Newsletter issue # 90 | November- January
Famil y St ory: Me and My Brot her (Pages 4 - 5)
Fragil e XE and Me: Charl ie's Document ary (Page 7)
www.Fragilex.org.uk
New Videos (Page 12)
Top Tips f or Managing Christ mas (Pages 8-9)
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issue # 90 | November 2017 - January 2018
Welcome! Chair's Introduction Craig McDonald As we start to approach Christmas 2017 and speed rapidly towards the new year, I thought I would take time to reflect briefly on another successful year with the Fragile X Society. There is really too much to mention and when we reflect as an organisation we can all be incredibly proud of the work and support everyone gives. I have highlighted a few key aspects here and hope you find the newsletter both informative and interesting. Updat e about t he Charit y During the course of the year, we continue to acknowledge that there is significant work to do to ensure we maintain our long term sustainability as an organisation, especially from a financial perspective. Whilst we remain hugely grateful to everyone who supports us through fundraising activity and making donations large or small, our financial position will remain at the forefront of the Board?s attention for the foreseeable future. For that very reason, we took the decision to recruit a full time Fundraiser, which now means for the first time we have full time dedicated resource to focus our attention. We therefore welcome Barbara Burnett as our Head of Fundraising, some of you may have met her at our family weekend at Thomley and you can also hear from her on page 18. Famil y Weekend and AGM That brings me on nicely to our event held in late September at the Thomley Centre in Buckinghamshire (find out more on page 6). In the past we have held Annual Conferences in Birmingham and Stirling although received a lot of feedback asking for an event accessible for whole families, rather than mainly parents. There is more information in this newsletter about Thomley but I would highlight here just how amazing it was to see over 90 adults and over 50 children & young adults enjoying themselves in the wonderful setting of Thomley. It was an incredible weekend, one I personally hope we repeat as the feedback has been very very positive. I would add a personal thanks to Tally Nothey and Becky for their hard work, passion, and diligence in making it happen. There were a number of external parties in attendance, and again I would add my personal thanks to all of those who supported it in one way of another, as well as Thomley Centre itself for it?s incredible support. We also hosted our AGM during the weekend and said goodbye to some of our Directors and welcomed some new members to the team. Learn more on pages 16-17. Updat e f rom t he Team Finally, it is important you all know, and hear from me, that Becky Hardiman our CEO will be
www.Fragilex.org.uk
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Welcome! Chair's Introduction Continued taking a short sabbatical in quarter 1 of 2018. Becky is in the final stages of completing her PhD, researching Fragile X Syndrome. Therefore, she needs to focus on completing that work in 2018, without having to juggle her studies with the CEO role of the Society. Your Board discussed the situation at September?s Board Meeting and agreed that it is in everyone?s interest (but especially Becky?s) that we support her request for this period of absence. I would like to take this opportunity to personally thank Becky for the huge contribution she makes to the Society and the wider network of Fragile X, and to wish her all the best as she works to complete a key milestone in her academic life. Keeping her seat warm for the short time she will be away, I am genuinely delighted to advise that Steve Harris (former Chair of the Board) has offered to step in on a temporary basis as acting CEO. Steve knows the charity and many of the people very well and is perfectly suited to cover for Becky in the short term. As a result, from 1st January to end March, Steve will be the CEO for the Fragile X Society, and you will be able to contact him on st eve@Fragil ex.org.uk. Thank you Steve from everyone for your enormously kind offer to support, and I look forward to working with you again in early 2018. Wishing You a Merry Christ mas and a Happy New Year I think that?s probably all from me, other than to thank all families, researchers, supporters, donors for your incredible support in 2017. I do hope you all have a great Christmas with families and loved ones ? I know that some of our families and children will find it a really anxious and extremely exciting time of the year which in some cases also make it a very difficult time of the year (see some tips for managing this on pages 8-9). Our thoughts are with you all. Merry Christmas (when it comes) and all the very best for the new year in 2018. Thank you, Craig McDonald (Chair)
