fx info
Summer 2014
www.fragilex.org.au https://www.facebook.com/fxAus
1300 394 636 (free call) or (02) 9977 0074 support@fragilex.org.au
Meet our 2013 Achievers....
and read about Back to School
The Story of Groovy Food
Launceston Workshop & Clinic Report Back
Assessment Clinics
Fundraising Events
Book Reviews
Diary Dates for the Year
Research Matters
Fragile X Fundraiser in Sydney On Sunday 23 February FXAA member Luke Ratcliff (white T-shirt) got off to a very good start on his Stand Up Paddle (SUP) board and completed the 12km race in the top one third of the SUPs! Luke has been a great ambassador for FXS: raising $1500 and promoting FXAA amongst many of the other participants. Thanks to all the families and volunteers who came to Manly Wharf to sell raffle tickets, Page 1
Summer 2014
Fragile X Association of Australia
Achievement Awards The Fragile X Association Achievement Awards celebrate perseverance and successes The Awards are intended to provide inspiration and encouragement to the people nominated and to other families. They were established some years ago because it was felt that many people with Fragile X Syndrome constantly struggle against many obstacles, and that their perseverance and successes are not always sufficiently recognised. This year’s Achievers, some young and some not-so young, have each achieved wonderfully in their own arena, and are an inspiration. Each Achiever will receive an Award certificate in the post.
Congratulations to each of our Winners!! Sporting Achievement: Matthew Phillips played Cricket for South Australia in the Special Olympics in February against Victoria, NSW, ACT and Queensland. Matthew was the youngest player in the Tournament, he played 6 games and never got out. His team achieved a Silver Medal. Matthew has recently been in a swimming Carnival at his School. He swam in 8 races and came first 8 times. He also plays Basketball on Friday nights at Midnight Basketball where he is a very popular member of his team and in the entire competition. Matthew is also practising Basketball with Special Olympics on Saturday mornings and Cricket to represent SA again on Sunday mornings. Nominated by Brenton Phillips Matthew
Miriam
Tom
School Achievement: Miriam Kelleher is always willing to try. She is showing confidence at school in entertaining other children, taking the lead in offering food, showing them her pets and talking to them. She also has shown the school staff she is doing well and this demonstrated by not only being student of the week but also receiving a Principal’s award at school - an honour given to one child in her class each year. Recently she has been doing so well with her ballet when other neuro typical children are not concentrating. She also does gym and her concentration is very good and although the skills are lacking she is always willing to try. Nominated by Bronwyn Kelleher Art Achievement: Tom Mikkelsen is enjoying art and has made great strides with his artwork. Late last year Tom was awarded third place in his age division in the Brisbane Bus and Tramway Special Needs Art Competition. Tom’s winning piece is a black and white picture of cartoon people. Tom’s prize was pencils, a sketch pad and some cash. The prizes were awarded at the Brisbane Botanical Gardens in the Auditorium. Recently Tom has also created some beautiful artworks with assistance. Nominated by: Mel Mikkelsen
Participation Achievement: Patrick Rasmussen’s school puts on a school performance every 2 years. In his first year of school Patrick found the entire experience far too overwhelming – the excitement and unfamiliarity too much for him to cope with positively. Sadly, it was necessary to remove him from the event. This year was an entirely different story! Patrick successfully participated in the school show with great personal satisfaction and purpose. He was very excited, very aware that the focus was on him and very mature in the way he behaved and conducted himself. The show was on a Friday night, after a full-on week at school. It was 2 hours long and as Patrick’s group was the fourth number on stage, it meant a long wait with his group & teachers Patrick before being released back to his parents at the end. We expected a distraught and exhausted child. We were met with a very self aware and proud child who, although tired, was extremely calm, happy and well adjusted. Even when reunited with us, the reports of his conduct backstage were nothing less than top marks. Patrick had been singing his song in the weeks leading up to the event, even showing us a few of his dance moves!! For us, this was such a inspiring development for Patrick and we could not be prouder! Nominated by Sharon Rasmussen
Page 2
Summer 2014
Fragile X Association of Australia
Achievement Awards
Chris
Lynn
Dion
Narelle
Page 3
Sustained Achievement: Chris Parkes has worked on his ten pin bowling skills, listening carefully to his coach and has now been a member of the NSW Ten Pin Bowling Australian team for 3 years. He is hoping to be selected again in 2014. Chris has at present an average of 158 and his highest score is 249. He has won many medals. Included in his achievement over the last few years are the highest male score in the NSW championships, and frequent first, second or third in the A grade men's singles. He plays with tremendous enthusiasm for all those bowling, high fives and claps for everyone who gets a strike or spare. He has helped NSW to come second each year to Queensland. Over the past few years Chris has also achieved the next level in his pay at his workplace. His tasks include mowing, whipper snipping, filling sandbags, filling wood bags and some packaging. Chris also assists in servicing mowers and tractors and is now able to change the blades and spark plugs on mowers - this servicing with his long time supervisor is his favourite part. These have been excellent achievements for Chris particularly considering our battle over this time to get his medication right to control his aggressive behaviour. Nominated by Joan Parkes Family Support Achievement: Lynn Brewin supports her family in special ways. She takes care of her husband who has FXTAS, her son who has Down Syndrome, her grandchildren who are affected by Fragile X and her mother. Lynn portrays a gentle humility and has said that she has a “strong belief in the helping hand of the Almighty”. Her sense of humour, resourcefulness and stamina seem to carry her through some of the more difficult times. She lives mindfully by appreciating small things like the tiny orchid flowers growing in the grass and she consciously chooses to be happy in life. She is a remarkably resilient woman with a huge heart. Nominated by Janie Roberts
