Newsletter issue # 93 | August-November 2018
You l earn pat ience you never knew you had, a deep sense of l ove and t o appreciat e al l t he l it t l e moment s t hat might ot herwise pass you by. Chris and Tash's Story- page 6-7
Fragil e X Awareness Campaign (Page 5)
www.fragilex.org.uk
Paul a's St ory (Page 23)
01371 875100
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issue # 93 | August- November 2018
Welcome! CEO's Introduction Hel l o al l ! Welcome to the summer edition of the newsletter. I hope that you have been enjoying the sunshine (and not melting!). A couple of brief things for me to highlight in this issue: Annual Review Enclosed with this edition of the newsletter (or sent alongside it if you are receiving this by email) is a copy of our annual review of the year 2017-18. We are really proud to share this review with you to highlight all the amazing work that we have been able to achieve together this year. Please do make yourself a cup of tea and take 5 minutes to have a read through. It is always a great opportunity to be able to thank all those who have made this work possible: without our amazing staff team, volunteers, donors and supporters this would not have been possible. Thank you. Fragil eXpedit ion I am so excited to announce that we will soon be launching our annual FragileXpedition awareness-raising campaign for 2018. Full details are available on page 5. It is a great opportunity to take on a challenge or get friends and family involved in our mission to raise awareness of Fragile X all the way around the UK.
Thanks all for your time and I hope that you enjoy the issue! Becky Hardiman (CEO)
Issue Cont ent s 3
Paula's Story
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Chris and Tash's Story
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Charity Updates
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Be Our Voice Campaign
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FragileXpedition 2018
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Research Update
INSERT Fragile X Society Annual Review
www.fragilex.org.uk
/ theFragilexsociety
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Paula's Story: Life with Fragile X Syndrome My name is Paula and I am 27 years old. I was born in 1991. I have a sister who was born in 1994. At the time of our births my mum was not aware that she carried the fragile X gene. Living with the full mutation of fragile X syndrome can be challenging. When I was at school I received private tuition, this helped me greatly in terms of my learning development. I found that the use of visual and audio aids helped me learn quicker in my tuition. I am lucky in the respect that I have managed to have a good education. I have achieved the following: BTEC national diploma in health & social care, a BSc psychology from Staffordshire University and Masters in psychology from the University of Birmingham. I have had to work very hard to get to where I am today. My hobbies include: gardening, running (I run with my local club) and walking (I walk with my local walking group). I found my running club on Facebook and when I participated in my local village 1 mile walk in support of our fire station, I found out about the local walking group. I am now currently looking for a job , such as an Assistant Psychologist in the NHS. Due to the fragile X I struggle with mathematics. My maths has improved as I have got older because I use numbers more. However it is mental arithmetics I struggle with. I find that if I use numbers everyday this helps improve my memory. The fragile X also causes me to suffer from anxiety. My anxiety can make me feel tired , breathless and restless/ agitated. I used to find busy places challenging, however as I have got older I cope much better with situations. I find running and walking help my anxiety. When we exercise we release endorphins which in turn relieve pain and reduce stress. I find that I feel relaxed after exercise. Listening to music , reading and meditation all help reduce my anxiety. Thank you Paula for sharing your story. We are looking to feature more stories about adulthood and Fragile X: either from an adult's own perspective or from a person who is close to them. If you would like to write a piece or learn more, please contact: jane@fragilex.org.uk or 01371875100.
www.fragilex.org.uk
@Fragilexuk
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Charity Updates
Nat ional Fragil e X Foundat ion Conf erence in Cincinnat i: Jul y 2018 I was very fortunate to be able to attend the International Fragile X Conference in the USA recently, on behalf of the UK. It was a great opportunity to hear about some of the latest research on Fragile X from experts in the field. We have a number of newsletter articles lined up about these talks, which will be available over the next few issues. In the meantime, you can access slides and notes from a number of the talks at: www.t wit t er.com/ f ragil exuk/ moment s One of the most interesting talks for me was about Fragile X in Adulthood, by Professor Elizabeth Berry-Kravis. Slides from this talk are available via the link above (or by contacting the office). Although the talk highlighted the lack of research which has been completed with older adults, it was great to see recognition of the needs of this group. On a similar note, we will be sharing results from the UK Fragile X Adulthood survey in the next edition of the newsletter. All the best, Becky Hardiman (CEO)
Famil y Weekend Conf erence We are looking forward to welcoming many of you to our Family Weekend Conference at Thomley in Buckinghamshire on 29-30th September! For more information and the agenda, please visit www.f ragil ex.org.uk/ event s Booking for this event was announced to our members by email, and also via our social media channels. Make sure to provide us with your up-to-date contact information and follow us online for the latest updates!
