FX Info newsletter June 2019

June 2019 History in the Making Family Stories Research Studies Current Drug Trials FX Awareness Month!

and more‌...

Jimmy

Fragile X Association of Australia was founded as a national organisation 30 years ago in 1989. It evolved from state-based family peer support groups which had been founded from the 1970’s, to further their support work and promote education and awareness of Fragile X syndrome and its related conditions. A committed group of volunteer Board members undertook the considerable work needed to set up the organization as a legal entity and subsequently to secure our status as Deductible Gift Recipient (Australian Taxation Office) and registered charity (Australian Charities and Not-for-profits Commission). Those solid foundations have ensured the longevity of this organisation and our capacity to provide ongoing support to the Fragile X Community and to continue to raise awareness of Fragile X and advocate for early diagnosis.

VOLUNTEERS are critical to the reach of this organisation. We have Board members in 5 states, and a big group of committed volunteers who are involved in so many ways: representing Fragile X at medical conferences, fundraising, supporting our social media presence, designing graphics and communications material, providing pro bono legal and accounting services, arranging events, and even lighting Australia orange for FX awareness month.

Too many people to name, but we are so thankful for their dedication, and inspiration! National Volunteer week in early May was a great opportunity for us to show our appreciation and send certificates of thanks.

A small group of families and supporters have been involved since the founding 30 years ago, and have maintained strong commitment and involvement over that time. The Cunningham family has been a major contributor and supporter. We were thrilled to learn that Mr John Cunningham was recognised in the Queen’s Birthday Honours list on 10th June, and congratulate him on his appointment as a Member of the Order of Australia (AM) for significant service to the community, including his support of Fragile X Association. Mr Cunningham has initiated some of our significant projects, including our work in raising awareness of Fragile X in the medical community, and was responsible for the establishment of the FX premutation carrier/FXTAS clinic at St Vincent's Hospital in Sydney.

This award is an important acknowledgement of Mr Cunningham's support of a range of philanthropic commitments over many years.

Wendy Bruce Executive Director

History in the Making, and 30 Years On Margaret Cunningham was part of the first Fragile X “Discovery Group” in the 1970’s, which was comprised of a group of families whose children all had an intellectual disability of unknown cause.

Whilst Margaret and her husband John knew something was significantly different about their son’s development and behaviours, and despite seeing numerous specialists over the years, the cause of his intellectual impairment was not known.

That is until she met Prof Gillian Turner AO, a leading international researcher, in both clinical and genetic aspects of X-linked intellectual disability and particularly Fragile X syndrome. As a pro-active member of the Fragile X discovery group, Margaret engaged regularly with Dr Turner and her research which later confirmed the diagnosis of Fragile X syndrome for Margaret's son.

They worked together on a key publication in 1985.

Margaret Cunningham and Prof Gillian Turner Subsequently, Dr Turner and Prof Grant Sutherland were instrumental in the discovery of the Fragile X gene almost 30 years ago.

Margaret was pro-active and decided to help those who needed help. She became the founder of Eastern Respite and Recreation organization in Sydney which grew to 30 employees and 150 volunteers. Margaret served as President of ER &R for 19 years and was made a Life Member.

When she discovered that she and her children were affected by Fragile X, she co-founded with others what is now the Fragile X Association of Australia. Quite separately from her husband, John, Margaret has been a significant donor to the Fragile X Association, which also made her a Life Member of the organisation.

Professor Turner and Margaret had an excellent rapport in those early Fragile X discovery days and continue to do so to this day. Stay tuned for news of another collaborative project they are working on!

Page 2

30th Birthday of Fragile X Association of Australia Helping to acknowledge and celebrate our 30th birthday, some creative members are working on some familyfocused projects!

Vanessa Lindsay is the creative spirit behind Fragile X in one word—a short video to celebrate living with Fragile X. Online in July!

Dance video! Say, Geronimo Nyleta McRae is working on a family dance video, set to the sound track Geronimo, by Brisbane-based band Sheppard.

Nyleta will make a 3-minute video of families jumping and dancing, for sharing on social media.

Get involved!

Record a 1-minute video of your family having fun jumping and dancing! Send it in to us, and Nyleta will use a few seconds of footage from each family, to compile a fun dance video to celebrate living with Fragile X. More details: on our website and social media soon!

New website coming soon!



Information easier to find



New family stories



Current research participation opportunities



Online membership signup



Online donations to support Fragile X Association of Australia



Mobile friendly

Many thanks to

Page 3

for sponsoring our website upgrade www.fragilex.org.au

July—Celebrating Fragile X Awareness!

Each year, July is Fragile X Awareness month in the US, New Zealand and Australia, and July 22nd is Fragile X Awareness Day. It’s a great time to celebrate and help raise awareness of Fragile X. Lighting Up! This year we’re looking forward to another festival of orange across Australia, as buildings in major cities are lit in our signature colour. Huge thanks to Rebecca Mercuri, Graham Hook, Nyleta McRae, Vanessa Lindsay and Shane Lyons for making this happen! To name just a few of the landmarks lighting up orange: Melbourne’s Royal Exhibition Building and AAMI Stadium; Brisbane’s Story Bridge, Victoria Bridge, Treasury and Mt Coot-tha Dome; the Stadium in Adelaide; Old Parliament House in Canberra; Launceston Town Hall!

