October 2017 June 2017 Passion for Sport Information Days Workshops Hobart & Brisbane
FX Fathers Study Fragile X in the News Clinical Trial Research Matters
Healthcare and ID GPs and Diagnosis FX FXAwareness AwarenessMonth! Month! and and moreâ€Ś... moreâ€Ś...
The Kerry Family
Photo credit: Daniel Linnet
Dear Members and Friends, We have had a very interesting couple of months. July was one of our big events for the year with FX Awareness month. The illumination of landmark buildings for FX Awareness day on 22nd was a national and bigger event this year, and the release of the results of the MCRI Fragile X carrier study generated outstanding media coverage of Fragile X. Some sad news. After a successful three years running the medical community awareness program, Katrina Weir has moved on to other professional challenges. I offer Katrina our deepest appreciation and acknowledge her achievements in increasing understanding of Fragile X-associated conditions in the medical community: Strengthening and extending our network of experts and education providers in the areas of health, genetics and intellectual disability. These strong relationships have led to opportunities to raise awareness of FX to many thousands of medical professionals right across the country. Developing materials to increase understanding of Fragile X across a wide audience - including presentations, brochures, magazine articles, online stories, flyers, and videos. Masterminding the complex presentation and networking schedule for Profs Randi and Paul Hagerman in 2015, across Melbourne, Perth and Sydney. Paul and Randi had never been so efficiently & effectively deployed to medical professionals and families in Australia. (and they very much enjoyed their trip!!) The Association’s Annual General Meeting will be held on Sunday 26th November. There are two Board vacancies to be filled. Many thanks to Director Cathy Love who will step down prior to the AGM after 4 years on the Board. I encourage anyone interested in knowing more about what our Board does to contact Wendy Bruce on 1300 394 636. The FXAA Office has a new home. After many years in and around Manly, in Sydney, we’ve relocated to Brookvale, which is nearby and very accessible by car & public transport. Many thanks to Bunnings for donating paint and furniture to spruce up the new office and providing volunteers to help paint! Do drop in if you’re in the neighbourhood! Many thanks to the members who have come forward with fundraising ideas, and have offered to host or take part in events. Cynthia Roberts raised over $8000 in the Sydney City2Surf in August – her best ever fundraising result! Mike & Helen Tozer and their team ran excellent times and raised more than $4,000. Mike attracted lots of media attention by wearing the blue suit, competing in both the City2Surf and the Sydney Marathon! Special thanks to Shane Lyons and Jo Ryan for the very successful fundraiser High Tea in Launceston, which raised $3500 and was a great afternoon. Amazing effort and the second year for lighting up orange for FX in Launceston. And thanks to Katherine Brown, in Adelaide, who organised a movie night in August that was successful in raising $2,000. The Board is focused on our fundraising strategy and the urgency of securing new funding for our continuing operations. We are looking at options to reduce our costs but do not want to impact on the level of support we offer to families. We need to raise an additional $100,000 to replace a grant which ends in a few months. The Board is investigating some potential philanthropic leads but it is an extremely competitive market, so if you can help us help you, please do. Five donors @ $20,000 or 100 donors @ $1,000. Sounds simple! Finally, it is a privilege and a pleasure to host the highly regarded experts Dr Marcia Braden and Dr Jonathan Cohen, who will lead FX information days for us in Brisbane on 1 November and in Hobart on 3 November. Dr Braden and Dr Cohen will also be available for some clinical assessments. For details about clinic places, please contact Wendy. Graham Hook, President, FXAA
BRISBANE Wednesday 1 November 2017 HOBART Friday 3 November 2017
Don’t miss this opportunity to learn about the latest in Fragile X. It’s a privilege to have Dr Marcia Braden return to Australia to join our local expert Dr Jonathan Cohen for a series of updates on Fragile X. Dr Marcia Braden is an educational psychologist who specialises in educational strategies and behaviours in children and adults with Fragile X syndrome. Dr Jonathan Cohen is the medical director of the Fragile X Alliance Clinic in Melbourne. Together they will lead a full day program devoted to the latest on Fragile X:
Strategies to support the Fragile X learning style Daily living strategies and successful supports Update on Fragile X conditions, and the latest in research
Prof Randi Hagerman says: BRISBANE
“Dr Braden is the most experienced psy-
Wednesday 1 November, 9:30-4:30 Souths Leagues Club, 120 Jane Street, West End (Free parking) Bookings online at trybooking: http://bit.ly/2hXtO2R
chologist in the field of Fragile X that I know. She has seen patients for over 20 years and her behavioural and academic programs have made a wonderful difference for the children she treats.”
HOBART Friday 3 November. 9:30 –4:30 Best Western Hobart, 156 Bathurst Street, Hobart
Ticket prices and more information: www.fragilex.org.au OR call us on 1300 394 636
Dr Braden and Dr Cohen will offer a limited number of clinical assessments in Brisbane and Hobart. Contact Wendy on 1300 394 636 for details.
Fragile X Achievement Awards 2017 Each year the Fragile X Association Achievement Awards celebrate perseverance and personal successes! The Awards are intended to inspire and encourage the people who are nominated, and their family and friends. They are also inspiring for everyone in the Fragile X community!
Past winners have been recognised for their personal achievement across a wide range of areas. Achievement at work or school. Efforts in sport, or in art. In achieving independence, or in building up skills. In supporting other people in the family or contributing to a community. To be eligible: Closing date: Winners announced:
The person nominated must be part of the Australian Fragile X community Nominations close Friday 10 November 2017 Annual General Meeting, Sunday 26 November 2017
NOMINATE SOMEONE for an award — send an email to firstname.lastname@example.org with the following:
The name of the person you nominate Your full name and contact details Description of the person's achievements (maximum of 2 paragraphs)
If you have any questions about the Awards, contact Wendy.
