Happy Christmas! and more‌...
FX Info December 2020
Welcome to our end of year newsletter, our second for the year. While 2020 was certainly not what any of us might have planned, our Family Support Officer Liz Jewell and I, together with our Board headed by Prof Ted Brown, have been able to continue supporting the Fragile X community and advocating for policy and health advancements in Fragile X. Face to face educational events for health professionals were cancelled due to Covid-19, as were a number of fundraisers and opportunities for Liz and I to meet our members in person. However, Zoom has proven to be an invaluable tool, allowing us to participate in online forums, provide peer support for small groups of people, hold meetings, and talk to our members! Our Annual Report (available online via our website) provides an excellent overview of our work over the past 12 months or so, and this newsletter covers some of the highlights of the year and in raising public awareness of Fragile X in July. The Light Up for Fragile X campaign, initiated by our former Board member Nyleta McRae 4 years ago, has gone from strength to strength! This year on 22 July 64 landmarks across Australia lit up orange for Fragile X. This is a tremendous testament to the support of local councils, infrastructure operators and building owners, and to our members who took part. Western Australia joined the campaign this year for the first time, with some spectacular landmarks and bridges lighting orange. In Adelaide a huge digital billboard on Sir Donald Bradman Drive, with exposure to 60,000 cars a day, displayed digital Fragile X signage for a month, thanks to a generous donor. The Light Up campaign caught the interest of regional media, with family stories appearing in several syndicated newspapers. ABC Radio and social media also picked up coverage of our campaign to raise awareness.
In August this year our member survey called for member input on the future focus of FXAA. The overwhelming response was that FXAA is considered to be an essential support to the Fragile X community, and plays an important role in educating health and education professionals about Fragile X and in advocating on policy matters. I would like to thank all of our members who took the time to complete the survey and share their feedback. The survey responses form an important part in the Board’s current work on FXAA’s strategic plan for 2021-2024. Our Annual General Meeting was held by Zoom this year, and it was fantastic to have so many members join by Zoom! Dr Cynthia Roberts PhD was elected to the Board for a 2-year term, and other Board members were re-elected. The Achievement Awards were also a highlight! (see pages 4 and 5). The COVID-19 pandemic has slowed down many developments in the medical sphere, including the progress of some clinical trials. However Prof Ted Brown is of the opinion that there is reason to be optimistic that planned and ongoing trials may have positive outcomes, and he has written a comprehensive update of recent and current trials in the US and Australia (see pages 7-9). I would like to sincerely thank the many volunteers who have worked with us to support the Fragile X community in 2020, to raise awareness of Fragile X disorders, and help us advocate for change and advancements. Prof Ted Brown, the members of the FXAA Board, Liz Jewell and I wish everyone a very happy Christmas and New Year. We look forward to working with you and for you in 2021.
We have continued to be active in pursuing opportunities to represent the Fragile X community on health, disability and other Best wishes, areas related to Fragile X. We were pleased with a recent Wendy Bruce recommendation to Health Minister Mr Greg Hunt that Executive Director reproductive carrier screening for Fragile X, cystic fibrosis and spinal muscular atrophy be publicly funded through Medicare; FXAA has have been advocating for equitable access to testing and screening for many years. Prof Ted Brown and I recently made a submission to a parliamentary inquiry into approval processes for new drugs and novel medical technologies in Australia; the submission focussed on patient access to current and potential treatments for Fragile X. Liz has maintained FXAA’s involvement with the disability studies program at Australian Catholic University. She has also been involved in the curriculum for Masters of Genetic Counselling students in Sydney and Melbourne, taking part in Zoom workshops. This is an important way to provide trainee genetic counsellors with a good understanding of Fragile X. Liz also participated in a judging panel for the genetic counselling students’ end of year presentations. Image credits: Cover photo: Alanna. Courtesy of Anne Kerry.
James Griffin MP, State Member for Manly, joined us for an informal “Charities Open Day” on 1 December for Giving Tuesday. Pictured: Liz Jewell, Wendy Bruce, James Griffin MP, Prof Ted Brown
FX Awareness posters and photo wall: Kate Stokes.
Page 2
Annual General Meeting 2020 Our Annual General Meeting was held on Sunday 25th October, chaired by Prof Ted Brown. Social distancing restrictions due to COVID-19 limited the number of people who attended in person this year, but we were thrilled to have around 40 people join by Zoom. It was fantastic to have members from Brisbane, Launceston, Newcastle, Perth, Adelaide, Brisbane, Melbourne, regional Victoria and Sydney on the Zoom call!
Five Board members whose 2-year terms had ended were re-elected, and Cynthia Roberts was elected to the Board. See page 22 for the full Board for 2020-21. Other highlights included announcement of Life Membership for Robyn Iredale and Jo Ryan, Volunteer of the Year awards for Kate Stokes and Janine Peate, and recipients of well-deserved Achievement Awards and Encouragement Award.
Read online: www.fragilex.org.au Jacqui Smith-Horak, Ross MacKenzie and Natasha Smith-Horak with Liz Jewell at the Annual General Meeting.
Meet new Board member Cynthia Roberts Dr Cynthia Roberts PhD is a trained geneticist. She has run a clinical cytogenetics service in NSW at Royal North Shore Hospital and Genea (previously Sydney IVF), particularly focussing on prenatal testing. Cynthia worked with Genea for 25 years both as the Genetics Director and for 10 years as the Chief Risk Officer. Cynthia has a son, Daniel (aged 26) with Fragile X syndrome, and two daughters. Her daughter Amy is a carrier
and recently had her first baby son, following preimplantation testing for Fragile X. Cynthia has served as the President of the Human Genetics Society of Australasia and previously as committee member of Fragile X Association. Cynthia has been a keen fundraiser, having taken on the Sydney City2Surf fun run on multiple occasions! Now retired from work, she is keen to contribute further as a Board member.
Congratulations to our new Life Members! Life Membership awards recognise outstanding long-term commitment of our members to the Fragile X community. This year’s Life Membership awards recognise the work of Joanne Ryan (Launceston) and Robyn Iredale (Sydney) in raising community
Joanne Ryan
Robyn Iredale PhD AM
awareness of Fragile X; advocating for FX testing and diagnosis; advocating for supports and inclusion of people who have Fragile X syndrome; and their efforts in fundraising and securing support for Fragile X Association and our community.
Since Jo’s son Ben Gower was diagnosed with Fragile X syndrome, she has been a strong advocate for FX. Jo has worked over many years to increase awareness of FX amongst medical and educational service providers in Tasmania, served on an NDIS panel in the very early days of the NDIS scheme and arranged for Fragile X specialists from Melbourne to run a FX workshop in Tasmania. Jo secures media coverage of Fragile X and has the support of her local MP and the Council for “lighting up” the Launceston Town Hall on 22 July each year. Jo and her family coordinate get-togethers for the local families as well as the Launceston High Tea fundraiser. Robyn served on the Board of FXAA for 16 years, as President for 4. She has been a strong advocate for educational and employment supports for people who, like her son Marty, have Fragile X syndrome. Robyn has been a strong proponent for equitable access to early and accurate testing and screening for Fragile X, and for increased knowledge of FX disorders amongst healthcare providers. Robyn and her family have taken part in high profile media and awareness campaigns about Fragile X, most recently the ABC Series Employable Me and the award-winning short documentary Stuart X. Robyn and her family initiated FXAA’s charity partnership with the annual Bridge to Beach paddle race to help fund our Family Support service.