Fragil e X Societ y AGM 2018 We will be hosting our AGM at our Family Weekend Conference on Saturday 29th September 2018. This is an important time of the year when we share updates about our charity's finances and activities through the year 2017-18. We will also be voting on our Directors. To see the agenda including the list of those standing for election, please visit www.fragilex.org.uk/ agm2018. In addition, proxy forms for voting will be available on the website.
www.fragilex.org.uk
@Fragilexuk
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# f ragil e
pedit ion
Join us on our mission t o raise awareness of Fragil e X al l t he way around t he UK! What is t he Fragil eXpedit ion? We want to mark Fragile X Awareness Day (10th October) and the weeks surrounding it by creating a nationwide buzz. We need to get people talking about Fragile X Syndrome in order to raise awareness and this is where you can really help make a difference. The FragileXpedition is our annual campaign: a virtual challenge to help us collectively travel 8,026 miles, the equivalent of the entire outline of the UK. It is a big challenge but it?s a great opportunity to raise both funds and awareness for the Fragile X Society in a fun, inclusive way that everyone can take part in. You can walk, run, swim, canoe... in fact, anything goes, as long as it's under your own steam! How does it work? Remember - this is your event; whatever distance you commit to cover by whatever method you choose. Whether it is taking on a new challenge or donating your walk to work, what matters is that you are sharing with others about why you are taking part and talking about Fragile X. We would love you to share your story and talk about your efforts online, face-to-face, or you could even contact your local newspaper. Once you have chosen your personal challenge, visit our virtual event platform www.everydayhero.com/ event s/ f ragil eXpedit ion to create your page and you are ready to go! We just ask you to enter the distance you have travelled (this can be done automatically via fitness apps or Fitbit or manually) and it is then added to our totaliser, towards our overall goal. When you open a page you are also able to raise funds for the Fragile X Society. It is not essential to raise sponsorship to take part, but every penny raised will benefit the Fragile X community: enabling us to conduct our work including supporting families across the UK, raising awareness, educating professionals and supporting research. When you sign up, we will send you your Supporters Pack full of helpful resources and information to help you in your journey to raise awareness, and donations if you choose. When is it ? We officially launch the event on Monday 20 th August and it will run until Wednesday 31 st October 2018. You can take part for as little or as long as you like within this time frame and every mile makes all the difference!
www.everydayhero.com/ event s/ f ragil eXpedit ion www.fragilex.org.uk
@Fragilexuk
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Chris and Tash's Story Family Fundraising Fundraising is something that we, as a charity, mustn?t be shy about. As we receive no Government funding, we have to rely totally on voluntary donations. But now and then, something very special happens and to our joy and amazement, we find we have the kind support of some truly inspiring people. In this issue I would like to introduce you to Chris and Tash, parents to two lovely boys; Harrison and Hudson. Here is their story about why they decided to come on board and raise funds for the Fragile X Society. - Barbara Burnett, Head of Fundraising We knew that there was something different about Harrison from an early age. We heard the usual encouraging words; ?he?s a boy, he?ll catch up,?but we pushed for a diagnosis anyway. When we received the diagnosis of Fragile X Syndrome (FXS) nearly three years ago, we initially did not know how to process or deal with the news. Despite being told it was the most common genetic form of learning disability neither of us had ever heard of it and what did this mean for Harrison and for us as a family? The information provided by the Fragile X Society provided us with answers to a lot of those initial questions, and knowing someone was at the end of a phone was a great comfort and support. As we learnt more from the charity and connected with other FXS families, the joy and happiness Harrison brought to everyone he came into contact with became more apparent. His laugh and smile is infectious, his relationship with his ?typical?little brother is beautiful to watch. They fight and argue like any brothers but the bond between them is a special one. We have tough days like any family and having a son with FXS brings with it many additional challenges. You learn patience you never knew you had, a deep sense of love and to appreciate all the little moments that might otherwise pass you by.