Achieving Independence: Dion Butler now 32, left school at the end of Year 10 to work at a local supermarket. He works at the IGA Supermarket in the wonderful community of Balranald. Quite a few years ago now Dion along with a group of intellectually disabled adults were able to participate in their own Debutante Ball. ‘Night of the Stars’ was held in Balranald to raise money to go toward Independent Living Units that were being built on behalf of these very special young adults. They managed to all learn 3 dances admirably. They budget so well that they have been on many trips as a group, to NZ, Fiji, and more! Dion has been living independently for 10 years. An outstanding achievement! He cooks, cleans and budgets with assistance from a service provider. Dion has managed to do all of this and maintain work all of this time, whilst his family had moved 470kms away, so that his brother Toby who also has Fragile X and had completed a Transition to Work program, could access employment. Yes Dion misses us and we miss him so much, but he loves his independence and it is so nice to sit back and feel such pride in his achievements so far. Living so far from us all but always loving to return to his own special home and space after a visit to us. Nominated by Marg Butler
Community Achievement: We have witnessed with respect how Narelle Robertson has blossomed in the years since joining Lions, and in particular since she has come to terms with having the FXS, with its limitations. Indeed, she is now working past the expectations of those limitations, and she is achieving a lot. From at first being shy to socialise and easily thrown off balance, Narelle is now taking on responsibilities in the Club, and doing well with them. Our Club raises money through weekly sausage sizzles, and Narelle regularly does the cooking – a demanding task. She also types up minutes of our meetings. She is happy to engage socially and we have discovered her quick wit! We also understand that Narelle has become happily involved with the local genealogy society, doing computer research. Since first knowing us, Narelle has painstakingly gained her driver’s licence and is considered a competent, safe and careful driver. She has come such a long way in recent years! Nominated by Barbara Shipp, on behalf of the Wonthaggi Lions Club Summer 2014
Fragile X Association of Australia
Back to School Top 10 Things A Teacher Should Know About Fragile X Syndrome Students with fragile X syndrome can often be like the proverbial girl with the curl in the middle of her forehead – when they’re good, they’re very, very good, and when they are bad they are horrid. Knowing these 10 things will help bring out the good and minimize the horrid! The #1 thing teachers should know about students with FXS is that they are prone to hyperarousal and anxiety. It is how their nervous systems are wired. Most recommendations that follow are geared to maximizing focus and cooperation by minimizing hyperarousal and anxiety: The #1 thing teachers should know about students with FXS is that they are prone to hyperarousal and anxiety. It is how their nervous systems are wired. Most recommendations that follow are geared to maximizing focus and cooperation by minimizing hyperarousal and anxiety: 1. Don’t force eye contact. Eye contact will come naturally as the student becomes more comfortable with you. 2. Expect inconsistency. Engagement and performance is likely to vary greatly; it can be difficult to discern why. Try to accept this to avoid frustration; your student will pick up on frustrated energy and that will exacerbate anxiety. 3. Students are “simultaneous” vs “sequential” learners Students with FXS are good sight word learners, but have a terrible time with phonetics. They are motivated by the end result, and impatient with the process. Use backward rather than forward chaining; use checklists to show progress toward an end result. 4. Allow and/or encourage frequent breaks. Accommodate attention deficits by keeping tasks brief. Keep up a good pace – power breaks are short breaks. 5. Verbal expression is cognitively taxing. Provide some non-verbal alternatives for students to show what they know, such as following directions and pointing to visual representations. 6. Think “INDIRECT.” There are times when students with FXS enjoy attention, but most often they are adverse to the limelight. Give compliments in the 3rd person about the student to others within earshot; use incidental learning; include the student in a small group while directing instruction to a peer; avoid direct, open-ended questioning: prompt “The President of the United States is…..” vs. “Who is the President of the United States?” 7. Prepare for transitions. Give 10 and 5 minute prompts. Allow to be at the head or back of the line. Use social stories about routine transitions. Provide a purposeful errand so the focus is on the outcome (e.g. delivering an envelope) rather than moving from one place to another. 8. Work with an OT knowledgeable about sensory integration and embed S-I strategies into the school day. Students with FXS are prone to hyperarousal and anxiety which undermines focusing ability- learn what S-I techniques are calming for your student – heavy work like re-arranging desks, cleaning windows, moving stacks of books? Vestibular input, like going for a walk, doing wall push-ups, swinging, using a skateboard? Integrate these activities throughout the day to sustain a calm, regulated nervous system. 9. Notice environmental triggers. Students with FXS often have sensory sensitivities to sound, light, textures, taste, and smell that provoke hyperarousal. Make adjustments to the environment (dim lighting, allow use of muting headphones) as much as possible.
10.Know FXS strengths. Common strengths associated with FXS are a good visual memory, sense of humor, desire to be helpful, empathic nature, and gift for mimicry. Use visual cues, make learning fun, provide opportunities to be of assistance, encourage providing emotional support to peers, use modeling as a primary teaching technique – embed academics into useful and practical For more information, check out the Lesson Planning Guide (from NFXF),. The introduction is recommended. Laurie Yankowitz, Ed.D. The Vice President of Individual and Family Support Services at HeartShare Human Services of New York. She has more than 30 years experience working with families of individuals with developmental disabilities. This article was reproduced from www.nfxf.org.au, with Laurie’s kind permission.
Page 4
Summer 2014
Fragile X Association of Australia
Back to School New Kindy? New School? New Classmates? Well, the summer holidays disappeared very quickly!! And the kids have started up new routines for 2014. If you’re wanting to introduce teachers or other parents and children to Fragile X Syndrome, to help them understand your child better, there are a range of resources that might help. All these resources are available from the Fragile X Association office: support@fragilex.org.au 1300 394 636 or 02 9977 0074 or www.fragilex.org.au First day at school for Christian Romanski
For carers, family & teachers:
The Fragile What? leaflet is a great brief introduction to Fragile X Syndrome. It’s a small folded brochure, and ideal for passing on to other parents at your school or kindy. One of our members, Isabel, has done just that, dropping copies into pigeonholes at her son’s new kindy. The DVD Understanding Fragile X was made a couple of years ago, and features some of our Association families and doctors discussing Fragile X Syndrome. This DVD might be ideal for new teachers or new carers in your family’s life.
