Newsletter issue # 84 | May- August
FXTAS: Who, What , When & How (Pages 6-8)
New FXTAS cl inic (Page 9)
Pedal Power Famil y Fundraising! (Page 11)
www.fragilex.org.uk
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issue # 84 | May - August
A note from our Chairman I cannot believe that we are already into May and heading even quicker towards the summer season. It seems like no time since I introduced myself as your Chair in December last year. The Society continues to provide hands on and very valuable support to families and individuals impacted by Fragile X Syndrome. We can often forget that our core service offering is all about the support that Becky and the team deliver on a day to day basis, and I thank them for their continued passion and expertise in dealing with a wide range of enquiries and information requests. In addition to providing the current support service, we also have a need to focus more on our overall financial position. I am delighted to confirm that Sophie Kashi (based in our head office) has now switched into a full time role to provide some real input on our income generation activity and to develop some clear and tangible plans going forward. At present, we are funded through various sources (such as grant/ trust donors, family fundraising, and one off donations) all of which we are forever grateful. In reality, however, we do also need to build on all of these current successes and activity, with a view to generating new funds in the future. I am sure you will welcome Sophie to her additional role and we look forward to hearing about some new ideas and initiatives to raise money! Our conference season is about to start with our annual Scottish event taking place on Saturday 21st May at Stirling Conference Centre. Through the day we will be focussing on some of the key practical issues facing children and adults with Fragile X, including education and employment. The day will include a mix of family stories, overviews of Fragile X and speakers talking about accessing services. As well as being a day full of useful information, it is also a great opportunity to meet with others living with or interested in Fragile X. I hope to see some of you there! In addition, we will also have our annual Birmingham conference: so do please save the date for Saturday 24th September.
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Craig's sons, St uart and Mat t hew, at t he Spinat hon! On a personal note, you will see a short article later in this newsletter about the ??McDonald family??taking part in local Spinathon event in our home town of Peebles, partly to raise awareness of Fragile X in our own community, as well as raise much needed funds for the charity. We have also been working closely with Dr Sue Fletcher-Watson at the Patrick Wild Centre on a ?Family in Residence? project over the last few months. You might have seen some of this if you are on Twitter and/ or Facebook. Sue assures us that she has had some fantastic input from Stuart and Matthew (?!) and also Gillian and me, so we are really looking forward to seeing the outputs from this. I will provide an update in the next newsletter as the project nears its completion. Finally, you may have seen some press commentary about the recent launch of the IFXA (International Fragile X Alliance). Members of the Alliance will share experiences, knowledge and content with one another in service to the worldwide Fragile X community. The Alliance launched with 28 Fragile X parent support organizations from 24 countries on five continents, which included The Fragile X Society. This is a huge achievement and a massive thank you from me to all those involved in making it happen. As always, thank you for your continued support of the Fragile X Society. If anyone has any comments or feedback, then please do get in contact with me directly at c_mcdonal d3@icl oud.com. It would be great to get your thoughts on how the charity is run and any ideas to further improve and build on our current successes. Thank you!