Issue Cont ent s 4-5
Story: Me and My Brother
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Charity Update: New Videos
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Charity Updates: Family Weekend
13
Charity Update: EFXN
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Charity Updates: FRAXE and Artistic
14-15 Fundraising Updates
8-9
Top Tips for Christmas &
16-17 Meet the Charity's Board
Christmas Card Order Form
18-19 Research Updates
10-11 Fragile X Awareness Day
www.Fragilex.org.uk
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Contact Us
@Fragilexuk
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Family Story: Me and My Brother Isabel l a's St ory Hello, my name is Isabella and I am 11 years old. I love hockey and I have just started secondary school. I have twin brothers and one of them has Fragile X, Autism, ADHD and A LOT of allergies, he is called Percy. Percy is 7 years old and he loves swimming. His twin brother is called Roscoe and he doesn?t have Fragile X. Lif e wit h Percy? I love Percy more than anything, he loves it when I come swimming with him. He would go swimming 3 times a day if he could! To be honest Percy is just Percy to me but I suppose it?s what other people think about him which I find hard. He often has meltdowns when we are out and everyone stares, I really hate it when everyone stares. He is really cute and he says really funny things which makes us all laugh a lot. When I was at primary school with him, other kids liked him because he is never nasty or mean he just plays funny things like ?You?ve Been Framed? and pretends to fall over. I suppose I have got used to life with Percy. In the car he finds going out difficult so we have to listen to whichever his favourite song is on
I love Percy more than anything. www.Fragilex.org.uk
repeat all the time. At the moment it is ?Hard knock life? from the new Annie film. When we came up to Oxford for the conference from Cornwall that is 6 hours of Hard Knock life!!! At home he watches ?I can cook from CBeebies?on repeat!! I wish we could all go on holiday together. When we go on holiday me and Roscoe (Percy's twin) go on holiday with one parent and Percy has to stay at home with the other parent. It sort of makes you feel bad that we are having a fun holiday and we really miss him but he just wouldn?t be able to go on holiday. I worry about him when he is older and I know my mum really worries about what will happen
@Fragilexuk
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Family Story: Me and My Brother Continued to him when he is older. I know I always want to live quite near to him so I can see him a lot. I feel really proud when he does something new or says a difficult word. One of his favourite places to go is Pizza Express. Luckily they know him really well, so we all laugh when he goes round checking the wine glasses are all shiny enough and going up to people saying ?Hello lady, hello man!? Sometimes me and mum say if you could take his Fragile X away from him would you? And we can never answer because It?s sort of what makes him so cute and funny. You don?t want him to have a difficult life but you don?t want to change him either because it?s just him.
We all love him at school because he is funny. I don?t want him to go to a different school to me but I can see why he has to.The other school was nice, it had a really cool sensory room and a play area I think he would like that. But I don?t know if he would be able to talk as much, because the other kids in his new class couldn?t talk as well as him. Also I like checking up on him and making sure he?s OK, so when he goes to the different school I think I will worry about him more.
Roscoe's St ory Hello, my name is Roscoe, I am 7 years old and I like hockey, swimming, football and breakdancing. The other day I had to look round a school for my twin brother Percy. We have always been in the same school but he is finding it too difficult. He still can?t read and write and he?s always running out of the classroom with his Teaching assistant chasing him. He thinks its really funny and shouts ?come back Percy? as he runs away!
Sometimes me and Mum say if you could take his Fragile X away from him would you? And we can never answer because It?s sort of what makes him so cute and funny. Thank you so much Isabella and Roscoe for sharing your story. We are so grateful.
