FX INFO December 2019
Vinn
2019 marked the 30th anniversary of the founding of Fragile X Association of Australia (FXAA). FXAA evolved from the state-based peer support groups founded by families in the 1970’s to connect with each other on the Fragile X journey, and has supported hundreds of families over the years since.
700 other genetic conditions. We are pleased FXAA is involved in the Engagement Reference Group for the study which represents patient groups.
This past year has seen several initiatives to raise awareness of Fragile X in the public arena, and we have continued to work to better inform the medical community about Fragile X-associated conditions.
We have contributed to a review of the NDIS experience of participants and carers, and provided input on the development of an NDIS Participant Guarantee.
We have been contacted by the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with 2019 has also seen FXAA strengthen our contribution to Disability as it seeks input from families and individuals who wish to share their experiences. We will contribute public policy and initiatives on disability and health services of behalf of our members and the wider Fragile to the Commission’s papers on health issues for people with cognitive disability and on inclusion in education X community. settings for children with disability. FXAA has supported campaigns urging government commitment to funding healthcare initiatives for people with intellectual disability. We were pleased to accept an invitation to join the newly established Women’s Health Policy Alliance, convened by Jean Hailes for Women’s Health, where we will advocate on women’s health issues for Fragile X premutation carriers and women who have Fragile X syndrome.
In 2019 our awareness initiatives included several films which were inspiring and had a very wide audience!
Sincere thanks are due to the many volunteers in the Fragile X community and their family and friends who commit their talents, energy and time to running events, sharing stories, making films, fundraising, and increased awareness of Fragile X. Sincere thanks are also due to the individuals, families and organisations 2019 has seen increased interest in understanding who have made donations and provided in kind support Fragile X as genetic carrier screening initiatives develop throughout the year, all of which provide the resources and as the focus on genomics grows in the public arena. needed for us to offer support and service to the Fragile The pilot phase of the Australian Reproductive Carrier X community. Screening study, also known as Makenzie’s Mission, is underway. The study will test 10,000 couples across all Prof Ted Brown, the Board members, Liz Jewell and I states and territories to see if they carry faulty genes that wish everyone a very happy Christmas and New Year! would mean they have an increased chance of having a We look forward to continuing to work with you in child with a severe condition. Fragile X syndrome, cystic 2020. fibrosis and spinal muscular atrophy are 3 key gene Wendy Bruce mutations which will be tested for, along with more than Executive Director
Image credits: Cover photo of Vinn Frazzica of Hobart, by his school teacher. Poster designs by Kate Page 2
Dr Marcia Braden in Australia It will be a pleasure to welcome Dr Marcia Braden back to Australia and New Zealand in March 2020! Dr Marcia Braden is an internationally renowned educational psychologist who specialises in educational strategies and supporting daily living skills for children and adults who have Fragile X syndrome, autism and developmental delay. Dr Braden was last in Australia in 2017, and ran successful workshops for us in Brisbane and Hobart with Dr Jonathan Cohen. On this visit, Dr Braden will be in Melbourne and Sydney from 2nd—7th March, before travelling on to New Zealand for the Fragile X New Zealand family conference. All details will be posted in January 2020 on www.fragilex.org.au
Workshops will cover topics including: * * * *
Strategies to support the Fragile X learning style Daily living strategies and successful supports Understanding anxiety in Fragile X Women and girls and Fragile X
“Dr Braden is the most experienced psychologist 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 people she treats.” Prof Randi Hagerman, MIND Institute, UC Davis California
2-7 March 2020
Workshop: Fragile X syndrome: Improving Support and Care In late November the Warrnambool-based not-for-profit organisation Community Southwest arranged a 1-day Fragile X workshop for disability support providers and families in Camperdown, Victoria. Dr Jonathan Cohen and the team from Fragile X Alliance presented. Liz Jewell, our Family Support Officer, attended the workshop and spoke about the Helpline and services provided by Fragile X Association of Australia.
Visual issues in Fragile X syndrome Rashelle Cohen, Behavioural optometrist
Speech and Communication in Fragile X Bev Sher, Speech and Language Therapist
Occupational Therapy and Fragile X Beverley Kadish, Occupational Therapist
Overview of Fragile X syndrome Dr Jonathan Cohen
Understanding Behaviour and Fragile X: the 4 As: Arousal, Anxiety, Attention and Autism Astra King, Clinical psychologist
Many thanks to Colleen Hughson from First Ladies Productions for videoing the presentations and for taking photos of the event .