Page 3
Achievement Award Winners 2020 The recipients of this year’s Fragile X Achievement Awards were announced at our Annual General Meeting in October. It was terrific to have many of the winners on the Zoom call! Each person received a framed Achievement Award certificate and a special t-shirt with a design drawn by Jeremiah Good, an Achievement Award winner in 2019. Jeremiah’s Unique FX design was created in honour of his younger siblings who have Fragile X syndrome. A special mention is due to Patrick Rasmussen, who received an Encouragement Award at the Annual General Meeting for his wonderful commitment to developing his talent in the performing arts.
Congratulations, Hugh Rodgers, for achieving his 10-year milestone with his employer Coles! Hugh’s family said: “ With just one in four Australians staying with the same employer for 10+ years, we would like to congratulate Hugh who achieved a 10 year milestone with Vintage Cellars Seaforth. Hugh began his employment journey in 2010 as a fresh faced 21 year old ready to take on the world and, with the assistance of Job Centre Australia Chatswood, has built a long term career. Transitioning into employment Hugh originally faced the challenges of working in a team environment, being reliable and punctual and navigating Sydney public transport. Hugh has always had exceptional support from both JCAL and Vintage Cellars ensuring he was confident and capable of performing well within his role. Michael, Store Manager – Vintage Cellars, has built a strong rapport with Hugh mentoring him to become a self-confident valued and well respected team member. Ask Hugh about the specials, his favourite Barossa red or craft beer of the month and he will be happy to recommend!
Isaac Smith: For about 18 months Isaac has been operating his micro enterprise delivery service ‘Cool Cart Deliveries’, with his support crew. The development of this enterprise has given Isaac the opportunity to work in the community with control while doing tasks that he enjoys, and at the same time provides plenty of opportunities for him to practise and develop his skill sets. Isaac works with his PA completing all the tasks required from the packing and delivering, customer service, record keeping, van maintenance, invoicing, navigating, scheduling, and more. He is learning new skills and being encouraged to be more independent. This has been highlighted so far with the development of a great rapport that he has established with many of his regular customers, as well as the team who pack and organise the stock for deliveries. As an essential service Isaac and his team navigated the challenges of COVID-19. Isaac was nominated by his family.
Kieran Kelleher was nominated for an Award by Robyn Iredale, who has known Kieran since he was about 15 years old. She said “He was a shy young fellow but he is now 32 and has grown into a charming young man with a great enthusiasm for life. He brings a smile and a laugh to every situation.” After leaving school, Kieran became an avid surfer and helped out at one of the Manly surf shops. He kept them on their toes and was a valued helper. He was also involved with a dog wash business and no doubt kept people entertained while he groomed their dogs. Kieran now works with the enterprise Bushlink, which does a wide range of restoration and revegetation projects in the local area and is a major contributor to improving the environment. Kieran is a very keen basketball player and has twice represented NSW in the Special Olympics National Games. This has been enormously important for him and he now has the confidence to live independently. Kieran’s achievements are very significant and are a tribute to his hard work and the efforts of his family.
David Cox-Taylor was nominated by his parents for an Achievement Award for 'Remaining Positive and Courageous throughout job negotiations'. David has worked for the same employer for 28 years, which is a tremendous achievement in itself! David has had an extremely stressful few months not knowing if he would keep his full time job that he loves. His employer placed him on holiday leave and then long service leave due to COVID -19 culminating in a notification of retrenchment. David's employment has now been continued, however for greatly reduced hours for which of course he is grateful. Congratulations, David!
Page 4
Harry Wilson: Harry was nominated for his strong ability to adapt to change. Harry’s mother Alison says Harry has been stretched this year, many times, by coping with significant changes such as moving house, extended time at home, hospital visits and changes at school. He has managed all of this by displaying positive behaviour. Harry enjoys riding his bike! He is getting more confident riding in the community. Alison says “I was overjoyed one day when he arrived home and the carer with Harry said that Harry had made a new friend. This friend had come up and introduced himself to Harry and rode alongside him. He showed interest in Harry by asking about him. Harry has also continued to learn new skills. He has quickly learnt to drink from an open cup. He communicates effectively on his electronic communication device using the program LAMP. I continue to be impressed when Harry shows me a new word he has learnt and creates a long sentence.“ Well done team Harry!
Harry Colgrave was nominated for an Achievement Award by his Aunty Kate, for giving things a go and giving everything his all over the past 12 months, despite the challenges of 2020. Achieving independence and building skills: He has taken on 2 jobs this year in addition to his school work. He has a permanent paid casual job with a plumbing services business, and a regular fortnightly shift at a café as a training volunteer position, making barista coffee, food prep and customer service! On the sporting front, he has participated in the Launceston Touch Association’s All Abilities Program, and is an active member of his school’s AFL teams, working as Water Boy for the senior teams and helping his Dad to arrange game day. Harry is supportive of his family members, always looking out for his younger brother Tom, and helping with his care. On the personal development front Harry has been learning to catch buses, to cook and to manage money (absolutely loves tapping his keycard!) Next year he has the big challenge of changing schools for college, which he is looking forward to after carefully selecting his subjects—including photography, an interest he shares with his Aunt.
Mitchell Runcie was nominated by Liz Jewell. Mitchell is an avid performer and dancer. He has performed publicly on many occasions with The Sunshine Troupe Inc which he has been a member of for over 10 years. He spends many hours practising the dance routines which have been enjoyed by so many. Mitchell is also a keen basketball player. Mitchell is an avid participant with Special Olympics QLD. He has represented QLD in the national games in Canberra, Melbourne and Adelaide, in basketball, ten pin bowling & swimming. Through his drama and dance group The Sunshine Troupe he has had many opportunities to partake in mainstream dance residencies. Highlights: QLD Performing Arts “We All Dance” residency with The Royal London Ballet. Aha Ensemble “ Explain Normal” Sunshine Coast “Horizon Festival.” Mitchell also works within The Compass Institute in Palmwoods QLD as a farmers assistant. He attends the animals, plants veggies, maintains the farm. This is a social enterprise group for adults with disabilities.
Luca Frazzica was nominated for an Achievement Award by his mother Jane. Luca does an amazing job supporting his younger brother, Vinn, who has Fragile X syndrome. Luca gives up his free time at school to support Vinn at all times; he helps Vinn at school assembly; and coaches Vinn in reading. Luca is also working to raise awareness of Fragile X in their school community in Hobart. Luca gave a speech to his peers about Fragile X, and the challenges which Vinn and other children can face. Luca and his classmates arranged a fundraiser for Fragile X Association, securing sponsorship for running laps for a charitable cause. Congratulations, Luca, on receiving the Award, and thank you for supporting Fragile X Association of Australia.
Page 5
Family Support
Liz Jewell Family Support Officer liz@fragilex.org.au
FX Helpline
Journaling Workshop
1300 394 636
thoughts, and see things differently through writing and other
Our FX Helpline operates 5 days a week and is open to anyone. You may have a query relating to testing, a new diagnosis, education, employment, behaviour, support services.
creative means. It can be an effective tool for stress relief and
Individual / Family Support
The practice of Journaling helps you organize your
Available 3 days a week. Includes facilitated Peer Support sessions, by linking small groups with a common issue or experience. Help with negotiating relationships at work, NDIS letters of support, advocacy, resources, referral to health professionals, FX-related health concerns.
self reflection. An activity to do at your own pace and in your own time.