Social Media Look out for new Fragile X posters, some new images for raising awareness of Fragile X, and the new “Make an X Campaign” which Rosie will kick off for us.

Ribbons and Wristbands If you’re planning to hold a Fragile X day or event let us know. The orange lapel ribbons and wristbands bring a great touch of orange! Contact us for details: 1300 394 636 Fragile X Family Films Look out for Fragile X—a short film profiling the stories of Zak & Ben, Tom and Zach.

Online from 20 June for viewing and voting! Another short film, Stuart X, will be screened at the Melbourne Documentary Film Festival at Cinema Nova, Carlton, on 21st July.

May and Ross: X!

Lighting Up!

Story Bridge, Brisbane

Launceston Town Hall

Fragile X Community Day Brisbane Saturday 20th July Nyleta McRae and her team have arranged another Fragile X Community Day in Brisbane!

7th Brigade Park, Chermside Saturday 20th July, 12pm-5pm

Page 3 Page 4

A fantastic day out with activities for all!

Jumping castle, Holt Bolt obstacle course designed for children with special needs, sensory jewellery, Fragile X Tent, face painting, sausage sizzle, and more!

Family Support Role Family Support is available to all people in the Our Fragile X Helpline 1300 394 636 operates 5 days a Fragile X community and can be accessed and provided week from 9am-5pm with a message service outside of in a number of ways – office hours.

Email: liz@fragilex.org.au I take Helpline calls 3 days a week, and Wendy assists.

Phone: 1300 394 636 Face to face – either via skype for example or, if in Sydney, in person.

Family Support Counselling is available Mon/Tue/ Thurs 9am-5pm.

It’s often helpful having someone to talk to about an issue that’s concerning you without judgment and in confidence. Talking through concerns and exploring options can often help relieve stress and add clarity to difficult situations.

Another aspect to the Family Support Role is attending seminars, expo’s and conferences to help raise awareness and provide information on Fragile X. It’s also an opportunity for me to meet with families, individuals and health professionals in person.

I’m looking forward to catching up with families in Brisbane at the Source Kids Disability Expo and at the Fragile X Fundraiser High Tea in Launceston in July.

The Helpline is available so that we can respond to any queries or concerns relating to all aspects of Fragile X. You may have a question related to health, education or wellbeing. You may be seeking information on Fragile X conditions to take to your GP or other health professional. You may be seeking referral information for genetic counselling, information about how to be tested for Fragile X. You or a family member may have recently been diagnosed. You may be wanting to be put in touch with others in the Fragile X community.

We can provide you with a range of information resources on Fragile X-related topics.

Helpline 1300 394 636 or support@fragilex.org.au

Liz Jewell

Wendy and I were thrilled when Mary Wilson called in to the office to deliver to us two hand-stitched patchwork quilts, which she has made. Mary and her husband Martin had travelled from Victoria to Sydney to see Anne-Maree and her family, and called in to see us too. Mary has asked us to donate the quilts to families in the FX community who would enjoy them.

Page 5

I’ve recently had the opportunity to speak with several teachers who have students with Fragile X syndrome and were wanting information on the supports that will ensure their students’ learning and behavioural needs are met. I’ve been able to provide that information and some guidance in person, and via skype.

If your school or pre-school is interested in understanding more about how to support a student with Fragile X, please get in touch with me.

- Liz Jewell, Family Support Counsellor

Raising Awareness of Fragile X

Christine Kelleher and Prof Ted Brown (far right) were invited to participate in a genetic carrier screening discussion panel at the University of Sydney in May. The forum was attended by graduate medical students..

Christine Kelleher presented to Disability Studies students from the Australian Catholic University Strathfield campus in April.

Online Q&A session with Masters of Genetic Counselling students from UTS in April.

Liz Jewell, Vanessa Lindsay, Christine Kelleher and Prof Ted Brown were online for the students.

Increasing awareness and understanding of Fragile Xassociated conditions in the medical community continues to be an important priority.

In 2019 our focus is on increasing awareness of reproductive carrier screening, in particular for Fragile X syndrome, Cystic Fibrosis and Spinal Muscular Atrophy.

We’ve partnered with Spinal Muscular Atrophy Australia and Cystic Fibrosis Community Connect Vic/NSW to have a joint presence at Healthed conferences, with material developed by Victorian Clinical Genetic Service.

We’ve had an exhibitor table and satchel inserts at the Women’s & Children’s Education Days in Adelaide in May, and Brisbane in June, with much interest from the GPs and nurses at the events.

Many thanks to Healthed for their continued support.

Page 6

Rebecca & Liz Our Fragile X table at the Source Kids Disability Expo held in Melbourne in March.

Liz Jewell was able to catch up with some of the Fragile X families ( including Rebecca Mercuri!) whilst minding the stall and met a number of disability providers and therapists interested in Fragile X syndrome.

Family Short Stories on Film Thibault Upton is a young film maker who has recently filmed and directed two short films about the Fragile X journey of several families.