Venue to be advised
So many people helped to raise awareness of Fragile X in so many ways right across the country throughout the month of July! From community events, fundraisers, talking to the media, photo opps, a High Tea, taking photo portraits, designing our graphics and being really active on social media. And lighting landmark buildings orange in major cities. What a month! Some special mentions: Shane Lyons and Ben & Jo Ryan, Margaret Tappert, Sue Bride, Kate Stokes, Nyleta & Shelley McRae, Janine Peate, Lisa Ryan, Graham Hook, Professor Sylvia Metcalfe, Dr Jonathan Cohen, Oliver & Kerry Moore.
Thank you to everyone who was part of Awareness Month 2017!
Melbourne! Brisbane! Brisbane!
Canberra! Page 5
Fragile X Carrier Screening Study New research by Murdoch Children’s Research Institute has found that carrier screening can be offered to women with minimal psychosocial harms, as long as the appropriate information is provided and pre-screening genetic counselling is offered. The findings from this research support the authors’ recommendation that Fragile X screening be offered to women in the general population who are planning to start a family.
Authors of the study included Professor Sylvia Metcalfe, Group Leader, Genetics Education and Health Research, Murdoch Children’s Research Institute and Department of Paediatrics, University of Melbourne, and Dr Jonathan Cohen, Director of Fragile X Alliance Inc and Genetic Clinics Australia.
The name of the study is “Informed decision making and psychosocial outcomes in pregnant and non-pregnant women ofThe study provides evidence to counter existing concerns fered population Fragile X carrier screening.”
about offering Fragile X screening in the general The full paper is available online: http://www.nature.com/gim/ population. It calls for current international guidelines to journal/vaop/ncurrent/full/gim201767a.html be updated to include routine offering of Fragile X carrier screening to women in the general population, regardless of family history of Fragile X or perceived risk.
The results of the study were covered widely by the national media in newspapers, radio, TV broadcasts and social media on Monday 31st July 2017. A fantastic end to Fragile X Awareness month!
Kerry and Oliver Moore in the Spotlight to Promote MCRI population Carrier Screening Kerry Moore decided to become a spokesperson for a study into Fragile X carrier screening as a way to give back to the health professionals that have supported her, and to the Fragile X community. When Kerry and her 15 year old son Oliver, who has Fragile X syndrome, agreed to help Murdoch Children’s Research Institute (MCRI) promote the study, they could never have anticipated the overwhelming level of media interest in the research and the amount of television, newspaper, online and radio coverage that resulted.
Photo credit: Luis Ascui, Fairfax Media
On the last day of July, Fragile X Awareness Month, Kerry and Oliver spent most of the day being filmed and interviewed by journalists from around Australia who were About Kerry’s Family When Oliver was only six months old, Kerry became looking to compile a story about the outcomes of the concerned that he wasn’t meeting developmental milestones. research. At that time, she saw a developmental paediatrician who described Oliver as ‘borderline normal’ and inquired as to why Kerry discussed her family’s experience with Fragile X Kerry was so worried about him. syndrome including her and her husband’s decision to pursue assisted reproductive technology for subsequent When Kerry mentioned that she had twin adult cousins with pregnancies. She also encouraged anyone who is offered an undiagnosed intellectual disability, and a niece with screening for Fragile X syndrome to take it as she believes learning and speech problems, the paediatrician understood having knowledge of being a carrier allows families to her concern and ordered a battery of tests, including testing make informed family planning choices. for Fragile X syndrome. When the paediatrician suggested “Although everyone is different, for me, the choice is clear. I would rather take a simple screening test and be informed about choices I have, than not know. I would thoroughly recommend screening to everyone – it’s so easy to do. What you do with the information is then up to you,” Kerry said. Kerry described the experience of being involved in a major media campaign as ‘hugely rewarding’. She was impressed with the respectfulness and kindness of the journalists and cameramen towards Oliver and his needs.
Kerry and her husband go to her office to learn the results, Kerry thought the problem was going to be low iron. It turned out to be Fragile X syndrome.
Oliver’s diagnosis prompted a referral to a genetic counsellor and cascade testing for the entire family. This revealed that Kerry and two of her sisters are carriers, and confirmed her cousins and niece as having full mutation Fragile X syndrome.
Kerry and her husband had two subsequent pregnancies and Oliver now has two younger brothers aged 13 and 10. She became pregnant naturally with her second born and learned that the baby was unaffected through an agonising wait for For Oliver, it was an exciting experience and a chance to the results of a CVS (chorionic villus sampling). For the third have the day off school, however Kerry said that he found pregnancy, she decided IVF and PGD (preimplantation it overwhelming to watch himself on that night’s television genetic diagnosis - where the embryos are screened for news. Interestingly, her appearance on mainstream Fragile X syndrome before being implanted), was the best media has also promoted discussion with people in her option and based on her experience, would absolutely local community who weren’t aware that Oliver has Fragile recommend that pathway if it is an option for other families.
Fragile X Association of Australia and MCRI are extremely grateful to Kerry and Oliver for giving up their time and for agreeing to participate in what turned out to be the story of the week. Their participation really brought the concept of population carrier screening to life and because the media coverage was so widespread, has helped raised awareness of both the condition and the option for carrier screening among a much broader section of the Page 5 Australian population. Page 7
Although Kerry and her husband were in shock at the time of the diagnosis, they are now very thankful to know that Oliver’s difficulties are caused by Fragile X syndrome. “Because we have a confirmed diagnosis, we have realistic expectations for Oliver’s development and progress. Without a diagnosis, many families are left wondering. “The diagnosis also allowed us to plan for our other pregnancies. This has meant we have been lucky enough to give Oliver two brothers who are not affected by Fragile X syndrome,” Kerry explained.
Many thanks to hardware store Bunnings for their generous donation! As part of their community support program, Bunnings at Warringah Mall in Sydney donated paint and some furniture to help us kit out our new office! Very special thanks to Alexis and Sherie from Bunnings who helped Wendy give the office a makeover!
Our new FX office address: Suite 204 20 Dale Street Brookvale, Sydney
Ross Mackenzie. First visitor.