These video’d presentations will be available online in late December www.fragilex.org.au Page 3
Family Support Role
Fragile X Helpline Our Helpline is open 5 days a week 9am—5pm EST for inquiries about Fragile X Call: 1300 394 636 Emails: support@fragilex.org.au
Liz Jewell Family Support Officer
Family Support is available to all people in the Fragile X community and can be accessed and provided in a number of ways: Email: Phone: Face to face:
To help us support the Fragile X community in 2020 and beyond, we’ll be seeking your feedback! A short survey will be open in late January, and which can be completed online or in writing.
liz@fragilex.org.au 1300 394 636 skype or, if in Sydney, in person
Family Support is available Mon/Tue/Thurs 9am-5pm EST.
Look out for a link to the survey by email and website in late January.
Genetic Counselling Consumer and Community Advisory Group We were delighted to be invited to join the newly established UTS Graduate School of Health ‘Consumer and Community Advisory Group’ to help shape the research strategy and Master of Genetic Counselling Curriculum. Dr Chris Jacobs of UTS Genetic Counselling said: “This initiative brings the voices of genetic counselling consumers into the classroom. Meaningful and authentic engagement with consumers and community members also ensures research is relevant and client-centred.” Inaugural members of the group includes an Aboriginal Elder, an Indigenous Health representative, the LGBTQI+ community and a range of non-government organisations that support people and families living with inherited genetic conditions
Chris Jacobs (UTS), Alison McEwen (UTS), Heather Renton (SWAN) , Danielle Manton, Nick Kakaroubas, Liz Jewell (FXAA) Jenny Rollo (Genetic Alliance) and Kaylene Manton.
Family Picnic in NSW for Carers Week
In New South Wales we aim to have a family picnic every 3 months, to bring families together. The most recent picnic was held in Wollongong in October, to mark National Carers Week. This picnic was funded by a small grant from Carers NSW. Get in touch for details of the next NSW family get together: support@fragilex.org.au or call 1300 394 636 Page 4
Profiling Carrier Screening and Fragile X
Brisbane, October
Perth, November
Melbourne, October
Many thanks to Dr Ramesh Manocha and the team at Healthed for giving us the opportunity to take part in the Healthed series of general practitioner Education Days each year.
conference delegates, hand out brochures, and spread the messages.
In 2019 we’ve had a presence at 10 of these Education Days, where we have joined with representatives from the peak bodies for spinal muscular atrophy and cystic fibrosis and with genetic counsellors who will be involved in the Mackenzie’s Mission reproductive carrier screening research trial set to commence in 2020.
Mischa Donnell, Jo Loudon, Sue Hook, Mandy Barker, Shante Sweeney, Diane Bentley, Elisa Orelli, Dr Alison Archibald, Rebecca Mercuri, Karen Lipworth, Stuart McCraith, Katherine Brown, Sarah (Borrie) Schenscher were involved in the Healthed Education Days, along with Prof Ted Brown, Liz Jewell and Wendy Bruce.
We also profile Fragile X-associated conditions at these events as we promote early diagnosis of Fragile X and early interventions for the best outcomes.
2020 We look forward to continuing a strong presence for Fragile X at the Healthed GP Education Days and other professional conferences, by continuing our partnerships with SMA Australia and Cystic Fibrosis Community Connect VIC/NSW and the Mackenzie’s Mission team.
It would not be possible for Fragile X to have such an extensive and consistent national presence at any training events for health professionals without the amazing support of our members. In each of the 5 main capital cities we are lucky to have amazing volunteers who will give up their Saturdays to set up our FX info stall, to talk to thousands of
A big team of volunteers made this happen in 2019!
These partnerships allow us to take advantage of opportunities to increase awareness of Fragile X to thousands of health and other professionals.