Fragile X is the first to be released. A short documentary, it tells the family story of Zak and his twin brother Ben, from WA, Tom, from Brisbane, and Zach from north Queensland. Fragile X has been selected to premiere in the Focus on Ability short film festival this month. It will be available to watch online—and for online voting! - from June 20th. A second film, Stuart X, will premiere at the Melbourne Documentary Film Festival in July.

Thibault is from the Northern Beaches of Sydney, not far from the Fragile X Association of Australia home base.

He first worked with us on our Working with Fragile X film which profiled the challenges faced by several young adults with Fragile X who were seeking work in the mainstream. Thibault is very keen to help us share Fragile X family stories, and to help us raise awareness of Fragile X in the community. And from the photos below, he has been making friends as well as films!

Many thanks to the Pointon, Mikkelsen, Roberts and Iredale families for being involved in these films.

Thibault with Zak & Ben

…. with Tom …. with Zach!

Many thanks to the sponsors of the two films Fragile X and Stuart X

Kelleher Family

Vote for Fragile X! A short film about Zak & Ben, Tom and Zach Online voting for entries in the Focus On Ability Film Festival opens on 20th June.

We’ll be posting links to the voting page on www.fragilex.org.au and our social media.

Rules: One vote per person in each category.

Any person from anywhere in the world can vote.

Please share the link to friends and family!

Voting closes 3 July. Winners announced 6 September 2019 Page 7

Damon starts a New Job! Damon lives in a small rural town with his father Michael, mother Elaine (Fragile X carrier ) and older brother Tyson. For many years his parents knew something was not quite right and struggled to get a diagnosis, taking Damon to many pediatricians before finally getting a diagnosis through Randwick Children's hospital in Sydney confirming Damon has Fragile X syndrome.

At that time they valued the support from the Hunter Genetics team, Carolyn Rogers and Prof Gillian Turner.

They made frequent home visits and conducted further testing on extended family members.

The diagnoses was eye opening and introduced the family to the world of countless therapies. Elaine and Michael found it so hard and at times felt like giving up.

There were so many challenges along the way but despite the mounting pressure, the family knew they had to keep moving forward to help give Damon the best opportunities and maximize his ability. They made regular trips to Sydney every 6 months, attending up to 14 appointments in 4 days. Whilst Mum and Damon were in Sydney Dad kept things going at home for their other son busily attending school and sporting commitments.

They don’t pretend that there haven’t been a few hiccups along the way but as parents they are guiding him and trying to allow him to do things for himself.

Since commencing work, the Petries hardware store Manager Darren has been genuinely supportive and made contact with Elaine and Michael when necessary.

This has reassured them that Damon is totally supported in the work environment.

This act of kindness is all the more appreciated as they admit “you never stop worrying about your children especially if they have a disability.”

From their perspective, knowing they have done everything they can to help Damon reach this biggest achievement and where he is today is everything to them.

Damon has been working at Petries for the past 4 months and is happy to get up every morning and drive to work.

He is so proud to wear his uniform every day with his name embroidered on it and is thrilled to be part of the team.

Damon’s parents are so happy that he is contributing to society and making friends along the way.

Elaine and Michael are very appreciative to Angel Flight who supported them with a total 35 flights over the years enabling them to attend the numerous therapy session between pediatricians, speech therapist and OT’s.

They received great support from Fragile X Association, which was based in Manly at that time.

Damon achieved a Higher School Certificate at his local school with life skills and invaluable support from the teacher and teachers’ aides.

After finishing school Damon faced another challenge which was securing a job. He was determined to seek work in the same way he observed his parents and brother in the workforce, so he applied for a job at Petries Hardware in his local town.

Armed with determination and with the unconditional support of his family he sat before an interview panel of 2 people. Understandably he felt very nervous having never experienced an interview situation before.

When asked by Darren, the Manager, why he wanted the job, Damon's response was clear "I'd like to get off my disability pension." This then lead to a further question from Darren: “What is your disability?” To which Damon responded "Fragile x syndrome”. Damon went on to explain what Fragile X was and to tell the panel he has learning difficulties and that he also has autism.

It was hard for Elaine and Michael as parents to take a step back and allow Damon to grow and become more independent. Especially having supported and advocated for him for so many years.

Page 8

Thanks to Darren Aitken (Manager) and the staff of Petries Hardware.

Ben was Born to Be Ready!

Ben Gower’s mother, Jo Ryan, posted on Facebook, seeking employment for her son.

The post caught the attention of Manager John, from Coles in Mowbray, Launceston, who reached out to Jo. Coles Head Office contacted CVGT’s Disability Employment Services in Launceston to help facilitate Ben’s employment.

To ensure employment success, CVGT Business Development Consultant Courtney Page met with Coles staff to discuss Ben’s abilities and introduced him to the team. She supported Ben through his induction and provided any other support he needed.

Ben has been working at Coles since early January and loves it. His mother Jo said that Ben gets his uniform ready the night before, often comments that ‘the guys are so good’, ‘we are so busy’ and when asked whether he’s ready for work he says “I was born ready, darl”.