Orange FX scarves for July
Ben & Jo Ryan in the Launceston Examiner. Photo credit Scott Gelston
Congratulations to Mike Tozer, who ran a full marathon in the fast blue suit on 17th September Mike was very keen to take out a SECOND Guinness World Record for running in a suit! What an amazing race. 42km around Sydney, finishing up at the steps of the magnificent Opera House. Mike set a cracking pace and at 2 hours and 50 minutes, he beat the current Guinness World Record holderâ€™s time by 8 minutes! But the first suit over the line on the day was in fact Matt Whittaker, also from Sydney, who set a new record at 2:43. In the leadup to the race, and afterwards, Mike achieved fabulous media coverage for Fragile X syndrome and the reason he runs. Mike and Joshua Tozer appeared on Channel 10â€™s Studio 10, on Friday 15th September, ahead of the marathon in a 6-minute interview. You can watch the video of the interview on youtube.
Congratulations Mike, on a fantastic running season this year. A magnificent effort raising the profile of Fragile X syndrome and being a champion fundraiser!
Two suits across the line! Mike and Matt
On the road
Research Matters Australian Clinical Trial of Skin Gel Completed A number of Australian children with Fragile X syndrome participated in Zynerba’s recent clinical trial of a skin gel for the treatment of symptoms of Fragile X syndrome n people aged 8-17 years old. A total of 20 patients were enrolled in Brisbane, Sydney and Melbourne. On 28 September, Zynerba issued a media release announcing “positive top line results from an open label exploratory Phase 2 FAB-C (Treatment of Fragile X Syndrome Anxiety and Behavioral Challenges with CBD) clinical trial evaluating ZYN002 cannabidiol (CBD) gel in pediatric and adolescent patients with Fragile X syndrome (FXS). The study successfully met its primary endpoint, achieving a 46% improvement (p<0.0001) in the total score of Anxiety, Depression, and Mood Scale (ADAMS) at week twelve compared to baseline. ZYN002 also achieved clinically meaningful improvements in all measures of the Aberrant Behavior Checklist for Fragile X (ABC-FXS), which address the key symptoms of FXS including social avoidance, temper tantrums, repetitive movements, and hyperactivity.” It is anticipated that Zynerba will meet with the US FDA to seek approval to run a next stage trial. Zynerba has written to Fragile X Association of Australia to say that the company is very grateful to the investigators and families in Australia who participated in this study.
Invitation to Take Part in a Research Project on Walking Patterns A research project looking at walking patterns in children with Fragile X syndrome and their siblings is now underway at the Murdoch Children’s Research Institute in Melbourne, and the project team is seeking children who are ≤18 years old to undertake a short appointment (30 mins for children with Fragile X and 1 hour for siblings). The project is being run by Audrey Rattray and Dr Claudine Kraan, under the supervision of Dr David Godler.
If you would like more information about this study, please contact Audrey or Claudine on 03 8341 6496 or via email (email@example.com or firstname.lastname@example.org) This project has been approved by the Royal Children’s Hospital Ethics Committee (HREC 33066 and HREC 34227).
The results of the study are intended to lead to early diagnosis of fragile X and inform clinical professionals on providing more personalised treatment options for children and their families. The walking study is linked to the larger FREE FX study that involves more comprehensive cognitive and behavioural assessments being conducted by the cytomolecular diagnostic research group. Page 10
Seeking participants for FXTAS Study Project name: Genotype-phenotype relationships in Fragile X families. (Longitudinal study of clinical, genetic and cellular function markers of the FMR1 premutation-associated neurological disorders in older male and female carriers.) Project principal investigators: Prof Randi Hagerman in the US and Dr Danuta Loesch for the Australian site. Aims and significance of the study For the last 3 decades, we have been conducting studies on various aspects of Fragile X-associated Disorders. These studies led to many important publications, clinical applications in this field, and international recognition. Because of acknowledged contribution and excellence of our research, we have succeeded in obtaining continuing support from the National Institutes of Health, USA (NIH) since the year 2002 to conduct Fragile X studies in collaboration with the team from the University of California at Davis led by Prof Randi Hagerman. One of the most important findings from these studies was that some males (and a much smaller proportion of females) carrying small expansions of CGG repeat in the FMR1 gene (called premutation) develop a neurological disorder manifesting as tremor, imbalance, weakness in legs, and cognitive decline as they get older, which has been named Fragile X-Associated Tremor-Ataxia syndrome (FXTAS). The earlier research of this condition showed that the FMR1 premutation generates excessive an amount of genetic message presenting as the elevation of ‘messenger RNA’, which transmits the genetic information from DNA to the protein- making system. So it appears that the FMR1 gene in premutation carriers is ‘overactive’ and this leads to the neurological disorder. Further to these discoveries, in our more recent NIHsupported study we have been investigating this problem in more depth by trying to answer the question why a substantial proportion (nearly 50%) of male premutation carriers do develop FXTAS, some others (about 20%) develop only isolated neurological problems, and the remaining 30% are totally unaffected. In order to answer this question we need to understand the pathological processes leading from the elevation of the messenger RNA (mRNA) to brain cell loss and neurological disorder. In order to unravel these processes our study has identified a series of molecular biomarkers from the most accessible human tissue, blood, which reflect the way individual cells respond to a stress caused by the elevated expression of the expanded mRNA. Page 11
By Dr Danuta Loesch, Latrobe University, Melbourne
By relating these markers to genetic changes occurring in the premutation on the one hand, and to the clinical (neurological, MRI) and neuropsychological changes on the other, we may be able to understand how and why individual carriers differ in their response to cellular stress. The outcome may thus have important implications in prevention of disease, and the identified biological markers may directly indicate treatment targets. Our current 2017-2022 study is a continuation of the investigations described above, because in order to achieve our goals and confirm our hypotheses by means of appropriate statistics, we require a much bigger sample of participants carrying the premutation, including the males who have been diagnosed with FXTAS, or experience relevant neurological problems, or are unaffected. In addition, in the current study we apply the longitudinal model, in order to monitor the progression of the disease, and identify the factors determining its fast or slow progression. The results of this study, apart from their prognostic value, will contribute important information to our understanding of underlying mechanisms of progressive neurological changes and brain damage. Seeking participants and tests We invite all males carrying the premutation aged 50 years and over to participate in our study, regardless of their health status, as well as female carriers, particularly those who are affected by FXTAS. In addition to neurological and neuropsychological assessments performed by the respective specialists (Prof Storey, Dr Loesch, and clinical psychologist personnel) we conduct MRI (magnetic resonance imaging) testing (unless there are contraindications, or a participant does not feel comfortable with it). We also collect blood samples to measure the level of messenger RNA, and to look for some other changes/ biomarkers, which may allow us to understand why a person has developed, or has a high risk of developing the full blown FXTAS. All the testing is free of charge, and specialist’s advice or genetic counselling will be provided if required. We intend to repeat all the testing after 2 and 4 years after initial investigation, but we can also use Information from a single session in case the follow-up testing is not possible.
