fx info
March 2015
www.fragilex.org.au support@fragilex.org.au
1300 394 636 (free call) (02) 9977 0074
In this edition:
Fragile X Workshops in March - Programs and Registration Details Family Stories - Daniel is Zoo keeper for a Day! Thanking our supporters Communication and Fragile X - Connecting and Respecting Fragile X Association - The Year Ahead Establishing Fragile X Hong Kong Boosting Awareness of Fragile X within the Medical Community Research Matters - Findings from Australian Study of Fragile X Carrier Women Fragile X Wears Colours for World Autism Day Team FX! Manly Wharf Bridge to Beach race in Sydney on 22 March - Supporting Fragile X
Q&A with Dr Marcia Braden Dr Marcia Braden is coming to Australia for just a short time at the end of March - unfortunately her schedule has limited the number of workshops she can present at this time around. We know this means that many of our members will be unable to attend a workshop. We’re keen to share Marcia’s expertise and experience in behaviours and education as widely as possible. So we’ve asked Marcia to take part in Question & Answer-style interview on video. The idea is that her amazing expertise and experience can then be shared with all our families online. To make sure that the video covers the area most relevant to families, we need YOUR HELP. We need YOUR QUESTIONS, and we’ll ask as many of them as we can during the interview. What questions would you like us to Marcia on your behalf? For example: How might I help my son with transitioning from home to school? What advice can parents give to teachers to help them understand sensory issues? Please phone or email ANY questions for Marcia by Monday 16th March. Call the Fragile X Association office on 1300 394 636 OR email support@fragilex.org.au Page 1
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Places Available! Call 1300 394 636
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Melbourne Friday 27 March 2015 The Bentleigh Club, 33 Yawla Street, Bentleigh
Sydney Monday 20 March 2015 Yhotel Hyde Park, 5-11 Wentworth Ave, Sydney CBD
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Daniel is Zoo keeper for a Day! Daniel is a very happy and placid child who recently had his 14 th Birthday. Like many parents we wondered what present to get. Daniel didn’t need anything so we started thinking about what experiences would he enjoy. I had heard about different activities that Symbio Wildlife Park (Helensburgh, in NSW) offered and decided to give them a call. One experience we thought he would love would be Zoo Keeper for a Day. As they had programs for younger children, this was the best option. Being Zoo keeper for a day is working with one of the Keepers to see what a day as a keeper is like, feeding animals and cleaning habitats and getting close up with some of the animals. I spoke with Michelle Aldred, the Employee Relations and Administration Manager at the Zoo. She was fantastic. I gave full disclosure about Daniel’s Fragile X; even though he is high functioning there are still limitations that needed to be addressed for the safety of the other Zoo Keepers, staff and animals. Michelle and I discussed what obstacles could occur and how Daniel would react and what needed to happen. As much as the limitations needed to be given I also explained all of Daniel’s strengths. I was asked if I’d like to stay with Daniel, but I chose not to as Daniel acts very shy when I’m not around and generally doesn’t if I leave him with others. I was confident that Daniel would cope well without me. Michelle was very understanding and said she would be happy for Daniel to participate in the Zoo Keeper for a Day experience. We arranged that I would be no more than 15 minutes away from the Wildlife Park as a precaution. So, on the 17th January Daniel became a Zoo Keeper for a day! We arrived at 8:30 am and met Zoo keeper Emily. It was at this point I thought we might have a bit hesitation from Daniel, as I was leaving him with someone he didn’t know. Emily was lovely and spoke with Daniel immediately, I signed some paper work and he was set. To my surprise he was happy for me to leave and walked away confidently. It was at this point I knew he was going to have a fantastic day and that I had nothing to worry about. I returned at 2:30pm and waited in the foyer Daniel walked in with Emily. I thought they’d finished, until he waved at me and said I haven’t finished yet. They walked out and I had this overwhelming feeling of pride and happiness. His face, albeit hot and sweaty, told a million words, and the smile on his face and the excitement in his eyes was well worth it. When Emily Brought Daniel back at 3pm, she told me he’d been great and they had a fantastic day. Emily had taken photos throughout the day and gave us a disk of his memories. I couldn’t wait to see them. As I looked through the photos I could see how happy Daniel was but it was when I saw the photo of Daniel with his host Emily holding a baby alligator that I realised he was accepted. The picture literally brought tears to my eyes. Emily made Daniel’s experience one he will remember; it takes a special kind of person to make others smile. I followed up with Michelle to thank her again and she had told me that she had made all the staff aware of Daniel’s needs and that they’d be happy to host him again in the future. Symbio Wildlife Park 7-11 Lawrence Hargrave Drive Helensburgh NSW 2508 02-4294 1244 www.symbiozoo.com.au
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Too often people with Additional Needs are excluded, but Michelle, Emily and all the Staff at Symbio WildlifePark opened their hearts and accepted Daniel. I can’t thank them enough.” Tina, Daniel’s mother
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Thank you to our supporters!
