FX INFO MARCH 2016
1300 394 636 (free call)
In this edition
New Clinic Fragile X Premutation Carrier Clinic with focus on FXTAS
Research Matters * Fragile X newborn screening grant * Research papers on testing and screening * FREE FX Study
FX Achievement Award Winners
Welcome Amanda: Fragile X Family Support I am very pleased to have started in the Family Support role and look forward to getting to know the Fragile X community members and their families over the coming months. I’ll continue Janie’s role, offering counselling and support to families, couples, siblings and individuals affected by Fragile X. Contact me on amanda@fragilex.org.au or 1300 394 636 Page 1
March 2016
Fragile X Association of Australia
From the President Dear Members and Friends, We have had an exciting start to 2016 with the Oceanpaddler event, from Sydney Harbour Bridge to Manly Harbour Beach in February. It is an 11 kilometre race and attracts the world’s best paddlers. We again got the opportunity to partner with Oceanpaddler and we raised $3,000. More importantly, however, we distributed hundreds of brochures and alerted the participants and their supporters to the prevalence and impact of Fragile X syndrome and FX-associated Disorders. A special thank you to Luke Ratcliff, my son-in-law for paddling for us and raising $1,200. The proposal to establish a Fragile X premutation family clinic put forward by the Cunningham family, generous donors to our Association, culminated in the opening of a clinic at St Vincent’s Hospital in Sydney on 29 February. The clinic, with movement disorder specialists and others and will be held on the last Monday of each month. It is the first clinic in Australia for FX carriers and will be available for people to seek advice and help in relation to FXTAS and other carrier issues. We are all intensely grateful to the Cunningham family for proposing and funding this clinic and to Randi and Paul Hagerman for promoting the concept of a clinic when they were here last year. See page 7 for more information. You will remember that last year we developed a video called Working with Fragile X that features five of our young adults, and profiles the need for inclusion in employment. The video is available on our youtube channel, which is linked from our website. This is a really informative perspective on the challenges faced in seeking mainstream work. Please bring the video to the attention of any employment agencies, employers and carers you are connected with. The Board has been focussed on putting together a strategy for the period 2016-2019 to deal with the changing environment that we find ourselves in. I hope that everyone is keeping up with the NDIS implementation and how it will affect their family. We have had some changes to the Board: we welcomed Nyleta McRae, a FX parent in Queensland and social media/ IT expert, in late 2015, and we were recently joined by a new member from Melbourne, Shane Mansfield, also a FX parent and project manager. This renewal is very pleasing and we look forward to their contributions. At the time of our Annual General Meeting in October, two Board positions will become vacant with my retirement from the Board, and the retirement of Bruce Donald, also a long-serving Board member. Please get in touch if you are interested in joining the Board. We currently have directors from Victoria, Queensland and New South Wales, and would welcome directors from other states. In February we farewelled our counsellor Janie Roberts, after four years with the Association. Janie’s expertise, and her empathy was highly valued, and she has been sadly missed by many of our member families. We have recently welcomed Amanda Rummery-Hoy, who is taking over from Janie in the Family Support role as counsellor, which is such an important part of the Association’s role. Amanda is looking forward to meeting everyone connected with the Association. I would like to thank our supporters & fundraisers very sincerely for their continued efforts to increase awareness of Fragile X, and to raise funds for the Association. The Association receives no public funding and so fundraising is an important way to support our continued work. This year Masonicare has worked with the Galston Garden Club in Sydney to raise $6,000. Two outstanding fundraising efforts by our members: Leigh Riddell is taking part in the 100mile Prudential Race in London and Mike Tozer will be running the Sydney Half Marathon in May - in a suit! determined to break a Guinness world record. I look forward to your active involvement in the Association this coming year. Warm regards, Robyn
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March 2016
Fragile X Association of Australia
our supporters
Well, it was brilliant weather for the iconic annual Bridge to Beach paddle race! 11km across Sydney Harbour from Blues Point, under the bridge, across to Manly. The finish point being just across the road from the Fragile X office. Finish line! Robyn Iredale, Luke Ratcliff, with Mrs Jean Hay, Mayor of Manly
Congratulations to everyone who paddled for Fragile X, raising a fantastic $3,000. Well done to Luke Ratcliff, chief fundraiser and paddler in chief, again! Many thanks to Dean, Sherene, Yanda and the rest of the team at Oceanpaddler for taking us on as charity partner for the third year. And thank you to the sponsors who provided “lucky dip� prizes for some of the paddlers:
Paddling for Fragile X - 3rd year in a row !