The location. Ideally, we would like to conduct the testing in our clinical room in Melbourne, at the La Trobe University, Bundoora Campus. We will reimburse participants’ travel expenses and overnight hotel stay in Melbourne if required, since we do not wish to conduct all the tests in one day to avoid fatigue. However, if a participant is not willing or is not strong enough to travel, our team will see him/her in their home environment, where blood samples will also be collected.
Contact information. The detailed information about many aspects of this study will be given in our consent form which we will provide before the testing begins. If you are interested in participating in the study or would like more information, please contact: Dr Danuta Loesch (03) 94584014(ah) or 04 07687145. Or by email email@example.com Ms Penny Hartman (RA, clinical neuropsychologist) at (03) 9479 2329 or 04 03241326. Or by email: firstname.lastname@example.org
New Short Videos on Diagnosis of Fragile X
In July, ThinkGP, part of Reed Medical, created a Fragile X section on their GP education website and published three short videos which were launched to their large subscriber base to coincide with Fragile X Awareness Day on 22 nd July. These resources play an important role in the supporting education of general practitioners and other medical professionals about Fragile X syndrome. These videos can also be viewed on the Fragile X Association youtube channel
A parent’s perspective on early diagnosis with Mike Tozer http://bit.ly/2u9E8dC A parent’s perspective on the ongoing role of a GP in managing the health of an adult with Fragile X with Dr Cynthia Roberts http://bit.ly/2uzyez9 A GP’s perspective on when to consider Fragile X as a diagnosis with Dr Jonathan Cohen http://bit.ly/2v9vKL0
These videos have been viewed on average 2,000 times each on the ThinkGP website, and around 1,000 times each on our FXAA facebook pages and youtube!
The Link between Fragile X and Primary Ovarian Insufficiency 25% of women who are carriers of Fragile X will undergo FX-associated Primary Ovarian Insufficiency (FXPOI). Earlier this year, GP health provider HealthEd produced a short video for us on the link between Fragile X and Primary Ovarian Insufficiency. This 2-minute video is intended to help educate and inform GPs about the importance of testing young women with early onset menopause with undiagnosed cause for Fragile X carrier status. The questions scripted for the video were produced by Katrina Weir of FXAA. Many thanks to Prof Rod Baber who kindly gave his time to present this short video, now on youtube. Page 12
Getting Friends Together and Fundraising! Fragile X Awareness High Tea, Launceston The High Tea in Launceston was an outstanding success! Shane Lyons, Jessica Lyons, Ben Ryan and Jo Ryan put together a fabulous event. More than 100 people on the day, raising more than $3,000! Raffles. Door prizes. Speakers. Sharing understanding of Fragile X. Thanks to everyone who came along, wore orange, shared their photos, and had fun! And sincere thanks to The Grand Chancellor and the many Launceston businesses who supported the High Tea.
Photo credit: Kitty Stokes Page 13
Diagnosis of Fragile X:
Parental concern an important indicator for GPs This article on the importance of responding to parental concern was prepared by Fragile X Association and based on interviews with a number of specialist doctors. While it was written specifically for GPs it is equally as relevant to all other health professionals who have early and ongoing contact with mothers and their young children.
When presenting on the topic “What GPs need to know about intellectual disability”, Professor Stewart Einfeld, Centre for Disability Research and Policy, University of Sydney, said that parental concern is enough to indicate further testing. And according to A/Professor Natalie Silove, consultant paediatrician and Head of Child Development Unit, The Children’s Hospital at Westmead, research shows that parents have an 80% chance of being correct. In other words, if parents express concern about their child’s development then in 80% of cases, assessment will confirm their instincts are right.
Prepared by Fragile X Association of Australia for publication on the ThinkGP education portal of Reed Medical Education in 2017.
“If GPs are not trained to conduct developmental screening or are not sure how to manage the situation, do not disregard the parents’ concerns but take action and refer on. There is nothing lost by providing parents with access to assessment,” says Professor Einfeld.
Changes in NSW
However, there are changes afoot to help accelerate the early identification of development delay, specifically in NSW where the current system for developmental surveillance is run by child and family nurses using the PEDS, part of the infamous ‘blue book’. As nowadays only 30% of parents visit the child and family nurse after the child turns one, opportunities for early identification are less frequent.