Ben’s work day involves tidying shelves and removing cardboard in the grocery department. He also provides great customer service to Coles customers. Ben’s manager, John, said that Ben has an infectious, bubbly, polite and well-mannered attitude.

Ben and his Manager

Ben is enjoying his role at Coles Mowbray, feels part of the team and says it’s one of the best jobs he has worked in!

Reproduced from CVGT Website with permission

Annual Fragile X Fundraising High Tea in Launceston For the past 3 years, Ben Gower’s uncle, Shane Lyons, has organised a High Tea and the lighting up of the Launceston Town Hall for Fragile X awareness month in July.

The annual High Tea is a great chance for families from Launceston area and other parts of Tasmania to get together.

This event is consistently a sell out weeks in advance!

What’s Shane Lyons’ recipe for success?

Sunday 21 July 2019, 1:30pm 135 Paterson St, Launceston, Tasmania

Fabulous guest speakers, awesome raffle prizes from lots of local businesses, and the support of the FX community in Launceston and his family. Oh, and lots of high energy!

It will be another dynamic event! Liz Jewell, our Family Support counsellor, is really looking forward to meeting everyone there. Many thanks to Shane and team for initiating this successful annual fundraiser.

Page 9

A Summary of Current Drug Trials for Fragile X Syndrome

Prof W Ted Brown MD President Fragile X Association of Australia

While past drug trials in Fragile X Syndrome (FXS) have been generally disappointing in their results, there is real reason to be optimistic that current and future trials may have positive outcomes. Volunteering to participate in clinical trials is key to the hope that effective treatments will be found, which will help current and future children with FXS. Although such trials generally involve a blood draw and an EKG that can be challenging for children with FXS, and due to enrollment criteria not every one is accepted, determining that a given drug in a controlled study is effective, could lead to it’s eventual approval for being legally prescribed by your GP. Your participation, therefore would be altruistic and may lead to benefit for many families with Fragile X in the future. I would like to encourage families with FXS to consider enrolling in such trails that may be available in your area. I will briefly summarize some of the current trials and give a bit about their backgrounds.

There is an ongoing NIH sponsored trial (NeuroNext) in 13 sites in the US of the Novartis drug, AFQ056, which did not show significant improvement in the earlier trials, but which may have been due to testing older-aged subjects and for short periods of time. The overall goals of the current trial are to provide a definitive test of the mGluR theory of FXS by determining whether AFQ056, an mGluR5 negative modulator, can enhance neural plasticity in the form of language learning during an intensive language intervention in very young children with fragile X syndrome. This trial therefore will use an innovative but exploratory new trial design to develop a different way to examine efficacy of an agent with substantial support as a drug targeting CNS plasticity in mouse models of FXS. The trial is using a double blind placebo-controlled parallel-group flexible-dose forced titration design in which 100 subjects with FXS, age 32 months to 6 years of age are entered into a 12-month blinded treatment phase during which they are randomized 1:1 to AFQ056 or placebo followed by an CONNECT-FX (Clinical Study of Cannabidiol (CBD) 8-month (open label) extension phase in which all in Children and Adolescents with Fragile X) is a new- participants will be treated with active drug. The flexible ly initiated randomized, double-blind, placebo-controlled, dose design will mimic practice, take into account 14-week trial, sponsored by Zynerba Pharmaceuticals. differential responsiveness and the known inter-child It is now enrolling patients ages 3 through 17 years with variability in drug levels with AFQ056, and allow use of full mutation FXS, to evaluate the efficacy and safety of the maximum tolerated dose, which is likely to be most an investigational CBD gel (ZYN002).The CBD trial is effective. currently recruiting participants at 3 locations in Australia, and 20 in the US. It is a large (200+ subjects) controlled trial and is based on their earlier positive outcome The US based FRAXA organization (FRAXA.org) has from a smaller (20 subjects), open labeled trial conduct- given grants to support three ongoing clinical trials. ed here in Australia. CBD is the non-psychoactive The first, an open label trial of Metformin, is currently component of cannabis (marihuana). They presented recruiting 20 males and females ages 10-40 who have results last December regarding their first trial, which Fragile X syndrome and who live near Sherbrooke, demonstrated that treatment with their CBD skin gel Canada. Metformin is the most commonly prescribed improved core emotional and behavioral symptoms, and drug for type 2 diabetes, to control high blood sugar. social avoidance measures of FXS across multiple Metformin has emerged as a candidate drug for the tarmeasures at month 3 (59% improvement), and that geted treatment of FXS based on animal studies showthese improvements were sustained through 12 months ing rescue of multiple phenotypes in the FXS model. In (77% improvement). In May, the US FDA granted Fast these animal models, metformin normalizes several asTrack Designation for the Company’s CBD gel for pects of neuron-to-neuron communication. Metformin treatment of behavioral symptoms associated with FXS. may contribute to normalizing signaling pathways in FXS This designation is designed to facilitate the developin the central nervous system, which include activities of ment of drugs intended to fill unmet medical needs, and mTOR and PI3K, both of which have shown to be pathocan lead to expedited review by FDA in order to get new genically overactive in FXS. In addition, metformin inhibimportant drugs to the patient earlier. Also, there is a its phosphodiesterase, which would lead to correction of long, 8,000+ word story about CBD in the New York cAMP levels, and MMP9 production, which are also Times Magazine edition of May 14th that is worth readelevated in FXS. Looking at the potential signaling ing (Can CBD Really Do All That? https:// pathways, metformin appears to be a good candidate for www.nytimes.com/interactive/2019/05/14/magazine/cbd- targeting several of the intracellular functions in neurons cannabis-cure.html?searchResultPosition=2 ). disrupted in FXS and, therefore, has potential to rescue several types of symptoms in individuals with FXS. Page 10

