Newsletter issue # 87 | February - April
Famil y St ory: Vicki & Rohan (Pages 3-4) Mark Hirst : Gene Edit ing (Page 10)
Empl oyment & Fragil e X (Pages 11-12)
Remembering Howard (Pages 6-7)
www.fragilex.org.uk
2
issue # 87 | February - April
A note from us
I cannot believe that I am now writing the intro for the newsletter and it is already the start of February. I don?t know about you but the last few months have been a whirlwind both from a family perspective but also from a charity perspective, and we have some great stuff to share with you as we head further into 2017. I know I have mentioned it before, that as a charity we continue to face into some of the financial challenges that exist in today?s environment. I am, however, absolutely delighted to say that in January alone we have been successful with four grant applications totalling around ÂŁ33,000 which is fantastic news. In particular I would like to thank Sophie in the office for all her hard work and determination in progressing with targeted and quality grant applications that has led to such a brilliant outcome. In terms of wider updates, we are really looking forward to the Research Workshop in March at University of Oxford where there are a number of research specialists gathering for a focussed day to share and plan for research into Fragile X Syndrome. We also have a number of awareness raising events planned, mainly around Rare Disease Day 2017. We are grateful to Wendy and Jane from the office in supporting an event in London. Claire Pollock will also be giving a talk to over 100 people at the Welsh Assembly about her experiences of having a child with Fragile X Syndrome. On a personal note, Gillian, Stuart, Matthew and I have been invited to a reception run by the Salvesen Mindroom Centre, which is being hosted by HRH The Princess Royal. Needless to say, we will be looking for awareness raising opportunities at that, albeit will need to be on our best behaviour when meeting royalty! Fundraising activity continues at pace, which is something we really need to maintain and I am delighted to see that our advert in the last newsletter has prompted a few of you to come forward and express interest in the Ambassador role within your own area/ locality. We will be looking to get that activity up and running which is a great
way to generate both awareness in our communities and also promote some fundraising/ charity work. We are looking at a slightly different approach this year to our conferences, and plan to hold a family conference on the weekend of 23rd-24th September this year at The Thomley Centre - a fully accessible site in Buckinghamshire which houses sensory rooms, a ?teenage den,?and plenty of space for talks and workshops. Further details will be provided in due course, together with details on how to book. For the time being, if you are interested, then please add these dates to your calendar. We also recognise that it is important to maintain an element of information and knowledge sharing, so we are also looking at the potential use of technology and social media to share webinar talks on specific subjects, together with the possibility of having our very own ??Fragile X TV??. Again, further details to follow. I hope you find something useful in this newsletter. There is lots of content around family stories, family fundraising successes, and news from Jane on benefits. I would like to thank everyone who contributes to these newsletters, however if you do have any specific feedback, or suggestions for inclusion then please feel free to contact either Becky or me directly. It would be genuinely great to hear from you and you can contact us on c_mcdonald3@icloud.com or becky@fragilex.org.uk. Finally, on a less positive note, some of you may have heard that Sandra Thoms, our Scottish Family Support Worker, had an accident a few weeks ago and is now recovering from a broken and dislocated shoulder. Therefore I would like to wish her a speedy recovery back to full health. For those of you who know Sandra well, she is not really the sort of person who will sit back and enjoy the time to recuperate! Thank you again for all your support, in whatever shape or form that comes, Best wishes,
(Chairman)
www.fragilex.org.uk
3
issue # 87 | February - April
Family Stories 2016 was an eventful year. It was the year we learned we had Fragile X in our family.
Before she could go on any further, my body started to tremble a little. I remember her asking if I had already seen the results to discuss them with everyone but I hadn?t. Nobody thought to tell your mum, to tell your family, that our lives were changing. She knew straight away that this process wasn?t right, she asked if we wanted to have the others in the room leave, they left and she opened the letter from the hospital and said? ?Your son has Fragile X Syndrome?. I cried.
My name is Vicki and I need to tell you about Rohan and our life with Fragile X. The day I found out you had Fragile X, I just knew they were going to tell me something was wrong. It?s almost been a year now, and I still remember it so clearly. We were sitting in a crowded room at your nursery discussing your development and needs at a multi-agency meeting that cropped up every so often for you. Your Educational Psychologist, your Speech and Language Therapist, your Pre-5 support worker, your nursery Keyworker, your Health Visitor, the manager of the nursery and I. It was crowded. I?d known for a while that your development with speech and, sometimes, understanding was a little delayed; that you were a very active, happy but hyper and emotional little boy; that you went fleetingly from one activity to another without really spending time concentrating on the task. But you were happy, and you were steadily making progress. That?s all that mattered. So, here we all were, talking about you and how you?d been progressing in nursery; how we had little picture cards to help you describe what you wanted or needed; how the nursery were trying to get you to spend a little bit longer at an activity. I never realised that there was something that was going to be said that would change our lives forever at that meeting. We worked our way around everyone, each giving a little input as to how they were spending time with you and what they felt you needed. It got to the Health Visitor, and she said, nonchalantly, ?we have the results of the bloods? ? and I knew just then something wasn?t quite right.