Professor Valsamma Eapen, chair, Infant Child and Adolescent Psychiatry at UNSW, is conducting a research project with NSW Health and Liverpool Hospital in South West Sydney looking at using the opportunistic contact Professor Einfeld believes that a healthcare professional’s with a health professional during vaccination visits to facilitate early identification of developmental problems. threshold for responding to parental concern should be low. When faced with parents who are concerned about their child’s development, current best practice for GPs is Professor Eapen’s trial using the Watch Me Grow webapp to take notice and listen, and if suitably trained, conduct a is targeting parents who are visiting the GP as part of the routine 12 or 18 month vaccination schedule. While in the baseline developmental screening tool such as the waiting room, parents are given an ipad to access the Parents’ Evaluation of Developmental Status (PEDS) or webapp to answer 17 questions – 7 relating to general the Ages and Stages Questionnaire. Alternatively, a GP should refer to a paediatrician or community health development and 10 specific to autism. Once completed, and before the appointment begins, the results are centre. analysed and any parent-reported concerns along with recommendations such as refer for further assessment, “It is important to take action when a parent expresses early intervention etc are communicated to the GP. concern, and the use of a screening tool helps by doing something tangible to show the parent their child’s developmental progress relative to other children of the same age,” says Professor Silove. Follow-up is also essential, even if the child is not showing signs of developmental delay as this will provide further reassurance to the parents. It is very important that health professionals do not provide false reassurance to parents who express concern about their child’s development. This can make parents very angry and feel let down, particularly when they are aware that opportunities for early intervention may have been missed.
The parent will also receive an email with feedback on the results along with anticipatory guidance linked to the USbased Center for Disease Control and Prevention (CDC) Learn the signs. Act Early program which provides a summary of milestones for children aged from 2 months – 5 years, and provides the tools for parents to track their child’s development and act early on any concerns. This is in keeping with the recent changes made by NSW Health regarding developmental surveillance in the ‘blue book’ where the PEDS has been replaced by Learn the Signs. Act Early resources. Professor Eapen is hoping to receive funding for a larger, multi-site trial to continue validating the program.
Diagnosis: A Personal Story Helen Tozer is the parent of Josiah, a six year old boy with Fragile X syndrome. With a background in early childhood education, she knew that Josiah was not meeting his developmental milestones from a very young age. She first raised her concerns with a GP in Hong Kong when Josiah was one month old but her concerns were brushed aside and she was told that he was fine. After a move to the USA and escalating anxiety about Josiah’s development, Helen become increasingly proactive in finding a health professional who would take her concerns seriously and act on them accordingly. “At first, I felt like I needed to justify my concerns and convince the doctor that I was right about my son,” Helen said.
“Not only is this untrue but being continually told that boys are slower to develop is disempowering and undermines a parent’s level of concern,” said Helen.
“The doctor eventually agreed with me which started a diagnostic treadmill that, after endless inconclusive neurological and metabolic testing, finally resulted in genetic testing and the diagnosis of Fragile X syndrome when Josiah was 18 months old.”
When asked if she had advice for other parents who are concerned about their child’s development, Helen says to trust your instincts and don’t give up.
She acknowledges that not everyone is an “instinctive Helen says that she and her husband were told multiple advocate” but urges parents to keep searching for a times by both health professionals and other parents that health professional who acknowledges that your boys tend to be more delayed than girls. concerns are valid and is prepared to work with you to confirm or deny them. Prepared by Fragile X Association of Australia for publication on the ThinkGP education portal of Reed Medical Education in 2017.
Fragile X Community Day Hobart
Photo of the Tozer family for Fragile X Association of Australia by Daniel Linnet of LinnetFoto
Fragile X Association of Australia is extremely grateful to the Calvary Community Council in Tasmania for their support of the Fragile X Community Day which will be held in Hobart on Friday 3 November. We were very fortunate to be a recipient of a Calvary Community Council grant to help fund this important Fragile X community event. It’s a privilege for us to have the support of the Tasmanian community. This event will bring together many families in Tasmania affected by Fragile X. The special guest speakers, Dr Marcia Braden from the US, with Dr Jonathan Cohen from the Fragile X Alliance Clinic in Melbourne, are acknowledged experts in their fields. Together they will lead the one-day seminar and offer individual FX assessment clinics on Saturday 4th November. VENUE
Best Western Hobart, 156 Bathurst Street, Hobart
TICKETS - Book online at Trybooking: http://bit.ly/2xZ5e5W Members of FXAA & their family members $25.00 Fragile X family (not FXAA member) $35.00 Health, education or disability support professional $75.00 (Some sponsored free tickets are also available) CLINIC BOOKINGS: contact Wendy on 1300 394 636 FOR MORE INFORMATION see www.fragilex.org.au
Sr Juliana from Calvary presenting the FXAA grant cheque to Claire Colgrave in Launceston
It was my great pleasure to attend the 3rd International Conference on the Fragile X Premutation, at the Mt Zion Hotel, Jerusalem this September. The meeting was hosted by Dr Shai Elizur and Dr Yoram Cohen from the Fragile X medical group in the highly regarded Sheba Medical Centre at Tel Hashomer. This multidisciplinary group comprises paediatricians, neurologists, obstetricians, geneticists and allied health practitioners who utilise a shared clinical database and run the largest Fragile X clinic in the middle east caring for over 1000 families. Our clinic in Melbourne only has 300 FXS families so we had a lot talk about! As well as locals, this meeting attracts the leading clinical and laboratory researchers from the USA, Europe and around the world who present, discuss, and of course argue (politely) about current approaches to the science and clinical application associated with the gene. The Fragile X full mutation is the most common known inherited cause of developmental disability and single gene cause of autism spectrum disorders. It causes a range of learning problems, emotional and behaviour problems including anxiety and ADHD.
There is currently much work going on to more clearly elucidate the function of the gene including translational research. We heard presentations from basic science through to the use of existing medications used for other conditions to restore normal function. Data was presented on ‘knock-in’ drosophila fly and mouse models which are used to study both downstream effects and ‘rescue’ medications with much promise for the future. Keynote speakers included Prof Paul Hagerman from the MIND Institute in California who presented an overview on FXTAS, and Prof Yonath, the Middle East’s only female Nobel Laureate in Chemistry, who presented a fascinating review of the molecular basis of Genetic Code Translation. Other presentations included the use of a new smartphone app developed in Israel with both research and clinical application for neurological disorders, neurosurgical treatments and screening. Israel is decades ahead of other countries in offering routine genetic carrier screening for relatively common conditions such as FXS, Cystic Fibrosis and Spinal Muscular Atrophy. Screening is provided free by the government and taken up by 80% of the female population prior to starting a family. Preimplantation Genetic Diagnosis (PGD) is a form of IVF also freely available to carriers of single gene disorders, although spontaneous pregnancy with chorionovillous sampling (CVS) has better outcomes.