www.Fragilex.org.uk
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Charity Updates Family Weekend, Thomley Centre September 23rd-24th
We were so excited to welcome over 90 adults and 50 children each day to the wonderful Thomley Centre in Buckinghamshire, for our first ever Family Weekend Conference. It was an absolutely brilliant weekend full of great talks and an excellent opportunity for families to get to know each other. Some of the talks included: -
Dr Hayley Crawford: Understanding Anxiety in Fragile X Syndrome. Dr Jane Waite: Understanding and Managing Challenging Behaviour in Fragile X
You can access recordings of these talks on our Facebook page, in addition, you can request the slides by emailing info@Fragilex.org.uk. We are also extremely grateful to our other exhibitors and speakers: Sinclair's Law, Ollie and His Super Powers, Jennifer Stenhouse, Artistic, Home From Home Care, Cerebra Centre, Wellcome Trust (Genetic Screening Study), Auntie Agatha's Big Sensory Shop, Dr Sarah White (University College London). Most of all we are grateful to all the Thomley Centre Team for facilitating this event and making everyone so comfortable and welcome. We hope to hold more events like this in the future, look out for updates in future newsletters!
You made happy times & life time memories this weekend. - parent attending the Family Weekend
www.Fragilex.org.uk
Fragile X UK
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Charity Updates All in All: Partnership with Artistic Artistic are a non-profit mentoring scheme to help develop the artistic abilities, communication and social skills of artists that need additional support. We are so grateful to Artistic for coming to our Family Weekend Conference to facilitate the creation of a very special piece of artwork, which will be auctioned to raise money for the Fragile X Society at an up-coming event in Henley-Upon-Thames. Keep an eye on our Facebook Page for more details! You can also follow Artistic on Instagram at @artistic_uk
Fragile XE and Me: My Life and My Condition Hi, my name is Charlie. I am making a documentary about Fragile XE and what causes it. The film will show how I cope with learning, speech and language, reading, writing and maths. I will tell the viewers about how it affects my body and mental health. Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. -
HOW IT AFFECTS ME. HOW DOES MY LIFE DIFFER WHAT WE WILL SEE MY ATTITUDE TO IT
Charlie is making a documentary about his condition, Fragile XE (FRAXE), for his Media Project. This genetic condition is caused by a change to the FMR2 gene, which is beside the FMR1 gene that is associated with Fragile X Syndrome. FRAXE can share similar features to Fragile X Syndrome, but few people have heard of it. We are very excited to see the finished documentary and grateful to Charlie for raising awareness! If you are interested in learning more about FRAXE, or if you have FRAXE (or have a child with the condition), and would be happy to be interviewed over the phone about your experiences for Charlie's documentary, then please email us on info@Fragilex.org.uk.
www.Fragilex.org.uk
/ thefragilexsociety
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Top Tips for Christmas Christmas can be a very exciting time; it is full of new and different activities, decorations and flashing lights, and people gathering together and making a lot of noise! Of course, for some, the stress or excitement from these changes can be overwhelming or challenging. Here are some strategies that have helped some of our members to manage the busy festive season! -
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Maint aining a rout ine: it can be helpful to maintain consistency through the Christmas period by keeping key aspects of the normal routine the same, such as the times of meals, or the routines for getting ready in the morning. Visual schedul es: Using a calendar or a visual timetable to prepare your child for Christmas day can be really helpful. Though, knowing the individual in this case is important, because for some people highlighting the day and the build up can lead to high levels of anxiety or over- excitement. - We can help you to put these together! Contact Wendy (wendy@Fragilex.org.uk, 01371875100). Preparing f or guest s: If you are having guests over during Christmas, try making a calendar which shows their photos and names to let the person know when they are coming and going. Int roducing decorat ions: Sometimes the new and different decorations can be a bit of a shock. Think about decorating gradually and try to involve the individual in changes to the house e.g. let them handle decorations, or help to decorate the tree in stages. Managing l arge groups: If you are visiting family or friends try to be the first to arrive, so the person doesn?t have to enter a room where there are already lots of people. Spread present s out : A big pile of presents may be overwhelming, so introducing presents one by one can help to make it more manageable. Some people may also find it easier if the presents are not wrapped, to reduce the anticipation of waiting to find what is inside. It may also help to encourage the person to include realistic gifts on their Christmas list, to avoid any disappointment. Christ mas dinner: Dinner time can be stressful, so think about giving the option of eating before or after everyone else. It can also be good to ensure not too much food is on the plate. This can help with sickness too, which can happen when people get over-anxious or excited. Having a f ocus: Giving the person a ?job?, such as giving out the Christmas presents or collecting wrapping paper, can help to provide a focus.