In January this year Masonicare made a very generous donation of $3,000 to support the operations of Fragile X Association. This donation was made to match the $3,000 raised for Fragile X Association by the Galston Garden Club’s Open Garden Day in 2014.
Lord Peter Wright (Freemasons) and Dr Graham Piper (Galston Garden Club) and Robyn Iredale (Fragile X)
Trish and Graham Piper have supported the Association through fundraising over many years., through an annual Card Day as well as the Open Garden Event in Sydney. Freemason Lord Peter Wright came to the Fragile X office in Manly to present the cheque in person.
Thank you to the Powlett Masonic Lodge in Wonthaggi, which has sent a generous cheque in support of Fragile X Association. Thanks to Narelle Robertson, for introducing the Fragile X to the Lodge members.
The Lions Club in Wonthaggi has supported Fragile X Association for a number of years through fundraisers, and we thank them for their ongoing support!
Many Thanks to the organisers of ICAP Charity Day 2014! ICAP Charity Day in Australia donated $5,000 to Fragile X Association, specifically to be used to run Workhops and provide Clinic places. Thanks to this generous donation, we are able to co-sponsor Dr Marcia Braden’s visit to Australia in March. This annual international charity day, run by a global financial services business ICAP, has helped over 1,800 worthwhile causes worldwide. All commissions earned from trading deals on 3 December each year are donated to charities. In 2014 an astonishing $15 million was raised in this way, in support of charities around the world. Read more about their support of charities at www.icapcharityday.com or on facebook at ICAPCharityDay. Many thanks to Association member, Leigh Riddell, for introducing ICAP to Fragile X.
Workplace Giving - great way to support Fragile X Association Workplace Giving is an easy and effective way to donate regularly to the Association from pre-tax salary. Donating your pre-tax income makes every dollar count even more. For example, a $20 donation to Fragile X Association pre-tax costs the donor $13.70 after the automatic tax deduction. Fragile X Association, however, receives the full $20 (dependent on marginal tax rate). Some corporate organisations will also match the donations made by individual employees, doubling the impact of the business’ collective support. If you work for a corporate organisation or run your own business, Workplace Giving may be the perfect vehicle to raise funds to support the Association, and generate awareness of Fragile X. Is Workplace Giving is something you want to be a part of to make a difference?
s Contact Wendy and we can provide you with further information: wendy@fragilex.org.au or 1300 394 636 Page Page 5 5
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Counselling Janie Roberts is the Fragile X Association counsellor. Counselling offers empathetic listening, a non-judgmental attitude, a safe place to vent, and an opportunity to consider new insights and perspectives. Janie has experience with counselling in many areas that can affect families living with Fragile X, including anxiety, depression, isolation, grief and loss, finding balance, feelings of guilt, maintaining hope, relinquishing care, domestic violence and trauma, and changes in relationships. Janie encourages families, couples, siblings, and individuals to contact her for phone -based counselling support or face-to-face support (in the Sydney area). The counselling provided is free and confidential. Janie has a Master’s in Counselling and Psychotherapy. She 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 disabilities in day centres and schools.
