Newsletter issue # 89 | August - October
Famil y St ory: Let t ing Go
New Resources
(Pages 4 - 5)
(Page 3)
Fragil eXpedit ion Awareness Day Campaign 2017 (Page 11)
New FXTAS & Carrier Cl inic in Liverpool (Page 6)
Photo credit, with thanks: Rutland and Stamford Mercury
www.fragilex.org.uk
01371 875100
2
issue # 89 | August - October
Welcome to the Autumn edition of our newsletter! We hope you enjoy all of the updates and stories as usual. In addition, along with the newsletter you will find a review of the past year of The Fragile X Society's work. We hope that you will enjoy finding out more about the work we do for all those living with Fragile X in the UK, and our plans for the future. We also have some updates from the team. We are very sad to say goodbye to Susan, our charity's first ever employee! We wish her all the best in her new adventures in Devon.
I want to say how much I have enjoyed working for the Society over the past 14 years. It has been the most rewarding and best work I have done during my working life. In addition, we are delighted to introduce you to Barbara, our new Head of Fundraising! Read more from her on page 10. There are also some changes to our helpline service for England, Wales and Northern Ireland. From the beginning of September Wendy and Jane will be available Tuesday and Thursday 9-5pm, and on Wednesdays 1-5pm. Becky and the Fragile X Society Team
Issue Cont ent s 3
What's New? Charity Updates
9
4-5
Family Story: Letting Go
Fragile X
6
FXTAS Clinic: Walton Centre, Liverpool 10
Fundraising Updates
7
Research Update
FragileXpedition: Join our 2017
8
Family Weekend
11
Family Story: Taking to the Skies for
Fragile X Awareness Campaign!
Al so incl uded wit h t his issue: -
Annual Review 2016-17: An overview of the past year at the charity AGM Agenda and Proxy Forms for AGM at Thomley Centre on 23rd September
www.fragilex.org.uk
/ thefragilexsociety
3
Charity Updates: What's new?
New Fragile X Resources Available We are always working to produce new resources to help inform about various aspects of Fragile X. Listed below are some examples of new items available. As always, contact the office (info@fragilex.org.uk; 01371875100) for these, as well as other, free resources. -
Easy Read Guide: I Have Fragile X Syndrome. Accessible information booklet Sleep Difficulties. Information Sheet School Transport in England. Information Sheet Education, Health and Care Plans. Information Sheet Guide to Female Premutation Carrier Symptoms. Booklet Looking for work. Information Sheet Top Ten Tips for Transition to Adult Services. Information Sheet Arriving soon! New Fragile X Syndrome Educational Videos (with thanks to Jeans for Genes)
Excerpt from our Easy Read Guide
Cerebra Legal Service ? The Legal Ent it l ement s and Probl em Sol ving (LEaP) Project I have written in previous newsletter about Cerebra?s legal service. It is aimed at children aged under 16 with a brain related condition so fragile X would fit. The service aims to give families the knowledge they need to access health, social care and other support services. It does not usually include educational provision. The service provides parent guides and template letters and is run by Professor Luke Clements. It was based at Cardiff University, but has moved to Bristol University with professor Clements. The service does also include free legal advice, which is given by students under supervision and is now called The Legal Entitlements and Problem Solving (LEaP) Project. The website is w3.cerebra.org.uk/ help-and-information/ legal-help/ You can also contact the service by email at probono@cerebra.org.uk or by calling 01267 242582. - Wendy Bowler, Family Support Worker for Children
www.fragilex.org.uk
@fragilexuk
4
Family Story: Letting Go Almost 24 years ago Hedley arrived on this planet and, as any new baby, rocked our World! We had no idea what Fragile X was or what implication it would have on us but in the following years it became clear that Hedley was certainly going to be a challenge and whilst we knew he had 'something' we didn't know until he was 5 years old that the 'something' was Fragile X. We faced the battles, we won the battles, each one bringing its new hurdles but however high we scaled them together as a family, we did everything in our lives because of Hedley. Harry, now 17, came along to join our family and it was if somehow he knew it was a case of going with the flow in this crazy World we lived in with Fragile X! Well the years passed and we had thought that when Hedley was 20 we would look at him going to live in a home with some other young men similar to him. However, 20 came and went, we just couldn't contemplate him not being with us. The next few years were pretty much the same, until about 18 months ago. I looked at Hedley one day and he was just mooching around the house whilst I cleaned, he came food shopping in the afternoon and then came home, put his headphones on to listen to
He needed us to make one of the most difficult decisions we have had to face in his lifetime and that was to 'let him go'.