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March 2016
Fragile X Association of Australia
Many thanks to Trish and Graham Piper, long-term members, for asking the Garden Club and Masonicare to support Fragile X through their annual Open Gardens event again. Earlier this year, a cheque for $6,000 was presented to Fragile X - a very substantial donation. Mark Sutherland-Harris, President of the Galston Garden Club Robyn Iredale , President of Fragile X Association Peter Goodridge, Worshipful Master of Lodge Ku-ring-gai presenting cheque Graham Piper, Past Master Lodge Ku-ring-gai And Life Member Galston Garden Club Brian Samson, Immediate Past Master Lodge Ku-ring-gai
It's really happening. One man. One suit. 21.1 kilometres. Sub 1 hour 18 goal. On May 15th Mike Tozer will be lining up at the start line of the Sydney Morning Herald half marathon aiming to take on a Guinness world record: the fastest half marathon in a suit. Mike says: “I'm doing it to raise awareness for fragile X syndrome. My son has this condition and I daily get to watch the joys and the challenges that come from fragile X. This condition means having just one missing protein, which is vital for brain development. This one protein holds him and others back in a way that doesn't seem fair. In a similar but much lesser degree, my suit will hold me back and be a constant reminder throughout the race. Another record breaker spoke of the cognitive dissonance of this record; of wanting to take off the suit jacket but then reminding himself of needing to keep it on to meet the record rules. This idea of cognitive dissonance made me think of the parallels of what I've read of the neurology of fragile X syndrome. Coupled with the fact that the record is just within my reach (2 minutes off my personal best) inspired me to give it a try. Am excited that lots of people are getting behind this attempt, including friends, sponsors and media in Sydney and in Hong Kong. The record was broken in March in New York at 1 hr 18'40", so I'm going to need this whole team behind me to hit the goal. As well as awareness raising I'm also fundraising for the Fragile X Association of Australia. This is the first time I've fundraised for them and am excited to be helping raise much needed funds to support their work.� You can support Mike’s effort by making a tax-deductible donation: Page 4
March 2016
http://bit.ly/1YqNOVm Fragile X Association of Australia
Vale Leonie Star
It is terribly sad to report to our members that our former President Leonie Star succumbed to cancer and died in January, just months after her daughter Naomi, also a former President of Fragile X Association, died of cancer. Our hearts go out to Leonie’s surviving daughter Adrienne, and Naomi’s husband Chad Wackerman and Leonie’s grandchildren, James and Sophia, for this devastating and compounded loss. Leonie was a truly outstanding person who assumed the role of President in 2004 when Naomi moved to the USA. Naomi’s work as President was acknowledged in the December issue of our newsletter. (on our website)
Dr Leonie Star Leonie came to the role of Fragile X Association President as a distinguished academic, lawyer and writer having been a former Principal of Women’s College within the University of Sydney. She covered a wide field. Her PhD dissertation had been on Elizabethan theatre and as a lawyer she ranged from the biography of Julius Stone, Australia’s leading jurisprudence scholar, to works on the Dead Sea Scrolls, the history of the Family Court and her recent mediaeval history, ‘England's Ethnic Cleansing of the Jews’ . This was an impressive work which I was privileged to review for the NSW Law Society Journal. But along that learned way she even found time to write the Consumers’ Guide to Hip Replacement! Her FX family story was so familiar. Her former husband had, unbeknown, been the FX carrier so both her daughters, also unbeknown, were carriers. When Naomi and Chad’s son James was born as a child fully affected by Fragile X, Leonie embraced this now revealed dimension of her family with complete commitment. With typical Jewish humour she once quipped to me that Jewish grandmothers are meant to have brain surgeons for grandsons; for Leonie her love for her FX family far transcended such stereotypes. As Adrienne said in her eulogy, Leonie lived by her often repeated conviction:- ‘Family is of the upmost importance, nothing else really means anything.’ Leonie served as President until John Kelleher took over in 2005 when ill health meant she could not continue. Those were still the days of meetings at the kitchen table as there was no office for FXAA. Leonie’s kitchen and its lunches were a delight, as Doug Rodgers (former Treasurer) and John Kelleher both recall. Doug recounts that Leonie made a very valuable contribution, throwing herself fully into her role with an emphasis on ensuring that the Association did everything in a professional manner. First, she established appropriate procedures for the administration of the Association's multi-disciplinary clinics for children and adults. She set up proper record keeping and reporting as well as follow up to ensure the whole process met families’ needs. The second area of major input was to establish a library of Fragile X resources for the Association. And for the next decade she remained an active member and promoter of FXAA. It was her close friendship with Zena Sachs that brought our largest bequest to the FXAA Endowment Fund. I was so fortunate to have enjoyed Leonie’s friendship if only for a few years. FXAA is the beneficiary of her legacy, together with Naomi’s, of being part of the building of a family based support organisation which reaches out to the medical and research community as well as government to raise commitment to addressing the needs of FX people. Thank you so much Leonie on behalf of the whole FX community. Bruce Donald, Treasurer Page 5
March 2016
Fragile X Association of Australia
Increasing Awareness of Fragile X within the Medical Community This year’s focus: Building External Partnerships One of the strategic areas of focus for the Fragile X medical communications project in 2016 is to build new relationships and strengthen existing ones with other organisations where there is an overlap in the objectives of our work. In my role as medical communications officer, my main objective is to raise awareness and understanding of fragile x syndrome and its associated disorders among the medical community including GPs and selected specialists such as neurologists (FXTAS) and fertility specialists (FXPOI).
