkbeck Babylab, London, to better understand social abilities in children with fragile X syndrome aged bet ween6 and 10 years.The study involves playing games and puzzles, watching television (eye tracking) and wearing a 'science' (EEG) hat. In total, it takes about 2 hours to complete. It's a very relaxed setting - there's no pressure on children to complete any or all parts of the study - and travel/ accommodation expenses associated with your participation will be reimbursed. Also, we test on weekends, as well as week days, so you won't need to miss any school. If you have any questions about the study and/ or would like to take part, I would love to hear from you.For more information and/ or to take part, please contact Jennifer Glennon by email at mailto:jglenn01@mail.bbk.ac.uk.
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Chil dren and Young Peopl e wit h Fragil e X Syndrome: Behavioural Phenot ype and Support Needs Research Team: Jen Daffin, and Dr Dougal Hare, Cardiff University. Jen Daffin is gathering information from parents and carers to explore how families are finding the support they receive from services. Using this information she also wants to explore how different people?s FXS difficulties get assessed and supported by services. The findings from this work will then be used to inform how to better design and/ or deliver services to meet the needs of people with FXS and their families. Taking part involves filling in an online survey, which should take no longer than 30 minutes. If you are the parent or carer of a child with Fragile X Syndrome under t he age of 16 and you would like more information or to take part, please click here to complete the survey or email Jen (daffinj@cardiff.ac.uk) for more information.
Fragil e X Syndrome Research Workshop 2019
We are delighted to have partnered with our friends at the Patrick Wild Centre to host our second Fragile X Syndrome workshop. The aim of these workshops was to bring together the research community who are either currently involved in, or who are interested in, Fragile X Syndrome research. We are keen to promote further interactions amongst UK-based (and EU-based) researchers who investigate the condition, with a view to supporting the development of work addressing key issues of concern to those individuals and families living with fragile X. Recordings of the three fantastic keynote talks are available to watch on our Facebook page: -
Dr SĂŠb ast ien Jacquemont : Clinical trials in Fragile X syndrome. Lessons learned and implications for neurodevelopmental disorders Prof essor Jeremy Turk: Research & Clinical Practice; where we have come from and where we might be going Craig McDonal d: Fragile X Research: A Parent's Perspective
ht t ps:/ / www.f acebook.com/ pg/ t hef ragil exsociet y/ videos/
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The Fragil e X Societ y ? here t o hel p support you wit h inf ormat ion, guidance and advice For individual s and f amil ies - We provide the latest information, resources, literature and publications about Fragile X and enable peer-to-peer support networking through online forums and our family weekend conferences, training and events. We also offer support and opportunities to take part in research into Fragile X Syndrome and Fragile X carrier effects.
For prof essional s - We offer helpline support, resources, e-learning and training to educate about Fragile X.
How t o cont act us You can now contact all of our team via the main information number 01371 875100 - For our Hel pl ine in Engl and, Wal es and Nort hern Irel and Available Tuesday 9am-5pm, Wednesday 1pm-5pm and Thursday 9am-5pm. - Tel ephone 01371 875100, option 1. Email info@Fragilex.org.uk. - For our Hel pl ine in Scot l and Typically available 9am-5pm Monday-Thursday. - Tel ephone 01371 875100, option 2. Email sandra@Fragilex.org.uk. - For f undraising and chal l enge event inf ormat ion and support - Tel ephone 01371 875100, option 3. Email fundraising@Fragilex.org.uk.
One more t hing... With no Government funding, we depend entirely on voluntary donations so your support really is vital. Without your kind help and support, along with your local knowledge and connections, we couldn?t do what we do, so please keep your eyes and ears open for opportunities to help us raise funds. This is the time to brainstorm with friends, research a few local ideas to keep the momentum going and put plans in place to help us have a fruitful 2018. If you would like any further information on fundraising, volunteering or the different ways you could help support us, please either phone 01371875100 (Option 3) or email fundraising@fragilex.org.uk
Charit y Regist rat ion Number: 1127861 Scot t ish Charit y: SC047332 Company Regist rat ion Number: 6724061
www.fragilex.org.uk
ISSN 1745-1469