www.fragilex.org.uk
yet another version of Sex Bomb by Tom Jones, put his PJ's on and his day was done: it wasn't right. I felt sad for him. He was also having a lot of behaviour around the morning routine which was causing Simon (Dad) a lot of stress and stressing Hedley and I think at a certain moment both Simon and I looked at him and thought we aren't being fair to Hedley. He needed something else. He needed us to make one of the most difficult decisions we have had to face in his lifetime and that was to 'let him go'. Of course we then faced battle after battle in getting what we wanted for Hedley, we are a formidable team and we dug our heals in and eventually earlier this year Hedley gained a place in a new home run by a company called Creative Care. The home is in a beautiful village, it is a spacious family home with a lovely garden and a three acre paddock at the bottom
@fragilexuk
5
Family Story: Letting Go Continued of the garden. We asked if we could decorate his room and we recreated Hedley's bedroom at home so it felt familiar. We started the transition by Hedley having weekends there, building from two nights to four which led to his move in date on June 2nd, Hedley?s new adventure had begun. Hedley settled straight away. Hedley can phone home at any time. Usually once we have answered he runs away and the carers tell us he is waving and blowing kisses, these calls however are getting less and less. I fought to keep three days at day services as he loves his time there and the friends he has made. On the other days he is out and about doing lots of things, horse riding, swimming, visiting events, all with his carers who he has really engaged with. He loves to do the house food shop and loves doing the cooking, he is
so involved and he is so fulfilled. He even goes to the pub for a drink and bag of crisps and it's rare he had pj's on before 8.30 9pm, he's living the life that, at approaching 24, he should be doing. And what about us? I won't lie, it's not easy. We are all missing him in our own ways. Harry found it tough by not being woken at silly o?clock with the cat Boo thrown on his bed by Hedley (I do think he's kind of getting used to it now!). Simon and I have felt lost. It's the strangest feeling I have ever felt, walking in his bedroom and just tidying his bed, jolting when I think I need to get home to get him off the taxi and then realising I don't. We have planned lots of things and have future holidays booked, something which we have not been able to do without knowing Hedley has someone to look after him. It really is a new found freedom, which is taking some getting used to, but we know that is is 100% the best thing for Hedley. Harry's flying in his World as an independent person and now Hedley is in his World doing the same thing, he really is having a new adventure and he's loving it.
He's living the life that, at approaching 24, he should be doing. If you are thinking about the future, or about housing options, remember that you can speak to us at the Fragile X Society. We also have lots of useful, free resources. Contact us at info@fragilex.org.uk or email info@fragilex.org.uk
www.fragilex.org.uk
01371 875100
6
Premutation & FXTAS Clinic Walton Centre, Liverpool
Dr Sundus Al usi MBChB, MD, FRCP I am a consultant neurologist at The Walton Centre Foundation Trust, with an interest in Movement Disorders and in particular Tremor, Deep Brain Stimulation and Huntington's disease. My interest in FXTAS (Fragile X-Associated Tremor and Ataxia Syndrome) has developed through looking after patients with rare tremors and movement disorders. Looking after a population of patients with the dominantly inherited Huntington's disease has increased my experience of dealing with the delicate and complex nature of inherited neurological disorders and the challenges they bring to people affected, their carers and their physicians. About t he Wal t on Cent re & Cl inic The Walton Centre is the only specialist hospital trust in the UK dedicated to providing comprehensive neurology, neurosurgery, spinal and pain management services. One of my clinics at the Walton Centre is dedicated to the diagnosis and management of movement disorders and associated difficulties and hence I am able to see people who have symptoms or suspect that they may have symptoms related to FXTAS and offer advice regarding management of their symptoms. Through links with a clinical geneticist I am able to refer patients and their relatives for genetic consultations too. Furt her Inf ormat ion and Ref erral s
Patients can be referred directly to me at the Walton Centre Foundation via their GP.