Katrina Weir
However, these doctors’ professional associations, other independent training providers and non-government organisations such as Jean Hailes are also charged with educating their members about relevant health issues so FXAA is looking to partner with as many of these organisations as possible to help us spread the word and gain some critical mass in our communications efforts. The year so far has been spent laying the ground work with several of these organisations to make this happen. In April, Professor Bill Ledger, senior fertility specialist and Head and Professor of the Discipline of Obstetrics & Gynaecology in the School of Women's & Children's Health at the Royal Hospital for Women will host an event on behalf of Fragile X Association of Australia. Professor Ledger will act as MC and introduce Professor Ted Brown, Director, New York State Institute for Basic Research in Developmental Disabilities who will speak on The Fragile X Syndrome: Clinical aspects and recent research. Professor Brown is a leading researcher in autism and Fragile X, and is developing an alternative method for diagnosing fragile x syndrome in children. Professor Ledger is inviting clinical and research colleagues from UNSW, Royal Hospital for Women, Sydney Children’s Hospital and the Garvan Institute of Medical Research to the event. We are also working to secure external funding so that we can partner with a GP education provider to develop an online training module for GPs focussing on fragile x syndrome, specifically the need for early diagnosis and the GPs role in managing the multiple needs of people with the condition. This is a particularly exciting project as GPs are increasingly time poor and turning to online education to remain current and to complete their annual continuing professional education requirements. If we are successful in obtaining funding for this project, we expect it will be up and running in the second half of the year. We have approached an organisation focussed on women’s health with a proposal to jointly host a webinar focussed on FXPOI that ideally would be hosted on their website and accessible for doctors, including GPs, interested in fertility and early menopause. This is part of our strategy to raise awareness of the Fragile X-associated Disorders that can affect carriers. As in 2015, throughout this year, we will continue to identify conferences where FXAA can have a presence either with a speaking opportunity or some other sponsorship opportunity such as providing information resources in delegates’ satchels. We are hoping that in September FXAA board member, Cathy Love, will present at the Early Childhood Intervention Australia national conference being held in Melbourne. She has submitted an abstract titled Fragile: Handle with Care - Supporting parents affected by Fragile X Syndrome throughout Early Intervention and we hope to hear shortly whether it has been accepted. Around Australia, there are 31 Primary Health Networks (previously known as Medicare Locals) which are funded by the Federal Government and on top of their role “to improve coordination of care to ensure patients receive the right care in the right place at the right time”, have an ongoing role in continuing medical education. We will be approaching several of the Primary Health Networks over the next couple of months to discuss their health priorities and possible opportunities for FXAA to contribute to education events with a focus on fragile x syndrome. Other areas of activity include continuing to work with our members to write personal stories about their children and other family members to highlight some of the wonderful achievements of people living with Fragile X syndrome. We are able to share these stories on our facebook page and website, and they are always very well received by readers. Please let Wendy (support@fragilex.org.au) know if you have a story that you are keen to share.
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March 2016
Fragile X Association of Australia
We are also making the most of several interesting pieces of research that have been published recently and looking at ways to communicate these findings to our members, the broader fragile x community and our medical targets. Page 12 of this newsletter includes a summary of two articles that have just been published by our Victorian colleagues including Dr Jonathan Cohen from Fragile X Alliance Inc. and Professor Sylvia Metcalfe from MCRI, both members of FXAA’s Science and Research Committee. Finally, we are working to update the information about Fragile X syndrome published on some of the main government health information websites such as BetterHealth and mydr.com.au. In some cases, it has been several years since the information has been reviewed and updated.