For teachers & families: Fragile X Syndrome: The Fragile X Child in School This small booklet is intended for kindergarten and primary school teachers as a guide to the strengths and challenges of those with FXS. It is based on work done by Professor Kim Cornish from Monash University in Melbourne, and was produced by St Catherine’s School in Melbourne and Monash University . Lesson Planning Guide for Students with Fragile X Syndrome. Very comprehensive 198-page guide produced by the US National Fragile X Foundation. It covers key developmental challenges at the primary, middle and high school levels, a case study on adapting the classroom environment, and specific chapters on subjects including English, maths, communication/living skills. Soft copy available on NXFX website, or from the Fragile X Association of Australia Fragile X Guide for Educators This 12-page article by Australians Dr Mike Field and Professor Kim Cornish is a longer version of The Fragile X Child in School booklet, with fact sheets on x-linked inheritance, and on Fragile X carriers. The US National Fragile X Foundation website has fantastic information resources for families. Check out their Back to School Toolkit, which includes: * Transitioning Back into School and Transition Ideas for School * Positive Student Profile * Sensory Diet - sensory diet template and activities * Lesson Planning Guide (as above) * Top 10 Things a Teacher Should Know About Fragile X Syndrome www.fragilex.org (see previous page) Page 5
Summer 2014
Fragile X Association of Australia
Counsellor Janie Roberts - Book Reviews These two books have come to my attention recently as they have both been written by 13 year old boys on the autism spectrum. The books give personal insights into some of the issues that young people on the spectrum might face and challenge some of the taken for granted assumptions about social awareness and empathy. Some parents have said that their understanding of their own children on the spectrum has been enhanced through the writings of these young authors. Janie
Freaks, Geeks and Asperger Syndrome is written by Luke Jackson who has Asperger Syndrome. He writes with humour, wisdom and logic about issues that have affected him. He gives tips to other children, parents and teachers on subjects such as fascinations and fixations, language and learning, sleep, socializing, bullying and school. The chapter on bullying gives down-to-earth advice on how to handle experiences of bullying and supports the idea of learning martial arts for the discipline as well as for self-defence. Luke notes that people on the spectrum are known to have problems with communication and yet “non-AS people say things they don’t mean, miss out things that they do mean, do all sorts of strange things with their faces which apparently change the meaning of their words – and they say AS people are odd!” He also explains his difficulty with understanding metaphors and idioms and provides a helpful list of idioms and their explanations, e.g., “Throwing a wobbly means to suddenly become very angry”. As metaphors and idioms are so prevalent in our vocabulary it is helpful to be reminded of just how confusing they can be to literal thinkers. Luke describes how he has learned to laugh at such names as “freak” and “geek” and clearly describes what he still struggles with at his age and stage. Many of his family members are also on the spectrum and so he has a range of experiences and characters to draw upon. The book is written to offer information and to let others on the spectrum know that they are OK. As he says “so many books are written about us, but none are written directly to adolescents with Aspergers Syndrome. I thought I would write one in the hope that we could all learn together”. Freaks, Geeks & Asperger Syndrome, by Luke Jackson. First published 2002. Jessica Kingsley Publishers.
Janie Roberts has worked with Fragile X Association as our Counsellor for several years. She has a postgraduate diploma in counselling and psychotherapy and is currently completing her Master’s degree. Janie is a clinical member of Counsellors and Psychotherapists Association of New South Wales Inc (CAPA) and Psychotherapy and Counselling Federation of Australia (PACFA). Prior to training as a counsellor Janie worked for over 10 years with adults and children with special needs in day centres and schools. Janie encourages families, couples, siblings, and individuals to contact her for phone-based counselling support or face-to-face support (in the Sydney area). Counselling is free and confidential. Counselling offers empathetic listening, a non-judgemental attitude, a safe place to vent, and an opportunity to consider new insights and perspectives. Janie has experience with counselling in areas of anxiety, depression, isolation, grief and loss, finding balance, feelings of guilt, maintaining hope, relinquishing care, domestic violence and trauma, and changes in relationships. Janie is in the office 3 days a week: Mondays, Tuesdays, Thursdays Contact Janie: 1300 394 636 (free call) or 02 9977 0074 or janie@fragilex.org.au
Page 6
Summer 2014
Fragile X Association of Australia
Counsellor:
Janie Roberts
Naoki Higashida has autism and was 13 years old at the time he wrote “The Reason I Jump”. Naoki wrote the book using a Japanese alphabet grid to painstakingly construct words that he is unable to speak out loud. He answers a number of general questions about his experiences of autism throughout the book. By answering questions such as “Why do you line up your cars and blocks?” and “Why don’t you make eye contact?”, he gives the reader surprising insight into his world. Naoki’s writing is powerful and often poetic, for instance explaining that: “When I’m jumping, it’s as if my feelings are going upward to the sky”. And when questioned as to why he ignores people when they are talking to him he writes, “A person who’s looking at a mountain far away doesn’t notice the prettiness of a dandelion in front of them. A person who’s looking at a dandelion in front of them doesn’t see the beauty of a mountain far away.” His honesty is touching as he explains that he doesn’t necessarily want to flap his arms, or do something they’ve been told not to do, or ask the same questions over and over just for the fun of it. He suggests that some of it is soothing, some of it is about learning and some of it is simply out of his control. He challenges some of the popular ideas of autism as a social disorder by showing emotional insight and empathy, stating that he loves to be with people and feels bad when he thinks he might have caused them upset or