www.fragilex.org.uk
What does this mean? What is our future going to be like? What?s going to happen? What even is Fragile X? There were no answers, only questions. I cried some more. This was my fault. How could this happen? Why weren?t we told any sooner? Why did it need to happen? More questions, still no answers. I drove away, in a daze, tears rolling down my face. I couldn?t control myself. All I could do was cry and think of our future and think what is this thing that I?ve just been told? So many questions then and still so many now. What even is Fragile X Syndrome? It?s exhausting. It?s relentless. It?s heartbreaking. It affects every individual who has it differently. For Rohan, Fragile X can be hand flapping, jumping and running about constantly. It can be not holding eye contact or your gaze, or looking the other way because he?s scared to look at you. It can be making little noises all of the time because he wants to, or maybe it?s because he can?t control it. It can be crying. It can be crying because I?ve told him he needs to go in a bath but he doesn?t want to, looks scared, and shouts ?no like, no like it? even though he loves water and baths. It can be suddenly lying on the road, in the middle of a car park, because all I?ve asked him to do is get into the car or leave a toy in the car that he wants to take into nursery. It can be pushing me over
4
issue # 87 | February - April
Family Stories for no reason. It can be hitting me, but not out of malice, just because he doesn?t know what else to do or say. It can be hand or arm biting. It can be hitting his head repeatedly off a wall, a door, his car seat just because it gets a little too much for him. It?s being constantly emotional and wanting to be by my side, wanting lifted up and carried for ?cuddles?. It?s calling out ?mum? a thousand times a day: for milk; the TV; for my phone, for something on YouTube, to make the screen bigger; for crisps, chicken, chips or whatever; but it?s also to make sure I?m there, that I haven?t left him. It?s not being aware of danger. He can?t walk beside me when we?re out at the shops or walking along the pavement without being in his buggy or me holding his hand tightly. He runs, he would run away or onto the road ? he doesn?t know that it?s dangerous. It can be not finding any words to say, not knowing them or being able to say them. Sounds like I?m just describing your regular 4 year old, right? Well not really? it?s different. Rohan is what is known as ?high functioning?. He can talk to you, whereas others can be non-verbal their whole lives. But Rohan?s speech is limited. He likes to tell you things that he knows ? he can point things out to you like all the different cars, lorries, tankers and busses he sees as we drive along the motorway. He knows the colours of them too. He can tell you his favourite dinosaurs - he can name then all, and tell you their features. Ask him what a Triceratops has and he can tell you it has horns. Ask him how many and he can say three. Diplodocus? Long neck, long tail. Pterodactyl? Wings and a beak. He fascinates me. When he first started to like dinosaurs, we would go over their names and try to pick out some features. We watched the ?Dinosaur Train? over and over on Netflix. One day, he came running up to me shouting ?Brachiosaurus? Brachiosaurs? ? and I had no idea what he was telling me. He ran away and then back again with what I thought was a Diplodocus but kept on insisting it was this Brachiosaurus thing. I argued with him for a short
while over the name and eventually gave up and told him we?d turn to Google for answers. Sure enough, there?s a dinosaur called a Brachiosaurus. FX kids remember words and phrases that they hear and copy them back. To begin with there is a lot of repetition. A lot of the same one word being used over and over. Their vocabulary is very limited and often it is difficult for them to express their needs. Their memory, generally, can be short but excellent when retelling information about a topic that they really love. Rohan can tell you about a horse he met in a field two years ago; it?s colour, the name he gave it as if it were yesterday, but ask him what he did at nursery and he will look at you blankly. This is the one thing I struggle with. I am greeted by the same blank expression each and every day when I ask him how he is, or how was nursery, or what he did that day. I could ask him over and over, and even give him an answer to give back to me but his understanding isn?t there. He may give me a ?uh-huh? if I ask something like ?Did you do some painting today?? but the truth is, I don?t know if he did or didn?t do any painting (unless the paint was all over his clothes). Rohan cannot tell me how he feels. He cannot tell me if he has a sore head, if he?s itchy, if he hurts when he bumps into something. He does know what ?sore? means though. It?s difficult to describe. He knows that if he has a bump or a scratch that it should be sore. He can point out cat scratches on his aunt?s hands or arms and say sore but I don?t know if he knows when it happens to him that it is. When he was a baby and he had a wee tumble or fell over I?d simply say ?oh, up you get? and never make a big fuss about it. My wee baby never cried unless it was an absolute sore one and I thought to myself, ?wow, this technique really is working?. Now I know that it was Fragile X. I will continue to ask Rohan how he is and how his day was or what he got up to and although I know I will never get the answers I want, I will always hope that one day I might and will. Fragile X is a lot of different things, like those I?ve mentioned. Difficult, exhausting, time-consuming, but it is also, strangely, lovable. You will never see the biggest smile on anyone, you will never get the biggest hug from anyone, and you will never feel more loved by anyone other than Rohan?