New Clinic with Focus on FXTAS Premutation Carrier Family FXTAS Clinic: at St Vincent’s Hospital in Sydney The first ever FXTAS clinic in Australia was held in February this year under the auspices of the movement disorders clinic at St Vincent’s Hospital in Sydney. Made possible by the generous support of the Cunningham family, the monthly clinic, with a focus on FXTAS, is being run by neurologists Dr Sam Bolitho and Associate Professor Stephen Tisch. It is a dedicated service for carriers of Fragile X and their families. The clinic will run on the last Monday of each month (with alternative dates when the clinic falls on a public holiday). It is open to carriers of Fragile X and their families from around Australia, even if the family has signs of or concerns about FXTAS but no formal diagnosis. There is no cost associated with attending the clinic and the only administrative requirement is a GP referral. Patients attending the clinic can expect a minimum one hour consultation with Dr Bolitho with input from A/ Professor Tisch. When attending the clinic, it is important to take the results of any genetic testing and other investigations, eg scanning, as well as a thorough understanding of family history including parents and grandparents. At present, Fragile X Association is acting as a secretariat for the clinic by liaising with potential families from our member base and coordinating scheduling arrangements directly with the clinic. Please contact us on 1300 394 636 or email support@fragilex.org.au with any questions or if you would like further information about the clinic. Clinic dates for 2016: 2 May (April clinic), 30 May, 27 June, 25 July, 29 Aug, 26 Sept, 31 Oct, 28 November
‘The Carriers’ The X-Factor in Infertility and Neurological Health There was a very good article in the Scientific American MIND journal in March 2016 about Fragile X premutation carriers by Anne Skomorowsky from the Columbia University Medical Centre (pp. 35-41). The article discusses FXTAS and FXPOI, along with other carrier issues that sometimes occur. Because there are these conditions with potential association with the FX premutation, there is a move at the international level to describe the condition as ‘new’. In the article Daniel Navon from the University of California (San Diego) says ‘our understanding of the fragile x premutation has changed from its being seen as simply a “carrier” gene, to a gene that confers a high risk of two adult-onset conditions, and now to a common, generally mild genetic condition that manifests from infancy’ (p.41). This is an important scientific development and it could change a number of perceptions. If you’re interested in reading a copy of the article, contact the Fragile X office for details. It’s also available on the Scientific American website for purchase: http://www.scientificamerican.com/article/the-x-factor-in-infertility-and-neurological-health/ Page 7
March 2016
Fragile X Association of Australia
FX Achievement Award 2015: Isaac Congratulations to Isaac Smith, winner of an Award in 2015
ZooYouth program: opportunity to volunteer with animals An inquiry about a school holiday program for Zoo Members at Adelaide Zoo resulted in Isaac Smith joining ZooYouth, a program for up to 60 youth volunteers who work one Saturday a month at the zoo. As a member of the ZooYouth program, Isaac is involved in a wide range of activities including preparing enclosures for the animals to return to after hours, food preparation, learning about conservation and the environment, and even shovelling poo. However, according to his mother Sue, it is the hands-on tasks that really capture his interest, particularly those that directly involve animals. “Being part of ZooYouth has exposed Isaac to so many aspects of life at the zoo. Aside from the physical tasks which he enjoys, he has had some other very special experiences. He has hand fed a giant tortoise and giraffe, and has been standing in an open plain with bison very close by. Isaac has even witnessed a procedure on a yellow footed rock wallaby and the treatment of other animals who have been rescued following bush fires in South Australia”, said Sue. Isaac is 16 years old and was diagnosed with Fragile X syndrome when he was two. He has always had a strong However, coincidentally, the Zoo Volunteer Program Officer, who is employed by the zoo to run the ZooYouth program, does have a background in disability and was very supportive of Isaac joining the program with support from his mother. “After several conversations with the Program Officer, they agreed for me to support Isaac and attend the ZooYouth sessions with him which is wonderful because as far as I know, there has not been a supported member in the program before. “The volunteers who run the program seek guidance from me on how best to engage Isaac and on which activities are likely to suit him the best. Although they give him more flexibility than they give some of the other members of the program, they are accepting of his challenges, encouraging of his efforts and rewarding of his successes”, Sue explained. According to his mother, there are so many benefits to Isaac being a part of the ZooYouth program such as working as a team to achieve a common goal, social interaction with a wide range of adults and socialising with a new and different peer group, not to mention the skills he is learning from being in a hands-on environment. “But what I am most proud of is that on most occasions, Isaac has risen to accept the numerous challenges that have confronted him while participating in this program. “I have always worked on the theory that I never want to look back and wish that Isaac had been more involved in different activities. What I’ve learnt is that it is easier to lower the bar than it is to raise it. Give your children opportunities to meet their potential, they may just surprise you, just as Isaac keeps on doing”, says Sue proudly.