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Top Tips for Christmas Continued - Time-out : Make sure that there are opportunities for quiet-time, or ?Christmas-free-time?. This can involve pre-planning a nap or some relaxing time during the day, especially around times which might be stressful, like when others are opening presents. Also making sure that there is a quiet place available to go to (or be guided to) for some space during the day, if things become too much. Try doing something that the individual finds calming, such as listening to music or watching a favourite DVD.
From all of us at the Fragile X Society, we wish you all the best for Christmas and the New Year.
Christ mas Cards f or a Cause! Christmas is just around the corner, and what better way to send season?s greetings to your loved ones than with one of our Fragile X Christmas cards. We have two lovely new designs this year. These cards help provide important funds for our charity, as well as being a great way to raise awareness. Please visit our website at www.Fragil ex.org.uk/ christ mascards to place your order; cards will be sold in packs of 10 at ÂŁ4 each + ÂŁ3 f or post age. We also accept a post al order f orm (see below) with a cheque made payabl e t o The Fragil e X Societ y. Post to: Fragile X Society, Rood End House, 6 Strotford Road, Gt Dunmow, Essex, CM6 1DA
Name: ........................................................................................ Address: ........................................................................................ ........................................................................................ ........................................................................................ .......................................................
www.Fragilex.org.uk
Quant it y: Shop Window
Tree Fragile X UK
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Fragile X Awareness Day Every year, we mark 10th October (XX in roman numerals) as Fragile X Awareness Day. Originally started as a European Fragile X Network (www.Fragilex.eu) initiative, this date is now marked by the International Fragile X Alliance (www.ifxa.net). In this section we celebrate the achievements of Awareness Day, and look to next year's plans!
Fragil eXpedit ion For the second year, our amazing supporters took on our virtual challenge to collectively travel 8,026 miles, the equivalent of the outline of the whole of the UK. We are so grateful to all those who took part in the campaign, who together helped to raise awareness as well as raising a whopping £3000! Here are just some of those who took part
Sam ran the Yorkshire Three Peaks, raising £514
Brian and his family contributed 87 miles and raised over £250
www.Fragilex.org.uk
Our CEO Becky and her brother Jonny ran the Cardiff Half Marathon and raised £735
Robbie ran the Keilder Marathon, raising almost £500!
The Clarke family contributed an amazing 462 miles and raised £272.
@Fragilexuk
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Fragile X Awareness Day Continued Kat hryn: During October my sister Susan completed 244,334 steps, that?s 114 miles and I raised ÂŁ282.67 for the Fragile X Society. I am thrilled with what she has achieved. Susan says: I really enjoyed walking for Fragile X. The weather was good, I had fun, I feel fitter and lots of people sponsored me. I?m so pleased to have helped the society and people like me with Fragile X. I feel so proud of myself. This is the first sponsored walk I have ever done and I?m already planning for next year. P.S. f rom Kat hryn: not sure I?ll see my pedometer again as Susan is still wearing it and counting her steps. Well done Susan!
On awareness day, my son (Luke) who is 7 years old and has Fragile X syndrome, walked through our local town with his class from school to raise awareness of Fragile X. They walked through the town waving Fragile X flags. I produced a leaflet for the class which detailed information about Fragile X which could be handed out to passers by who wanted to know more information. As the weather was lovely on Tuesday, the class finished off the walk in a local cafe where the children enjoyed ice cream and milkshakes, still waving their Fragile X flags. They collectively walked 20 miles! Carol ine
Fragil eXpedit ion 2018: Round t he Worl d Over 20 million men and women worldwide are affected or at risk for developing a Fragile X-associated Condition, including: Fragile X Syndrome, Fragile X-Associated Tremor/ Ataxia Syndrome (FXTAS) or Fragile X Premature Ovarian Insufficiency. The vast majority of these individuals have no access to diagnosis or support. So, in 2018 we are partnering with other Fragile X organisations around the world to raise awareness by taking on the virtual challenge of travelling the 40,000km around the world, sharing experiences of life with Fragile X in different countries. Watch this space!