Online workshop for FXAA members via Zoom An introduction into different types of journaling
Counselling
Therapeutic and emotional benefits
Counselling is available to FX members 3 days a week. Delivered via phone, Zoom or in person. An opportunity to debrief, focus on self care, express feelings and concerns confidentially.
Journaling as a stress management and self-exploration tool How to get started and stay motivated Day time and Evening sessions (1 hour)
Peer Support Groups
February 2021 [dates to be advised]
Facilitated Peer Support sessions, linking small groups with a common issue or experience. Contact Liz for details.
RSVP: liz@fragilex.org.au or 1300 394 636
Facebook Discussion groups Opportunity to connect with others, share experiences or post a
Short film on females living with FX
question. FXAA FB page as well state specific.
FXAA is seeking females with Fragile X syndrome who are keen to share their experience and talk about the impact of FX on daily life as part of a short video. The footage will accompany slides and information developed by Marcia Braden on her recent visit to Australia and NZ earlier in 2020. RSVP:
Support is available to all people in the Fragile X community:
liz@fragilex.org.au or 1300 394 636
Email: liz@fragilex.org.au Phone: 1300 394 636 Face to face: Zoom Messenger: Mondays/Tuesdays/Thursdays, 9am-5pm EST
Page 5 Page 6
Research Matters Update on Clinical Trials for Fragile X Syndrome While past drug trials in Fragile X Syndrome (FXS) have generally had disappointing results, there is reason to be optimistic that planned and ongoing trials may have positive outcomes. Here, I will briefly summarize some of the current trials and give a bit about their backgrounds, including a new clinical trial planned in Australia in 2021.
Prof W Ted Brown MD President Fragile X Association of Australia
the participants that had the full methylation type of full mutation FXS, and who had the more severe behaviours. The FDA meeting is anticipated to happen before the end of 2020. The outcome is expected to either be an approval for Zynerba to market the drug in the US or a recommendation to do further testing.
This summary may be technical for some readers. If you have any queries about the current state of clinical trials in Australia, please contact me via our FXAA office on 1300 394 636 or email to support@fragilex.org.au
Zynerba—Australia, NZ, US trials A randomized, double-blind, placebo-controlled, 14-week, phase 2-3 trial labeled CONNECT-FX, sponsored by Zynerba Pharmaceuticals, was completed in February 2020. It enrolled 210 people aged 3 to 17 years with Fragile X syndrome, to evaluate the efficacy and safety of a CBD gel (Zygel). CBD is the non-psychoactive component of cannabis (marijuana). The trial’s aims were to evaluate this gel as a treatment for behavioural symptoms, particularly anxiety. This CBD trial initially recruited subjects from Sydney, Melbourne, Brisbane and New Zealand and then later at some 20 sites in the US. A preliminary announcement of the results was presented on June 30th 2020. In their summary: “Zygel did not achieve statistical significance versus placebo in the primary endpoint of improvement in the Social Avoidance subscale of the Aberrant Behavior Checklist – Community FXS (ABC-CFXS). Zygel also did not demonstrate statistical significance versus |placebo in the three key secondary endpoints, which were the change from baseline to the end of the treatment period in the |Irritability subscale score of the ABC-CFXS, the Socially Unresponsive/Lethargic subscale score of the ABC-CFXS and Improvement in Clinical Global Impression (CGI-I).” (However, all results showed improvement and benefit of the drug over the placebo, even though they were not statistically significant at the 0.05% level.) In their further summary:
In the meantime, all participants who completed the trial as well as the participants in Zynerba’s earlier open label Zygel trial in Australia will be offered the opportunity to continue to receive the CBD gel, for which further results will be obtained on its effectiveness. The method for determining full methylation in Fragile X syndrome, as opposed to having mosaicism, was the southern blot analysis using several restriction enzymes. (See discussion of mosaicism which follows.) Novartis—US trial In the US an NIH (National Institutes of Health) sponsored trial of the Novartis drug, AFQ056 (Mavoglurant) (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) has completed recruiting subjects of ages 32-71 months for the 12 month, placebo controlled trial and should have results announced sometime next year1. The overall goals of the 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. Metformin—trials in Canada and the US Controlled trials of Metformin in Canada, California and Pennsylvania are recruiting subjects, and are about half done overall. The expectation is that the trial results will be forthcoming sometime in 20221. The clinical trials are designed to evaluate effects of Metformin on cognition, anxiety, attention and biomarkers.
“A pre-planned ad hoc analysis of the most severely impacted patients in the trial, as defined by patients having at least 90% methylation (“full methylation”) of the impacted FMR1 gene, demonstrated that patients receiving Zygel achieved statistical significance in the primary endpoint of improvement at 12 weeks of treatment in the Social Avoidance subscale of the ABC-CFXS compared to placebo (p=0.020). This group comprised 80% of the patients enrolled in the CONNECT-FX study. The Company believes that full methylation occurs in approximately 60% of the overall FXS patient population. Based on this analysis, Zynerba intends to meet with the FDA (Federal Drug Administration in the US) regarding a regulatory path forward for Zygel.”
Metformin is the most commonly prescribed drug for type 2 diabetes, to control high blood sugar, but also may normalize brain biochemistry. Metformin may contribute to reducing signalling pathways in FXS in the central nervous system, which include activities of mTOR and PI3K, both of which have shown to be pathogenically overactive. In addition, metformin inhibits phosphodiesterase, which would lead to correction of cAMP levels, and MMP9 production that are also abnormally elevated in FXS. Looking at the potential signalling pathways, metformin appears to be a good candidate for targeting several of the intracellular functions in neurons disrupted in FXS. Based on several preliminary FXS reports, as well as animal studies 2, While the trial did not achieve the anticipated outcomes in the study metformin potentially can rescue behavioral symptoms in participants, Zygel did demonstrate a positive outcome in 80% of individuals with FXS. Page 7
Tetra Therapeutics—new drug BPN14770—US trial The trial of a new investigational new drug, BPN14770, led by Dr Berry-Kravis, has been completed and the results measuring cognitive and behavioral improvements have recently been presented by a press release (Tetratherapeutics.com, Nov 3, 2020). In this trial 30 adult males with FXS were treated with a new enzyme phosphodiesterase 4 (PDE4) allosteric inhibitor designated as BPN14770.
and tolerability of orally administered Trofinetide in 72 adolescent and adult males with fragile X syndrome. It was started in 2014 and completed in 2015 with the latest update in 2018 (ClinicalTrials.gov Identifier: NCT01894958).