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issue # 84 | May - August
Family Stories Once again, so many of you have been in t ouch sharing your f ant ast ic phot os and st ories! It real l y does bright en up our day in t he Fragil e X Societ y of f ice, so keep t hem coming in! "I have just returned from a 10 day trip to Scotland. I have to say that Toby (17) did extremely well while we were away. We did lots of driving, went on boat trips, walking, shopping and just chilling. I am so proud of how he has coped with the holiday, new places, new people, anda new change of routine. He still amazes me every day!" Gwen St rachan
?My beautiful boy turned 4 recently and has not had any spoken words since he was 14 months old ? still at that point he had never said ?mummy?. Tonight, for the first time, he repeated ?mummy?twice and pointed to me and smiled. After waiting all these years I could cry with joy!? Shel l ey Cl arke
?Happy Birthday to our gorgeous little man ? so thrilled he didn?t get distressed at the ?happy birthday? song, and managed to blow out his candles on his birthday cake for this first time!? Andrea Del l
"This is James. He is FXFM, has an awesome, happy, caring personality & is incredibly helpful & very social. He struggles with not being able to sequence numbers or letters, and has delayed speech. But... last year he spoke in dialogue for 10 minutes! His speech continues to develop. Recently, he swam 100mtrs with float aid?s, and has ridden independently with stabilisers!" Just in Scot t
Find us on Facebook by visit ing: www.f acebook.com/ t hef ragil exsociet y www.fragilex.org.uk
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issue # 84 | May - August
Opportunities to participate in research February 2016
Research Survey: Adul t hood and Fragil e X Researchers: Jennif er Howard, Pet er McGil l , Becky Hardiman, Tizard Cent re, Universit y of Kent . The aim of this study is to learn more about the daily lives of adults (age 18 and over) with Fragile X Syndrome in the UK including their needs, the support they receive and the kinds of lives they are living. There is very little information on adulthood in fragile X, therefore we hope that the data collected will help us to better understand and provide support for adults. Please contact the Fragile X Society (info@fragilex.org.uk / 01371 875100) for hard copies of the questionnaire or visit: http:/ / www.fragilex.org.uk/ takepart to complete online. There is also an easy read version of the survey available.
Behavioural and Emot ional Trait s of Mot hers Caring f or a Chil d wit h Fragil e X Syndrome Researchers: Dr. Jo. Moss (Cerebra Cent re f or Neurodevel opment al Disorders, Universit y of Birmingham) in col l aborat ion wit h Dr. Sarah Whit e (Universit y Col l ege London), run by Denise Gerber (MSc st udent ) The researchers are looking for mothers, under 50 years old, of children with Fragile X Syndrome to complete an online survey. The survey takes approximately 40 minutes to complete and involves six questionnaires. There are two main goals for this research; to better understand the behavioural and emotional profile of mothers of children with Fragile X Syndrome compared to mothers of children with autism and typically developing children and to see how these traits interact with their well-being and their experiences of caring for a child (or children) with fragile X. Those families who are on the 'research ticked' database
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will have received an e-mail with details of this study. If you are interested in learning more about this research, please contact Dr Jo Moss on 02076 791148 or at j.f.moss@bham.ac.uk.
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 individual?s with fragile X to use Cogmed. If using Cogmed might lead to improvement in working memory and attention.
The study is recruiting children and adults with fragile X syndrome aged 4 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
The experience of chil dren and young peopl e (aged 6-15 years) wit h a l earning disabil it y undergoing non-urgent cl inical procedures This study is being carried out in the North West of England by Greg Cigan, Learning Disability Nurse and Graduate Teaching Assistant at the Faculty of Health & Social Care, Edge Hill University, Ormskirk.
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Opportunities to participate in research February 2016 The aim of the study is to find out the responses of children and young people with a learning disability, to non-urgent clinical procedures such as being examined by a doctor or having their blood pressure taken. Participating in this study will involve you and/ or your child/ children meeting Greg on one or two occasions at a place of your choice, which could be at your home if that is convenient for you. Although this study is not specific to fragile X it should come up with useful information on how children and young people with a Learning Disability cope with hospital visits and procedures e.g. blood tests, eye tests, hearing tests etc., and the results could be used to inform the medical profession. For more information about the study and to take part please contact Greg Cigan at cigang@edgehill.ac.uk or by phone call or text message on either Greg's work mobile phone: 07932477830 or office landline: 01695 654313.