www.Fragilex.org.uk
@Fragilexuk
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23rd - 24th September 2017
Charity Updates New Fragil e X Syndrome Video Series Awareness Day Video Launch St at ist ics -
Over 126,000 people reached Over 1,000 people shared the video with their own networks 43,000 views
There were even more views across YouTube, Twitter, Instagram and our website
We are so excited to have launched our new video series about Fragile X Syndrome. This series of short videos (around 5 minutes each) covers the key aspects of the condition through interviews with individuals with Fragile X Syndrome and their families, as well as experts in Fragile X. We are so grateful to all the families that took part in the filming, as well as to Professor Jeremy Turk, Dr Andrew Stanfield and Dr Angela Barnicoat who shared their expertise. In addition, we would like to thank Steve Crawford for creating the videos and to Dr Hayley Crawford for volunteering her time and expertise to this project. These videos will be a key resource for both families and professionals. You can watch them on our website: www.Fragilex.org.uk or on our YouTube channel (The Fragile X Society, UK):
Videos in t he Series -
Introduction to Fragile X Syndrome Girls and Women with Fragile X Syndrome Genetics and Diagnosis Adulthood and Looking to the Future The Role of the Fragile X Society Plus: Meet the Families in the Videos
In addition, we have another new video on experiences of diagnosis created thanks to funding from Big Lottery Awards for All Scotland.
Web l ink: goo.gl / pGv3re Creat ed t hanks t o f unding f rom:
www.Fragilex.org.uk
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23rd - 24th September 2017
Charity Updates
Becky (CEO) and Craig (Chair) attended the 8th meeting of the European Fragile X Network in Nyon, Switzerland, hosted by the Swiss Fragile X organisation: FRAXAS. There were representatives of 12 organisations from 11 countries present at the meeting. As always, the network is a special chance for us to share experiences and resources and to consider how we can all best work together for the benefit of the Fragile X Community. It was great to hear from Fragile X Expert Dr Rob Willemsen about the latest research on "Fragile X Syndrome: From Genetics to Targeted Treatment" which was a summary of a recent book he co-edited with Dr Frank Kooy of the same name (Becky Hardiman and Jorg Richstein from the EFXN, along with Jeff Cohen from the National Fragile X Foundation in the USA contributed a chapter to this about Parents Perspectives on Fragile X Research). You can watch a recording of this talk on the EFXN facebook page (link below).
To find out more about the EFXN: -
Website: www.Fragilex.eu Facebook: https:/ / www.facebook.com/ EuropeanFragileXNetwork/
www.Fragilex.org.uk
@Fragilexuk
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Welcome to Our Fundraising Pages Autumn and winter are often quieter times for fundraising but we like to think of it as a pause for preparation. A time for thinking about how our supporters could make the world of difference to the Fragile X Society by recognising or perhaps creating an opportunity, to help us raise the vital funds that are so badly needed. Christ mas. Christmas is just around the corner and there may still be opportunities within your community for fundraising support.Perhaps your local church supports a chosen charity every year when it hosts a Christmas fete or carol concert. If it is too late for consideration this year, could you enquire about the timing to nominate the Fragile X Society for next year?s event? Photo location by the School s. The same goes for schools and it is always worth exploring if kind courtesy of the they ever support a charity for a year-long partnership.This kind of Magic of Christmas; opportunity brings a unique chance to raise awareness of Fragile X as well as much needed funding so it really is worth exploring if you can. www.themagicofchristmas.net Summer event s. Think about the summer events that are hosted and organised by your local community and enquire if it is possible to nominate the Fragile X Society as their beneficial charity. Perhaps the local Rotary Club do a charity Santa Sleigh visit, or the County Show is hosted by your town. Think also about your local Town Centre Management or shopping centre? do they support charities when they host their seasonal events? These wonderful community driven organisations always welcome nominations so a quick phone call or email really can make all the difference.There is so much to gain from asking, and very little to lose. So it really is as simple as that. Just share the opportunity with us by email or phone, and we can follow it through from there. We do hope you might be able to pop your fundraising hat on for us ? just sharing an opportunity is all it takes to make the world of difference. Thank you ? and our very best wishes to you all for a wonderful Christmas and a very Happy New Year. Barbara Burnett, Head of Fundraising Our 100+ club is a fundraising scheme with monthly cash prizes. Congratulations to the following winners -
Sept ember 2017: Vicki Laing, Iris Hunter, Finlay Lockie, Elaine Kidd Oct ober 2017: Pauline Ormerod, Claire Moorman, Helen Brennan, Elizabeth Edward
If you'd like to join our 100+ club please visit: www.Fragilex.org.uk/ 100-club-fxs
www.Fragilex.org.uk
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Fundraising Updates Did you know? Last year our support workers responded to 1,070 enquiries via our helpline- a 25% increase on the year before. We remain the only charity providing specialist support to the UK Fragile X Community.