Improvement from treatment baseline was demonstrated on FXS specific outcome measures of motor performance, sensory oversensitivity, and cognition. Despite the relatively short duration of the study, a consistent signal of efficacy at high doses The enzyme, PDE4, breaks down the signalling molecule cyclic AMP, of the drug was observed, which suggests a potential for and has been singled out as a promising treatment target for a long Trofinetide treatment to provide clinically meaningful improvement. time. Many researchers have shown that PDE4 inhibitors can fix It seems the company is focused on the trials in Rett syndrome Fragile X-related problems in animal models. The FRAXA-funded before resuming FXS trials. researchers in collaboration with Tetra Discovery Partners, a small biotech company based in Michigan, had shown that this new Actinogen Medical—Australian trial proposed compound had powerful rescue effects in Fragile X mice, which Actinogen Medical, an Australian-based pharmaceutical company, persisted long after the drug was discontinued3. announced on October 15th that they would be conducting a new clinical trial of of their lead compound, Xanamem, in FXS. The clinical trial involved a crossover design, with every (see their website for details: www.actinogen.com.au) participant taking the active drug for half of the trial period. This allowed the investigators to look for the “carry-over effects” in the Xanamem’s novel mechanism of action works by blocking the Fragile X patients that had been observed in the Fragile X mice. production of intracellular cortisol – the stress hormone – through the inhibition of the 11β-HSD1 enzyme in the brain that produces Cognitive assessments using the NIH-Toolbox revealed significant benefit in Oral Reading Recognition, Picture Vocabulary, cortisol. and Cognition. Parent/Caregiver ratings revealed benefit that was This study will be a phase II double-blind placebo-controlled trial judged to be clinically significant in Language and Daily evaluating the efficacy and safety of Xanamem in approximately 40 Functioning. male adolescents (age 12-18) with FXS. The benefit of BPN14770 was maintained up to 12 weeks after the crossover from drug to placebo. BPN14770 was very well tolerated The study will assess the safety and tolerability of Xanamem in this in the Phase 2 trial with few adverse events. I anticipate that further population at two different doses. Additionally, the study aims to determine if Xanamem effectively treats the anxiety and sleep phase III trials will soon be planned. problems experienced by FXS patients, and to determine if the drug adequately manages the behavioural difficulties associated with Astra Zeneca—US trial FXS. The double-blind, placebo-controlled clinical trial of AZD7325 by Dr Craig Erickson in Cincinnati has recently been completed. Scales Once regulatory approval is granted, the lead investigators on the measuring social withdrawal and anxiety were analyzed. project, A/Prof David Godler and Prof David Amor, will begin the A strong placebo response was seen, and the behavioural measures study in Melbourne through the Murdoch Children’s Research showed no significant effects compared to the placebo. Potential Institute in 2021. quantitative biomarkers are still being analyzed to see if they will show any significant effects1. Allos Pharma Inc—Arbaclofen—US trial Allos Pharma Inc, a late-stage pharmaceutical company developing Acamprosate—US trial therapeutics for neurodevelopmental disorders and based in Drs Erickson and Berry-Kravis conducted an internally-funded trial Boston, USA, announced in November the exclusive license rights of the drug Acamprosate. This controlled trial aimed to analyze its on arbaclofen in FXS (see Fraxa.org website). The company is effect on behavioural problems in 48 trial participants over a preparing the regulatory path for market authorization. 10-week period. The trial results have recently reported no significant effects were found related to the drug1. Allos Pharma was founded to translate breakthrough discoveries in neurobiology into innovative drug treatments that improve the lives of patients and families with Fragile X syndrome, autism, and other Neuren Pharmaceuticals disorders of brain development. An investigation of the use of Neuren Pharmaceuticals’ Trofinetide (NNZ-2556) in Fragile X was recently published4. Tolfinetide is a “Arbaclofen is the active form of baclofen, a GABA-B receptor tripeptide from the terminal sequence of IGF-1 and has been mostly agonist. Animal research confirmed that arbaclofen can correct investigated in Rett syndrome and traumatic brain injury. core pathophysiology in Fragile X that arises from dysregulation of This Fragile X study was an exploratory, phase 2, multicentre, neuronal protein synthesis and hyperexcitability” said Professor double-blind, placebo-controlled, parallel group study of the safety Mark Bear co-founder of Allos Pharma. Page 8
“Statistically significant and clinically meaningful efficacy was observed in a prior Phase 3 trial conducted by Seaside Therapeutics in humans with Fragile X syndrome.” said Randy Carpenter, MD, and co-founder of Allos Pharma.
Footnotes: 1. A summary of some of these reports were presented at a recent online NFXF Conference, Research Day, July 22, 2020 and are available in archived form via the NFXF website, Fragilex.org.
Seaside had begun a phase III trial of arbaclofen back in around 2010 but it was stopped due to lack of funding at the time. A phase II trial results has been reported5. “We are delighted that Drs. Bear and Carpenter and the rest of the Allos team are moving ahead with arbaclofen to treat core symptoms in children with Fragile X. Many, many families have been waiting eagerly for this news!” said Katie Clapp, President and co-founder of FRAXA Research Foundation in the US. There is an video interview with Prof Mark Bear about arbaclofen on the www.fraxa.org website.
3. Gurney et al. Multiple Behavior Phenotypes of the Fragile-X Syndrome Mouse Model Respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D). Gurney et al. Sci Rep. 2017, 7(1): 14653. 4. Berry-Kravis et al. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Ped Neurol 2020, 110, 30. 5. Berry-Kravis et al. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci. Transl Med. 2012, 4, 152ra127.
Hopefully further clinical trials of arbaclofen can now be conducted.
What is Mosaicism?
2. Biag, et al. Metformin treatment in young children with fragile X syndrome. Mol Genet Genomic Med. 2019 (11):e956.; Dy, et al. Metformin as targeted treatment in fragile X syndrome. Clinical Genetics, 2018, 93, 216.; Gantois, et al. Metformin ameliorates core deficits in a mouse model of fragile X syndrome. Nature medicine 2017, 23, 674.
By Prof Ted Brown
In general, mosaicism is defined as a condition in which cells of genetically different types occur in the same individual. Mosaicism is seen in animals and in humans:
What is Mosaicism in Fragile X syndrome? Some individuals with Fragile X syndrome have what is called mosaicism of their Fragile X gene based on laboratory studies of their blood. In Fragile X syndrome, this means that some of the person’s cells will be premutation FXS and some will be full mutation FXS. Having some FX premutation cells might mean that there would be a higher level of functioning in terms of daily living skills or learning. There are technically two kinds of mosaicism that are commonly seen. They are termed repeat size mosaicism and methylation mosaicism. This is most commonly reported from the analysis of the Southern blot test, which looks directly at the patterns of Fragile X DNA size variations seen in a blood sample. Size mosaicism is when there are one or more premutation size bands along with the full mutation pattern seen on blot analysis. Methylation mosaicism is when some of the full mutation size bands are seen as being unmethylated. In 1994, my laboratory analyzed a large sample of about 150 boys with the Fragile X syndrome and reported that 41% showed a pattern of being mosaics1. We found that 87% of these were size mosaics and 13% were methylation mosaics. Among the size mosaics about half had a strong premutation band seen on the Southern blot and half had a weak pattern seen only when the DNA sample was overloaded. Having premutation and unmethylated bands in the blood samples, would indicate that they were likely making some fragile X protein (FMRP) and might be higher functioning. We subsequently analyzed a sample of 46 boys with mosaic Fragile X, using the Vineland adaptive behavior tests and reported that development of communication, self-care,
socialization, and motor skills were two to four times higher if they had the mosaic pattern2. Because our analysis was done on blood samples, which could be different to what would be seen in other tissues such as the brain, we obtained skin biopsies from four boys with Fragile X syndrome to analyze the pattern in skin samples that would more closely related to embryo brain development. We compared the DNA in blood cells and skin fibroblasts from the four mosaic Fragile X males to see if there was a difference in the relative amounts of premutation and full mutation alleles within the tissues of these individuals. Half of these males showed striking differences in the ratio of premutation to full mutation in different tissues while the other half showed only slight differences3. Recent studies from David Godler’s lab found that of 90 males with FXS, 78% had a full mutation and 21% had premutation/full mutation mosaicism4. In a subsequent study, they found that more than half of males with a full mutation only were positive for having a very low level of FMR1 mRNA detectable, even if untranslated into protein5. In conclusion, 20-40% of males with Fragile X syndrome are found to have mosaicism and may be associated with higher functioning. 1. Nolin SL, Glicksman A, Houck GE, Brown WT, Dobkin CS. (1994). Mosaicism in fragile X affected males. AmJMedGenet. 51, 509–512. 2. Cohen IL, Nolin SL, Sudhalter V, Ding XH, Dobkin CS, Brown WT. (1996). Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males. AmJMedGenet.64,365–369. 3. Dobkin CS, Nolin SL, Cohen I, Sudhalter V, Bialer MG, Ding XH, Jenkins EC, Zhong N, Brown WT. (1996). Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin. Am J Med Genet. 64, 296–301. 4. Baker EK, …,Godler, DE. (2019). Intellectual functioning and behavioral features associated with mosaicism in fragile X syndrome. J Neurodevelopmental Disorders.11:41. 5. Baker EK, …Godler, DE. (2020). FMR1 mRNA from full mutation alleles is associated with ABC-Cfx scores in males with fragile X syndrome. Sci Reports 10:11701.