Meet Karen Lipworth Karen joined the Board of FXAA at the Annual General Meeting in October 2019. Karen was born in South Africa and moved to Australia when she was 8 years old. Since moving Karen has lived mostly in Sydney with short stints in both the UK and the US for work. Karen is a qualified veterinarian who currently works in the pharmaceutical industry. After many years of vague signs Karen discovered she had developed premature ovarian insufficiency. After seeing a few specialists she finally discovered that this was caused by the Fragile X premutation when a specialist did a large genetic screening test. Since that time Karen has been passionate about raising awareness of Fragile X, especially within the medical profession and looks forward to utilising her medical background and skills as part of the Board. In her spare time Karen stays active with the gym and enjoys catching up with friends over a good meal and a wine or two! Page 5
The short documentary film Stuart X tells the story of one of my brothers, Stuart. He was born in 1957, before Fragile X was identified, and suffered 45 years of mismanagement, institutionalisation and abuse. Of the 13 people in my immediate family impacted by Fragile X, he has had the hardest journey. Stuart’s family has told his story in the hope and expectation that it will raise awareness about the widespread need for better diagnosis, understanding and services for people with an intellectual disability. They need us all to speak up for them!
The past has had serious consequences and we all still struggle to manage his behaviour but with one-on-one care, from people who understand him, he is pretty happy. He attends workshop 3 days a week, goes ten pin bowling 4 or 5 times a week, goes to the ‘club’ twice a week, loves music therapy and goes to Tamworth Country Music festival every year. Stuart sees and talks to family members on a regular basis, now that he is in Sydney.
I wish to thank Thibault Upton for his very sensitive direction of Stuart X. Thibault has been involved in telling Fragile X stories through film for several years now. My son Marty was part of the “Working with Fragile X” film Stuart spent 45 years in NSW mental hospitals, even though which Thibault directed in 2015 and which profiles the he did not have a mental illness. His behaviour was often difficulties faced by people who have Fragile X syndrome in challenging, and the predominant way this was handled was securing open employment. by prescribing more drugs. In 2007, Dr Jane Law at the North Ryde clinic of the Royal Rehab Private Hospital My sincere thanks to Cate Blanchett for her generous convinced us that Stuart would be much better off outside of support in narrating Stuart X. Her willingness to come on board with the film is very heart warming. the institutional environment. A very big thank you to my two brothers, Ross and Philip Iredale, who have been such an important part of Stuart’s transition to an Achieve Group Home and journey since then. A range of other people have been very significant in this process, especially some of his carers from Achieve.
I would also like to thank the Fragile X Association of Australia for making the film happen. Their ongoing contribution to increased awareness in the public arena of Fragile X-associated disorders, and in working to ensure
early diagnosis, has been invaluable for many of us. Stuart’s story demonstrates what can happen without this knowledge.
Dr Jane Law has continued to monitor Stuart on a yearly basis and this has led to him quitting smoking, reducing his drug intake and ensuring he is physically healthy.
Robyn Iredale Stuart X was written and directed by Sydney-based film maker Thibault Upton, narrated by Australian Academy-Award winning actor Cate Blanchett, and produced by Judith Lenart, former Board member of Fragile X Association of Australia.
Stuart X was released publicly online on 3 December, which is the UN-sanctioned International Day of People with Disability. The audience of Stuart X is global, and by mid December the film has been watched by around 30,000 people.
Prior to its public release, Stuart X was selected for screening in film festivals in Australia and internationally, and won awards for Best Documentary and Best Director.
Many thanks to the film’s sponsors: investment & wealth management firm Shaw and Partners and the Kelleher family.
Watch Stuart X online from our website: Page 6
www.fragilex.org.au
Classroom Adjustments to Support Students with Fragile X Podcast!
Jimmy Jones This new podcast discusses adjustments teachers can make in the classroom to support students who have Fragile X syndrome. It features paediatric occupational therapist Bev Kadish, Ballarat school student Jimmy Jones, his teacher Jack, and Jimmy’s mother Sarah Jones. The 25-minute podcast was released in November 2019 . It’s one in a 20-part series that highlights adjustments that can be made in the classroom to enable students with disability to access and participate in education on the same basis as their peers.
Bev Kadish
The series was commissioned by the Victorian Department of Education and a federal government initiative, NCCD. Fragile X Association was approached by the podcast producer to identify a family and an expert to take part in the podcast. Many thanks to Jimmy, his teacher Jack, Bev Kadish from Fragile X Alliance, and of course Jimmy’s mother Sarah Jones for being happy to be involved! This podcast will be a fantastic resource for teachers and parents.