Communication and Fragile X – Connecting and Respecting by Janie Roberts Our choice of words, body language and tone of voice can easily show whether we respect and value someone or not. People with Fragile X syndrome tend to have awareness and sensitivity around whether people accept and respect them and so I have put together some ideas around respectful communication with the help of some of the people I speak with.
What are some of the barriers to communication from the perspectives of people with Fragile X? Not being talked to directly Being spoken for rather than speaking for ourselves ● Being spoken to as if we are children or different in some way or hard of hearing ● Not being listened to ● Being aware of people just pretending to understand us ● ●
Issues that might make it more difficult for people with Fragile X to communicate effectively ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●
Undetected physical illness/pain Being used to telling people what they think they want to hear Experiences of social rejection Lack of motivation due to previous negative experiences Difficulty with memory and recall Over protection by others Under protection by others Past trauma Grief and loss Effects of institutionalisation Anxiety Depression Difficulty adapting to changed situations Difficulty making choices Practised at masking disability
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5 tips and strategies to make communication easier with people with Fragile X #1. Really listening ●
Listen for the meaning and the feelings and show that you are trying to understand. Ask open questions for more expansive meanings and closed questions for clarification. Check that you have the right understanding and try not to make assumptions.
“The most basic of all human needs is the need to understand and be understood. The best way to understand people is to listen to them.” - Ralph G. Nichols “When we focus on clarifying what is being observed, felt, needed, and wanted, rather than on diagnosing and judging, we discover the depth of our own compassion.” www.cnvc.org The Center for Non-Violent Communication) #2. Respect individual needs and make adjustments Some people may need more time to understand and respond to your communication. Be aware of the possible power imbalance and use your power to help others feel valued and significant. Ask people about their preferences about where to sit and interact. Environment can be very important. Stick to areas of interest for the person with Fragile X initially and build up trust and mutual respect from there. #3. Be flexible and creative ● ● ● ●
If verbal communication doesn’t work then do something else, there’s so much more to communication than talking. ● Use music, mime, dance, art, magazine cut outs to create stories, sensory equipment, visuals, cards, figurines, use of symbols, plain English text, large print text, externalising difficult subjects, videos, photographs, role play etc. ● Find ways of emphasising and celebrating the strengths and successes of people with Fragile X rather than their failures or perceived deficits (they may have had a lifetime of being defined in terms of their limitations and lack of abilities). ● Recognise attempts at communication, respond to them and create new opportunities for communication. ●
4. Involve other people in the lives of people with Fragile X Families, carers and support people will have important information on facilitating communication with the person with Fragile X. ● A community of support working with and for the person has a stronger voice than a single voice alone. ● Having that human connection also enables resilience to grow. ●
“It is very important to have connections to family, friends and /or groups of people. Connections to others keeps disability in its place”. - Roberts, Francis and Eastham. 5. Be practical ●
Use short sentences and plain language.
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Be aware of the difficulties around using metaphor for some people.
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Introduce one idea at a time.
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Use concrete not abstract concepts e.g., “time” can be a difficult one so maybe “before breakfast” or “after breakfast”.
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Minimise distractions.
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Ensure plenty of breaks for people with limited concentration.
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Reinforce important messages.
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Don’t expect people with Fragile X to tell their stories in a direct, linear way.