The Fragil e X Societ y woul d l ike t o say a huge t hank you t o Vicki f or sharing her st ory.
www.fragilex.org.uk
5
issue # 87 | February - April
Family Stories Some of you may be members of our popular Fragile X Facebook group. The group is a safe space monitored by our support workers, where families share stories and advice. Here are just a few of our favourite posts from the last few months... "Harry came home with this today. He is on a supported internship at our local hospital. So proud of himself. He used solder and was helped to put everything in the correct place by one of the medical equipment guys, Patrick, who had also drawn the plan. Amazing what our FX guys can do with help, patience, and sensitivity". Cat herine Krupinski
"Today our gorgeous boy Joel (5 years old) performed on stage at the Curve Theatre in Leicester with his special needs dance class. He didn't freak out with the noise or the lights, in fact he came off stage and clapped himself as everyone was clapping him. A year ago he would never have been able to do this as he would have completely melted down. Go Joel!" Emma Jennings
"10 months ago I decided to set up a disco for people with learning disabilities. Since then we've raised ÂŁ10,000 to buy our own minibus to get the clients to and from the disco. Eddie just came down from his shed where he likes to "invent things" and made this. He's really proud of himself. Us parents know how hard days can be with our kids, but we also know how incredibly proud they make us". Tracey Hemming
"Tom came home from school yesterday and told us he'd been voted in as Head Boy! Proud doesn't even cover it!". Tracy Snow
"Well it's arrived... my Daniel is 21 today. Can't believe it - gone too quick. Yes we know you can be a handful at times but we wouldn't have it any other way. Love you lots big man!" Merryn Bol t on
Join our Facebook group by visit ing: www.f acebook.com/ groups/ f ragil exukgroup www.fragilex.org.uk
6
issue # 87 | February - April
Remembering Howard 5th October 1941 to 30th October 2016 by Kathryn Silk
My brot her, Howard, died unexpect edl y l ast Oct ober. I l oved and adored him. Yes, sometimes he was very hard work but I wouldn?t have wanted him to be different. I know many friends with ?normal? siblings and none have the same magical relationship that I had with Howard. Without him I certainly would have been a different person, but not a better one. Right from my birth he played an enormous part in my life. Howard was 12, and Ian was almost 3, when mum had Susan and me. So, being that much older, Howard was a great help. Of course I don?t remember this but Mum would often praise him and tell me how he would help with our feeds, entertain all three of us and probably delighted in changing our nappies! I have such wonderful memories of my big brother. The bullet points used below are thumbs up as this was a favourite way of communicating for him. Holding planks of wood for Howard to saw, a favourite hobby of his. And yes, I still have all ten fingers! The endless Westerns I've watched because Howard idolised John Wayne - I was not so keen. The bond between Howard and Ian in always looking after one another. Our mutual liking for rock music, much to Dad's displeasure. Searching for every 'new' Status Quo album and Howard finding it first - every time! Shopping in Leicester one Saturday when Howard gave me a spontaneous kiss. In the middle of Boots! And I, an oversensitive teenager, blushed with embarrassment wanting the floor to open up and swallow me. Stupid girl.
www.fragilex.org.uk
Sitting at breakfast; Howard had come to stay for the weekend when he suddenly burst into giggles - he told me he was thinking about the film we'd watched the night before. Taking my young daughter on holiday, with the Leicester family, and Howard pulling faces at Lizzy to stop her crying when she fell over - and it worked. Howard and Lizzy having fun on a see-saw. Going on my first holiday together with Carol - his shared lives carer, and Howard saying with pride, 'That's my sister.' His first flight, when he was 70, and his excitement at take-off declaring the clouds to be like cotton wool. At Alton Towers with Howard, Carol, and Lizzy. He loved rollercoasters and was thrilled when the runaway train did an unexpected third loop, because the operator saw how much he had enjoyed the first two laps. Lots of other holidays with Howard and Carol - to Portugal, Majorca, Sadinia, and Wolverhampton! All in the last five years of his life. Passing the cemetery one Friday and Howard saying, 'I want to see my Dad'. So, that afternoon we took flowers. Our Fridays at the Harvester where all the staff knew him so well, even the kitchen staff where he was the legendary 'Fish, chips and two fried eggs'! The life of disabled people has improved so much in my lifetime and I know that the last fourteen years were some of the best for Howard. He had such a dedicated carer in Carol; he really was part of the family and lived an absolutely fulfilled life. After his death I was moved and felt so much pride, plus brought to tears, by the comments I received about my brother and want to share some of these with you...