pain. His description of the concept of time is revealing as it is quite different to mainstream ideas for “inside my head there really isn’t much difference between what I was told just now and what I heard a long, long time ago”. Also he states that his emotions are as subtle and complex as anyone’s and that “stuck here inside these unresponsive bodies of ours, with feelings we can’t properly express, it’s always a struggle just to survive. And it’s this feeling of helplessness which sometimes drives us half crazy, and brings on a panic attack or a meltdown”. The Reason I Jump, by Naoki Higashida. Published in 2013 by Sceptre, part of Hodder & Stoughton publishers. Both young authors have written their stories in order to be better understood and to widen the general understanding of people on the spectrum. It is exciting to think that the voices of people on the spectrum might influence mainstream awareness and potentially shape the support that can be offered and the research that might be undertaken. Given the links between autism and Fragile X Syndrome it would be interesting to hear our members’ thoughts on these books. We have them both in our office library if you would like to have a read. They’re also available from online bookstores such as www.bookdepository.com Janie
Coming Soon.... More resources for increasing awareness and understanding of Fragile X. These will be ideal for passing on to people already providing support to your family, or for introducing Fragile X Syndrome to medical and other professionals: * A Glossary of Fragile X Syndrome terms * Information Sheets on specific topics, such as FXTAS These will be available on our website, facebook, and newsletter. Contact us if you’d like to know more
Page 7
Summer 2014
Fragile X Association of Australia
Family & Community Education Day in Launceston
Fragile X Alliance Inc Dr Jonathan Cohen, Fragile X Alliance Mrs Lynn Mason, Chair, Tasmanian Community Fund Wendy Bruce, Fragile X Association of Australia
In late 2013 the Fragile X Association organised a 1-day Fragile X workshop and assessment clinic in Launceston on 1 October 2013, made possible by a grant from the Tasmanian Community Fund. Dr Jonathan Cohen and the team from Fragile X Alliance in Melbourne ran the Workshop for an audience of around 100 people, which included families and carers of people with Fragile X, educators, health professionals and disability service providers. The Workshop covered a range of management strategies relevant to developmental disabilities and autism spectrum disorders. Mrs Lynn Mason, the Chair of the Tasmanian Community Fund opened the Workshop, and welcomed everyone. The workshop sessions, led by Astra, Felicia, Debbie and Rashelle, were practical and interactive; and Michael Cohen and Brooke Carter, young adults with Fragile X, spoke of their experiences. We received some excellent feedback on the day.
Many thanks to the Tasmanian Community Fund for making the Workshop and Assessment Clinics possible.
Page 8
Summer 2014
Fragile X Association of Australia
Assessment Clinic in Launceston The Fragile X Alliance team ran assessment clinics for several families in Launceston on the day before the Family & Community Day Workshop. The sessions were led by Dr Jonathan Cohen, Behavioural Psychologist Astra King, Speech & Language Therapist Felicia Schmaman, Occupational Therapist Debbie Isaac and Behavioural Optometrist Rashelle Cohen. Many thanks to St Giles in Launceston for kindly making their Vos House Respite Centre available for the clinics at no charge, and to the Tasmanian Community Fund for providing funding for the Workshop and the Clinics.
Brooke and Bobbie-Jane
Sophie
Harry and Tommy Page 9
Summer 2014
Fragile X Association of Australia
Fundraising and Raising Awareness A Note from the Treasurer As we start another busy and constructive year in support of all our Fragile X families, I thought it important to remind all members about the Association’s financial position. A key challenge of the role of Treasurer is the constant search for funding for the Association. While we keep the membership fee low to encourage as many families as possible to become involved, we need much wider sources of support to fund our budget. You may be aware that we receive no recurrent funding from government, which makes the generous donations from member families, our philanthropic sources, and our fundraising efforts vital to continuing to provide support services to our member families. All of us who live with and manage Fragile X Syndrome know how valuable and important the work of the Association is, and how much more could be done if we could grow further. So I’d like to encourage all member families to consider making a donation or becoming involved in fundraising with the added benefit of raising the profile of Fragile X Syndrome. Donations over $2 made to the Fragile X Association are tax deductible, and I encourage members and their wider families to consider making tax deductible donations to the Association. Contact the office if you would like to discuss fundraising ideas or ways to donate. All the best to everyone for the coming year, and do think about how to assist your Association. Bruce Donald
Online fundraising is a great way to seek sponsorship for runs or other sporting events. Or you can create your own fundraising event. Contact us for details
Shante Sweeney is organising for Fragile X to become a sponsorship recipient in Perth on 25 May
Trish Piper and Barbie Barratt are long-term supporters of the Association. Their 10th Annual Card Day Fundraiser is on at the Dural Country Club in NSW this March, supported by businesses including Bendigo Bank, Waterford Wedgwood, Corbin & Blair and Bunnings.
A 354 km bike ride! Candy Stingel is once again donning her bike gear and training up in preparation for a huge fundraising bike ride for Fragile X. Page 10
Summer 2014
Alicia in Adelaide is organising a Raffle in March to raise fund to support the Association. The Grange Golf Club has generously donated a range of fabulous prizes. Fragile X Association of Australia
Fundraising and Raising Awareness
Fantastic weather for the 10th Annual Bridge to Beach ocean paddling race, hosted by OceanPaddler and supporting Fragile X Association! 420 competitors paddled 11kms from Blues Point to Manly Wharf. A great day for raising awareness of Fragile X Syndrome, and a great fundraiser.
Many thanks to OceanPaddler, based in Manly, for partnering with Fragile X Association. Congratulations to our fundraising winners: Luke Ratcliff, Pete Tillett, and Team Fat Paddler! And to the winners of our raffle prizes.