And finally… Communication is Connection “Too often we underestimate the power of a touch, a smile, a kind word, listening ear, an honest compliment, or the smallest act of caring, all of which have the potential to turn a life around.” ― Leo Buscaglia
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Fragile X Association - the year ahead 2015 has started with a bang! So many things are happening that it is hard to know where to start. It is going to be a very busy, and productive, year for Fragile X Association! First off, we have workshops and clinics in Melbourne and Sydney in March with Dr Marcia Braden. Marcia is an renowned expert on behaviours and learning strategies in Fragile X. Second, the Sydney Harbour Bridge to Manly Beach paddle event is on the 22 March and again Fragile X is the charity partner for the event. This is not only a fund-raiser but a great way to increase awareness of Fragile X. We thank local Manly business OceanPaddler and for the opportunity. Third, our medical awareness campaign is picking up speed and we are very thankful for Katrina Weir’s management of this initiative, which has been funded by a generous donor family. I am delighted to say that our Counsellor Janie Roberts is again available in the office for 3 days a week, thanks to a generous member family donation. Counselling is a key service. Finally, our Employment Inclusion Project, funded by BNP Paribas, is getting underway. More news about that in our next newsletter. I am delighted to again welcome our two new Board Members, Judith Lenart and Dr Pam Montgomery. They have different skills and each will contribute significantly to the work of our Association. We currently have Board representatives from Queensland, NSW, SA, VIC and WA and would like to maintain a good distribution into the future. Our Annual General meeting will be held in October this year, and Board members are appointed at that time. If anyone is thinking about joining the Board, and helping to steer our Association, I’d be delighted to discuss this with you. All the very best. Robyn Iredale, President, Fragile X Association
Anniversary of the 1965 Freedom Ride in NSW Never did I, in my wildest dreams, imagine that I would get to be part of such an exhilarating event as the 50th Anniversary of the original Freedom Ride! Fifty years ago, when I was a 20-year old Geography Honours student at Sydney University, I joined 28 other students in the Freedom Ride bus to protest against racism in some outback towns of NSW. We were led by the first Indigenous student to graduate from an Australian University, Charlie Perkins. What a wonderfully inspiring man he was and he changed many lives, including mine. Charlie, a proud Arrernte man from Central Australia, was articulate, passionate and determined to see change. He can best be summed up in a line in the new Troy Casser-Daley and Paul Kelly ‘Freedom Ride’ song that says about Charlie, ‘trouble is my middle name’! Sydney University decided to commemorate the original event with a re-enactment of the ride over 5 days, taking in Dubbo, Walgett, Moree, Bowraville and Kempsey. This time the bus was comfortable, 90 people including 29 current students went along, we had our own entertainment troupe (Troy and Paul) and all costs were covered. What a difference in the bus trip! But the most amazing difference was the changed attitude in many of the Indigenous and non-Indigenous people. The Aborigines came up, shook hands and said thank you—all the while with tears in their, and my, eyes. They talked of freedom constantly and reinforced this with stories of what life was like before 1965: they were not allowed to swim in town pools and had to sit on the floor at the front of cinema, no decent employment, poor education, dreadful living conditions on missions and reserves and ‘dog’ tags (earlier). Many of the non-Indigenous people in the towns have opened their hearts and minds to engage with and incorporate the original inhabitants into their community. Change is in the right direction but there is still a long way to go. Many elders pleaded with us to help fix the 3E’s: education, employment and engagement. Many young people are disengaged and one of the consequences is the widespread use of the drug ‘ice’ in Aboriginal communities (being distributed by bikie gangs and now being made in some communities). The 2015 bus trip has highlighted the inequities that still face Indigenous people in Australia and let’s hope that Sydney University keeps on the path it has set itself to make a real difference to the lives of Indigenous people. For myself, the Freedom Ride started me on a life of activism and research into social justice in various ways.
s Robyn Iredale - President, Fragile X Association Page Page 8 8
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Establishing Fragile X Hong Kong Is it normal to burst into tears at a moment’s notice? I (Helen) asked the week our son was diagnosed. I was speaking to a mother whose family is also affected by fragile X. Just like the snow storms that hit Boston, US that February, it felt like a blizzard was swirling inside my head. Those unspoken hopes and dreams I had for our son felt like they’d be blown away by the wind. How could there be hope after this sort of news? Well, talking with that family, and one other gave us hope in what was one of the toughest weeks of our family’s life so far. The next weekend we were having lunch with these two families. They introduced us to their children, answered our questions and just spent time with us telling their stories. One of the Dads later told Mike that they always make themselves available to newly diagnosed families, even if that means cancelling other plans. Not everyone wants to talk initially, but he believes that everyone should have the opportunity. And we agree. This February has been our 2nd anniversary since we were diagnosed while living in the US for study. Since that time we have moved back to Hong Kong and started Fragile X Hong Kong. In Hong Kong, we have encountered several perspectives in the medical and educational sector. Some health professionals think that parents in Hong Kong do not want to meet other parents. However, there are others that think attitudes are changing and that families do in fact want support. Fragile X is the most common inherited cause of intellectual disability worldwide. However, it is relatively unknown. Helen ran the Hong Kong Standard Charter half Marathon, and raised $2800 for setting up Fragile X HK.