Fragil e X Imaging St udy Researcher: Andrew McKechanie of t he Pat rick Wil d Cent re, Edinburgh Universit y This study aims to study the structure and functioning of the brain in Fragile X individuals of both sexes between the ages of 16 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. 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
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Decreasing t he Incidence of Temper Out burst s t riggered by change in boys and girl s aged 7 t o 16 Researchers: Dr Kat e Woodcock, Lect urer in At ypical Devel opment at t he School of Psychol ogy, Queens Universit y Bel f ast and a member of her research t eam, Cl are 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 would be interested in taking part but are 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 on the 'research ticked' database will have received a mailing with details of this study. If there are any other families who 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
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Fragile X Associated Tremor and Ataxia Syndrome: Who, What, When, How? Jane Ol iver, Fragil e X Societ y Support Worker, summarises a recent video l ect ure by Deborah Hal l (Adul t Neurol ogist & Movement Disorder Special ist , Rush Universit y, Chicago) features to Parkinson?s, and is often misdiagnosed as Parkinson?s. However, one of the differences between FXTAS and Parkinson?s is that the tremor seen in Parkinson?s is usually at rest. In contrast, in FXTAS the tremor is noticeable when someone is active, for example, when trying to pick up a cup.
This article gives an overview about what is currently known about (Fragile X Associated Tremor and Ataxia Syndrome) FXTAS, broadly. It is important to note, however, that the severity of its symptoms is different for each individual. -
Memory and cognit ion. Cognitive changes may include decline in the ability to think, remember and organize. Research shows that approximately 40% of men with FXTAS develop dementia, meaning that their ability to process information slows down more severely and that they may have difficulty controlling their behaviour. Research suggests that the likelihood of experiencing this cognitive decline increases in individuals with an increased number of CGG repeats (in the premutation range). Interestingly, however, the current research suggests that individual with more severe tremors are seen to have less severe cognitive issues, on the whole.
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Mood and personal it y. There is an increased chance of premutation carriers experiencing mood disorders like anxiety or depression in general, which may increase in those who develop FXTAS. Men with FXTAS may also experience changes in their personality. For example, some men have become withdrawn when previously they were outgoing, or become hostile and disinhibited when they were mild mannered before.
What is FXTAS? FXTAS is a neurological, progressive condition affecting some premutation carriers of fragile X. It was originally described in 2001 by Randi Hagerman, a developmental and behavioral pediatrician and the Medical Director of the MIND Institute at UC Davis, who then involved the expertise of, amongst others, Maureen Leehey, a neurologist and movement disorder specialist. FXTAS was originally described in older men who were premutation carriers. Amongst males, the symptoms of FXTAS are quite variable but the most common features are: -
Movement and bal ance. Issues may include: ataxia (lack of coordination in walking and, later, movement of limbs), tremor when completing an action (intention tremor), and Parkinsonism (stiffness and rigid movements). FXTAS shares some similar
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FXTAS may also occur in women - there is an
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Fragile X Associated Tremor and Ataxia Syndrome: Who, What, When, How? incidence of approximately 10% based on recent research. On the whole, women with FXTAS tend to have milder symptoms. This is because women have two X chromosomes so, to varying degrees, they have a mixture of premutation cells and cells with an unaffected FMR1 gene (this is known as the X inactivation ratio). Women experience varied neurological symptoms, and tend to have a more Parkinson?s type presentation. Women are much less likely to develop the symptoms of cognitive decline and dementia, compared to men. Of note, it has been observed that some women who are premutation carriers experience clumsiness and balance issues earlier in life (for instance in their 30s or 40s) and, though believed to be associated to being a carrier, this is not believed to be in the same class of symptoms as FXTAS. Though our understanding is increasing, much more research is needed on the effects of premutations on women and FXTAS in females. Prior to developing movement disorders, people often experience numbness and tingling. There is some suggestion that the myelin sheath (the membrane or covering that wraps over the nerves) seems to be implicated as nerves are slower at conducting their messages.
What is t he t imel ine f or FXTAS? The most common age of onset is in the over 70?s but onset can occur earlier, such in the 50?s and 60?s. The older a person is the more likely it is that they will develop FXTAS, especially over the age of 80. There has been some research investigating the average timescales of the progression of characteristics of FXTAS. In terms of tremor, once it presents itself, on average it takes about 9 years before it impacts on daily life. In terms of balance this usually presents a couple of years after the tremor. About 5 years in to the diagnosis falls can become more prominent and by 15 years aids or
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adaptations might be needed to help with mobility. It is important to note that these are average figures and individuals?experiences vary widely. FXTAS can be described as step-like in its progression. People may experience periods of time with little changes in their symptoms , but, if they have a major life event or a setback like a stressful event, becoming unwell or needing surgery, this may be followed by an increase their symptoms and they may need longer to recover. More research is needed to investigate what may be associated with symptom changes.