From the podcast: Top 5 takeaways on classroom adjustments 1. Students with Fragile X syndrome are likely to have communication and comprehension barriers. So, it’s important not to rely solely on verbal interactions and instructions. Visuals are an effective tool that can assist with learning. Use visual schedules on a daily basis to outline key things that will take place throughout the school day, from what subjects will be covered to scheduled bathroom breaks. Preparing students for upcoming transitions can help to reduce their anxiety. Also, visuals can be used to outline step-bystep instructions so students can see what they need to do next.
4. Most students with Fragile X syndrome will have some level of difficulty in sensory processing. It is important to do an environmental check of the classroom and take steps to reduce levels of noise and visual overload. Further to this, ensure that the student is not seated in high traffic areas, such as near doorways or open windows. Also, position them away from air-conditioners and heaters and if required, provide the student with noise-cancelling headphones.
5. Students with Fragile X syndrome may experience anxiety. To help reduce anxiety levels, allow the student time to regulate their 2. When giving instructions, show students what you emotions and provide a safe space in which they want them to achieve. Once you show them the can self-regulate. end result and they can see the bigger picture, chunk This might involve sitting on a bean-bag or some the task into small segments and cushions, or sitting inside a small tent, a large box, or demonstrate how to get the same outcome using a a quiet corner of the library. Some students may want checklist. Give one-step instructions and cross off to play with sensory items or listen to music. Allow each item from your list as the student completes the them to choose the activity that is going to help them corresponding task. Before moving on to the next settle down, but set time limits, so they know when task, allow the student adequate time to they are expected to return to the process your instructions, as students with Fragile X learning environment. syndrome may require extra response time. 3. Students with Fragile X syndrome may find handwriting difficult. To help build basic handwriting skills, you can different strategies, such as using modified pencils with stoppers at the end or the co-active writing technique, where students place their hands over the top of yours while you guide them through the letters. You can also use sensory tactile techniques where you might ask the student to write letters in something like shaving cream.
TO ACCESS THE PODCAST: https://www.nccd.edu.au/professional-learning/ classroom-adjustments-fragile-x-syndrome OR
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www.fragilex.org.au
Meet Adam Lawrence-Slater Adam Lawrence-Slater joined the Board of Fragile X Association of Australia at the Annual General Meeting in October 2019 and was elected Treasurer. Adam lives in Sydney with his wife Charlotte and their 12yr old son Joshua who was diagnosed with Fragile X and Autism when he was two. The Fragile X Association helped Joshua access the services he needed when he was initially diagnosed and has supported the family at different times in the past ten years. Adam has a long family history in disability services, with his mother working as a Physiotherapist at the Spastic Centre (now Cerebral Palsy Alliance) and his father building wheelchair seats and other equipment in his spare time. Adam is a passionate disability advocate and would like to help improve the outcomes of people in the Fragile X community and the effectiveness of the NDIS. This year Adam started in a financial planning and insights role at Hireup, an NDIS online platform that enables people with a disability to find the right support workers for them. After completing a Bachelor of Economics degree Adam worked at Qantas for 24 years in commercial planning, strategy and operational roles. He enjoys taking the dog (Snow – Labrador) to the beach with the family, golf, skiing, and travel.
Good Health Access for People with Intellectual Disability The Council for Intellectual Disability has recently updated its ‘Healthier Lives” fact sheets. These have been written to help the people who are supporting people with intellectual disability to understand health issues and navigate the health system. They are aimed at family members, health professionals, advocates, support people and disability workers, to help address some of the barriers faced by people with intellectual disability in getting access to health care. 30 Fact Sheets on Topics including: Adults—signs of illness Ageing and health End of life care Annual health assessments Preventive health Dental care Challenging behaviour and health Mental health Sexuality Helping the doctor understand the person Personal health records Consent to medical treatment You can download all topics in one file, or download each of the 30 fact sheets individually.
DOWNLOAD OR READ ONLINE: https://cid.org.au/resource/health-fact-sheets/ Page 8
Achievement Awards Each year the Fragile X Achievement Awards inspire and encourage those nominated, and their family and friends, and are announced at the Annual General Meeting.
Achievement Awards Daniel Cox - school and work placement Jamieson Whiteley and Montana Whiteley - excellence in sport Jeremiah Good - supporting his siblings and raising awareness of Fragile X Patrick Rasmussen - growth in confidence and participation in musical performances Rosie Donald - taking on the challenge of new ventures.
This year’s Awards:
Encouragement Awards Andrew Brown, and Aliyah Kenny for success in their best efforts.