Mosaicism is a complicated topic. To understand more about it, I highly recommend a good webinar given by genetic counsellor Brenda Finucane for the National Fragile X Foundation on YouTube video at: https://www.youtube.com/watch?v=I4UU2zDH68k
Page 9
NDIS Plan Self-Management for Children and Young People: Fact sheets, Webinars Children and Young People with Disability Australia (CYDA) is the national representative organisation for children and young people with disability aged 0 to 25 years.
process and resources built over the project meet their needs. The project was resourced with the support of an NDIS Information, Linkages and Capacity Building Grant.
CYDA's In Control Our Way project supports families of children and young people with disability to take control of their NDIS and to self -manage their child or young person's NDIS plan by providing free fact sheets, webinars and a contact at CYDA to speak to with any queries.
The fact sheets were published in October 2020 and cover a range of topics. The information is presented clearly and is easy to follow, and practical. The factsheets and can be downloaded or printed from the website. Printed copies can be ordered from CYDA.
The aim of the project was to establish an information and peer support model to build the capability of families to self-manage their child or young person supports. The project is delivered through co-design process with families to ensure the information,
Two webinars on NDIS self-management for families of children and young people with disability are also on the website.
Page 10
www.cyda.org.au
03 9417 1025
Changes Proposed for Introduction in 2021 The NDIA recently announced that some significant changes to the NDIS scheme are proposed for 2021 in these areas:
Independent assessments for determining access and eligibility Budgets and planning Early Childhood Early Intervention approach
Early Childhood early Intervention re-set Early childhood intervention (ECI) is the extra support given to young children who need it, early in their life, to help them build their skills so they can take part in everyday activities. It is for young children who might have, or are experiencing, developmental delay or disability. The NDIA is proposing to re-set the Early Childhood Intervention approach with changes to take effect from late 2021. Changes include the following:
The following summary is based on the NDIS website:
The age group best suited to receive early childhood services changes from under seven years of age, to under nine years. Independent assessments Independent assessments will be used to determine eligibility and From mid 2021 the NDIA will use an Independent Assessment budgets for young children over 12 months of age. process to determine a person’s access to the NDIS. Once the Enhancing Short Term Early Intervention (STEI), which is the early independent assessment has been completed, the assessor will support that is offered whether or not a child is eligible for an NDIS send the assessment to the NDIA. The NDIA will use the information plan. to help it make a decision on whether the person meets the access A distinct ECEI implementation model, differentiated from the requirements for the NDIS. general Scheme, which enables young children to receive the right level and mix of support for the right period of time, through a family Re-assessments. People already in the NDIS may be asked to centred approach aligned with best practice. complete an independent assessment from time to time to make Planning and implementation to be more clearly based on best sure that the NDIS and budget are right for the participant. practice supports. Further assistance to help young children and families to Disability Access Lists will no longer be used. These lists have been successfully transition from needing NDIS supports and start the used to help determine whether a person’s condition met the next stage of their life. disability requirements of the NDIS. List A has conditions which are likely to meet the disability requirements for NDIS eligibility, The NDIA has published two discussion papers outlining areas of eg: Autism. List B has permanent conditions where assessment of improvement, and making 23 recommendations to improve the ECEI functional capacity is required, eg: Fragile X syndrome. List D has approach for the NDIS. One paper is specifically for families and been used to determine whether a person’s condition met the early carers. intervention requirements. The Independent Assessment process replaces the use of the lists for access to the NDIS. More info: :https://www.ndis.gov.au/about-us/improving-ndis/earlysupport-young-children-and-families More info: https://www.ndis.gov.au/about-us/improving-ndis/ independent-assessments-access-and-eligibility Opportunity to provide feedback to the NDIA The NDIA is calling for NDIS participants and their families and Planning process: personalised plan budgets & plan flexibility carers to provide feedback on these changes. The Independent Assessment will be used to develop a personalised budget, and for an initial plan and a plan review. You can provide your feedback via the NDIS website. You will receive a draft plan, including a draft budget, before your The feedback process is open until 23 February 2021. planning meeting. Plans can be set for longer periods of time, up to 5 years. https://www.ndis.gov.au/community/have-your-say From time-to-time, a new independent assessment will need to be completed to ensure the plan is still right for the participant. To keep up with the latest NDIS news: Regular NDIA “checkins” on participant plans and new independent assessments. Subscribe to the NDIS newsletter The budget in your plan will be more flexible. The core, capacity Visit the News page on the NDIS website building and capital budgets will be replaced with two budget Follow the NDIS on social media categories: a fixed budget for specific supports, such as high cost assistive technology, specialist disability accommodation or home Note: modifications.; the remaining budget will be a flexible budget and A number of disability advocacy organisations and peak bodies these funds will be released at regular intervals. have been engaging in consultation with the NDIA regarding these proposed changes, in particular the Independent Assessment More info: https://www.ndis.gov.au/community/have-your-say/ process. planning-policy-personalised-budgets-and-plan-flexibility
Page 11
Everyone Can Work: Employment Pathways for People with Intellectual Disability The Everyone Can Work website launched by Inclusion Australia brings together information about employment supports to help people with intellectual disability and their families navigate the pathways to open employment. Inclusion Australia is the national peak body for intellectual disability and focuses on issues that affect the lives of people with intellectual disability and their families. The website has resources for families, people with intellectual disability, supporters and employers on a wide range of topics, as downloadable fact sheets in Easy Read English, and with supporting videos. For Employers: Covering: Employing People with Intellectual Disability, Orientation, Support at Work, Recruitment, Supervision and Feedback, Workplace Culture, Skill Development. For Families: Covering: What is Open Employment? Tips for Work Experience in Year 11 and 12, How the government’s Disability Employment Service works, Learning on the Job.