Blues Point 7am start
Fiercely contested
A great day had by all!
11 kms across to Manly
A winning fundraiser: Team Fat Paddler
Prizes for paddlers: Yanda from OceanPaddler
Joan at Fragile X HQ
Mich, Penny, Lisa, Luke
Simone and helpers
May fundraising
Page 11
The Mayor of Manly, Hon Jean Hay, with Robyn and FXAA team
Summer 2014
Janie & Marty
Fragile X Association of Australia
Association News…. While we each work part-time, there is someone here in the office every weekday. If we can help with anything please get in touch: support@fragilex.org.au 1300 394 636 or 02 9977 0074 Janie
Joan
Liz
Wendy
For all our latest news: facebook and www.fragilex.org.au
Resources for Raising Awareness
Diary Dates April
Adult FXS Assessment Clinic, Sydney Children’s FXS Assessment Clinic, Sydney
June
Association membership renewals due
July
Adult FXS Assessment Clinic, Sydney Children’s FXS Assessment Clinic, Sydney International FX Conference, USA (16-20 July)
July 22
Fragile X Awareness Day
August
Children’s Christmas Card Competition launch
Sept 6
Fragile X Association AGM
October
Adult FXS Assessment Clinic, Sydney
November
FXAA Christmas cards for sale
December
Children’s FXS Assessment Clinic, Sydney
Brochures, DVD, Bumper Stickers (Free to members)
Dear Friends,
From the President
I hope that you all had an enjoyable holiday season and that everyone is now settled back into school, work, etc. Our office was closed for a period but we have resumed working on a number of major activities. Fundraising and raising awareness are our number one priorities. As our services (such as clinics and counselling) have increased, so have our costs. We’d love more people to contribute to fundraising, so please contact our office, your state representative or Candy Stingel in Brisbane (Chair of the Fundraising Committee). We’ll soon be undertaking a membership drive and would like each member to bring in a new member (someone in your family, school, a therapist, doctor, etc). The free counselling service that we offer, in the very capable hands of Janie Roberts, continues to grow and has now reached over 400 contact sessions per year. This demonstrates the need for, and value of, this extraordinary service that we provide. It is one of the benefits of membership, as many families have realized. This past weekend saw the running of our new fundraising/awareness event, the Sydney Harbour Bridge to Manly Beach Paddle Race. It’s an annual event organised by the OceanPaddler business in Manly. OceanPaddler took the Association on board as their inaugural charity partner. Thanks to all the families and volunteers who came to the event to sell raffle tickets, rattle donation tins, hand out prizes and run errands. Oceanpaddler has invited us to join with them again next year so we are absolutely delighted about this. It’s a fantastic awareness raiser, and has successfully raised funds for the Association. In other news, late last year we ran a very successful workshop in Launceston that was attended by around 100 people. Our Children’s Christmas card competition in 2013 was a wonderful new activity and the two children who won received T-shirts with their drawings on the front. Both families were delighted and have been very proactive in selling cards. Thanks to them and others we sold almost 4,000 Christmas cards! I would like to wish you all a productive year and let’s get together to support the estimated 100,000 people with FXS in Australia. Best wishes. Robyn Iredale
Page 12
Summer 2014
Fragile X Association of Australia
Fragile X Assessment Clinics Fragile X Association: Adult Clinics in Sydney Three FXS Adult Clinics in Sydney are provided by the Fragile X Association (FXAA) each year; there are currently 5 places available for 2014. The clinic is a joint venture of the FXAA and the NSW Developmental Disability Health Unit held at the Royal Rehabilitation Centre in Ryde. The adult clinic is available for individuals aged 17 years and older, and open to people from any state if they can travel to the clinic. The initial appointment is with a doctor who has extensive experience of Fragile X at The Developmental Disability Clinic in Ryde. It will include a full medical examination and the doctor will give advice regarding medications and services that can be accessed by the person with Fragile X. If necessary, referrals can be made to other specialists. There have been some good outcomes from the adult clinic. The following is a comment from a family member who attended our adult clinic with her brother: “Dr Law at the Clinic was amazing; she knew just how to handle my brother and he was on his very best behaviour. The Clinic was great and very helpful; Dr Law gave us some tips for getting through to the Ageing, Disability and Home care for them to get the ball rolling for my brother’s accommodation. I will follow her advice”. Dates Available for FXAA Sydney Adult Clinics 7th April st
21 July
1 appointment at 10:30
27th October
2 spaces : 8.30 and 10.30am
1 space at 8.30 am
If you would like to secure a place at the adult clinic or know of anyone who may benefit from this clinic please contact Joan by email joan@fragilex.org.au or call the FXAA office on 02 9977 0074 or 1300 394 636
Fragile X Association: Children’s Clinics in Sydney The FXAA funds a children’s clinic 3 times a year in Sydney with two children’s places available at each clinic. The clinic is run from the Children’s Hospital in Westmead. There is a fantastic team of experts involved, including a speech therapist, occupational therapist, psychologist and a Genetic Counsellor. The team is headed by Dr Natalie Silove who is a Developmental Paediatrician and head of the Child Development Unit at Westmead. This is a comment from a family member who attended a Fragile X children’s clinic at Westmead with her son: “We found the clinic great, we got more info in 2 hrs than we have in 3 years. We wish it went for longer or that we could have regular visits or contact because it made such a difference to deal with people who knew about FXS”. There is a waiting list for the 2014 children’s clinics which are being held in April, July and December. Please contact Joan at joan@fragilex.org.au at FXAA for more information if you wish to be put on a waiting list