Patrick Rasmussen At the start of this year Patrick was enrolled at a dance studio to have a go at Musical Theatre since this seemed to be an area which he enjoyed participating in with performing school shows over the years. The last few school years had seen Patrick excel and thoroughly enjoy performing, singing and dancing. He has really matured and channelled his coping skills with the stimulation of the environment. Patrick’s mother Sharon says: “When I made enquires to the studio to see whether they supported special needs, I was greatly surprised by the enthusiasm and learnt that they also had a 24 year old high functioning autistic man who had been affiliated with the Studio for 4 years already. Once we trialled with the Studio, I knew that this was something that Patrick would enjoy. It is now the highlight of his week which he looks forward to each day of the week! They recently performed Grease the Musical where he was a T- Bird in the ensemble. Patrick continues to thrive and mature and expand his confidence and he certainly feels a sense of belonging and self worth from this activity, and he worked hard getting ready for the end of year production which is from Hairspray! The studio also won local business awards this year.” Patrick will the taking his performing talents to Orlando Florida in 2020 for a Dance Tour to perform at Disney World, Universal Studios and on a Carnival Cruise ship! Everyone is excited about this one!!!
Jeremiah Good Jeremiah, aged 11, is the eldest of 5 children of Jim and Melinda Good. He has 2 brothers who have Fragile X syndrome and is a wonderful big brother to all of his siblings. Over the past 18 months he has been working on the idea of designing a tshirt that he could sell that would raise awareness of Fragile X, but also raise money for Fragile X Association of Australia With a great design that he created and help from Liz Jewell, he finally realised his dream! He has recently received his first batch of printed tshirts and some interested parties ready to purchase. Jeremiah’s parents, Jim and Melinda, say they are proud of him and his beautiful heart!
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Montana Whiteley
Jamieson Whiteley Montana Whitely, aged 20, and Jamieson Whiteley, aged Their determination, perseverance and commitment to 21, were nominated for excellence in sport. their sport is commendable. Both Montana and Jamieson were selected for the Australian INAS Global Games Cycling Team in Brisbane 2019: Montana in the Women’s distance 30km, and Jamieson in the Men’s 95km!
Their Fragile X Achievement Awards were recognised at the Sport Inclusion Australia Event (as pictured) and Montana and Jamieson were congratulated for sporting excellence.
Daniel Cox Daniel was nominated for an Award by his parents: “Daniel graduated year 12 at Albion Park high School in September. Even though he is not sitting the HSC exams we are extremely proud of his achievements. Daniel remained at school until the end of the year, which has made him very happy. Daniel has grown so much during his high school years through the great support of the teachers in the Support Unit. Daniel’s love of life and his ability to see good in everyone is inspiring, he has the best smile and the most contagious laugh. We are so proud of him and look forward to what the future can bring. Daniel has participated in the Southern Stars Spectacular for the past 3 years showing a dramatic increase in his confidence. He has had the opportunity to do work experience in a local pet store where he helped feed animals, weigh food and clean out the bird cages. Daniel has also done work at experience at a local Auto and Tyre work shop, where he helped to move tyres, clear boxes and other tasks with supervision. We would also like to acknowledge the Support Unit teaching staff at Albion Park high who have guided Daniel’s learning and built is confidence is so many areas. They truly an amazing group of teachers and support staff. They not only made Daniel welcome to the unit but also us as parents. We are very grateful for all they have done, there are not enough words to thank them, especially Mrs Campos.
We would also like to acknowledge Steve Danic and his amazing team at Danic’s Auto and Tyre in Albion Park. They provided an opportunity for Daniel that given him so much joy, pride and confidence. The acceptance, patience, guidance and support they all gave him is so heart-warming and has made a huge impact (positive) on Daniel and us as parents. They taught him things that can’t be taught at home, they treated him like one of the boys and he walked out every Friday with a huge smile and sense of belonging. We will forever be grateful to them all.” Tina Cox
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Rosie Donald Rosie has had an amazing journey to become the dynamic young woman she is today. School was difficult and other experiences would have knocked many people over. However, Rosie has picked herself up and grown stronger and stronger. She has tried her hand at a few jobs but has now found her niche. She has been working part-time with children at the Australian Museum for the last 2 years, a job that she has really loved. Rosie has now commenced TAFE Certificate III in Early Childhood Education which will take a number of years to complete. Rosie is also an accomplished make-up artist and an expert behind the video camera. She has participated in international conferences on both. She has travelled alone both overseas and within Australia and has demonstrated extraordinary courage in doing this. On a number of occasions the FXAA has benefitted from her skills. She has assisted with IT and social media, volunteered at Bridge to Beach paddle races, starred in the first movie about finding employment and in many other ways. She is a bonus to the Association!