7
issue # 87 | February - April
Remembering Howard 5th October 1941 to 30th October 2016 by Kathryn Silk Carol , Howard's 'Shared Lives' Carer
Dr Kiani, Howard's Psychiat rist
?Howard was not a tall man but he filled our home with his presence. He was an incredibly kind man, whether it be his loving attention towards the dogs, picking off a bit of fluff from my skirt whilst sitting next to me in the car on our weekly visits to see his sister, or his consideration towards anyone in the family who was ill.
?Howard was such a nice gentleman. I feel honoured to have known him; his life enriched mine and through knowing him, I learnt to be a kinder and a more empathic doctor. He will be really missed by everybody involved in his care.?
He had a wonderful sense of humour, when once my husband had threatened to throw a cap in the bin that Howard had thrown at him when agitated, Howard's response was, "Be quiet or I'll chuck you in the bin instead." We all fell about laughing which completely diffused the situation. We had so many wonderful holidays together and it was a delight to accompany Howard on his first ever flight abroad. We were so privileged to have Howard living with our family for nearly 14 years. He didn't always know how to express himself but the smile he gave me each night when he said, "Goodnight, see you in the morning," told me he felt secure and comfortable living with us. Oh how I miss those smiles.?"
Paul ine Ul iasz Shared Lives
? Social
Worker,
?Howard was a very special individual who has been around all of my working life (that?s from the late 70s onwards). He was valued by many of the people who worked with him directly as someone who had an amazing strength of character and a great sense of humour... it was delightful to see his personality and vigour being recognised by Carol and her family .? Linda and John, neighbours
Georgia, Carol 's Daught er
?We will miss him, loved him to bits.?
"Howard was first and foremost a kind man. He was an integral part of our family and we shared many happy memories together.
In the 1990?s Linda helped by taking Howard to the hospital when he fell and cut in head and it was bleeding quite badly. Dad was flummoxed; he just didn?t know what to do as he had Ian and Susan to think about. So Linda?s offer of help was so very kind. I have never forgotten this.
Many of my fondest memories as a teenager were the holidays we took in Devon. I'm sure I remember him bodyboarding and much to mum?s dismay, he enjoyed going round the surf shops with me. I got treated to lots more fish and chips because he was with us, this was his favourite food after all. Another thing to mum?s dismay was the fact that he didn't mind my choice of music, which as a teenager, consisted mainly of heavy rock and metal. Howard was always a likeable character and most people found it impossible not to warm to him. I remember one occasion when Howard and I met one of my friends in a pub and he insisted on saying hello to almost everyone there in his charming manner, insisting on a handshake from even the most miserable looking drinkers. And you couldn't help thinking, ?Good for you.? A side of Howard that may not have been visible to all that knew him was his sense of empathy. On several occasions he sensed that mum was upset despite her carrying on as normal, and would repeatedly ask if she was OK. He was well loved by all that were close to him. I'm glad Howard was a part of our family. Let's be honest, no other OAP could rock a baseball cap like he could".
www.fragilex.org.uk
I have written this not just in memory of my brother but to share these comments with you to show the incredible, caring people that became part of Howard?s life. Having a disabled child is so worrying, especially when thinking about the future, but, as these comments show, Howard met the kindest, most caring people you could ever wish to meet. And a message from all who knew Howard well, but especially from Carol, Ian, Susan and I ? ?We are so glad that you were in our life. You were an amazing gentleman and the best of brothers. We love you so much.? Let me finish with a conversation I had with a professional who rang shortly after Howard?s death. When she expressed her sadness at the news I asked if she had ever met my brother. She replied, ?No,? and I said ?I?m sorry?; she had really missed knowing a true gentleman.
8
issue # 87 | February - April
E
traordinary Stories!