Unfortunately the ZooYouth program is not continuing in its current form and will no longer be able to accommodate Isaac’s needs. However, Sue is currently negotiating an alternative way for Isaac to remain involved with the zoo as a volunteer so that he can further develop his skills and continue to expand his knowledge. Page 8
March 2016
Fragile X Association of Australia
FX Achievement Award 2015: Alex Living proof that you’re never too old to learn! Alex McBride is a 25 year old man living with Fragile X syndrome. His mother Sue nominated him for a Fragile X Association Achievement Award in 2015 in recognition of his hard work and persistence in controlling his behaviour and building his independence. Alex’s efforts have paid off with him now being able to walk to the local shops alone, check out and pay for items at the supermarket and order his own food in cafes and food courts. Before last year, Alex had never left the house alone.
For many people, these may sound like straight forward activities but for people with Fragile X syndrome, many of whom live with severe anxiety, tasks such as these can be particularly challenging. According to Alex’s mum Sue, anxiety has always been a major issue for Alex and she is incredibly proud of the work that he has done in learning to manage this himself. “Alex has learnt to use calming techniques such as breathing exercises and positive thinking to manage his anxiety. He also uses devices that are loaded with music, meditation and visualisation tracks and his favourite TV shows which he can use when he recognises his anxiety increasing and he needs to escape”, explained Sue. Most significantly, Alex is now able to recognise when his anxiety levels are rising and take steps to prevent it becoming too bad. This is a major breakthrough as severe and unmanaged anxiety can turn to panic in a heartbeat. For four days a week, Alex attends a day centre using the fifth day for reading lessons and therapy including some OT to work on fine and gross motor skills, and more recently, monthly psychology sessions. During these sessions, Alex talks about issues that are bothering him and the psychologist offers various coping strategies and at the same time, encourages him to try new things. “Since he has been working with the psychologist, Alex has agreed to participate in a number of activities, ones which he has been rejecting for the past 3 years,” said a delighted Sue. “He now enjoys swimming and bowling, and at home, is making great strides with his reading. “He reads newspapers, websites of interest, TV guides and recipes. Cooking is a major interest and he uses the food processor we gave him for Christmas every day”, she said. As a child, Alex’s parents never forced him to face his fears as a technique to combat anxiety because this just caused extreme anxiety and inappropriate behaviour. They figured he would tackle new tasks and activities, with help and encouragement when ready. Now, at age 25, that philosophy has paid dividends as Alex is learning and achieving new things, including practical skills and strategies to help him manage and enjoy his life It’s a wonderful reminder for us all; you’re never too old to learn.
