Newsletter issue # 85 | August - November 2016
# f ragil eXpedit ion Join us on an epic journey this European Fragile X Awareness Day! We need you to take action and help us raise awareness about Fragile X Syndrome all around the UK - 8026 miles in total! Learn more on pg 3.
Al so in t his edit ion: - pg 2 - A Note From Us... - pg 4 - Family Stories - pg 5 - Research Opportunities - pg 6 - What's New In Research?
www.fragilex.org.uk
2
issue # 85 | August - November
A note from us
There?s a lot going on at the Fragile X Society! Firstly, you will find the booking forms for this year?s conference enclosed. Please note the change of venue from the Holiday Inn to Conference Aston at Aston University. This change has been made due to circumstances outside of our control, but we look forward to welcoming you to a new venue this year for an exciting event!
services, but developing and growing them for the benefit of the estimated 175,000 people in the UK who have Fragile X syndrome or who are carriers. We do not receive any support from the government or local authorities and rely on the generosity of individuals donating and fundraising for us, as well as asking for grants from Trusts and Foundations, and support from other sources.
Secondly, we are so excited to launch our initiative for European Fragile X Awareness Day (10th October): # fragileXpedition. We need the help of our whole community to get out and raise awareness of Fragile X all the way around the UK (a clue for you!). So, please, turn to page 3 to learn more about our plans and how you can easily join in wherever you are to raise awareness!
Unfortunately, however, the funding climate for small charities like ours is becoming ever tougher.This means that we need people?s support more than ever. Therefore, we want to take this opportunity to highlight our current financial position and ask, if you are able, to consider supporting us. Truly every donation or fundraising activity, large or small, adds up to make a real difference.
Also, as you can see, we are doing things a bit differently this edition. Along with this shorter edition of the newsletter we have another document for you to enjoy. Every year, we produce an annual report that summarises the work that we have done during the year, though this information has often been buried amongst the formal reporting. However, we are really proud of the work that we do and we want to showcase it to you all! So, this year we are sending out a short version of our annual report for you all to see! For all of our supporters who donate their funds or time to us, we want to celebrate all that you have helped us to achieve. We could not do this without your support. Importantly, you will also see in the financial section of the report that it has been a challenging year for us. Specifically, we had a deficit of over ÂŁ60,000 through the year, despite reducing our expenditure. We are passionate about not only maintaining our
We have a new, easy donation system on our website at www.f ragil ex.org.uk/ donat e where you can make a one-off or regular donation, and find details on other ways to donate or support us. There are lots of other ways that people, from our community and beyond, can support us too including: company charity of the year, school sponsored events, charity dinners, coffee mornings... and more! We have welcomed Sophie (sophie@f ragil ex.org.uk, 01371 875100) to our team who is working on our fundraising from various sources, including creating our new fundraising pack which is full of ideas and tips for ways to support us. Please contact her for your copy, and for fundraising resources and ideas! Together we can work to make a real difference for all those living with fragile X in the UK. All the best,
(Chairman)
www.fragilex.org.uk
(CEO)
3
issue # 85 | August - November
European Fragile X Awareness Day, 2016 Join us on an epic journey!
# f ragil e
pedit ion
Raising f ragil e X awareness al l around t he UK.