Genetic carrier screening is becoming routine standard of care in Australia, with Melbourne’s Victorian Clinical Genetic Services offering this technology for the last 2 years in keeping with current Australian and international recommendations. Screening for FXS is increasingly However, the premutation can result in a separate symp- offered together with screening for other genetic tomatic clinical phenotype involving specific endocrine conditions, and increasingly as ‘expanded carrier and neurological dysfunction known as ‘Fragile Xscreening’ where 100 or more genetic conditions are associated Disorders’ (FXD). screened for with a simple blood or saliva test. Our clinic is now offering these tests to the general community in These include Fragile X Tremor Ataxia syndrome (FXTAS), response to increasing demand. Israel has 20 years of a progressive neurological degenerative disorder which experience in this area and their clinicians and may be confused with Parkinson’s Disease, and Fragile X researchers have published widely. It was extremely Premature Ovarian Insufficiency which occurs in 20% of inspiring to see the leading role this group has taken in carriers (compared with 1% in the general population). providing academic leadership to international clinicians and researchers in this area. There are also a range of premutation associated medical Dr Jonathan Cohen and neuropsychological disorders including anxiety and Medical Director executive function defects which may affect a subgroup Fragile X Alliance Clinic, Genetic Clinics Australia of premutation carriers. FXD has been estimated to affect 03 9528 1910 approximately 10 million people worldwide with email@example.com approximately 1 in 250 females and 1 in 430 males www.geneticclinic.com.au, www.fragilex.com,au carrying the premutation.
Launch of International FXTAS Consortium Robby Miller, from the International Fragile X Alliance, also reports on the FMR1 Premutation conference in Jerusalem: “ The meeting also had sections devoted to FXPOI and FXTAS. Though many of the presentations were highly technical in nature, there was much discussion about how to better identify those at risk for a premutation disorder, how and why some premutation carriers develop FXTAS (or “convert” in the jargon of the researchers), how to better – and earlier – diagnose those with a premutation disorder and how to, for those who do develop a premutation disorder, minimize the symptoms. Of course, there was also frequent mention of the long-term goal to prevent the development of premutation disorders. I had the privilege of, along with Dr. Randi Hagerman, leading a session about the new International FXTAS Consortium (IFC) that Randi and I co-founded and that is a joint effort by the National Fragile X Foundation, the UC Davis MIND Institute and the Fragile X Association of Australia. This session resulted in a clear consensus that the initial efforts should focus on the establishment of FXTAS clinics throughout the world and that collaborative research would be the logical outgrowth of that effort.” Robby with Galit Halfon (FX Association of Israel)
This comprehensive 5-page article was written by Dr Rachael Birch, Dr Jonathan Cohen, Prof Julian Trollor. The article was published in July in the medical journal Australian Family Physician, which is the journal of the Royal Australian College of General Practitioners. Fragile X Association of Australia highly recommends this article for GPs and other health professionals, and encourages all our members to take a copy to their GP. The article is available in full on the AFP website: https://www.racgp.org.au/afp/2017/july/fragile-xassociated-disorders-don%E2%80%99t-miss-them/ Australian Family Physician, Vol 46, No 7, July 2017. p487-491
Extract: Objective/s The aim of this article is to describe fragile Xassociated disorders and identify specific considerations for general practitioners (GPs) during identification and management of these disorders. Discussion GPs have a critical role in the identification of fragile Xassociated disorders, as well as coordination of complex care needs. Prompt recognition and appropriate management of these disorders and potential medical and psychiatric comorbidities will have imBrisbane 2016 portant implications not only for the affected patient, but also other family members who may be at risk.
The Generational Impact of Fragile X: One Family’s Story
Rosemarie McRae shared her family’s story of Fragile X with mamamia.com, to help raise awareness and understanding of Fragile X in advance of FX Awareness Day, July 22nd. This is her story: Brisbane-based Rosemarie McRae had an incredible career as a helicopter pilot for 24 years. She fought discrimination against women joining the profession, she filmed for movies, conducted hair-raising search and rescue missions, received a Heroism Award for Saving Lives at Sea and an appreciation award from the Civil Aviation Authority for rescuing four fishermen stranded in a cyclone.