Treat ment There is currently no specific treatment for FXTAS, and the main aims of interventions are to treat and manage, or slow the symptoms. The first clinical trial for FXTAS was on Memantine (94 people participated). This drug is usually prescribed for Alzheimer?s patients, but, as it seems to have an impact on fragile X protein it was felt it might produce a good response. Outcomes measured were behaviours and tremor, but there was no change. Verbal memory did improve, however. The conclusion drawn from this by the investigators was that the way outcomes were measured in the study may not have been appropriate, so they couldn?t measure what they hoped had changed in effect. It is thought that there may be patients with certain clusters of symptoms for whom this might be helpful, but more research is needed. In addition, some premutation carrier men have responded to dopamine medication- which is the medication used for people with Parkinsons (a condition that shares some features with FXTAS). People with Parkinson?s have low levels of dopamine, and the medication helps to combat this. In contrast, however, later research has shown that
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Fragile X Associated Tremor and Ataxia Syndrome: Who, What, When, How? many premutation carrier men have normal levels of dopamine. In the USA, Beta blockers (to control the tremor) are the most common treatment in primary care. However, the priority is to treat the symptoms and there are no medications that have shown to be effective for all patients. One medication at a time is tried and medication is chosen according to the presenting symptoms.
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decrease as we get older. White matter is the tissue that connects different parts of the brain, in people with FXTAS, we see widespread changes in this type of tissue.
You can read more about research int o brain changes in premut at ion carriers at : www.f ragil ex.org.uk/ research
Concl usion Treat ment of mot or probl ems Physiotherapy can help to manage some of the movement issues and reduce the risk of falls prevention. Exercise generally has been seen to slow neurodegenerative disease. However, this is very important in movement disorders, as it increases stamina and memory areas in the brain. As a result, thirty minutes of aerobic exercise 5 days a week is recommended.
I hope this has made some sense and has been a little helpful. Please look at the video online if you can. She is a really engaging speaker. It can be viewed at: www.f ragil ex.org.uk/ research There is still much to be discovered about FXTAS and how to provide the best support. We will continue to keep you up to date with new information as it becomes available.
Generally, it is recommended that once diagnosed all FXTAS patients should be under the care of a neurologist: a movement disorder specialist is the ideal professional. However, general neurologists are not yet likely to be aware of FXTAS. Cont act us at t he Fragil e X Societ y f or inf ormat ion about FXTAS which can be shared wit h prof essional s about t he f eat ures, diagnosis and management of FXTAS.
What is happening in t he brain when someone get s FXTAS? -
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A defining feature of FXTAS is lesions in a part of the brain called the Middle Cerebellar Peduncles (MCP). This pattern of brain changes is known as the MCP sign, can be detected in an MRI brain scan, and can be used to help diagnose FXTAS. The brain gets smaller at a faster rate than normal - bearing in mind that brain size does
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If you want t o f ind out more or speak t o someone about FXTAS, pl ease do cont act me on 01371875100 or jane@f ragil ex.org.uk.
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Clinic for Genetic Forms of Neurodegeneration & Movement Disorders New Fragil e X-premut at ion Service at St Mary?s Hospit al , Manchest er My name is Dr Iris Trender-Gerhard, and I am a consultant neurologist and clinical scientist in the Huntington's disease (HD) clinic & research team in Manchester. Michelle Bottomley, who has looked after families with Fragile X for many years, asked me not long ago if I would see some individuals with Fragile X premutation. These individuals had either longstanding mental health problems (such as depression, anxiety, obsessive-compulsive disorder, as well as autism spectrum disorders), or had started to experience some problems with their balance, control over movements (slowness, tremor) or memory difficulties. Based on my experience with other neurogenetic conditions like HD, I had an idea of the multifaceted problems Fragile X premutation carriers can be confronted with (like Fragile X-associated-Tremor-Ataxia Syndrome, premature ovarian failure and other problems). Soon I realised that these individuals often don't get the support they need, nor will they get the clinical attention and, where necessary, investigations that lead to adequate treatment and access to supportive care. At the beginning of this year, I succeeded in setting up a new clinic for Genetic Forms of Movement Disorders & Neurodegeneration, where I now can also see individuals with Fragile X premutations and their relatives. We want to establish a comprehensive service for patients and families with Fragile X, as well as set up a database for future research and treatment trials.