Until now, Hong Kong did not, have a single clinic, parent group or non-profit focused on this condition. Two Hong Kong hospitals have started antenatal screening FX in the last two years. However, they did not have a plan for how to support the families post diagnosis.
About us: Mike & Helen Tozer have been working in the NGO sector Hong Kong for 11 years. We are originally from the UK (Mike) and Australia (Helen), with two children, Josiah (FM), 4 years, and his big sister, Hannah, aged 6, both made in Hong Kong. Since we were diagnosed 13 of Helen's extended members have been identified as premutation or full mutation.
FX Community Family Get Togethers in Melbourne are organised regularly by Bronwyn. Contact: Bronwyn@seanwyn.net In Perth, Shante Sweeney organises regular Get Togethers. sripper-sebbes@hotmail.com or on 0408 815 593 If you’re in Brisbane, get in touch with Candy Stingel, about any catchups: cozziejunior@gmail.com Our Fragile X Association of Australia fb page has posts every week with our news, links and shares. Fragile X facebook groups: The Fragile X Association of Australia Group is a great place to hear of FX family get togethers, as are the Australian state-based FX groups. There are various international Fragile X facebook pages and groups as well - a great way to meet people in the FX community. Page 9
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Raising Awareness of Fragile X within the Medical Community
Over the past several months, there has been considerable progress with medical communications projects and we have several activities taking place in the first half of the year. You might recall from the last fx info newsletter that the medical community communications officer role at the Fragile X Association was created specifically to raise awareness and understanding of Fragile X-associated Disorders among the medical community including general practitioners, medical specialists such as paediatricians and neurologists, professional bodies and allied health professionals including occupational therapists, speech pathologists, psychologists and special education teachers.
Katrina Weir
Ultimately, our objective is to ensure families affected by Fragile X-associated Disorders are being quickly and appropriately referred and accurately diagnosed. In the next six months, Fragile X is going to be making an appearance at several different professional conferences. We have Dr Lesley Powell, Educational Consultant (Children with Learning Disabilities) in Perth giving a presentation on Identification, Referral and Early Identification of Fragile X syndrome to the Maternal Child and Family Health Nurses conference in Perth in April. Cathy Love, OT and Board Member of the Association will deliver a 2-hour workshop at the Occupational Therapy Australia Disability Symposium in Townsville at the end of May. We will also have a presence at the Early Childhood Intervention Australia (NSW Chapter) conference in Sydney – definitely some information in the delegates’ satchels and possibly a display stand so we can educate early childhood teachers about Fragile X syndrome and signs to look for. Fragile X syndrome will also be profiled at the Neurodevelopmental Behavioural Paediatric Society of Australasia at The Menzies hotel in Sydney in August, which will attract 350 delegates including paediatricians from Australia, NZ , Singapore and Hong Kong, and allied health, nurses and educators. Aside from material about Fragile X presented in the conference program, we have the have the opportunity to have banners, information in delegates’ satchels and an information stand to further educate child development practitioners about Fragile X. And finally, HealthEd, a series of one-day GP Education programs running in each major capital city around Australia from August through to November. We have secured a speaking opportunity at each of the meetings that will focus on intellectual disability, including Fragile X syndrome, and autism. The session will be specific to GPs and their role in the referral and ongoing management of children with Fragile X syndrome and their families. We have also been busy writing articles about Fragile X-associated Disorders for various publications and newsletters and where possible, we have included a personal story from one of our member families. Articles have appeared in SourceKids, an online newsletter for families of children with special needs, the Genetic Alliance Australia newsletter (formerly AGSA, Association of Genetic Support of Australasia) and the GaRDN (WA Genetics and Rare Diseases Network) e-newsletter. In April, the Genetics Support Network Victoria (GSNV) will feature a story about Fragile X-associated Disorders. Personal stories from families living with Fragile X syndrome are a powerful way to share understanding of Fragile X and increase awareness. We’d like to thank Rachael Clements, Rachael Bressington, Cynthia Roberts, Sarah Jones, Michelle Romanski and Mike & Helen Tozer for sharing their stories. If you’re interested in sharing your personal family story, please contact wendy@fragilex.org.au or call 1 300 394 636. Throughout 2015, we will start to focus on major teaching hospitals and exploring opportunities for Fragile X Association of Australia to recommend speakers with expertise in Fragile X-associated Disorders such as FXTAS to present to medical and allied health professionals. We will also explore additional conference opportunities and make sure we leverage Dr Marcia Braden’s visit to Australia .