At the FXAA Annual General Meeting: Rosie with Dr Cynthia Roberts and Prof Ted Brown
I am nominating Rosie for her perseverance and her capacity to challenge herself with new and exciting ventures and activities. - Robyn Iredale
Research Matters Dr Anna Donald Gift An important donation has been made to advance research into developmental disorders including Fragile X syndrome. Dr Anna Donald became a leader in evidence based medicine (EBM) following her medical studies commenced at Sydney University and completed at Oxford on a Rhodes Scholarship. She established a ground breaking company, Bazian Limited, providing EBM services within UK and internationally. Anna tragically died from cancer in 2009. Bazian subsequently became the health information division of The Economist Group.
Janet has concluded an agreement for a 5- year substantial annual gift to be known as the Anna's mother Janet Donald has looked for a beneficiary Dr Anna Donald Gift. for her proposed gift to recognise Anna. Janet's work Bruce Donald with Penny Figgis and Rosie Donald with Sydney University, most recently as Deputy reported the Gift to the AGM of the Fragile X Association President of the Alumni Council, brought her in touch of Australia in October where the news was with the Brain and Mind Centre and Dr Michael Bowen to enthusiastically received. whom the Council awarded the Cornforth Medal for research excellence. Prof Ted Brown, FXAA President, was introduced to Dr Bowen by Janet (all pictured above, with When talking to Dr Bowen recently, whose work covers Charly Brown from the University’s Division of Alumni developmental disorders, he noted that his field of and Development). interest covered Fragile X syndrome. Because of her knowledge and understanding of the Syndrome through the Donald/Figgis family, Janet decided that the Centre would be an appropriate beneficiary, specifying a preference that the Gift be applied to Dr Bowen's research.
The Dr Anna Donald Gift will significantly assist research into the full range of developmental issues which is fundamental to and in recent years has seen major advances.
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Understanding the Costs to Families of Raising and Caring for Children and Adults who have Fragile X syndrome Fragile X research study— still open As part of a national study at Murdoch Children’s Research Institute, Dr Emma Baker aims to estimate the costs associated with raising and caring for children and adults with Fragile X syndrome at different ages. These are costs to families and to the Australian government and include costs of: of medical services, medications, education, housing modifications, accommodation and care assistance.
Emma says: “It is anticipated that each questionnaire will take 5-10 minutes of your time and all responses are anonymous. This information will be beneficial for us to understand the costs associated with raising and caring for an individual with Fragile X syndrome, and the costs associated with supporting families when the diagnosis is made early (eg, in infancy). Ultimately, we hope this information will provide evidence that may be used to support introduction of newborn screening for Fragile X.
Two Questionnaires This study was announced in the June Fragile X newsletter, and a number of families have completed the two short online questionnaires.
We thank you in advance for your time.” If you have any questions regarding the questionnaires please contact Dr Emma Baker on 03 8341 6245 or emma.baker@mcri.edu.au
Emma is hoping that more families can help with this research by taking 5-10 minutes to complete two short online questionnaires. They cover: (1) EQUIPMENT that has been purchased for the independence and safety of the child or adult with Fragile X syndrome LINK: https://redcap.mcri.edu.au/surveys/?s=7DJY8NMCKN (2)
HOME MODIFICATIONS that have been made in order to make the family home more accessible and safe for the child or adult with Fragile X syndrome.
LINK: https://redcap.mcri.edu.au/surveys/?s=LDRCFMKJKF
Dr Emma Baker
Links to the surveys are also on the FXAA website: www.fragilex.org.au/understanding-fragile-x/research/
The questionnaires also ask about funding and estimated costs of the equipment and modifications.