A On ce in a Lif et im e Voyage... Last summer, family member Dan Calder had an exhilarating and memorable experience aboard the Lord Nelson, supported by the Enham Trust and the Jubilee Sailing Trust. His mum, Helen, shared the following story with us which was originally published in the Enham Trust's newsletter. Dan is a 15 year old guy who can be described as happy and helpful - a real pleasure to have as company. Dan enjoys going out with his friends, particularly to cafe's, the local youth club, and spending his weekend doing dance and drama. Dan has just started a day a week at his local college and spending an afternoon a week undertaking his Duke of Edinburgh Award. Dan was diagnosed with Fragile X Syndrome when he was a toddler. The impact on Dan includes a short memory span, raised anxiety in unfamiliar situations, impulsive behaviours and sensory problems. Dan is diagnosed as having ADHD and Autism and can struggle to communicate clearly to others. Dan is supported by Enham Trust's Pathways to Adulthood in North Somerset and was accompanied by his support worker, Catherine, on his day sailing trip. The day of the trip was an early start - one filled with excitement and slight trepidation. Prior to boarding the ship at 8.45am, Dan and Catherine were greeted by bacon rolls, coffee, tea, and the obligatory Captain's briefing. Then, they were ready to sail the Solent! The Lord Nelson started with engine power until it became windy enough to let the sails down. Dan got involved in rope pulling to move the mast in to the right position - tough work, which required some relaxing afterwards with delicious cake! The boat navigated its way to the Isle of Wight before turning around to make the journey home. After a hearty buffet lunch, Dan had a go at steering the ship - twice! - forming a bond with the Captain. Dan found the Lord Nelson to be really accessible. Dan's favourite place was on the top deck, where it was open, quieter, and had a comfy chair! As this was such a new experience for Dan, he enjoyed taking the time to sit back and observe others, the view, and relish every moment of his trip. When Dan returned home he was too tired to talk, so got in to bed and slept like a log!
Sid t h e h er o! In the summer Sid's mum, Kerry, collapsed. Sid rang 999, gave their address, unlocked the door and waited outside to guide ambulance men in... what a hero! Sid was shortlisted for the Contact a Family Awards in the Proudest Moment category and he won! Huge congratulations to you Sid from all of us at the Society!
www.fragilex.org.uk
Ku n al an d Ar t abilit y Thank you to Kunal for sharing this picture of a beautiful valentines window display which he recently helped to create, supported by the Artability Learning Disabilities Training Centre in Southend. Got a story you'd like to share? Get in touch! Contact sophie@f ragil ex.org.uk or call us on 01371 875100.
9
issue # 87 | February - April
Opportunities to participate in research February 2017
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
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 practise 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 throughout the 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
www.fragilex.org.uk
St udy Aims t o Decrease Temper Out burst s PREDICTORS St udy (Parent s Resources f or Decreasing t he Incidences of Change Triggered Temper Out burst s), School of Psychol ogy, Queen?s Universit y Bel f ast . 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. Unexpected changes to routines, plans or expectations can be triggers for temper outbursts or difficult behaviours, for people with Fragile X, as well as other developmental conditions. An exciting project taking place at the Queen?s University Belfast aims to equip parents or caregivers with tools to reduce the frequency or severity of these behaviours. The study involves caregivers completing a quick and easy behaviour diary, designed in collaboration with families, about their child?s behaviour, either online or on a smart phone. After this baseline period, parents receive free online training over one month, which includes videos filmed with the help of a child actor. Parents are then able to implement what they have learned and monitor any changes in temper outbursts, using the behaviour diary. 51 families (with families with children with different diagnoses, such as Fragile X, Prader-Willi Syndrome and autism) have taken part in this project so far, to help evaluate the effectiveness of this training. The study is still looking for more families to take part so, if your child is age 7-16 years old and finds unexpected changes difficult, then you can find out more by contacting Dr Kate Woodcock on 028 9097 4886 or k.woodcock@qub.ac.uk, or Dr Clare McGeady on 028 9097 4623 or c.mcgeady@qub.ac.uk. The results of this study will be published via the Fragile X Society when complete.
Read more at : www.f ragil ex.org.uk/ research-news
10
issue # 87 | February - April
Gene Editing and Fragile X Syndrome by Mark Hirst
You may have come across the use of 'gene editing' on the TV, in newspaper articles, or on websites as it's been attracting a lot of media coverage about how it might be used to modify human genes. It has also been mentioned together with Fragile X, so what's it all about? We know that fragile X results from the inheritance of a version of a gene (the FMR1 gene) that has an alteration in its code; this is the change in the ?CGG repeat? and is probably known by most of you. One very recently developed genetic tool has the potential to reset the CGG repeat so that the FMR1 gene functions normally. Two research groups recently showed this was possible in some fragile X cells that were growing in the laboratory. This doesn?t mean a cure, but does mean a new avenue of research is (hopefully) going to develop in which a future therapy might be developed. So that?s why people have been talking so much about gene editing. So, what?s it all about? The story starts in bacteria. These have a type of immune system to protect them from viruses. This immune system works by cutting up the genes of the infecting virus. Researchers have taken the proteins that do this in the bacteria and worked out how to make them cut-up any piece of DNA in any organism, including human DNA. The cuts made in DNA result in the genetic code being altered, hence the description of this tool as ?gene editing?. The technical word for this tool is ?CRISPR/ Cas?and it is being used to edit genes in human cancer cells, in mice that model human diseases and in a large number of organisms used for research. Gene editing is going to be very commonly used; to make novel plants for food, to help develop new medicines and potentially to even to change our own genes. For fragile X, it is going to be very useful for research as it allow us to create cells and animals that best represent