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Research Matters: New Findings from Australian Study of Fragile X Carrier Women This study, which was funded by the Australian Research Council, was conducted between 2012 and 2013 at Monash University. In order to recruit participants for this study, we worked in collaboration with the Fragile X Alliance, Fragile X Association of Australia, Genetic Health Services Victoria and the Murdoch Children’s Research Institute. We are pleased to report that this research was extremely successful and has paved the way towards better recognition and understanding of psychological problems that exist in some ‘carrier’ women. We will use this information to develop better targeted treatments, support and resources for Australian families impacted by the Fragile X gene. The primary aim of this study was to capture information about decision-making skills, movement coordination and mental health (e.g., anxiety, depression) in ‘carrier’ women. We sincerely thank each and every one of the 70 participants for giving up their time to help out with this study. As a result of this generosity we now have a rich dataset of information that has already resulted in 9 publications in peer reviewed journals and 9 professional presentations. Furthermore, Dr Claudine Kraan would like to extend a special thank you to everyone that was involved in this research. Her PhD was submitted last year and won the Best Thesis Award through the Monash University School of Psychological Sciences and a highly competitive Bridging Fellowship. Claudine plans to continue this research in her new role as a post-doctoral research fellow at Monash University. The purpose of this article is to provide you with a summary of the main results of this study, presented below. 1. Emerging evidence for a cognitive-affective syndrome in ‘carrier’ women. a. We found elevated symptoms of social anxiety, attention deficit hyperactivity disorder (the inattentive type) and depression in some of the carrier women that participated in this study. b. Poor executive function was strongly related to self-reported symptoms of these psychological disorders. Executive function is term used in psychology to explain the mental processes that allow people to hold and manipulate thoughts in their mind. It is also important for controlling impulsive behavior and distractibility. c. There was no relationship between the above mentioned psychological symptoms and CGG repeat length. Alternatively, we found strong evidence for a relationship between another region on the gene and symptoms of psychological disorders and executive dysfunction. d. Not all carrier women showed these genetic changes or symptoms. We would now like to find out why some women are developing psychological symptoms and some are not. 2. Subtle changes in movement coordination a. Some ‘carrier’ women had signs of irregular walking patterns and poor balance control. These problems were subtle and are not likely to significantly impact life quality. b. A small part of the brain located in the back of the head called the cerebellum might be involved in these subtle changes. This finding is important because it aligns with previous research suggesting relationships between the gene involved in fragile X syndrome and the cerebellum. c. We found that walking patterns and balance control significantly related to CGG repeat length. This suggests that subtle changes in movement coordination are likely to be related to a different part of the fragile X gene than the above mentioned psychological problems. d. More work is certainly needed to tease apart differences between these two emerging profiles. In summary, we think we have detected two pathways in ‘carrier’ women. The first appears to be developmental and related to cognitive-affective difficulties, such as social anxiety and depression. The second is less well understood. It related to molecular events evident in the upper CGG repeat range and might act in conjunction with environmental factors. We need to understand what happens in women with cognitive-affective symptoms and subtle change in motor coordination over time. This will help us to identify the women that would benefit most from treatments, when they are made available. Importantly, we now have a better understanding of the complex problems faced by ‘carrier’ women across the early to late adult years. In conjunction with families and health practitioners in Australia we would next like to facilitate a better awareness of disorders found in ‘carrier’ women so that those that are affected and in need of help can receive an earlier diagnosis and benefit from targeted treatment. We sincerely thank all participants for providing their valuable time. Warm regards, Professor Kim Cornish and Dr Claudine Kraan