Thank you to our kind supporter who placed six counter top collection boxes in her local village ? what a star!
Congratulations to the new Ladies Captain of a private Golf Club who has chosen the Fragile X Society as her clubs charity of the year. We are so grateful and wish you and the ladies all the best for an exciting fundraising year.
Thanks and good luck to our lovely supporter from Beaconsfield who is hoping to run three (yes, three!) half marathons in 2018, all to raise sponsorship for the Fragile X Society ? good luck and thank you!
Thank you and congratulations to our lovely landlord and landlady of their pub who organised and hosted a Hairy henry event ? we will leave you all guessing what it entailed but it resulted in an amazing ÂŁ550 donation to the Fragile X Society ? so please pass on our thanks to everyone who took part and donated.
Did you know? We receive no Government funding and rely entirely on voluntary donations.
And finally, a plea to those of you who were lucky enough to secure a ballot place in next years Virgin Money London Marathon. Firstly, congratulations on securing your place and secondly, 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. News Fl ash! There is still time to apply for our 2018 Virgin Money London Marathon charity place. Please visit www.fragilex.org.uk/ londonmarathon and see the London Marathon Entry for further information on the minimum sponsorship required and how to apply.
www.Fragilex.org.uk
/ theFragilexsociety
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Meet the Team: Board of Directors Our charit y is l ed by a wonderf ul group of vol unt eers, who give t heir t ime t o govern t he charit y and pl an f or how we can best provide support t o t he UK Fragil e X Communit y. In Sept ember we wel comed new members t o t he t eam- now you can get t o know t hem! Firstly it is with enormous gratitude that I (on behalf of the Board) say farewell to Sally Hicks, Isabel Stirling, Nerina Dewar and Steve Harris, all of whom stepped down as Directors at our AGM in September. Each of them have been absolute stalwarts of the Charity for many years and without them we would not be where we are today. Thank you to each of you for your tremendous support to the Fragile X Society and to me personally for the contributions that you have made and for the support you have given. You will be sorely missed however I am also delighted to welcome Jennie Keene, Rachel Instone, Mark Smith and Rob Dell who have agreed to join the Board as new Directors and bring their experiences and fresh ideas to the table going forward. In addition, we welcome back Dorcas Slaney who has re-joined the Board and look forward to everyone contributing to the future planning and successes as a charity in 2018 and beyond. - Craig McDonal d, Chair
Rachel Inst one: Research Of f icer I live with my husband, Ayd, and three children in North Yorkshire. Our eldest boy is affected by Fragile X, but our girls are as yet untested. We became involved with the Fragile X Society in 2015 when our then 9 year old was given the diagnosis. I remember ringing the Fragile X Society after taking the call from the geneticist. I was so relieved to be able to speak to someone who understood and who was a fountain of knowledge and support. My background is in publishing, but I recently completed an MSc in Psychology and am currently working as a Research Assistant for the University of Oxford. I was keen to help the society when they asked for Directors and I have a particular interest in the Board?s research committee. Mark Smit h My wife found out she was a pre-mutation carrier for Fragile X Syndrome when she was 17. A few months later we met and it has always been a part of our lives. We started attending the Fragile X Society Conferences a few years before having children to get exposure to the syndrome. Since then we have had two children. Kaleb has the full mutation but has benefited from an early diagnosis and intervention. Alby is the result of Pre-implantation Genetic Diagnosis (PGD) and is therefore unaffected. Fragile X has also had an impact on my wife's health and her fathers (Fragile X related Ataxia).