While a growing number of families are trying metformin and reporting mixed results, metformin has not yet been systematically studied in patients with Fragile X syndrome. This open-label trial is designed to better understand the safety and efficacy of this medicine on behavior and cognition, and to find the best dosages for children and adults.

The second FRAXA-funded clinical trial is of an investigational new drug, and is led by Elizabeth BerryKravis in Chicago. This trial will treat 30 adult males with Fragile X syndrome with a new enzyme phosphodiesterase 4 (PDE4) allosteric inhibitor designated as BPN14770. This study is potentially a major advance in clinical FXS research for a number of reasons. First, the enzyme, PDE4, breaks down the signaling molecule cyclic AMP, has been singled out as a promising treatment target for a long time. Many researchers have shown that PDE4 inhibitors can fix Fragile X-related problems in animal models. Most recently, FRAXA funded researchers in collaboration with Tetra Discovery Partners, a small biotech company based in Michigan, showed that this new compound had powerful rescue effects in Fragile X mice, which persisted long after the drug was discontinued (www.ncbi.nlm.nih.gov/pmc/articles/PMC5677090/).

The third FRAXA funded trial is to Craig Erickson at Cincinnati Children’s Hospital. He is conducting a double -blind, placebo-controlled clinical trial of AZD7325 in 15 adults with FXS. The compound is an investigational new drug from AstraZeneca which selectively boosts GABA(A) receptors. Many studies have shown that the brain’s GABA system is impaired in Fragile X syndrome, and a number of medications that target GABA have shown promise for Fragile X. This initial trial will also use a number of innovative biomarkers which he hopes will be useful outcome measures for future trials.

The US biotech start-up company Ovid Therapeutics is sponsoring a clinical trial of OV101 at 8 centers, which is scheduled to be completed by the late summer of 2019 (ClinicalTrials.gov NCT03697161). This Phase 2 (ROCKET) trial is a double-blind, clinical trial designed to evaluate OV101 in 30 FXS males, aged 13 to 22. OV101 (also known as gaboxadol and THIP) is a clinically tested δ-selective direct-acting GABAA receptor agonist. There are many types of GABA receptors in the brain, which help regulate neuronal activity, but tonic inhibition is specifically a function of the δ-subunit containing GABAA receptors, and has been found to be deficient in fragile X animal studies. In FXS, tonic inhibition is diminished and in animal model studies, OV101 improved symptoms, such as motor function, sleep and aspects of behavior Tetra has developed an PDE4D allosteric inhibitor which and cognition. is highly selective, non-toxic, and easy to take. While Tetra is primarily developing this drug for Alzheimer’s, they agreed to branch out into Fragile X. Further, the Randi Hagerman is also conducting a center-funded FDA has granted Orphan Drug Designation to metformin study at the UC Davis MIND Institute for 60 BPN14770 for treatment of Fragile X syndrome, which FXS patients aged 6 to 25 years inclusive. It is a should speed its availability, should the trial prove randomized, double-blind, placebo-controlled trial. successful. One interesting aspect of this study involves Through this trial, she hopes to further assess meta crossover design, with every participant taking active formin's safety and benefits in the areas of language and drug for half of the trial period. This will allow the cognition, |eating and weight loss, and overall behavior. investigators to look for “carry-over effects” in the Fragile Each participant will be tested for a period of 4 months, X patients that were observed in the Fragile X mice. including 3 visits to the UC Davis MIND Institute. At each Trial subjects will also receive a full therapeutic dose of visit, the researchers will assess behavioral, cognitive, the drug, so clinically meaningful responses are language development, and any side effects. She possible. previously published positive results for 7 FXS cases given metformin in an open label format (Clin Genet.

2018;93:216-222. Metformin as targeted treatment in fragile X syndrome.)

Prof Wm Ted Brown, President, Fragile X Association of Australia Ted is the recently retired director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities in the US. On retiring Ted relocated to Sydney. He has an appointment as Visiting Professor at the University of Sydney. He is a fellow of the American Board of Internal Medicine and the American College of Medical Genetics. Much of his 35-year research career has focused on Fragile X syndrome and autism, and he was the first to describe a relationship between autism and Fragile X syndrome. Ted joined the Board of Fragile X Association of Australia in 2018.

Page 11

Fragile X Trial Testing the Use of Cannabis Gel to Treat Anxiety CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Three sites in Australia are involved: Children and Adolescents with Fragile X * Dr Honey Heussler in Brisbane * Dr Natalie Silove in Sydney A clinical trial is underway which may improve the quality * Dr Jonathan Cohen in Melbourne of life for children with Fragile X syndrome who struggle Families from interstate or regional areas who are with anxiety. interested in participating should contact the site that would be most convenient for them to attend.