Fragile X Alliance: Adult and Children’s Clinics in Melbourne The Fragile X Alliance in Melbourne, headed by Dr Jonathan Cohen, also offers specialist Assessment Clinics for both adults and children. Where a family is a member of Fragile X Association, the assessment is funded by FXAA and provided by Fragile X Alliance. The Fragile X Alliance Clinic was established in April 1998 to meet the specific needs of families. It is a FXS-specific evaluation and treatment centre, and is unique in that families and carers bring both children as well as adults to be seen. For children, the emphasis is on identifying the educational, behavioural and support options that will enhance family life and optimise the child’s abilities. The clinic is staffed by a multi-disciplinary, specialised team who provide services including: medical evaluation and assessment., psychological evaluation and treatment, speech and language evaluation and therapy, occupational evaluation and therapy, educational strategies, optometry, audiometry, genetic counselling and support. Contact Fragile X Alliance if you would like further information or to book an assessment: (03) 9528 1910 or see www.fragilex.com.au/fxa-clinic/ Page 13
Summer 2014
Fragile X Association of Australia
Family Stories
The Story of Groovy Food It all started with a passion, a passion for cooking and eating ice cream and a passion for entertaining. Join these together and Groovy Mood Food is born. By Liza Roberts Zachary was completing his final years of high school and one day said “mum I want to have my own company” Well this was the start. So I asked Zachary, “what sort of company?” I left him alone to think for a while and then he came back to me with some ideas and drawings. Zachary drew a blue print of a gelato company, with lots of stick figure customers walking up to a shop with dollar bills in their hands and walking off happy with an ice cream in their stick hand. From this idea we talked, dreamed, shared ideas, started making gelato and talking to others about it. We had help from Carers QLD, through a transition program which supported Zachary with his very own ice cream machine, laptop and a little money towards cooking utensils. We had assistance from Many Rivers, regarding the business side and how to get started. We tested our products on everyone who would try them, and set up a face book page. I had to complete a food handler’s qualification, apply for food licences and negotiate commercial kitchen space. Suddenly it was starting to gain momentum, and we got support from family and friends, and even total strangers. This spurred me on to look for work experience opportunities for Zachary in the hospitality field, and after some introductions, lots of questions and small steps, Zachary completed work experience and has moved on to some casual work with a nearby takeaway with a wonderful boss Laurelle. This work has helped him to gain confidence, learn to follow instructions and complete tasks that are helping him in his business. Zachary is involved in all aspects of his business from designing the logo, posters and marketing materials. He negotiates sales to retailers and has so far two retail shops who are taking his products. He promotes his business with an Austin Powers inspired character, which he takes to expos and hopefully soon markets. We are using our disability support funding through your life your way to pay for a support worker , Rhonda, to assist Zachary with making the gelato. She has been a wonderful addition to the business, is hospitality trained and has some excellent contacts in the community. We have overcome many challenges and still are working through them. Zachary has a sensory issue with eggs, and even with persistence cannot be near them when they are added to the other ingredients. We have the use of a commercial kitchen; while the business is operating so have to keep learn to work together. Zachary has the opportunity to see a real kitchen in progress, and I am hoping that he will pick up more skills this way.
Page 14
Summer 2014
we
Fragile X Association of Australia
Family Stories Zachary is enrolled to complete a hospitality course at TAFE this year, and we have support from TAFE teachers to build on his cooking skills to assist his business. We hope to start to sell at local markets and make products to order. Our range so far includes Gelato, sorbet and Friands. Zachary comes up with the most delightful names for flavours such as “love potion” and we are always coming up with new ideas for flavours and or places to sell. It is still early days, and we are settling into the routine, of three afternoons a week for shopping for ingredients, making sugar syrups, custard mixes, adding them to the ice cream churner which only makes 7 small tubs at a time, but everyone starts somewhere don’t they? It is a journey, and we have our eyes set on getting Groovy Mood Food out there for more to see and taste, we would love to open up the business to other young people with a disability who can contribute to its operation and success. Zachary would one day like to attend a real gelato making course, and get a bigger gelato machine that churns larger batches. But as Zachary says, “Come on Mrs Groovy Mood Food, let’s go!” Find us on Facebook under “Groovy Mood Food”: https://www.facebook.com/pages/Groovy-mood-food/580702148634606 or email: groovymoodfood@yahoo.com.au
Sunshine Coast Playgroup Fragile X Association member Isabel is keen to promote a local playgroup: Goodlife Special Needs Playgroup is about having fun with your child and having a chance to build positive, long lasting relationships with others in your community. Meeting fortnightly on Fridays from 10.30am to 12.30pm in the Goodlife Creche. There will be regular speakers sharing on a variety of special needs issues that will hopefully equip you in caring for your precious little one. Goodlife is located at 100 Buderim Pines Drive, Buderim, Sunshine Coast, Qld 4556. Contact Isabel on 0419 704 881 or isabelchristian@bigpond.com
Owen loves his playgroup! Page 15
Summer 2014
Fragile X Association of Australia
More Association News…. In WA Jeremy and Shante Sweeney are the key Fragile X Association contacts. Jeremy is on the Board of FXAA. Jeremy & Shante plan to organise four family get togethers in Perth every year. The first is set for Sunday 30 March, at Hyde Park at 11:30am, with others planned for June, September and December. Shante and Jeremy are very happy to be contacted for any sort of information regarding Fragile X in WA or information about Fragile X Association. Let Shante know if you’d like to be hooked up to the WA Fragile X Facebook page. Contact: ripper-sebbes@hotmail.com
Jeremy, Shante, Tyler
In Queensland, Candy Stingel is the key contact.. Please contact Candy for any information regarding the Fragile X Association, or any get family togethers being organised in the Brisbane area. Candy is also on the FXAA Board.
Candy & Hunter
Get in touch with Candy if you’d like to be involved in any fundraising, or want to connect with the Queensland Fragile X Facebook page:
In NSW a Sydney family picnic has been arranged for Sunday 9 March, at Winnererremy Bay Park (also known as Flying Fox Park) in Mona Vale Park from 11am. The Park is just off Mona Street and has BBQs, picnic shelters, open grass areas, and a bike path. Bring your lunch & drinks, your picnic rug, bikes and sunscreen! There is also a cafe nearby - Flying Fox Cafe.