Extension of trial enrolment—CONNECT-FX: Clinical Study of Cannabidiol (CBD) in Children and Adolescents This international trial will test the use of medicinal cannabis transdermal gel vs a placebo as a treatment for anxiety in children with Fragile X syndrome. Participant recruitment is open at some trial sites until mid January 2019. Three sites in Australia are involved: Dr Honey Heussler Queensland Children’s Hospital Brisbane Dr Natalie Silove Westmead Children’s Hospital Sydney Dr Jonathan Cohen Fragile X Alliance Clinic Melbourne
More info: https://www.connectfxtrial.com/
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The Risk of Potential Development of Fragile X-Associated Tremor Ataxia syndrome. Research Study— continuation The invitation by Dr Danuta Loesch to participate in a comprehensive study of Fragile X premuation carriers remains open. Dr Loesch is a neurologist and geneticist from Latrobe University in Melbourne. Dr Loesch and her team are seeking to understand the fundamental issue of why some Fragile X premutation carriers develop FXTAS as they get older, while others remain unaffected by FXTAS. Dr Loesch and the team are seeking further participants to be involved in the study. Potential participants in the study Fragile X premutation carriers who are :
What the study involves The study involves a medical history review, neurological and memory testing, MRI brain scan (optional), and collection of a blood sample. Dr Loesch says: “The testing takes about 3 hours and is free of charge. The testing may take place in your own home. Prof Elsdon Storey and I can travel to visit participants who are unable to travel to Latrobe University. “ Dr Loesch thanks all of the participants who have been part of the study to date, and is hoping that many more people who are Fragile X premutation carriers over the age of 60 will consider taking part in the study.
For more information about the study: 1. Men or women over the age of 60 who do have neurological problems especially imbalance Dr Danuta Loesch: (unsteadiness) and or intention tremor (shaking) 2. Men over the age of 60 who do not have balance or Phone: 0407 687 145 or 03 9479 1382. tremor issues. Email: d.loesch@latrobe.edu.au The aim is to identify biological markers that determine the risk and the rate of progress of these abnormal conditions and consequently possible factors protecting a Fragile X premutation carrier from the development of neurological problems associated with FXTAS.
For more information about FXTAS: https://www.fragilex.org.au/fxtas/
FXTAS Clinics In Australia two neurology clinics are focussing on premutation carriers who have developed symptoms of FXTAS, or believe they are at risk of developing FXTAS. Neurologists A/Prof Stephen Tisch and Dr Sam Bolitho from St Vincent’s Hospital in Sydney have been seeing FXTAS patients since 2016.
FXTAS Clinic Caulfield Hospital 260 Kooyong Rd, Caulfield
FXTAS Clinic Movement Disorders Clinic 390 Victoria St Darlinghurst
Fridays 9am-1pm Phone: 03 9076 6800
Last Monday of a month 2:00pm-4:00pm Phone: 02 8382 3115 Dr David Szmulewicz
GP referral to: Dr Stephen Tisch
GP referral to: Dr David Szmulewicz
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Dr Samuel Bolitho
Fragile X Association of Australia Board 2019—2020 The Annual General Meeting was held in our office in Brookvale on 27th October 2019. The AGM was well attended with members dialling in via video conference and many in person. It was terrific to see all the families who attended. We welcome the two new directors were elected to the Board: Adam Lawrence-Slater and Karen Lipworth. Prof Wm Ted Brown MD, President Prof Brown is the retired director of the NY State Institute for Basic Research in Developmental Disabilities. Much of his 35-year research career has focused on Fragile X syndrome and autism. Prof Brown relocated from the US to Australia in 2017, and is based in Sydney. He joined the Board in 2018. Adam Lawrence-Slater, Treasurer Adam works in a finance and strategy role in the disability sector. He is a passionate disability advocate and would like to help improve the outcomes of people in the Fragile X community and the effectiveness of the NDIS. Adam lives in Sydney with his wife Charlotte and their 12 year old son Joshua who was diagnosed with autism and Fragile X syndrome at the age of 2. Graham Hook, Secretary Graham spent the majority of his career in the Air Force and is now a defence industry manager. Graham’s adult son, James, is affected by Fragile X syndrome. Graham also volunteers with Special Olympics Queensland. He rejoined the Board in 2016, and has served in several roles including Vice-President and President. Graham is based in Brisbane. Katherine Brown, Director Katherine is in the finance industry and has a young son, Andrew, who has Fragile X syndrome. She is a keen runner and has raised funds for Fragile X Association through running and other events. Originally from the UK, Katherine is now based in Adelaide. Katherine has served on the Board since 2015. Mike Tozer, Director Mike is the founder of Xceptional, a technology services firm that employs people with autism, and co-founder of Fragile X Hong Kong. Originally