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Cl inical Services Working hand in hand with our genetic counsellors and other disciplines (e.g. endocrinology, neuroradiology, neurophysiology), we offer a dedicated, comprehensive service to: -
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Establish a diagnosis, including clinical assessment, diagnostic testing initiation of further investigations (e.g. lab investigation, brain imaging, nerve conduction studies) Initiate treatment Refer & coordinate access to other services such as occupational therapy, physiotherapy, behavioural therapy, social services Offer genetic counselling for patients and family members Educate individuals and families so they understand the condition, how we can help & support them and what they can do about it
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Clinic for Genetic Forms of Neurodegeneration & Movement Disorders Referrals should be made to:
Research Since the relatively recent discovery of FXTAS and other problems caused by the Fragile X-premutation, there is a lot we still don?t know. Research looking into the effects this genetic mutation has on the brain will help us to understand why and how clinical symptoms develop. Insight into the underlying cause of the condition is the base of developing new therapeutic strategies. We conduct various studies in neurodegenerative conditions together with our academic colleagues at the Wolfson Molecular Imaging Centre here in Manchester, and are in the process of setting up a new FXTAS research brain imaging project.
Ref erral s The clinics for adults with possible Fragile X-associated symptoms are held on the fourth Wednesday of the month at the Genetics Department (address see below). Referrals are accepted from GPs, medical specialists, specialist nurses and other healthcare professionals throughout the North-West region.
Dr Iris Trender-Gerhard, Consul t ant Neurol ogist Manchest er Cent re f or Genomic Medicine 6t h f l oor, St Mary's Hospit al Oxf ord Road Manchest er M13 9WL phone: +44 -(0)161-2766510 (secret ary Isobel At kinson) Family members, who may want to discuss how such a condition that runs in the family may impact on them and consider predictive genetic testing, can also be referred to:
Michel l e Bot t oml ey, Principal Genet ic Counsel l or (Address same as above)
For f urt her inf ormat ion al so see our depart ment al websit e: www.mangen.co.uk
From t he Fragil e X Societ y: We are delighted that the team are running this new service and look forward to working with them where possible. We hope that the development of this service will highlight to other NHS trusts round the UK to recognise and provide support to those living with all aspects of Fragile X.
Save t he dat e f or our Birmingham Conf erence! Sat urday 24t h Sept ember, 2016 Our next conference will include talks on carrier-related issues. We are delighted that Dr Iris Trender-Gerhard will be joining us to speak about this service and FXTAS. A full agenda will be released soon via our website and in the next newsletter. We look forward to seeing you there!
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Fundraising Pedal power raises ÂŁ2,500 f or The Fragil e X Societ y! On Sat urday 9t h April , Craig McDonal d (our Chairman), wif e Gil l ian, and t win sons St uart and Mat t hew embarked on a f it ness chal l enge, in part nership wit h t heir l ocal f it ness cl ub.
street collection, as well as from the Tontine staff?s own tip jar ? after they generously donated their lunchtime tips from that day. The McDonald?s said: ?It was a really fun day ? thank you to everyone who took part and who donated money! We are so pleased to have had the opportunity to raise awareness about Fragile X Syndrome in our local community?. Extra special thanks goes to Fiona Blair for organising the event, George Blair who ferried the bikes to and from the hotel, Emma Musgrave for obtaining matched funding through her employer, and Kate and Gorden Innes who permitted the event to be held at the front of the hotel.