The website also covers how to navigate the range of different government employment supports for people with disability. Webinar recordings:
Thinking about work School to work transition planning Transition to work Getting into open employment later on
The Everyone Can Work project was funded through an NDIS Information Linkages and Capacity Building Grant, and the website was launched in November 2020.
www.everyonecanwork.org.au
Page 12
Family Story: Two Peas in a Pod Dion and Toby Butler living with Fragile X Syndrome Dion 39 yrs, living independently for 17 yrs, 400kms or 4.5 hrs from parents. Toby 31 yrs, living at home with Mum & Dad. These two lives are so very different. One lives in a small country town, population 1100 people. The other lives in a suburb of Albury, population 9000 and Albury only being 10 mins away, population 50,000. Both Dion and Toby grew up on an isolated sheep station 120 km north of Balranald on 30,000 acres. Closest city being Mildura Vic 280 kms away. They and their sister attended a small rural school before we moved to Balranald setting up a second home. Boys were then able to attend special unit there for two years before it was forced to close. Unfortunately their dad had to stay on farm whilst we travelled Mon -Fri for school and back home to farm for weekends.
Dion
Toby
Dion who has lived independently for 17 yrs, absolutely loves his own space (as he says) and thrives living in a small country town. Toby on the other hand seems to be thriving with constant work, Netball and social outings. He recently received an Enterprise Award from work Toby then did home schooling on the farm for Yrs 7-12 with his mum voted by his peers and has attended a few tournaments with his as tutor. Toby did Distance Education Support through the DESU Netball. He seems to need to keep busy due to his ADHD and anxiety. based in Sydney. He gained his HSC in Life Skills. His brother Dion This is something that may be interesting to a lot of readers. Both was already living independently with support from a wonderful Rural boys were on medication during school years. Dion who has ADD Support Service in Balranald. Dion was very lucky having stopped taking medication instantly when he finished school, no permanent casual work from the time he left school at the end of Yr longer needing it for concentration. 10. He is still working at the local IGA Supermarket, working 10 hrs per week. Toby on the other hand who suffers from ADHD and Anxiety ceased taking medication slowly when his schooling ended, with us thinking Toby on the other hand is working 40 hrs per week catching a bus at he would be better off not having to rely on medication. After a few 6.30 am and returning home approx. 5pm, working daily 7.30-3.30 at years in consultation with his doctor, Toby was reintroduced to a packaging plant for people of all abilities (Merriwa Industries). medication to control his mood swings and to make him more By moving to Albury 9 years ago for Toby to have more opportunities settled (not as anxious). This seems to help Toby cope better than he workwise. He has been lucky enough to join a social group, All Abiliwas. ties Mixed Netball Team. He attends social outings with a couple of different Support Services. Their Dad and I couldn’t be prouder of all they have accomplished so far! As much as they are living such different lifestyles they are both very happy each within their own environment. Two Peas in a Pod yet so different. By Margie Butler
Brenden: Back to his Old Tricks! Brenden’s father Fernando has shared these great photos! Brenden has recently bounced back from a series of health issues which had drained his confidence and seriously affected his daily living. Through his NDIS plan, Brenden now has a permanent carer to take him on his activities during the week. Having a new buddy outside the home, along with his regular visits to a local gym, has really helped Brenden bounce back. Brenden is enjoying boxing at the gym, too. Fernando is thrilled to report that Brenden has regained most of his confidence, and is back to his old tricks! Fernando and Brenden are based in WA.
Page 13
Family Stories: Equine Therapies
Lily I really enjoy the calming experience of doing equine therapy and I’ve really gained so much confidence from being around horses. I find that it really shuts off my anxiety and makes me feel more at ease so I’m able to focus and have less anxiety. I think horses definitely have something magical about them! I have Fragile x syndrome myself and since I’ve been doing equine therapy it’s helped me in a lot of ways. Being out in nature is really helpful and I wish I could spend more time doing this as I find it helps me most with my anxiety. I really think it makes a whole lot of difference when you find something that works for you and helps with anything that you might be struggling with. I would absolutely recommend equine therapy to anyone. I’ve definitely gotten to love horses a lot more since I’ve been doing equine therapy. By Lily Lily attends Diamond Blue Stables | Equine Assisted Learning Canberra which provides psychology, skills and leadership development programs through working with horses.
https:// diamondbluestables.com.au
Brody Brody has always loved being around horses. Ever since he was a toddler he loved to visit the stables with his sister. His favorite part was giving the horses some crunchy carrots, but he also loved watching the horses getting groomed and seeing them come in and out for their rides. Brody has participated in a variety of equine assisted therapies, starting at age three when he first started hippotherapy. In these riding sessions Brody was supported by a specialist physical therapist who worked on developing his core strength. We also found that this therapy helped support his speech and language development and social skills as he was always so highly engaged and chatty when he was in the company of horses.
leading them through obstacles, and building an understanding of their needs. Brody is working on exploring emotional awareness, boundaries, thoughts and relationships. Over the years, Brody has always been able to count on horses to support him in the way he needed at that point in time, whether his needs were physical, social, developmental, or mental health. Best of all horses have always been a friend, and always willing to accept one more crunchy carrot! By Leonie Lewis
At around age 7, Brody began participating in Riding for the Disabled. This program has been wonderful, continuing to help him build strength, language and social skills, and also offering a great opportunity for him to develop his confidence as well as experience the enjoyment of riding a horse. He is also beginning to develop some riding skills! Last year, when Brody seemed to be having a tough time with some relationships we sought out Equine Assisted Psychotherapy to help develop his self-regulation skills. Here, supported by a counsellor, Brody spends time outside observing and engaging with the horses,
RDA has centres in every state and territory. See www.rda.org.au
Page 14
3 September 2020 Cal Wallace is not yet two-years-old, but his infectious smile and giggle has stolen hearts as his family raise awareness of little-known Fragile X Syndrome. Cal’s parents, Taylah and Ash Wallace of Ellinbank, had never heard of the genetic condition until their nephew Ryder and niece Zara in Shepparton were diagnosed last year. Taylah, together with her sisters Bree Robinson and Ebony Harper, were found to be carriers and Cal, who was not oneyear-old, was diagnosed with Fragile X Syndrome which can cause a range of physical, intellectual and behavioural symptoms. The early diagnosis will offer the best outcomes for Cal who has already been undertaking physical therapy and soon speech therapy. “He’s had a pretty early diagnosis,” said Taylah. “It’s sort of out of our control. It’s just been going with the flow a bit.” The whirlwind journey has inspired the couple to raise awareness, help other families on the Fragile X journey and hopefully, in future, government funded testing for pregnant women. Fragile X Syndrome is a genetic condition caused by a change to a gene on the X chromosome. It is the most common inherited cause of intellectual disability and most common single gene cause of autism spectrum disorder. In Australia, one Australian child every week is born with Fragile X Syndrome and 20 children every week are born who are carriers of the Fragile X gene. Taylah said Cal was super happy and chilled. He is starting to run and loves kicking a soccer ball. A farm boy, he loves riding on the machinery and helping with the animals. Since the diagnosis about 12 months ago, Taylah and Ash, together with Taylah’s sister Bree Robinson, aimed to run a marathon in March to raise awareness of funds for the small charity Fragile X Association of Australia.