A preliminary open label study involving 20 children with Fragile X in Australia in 2018 found the cannabis gel had “Anxiety and behavioural problems are not uncommon for a positive impact on anxiety levels with no serious those with Fragile X syndrome – particularly social adverse side effects. Many of these children have anxiety is a huge issue. If the medicinal cannabis gel continued on with no serious adverse effects. does ease social anxiety for children with Fragile X, it This trial will test the use of medicinal cannabis gel vs a would greatly improve their quality of life, and that of their placebo as a treatment for anxiety. families. This larger trial is needed to confirm if the results seen in previous research were a true outcome,” There are more than 200 children with Fragile X synDr Honey Heussler, principal investigator, said. drome involved in the international trial.

The study is recruiting participants until the end of July.

Fragile X Awareness and Assistance Cards The Fragile X Society in the UK has developed a series of small cards—the size of business cards—which can be useful in situations where a person who has Fragile X syndrome may need support or assistance in a social situation. We’re looking at having some of these cards made for Australia.

Key an eye on our website and facebook pages for ordering details.

Page 12

Photo credit: Luis Ascui, Fairfax Media

Research Project – Making health information accessible for people with intellectual disability A research team led by Professor Julian Trollor at the Department of Developmental Disability Neuropsychiatry, UNSW Sydney, aims to improve access to health care for people with intellectual disability.

Participation in the study involves attending a forum and talking with other family members and support people about your experience of the accessibility of health-related resources for the people that you support. Alternatively, you can choose to talk to a Part of this work is to learn more about the accessibility member of the research team either face-to-face or via of health-related information for people with intellectual email, the telephone or video conferencing.

This study is open to carers in New South Wales. disability. It also aims to learn about the type information that people with intellectual disability want to access when they experience a health problem, and For more details please see the team’s website what makes health-related information accessible to where you will find additional information and a them. participation information sheet: https://bit.ly/2K9OIJe Do you support a person with intellectual disability?

The team would like to hear from people who have experience supporting a person with intellectual disability.

If you would like more details or would like to register to participate in the study please contact Janelle Weise, Project Officer, on (02) 9931 9160 or DDN@unsw.edu.au

Janelle Weise is an Occupational Therapist who has worked across clinical, service delivery and managerial roles within the disability and health sectors. She is also a health services researcher and was recently awarded her PhD which explored the ways in which we can equip the mental health workforce in the area of intellectual disability mental health. As a researcher she has worked on a range of initiatives to enhance the capacity of the health and mental health services to deliver accessible, effective and efficient healthcare to people with an intellectual disability. Janelle is passionate about addressing the inequitable access to healthcare and poor health outcomes experienced by people with an intellectual disability.

Research Project – Support Needs of Siblings Dr Lauren Kelada is inviting families to participate in a study looking at the impact of child chronic illness and disability on siblings. The study is called SibStars.

The research team came together to develop SibStars after professional and personal experiences revealed that siblings are too often neglected by the health system. Siblings have unique challenges and joys.

Link to SIBLING SURVEY: https:// unsw.au1.qualtrics.com/jfe/form/SV_bw41VNfgp5TBfY9 SibStars is also inviting PARENTS to complete a 20minute questionnaire if they: Have at least one child with a chronic illness and/or disability such as Fragile X syndrome (of any age), AND

It is the aim of SibStars to celebrate siblings and better address their information and support needs.

Have at least one child without a chronic illness and/ or disability such as Fragile X syndrome (of any age)

The research team believes that families are best placed to provide health professionals with insights into how to Link to PARENT SURVEY: https:// improve the information and support that we currently unsw.au1.qualtrics.com/jfe/form/SV_enT5tEw09kaB2zb offer to siblings of children with chronic illness and disability.

QUESTIONNAIRES

For more information about the study, please visit https:// SibStars is inviting SIBLINGS to complete a 30-minute www.behaviouralsciencesunit.org/ questionnaire and a voluntary interview if they are: sibstars-study.html Aged 12 years or over, AND Currently living with a brother or sister who has a chronic illness and/or disability (eg, Fragile X)

If you have any questions, please email the study lead Lauren Kelada l.kelada@unsw.edu.au

Page 5 Page 13

Dr Lauren Kelada

Research Study: Seeking to Understand the Risk of Fragile X premutation carriers developing FXTAS Dr Danuta Loesch, a neurologist and geneticist from La Trobe University, extends an invitation to participate in a comprehensive study of Fragile X premutation carriers.

The study is seeking to address the fundamental issue of why some premutation carriers develop Fragile Xassociated Tremor Ataxia syndrome as they get older, while some others remain unaffected even in advanced age, or present with non-FXTAS symptoms.

This study is supported by a 2017-2022 National Institutes of Health (US) project grant. It is being conducted

by Dr Danuta Loesch in collaboration with Prof Elsdon Storey, a neurologist from Monash University, Alfred Hospital Campus, and Prof Randi Hagerman and her team from the University of California.

Dr Loesch and the team are seeking a large number of volunteers who are Fragile X premutation carriers who are over the age of 60.