The Forever Fit Club in Peebles, Scotland, parked eight spin bikes outside the Tontine Hotel, with staff, friends, family, and other members of the Peebles community aiming to cycle the famous Land?s End to John O?Groats track in virtual miles. The 'Spin-a-Thon' challenge ran from 10am to 4pm, with the time split in to half hour slots for each of the participants. Stuart and Matthew, who live with FXS, got the spin underway and were joined by eager participants and supporters throughout the day.
The McDonal d t wins, St uart & Mat t hew
The Fragile X Society staff would also like to thank everyone involved for organising such a fantastic event. The total amount raised was ÂŁ2,560 ? an absolutely incredible sum, that is vital to our ability to continue providing information and support to individuals and families impacted by fragile X.
The team were thrilled when they beat their target of 873 miles ? the distance between the two points ? with an overall distance of 1071.9 miles covered! The donations poured in from their online JustGiving page, a
Last, but by no means least, a huge thank you goes to Jo Sutherland and Dave Kilgour who run the Forever Fit Club, ?for doing what they do best ? motivating people to work hard and enjoy keeping f it?, says Gillian.
The t eam in act ion!
Inspired t o organise a f undraiser f or us? Fragil e X Awareness Day is on Oct ober 10t h! Get in t ouch wit h sophie@f ragil ex.org.uk f or a f ree f undraising pack, f ul l of ideas!
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issue # 84 | May - August
Fundraising 100+ Cl ub
Good l uck t o...
The 100+ club is a fundraising scheme with monthly cash prizes.
Team FX50 - Andy Oakley, Brent Johnson, Geraint Oakley, Joanne Wiggins Whyman, Lee Kent, Liam Cabourn, Sean Cabourn and Simon Wright - who will be participating in Tough Mudder Midlands on May 21st!
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
x £20 x £100, 2 x £50
Congratulations to the following winners: March -
Pauline Ormerod Teresa Pilkington Craig and Louise Bowman Pam Sutton
April -
Josie and Thomas Wallace Jane Parker Alan Sharrock SamanthaHart
We also wish Jonny Hardiman (our CEO's Brent Johnson wit h son Hedl ey brother!) the best of luck with the Leeds Half Marathon on May 8th!
We l ove our f amil y f undraisers! Since our last newsletter, we've been overwhelmed by the generosity and support of all our family fundraisers. Between you, you have raised over £10,000 in 3 months alone! Family fundraising is a hugely important source of income for us as a small charity, making up a large percentage of our funding each year. In the current climate, accessing funds from trusts and foundations has become increasingly challenging, and so we rely on your ongoing kindness and support. From the London Marathon, rowing the Atlantic ocean, being chosen as charity of the year, numerous half marathons, triathlons, bike rides, the spin-a-thon, and a kilt walk up in Scotland, you have been so busy fundraising for us, whilst raising extraordinary awareness about Fragile X Syndrome!
Also, to Ben and Ryan Alexander who will be hiking Ben Nevis in June! Ryan, who has fragile X, tells us he is excited to take on the challenge!
The Fragile X Staff team can't wait to hear about how you, and all of our other fundraising heroes, get on with your upcoming events! Thank you SO much!
Downsend School Updat e Some of you may remember from our last newsletter the story of student Josie Dell, responsible for us being Charity of the Year at Downsend School in Surrey. The school's fundraising efforts have Josie wit h her continued to amaze us - the total 'Sil ver Smart ies' amount raised currently stands at £5015.95! The school tell us they are still counting 'Silver Smarties', and have 4 times used up the cash bags given by the bank! Thank you!
In memoriam donat ions Marie Sievewright
We are touched and grateful for the donations which we have received in memory of loved ones who have passed away:
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.
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
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Anne O'Brien Mary Kathleen Cox Isabel James Dr. Archibald Brian Smith
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issue # 84 | May - August
Charity Updates Fragil e X and Aut ism: Why get t ing t he right diagnosis real l y mat t ers...
Raising Fragil e X Awareness in t he Wel sh Assembl y!