10t h Oct ober 2016 This Fragile X Syndrome awareness day we need your help to make it one to remember! The fragile X community know better than most the importance of raising awareness of Fragile X Syndrome in society. As a condition commonly misunderstood and misdiagnosed, it is our responsibility to educate those who have little understanding. Doing so can have an immensely positive impact on the care and support individuals and families with fragile X receive. To highlight this important issue, we are calling on the strength and determination of our dedicated fragile X community. Over the coming weeks, we ask you to come together, and collectively walk, swim, run, hop, skip, cycle, dance, jump - whatever takes your fancy! - 8026 miles; the distance around the UK coastline! Every mile contributed towards this virtual total, is another step closer to raising awareness of Fragile X Syndrome throughout the whole of the UK. If every person in our membership can work towards contributing just 5 miles between now and 10th October, we will have already met our goal! To get you st art ed, pl ease cont act sophie@f ragil ex.org.uk f or your f ree # f ragil eXpedit ion awareness pack, f ul l of ideas and awareness merchandise f or you t o use on your journey! For more inf ormat ion and t o regist er your int erest visit : ht t p:/ / www.everydayhero.co.uk/ event / f ragil expedit ion
www.fragilex.org.uk
4
issue # 85 | August - November
Family Stories We l ove t o hear f rom you - pl ease get in t ouch! "Kaleb doing his 25m run at a Special Olympics West Midlands event last weekend. Proud parents just out of shot!" Mark Smit h
?I have been selling your fab # fragileXtraordinary wristbands at work today. I have wonderful friends and family, and have managed to sell 45 so far! This is something extremely close to my family's heart. Each one sold will hopefully raise a little bit more awareness" Emma Jennings
?Seb goes to a club one Saturday a month and during the school holidays. He absolutely loves it - his friends are so important to him!" Al ison Evans
Throughout July we were blessed with some gorgeous weather! Thank you to those of you who sent in your pictures enjoying the sunshine: Emily, Catherine, Harry, Zackary, and Louise.
Find us on Facebook by visit ing: www.f acebook.com/ t hef ragil exsociet y www.fragilex.org.uk
5
issue # 85 | August - November
Opportunities to participate in research August 2016
Memory Training and Fragil e X Researchers: Dr Sonya Campbel l , Pat rick Wil d Cent re, Edinburgh Universit y This is a pilot study investigating whether a computer program (which is called Cogmed) might be useful for people with fragile X syndrome. The aim is to find out if 1. 2.
It is practical for individuals with fragile X to use Cogmed. If using Cogmed might lead to improvement in working memory and attention.
The study is recruiting adults with fragile X syndrome aged 18 and above. The study involves completing training on a home computer or tablet for 5-10 minutes, 5 times a week for 5 weeks. During that time you will have three home visits involving some clinical assessments and questionnaires, the first visit would last about 2 ½ hours the subsequent two would be about 1 ½ hours. No travel is involved for those taking part. If you would like to take part or just want further information please contact Dr Sonya Campbell at sonyacampbell@ed.ac.uk or by telephone on 0131 537 6680
Fragil e X Imaging St udy Researcher: Andrew McKechanie of t he Pat rick Wil d Cent re, Edinburgh Universit y. This aims to study the structure and functioning of the brain in Fragile X individuals of both sexes between the ages of 12 and 70. The study involves having a brain scan (MRI). There would be chances to practice in a mock scanner first. This is an important study, the results of which, will increase the knowledge of the structure and functioning of the brain in Fragile X individuals. The scans take place in Edinburgh, travel costs will be reimbursed. Families on the research database in northern UK will have had a mailing about this study, those in southern UK will be receiving a mailing shortly.