In Victoria Bronwyn Kelleher has arranged a series of regular get togethers for families and carers. There’s a get together held each month, at a different location each month so that the meetings are accessible to everyone. The March get together is coming up. Contact Bronwyn at bronwyn@seanwyn.net or see the FXAA Victorian facebook page.
Get togethers in other areas: if you’re organising a Fragile X get together in your area let us know so that we can let others know to get in touch with you: support@fragilex.org.au or 1300 394 646
Fundraiser idea
Lose the Xcess for Fragile X!
Join Simone on a fitness and fundraising mission!
Christmas festivities left your clothes feeling a little tighter? Keen to fulfil your 2014 New Year’s Resolution? Need to be fitter to deal with life’s challenges and demands and want to have an inbuilt incentive and additional accountability to keep you on track? Ask your friends, family, work mates, neighbours and others to sponsor you an amount per kilo, per 10 kilos and an amount for when you reach your goal!
Begin by registering on MyCause : www.mycause.com/events/losetheexcessforfragilex For more information contact Simone Zaia on 0408 683 597 or contact us in the FXAA office: 1300 394 636, 02 9977 0074 or support@fragilex.org.au
Page 16
Summer 2014
Fragile X Association of Australia
Research Matters Summary of of Tracey Williams' PhD Findings on FX Girls Through a series of four studies, my PhD thesis aimed to provide a more detailed investigation of the cognitive, behavioural and psychophysiological aspects of how individuals with Fragile X syndrome (FXS) take in and use social and emotional information. It explored conscious recognition of (eg, labelling of) facial expressions within FXS, while also investigating different components of automatic (internal) emotional processing – visual attention and the body’s arousal levels. Overall, the findings from my thesis suggested that automatic emotional processing is relatively intact in individuals with FXS. However they do display difficulties explicitly recognising emotions and they also show abnormal social judgements. This is particularly true for negative emotions such as anger and sadness. These findings lead the way for further research into the mechanisms that underpin social and emotional processing within FXS. Future research also needs to consider the influence of psychological factors such as social anxiety. As our understanding of these social difficulties increases, we can ultimately turn our attention to individualised intervention and treatment programs to either remediate or compensate for the social difficulties faced by individuals with FXS in their daily lives. I would like to thank all the participants and their families who selflessly gave up their time to participate in my research, the Fragile X Association of Australia for all the support over the years, and also Carolyn Rogers and the GOLD Service at Hunter Genetics. Publications from Thesis: Williams, T.A., Porter, M.A., & Langdon, R. (In Press, accepted 9 April 2013). Social Approach and Emotion Recognition in Fragile X Syndrome. American Journal on Intellectual and Developmental Disorders. Williams, T.A., Porter, M.A., & Langdon, R. (In Press, Accepted 30 November 2012). Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome. Journal of Autism and Developmental Disorders. doi: 10.1007/s10803-012-1737-z Williams, T.A., Langdon, R., & Porter, M.A. (2013). Hyper-reactivity in Fragile X Syndrome Females: Generalized or Specific to Socially-salient Stimuli? A Skin Conductance Study. International Journal of Psychophysiology, 88(1), 26-34, doi: 10.1016/j.ijpsycho.2012.12.009 Shaw, T.A. & Porter, M.A. (2013). Emotion recognition and visual scan-paths in Fragile X syndrome. Journal of Autism and Developmental Disorders, 43(5), 1119-1139, doi: 10.1007/s10803-012-1654-1 Please email Tracey Williams if you have any questions, or you would like a copy of these publications: tracey.williams@mq.edu.au
Enhancing learning capacity and academic outcomes using novel gaming technology in primary school children with developmental disabilities Professor Kim Cornish and her team at Monash University in Melbourne are working on a new study that aims to improve attention difficulties in children. Concentration and attention problems have a significant impact on educational achievement and social integration. We have therefore developed a cognitive training program specifically for individuals with developmental disorders in an attempt to improve attention skills. This program utilizes current android technology to provide an adaptive training program that runs on tablets similar to Ipads. This not only provides a platform that children are likely to engage with, but also means that the program is portable.. What does the study involve? The study would involve you and your child attending a session at Monash University’s Clayton Campus. Your child will complete a series of tasks which will provide us with important information about their unique profile. As a parent you will be asked to complete several rating scales regarding your child. At the end of this session you will receive one of two training programs. Your child will be asked to play the game at home, for 16 minutes per day, five days a week for five weeks. After this five week period, we will reassess your child to see if any changes have occurred. Brief assessments will occur again at 3 months. Your involvement in this study will provide important information about how effective this training program is and as such we are keen to share the results of our study with you personally, as well as via the Fragile X Association. In addition as a thank you for your participation you and your child will be allowed to keep the tablet once your involvement in the study is complete. If your son/daughter is aged between 4 to 10 years, has been diagnosed with an intellectual disability and would like to participate in this project then please contact Hannah Kirk: hannah.kirk@monash.edu or (03) 9905 0230.