They raised a staggering $12,748. “We weren’t expecting to raise $500. It was more about the awareness than the funds,” said Taylah. However, the marathon, like so many other events, was suddenly cancelled because of the coronavirus. “We’d done all the training,” said Taylah. “It’s a pretty big challenge for us. We do a lot of running anyway, but nothing like that.” The community has rallied behind the Fragile X Syndrome cause including the local footy and netball club. Ellinbank Football Netball Club will hold an awareness round with orange coloured uniforms in 2021. In addition, the netballers wore bright orange earrings throughout July to start Fragile X conversations and the club is running a monster charity raffle over the next month before being drawn on Cal’s birthday - September 28. They have been overwhelmed with support of sponsors with more than 20 prizes including an accommodation package, television and fishing rod and reel up for grabs. “It was quite incredible,” said Taylah of the support from the club. Ash added, “we didn’t expect anything from them”. Of the awareness round, Taylah said “that’s what it’s about, we want people to be aware of these things. We never thought we’d go through something like this.” Having raised just shy of $13,000 for the small charity based in Sydney, Fragile X Association of Australia, executive director Wendy Bruce said the support of the families was “real testament to a strong community”. Ms Bruce explained the charity has only two staff and is very hands-on in supplying information and support to families on their Fragile X Syndrome journey. She praised all involved for raising awareness and generosity of those who have donated funds. If you wish to learn more, visit fragilex.org.au. To donate, visit au.gofundme.com/f/wa8q2-fragile-x-syndrome or for raffle tickets see Facebook page Ellinbank Eagles FNC.
Shoutout to Ellinbank Football & Netball Club for their support! Many thanks to Thomasine Cook for organising the huge raffle fundraiser for Fragile X Association, and to the many local Drouin and Warragul businesses who donated prizes. Page 15
Recent Publications
FXTAS Booklet—online and print versions Men’s Health and the Fragile X Premutation: A guide for carriers, caregivers, and health professionals. This 32-page booklet is focused on the health of men who carry a premutation. It notes that about 40% of men with a Fragile X premutation develop FXTAS, and about 60% do not. It outlines potential health concerns for men who are Fragile X premutation carriers, and notes that men and women are impacted by the FX premutation in different ways. The booklet covers what is the Fragile X premutation, how it is passed through families, provides a summary of the health concerns related to the Fragile X-associated Tremor Ataxia syndrome, and lists the symptoms and diagnostic criteria concerned in making a diagnosis of FXTAS.
Online: https://issuu.com/fragilexaustralia/docs/fragile_x_web Print copy:
support@fragilex.org.au or 1300 394 636
It was prepared by Prof Stephanie Sherman and team in the Department of Genetics at Emory University in the US, who have kindly made this booklet available to the Fragile X community at no cost.
This new book edited by Profs Randi and Paul Hagerman, presents an update on the wide Fragile X field. It is available as a downloadable pdf or as a printed book. The book “is aimed primarily at clinicians and researchers, with some chapters being relatively technical in presentation. But there are also parts that will be useful for educators and families who are seeking an in‐depth understanding of fragile X and premutation disorders. The book is presented in a series of 12 multi‐author chapters, each of which can be read as a stand‐alone review of the relevant topic. Alternatively, reading the book as a whole provides a comprehensive overview of the whole Fragile X field.“ The book “is at its best when dealing with the practical management and treatment aspects of fragile X disorders, as this information is not readily accessible from the published literature. Although the book’s title hints at new treatments, the primary focus of management is adaption of more traditional medical and behavioural strategies to individuals with fragile X disorders. A particular highlight is Chapter 6 (‘Behavioral Interventions for Tantrums, Aggressions, Anxiety, and Mood Instability’), which draws together the broader neurodisability literature as well as the fragile X literature and experience of the authors. More targeted treatments for fragile X syndrome that are currently undergoing clinical trials (e.g. metformin, minocycline, and sertraline) are dealt with only briefly. Published November 2020. Available in print or as downloadable pdf. Cost: 75 UK pounds. Purchase online: https://www.mackeith.co.uk/shop/fragile-x-syndrome-andpremutation-disorders/
A major strength of Fragile X Syndrome and Premutation Disorders is that it draws heavily on the extensive expertise of Randi and Paul Hagerman along with their broad network of collaborators.” Extract from review by Prof David Amor, at Wiley Online Library, re-printed with permission. Page 16
Launched in the US November 2020 Available internationally in 2021
The International Fragile X Premutation Registry was launched in The registry will be online and participants will provide consent the US last month, and is due to launch in other countries including online through a secure database hosted by University of California Australia in 2021. -Davis. The registry will be a list of people who may be interested in taking part in FX premutation research or treatment studies over time. It is intended that it will advance research into premutation health issues, including FXTAS. Individuals who participate in the registry will provide contact information and basic background medical information so that they can be recruited for future research projects focused on the understanding and treatment of Fragile X premutation-associated conditions including FXTAS (Fragile X-associated Tremor/Ataxia Syndrome) and FXPOI (fragile X-associated Primary Ovarian Insufficiency).
An advisory committee of international Fragile X professionals came together to champion the establishment of the registry. The registry has been developed via partnerships with the USbased National Fragile X Foundation (NFXF), clinicians, researchers, and family representatives from around the world. The committee’s Australian representative is Karen Lipworth, a board member of FXAA. Registry efforts are being led by David Hessl of the UC Davis MIND Institute and Robert Miller and Hilary Rosselot of the NFXF.
More information about the registry: See a short video by Dr David Hessl from the UC Davis MIND Institute: https://fragilex.org/our-research/projects/premutation-registry/
Having a registry that includes a large and diverse group of individuals with the Fragile X premutation (as well as family members without the premutation) will greatly facilitate research, including future intervention studies for premutation-associated conditions.
Australia launch in 2021 When the register is available for the Australian Fragile X community to participate in we will put an announcement up on FXAA’s social media and website.
Reproductive Genetic Carrier Screening Funding: Update 1 in 20 people carry the gene change for Fragile X syndrome, cystic fibrosis or spinal muscular atrophy. Most people are unaware that they are carriers for these conditions.
Funding of carrier screening Fragile X Association of Australia has been working alongside Cystic Fibrosis CommunityCare and Spinal Muscular Atrophy Australia and Victorian Clinical Genetics Services for several years to advocate for wider awareness of reproductive carrier screening and for equitable access to screening for these three conditions.
In October 2020 the Medical Services Advisory Committee published its advice to Health Minister Greg Hunt MP that reproductive genetic carrier screening for FXS, CF and SMA be included on the Medicare Benefits Schedule. The Government will consider this request in the context of the federal budget and we remain hopeful of a positive response in 2021.
In July 2018 the Royal College of Pathologists made an application to the federal government’s Medical Services Advisory Committee seeking its recommendation that carrier screening for Fragile X syndrome, cystic fibrosis and SMA be publicly funded through Medicare.
Many thanks to the FXAA members who supported this advocacy in recent years.