www.fragilex.org.uk
If anyone who has not had a mailing would like to find out more please contact Dr Andrew McKechanie on 0131 5376685 or at andrew.mckechanie@ed.ac.uk
Decreasing t he Incidence of Temper Out burst s t rigged by change in boys and girl s aged 7 t o 16. Researchers: Dr Kate Woodcock, Lecturer in Atypical Development at the School of Psychology, Queens University Belfast and a member of her research team, Clare McGeady. The aim of this research is to evaluate web-based training Dr Woodcock has developed to see how effective they are at helping parents to implement strategies in their own homes, which lead to their children having fewer temper outbursts following changes to their routines. The researchers are looking for boys and girls aged 7-16 years, who have temper outbursts to take part. The study involves keeping a simple diary of their child?s outbursts over 6 ? 12 months. It does not involve any travel for the families. The results of this exciting study could be very useful in helping parents deal with temper outbursts. The researchers know that everyone has different ways of thinking about and describing behaviours. The training being evaluated in this research is aiming to help with difficult behaviours that follow changes. If the child you care for finds changes difficult and shows behaviours that can be problematic following changes, then it may be appropriate for you to take part in the study. If you are interested in taking part but unsure about whether the child you care for fits in with the requirements for the study, please do get in touch with the research team, and they will discuss this with you. Those families who are on the ?research ticked?database will have received a mailing with details of this study. If there are other families who would like more information about this study please contact Clare McGeady on 028 9097 4623 or email c.mcgeady@qub.ac.uk or Kate Woodcock on 028 9097 4886 or at k.woodcock@qub.ac.uk
6
issue # 85 | August - November
What's new in research? August 2016
We are passionate about making sure that the findings from the latest fragile X research are communicated with our community to help keep you informed. This is why we have been working closely with researchers to summarise the findings of their work in an accessible and practical way. These summaries, and more, are available on our website, which is updated regularly, here: www.f ragil ex.org.uk/ research. Alternatively, you can contact the office on 01371 875100, who will happily post reports to you. Int ervent ion t o hel p improve chil dren?s spoken l anguage. (Dr Andrea McDuffie (Senior Speech Language Pathologist) and colleagues, UC Davis)
What Heal t h and Reproduct ive Feat ures are Rel at ed t o Being a Femal e Fragil e X Carrier? (Anne Wheeler and colleagues)
The way in which parents and children interact is essential for language learning and making the most out of these interactions can help boost the language learning. In this study, mothers were taught to interact with their sons in a way known to support language learning via interaction with a speech and language therapist via telehealth (i.e. remotely using technology such as Skype). In this pilot, there were 3 main techniques that the mothers were taught:
For a long time, it has been known that fragile X syndrome could be passed to future generations from people with smaller variants (premutation) of the fragile X gene (FMR1), sometimes referred to as carriers. However, until quite recently, it was thought that there were no direct effects for carriers of the fragile X premutation.
Recast ing: this is a technique where the mother repeats back to the child a more advanced or a corrected version of what the child has just said,in a way that flows with the conversation. E.g. if the child says ?climb wall? the mother could say ?oh yes, look the boy is climbing over the wall?. Use of wh-quest ions (such as ?who?, ?where?, ?when?) to prompt the child to answer specific questions about the content of a story. This helps to focus the child?s attention on important details of the story to help them to be able to understand and re-tell the story. Fil l in t he bl ank prompt s (e.g., ?he?s climbing up the _______?) to provide a sentence frame that helps a child to use a vocabulary word that he knows but may not be able to use independently. The trial showed promising results including longer interactions and increases in the child?s use of language. Overall, results of this pilot study suggest that a parent-implemented intervention based on shared story telling can be an effective way to support the spoken language skills of school aged boys with FXS
For more inf ormat ion visit : www.f ragil ex.org.uk/ research
www.fragilex.org.uk
We are now becoming aware that both men and women with a premutation may experience features related to smaller changes in the FMR1 gene. In this summary, the current evidence is evaluated to help understand which reproductive, mental and physical health features may be more common in girls and women who are carriers.
7
issue # 85 | August - November
Fundraising 100+ Cl ub The 100+ club is a fundraising scheme with monthly cash prizes.
you too to all the fantastic staff and students at Downsend - the money raised will help us enormously to continue providing advice and support services to those impacted by Fragile X Syndrome.
New Fundraising Packs...
The annual subscript ion of £20 brings valuable support to the work of the Society and gives you a chance to win one of the following cash prizes in the monthly draw: -
11 mont hl y prizes of : 4 December prizes of : 1
We are thrilled to announce the launch of our new fundraising packs - full of ideas to inspire you, friends, and family! To request your free pack please contact Sophie via sophie@fragilex.org.uk or call us on 01371 875100.
x £20 x £100, 2 x £50
Congratulations to the following winners: May June -
Helen Calder Jeanette Brudenell Tony and Jenny Smith Karen Patterson Mr and Mrs Evans Mr and Mrs Jones Christine Brough Sue le Rougetel
July -
Gary McIntyre Lady Elizabeth Edward Joyce and Roger Chapman Jennifer Jaques
We?d like to take this opportunity to thank every single one of you for your continued support, which enables us to sustain all the services we provide.