Page 17
Summer 2014
Fragile X Association of Australia
Research Matters Study now extended to include NSW: Developing new Tests for Fragile X: Aiming to Improve Outcomes for Children and Their Families Through Earlier Diagnosis Fragile X syndrome and associated disorders are caused by an alteration in a gene called FMR1. In this study we will test a number of new highly accurate laboratory methods which can tell us about a person’s level of the FMR1 gene activity. We want to find out how early after birth these tests can be used to predict intellectual disabilities, behavioural problems and autism in children and adults who have expansions in the FMR1 gene. We also want to find out why some people with medium expansions in the FMR1 gene develop medical problems while others don’t. We hope that this research will lead to earlier diagnosis and a better understanding of the needs of families with medium and large expansions in the FMR1 gene. This may lead to improvements in quality of life through earlier access to intervention programs. Victoria: Taking part involves one visit at The Murdoch Children Research Institute. Participants must be under 42 years old. NSW: Taking part involves one visit at the University of Sydney. Participants must be under the age of 18. What are the possible benefits of this research? This research will help us to have a better understanding of the problems that are caused by medium and large expansions in the FMR1 gene and may help to develop better treatments and early intervention programs in the future. Depending on the outcomes of the assessments we do for you and/or your child we may be able to discuss with you any potential referral for specific intervention programs in the future. Also, if you choose to, we can provide you with the results of your genetic and psychological testing. Contacts for Victoria: Justine Elliott (or Alison Archibald) Research Genetic Counsellors Murdoch Childrens Research Institute (03) 9936 6047
Contact for New South Wales: Carolyn Rogers Research Genetic Counsellor Ph: (02) 4985 3100 Carolyn.Rogers@hnehealth.nsw.gov.au
Further details of the study are on www.fragilex.org.au
Study: Eye Movements and Attention to Gaze in Fragile X Syndrome and Autism Spectrum Disorder We are seeking male volunteers, aged 12 - 30+, diagnosed with Fragile X, High Functioning Autism, or Asperger’s syndrome to participate in research at Monash University in Melbourne to examine visual attention. We hope this study will shed some light on the way people with Fragile X, High Functioning Autism or Asperger’s syndrome visually explore their environment and respond to visual social cues. Volunteers will be asked to attend a 3-hour session at Monash University during which they will complete several short eye movement tasks that involve looking and following shapes on a screen or responding to cues given by an arrow or by human eyes. There will be some other activities such as responding to shapes in a computer program, providing short verbal answers, tapping and arranging blocks or analysing patterns. The assessment will be conducted in the Eye Movement laboratory located in the Monash Biomedical Imaging facilities, 770 Blackburn Rd, Clayton. Appointments can be made for weekdays or weekends. Volunteers will be given 2 movie tickets in appreciation of their time. Contact: Esther Ginsberg PhD Candidate Ocular Motor Laboratory, School of Psychology and Psychiatry Monash University Esther.Ginsberg@monash.edu (03) 9905 3947
Page 18
Summer 2014
Fragile X Association of Australia
Research Matters Genetic Disorders in Children: An Assessment of Parental Coping Strategies and Positive Growth In 2012/2013, we looked at traumatic experiences that parents of children with neurodevelopmental disorders go through. We conducted a survey relating to how and when you found out your child had a genetic condition. We also examined whether you had told your child of their diagnosis. The vast majority of the parents reported that getting the diagnosis was an extremely challenging and distressing experience. However, we found that these families displayed remarkable strengths in dealing with adversity and that the many parents learn to accept the diagnosis; or even report positive changes such as stronger family relationships. Following on from that study, we would like to further investigate how your child has impacted your life. We are interested in your emotional reaction, how you coped, and how resources (such as social support) have helped or hindered your experience. There are no direct benefits from participating in the study. However, we hope it will help us to gain a broader understanding of issues facing parents and caregivers to children with both diagnosed (e.g., Fragile X syndrome) and undiagnosed conditions. We hope that the results of the study may improve health care processes and models associated with these conditions. Your input is very important to us and as such we are keen to share the results with you. Once you have completed the questionnaire, you have the opportunity to request an easy read summary of the results from the project, which will be provided at the conclusion of the study. Alternatively, you can contact the researchers. We will also make these results available on the study website and via the Fragile X Association website. If you would like to read more about the study, begin the questionnaire, or read the results from the 2012/2013 study, please follow this link: www.wix.com/c3094005/geneticdisorders If you have any questions please do not hesitate to contact us: Jane Goodwin (PhD Candidate) University of Newcastle (02) 4348 4530 Jane.Goodwin@uon.edu.au
Dr Linda Campbell (Chief Investigator) University of Newcastle Linda.E.Campbell@newcastle.edu.au
Update on “Message in a Bottle” Study If you had the chance to send a message to your primary care provider about the health and care of your adult child…what would you say? Families of adults with intellectual disability and specific syndromes have a wealth of experience and knowledge about the associated health issues. We seek to gain a deeper understanding of the concerns and needs of adult patients with specific genetic syndromes from the people who know them best. QCIDD (Queensland Centre for Intellectual and Developmental Disability) and UQ School of Medicine are undertaking research with the ultimate goal of your words, experiences, and feedback reaching the primary care providers in an effort to open up the conversation about improvements to be made and the needs of adults and their families. The survey link was posted on the FXAA Facebook page late last year. The responses received so far through interview and online survey have provided clear, compelling, and multi-faceted messages of important issues and challenges that families of an adult child with a rare genetic syndrome face every day. Many of these complications and issues appear to be largely avoidable though improvements in primary care provision; through the need for greater transparency, honest and open communication, and above all respect for both the adult child themselves as a valuable and unique individual, and the family who provide the greatest insight and understanding of person’s medical history and when there are changes which require attention. It is through the observations and experiences of the parents and caregivers that this vital patient information is provided, which is imperative to the delivery of safe and effective healthcare. The richness of data received is not adequately reflected in this short piece, and the researchers Carmel Blackburn (UQ Summer Research Scholar and Nursing student) and Miriam Taylor-Gomez (QCIDD and UQ SoM) would like to thank the contribution that the Fragile X Association and its members have made in obtaining this information. We will keep the Association updated quarterly as the process moves forward.
Page 19
Summer 2014
Fragile X Association of Australia
Page 20
Summer 2014
Fragile X Association of Australia