New website carrierscreening.org.au Earlier this year a website highlighting carrier screening options for SMA, CF and FXS was launched by Spinal Muscular Atrophy Fragile X Association of Australia provided a letter of support for Australia (SMAA). Printed resources about carrier screening are this application in 2018. As the application progressed in 2020, a being developed with the help of Victorian Clinical Genetics number of our members completed a survey to show their support Service and will be distributed through medical clinics in 2021. for public funding of genetic carrier screening for these three This carrier screening information project is government-funded. conditions. Page 17
Research Matters Survey Reportback
In our May 2020 FX newsletter we invited our members to participate in this COVID-19 research study. More than 35 research organizations worldwide worked together to understand how parents were coping in the early stages of the pandemic, and what changes their families needed to make during the COVID19 crisis. The study targeted parents of children diagnosed with Fragile X syndrome, Autism, ADHD, Down Syndrome, Intellectual Disability, William Syndrome, or other rare genetic conditions. Researcher and visual artist Dr Ru Ying Cai from Aspect led the project for the Australia. Many thanks to our members who participated in the survey. And thank you to Ru and the team for providing this report-back on the experience of children and families during the early stages of the pandemic May-July 2020.
Read more about this study on the ARCAP webpage: https://tinyurl.com/y4tb919t
Page 16 Page 18
Mental Health and Well-being of Children with Neurodevelopmental Conditions or Rare Genetic Disorders Reporting on the Survey Results On behalf of the research team who conducted the study ‘Impact of the COVID-19 pandemic on the well-being of children with neurodevelopmental disabilities (NDD) and their parents’, I would like to thank the Fragile X Association for distributing the survey and all the parents and caregivers who completed the survey. It was an excellent response, and we are very grateful for you taking the time out of exceptionally busy lives to support this work. I am also a carer of a child with a neurodevelopmental disability (NDD). This was unfunded research conducted because our research team felt it important that the voices of families who have a child with a NDD are heard and that the unique challenges they faced during COVID are recognised.
telehealth services worked well for their child. Children with NDDs rely on systems of support, which include families and carers, service providers, and support workers. The results of our survey suggest these systems of support were impacted by COVID and there was significant disruption to home, family and social support networks, and impact on the mental health and well-being of both children with NDDs and their parents. Worsening mental health symptoms, particularly in those with anxiety and ADHD, were coupled with poor diet, sleep and exercise patterns for many children. These impacts could benefit from targeted interventions. Telehealth services appear to have been ineffective for many children with NDDs.
Findings Our research found that COVID had an adverse impact on the health and well-being of over three quarters of children with a NDD (76.9%) and around the same proportion found social restrictions stressful (73.3%). Of great concern was that 64.5% of respondents noted that their child’s NDD symptoms worsened during COVID and parents reported COVID had impacted their own well-being (76.1%). Children were viewing more television and digital media (81.6%), exercising less (68.0%), experiencing reduced sleep quality (43.6%) and had a poorer diet (32.4%) during COVID. Over half of respondents were not satisfied with services received during COVID (54.8%) and less than one-third (30%) reported
Publication A manuscript reporting on these findings has been accepted for publication in the Journal of Paediatrics and Child Health. In this manuscript we note the survey results indicate improved access to and coordination of health services, using hybrid models of telehealth and face-to-face delivery, are required for children with a NDD. With thanks, Anne Masi Postdoctoral Research Fellow UNSW Sydney
Mike Takes on Another Marathon for Fragile X! Mike Tozer had qualified to be in the leading group at the London Marathon on 4th October, based on his excellent times in other runs. Unfortunately COVID-19 intervened, meaning that Mike and many other runners were unable to be in London for the race. For the first time ever, participants were invited to run the London Marathon “their way”, joining up to 45,000 runners up and down the UK – and across the world. So Mike’s virtual Marathon was run in Sydney instead, with weather conditions in stark contrast to what they were in London on the day, and not ideal for a 42km run. The temperature was 15 degrees at 6:30am and was around 21 degrees at the finish. Mike finished up in 2 hours and 45 minutes, though! After the race he reported that it was tougher than he expected but that his support crew was instrumental in him getting over the line, and Helen and Josiah, Mike’s wife and son, cheered him on for the final 3 laps. Mike raised a tremendous $2500 for FXAA!
Iron-on Transfers
Black FX Tote Bags !
Celebrating the FX Lightup! Pack: 1 large (20cm) & 1 medium (10cm) vinyl transfer Cost: $20 per pack (incl GST and postage)
These fabulous bags are thick cotton, and very sturdy! Cost: $25 each (incl GST and postage)
TO ORDER Tote Bags or Iron-on Transfers , contact us: support@fragilex.org.au or or call 1300 394 636 Page 19
Lighting up for Fragile X on 22 July 2020: 64 landmarks across Australia!
Page 20
Light Up 2020 Media Coverage
Page 21
Fragile X Association of Australia Board 2020-2021 At the Annual General Meeting on 25th October 2020, Prof Ted Brown, Graham Hook, Katherine Brown, Mike Tozer and Kate McKeand were re-appointed to the Board to serve an additional term as directors. Dr Cynthia Roberts PhD, a long-standing member of Fragile X Association, was appointed as director.
Podcast!
Prof W 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 is in a financial planning and data insights role with an organisation which provides an online platform that enables people with disability to find the right support workers for them. Adam and his wife Charlotte have a son, Joshua, who has Fragile X syndrome. Adam is based in Sydney and joined the Board in 2019. Graham Hook, Secretary Graham spent the majority of his career in the Air Force and as 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 2015, 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 2016. 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 joined the Board in 2016. Kate McKeand, Director Kate is a disability advocate and mother of two children who have Fragile X syndrome. She has been a 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 is based in Melbourne and joined the Board in 2018. Karen Lipworth, Director Karen is a qualified veterinarian who currently works in the pharmaceutical industry. Karen has the Fragile X premutation and is passionate about raising awareness of Fragile X amongst the medical professions. Karen lives in Sydney and joined the Board in 2019.
Cynthia Roberts PhD, Director Cynthia is a trained geneticist. She has a background in genetic research as well as running a clinical cytogenetics service in NSW and at Genea particularly focused on prenatal testing. Cynthia has a 26 year old son, Daniel, who has Fragile X syndrome and two daughters. Cynthia has been involved with FXAA for many years, and has been a keen fundraiser through the annual City2Surf fun run. Cynthia lives in Sydney and was elected to the Board at the AGM in October 2020.
Page 22
Many thanks to our amazing volunteer Kate Stokes, who created this glorious photo wall to celebrate Fragile X Awareness Day 22 July 2020. Page 23
Supporting the Fragile X Community Our Mission:
Working towards the best possible lives for Fragile X families throughout Australia
Since 1989 Fragile X Association of Australia has been dedicated to improving the health and wellbeing of people affected by Fragile X syndrome and other Fragile X-associated Disorders. We are a member-based organisation and serve the Fragile X community by providing information, knowledge, connections and advocacy, and by offering support.
Helpline operating 5 days per week 9:00am– 5:00pm
Family support and counselling to individuals affected by Fragile X and their carers and families
Uptodate information through our website, newsletter and social media
Referral to services and information resources
Support and discussion groups on social media
Educational events providing the latest on treatments and interventions
Opportunities for people to connect in person and online
Increasing awareness of Fragile X conditions to promote early diagnosis, early intervention and appropriate treatment The underlying principles which guide Fragile X Association of Australia: Service, Respect, Accountability, Evaluation, Compliance
30 Years Strong - Supporting | Sharing
|
Connecting | Informing
Registered office of Fragile X Association of Australia Inc: Suite 204, 20 Dale Street, Brookvale NSW 2100 1300 394 636 www.fragilex.org.au ABN 18 655 264 477 ARBN 626 478 966 Donations of $2 and over are tax deductible. Page 24
Donate online at www.fragilex.org.au