www.Fragilex.org.uk
@Fragilexuk
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Meet the team: Board of Directors. Continued Throughout all of this the Fragile X Society has provided us with support and information that has made the challenging times easier. Much like the other Directors, I am keen to give something back to the Society. During my working hours I am a Service Delivery Manager at the University of Birmingham. This is a technical IT role that involves service creation and management for any University wide service such as printing and student clusters. In previous roles at the University I have specialised in bespoke solutions for the research community including data management and governance.
Board of Directors: September 2017
Jennif er Keene: Treasurer I am new to the board and excited to be involved. I work as a Finance Manager for a large engineering company and am happy to have the opportunity to use my professional skills to help such a worthy cause. I've recently taken over from the previous treasurer Isabel, and my main responsibilities are to reconcile the monthly accounts and run payroll. I have a family connection in that my mother's two brothers both have Fragile X, but she is not a carrier. Dorcas Sl aney My interest in the Fragile X Society comes from having 2 sons with the syndrome and also a brother, whose diagnosis only came after the boys? condition was confirmed. This is my second term as a director of the Fragile X Society and as a retired teacher advisor for special needs, this has been my main interest. However, now the boys are living locally with a lot of support, my interest has naturally extended to adults with learning difficulties and the opportunities available to them, which seem to vary greatly in different areas of the country. I have been running the Society?s fundraising 100+ Club and knowing how valuable the Society is for families, I am very keen for it to be able to continue its valuable support work. Robert Del l I became aware of Fragile X a few years ago when my son, Jacob (now 6), was diagnosed with full mutation Fragile X. The Fragile X Society became an invaluable source of support and information that helped the family not only learn about Fragile X, but also learn how to live with Fragile X. They made what was an incredibly difficult time much easier.
www.Fragilex.org.uk
Fragile X UK
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Board & Research Update The Society had a noticeable impact on my daughter Josie,10, who had to come to terms with a little brother that got much of the attention. She channeled this in a positive way, presenting to her school about the Society, and as a result her school picked it as Charity of the Year, raising over ÂŁ8000. When the Society approached me about the possibility of becoming a Director I was both honoured and delighted. I felt it was an opportunity to do something to repay the kindness and help the Society has given to me and my family, and to further raise awareness whenever I can. Professionally, I am a solicitor, having worked in London for 21 years, and hopefully I can use some of my experience and expertise to return some of the invaluable help the Fragile X Society have given to me. For introductions to the whole team, visit www.Fragilex.org.uk/ fxs-board. If you would like to find out more about joining the board or to contact the board members, please email info@Fragilex.org.uk
Research Update 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 is details of some ongoing research studies which are seeking participants. All studies have been reviewed and approved by a Specialist Advisor and family members via our Research Committee.
For f ul l det ail s of t hese st udies, and ot her research part icipat ion opport unit ies as t hey become avail abl e, visit : ht t p:/ / www.Fragil ex.org.uk/ research-t ake-part Decreasing Temper Out burst s Unexpected changes to routines, plans or expectations can be triggers for temper outbursts or difficult behaviours, for people with Fragile X. This study aims to equip parents or caregivers with tools to reduce the frequency or severity of these behaviours. Parents (children age 7-16 years) receive free online training over one month and are asked to complete an easy diary about their child's behaviour before, during and after. Find out more by contacting Dr Kate Woodcock (Tel: 028 9097 4886, k.woodcock@qub.ac.uk) or Dr Clare McGeady (Tel: 028 9097 4623, c.mcgeady@qub.ac.uk).