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Fragile X Association ‘Wears Colours’ for World Autism Day Although they are two separate conditions, as many of you will know, there are links between Fragile X syndrome and autism. It is very common for children with Fragile X syndrome to display signs of autism such as hand flapping, repetitive behaviours, difficulty with eye contact and limited social interaction. Research suggests that between 15-33% of children with Fragile X syndrome are also on the autism spectrum, but anecdotally, this could be as high as 50%. Conversely, around 5% of children with autism will have an additional diagnosis of Fragile X syndrome. Although both are lifelong conditions without a cure, they are also very different. Fragile X syndrome is an inherited genetic disorder characterised by intellectual disability and diagnosed by a blood test whereas autism is a behavioural diagnosis and currently, there is no medical test to confirm the diagnosis. Early diagnosis and intervention with a range of therapeutic and educational programs have shown to be beneficial for helping children with both conditions reach their full potential. Given the high number of children with Fragile X who share features of autism, the Fragile X Association has been working with Aspect, the leading provider of services for people with autism in Australia, to identify services and events that can be accessed by Fragile X families. Aspect offers a range of therapy services, behaviour support programs and services for children and adults living with autism that might also be beneficial for people living with Fragile X syndrome. For further information, visit www.autismspectrum.org.au or call 1 800 ASPECT (1 800 277 328). World Autism Day is being celebrated on Thursday 2nd April and Aspect welcomes all people with Fragile X syndrome and their families to join in the fun. Melissa Wilton, communications manager at Aspect, has provided the following information to showcase Aspect’s World Autism Day events and to encourage participation from Fragile X Association members & supporters: Help us to ‘go colourful’ this World Autism Awareness Day! We’re celebrating the spectrum with colour – wear your brightest colours, pin on your badges (available at www.autismspectrum.org.au/products) and help us to raise awareness and understanding of autism. For those in Sydney, we have a special ‘Go colourful’ event in Hyde Park from 7:30-9:30am on Thursday 2 April. There’ll be music, balloons, manicures, a selfie-wall and more! For more info contact comms@aspect.org.au or follow Aspect at www.facebook.com/AutismSpectrumAustralia
Aspect ‘drops the d from ASD’ to promote positive language around autism Aspect embraces language as a tool for social change by dropping the word ‘disorder’ Aspect has set out to provide positive messaging about autism with its latest campaign, ‘drop the d from ASD’. As part of the campaign, Aspect has removed the word ‘disorder’ from autism spectrum disorder (ASD) in its communications, in response to growing feedback from the autism community that the term is experienced as negative and restrictive. From now on Aspect will refer to people with autism or people on the autism spectrum. While awareness of autism within Australia is slowly improving, acceptance and understanding remains a challenge for individuals on the spectrum and their families. Defining people by their disability often isolates or segregates individuals. It focuses on the disability, not the person. It can create stigma in the community and can lead to many outcomes, including delayed diagnosis. Language is a powerful instrument in forming attitudes and beliefs. It not only reflects society’s perceptions, but also determines and prescribes them. By eliminating negative language and moving community attention away from ‘disorder,’ we can better understand, celebrate and empower those on the autism spectrum and their families.” Source: www.autismspectrum.org.au Page 12
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Family Stories