www.fragilex.org.uk
fragile X brain cells, meaning that novel drugs can be more easily tested and screened in the laboratory. This will hopefully speed up their development before they can go into clinical trial. By useful, I mean that it will likely reduce this part of the research by decades, so that is an immediate real benefit to the fragile X community. To edit human cells, the first uses will be with cells that can easily be removed from the body, edited, and then put back safely. Blood cells and cells easily accessible might see this tool work for them first, possibly within the next 5-10 years, once we know that these tools can edit efficiently and not make the ?wrong?edits and cause worse problems (such as cancers). This is being trialled this year and it has huge potential in all areas of human disease, but this isn?t going to work for Fragile X because the cells we need to edit are brain cells. The good news, however, is that the insights and developments other researchers make will ultimately help with tougher cases like fragile X. To reach and successfully edit brain cells is going to be a huge challenge, even if it is at all possible. This is because you need to get the editing tools into organs like the brain and then ensure that they edit correctly. Then there is the question as to whether a fragile X brain cell that is correctly edited so that the FMR1 gene starts to function again will actually then start to work normally. The brain is very complicated and the many thousands of types of cells in it have specialised functions, so even if you can get a cell to work normally again, it will need to work cooperatively with all the other cells to have any effect at all. Again, though, we might be in a position to learn something about this from drug-trials, where the aim is to restore normal cell functions indirectly via a drug. In summary then, gene editing tools have already started to help research progress towards developing potential treatments for fragile X. For the moment, however, they are still a very long way off being used by themselves to treat fragile X.
11
issue # 87 | February - April
Employment and Fragile X: Results of a UK Survey by Jenn Howard, Becky Hardiman and Prof Peter McGill, Tizard Centre, University of Kent.
Having a job can be important for developing skills, independence and social life. People with fragile X syndrome can make a valuable contribution to the workplace. They may need support and it is important that people have access to the most appropriate type of employment for them. However we know that many people with a learning disability face barriers when trying to find work due to lack of support and understanding, lack of opportunities and others attitudes. Little is known about how many adults with fragile X syndrome (FXS) in the UK are in employment or further training. So, in 2016, the Fragile X Society partnered with the Tizard Centre to ask people with FXS, or those who support them, about their lives, including whether they were in work. Responses to our survey were returned from about 90 men and 15 women with FXS (who were 34 years old on average, but varied between 18 and 74), from across the UK. In our group we found that around a third (29% of the men and 33% of the women) were in some sort of employment - either mainstream (fully competitive open employment), supported (working in a mainstream setting but with extra
support), or sheltered (a workplace only for people with disabilities) for at least 1 hour per week. In addition to this, some people were attending further education or doing voluntary work (see Table). Of those who were employed, 36% of men and 17% of women were reported to be being paid below minimum wage Importantly, of those who were not employed, the people responding to the survey said that around a third of men (35% ) and over half (55% ) of the women would like a paid job. The results of this initial survey show that people with fragile X are taking part in a variety of different types of employment with different levels of support, but that there are still more who would like to have access to jobs. If you'd like more information, please get in touch with jane@f ragil ex.org.uk or on 01381 875100 for our 'looking for work' fact sheet, plus further resources.
Men (N=90)
Type of w or k or t r ain in g Nu m ber
Women (N=15)
Nu m ber of h ou r s on aver age (r an ge)
Nu m ber
Nu m ber of h ou r s on aver age (r an ge) 27 (14-40)
M ain st r eam Em ploym en t
5.5% (5)
29.4 (8-40)
13.3% (2)
Sh elt er ed Em ploym en t
18.9% (17)
15 (14-40)
6.7% (1)
30
Su ppor t ed Em ploym en t
4.5% (4)
28.5 (12-40)
13.3% (2)
15 (5-25)
Volu n t ar y Wor k
16.7% (15)
6.4 (1-12)
13.3% (2)
8 (2-14)
St u den t
18.9% (17)
20.4 ( 6-32)
13.3% (2)
22.5 (15-30)
www.fragilex.org.uk
12
issue # 87 | February - April
Finding a Job by Sarah Beal
"As a lot of people know or don't know I'd been unemployed for a while and I kept applying for lots of jobs and getting the odd interviews, but near the end of November I was losing hope. I then found a job for a Marketing Assistant on Indeed and thought I'd apply, but didn?t think too much of it until the next day when I got a phone call asking me to an interview! After I got the interview I found out it was a group one and thought I'm going to fail that but still went along anyway for the experience. I worried for nothing! It was only me and another girl who turned up, so it helped me out and the interview went well. We all had a chat and I got the job that day! On the 9th January I started my new job and as it was the first week it was a bit daunting and I was nervous as well. I
got upset on the first day and also in the middle of the week. I thought about giving up and had so many doubts about it. I didn't think it was the right role for me, but I had a chat with my manager about things and she told me she sees potential in me and I shouldn't just give up. The 2nd week didn?t go as well either. I was still finding things hard and then I had another chat with the person in charge about things and she said I duped her into taking me on but I don?t think I did. I just wanted a job and I thought I'd get the hang of it. In the interview she said I came across as this confident bubbly girl, but that was just an act because I was so desperate for a job. I didn?t think I'd get it anyway but I did and then it became harder. This job role involved phoning people - new and existing clients - and I know this isn't my best skill but I thought I'd be ok. We would have been doing other marketing roles as well but we were concentrating on the ringing part. Starting a new job is always scary and as this was my first proper job. I know it didn?t last very long, but I feel that now I maybe know what sorts of job roles are suitable for me".