The Fragile X Society team exhibited at the 2016 AKO Autism Expo on Saturday 12th March. Becky Hardiman (our CEO) gave a talk on the importance of raising fragile X awareness within the autism community.
On March 16th 2016 we called onMembers of the National Assembly for Wales to better recognise and understand the needs of individuals and families living with Fragile X. Approximately 800 individuals in Wales have Fragile X Syndrome and a further 8000 may be Fragile X carriers.
A lack of awareness about Fragile X Syndrome can create missed opportunities for providing people with the most effective support, and so getting the correct diagnosis is crucial for individuals and families alike.
Despite this high prevalence, there are still families experiencing problems accessing diagnosis and appropriate services which creates real challenges. The aim of this event was to raise the profile and understanding of Fragile X amongst those who are making decisions about policy and services.
For an individual, there may be health and learning challenges specific to fragile X, that need different supports from those which would be given as a result of a generic diagnosis of autism. As fragile X is an inherited condition, it may have varying and family-wide effects. Getting the right diagnosis can enable whole families to be proactive in getting the right healthcare, and to make informed decisions. If you'd like to learn more about the similarities and differences between fragile X and autism, or have any questions, please visit our website: www.f ragil ex.org.uk/ f ragil exandaut ism, or call us on 01371 875100.
Int ernat ional Fragil e X Al l iance Launched The International Fragile X Alliance (IFXA), a global network of Fragile X parent support organizations, was launched on February 29, 2016. The Alliance consists of 28 Fragile X parent support organizations from 24 countries on five continents, which includes The Fragile X Society. Members of the Alliance will share experiences, knowledge and content with one another in service to the worldwide Fragile X community. IFXA will also help to form new organizations in those countries where little or no support exists for families. Please visit www.if xa.net for more information.
www.fragilex.org.uk
Together, Becky Hardiman (CEO), Dr Lucia Elghali (Director) and Dorcas Slaney (Director) used evidence from research and lived experience to highlight the vital importance of recognition and understanding of Fragile X. In particular, they were emphasising that utilising information provided by a Fragile X Syndrome diagnosis can lead to meaningful improvements in support. We were delighted to have support from Eluned Parrott AM, Mark Isherwood AM, Kirsty Williams AM and Alun Ffred Jones AM through their attendance. We are particular grateful to Eluned Parrott for hosting this important awareness event, who stated: ?It was a pleasure to host the Fragile X Society in the National Assembly. I hope the event will successfully put Fragile X into members? consciousness, so that when we are developing public policy in health and education, we will be better informed about the condition and the needs of those who have it.?
Many t hanks t o al l t hose who at t ended!
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issue # 84 | May - August
In other news... Our new Fundraising Of f icer!
Cal l f or Case St udies
Last year, Sophie Kashi joined us as our Communications Officer. More recently, she has taken on a full time role to oversee our fundraising activities.
The Fragile X Society is currently in the process of applying for a variety of grant funding, through which we hope to use funds for a number of important projects, including:
Sophie is here to provide tips, ideas, fundraising packs, collection boxes, and ongoing support to all of the lovely people who fundraise for us. If you have an idea for a fundraiser, would like to learn more, or have a chat about how you can help please do contact her via sophie@f ragil ex.org.uk, or call us on 01371 875100.
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Passionat e about art s and craf t s? Member Liz Evans has had an innovative fundraising idea! As a passionate knitter, she is looking for other members who also enjoy arts and crafts based activities, such as painting, sewing, photography, and more. If you fit the bill, and are interested in donating some of your creations for us to sell at our conferences, for fundraising purposes, please get in touch with us via inf o@f ragil ex.org.uk. We'd love to hear from you!
Thank you... Since February, we have received grant funding from The Robertson Trust (supporting our work in Scotland), The Hugh Fraser Foundation, and matched employer funding from Three. Many thanks to all - we are so very grateful.