Shelley and Nylete McRae
It was only when one of her grandchildren was diagnosed with Fragile X syndrome, characterised by intellectual disability, speech delay, autism and problems managing sensory information, that genetic testing of the entire Rosemarie was president of the Helicopter Association of family identified Rosemarie and in turn both daughters as Australia, mustered cattle in the Northern Territory and carriers of this serious yet frequently under-diagnosed owned and operated her own helicopter charter business condition. taking visitors to remote locations that are inaccessible by land. Her biography, Whirly Girl 530, was published in The McRae family story is typical of the pattern of 2004. inheritance with Fragile X syndrome. It affects multiple generations within a family and for every new diagnosis But around 1992, at around age 40, all that changed. of Fragile X syndrome, an average of five additional family She started to become fearful of flying over water despite members are identified as being a carrier of the condition. years of experience and ‘not being scared of anything’. Nowadays, Rosemarie, aged 64, lives in full time care in And in 2012, at the age of 60, Rosemarie was diagnosed Brisbane, and has tremors, loss of muscle mass, short with Fragile X –associated Tremor Ataxia syndrome, a term memory loss, confusion and problems with condition that can affect men and women who are organisation and decision making. Her daughter Shelley, carriers of the faulty Fragile X gene. who completed a PhD in biochemistry, is now a single mum raising three children, a son with autism, daughter With the onset of FXTAS, as it is more conveniently with Fragile X syndrome and anxiety, and younger son called, Rosemarie developed the characteristic tremors with both Fragile X syndrome and autism. Shelley has and shakes. Her high level functioning had declined to struggled with anxiety and depression all her life. the point where she was having trouble doing simple Rosemarie’s other daughter Nyleta, an IT consultant who things for herself, and she had increasing anxiety which is lived and worked in Canada and the USA, has three chilcommonly associated with the condition. Rosemarie had dren, two of whom are affected by Fragile X syndrome. early menopause around age 40, a further risk associated Nyleta had early menopause (like her mother Rosemarie) with being a Fragile X carrier, and by the time she was 62, and also suffers from anxiety and depression, which are the progression of FXTAS meant that she couldn’t look very common for women who are Fragile X carriers. after herself any more. Nyleta is on the Board of Fragile X Association of The problem was that Rosemarie wasn’t aware that she Australia. Both Shelley and Nyleta are very active in was a carrier of the faulty Fragile X gene, nor was she raising awareness of Fragile X, and fundraising for the aware that she had passed the gene onto her two Fragile X Association. daughters, Nyleta and Shelley. Many thanks to the McRae family for sharing their story, on Channel 7 news for July 2016, and again in 2017. Page 18
Genetic Counselling and Fragile X Hi, my name is... ... Jacintha & I am a Masters of Genetic Counselling
I was able to present some of the preliminary research findings at the Human Genetics Society of Australasia Annual Scientific Meeting in Brisbane in August this year, which was attended by genetic counsellors, clinical geneticists and diagnostic scientists.
student who has spent some time volunteering at the Fragile X Association of Australia in Sydney. I have an IVF background and for the last 16 years have worked in an IVF laboratory to help mainly infertile couples with their dream of becoming a family. Amongst the The research won an award for its originality and its couples I assisted over the years, some have had a known contribution to genetic counselling practice. genetic condition for which they wanted to screen their embryos such that they could avoid passing this condition on to future generations. It was this group of patients which reignited my passion for genetics. And I recognised the importance of talking to couples about sensitive topics in a way which made it easier to understand. I applied for the Masters in Genetic Counselling course at the University of Sydney and was delighted to be one of 12 other students to be offered a place in the program in 2016. Amongst the other students in my year, there are students with a genetics and molecular biology background and also students with a psychology & counselling history. Our lectures are from genetic experts in the field – either specific genetic disorders or hereditary cancer syndromes. In addition, there are counselling modules which teach us the necessary skills to communicate complex genetics in a way people can understand, to listen attentively, to guide informed decision making and also enable us to be a patient advocate by understanding the needs of people affected by a genetic condition. A genetic counsellor can essentially provide an ear, a shoulder, an eye or a voice – whatever is required!
During the two years of the course I have undertaken placements with qualified genetic counsellors at various genetic services across Australia and in the Netherlands. My final placement will be in Wollongong at the hereditary I would like to thank the Fragile X Association of Australia cancer clinic. for allowing me to spend some time with them and for promoting the study amongst you, its members. Fragile X Research Project Every student conducts a research project during the course of their two year Masters degree. For my project I teamed with the GOLD Service in NSW and the Fragile X Association of Australia to explore the experiences and information and support needs of non-carrier fathers of children with Fragile X Syndrome. This is a two-part project – part one were telephone interviews and part two will be an online questionnaire, which will become available early next year.
The experience has been very enriching, rewarding, humbling and inspiring – I have learnt so much about a condition I knew relatively little about. I hope the research findings will help to inform and improve current genetic counselling practice and policy and ultimately mean families of children with Fragile X syndrome can be better supported. I also hope to have made a positive contribution to the wonderful work the Association does for its members.
As my Masters is nearing completion I am busily writing Jacintha Luermans up my research findings and will definitely provide you with some feedback – probably in the next FX newsletter! Page 19
Raising the Profile of Fragile X By Beverley Kadish I attended the 27th National Occupational Therapy Australia Conference and Exhibition in Perth in July. Apart from the knowledgeable, dynamic, inspiring and motivating key note speakers each morning, it was an incredible feeling to be surrounded by almost 1000 colleagues sharing my enthusiasm and passion for this unique and ever changing profession. It gave me a new appreciation of how irreplaceable and special OTâ€™s are in this fast paced world of technology and how we are forever embracing ideals such as Partnership, Inclusion and Innovation which was the theme of the conference. I was fortunate to be given the opportunity to give a short presentation entitled Managing Hyperarousal as the Key to Managing Behaviours in Fragile X Syndrome. The presentation focussed on identifying the triggers of the hyperarousal and responding appropriately using strategies such as a withdrawal area, The 5 Finger Approach, deep breathing, singing and using a calm gentle voice to restore a comfortable arousal level. The use of proactive strategies was highlighted and included managing the environment, using visual schedules, Ready/ Not Ready cueing, social stories and role playing. The most important message was that hyperarousal underlies many of the phenotypical behaviours in Fragile X and as such needs to be our focus.
It was an invaluable opportunity to reaffirm what is best practice in occupational therapy, stay abreast of developing trends and new practices and become aware of the expanding scope of this dynamic profession.
The presentation was warmly received and itâ€™s great when people are attentive, take notes and photos of your slides. Thank you to the Fragile X Association of Australia for all There was some interest following my presentation about their support and for contributing to the costs associated how specific and specialised Fragile X Syndrome is. with presenting at this conference. There were many other complementary presentations by by professionals whose names are now just faces. I attended mainly presentation streams on children and families including autism, school and play. Beverley Kadish is a paediatric occupational therapist, with over 20 years experience, who has worked across a variety of settings and currently works in private practice in Melbourne. Bev is trained in Neurodevelopmental Therapy and has extensive experience working with developmentally delayed children. She is also trained in Sensory Integration Therapy and has a special interest in Page 20
sensory processing disorders, helping children and their families to cope with daily life. Bev presents locally and has attended and presented at 2 international FX conferences. Bev is a member of the Fragile X Alliance in Melbourne, working with Dr Jonathan Cohen and consulting as part of the clinicâ€™s multidisciplinary team.