Fundraising Updat es... 100+ Cl ub
In memoriam donat ions
The 100+ club is a fundraising scheme with monthly cash prizes.
We are touched and grateful for the donations which we have received in memory of loved ones who have passed away:
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 : December prizes of :
4 x £20 1 x £100, 2 x £50
Congratulations to the following winners: November Pamela Gooderham Maria and Ken Bales Robert Joynson Karen Thorn December -
Claire Moorman (£100) Joyce and Roger Chapman (£50) Sandy Stratta (£50) If you'd l ike t o join our 100+ cl ub pl ease visit : www.f ragil ex.org.uk/ 100-cl ub-f xs t o regist er!
-
Howard Fisher Jeremy Redmile Marjorie Spencer Ernest Smith Joan Turton Sarah Wakeford Rosemary Edna Van den Nieuwengiezen
Support us in 2017 An really easy way to give is by making a one-off donation, or signing up to make regular monthly donations. As little as £3 per month could help us pay to send vital information to a newly diagnosed family. Please visit www.f ragil ex.org.uk/ donat e or call us on 01371 875100 to find out more.
Int erest ed in f undraising f or us? Cont act sophie@f ragil ex.org.uk f or your f ree f undraising pack!
www.fragilex.org.uk
13
issue # 87 | February - April
Charity Updates Rare Disease Day 2017 February 28th marks Rare Disease Day, and we are looking forward to the opportunity to raise vital awareness about fragile X syndrome; not a 'disease', but a rare genetic condition, which falls under the remit of Rare Disease Day's aim to educate society about little-known and misunderstood conditions like fragile X. In support of this, Claire Pollock (one of our family members) will be giving a talk at a Rare Disease Day Parliamentary Reception in Wales on February 14th to an audience of over 100 people, sharing her experiences of having a child with fragile X.
Personal Independence Payment s (PIP) This is a tip for when you are thinking about how reliably a person can complete an activity when filling in the PIP 2 form. You are asked to add further information in the extra information space relating to each activity. Please make sure you do this and give examples of what you are describing. To help you get started use STAR as a starting point. Can they do the activity: -
Safely? Timely? Acceptably? Repeatedly?
This was a tip from the advisor and I think it?s a good one!
Additionally, later this month Wendy and Jane (our support workers) will be presenting at Royal Holloway University's Rare Disease Day event, in London raising awareness and talking to medical professionals. Read more about Rare Disease Day 2017 by visiting: www.rarediseaseday.org/
He also said that a person requiring ?supervision? was not going to be scored. So think this through carefully as you must show that the person needs supervision to keep themselves safe and/ or the people around them.
A not e f rom Jane...
Please don?t forget we have guides to help completing the ESA 50 questionnaire and the PIP 2 form-How Your Disability Affects You. Just give me a call 01371 875100 or email me jane@f ragil ex.org.uk I hope this helps!
I attended a benefit training course towards the end of last year run by Disability Rights UK. As a result there a couple of things that I want to update you with? .. Empl oyment and Support Al l owance (ESA) Briefly, this is the benefit that applies if you are unable to work because of ill health or a disability. You have to demonstrate a ?limited capability for work? or a ?limited capability for work related activity?. This is assessed by the Work Capability Assessment. This involves completing an ESA 50 questionnaire and a possible face to face assessment with a health care professional. What I want to bring to families?attention is the ?risk to health exception? This is becoming more important as many people are not making the 15 points they need to be found eligible for the benefit. If it can be shown that engaging in work related tasks would prove to be a significant risk to themselves, or another person?s physical or mental health, the person applying should be found eligible for ESA. This can also be used as evidence to move someone from the work related activity group to the support group. You would need evidence from a health care professional to help with this.
www.fragilex.org.uk
Coul d you be a Fragil e X Ambassador? We are looking for Volunteer Ambassadors to join our team! We need people who have experience of Fragile X, and who can be the face of our organisation in their community. Our aim is for a network of volunteers to be based throughout the UK, organising fundraising activities, representing The Fragile X Society, and helping to engage people with the work we do as a charity. Find out more about the role by visiting our website: www.f ragil ex.org.uk/ f ragil e-x-ambassadors Please do get in touch with us on 01371875100 or inf o@f ragil ex.org.uk to be sent an application form.