www.fragilex.org.uk
01371 875100
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Chris and Tash's page Continued While Harrison will always face additional challenges in his life the more people know and understand his condition the easier that journey will be. Two years ago I decided to give a little back to the Fragile X Society. The first challenge was cycling The 1,912 meters of Mont Ventoux and the second, this year was 300 miles in a large X across Devon. Both challenges pushed me to the edge physically (I still have numbness in my toes from cycling and am told the feeling may never return) but both were wonderfully successful in terms of raising much needed funds for the Fragile X Society and even more importantly awareness about FXS. People asking questions about FXS, reading about it, understanding more about it. I encourage everyone to get behind the Fragile X Society. Any fundraising however big or small goes a long way to helping them give support to families like ours.
We are so grateful to everyone who is able to fundraise for us; no matter how big or how small, your kindness and efforts are heart-warming and we appreciate and value every penny you are able to raise. Share your stories with us, on social media, your local newspaper; people love to read good positive news and you never know, you just might inspire someone else to come on board and join us, raising funds for the Fragile X Society. For further information and fundraising support and materials, please contact fundraising@fragilex.org.uk Thank you
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Keep up t o dat e wit h t he l at est about Fragil e X and t he charit y! Have you registered your email address with us? Less than half our members have. If you are happy to receive your newsletter by email then please let us know, as it will save us much-needed funds compared to sending hard copies. We can also keep you up-to-date more easily with the latest information.
www.fragilex.org.uk
Fragile X UK
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....And hel p us make a dif f erence where it real l y mat t ers Raising awareness and f undraising can of t en go hand-in-hand. Be Our Voice is our new campaign, designed t o increase underst anding and al so creat e new l ocal f undraising opport unit ies t hat we woul d ordinaril y not be aware of . As you know, we are a small charity with a national reach and without doubt, we depend heavily on the kindness of others, to raise funds and donate. Whether a company, an individual, or a local Scout group ? we appreciate and value every effort made and every penny donated. Yet every donation, regardless of who it is from, has one big thing in common; they know of Fragile X Syndrome. They appreciate the work of our charity and they want to support us. Just think of the impact on us as a charity and the subsequent effect on the scale of our work, if there was stronger awareness and understanding. If only we could convey that information to other local potential supporters? and just think of how many fundraising opportunities we could benefit from. And we can, if you could help us and Be Our Voice. We understand that many people would love to help us raise funds if they could, but life just gets in the way. Mobility, geography and sometimes just personal circumstances and day to day life make it near impossible to get out and about or even think about looking for local opportunities that could help us. But all we ask is please just keep us in mind. Perhaps your child?s school is asking for nominations for their charity of the year or your employer may be looking to support a new charity. You may read in the local paper that your town?s Rotary Club or Masonic Lodge is seeking a new charity to support. It could be your local county show, steam fair or shopping mall Christmas Grotto. Whatever it is, we need you to either contact them and suggest us for next year or if you?d prefer, just let us know and we can make contact. Either way, you could be the start of an amazing opportunity we wouldn?t otherwise have heard of ? and we would be so grateful. There are so many missed opportunities for local fundraising support across the UK but through you, our wonderful membership and supporters, we can have an advantage; an ear to the ground. So if you can, please Be Our Voice. Ask others to help if you can. For more information on how you can help us, please contact fundraising@fragilex.org.uk or ring 01371 875100.
www.fragilex.org.uk
@Fragilexuk
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Opportunities to participate in research There are some new projects to be involved in. We also have ongoing projects that still need participants. You will find further details on our website. Just go to ht t p:/ / www.f ragil ex.org.uk/ research-t ake-part Invest igat ing sensory modul at ion and ot her behaviours in girl s wit h Fragil e X Syndrome Michelle Marlborough and Professor Chris Oliver, Centre for Neurodevelopmental Disorders, the University of Birmingham. Michelle would like to invite families of girl s with a diagnosis of fragile X syndrome (either the full mutation or premutation) under the age of 16 to participate in her study. Parents will be asked to complete an online survey asking questions about the behaviours of their daughters, which will take around 45 minutes to complete. There is also the opportunity for an optional follow up phone call with Michelle to answer some more questions about your daughter?s behaviours, which would take about an hour. If you decide you would like to complete this questionnaire. Please type the website address below into your internet browser. This will take you to a webpage where you can find out more information about this questionnaire and chose whether or not you would like to take part. ht t ps:/ / t inyurl .com/ y7wvek5a
The password is: cerebra
If you have any queries about this questionnaire, or any difficulties accessing the survey, please contact Michelle Marlborough by email (M.Marlborough@bham.ac.uk) or by phone (0121 414 7206). If you would prefer to fill out the questionnaires in a paper copy, please contact Michelle and she can post the questionnaires to you.