3DN Launches New Intellectual Disability resources for professionals and Carers at Research to Action Day 3DN has launched new must-have practical tools and
The resources that were launched included:
resources designed to enhance the skills of professionals and carers who support people with an intellectual
The Intellectual Disability Mental Health Core
Competency Framework: A Practical Toolkit for Mental Health Professionals
The new resources were officially launched in Sydney on
New e-Learning modules for disability professionals,
25 July 2017 by the Hon. Tanya Davies, NSW Minister for Mental Health at a Research to Action Day which was
carers and mental health professionals Podcasts on responsible prescribing to people with
kindly sponsored by the NSW departments Health,
an intellectual disability for health and mental health
Ageing, Disability & Home Care, and Family and
A new Positive Cardiometabolic Health for People with Intellectual Disability e-Learning module aimed
The day included presentations by carers, advocates, and
at health professionals
health and disability professionals (some of whom were
Find more information about intellectual disability
involved in the development of the resources), and
resources at 3DN’s website: https://3dn.unsw.edu.au/
workshop activities to help attendees become familiar with the resources and how they could be implemented. The day was well attended by health, mental health and disability professionals, carers and advocates, along with academics and those involved in policy development. 3DN’s Dr Rachael Birch, with FXAA’s Amanda Rummery-Hoy, and 3DN’s Prof Julian Trollor at the launch in Sydney
Study: Experiences of Fathers of Children Diagnosed with Fragile X The NSW Genetics of Learning Disability (GOLD) Service, in collaboration with the University of Sydney Master of Genetic Counselling Program, is inviting Australian-based fathers of children with Fragile X syndrome to talk about their experiences surrounding their child’s diagnosis of FXS. The information provided will be used to inform improvements in how genetic services provide support to families of children with FXS. 1-hour interview: the first part of the study involved a 1-hour interview with M Gen Counselling student, Jacintha Luermans. Jacintha is working closely with her supervisor from the GOLD Service. The second part of the study will involved an online questionnaire which will be launched in 2018. Joining the study: If you’d like to be involved with this study please contact Rosie O’Shea: firstname.lastname@example.org or 02 99264684.
Employable Me New documentary series in 2018 Challenging perceptions and creating opportunities
Marty Campbell being filmed for the series at his home in Sydney Production company Northern Pictures has produced a documentary series for ABC Television featuring people with neuro-diverse conditions such as autism, Asperger’s, Tourette’s syndrome and Fragile X syndrome as they look for employment. Based on the award-winning BBC series, this Australian documentary aims to show that having a condition that causes lifelong difficulties can be viewed as a strength, not a disability, in the workplace. The project has the backing of Screen Australia and the NSW Government as well as the ABC. According to the ABC website, “With the help of experts in the field, the series will draw on science to highlight the skills of each jobseeker and match them to roles that can harness their strengths.” NSW Minister for Disability Services, Ray Williams MP was quoted as saying “Research shows that across all sectors, a critical barrier for jobseekers with a disability is the attitude of prospective employers…. I hope that the series will contribute to building positive community attitudes on employment for people with a disability.” ABC Managing Director Michelle Guthrie said “The ABC is committed to telling significant stories of diversity and inclusion that can make a positive change to the lives of Australians—especially those who are disadvantaged.” Marty Campbell, who has Fragile X syndrome, has taken part in the documentary series, and said that he thoroughly enjoyed it. Marty will be a key character in the series! Thanks to FXAA’s Katrina Weir, for introducing the production company to Marty, and many thanks to Robyn Iredale and Marty’s entire family for their involvement and support during the film production. The series will be on air on the ABC in 2018. We’ll post the dates on our website and facebook as soon as we can.
Fundraising and your tax-deductible donations help us to support families impacted by Fragile X.
Help Line 5 days per week Family support Counselling
Information Days and Workshops Information on Fragile X Website and social media
Donation options: monthly donations one-off donations workplace giving programs
For other Direct Donation options
call Wendy on 1300 394 636
If you’re keen to help support us by fundraising, please get in touch!
Laura Patel is an accountant and has joined us to work 2 days a week in a bookkeeping and administration role. email@example.com
Amanda Rummery-Hoy Family Support Counsellor firstname.lastname@example.org Wendy Bruce Executive Officer email@example.com
If we can help with any support or information please get in touch 1300 394 636 or firstname.lastname@example.org
FXAA BOARD MEMBERS 2016-2017 FXXAA BOARD MEMBERS
There will be two vacancies on the Board in October, due to the planned retirement of two of the directors. From top left to right: Graham Hook (President , from QLD), Lisa Ryan (Treasurer from VIC), If you’re interested in joining our Nyleta McRae (Secretary, from QLD), Nadene Board of volunteer directors, we’d love to hear from Lee you.(Director, from NSW), Mike Tozer (Director, from NSW), Contact Iredale or from Wendy Bruce: 1300 394 636 or(Director, email@example.com CathyRobyn Love (Director, VIC), Katherine Brown from SA).
DIARY DATES October 16 Language & communications workshop with Marcia Williamsz —Sydney
November Fragile X Information day Brisbane, 1 November Fragile X Information day Hobart, 3 November Annual General Meeting
Sydney, 26 November
Registered office of Fragile X Association of Australia Inc Suite 204 20 Dale Street BROOKVALE NSW 2100 02 9977 0074
1300 394 636
ABN: 18 655 264 477 Page 24
Featuring FX seminars in Brisbane & Hobart coming up. Family stories. Research Updates. FX Awareness month. Videos to increase awareness o...
Published on Oct 11, 2017
Featuring FX seminars in Brisbane & Hobart coming up. Family stories. Research Updates. FX Awareness month. Videos to increase awareness o...