14
issue # 87 | February - April
Charity Updates Research Workshop at Oxf ord Universit y
Recent Grant Funding!
On March 14th our CEO, Becky, will be hosting a workshop for researchers at the University of Oxford. The aim of this event is to bring together the UK community interested in research into Fragile X Syndrome, with the aim of strengthening partnerships. Through this event we hope to consider opportunities for collaboration and consider future opportunities to address key topics of concern to those living with fragile X, using a variety of research approaches.
Those of you who received our 2015 annual review will be aware of the challenging financial position The Fragile X Society currently faces. The economic climate is such that grant funding is harder than ever to obtain, competing against the needs of thousands of other UK charities.
Through a mixture of keynote talks (incuding: family perspective; outstanding questions in our understanding of Fragile X; and experiences of cohort and consortium working, in other syndromes), flash talks of current research and discussion sessions, we look forward to supporting the further development of UK Fragile X Research.
Our thanks also go to Awards for All Scotland, who awarded us just under £10,000 in support of a new partnership project with The Patrick Wild Centre in Edinburgh, through which our Scottish support worker will be creating and disseminating new information packs to newly diagnosed families, and hosting educational awareness events at 4 locations across Scotland.
AKO Aut ism Expo 2017
Lastly, we would like to thank the Goldsmith's Charity for awarding us £3,000 in support of our work with both adults and children throughout the UK.
Anna Kennedy Online is a charitable organisation dedicated to promoting the inclusion and equality of children and adults with an autism spectrum condition throughout society. We are delighted that for the second year running we will be represented at this event. Individuals, parents, and professionals will be able to visit our stall and ask questions about fragile X syndrome and its associated conditions. The event will be held at Brunel University on March 11th. Tickets are available online, here: ht t p:/ / akoaut ismexpo.co.uk/ t icket s/
Fragil e X in t he Cl assroom... The Fragile X Society has partnered with Twinkl - an online resource for teachers providing CPD. Earlier this month Becky (our CEO) and Wendy (our support worker for children) gave an online talk via the Twinkl Teach Livestream outlining a range of educational strategies for teachers working with pupils who have Fragile X Syndrome. Parents are welcome to signpost their child's school to this great resource, or contact us on 01371 875100 to find out more.
www.fragilex.org.uk
With this in mind, we are delighted to report that the Society recently succeeded in obtaining just under £33,000 in grant funding from a number of grant-makers. We would like to thank the Baily Thomas Foundation for awarding us £10,000 in support of our work with children across the UK. In addition, we would like to thank the Childwick Trust for awarding us £10,000 in support of our work with children in the South and South East of England.
We are so very grateful for the support from all of the above.
Member Inf ormat ion Updat es We are using a new database system and would like to make sure we have the right details on record for all our members. In the coming weeks, you may recieve a call from us asking for your e-mail address and other information we might need. If you have any questions, please get in touch on 01371 875100
In memory of David Turnbul l Dave and Jane are very sorry to tell you that their son, David Turnbull, passed away peacefully on 25th January 2017, aged 33 years. His funeral was held on 8th February at Breakspear Crematorium, Ruislip. David can be remembered through a Tribute site at: www.david.t urnbul l .muchl oved.com
15
Directors & Specialists
Fragil e X Societ y Direct ors 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 Becky Hardiman.
Chair: Craig McDonald Vice-Chair; Steve Harris
Dr Denise Dew-Hughes, Ed.D Teacher, researcher and author in special education Charl es Gibb MA, MSc, Dip Ed, AFBPS Principal Educational Psychologist, The Educational Psychology Practice Dr Mark C Hirst , BSc (Hons), PhD Head of Cell and Molecular Biology, Faculty of Science, The Open University
Treasurer: Isabel Stirling Secret ary: Nerina Dewar Ot her Direct ors: Becky Hardiman, Sally Hicks, Kathryn Silk, Marie Williams, Kirsten Johnson, Elizabeth Leath, Joanne Woosnsam-Savage, Jon Shaw, Gaia Scerif, Lucia Elghali, Tally Northey.
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
www.fragilex.org.uk
Dr SĂŠbast ien Jacquemont , MD Department of Medical Genetics, University of Lausanne 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 Dr Iris Trender-Gerhard Consultant neurologist and Clinical Research Fellow Prof Jeremy Turk, MD, BSc(Hons), FRCPsych, FRCPCH, DCH Consultant Child & Adolescent Psychiatrist, Southwark Child & Adolescent Mental Health Neurodevelopmental Service
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 Tuesday, Thursday, and Friday and 1pm - 5pm on Wednesday's, 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, 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