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March 2016
Fragile X Association of Australia
Marty Campbell’s Experience with Job Agencies 2013-16 by Robyn Iredale I have written this article to give other people an idea of the process involved in finally getting a job for my son Marty. It was a long, tortuous process for Marty that eventually had a good outcome. Marty left his long-term factory job in September 2013 and we spent 14 months going to various job agencies in northern Sydney. All attempts at finding a job were unsuccessful and I then started asking people who had work who they were registered with. They all came up with Jobsupport, an agency with branches in 13 locations across Australia (http://jobsupport.org.au/main/). In November/December 2014, I contacted Jobsupport and supplied a lot of material (IQ score, completed a long questionnaire, etc). We had out first meeting in late January to discuss his needs/skills. They did not want to see his cv but took a copy anyhow – I thought this was strange. In February Marty had an unsatisfactory work trial in one of their offices. He was asked do to office tasks and take the coffee orders for the staff – he refused to do the latter. Jobsupport then suggested that he go through a .‘Transition to Work’ Program. I was unwilling to accept this; after 20 years of working I thought this was an insult and it would make Marty very annoyed. Luckily another Jobsupport employee at the meeting had just been awarded money from the state government disability department to conduct a new Work Experience program for older workers. Marty and I were accompanied by Janie Roberts, FXAA’s former Counsellor and Janie reinforced that Marty is a 43-yr old independent man and needs to be treated accordingly. Marty then undertook 2 work trials at Coles and Harris Farm. The second trial did not work out as Marty did not like the tasks assigned to him – sweeping, mopping floors, etc. I had told Jobsupport that he did not like cleaning. After much discussion Marty was offered two options for a work experience placement: Coles and Woolworths. In July he selected Woolworths and was very happy with the process. He was required to complete the Woolworths online Induction Process – which he did with help. The first work trainer that he then had from Jobsupport did not fully understand him. I explained the level of emotional response that people with FX have and that they reach an overloaded state much more quickly than others. I wrote to them and after a few more hiccups Marty was allocated a male trainer. Marty worked 2 days per week in September and then increased to 3 days/week in October. The trainer was a very good communicator and had a good manner for dealing with Marty. When I realised that there was a rating sheet that he was being assessed against, I asked to see it. In the name of transparency, I wanted to know how he was being assessed. I also wanted to be able to discuss it with him. A blank one was sent home. After six months, in December 2015, Marty became a permanent, part-time (20 hours per week) employee at Woolworths, Dee Why. He is very happy with his job and loves going to work each day. The staff are fantastic – well trained and cognisant of his situation. We could not ask for a better placement as it is quiet, friendly and very supportive. Jobsupport continue to provide weekly support and this will drop back to monthly in time. In the end, they have worked out how to treat an older, more experienced worker who has his own mind but who is malleable!
In the Working with Fragile X video, on our youtube channel, Marty talks about the challenges he faced in securing employment. https://youtu.be/xHicx0XNTAQ Page 10
March 2016
Fragile X Association of Australia
Tips for finding open employment: 1.
Ask people in open employment which disability employment services agency they are registered with.
2.
If you don’t know who to ask look at the rating of agencies at: http://www.jobsupport.org.au/main/images/documents/Star%20Ratings%20Update%20Nov%202015.pdf
3.
Choose an agency that has very strong, existing links with employers – don’t go to one that asks the client to email employers themselves or who has few connections with employers.
4.
Keep very close contact with the agency that you/your young person selects and be prepared to assist the agency and point out when their processes are not satisfactory and/or appropriate. They are accountable to their clients and all have codes of practice and complaints mechanisms.
5.
Introduce the agency to the Working with Fragile X video produced by FXAA in 2015
6.
Involve the FXAA’s Family Support staff member Amanda, when necessary.
7.
Be your person’s advocate at all times as you know them best.
Fragile X Family Support - A Welcome and a Farewell I am very pleased to have started in the role of Family Support Counsellor and look forward to getting to know the Fragile X Community members and their families over the coming months. I will continue Janie’s role, offering counselling and support to families, couples, siblings and individuals affected by Fragile X syndrome or other Fragile X associated issues. I’m available in the office and by phone 3 days a week: Tuesdays, Thursdays and Fridays. Amanda Rummery-Hoy
1300 394 636 (free call ) or Amanda@fragilex.org.au
Counselling offers a safe non-judgemental place to get support with how you are feeling, an opportunity to consider new perspectives or sometimes assistance to resolve or manage your situation. I am able to offer face to face counselling (in the Sydney area) or Skype or phone-based counselling support anywhere in Australia.
Wishing Janie Roberts all the best Janie was part of the Fragile X team for more than 4 years in the family support role of Counsellor. Janie provided tremendous support to our members and families over many years and built strong relationships with many of us. Her empathy and understanding have been crucial for many in helping them handle difficulties and find new pathways. Janie also played an important role in promoting wider understanding of Fragile X and of the support needs of families impacted by Fragile X. Janie left to take up a teaching position - teaching counselling to college students. Janie will also have a counselling role at the new FXTAS and premutation clinic at St Vincent’s Hospital in Sydney, which commenced in February. Page 11
March 2016
Fragile X Association of Australia
Research Matters: Testing and Screening for FX Recently, there have been two papers published based on work completed by researchers in Victoria, both around testing and screening for Fragile X. A summary of each paper is below.