Fragil e X Screening Survey Dr Felicity Boardman and Dr Rachel Hale, Warwick Medical School. This survey is designed to explore the views of people living with fragile X syndrome and its associated conditions on the possibility of having a fragile X screening programme introduced in the UK. Population screening means offering genetic testing for the full or premutation fragile X gene to the general public as opposed to only those with a history of fragile X in their family. Currently there is no national screening programme in place for fragile X syndrome, but the results of this survey would be made available to the UK National Screening Committee which advises the government on issues relating to screening. If you decide you would like to take part in this survey from Warwick Medical School, please contact Felicity: Felicity.Boardman@warwick.ac.uk or Rachel: R.Hale.1@warwick.ac.uk. There is also the option to complete the survey online (click here) or to complete it over the phone with the assistance of
www.fragilex.org.uk
Fragile X UK
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Research Update
Continued
either Felicity or Rachel. The Fragile X Society is very aware that the topics raised in this survey may be distressing. The survey is asking you to think about difficult issues relating to your family members and loved ones. However, we also feel that it is important that our Society members have the opportunity to contribute their views as very little is known about what families living with fragile X syndrome and its associated conditions think about screening. If you do need to speak to someone about this survey and the issues it has raised for you, please contact the Fragile X Society and speak to Wendy Bowler or Jane Oliver on 01371 875100 or Sandra Thoms on 07825 050072.
Transit ion t o adul t social care f rom resident ial educat ional set t ings f or young peopl e wit h int el l ect ual / devel opment al disabil it ies Nicola Elson and Prof. Peter McGill, The Tizard Centre, University of Kent. This project is designed to explore the transition process of young people with an intellectual disability into an adult support setting from a residential school or college. Nicola is interested in identifying factors that contribute to whether an individual is placed in or out of the area where their family is from. Nicola would like to invite young people with an intellectual disability (able to give consent) who have transitioned within the last 2 years and family carers of young people with an intellectual disability who have transitioned within the last 2 years to take part. Taking part would mean being interviewed for between 30-60 minutes and can be completed either face to face or over telephone at a time and location that suits you. The interview will cover topics like the complexity of the young person?s needs (e.g. whether they have health conditions or not, whether they have sensory needs or challenging behaviours), the preferences of the young people and their families, the availability of services and placement outcomes. If you would like more information about the study or to take part, please contact Nicola: Tel: 01227 823955 or email n.j.elson@kent.ac.uk
www.fragilex.org.uk
/ theFragilexsociety
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Research Update
Continued
Invest igat ing inf ormat ion processing in adul t s wit h and wit hout t he f ragil e X premut at ion Ishita Chowdhury, Dr Sarah White (University College London) and Dr Jo Moss (University of Birmingham). Ishita would like to invite mothers, under the age of 50, with the fragile X premutation to take part in a face-to-face study. The activities that you would be invited to do, include completing questionnaires, watching short videos, computer tasks and some paper and pencil tasks. The study sessions will take place at the Institute of Cognitive Neuroscience at University College London and will take about 2 hours to complete. Reasonable travel costs will be reimbursed as will your time and effort. If travelling to London is difficult for you, please contact Ishita as she may be able to arrange to visit you in your home. The main aims of the study are to find out how people?s brains process information and whether this relates to certain traits associated with the autism spectrum. If you are a mother under the age of 50 with the fragile X premutation and would like to participate in this study or you would like further information, please email Ishita or telephone her on 020 7679 1128.
www.fragilex.org.uk
@Fragilexuk
The Fragil e X Societ y ? here t o hel p support you wit h inf ormat ion, guidance and advice
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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... As you know, 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 (see our new campaign, ?Be Our Voice?page 8). Please keep look out for local community events and either make direct contact yourself or simply contact us and let us know the details and we will make contact. We would be so grateful and you could be the start of a great fundraising opportunity for us. If you would like any further information on fundraising, volunteering or the different ways you could help support us, please either phone 01371 875100 (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