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Improving the breadth and quality of information we currently provide in relation to Fragile X specific challenges (i.e. physical and mental health, challenging behaviour, anxiety, etc) for both children and adults. Creating a series of practical guides for parents, carers, and professionals on different topics, to improve understanding, support, and care for individuals. Maintaining our free helpline service, and ensuring our support workers access the most up-to-date training and the latest research. Continuing to support Fragile X researchers by promoting studies for family participation, and sharing findings through our newsletter, website, and social media platforms. Providing Fragile X training to health professionals, and in schools. Ensuring we are able to continue offering our Fragile X Conferences for free to all our full members. Plus... some exciting new initiatives!
Within our grant applications we need to provide case studies from individuals, parents, and families willing to share their experiences of Fragile X Syndrome, and how The Fragile X Society has been beneficial. Sharing your story involves answering a series of questions, either via e-mail or over the phone. These case studies are a really important way for us to illustrate the impact of what we do to trusts and foundations, who could provide us with the funding to continue developing and improving the services we offer. As a small charity, it is so vital that we access funding in this way, and we need you to help us achieve our goals!
Member Inf ormat ion Updat es
We endeavor to tell your story authentically, with no misrepresentation, and you may also choose to remain anonymous. We're also happy to send over your case study for you to read over prior to use.
We are in the process of updating the Society's database, and would like to confirm the e-mail addresses of each of our members. Please e-mail susan@f ragil ex.org.uk either from, or with, your current address.
If you're interested in telling your story, or would like to ask a question about our call for case studies, please do get in touch with Sophie via sophie@f ragil ex.org.uk, or 01371875100. We look forward to hearing from you.
www.fragilex.org.uk
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Directors & Specialists Fragil e X Societ y Direct ors
Dr Denise Dew-Hughes, Ed.D Teacher, researcher and author in special education
The Fragile X Society?s Directors lead the charity by advising on financial, strategic and governance issues. If you are interested in becoming a director, please contact Craig McDonald.
Charl es Gibb MA, MSc, Dip Ed, AFBPS Principal Educational Psychologist, The Educational Psychology Practice
Chair: Craig McDonald
Dr Mark C Hirst , BSc (Hons), PhD Head of Cell and Molecular Biology, Faculty of Science, The Open University
Vice-Chair; Steve Harris
Dr SĂŠbast ien Jacquemont , MD Department of Medical Genetics, University of Lausanne
Treasurer: Isabel Stirling Secret ary: Nerina Dewar Ot her Direct ors: Dorcas Slaney; Reem Waines; Alison Evans; Gaia Scerif; Lucia Elghali; Kathryn Silk; Jo Woosnam-Savage; Becky Hardiman; Sally Hicks; Zoe Carroll
All directors can be contacted at info@fragilex.org.uk
Special ist Advisors The following experts volunteer their time to support the Fragile X Society: Dr Angel a Barnicoat , MD, FRCP Consultant Clinical Geneticist, Great Ormond Street Hospital NHS Trust Prof Kay E Davies, CBE, F Med Sci, FRS Department of Human Anatomy & Genetics, University of Oxford
Prof Chris Ol iver BSc MPhil PhD CPsychol AFBPsS Professor of Neurodevelopmental Disorders, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham Prof Gaia Scerif , BSc, PhD Associate Professor and Tutorial Fellow, Department of Experimental Psychology, University of Oxford and St. Catherine's College Dr Andrew St anf iel d MB ChB MRCPsych Senior Clinical Research Fellow, University of Edinburgh Prof Jeremy Turk, MD, BSc(Hons), FRCPsych, FRCPCH, DCH Consultant Child & Adolescent Psychiatrist, Southwark Child & Adolescent Mental Health Neurodevelopmental Service
Want t o hel p l ead t he Fragil e X Societ y? AGM Sat urday 24t h Sept ember 2016 We need passionate people to take our charity forward, particularly people with business or financial backgrounds. Directors are nominated by members of the Fragile X Society and voted for by our membership at our annual AGM. If you are interested in becoming a director, please speak to the Craig McDonald (c_mcdonald@icloud.com) or visit www.f ragil ex.org.uk/ becomeadirect or for more information and to download a nomination form. Nominations need to be received by Friday 29t h Jul y
www.fragilex.org.uk
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 to Friday 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