Clinical Audit of Genetic Testing and Referral Patterns for Fragile X and Associated Conditions This paper reports on outcomes of an audit of laboratory and clinical databases of genetic tests performed between January 2003 and December 2009, and in 2014, to determine genetic testing request patterns for fragile X syndrome and associated conditions. It also reports on the number of referrals for genetic counselling and multidisciplinary management over this time period. Overall, an expansion (full mutation, premutation or grey zone) was detected in 3.7% of about 14,500 tests. The majority of tests for fragile X were requested by paediatricians who ordered around 70% of all tests. The median age at testing for children with a full mutation and no family history of fragile X was 2.1 years for boys and 6.1 years for girls when paediatricians ordered the test. However, when tests were ordered by other health care professionals the age at testing for diagnosis was much higher. The median age of testing for people with a full mutation (with or without a family history) who were referred by GPs was 34.2 years with most of these referrals being for men. Overall, people with a premutation were typically tested at a much later age (median age 33.2 years for men and 36.4 years for women) with the majority of tests ordered to identify carriers, rather than to identify FXPOI or FXTAS. The analysis showed that the only factor that increased the likelihood of a positive test result, either full or premutation, was family history of intellectual disability. It also demonstrated that following testing, the families of around 25% of people with any diagnosis have most likely not been referred to a clinical service that provides genetic counselling or multidisciplinary management. The authors conclude that the delay in diagnosis and lack of referrals to appropriate clinical services may negatively impact families. They also highlight the ongoing need for awareness and education of health care professionals around the diagnosis and familial implications of fragile X syndrome and associated disorders of FXPOI and FXTAS. From American Journal of Medical Genetics. Cotter M, Archibald AD, McClar en BJ, Burgess T, Francis D, Hills L, Martyn M, Oertel R, Slater H, Cohen J, Metcalfe SA. 2016. The full article is available online: http://www.ncbi.nlm.nih.gov/pubmed/26892444)
“It gives them more options”: Preferences for Preconception Genetic Carrier Screening for Fragile X Syndrome in Primary Healthcare As testing technologies have improved, there is now greater ability to screen for genetic carrier status, however, the challenge is to determine how best to deliver broad, population-based carrier screening programs to maximise the benefits and minimise harms. This paper reports on a study of stakeholder views about offering carrier screening for fragile X syndrome to the general population. The study used interviews and focus groups to explore different groups’ views and perceptions about the practicalities of carrier screening and strategies for offering it to people when they are in a healthcare setting. In total, there were 188 stakeholders who participated in the research – 81 healthcare providers, 29 relatives of people with fragile X syndrome and 78 members of the general community. Some of the key themes that emerged include: · · · ·
The importance of raising community awareness about screening and the need for appropriate support for carriers Healthcare provider training and resource implications of a population-based screening program including managing test-positive results A preference for preconception carrier screening and for making sure people have access to information to help them make an informed decision about screening The suitability of a primary care setting (eg at the GP, family planning or women’s health clinic) to access large numbers of people for screening although several challenges such as time pressures and variability in the health professionals’ knowledge were also identified
From Journal of Community Genetics 2016 Apr; 7 (2) 159-171. (Reference: http://www.ncbi.nlm.nih.gov/ pubmed/26842720). http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796042/ Page 12
March 2016
Fragile X Association of Australia
Research Matters: Newborn Screening for FX Newborn screening: One of the largest NHMRC grants awarded for a Fragile X research project in Australia A research team headed by Dr David Godler from the Murdoch Childrens Research Institute has won a 3 year $780,000 project grant from National Health and Medical Research Council (NHMRC), one of the largest NHMRC grants ever awarded for a fragile X research project in Australia. Other investigators on this team include A/Prof Howard Slater from Victorian Clinical Genetics Services; Prof David Amor and A/Prof Lesley Bretherton from the Royal Children’s Hospital; Dr Quang Minh Bui from the University of Melbourne; Dr Richard Norman from Curtin University and Dr Mike Field from Hunter Genetics. The study is also supported by the Royal Children’s Hospital Foundation, and the Victorian Government’s Operational Infrastructure Support Program, with most recruitment and assessment being located in the Royal Children’s Hospital, Victoria and Hunter Genetics, NSW. This project will be the largest study of its kind in the world. We will investigate how often fragile X syndrome occurs and how well novel technology recently developed by our team is able to screen for fragile X in newborn babies. Whilst we know that large numbers of new families are diagnosed with fragile X syndrome each year, this diagnosis is often not made until children reach school age. By this time parents may have had another affected child. Delayed diagnosis and failure to recognise and manage fragile X syndrome also means that families may not receive the best early interventions. We also believe some children with fragile X syndrome might be missed altogether because there is no routine testing for all children. This project will give us some idea of how many children or young people with fragile X syndrome remain undiagnosed and whether routine newborn screening would fill this gap. We will also collect information on the cost of raising a child with fragile X to show government that routine screening is cost effective. This study would not be possible without the information that came from the Australian fragile-affected families who participated in the original FREE FX Study between 2011 and 2013. We extend our deepest thanks to these families, and invite families that have not yet participated into our new FREE FX study. Please see the study advertisement on page 16 of this newsletter.