The aim is to identify the biological markers that determine the risk and the rate of progress of these abnormal conditions and, consequently, possible factors protecting a person with the Fragile X premutation from the development of neurological problems associated with FXTAS. It is hoped that these discoveries will help, in the long run, to develop treatment and/or preventative measures.

Potential participants Fragile X premutation carriers over the age of 60 who are: 1. Men or women who do have neurological problems, especially in the form of imbalance (unsteadiness) and /or tremor (shaking).

2. Men who do not have balance or tremor issues.

Participants from Victoria, ACT and NSW are invited to join the study.

FXTAS Clinic Caulfield Hospital 260 Kooyong Rd, Caulfield

Prof Elsdon Storey and Dr Danuta Loesch on their recent visit with Prof Ted Brown in our office.

What the study involves The study includes a medical history review, neurological and memory testing, MRI (brain scan, optional), and collection of a blood sample.

Dr Loesch says: “The testing which may take place in your own home, takes about 3 hours and is free of charge. Prof Storey and I can travel to visit participants who are unable to travel to Latrobe University in Melbourne.

We do hope that many of you will contact us. We need a large enough group of volunteers, and therefore participation of every single person prepared to be involved is of critical importance for the success of the study.�

More information If you are willing to take part in the research, or require more information about the study, please contact Dr Danuta Loesch. Phone : 0407687145 or (03) 94791382 Email: d.loesch@latrobe.edu.au

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 David Szmulewicz

GP referral to: Dr Stephen Tisch

Dr Samuel Bolitho

Bookings: the clinic or via Fragile X Association 1300 394 Page 14

Research Study — Costs to Families of Raising and Caring for Children and Adults with Fragile X syndrome The national FreeFX study, led by Associate Professor David Godler at the Murdoch Children’s Research Institute in Melbourne, aims to test a number of new highly accurate laboratory methods which can tell us about a person’s level of the FMR1 gene activity.

We want to find out how early after birth these tests can be used to predict intellectual disabilities, behavioural problems and autism in children and adults who have expansions in the FMR1 gene.

As part of this study led by Dr Emma Baker, also aims to estimate the costs to families and the Australian government associated with raising and caring for children and adults with Fragile X syndrome at different ages. These include costs of medical services, medications, education, housing modifications, accommodation and care assistance. In order to do this we collected questionnaire data from families who participated in the FreeFX study.

To better understand these costs, we are now asking families with a child or children with Fragile X syndrome to complete two short questionnaires.

(2)

HOME MODIFICATIONS that have been made in order to make the family home more accessible and safe for the individual with Fragile X syndrome. https://redcap.mcri.edu.au/surveys/? s=LDRCFMKJKF

The questionnaires also ask about funding and estimated costs of the equipment and modifications.

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 FXS, 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. We thank you in advance for your time.

If you have any questions regarding the questionnaires or the FreeFX study, please contact Dr Emma Baker on 03 8341 6245 or emma.baker@mcri.edu.au

These questionnaires ask about: (1) EQUIPMENT that has been purchased for the independence and safety of the individual with Fragile X syndrome https://redcap.mcri.edu.au/surveys/? s=LDRCFMKJKF Dr Emma Baker

Meet Katherine Brown I’m English, born just outside London. I have a younger sister who is also a Carrier for Fragile X. At the age of 13 I met my husband, David Brown. We married in Las Vegas in July 2001 without an Elvis in sight.

It was a bit of an elope but we had a big party that October to celebrate.

In 2006 Dave and I moved to Australia, settling in Adelaide. In 2008 Samantha was born, followed in 2010 by Andrew. Samantha is yet to be tested for Fragile X, we’ll leave that up to her. Andrew was diagnosed in July 2012 after a second blood test.

I have worked as a collections officer, following my career path from the UK until Andrew was born. I then went back to work as a Leader for a well known weight loss company before joining the Westpac Group in 2013.

Samantha and Andrew go to the same mainstream Catholic school in the beachside suburb of Semaphore. Andrew has Educational Support Officers to help him engage with his peers during lessons. They’re both doing well.

Katherine, Dave, Andrew, Samantha

I love to run and exercise in my spare time with friends. I use this time to get ready for the day ahead. I find exercise is great for my mental health. I will be running the Barossa Half Marathon in August to raise funds for FXAA. Katherine has served on the Board of Fragile X Association since 2015.

Page 15

Supporting the Fragile X Community Help Line 5 days per week Family support and counselling Information days and workshops Educational videos about Fragile X

   

   

Information resources Raising awareness of Fragile X Website Facebook groups

Help Us Make a Difference Fragile X Association of Australia is a registered charity, 100% funded by donations and fundraising.

Donations of $2.00 and over are tax deductible.

Fundraise

Donate Online    

Like to help us fundraise?

Get in touch!

Regular donations One-off donations Workplace giving programs Bequests

Contact Us Call:

1300 394 636 (cost of a local call)

Email:

support@fragilex.org.au

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

Registered office of Fragile X Association of Australia Inc Suite 204, 20 Dale Street Brookvale NSW 2100 02 9907 2366 1300 394 636 ABN: 18 655 264 477

ARBN: 626 478 966

Page 16

Donations and fundraising make it possible for Fragile X Association of Australia to provide information, support, referrals and advocacy for families, and to provide the HelpLine service for everyone who contacts us for information or support about Fragile X-associated conditions.