Please note: The FXTAS clinic at St Mary's in Manchester with Dr Trender-Gerhard is no longer seeing patients. However, we are very grateful for Dr Trender-Gerhard's continuing support from Germany as a Specialist Advisor to the charity. For more information on Fragile X premutation and FXTAS, please contact: info@fragilex.org.uk
www.fragilex.org.uk
Fragile X UK
7
Research Update One of our charity's aims is to support research into Fragile X, to improve understanding and support for all those 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.f ragil ex.org.uk/ research-t ake-part Do you t h in k scr een in g t h e gen er al pu blic f or f r 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 f r 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
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
8
23rd - 24th September 2017
Family Weekend Conference Thomley Centre, Buckinghamshire: 23-24th September 2017 What ? We are so excited for our up-coming event at the Thomley Centre, which is our first truly family-focussed conference weekend. It?s going to be a jam-packed weekend with activities, speakers and workshops. Our aim has been to introduce an interactive weekend with all the aspects of the traditional Fragile X Conference but now with a BIG family element- which we hope you will love! Speakers We are exited to be welcoming a range of speakers and exhibitors including: The Patrick Wild Centre team; Dr Hayley Crawford (University of Coventry) speaking about anxiety; The Autism Reality Experience discussing sensory issues and management; Dr Jane Waite discussing behaviours that challenge; and more! Where? The Thomley Centre is a centre for people of all abilities and caters for children, young people and adults alike. You can find out more at www.t homl ey.org When? This is a weekend event on Saturday 23rd (10-5pm) and Sunday 24th September (10am-3pm). We are also having an optional BBQ after the conference on the Saturday evening. For details about local accommodation contact us or visit the booking site below.
For more information and to book visit: http:/ / fragilexfamilyconference.familyevents.info We will also be hosting our AGM on the Saturday at the Thomley Centre. This is a great opportunity to learn about and celebrate our charity's achievements over the past year and look to our future plans. It is also the time where we vote in our new Directors, who volunteer to lead our Charity. Please see the enclosed AGM insert to find out more about the AGM.
www.fragilex.org.uk
@fragilexuk
9
Taking to the skies for Fragile X Last year Sandy St rat t a t ook a deep breat h and decided t o do somet hing she had al ways want ed t o do; a sponsored Skydive t o raise f unds f or t wo charit ies cl ose t o her heart
?My son Carl has Fragile X and once we had decided on doing a sponsored skydive, raising sponsorship for the Fragile X Society felt the right thing to do. My eldest son (not affected by Fragile X) also wanted to do a Skydive so the two of us decided to do this together. Our original jump date was 22nd July but after waiting around the airfield (nervously) for the weather to improve as the clouds were too low, the jump was eventually postponed. All of my adrenalin and nerves melted away but I knew that was only a temporary reprieve. Sure enough, a few days later the weather cleared and we were set to jump. Because we had already completed the training, we just had to wait around until our names were called. The moment I heard my name called out on the tannoy, it set all the emotions running again. What on earth was I doing, jumping out of a plane at the age of 64? I am usually such a coward when it comes to doing anything out of the ordinary. Mind you, there was a lady who looked much older that myself and I thought well, if she can do it then so can I!
www.fragilex.org.uk
We were kitted out in our jumpsuits and harnesses and given a brief reminder of our training. Then came the big moment and we were walking out to the waiting plane which seemed very surreal. Once on board, we got hooked up to our tandem instructors and as we climbed to 15,000 feet, I realised it was my turn to jump. It was at that point that Adam said ?love you Mum? ? and I wasn?t too sure what that meant. Was it a wish of good luck or a possible farewell? Then before I knew it, whilst attached to my instructor by the harness I was hanging over the edge of the open door area and then we were falling together at 125 miles an hour. I remember my ears were popping and I wished I could concentrate on trying to catch my breath rather than smiling for the cameraman! But once the free fall was over and the parachute opened, the view was spectacular and I started to really enjoy the ride. The landing was fine and Adam landed only a few seconds after me. The look of joy on his face was well worth it. The very best thing though, was being able to raise funds for my favourite two charities. Between us we raised nearly ÂŁ900 and that made everything worthwhile.
And would I do it again? Initially I thought not but if you asked me today, I might just say yes.