Thank you t o Downsend School In our recent newsletters we have been giving regular updates on Downsend School's fundraising efforts for the Society. As the school year Becky col l ect ing our cheque! came to an end, Becky (our CEO) was thrilled to visit the school, collecting a cheque for the total amount raised - over £7500! The Society would like to say a special thank you to student Josie Dell, and the rest of her family, who was responsible for our Charity of the Year nomination. Thank
You have hel ped us t o f und... We're extremely excited to launch our new easy read publication, 'I Have Fragile X Syndrome'. Our support workers have been working hard to ensure the content of this publication is accessible to individuals and families with Fragile X Syndrome - the first of its kind detailing the condition in easy read format. Money raised through family fundraising enabled us to commission Change (an inclusive organisation employing learning disabled individuals) to create bespoke easy-read pictures for the publication. To request a copy please contact the office on info@fragilex.org.uk or 01371 875100. They are also available to view and download on our website here: www.fragilex.org.uk/ booklets
In memoriam donat ions We are touched and grateful for the donations which we have received in memory of loved ones who have passed away:
If you're thinking about fundraising, and would like to discuss your www.fragilex.org.uk ideas, please contact Sophie: sophie@f ragil ex.org.uk
-
Mr. P. Stanfield.
We are here to support you, please get in touch We hel p anyone who is af f ect ed by Fragil e X; t heir f amil ies and f riends; prof essional s working wit h peopl e wit h Fragil e X; or anyone who want s t o know more. - Our Helpline is open 9am ? 5pm Monday, Tuesday, Thursday and Friday, and 1pm - 5pm on Wednesday, providing understanding, information and support. - Up-to-date resources, literature and publications about Fragile X - Peer to peer support online and via events - Conferences, training and events - Support for and opportunities to take part in research into Fragile X Syndrome and Fragile X Carrier effects.
Fragil e X Societ y St af f Becky Hardiman, CEO becky@f ragil ex.org.uk Contact Becky for enquiries relating to the development or management of the Fragile X Society.
Wendy Bowl er, Support Worker wendy@f ragil ex.org.uk Contact Wendy for enquiries about children and adolescents with Fragile X Syndrome; support groups; enquiries about carriers.
Susan Layt on, Cl erical Assist ant susan@f ragil ex.org.uk Contact Susan for membership queries, fundraising support, event booking and purchase enquiries.
Tim Pot t er, Bookkeeper t im@f ragil ex.org.uk Contact Tim with invoicing or day-to-day financial enquiries.
Jane Ol iver, Support Worker jane@f ragil ex.org.uk Contact Jane for enquiries about adults with Fragile X Syndrome and enquiries about carriers.
Sophie Kashi, Fundraising and Communicat ions Of f icer sophie@f ragil ex.org.uk Contact Sophie for enquiries about fundraising, our newsletter, publications, website, and social media platforms.
Sandra Thoms, Support and Devel opment Worker f or Scot l and sandra@f ragil ex.org.uk Contact Sandra for all enquiries about individuals and training in Scotland
Tel ephone: 01371875100 Address: Fragile X Society, Rood End House, 6 Stortford Road, Great Dunmow, Essex, CM6 1DA Email : info@fragilex.org.uk
/ thefragilexsociety or / fragilexukgroup
@fragilexuk
Fragile X UK
fragilexuk
Charit y Regist rat ion Number: 1127861
www.fragilex.org.uk
Company Regist rat ion Number: 6724061
ISSN 1745 - 1469