from the UK, Mike and his wife Helen are based in Sydney and have two children; their son Josiah has Fragile X syndrome. Mike is very active in raising awareness of Fragile X through participation in elite running and fundraising events, and in the media. Mike has served on the Board since 2016. Kate McKeand, Director Kate is a disability advocate and mother of two children who have Fragile X syndrome. She is director of a consulting organisation specialising in supporting and empowering participants in the NDIS, and has represented families of children with disabilities on a number of consumer and advocacy bodies. Kate joined the Board in 2018. Wayne Pointon, Director Wayne has held senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. Wayne and his wife Lisa have three children, including twin boys, one of whom has Fragile X syndrome. He is based in WA and joined the Board in 2018. Karen Lipworth, Director Karen is a qualified veterinarian currently working in the Animal Health division of a pharmaceutical company. Prior to moving into industry Karen worked as a veterinarian in small animal practices both in the UK and in Australia. Karen has the fragile X pre-mutation and is passionate about raising awareness of Fragile X, and the premutation amongst the medical profession. Karen is based in NSW and joined the Board in 2019. Page 14
Sincere thanks to everyone who has supported Fragile X Association of Australia throughout the year by way of donations, fundraising and through other financial and inkind support. It is this funding and support which make it possible for us to staff the Fragile X Help Line 5 days a week and to offer provide information, support, counselling and referrals to the Fragile X community and the hundreds of people who contact us each year. For the past 10 years the members of the Lodge Ku-ring-gai have supported the Galston Garden Club’s annual Open Gardens weekend, joining the club members and other groups in manning the garden gates, collecting entry tickets and all of the work needed to make the event a successful fundraiser for recognised charities.
Sue Montgomery (President of Galston and District Garden Club), Graham Piper and Columbus During (Lodge Ku-ring-gai) presented a $6,000 cheque to Wendy Bruce.
In early December the Garden Club donated $3,000 of the proceeds of the Open Gardens event to Fragile X Association, to which Masonicare applied an InterActive Grant matching this. The Garden Club and Masonicare have collectively raised close to $50,000 for Fragile X Association over the past 10 years through funds raised by the Open Gardens event! Many thanks to Trish and Graham Piper for initiating this support, in honour of their great-nephew James Hook.
A shoutout to the Year 4 students at The Hutchins School in Hobart! The boys take part in a program called Lap it Up, where they seek sponsorship from parents and friends for the number of running laps they complete, and then donate the funds raised to a charity. In December the boys chose to make a donation to Fragile X Association in support of their younger schoolmate Vinn. (See Vinn on the front cover of this newsletter!)
Fragile X Association was recently awarded a Qantas Side by Side Community Grant. The Grant provides $9250 which is to be used to develop some short videos and podcasts on supporting the learning style and daily living challenges of children and adults who have Fragile X syndrome. These resources will be made over the coming months and then made available through the Fragile X Association website and social media. Many thanks and Congratulations to Qantas employee and FXAA member Sharon Rasmussen for applying for the grant!
Many thanks to the Brookvale (Sydney) branch of the Commonwealth Bank. The branch staff nominated FragileX Association to receive a CommBank Local Community Donation for “making a difference in our community.“ The Branch Manager Mary Pearson called in to present the cheque to our Family Support Counsellor, Liz Jewell. Page 15
Supporting the Fragile X Community Help Line: 1300 394 636
Our Helpline operates 5 days per week 9:00am – 5:00pm EST Family support counselling and referrals Information resources Comprehensive website on Fragile X disorders, including videos Social media, including Facebook discussion groups Workshops and seminars Awareness raising and educational activities
Contact Us for Information or Support
Liz Jewell Family Support Counsellor
Wendy Bruce Executive Director
Monday, Tuesday, Thursday liz@fragilex.org.au 1300 394 636
Monday—Friday wendy@fragilex.org.au 1300 394 636
Help Us Make a Difference Fragile X Association of Australia is a registered charity, funded by donations and fundraising. Donations of $2.00 and over are tax deductible. Your donation will help us to provide support to the Fragile X community and to increase knowledge and understanding of Fragile X disorders.
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Donate online: www.fragilex.org.au Regular donations
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Registered office of Fragile X Association of Australia Inc: Suite 204, 20 Dale Street Brookvale NSW 2100 1300 394 636 ABN 18 655 264 477 ARBN 626 478 966 Page 16