Fragile X profile in the media How I used science to recreate my family history Patti Ruby has shared with Australian Women’s Weekly her story of using IVF technologies (Pre-Implementation Genetic Diagnosis) in her endeavour to have a family and avoid passing Fragile X on to her children. She says: “I decided early on that I did not want to have a baby with the genetic disorder Fragile X. It’s not that I couldn’t love a child with a disability, I was just really honest with myself about how I wanted my life to be, and the lives I hoped my children would have. As a Fragile X carrier myself I have a 50/50 chance of passing it on to my babies, and I did not want to have a daughter who was a carrier, or care for an affected son. When I made that decision I was naïve about how this journey would affect my life forever.”
Patti was keen to share her story with the Women’s Weekly for Fragile X Associaion because, as she said to us, she believes that “with education comes knowledge and with knowledge you have an informed choice about Patti has two children, unaffected by Fragile X. Her story is on AWW online: http://bit.ly/23mCrBe decisions you may have to make in life”. Page 13
March 2016
Fragile X Association of Australia
FX Family Get Togethers In Melbourne In Melbourne a group of families gets together once a month for a lunch or outing. The dates and locations are posted in the FX Victorian group facebook page. If you’d like to catch up with other families at these get togethers , contact Bronwyn by email bronwyn@seanwyn.net or call Wendy in the Fragile X office on 1300 394 636. Lilydale Lake, February 2016 In Perth Shante Sweeney arranges occasional get togethers for FX families in the Perth area. Details are in the WA Fragile X Group on facebook. Or contact Shante: sripper-sebbes@hotmail.com In Sydney A FX family picnic will be arranged later this year. Wendy will email details to NSW-based families, and post on facebook.
Diary Dates
June
Membership subscription renewals
July 22
Fragile X Awareness Day
October
Annual General Meeting
If we can help with anything please get in touch
Wendy Mon-Fri
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Liz Fridays
Katrina Mon-Tue
Amanda Tue/Thurs/Fri
March 2016
1300 394 636 or support@fragilex.org.au
Fragile X Association of Australia
FXAA BOARD 2015-2016
Robyn Iredale President NSW
Bruce Donald Treasurer NSW
Cathy Love VIC
Pam Montgomery VIC
Judith Lenart Secretary NSW
Nyleta McRae QLD
Shane Mansfield VIC
There will be two vacancies on the Board in October, due to the planned retirement of longstanding Board members Robyn Iredale and Bruce Donald. If you’re interested in joining our Board of volunteer directors, we’d love to hear from you. Contact Robyn Iredale or Wendy Bruce: 1300 394 636 or wendy@fragilex.org.au
In February, Jorg Richstein, parent and head of the German Fragile X organisation, Robert Miller, former executive director of the National Fragile X Foundation in the US and Prof Randi Hagerman announced the formation of International Fragile X Alliance. “We, as a global community serving families with Fragile X in many countries, need to help those who have little or no support so far. “ The IFXA has been formed for the purpose of mutual organisation-to-organisation support. Fragile X Association of Australia is one of the founding members. The goals of IFXA include: * Information exchange for existing national family associations/groups * Guidance in the formation of new national associations/groups * Better help for families already diagnosed with FXDs through new & more effective organisations * Sharing experiences to improve the ability of clinicians to make the proper diagnosis & treatment * Helping to establish comprehensive & consistent standards for clinical care, therapies & treatments * Enhancing education & training for families & professionals who are affected by/interested in Fragile http://www.ifxa.net/
July 20-24: 15th International Fragile X Conference in Texas The NFXF biennial international conference presents a unique opportunity where researchers and parents can interact. The majority of the sessions are “family friendly” and cover Fragile X syndrome, FXPOI and FXTAS. Discover the latest research; Learn new techniques, behavioural interventions and coping strategies, connect with researchers, clinicians, educators, psychologists and parents. www.fragilex.org Page 15
March 2016
Fragile X Association of Australia
Research Matters
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March 2016
Fragile X Association of Australia