@fragilexuk
10
Fundraising updates We are so grateful for the kindness and dedication of our supporters. It never fails to warm our hearts and fill us with enthusiasm to hear the stories of those who take the time and effort to support us, in so many different ways. From those who make and sell their homemade jams to raise funds, through to those adrenalin junkies who raise sponsorship to sky dive, bungee and take on grueling extreme challenges. To hear their individual stories and the reasons they support us, is truly inspiring. We hope that you enjoy reading the annual report enclosed and learning about the work that our supporters have enabled. The benefit the Fragile X Society gains from this support is two-fold; the fundraising is vital and so much appreciated but also, the opportunity to raise awareness is something that is so important to all of us. Through your fundraising stories, we are managing to reach deeper into the community and promote our very existence, benefiting all those concerned with Fragile X who might not have realised we are here, what we do and how we can help guide, inform, educate and support. This alone, is invaluable.
New member of t he t eam! So this has led us to the vision of growing our fundraising opportunities and subsequently, our profile. With this in mind, we are proud and pleased to introduce Barbara Burnett who joins us as our new Head of Fundraising. Barbara has over 20 years?professional fundraising experience along with a personal understanding of Fragile X and brings with her, a wealth of experience, ideas and opportunity. We will be offering bespoke fundraising support, designed to help all of our supporters, new and current, to feel properly equipped to maximise their event and widen our range of open fundraising opportunities. This is an exciting time and I hope you join us in looking forward to exciting opportunities for the charity and our community.
Our 100+ club is a fundraising scheme with monthly cash prizes. Congratulations to the following winners -
Jul y 2017: Karen Salsac; Gillian Shaw; Josie and Tom Wallace; Catherine Wardroper August 2017: Lyn Morgan; Ann and Marcus Langford ; Paul Gray; Teresa Pilkington
If you'd like to join our 100+ club please visit: www.fragilex.org.uk/ 100-club-fxs
Interested in fundraising for us? Contact fundraising@fragilex.org.uk for your free pack!
www.fragilex.org.uk
01371 875100
11
# f ragil e
pedit ion
Hel p us raise vit al awareness of Fragil e X ? t he most common inherit ed cause of l earning disabil it y
Join our 2017 Awareness and Fundraising Campaign Fragile X is still too often overlooked or misunderstood as a diagnosis. We want to change this and we need your help. What is t he Fragil eXpedit ion? The FragileXpedition is a virtual challenge that everyone can get involved in, to help us collectively travel the 8,026 miles 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 in a fun, inclusive way that everyone can take part in. The FragileXpedition is our flagship event and is one of the most accessible events imaginable; if you can walk, run, swim, canoe, be wheelchair or buggy pushed, you can take part. You choose the method of travel, as long as it is under your own steam. This is a sponsored event for anyone, anywhere, in any way, to add to our ?virtual miles travelled? total. If you can?t raise sponsorship, that?s okay. Please still join us and register to add your miles to our total because every little helps. If you can only manage a half mile or if you are a regular swimmer or you are running a half marathon, your miles will all help our virtual miles total.
When is it ? This year?s event launched in August and will run until Fragile X Awareness Day on Tuesday 10th October 2017. All miles logged during this time will be added together to reach our target of 8,026 miles - the equivalent of the outline around the UK. Please help us beat last year's amazing total!
How t o t ake part Just visit the link below, sign up and you have started your journey. Once you have created your supporter page, you will be sent your FragileXpedition supporters pack. Follow our hints and tips on how to promote your support of the FragileXpedition to family, friends and colleagues. Let them know what you are doing to support us and most importantly, about Fragile X and why you have decided to take part.
Visit : www.everydayhero.co.uk/ event / f ragil eXpedit ion www.fragilex.org.uk
Fragile X UK
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 - For our Helpline in England, Wales and Northern Ireland Available Tuesday and Thursday 9-5pm, Wednesday 1-5pm. - Tel ephone: 01371 875100, option one. Email : info@fragilex.org.uk - For our Helpline in Scotland 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
Coming soon.... Our fundraising is getting a little adventurous so keep a close eye on our webpages and future newsletters as we prepare to launch our new fundraising challenge events. We are partnering with a specialist event agency to enable us to offer a wide range of sponsored events with something for everyone. From trekking the Three Peaks or cycling the London to Paris route, on to the more exotic overseas challenge of climbing Mount Kilimanjaro. For those not wishing to stray too far afield, we will also be looking for participants for our 5k Santa and Super Hero runs (and walks, there is no rush, as long as you dress for the part). Skydiving events will also play a big role in our fundraising calendar so even if you don?t really fancy the prospect of leaping out of a perfectly good aeroplane at 14,000 feet? you may well know someone that does, so please do share the news that we are going to be looking for fundraising volunteers willing and able to come on board and face the challenge of a lifetime.
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