Sincere condolences to Mrs June Abbott, Lady President of Penrith Golf Club Lady Members, whose husband Graeme passed away towards the end of 2018.

The Club Committee held a raffle as part of a 2 day golf event in March and raised $530!

The Club kindly chose to donate the proceeds of the raffle to FXAA as a tribute to Graeme who had lived with FXTAS for some time.

June and Graeme were involved in Fragile X Association over many years.

Fundraise for Fragile X The Manly Fun Run and Walk is a great opportunity to walk, jog or run along Sydney’s gorgeous Manly beachfront for a good cause.

Three distances: 2km, 5km, and 10km.

Something for everyone!

On Sunday 1 September. Yes, it’s Father’s Day, AND it’s the first day of Spring!

The Manly Fun Run and Walk is organised by Manly Rotary.

This year, for the first time they have invited a small number of local charities, to fundraise through this event.

This means that we can get a couple of Fragile X teams together to fundraise for Fragile X Association.

Join us on 1 September! Set up your own team or join an existing Fragile X team.

For details, contact Wendy: 1300 394 636

#Flashback #2018 Mike Tozer, our fastest Board member, has won the 10km leg of the Manly Fun Run for the past 2 years.

He’s keen to win the run for the third year!

Page 6 Page 17

https://www.manlyfunrun.org/

Top Ten Things for Teachers to Know About Fragile X These ten things will help bring out the strengths of each child and minimize or improve some of their struggles they may encounter.

The #1 thing teachers should know about students with Fragile X syndrome is that they are prone to hyperarousal and anxiety.

It is how their nervous systems are wired. Most recommendations that follow are geared to maximizing focus and cooperation by minimizing hyperarousal and anxiety:

1. Don’t force eye contact Eye contact will come naturally as the student becomes more comfortable with you.

2. Expect inconsistency Engagement and performance is likely to vary greatly; it can be difficult to discern why. Try to accept this to avoid frustration; your student will pick up on frustrated energy and that will exacerbate anxiety.

3. Students are “simultaneous” vs “sequential” learners Students with FXS are good sight word learners, but have a terrible time with phonetics. They are motivated by the end result, and impatient with the process. Use backward rather than forward chaining; use checklists to show progress toward an end result.

4. Allow and/or encourage frequent breaks Accommodate attention deficits by keeping tasks brief. Keep up a good pace – power breaks are short breaks.

5. Verbal expression is cognitively taxing Provide some non-verbal alternatives for students to show what they know, such as following directions and pointing to visual representations.

6. Think “INDIRECT” There are times when students with FXS enjoy attention, but most often they are adverse to the limelight.

Give compliments in the 3rd person about the student to others within earshot; use incidental learning; include the student in a small group while directing instruction to a peer; avoid direct, open-ended questioning: prompt “The President of the United States is…..” vs. “Who is the President of the United States?”

7. Prepare for transitions Give 10 and 5 minute prompts. Allow to be at the head or back of the line. Use social stories about routine transitions. Provide a purposeful errand so the focus is on the outcome (e.g. delivering an envelope) rather than moving from one place to another.

8. Work with an OT knowledgeable about sensory integration and embed S-I strategies into the school day Students with FXS are prone to hyperarousal and anxiety which undermines focusing ability- learn what S-I techniques are calming for your student – heavy work like re-arranging desks, cleaning windows, moving stacks of books? Vestibular input, like going for a walk, doing wall push-ups, swinging, using a skateboard?

Integrate these activities throughout the day to sustain a calm, regulated nervous system.

9. Notice environmental triggers Students with FXS often have sensory sensitivities to sound, light, textures, taste, and smell that provoke hyperarousal. Make adjustments to the environment (dim lighting, allow use of muting headphones) as much as possible.

10. Know FXS strengths Common strengths associated with FXS are a good visual memory, sense of humor, desire to be helpful,

For more information on strategies which support the learning style of children with Fragile X syndrome: www.fragilex.org and www.fragilex.org.au Page 18

Unique FX! In one of our recent newsletters, Jeremiah was pictured working hard on a logo design for Fragile X t-shirts.

Jeremiah wanted to create a special design that acknowledges the uniqueness of Fragile X, in support of his younger brothers.

Well, Jeremiah’s plans for Unique FX t-shirts have come to fruition, just in time for Fragile X Awareness month!

He has had t-shirts made for his entire family featuring the Unique FX design.

And a couple of spares were made for Prof Ted Brown and the team at Fragile X head office…

Congratulations Jeremiah!

Fragile X Travel Blog

The team at UC Davis MIND Institute have recently announced the launch of Randi on the Road— a new travel blog

by Dr. Randi Hagerman, detailing her trips around the world to offer expertise about Fragile X syndrome.

Randi’s first blog post is all about Juarez, Mexico - where she and a team have been working on creating a Fragile X testing and treatment program.

Subscribe online! http://bit.ly/RandiontheRoad Page 19