Underst anding Aut ism Prof il es in Fragil e X Syndrome This research will be using questionnaires eye tracking and electroencephalography (EEG) methods to investigate the perceptual and neural mechanisms underpinning autistic-like features in children (age 4-15 years) with FXS. To find out more, contact Jennifer Glennon, on 07477449766 or by email at jglenn01@mail.bbk.ac.uk.
www.Fragilex.org.uk
/ theFragilexsociety
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Research Update
Cognit ive Emot ional Dysregul at ion of FMR1 Premut at ion Carrier Mot hers of Chil dren wit h Fragil e X Syndrome Dr Nermin Khalil, Professor Jeremy Turk and colleagues (South London and Maudsley NHS trust). The aim of this study is to identify the patterns of coping used by premutation carrier mothers of children with Fragile X Syndrome compared to mothers of children with Down Syndrome. This study will also look at the possible association of these coping strategies with the presence of anxiety and/ or depressive symptoms. Your participation will contribute important information about the ways of coping that mothers of children with Fragile X Syndrome when they are exposed to stressful situations and the association of these strategies with anxiety and depressive symptoms. We will also look to the helpful coping strategies that can reduce the risk of developing mood and anxiety disorders. To find out more email: Nermin.Khalil2@slam.nhs.uk
Do you t h in k scr een in g t h e gen er al pu blic f or Fr agile X car r ier st at u s bef or e pr egn an cy is a good idea? Sh ou ld f am ilies livin g w it h Fr agile X h ave a say in w h et h er or n ot t h is is in t r odu ced? Felicity Boardman and Rachel Hale from Warwick Medical School are looking to interview people (age 18+) with a personal or family link to Fragile X Syndrome or FXTAS about their experiences and about their attitudes towards genetic screening. The anonymised results of this study will be submitted to policy advisory groups, such as the National Screening Committee, when they next review their policy recommendations for Fragile X Syndrome screening (expected 2018/ 19). Expenses are available to support travel. To find out more, contact: screeningstudy@warwick.ac.uk or call 02476151291
Fragil e X Imaging St udy Andrew McKechanie from the Patrick Wild Centre is looking for individuals with Fragile X Syndrome (age 12-70 years) to join a study to help better understand the structure and function of the brain in Fragile X. The study involves a brain scan (MRI) and includes the chance to practice in a mock scanner. The scans take place in Edinburgh; travel costs are reimbursed. To find out more, contact: 0131 5376685 or at andrew.mckechanie@ed.ac.uk
We extend our thanks to those who volunteer their time to take part in research. In addition, we thank those professionals and researchers who help to improve our understanding of Fragile X, and how best to provide support. Picture: Fragile X Research Workshop 2017
www.Fragilex.org.uk
/ theFragilexsociety
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 conference weekends, 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, eLearning 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 9-5pm, Wednesday 1-5pm and Thursday 9-5pm. - Tel ephone: 01371 875100, option one. Email : info@Fragilex.org.uk - For our Hel pl ine in Scot l and Typically available 9-5pm Monday- Thursday. - Tel ephone: 01371 875100, option two. Email : sandra@Fragilex.org.uk - For f undraising and chal l enge event inf ormat ion and support - Tel ephone: 01371 875100, option three. Email : fundraising@Fragilex.org.uk
One more t hing... With longer nights and shorter days, it?s easy to assume wintertime means a lack of fundraising activity, but it couldn?t be further from the truth. 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. Maybe there are a few local opportunities you and a few friends could create yourselves, such as a quiz night at your local pub or a charity night at your favourite local restaurant.If the management agrees and if you can fill their restaurant they often charge ÂŁ20 per head with ÂŁ10 of that going straight to the chosen charity although the final pricing depends very much on their menu costs. It is such an easy fundraising event to organise and great fun into the bargain. 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. Thank you so much.
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