Micah’s Story Micah was diagnosed with Fragile X syndrome in 2011 aged two. It was during a routine six month check with the infant welfare nurse that concerns were first raised that Micah was not meeting his developmental milestones. Poor eye contact triggered the Bressingtons’ referral to a series of allied health professionals for early intervention including physio, OT and speech therapy. According to mum Rachael, Micah always reached his developmental milestones, but he did so in his own time. Before Micah’s diagnosis, his parents Rachael and Emiel had never heard of Fragile X syndrome. Although they knew something was ‘not quite right’, researching information about Fragile X syndrome was scary and worrying, and waiting for the results of the blood test was particularly difficult. The Bressingtons received a confirmed diagnosis of Fragile X syndrome with mixed feelings. On the one hand, it was a relief to have a diagnosis and to realise that there would be help and support available, but on the other, it was very disappointing for Rachael who had waited many years to marry and have a child. Following the diagnosis, the family was referred to a genetics service for counselling and further testing that revealed a minor deletion on Micah’s FMR1 gene. After many months, Rachael’s DNA test confirmed that she has mosaic fragile X and is therefore the genetic carrier. Since then, Rachael and Emiel have gone on to have a second child Ruth who is now two years old. The genetics counsellor is keen to meet Ruth once she turns three but Rachael is very happy with her development and has ‘no concerns’ that she may also have Fragile X syndrome. According to Rachael, she has a wonderful support system of family and friends, a positive attitude and a strong Christian faith which particularly helps her during the difficult times . She and Emiel also have the support of a fantastic team of educators and allied health professionals. Micah now attends Holland Street special school in Geraldton where he has gone from strength to strength. He was the only kindergarten student at the school in 2014 and thrived under the care of a wonderful teacher. His speech development accelerated during the year and Rachael says that now his speech has taken off, he hasn’t looked back! This year he will attend pre-primary. Like most five year olds, Micah is energetic and loves anything that moves or makes a noise. He particularly loves his trampoline which was purchased from his BetterStart funding package but also loves water, books, balls and his bike – and he can now almost ride by himself. Every family’s experience raising a child with Fragile X syndrome is likely to be different but when asked what advice she would offer, she replied: “Stay positive and never limit your child in any way. Encourage your child to grow to their full potential and remember you are never alone; there is a whole lot of support out there.” FX Family Stories Thank you Rachael & Emiel for sharing Micah’s Story. Micah’s story is a part of a series of family storeis posted on our website www.fragilex.org.au and our Facebook page www.facebook.com/fxAus If you’d like to share your story, let us know: wendy@fragilex.org.au Page 13
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The Bressington family: Emiel and Rachael, Micah and Ruth
Fragile X Association of Australia
Fragile X Association of Australia
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If we can help with anything please get in touch: 1300 394 636 or 02 9977 0074 support@fragilex.org.au
Iron-on to anything! Perfect for events and fundraisers Free from support@fragilex.org.au
Team FX !
Sunday August 9 2015
On again in September!
Gala FX Dinner in Melbourne August 1st! For details contact 1300 394 636 or support@fragilex.org.au
Jeremy and Shante Sweeney, together with Kirra ten Hove-Smith, are organising a fabulous Winter Gala Dinner in Perth on Saturday 11 July for Fragile X Association. Great art works, a silent auction, and more!
Tickets available now Check out the Winter Gala WA FX facebook page: wintergala2015 Or contact Shante for ticket details: sripper-sebbes@hotmail.com Page Page 14 14
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It’s on again!
Iconic Sydney Ocean Paddling Race Takes Fragile X as Charity Partner....... With the race finish line just about across the road from our office! The Manly Wharf Bridge to Beach is one of Australia’s largest open water paddling events and is regarded as one of the most spectacular in the world! Participants marshal at Blues Point Reserve for a spectacular sunrise over Sydney Harbour before lining up directly underneath the Sydney Harbour Bridge at the start line of the race. They then paddle past the Sydney Opera House and hug the northern shores of Sydney Harbour, taking in sights such as Taronga Zoo, Bradley’sHead, Clifton Gardens, North Harbour Reserve and both South and North Heads - on their way to the finish line at Manly Wharf - just across the road from the Fragile X office. Fragile X Association has been based in the Manly area for around 25 years. We’re proud to be Oceanpaddler’s charity partner for the iconic Bridge to Beach race. We’re proud to be sponsored by the paddling community, and we’d also like to thank the local businesses who have supported donated prizes for our fundraisers!
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