FX Info newsletter September 2019

February September June 201920192017 History Review in the and Making Health InNDIS this edition Family Supports Stories Family Research Stories Studies Lighting Currentup Drug in July Trials FXFXFilms Awareness Month!

Fun Fundraisers and more…...

Our New Website

 NDIS: a recap of what, when, where  Fundraising for FX  Research Matters  Genome sequencing survey  Fragile X Association Boards  And more...

Luciana and Christian

From the President 2019 marks the 30th year of the Fragile X Association of Australia as a national body. Our 30th year so far has been a year in which we’ve continued a strong focus on support to the Fragile X community, raising awareness of Fragile X in the medical community, and the launching of our new website.

Stuart X, which tells the story of Stuart Iredale, brother of former FXAA President Robyn Iredale, has been shortlisted for awards at 4 major Australian film festivals, which is also a tremendous achievement. We are keeping our fingers crossed hoping it will also garner a top spot award.

We are looking forward to the Annual General Meeting (AGM) on 27th October, where we will reflect on the work of the Association over the past year, and have the opportunity to thank all of the volunteers and members who have supported the organization over the past year.

If you are in Sydney on Sunday 27th October, you are invited and are very welcome to join us in the Fragile X office for the AGM, followed by afternoon tea, which will begin at 2PM at Suite 204, 20 Dale Street, Brookvale.

We’re very grateful to the sponsors of these two films, Shaw and Partners and the Kelleher family, and we greatly thank Thibault Upton, who wrote and directed both films.

In that vein, I would particularly like to thank Christine Kelleher and Judith Lenart for their major contributions as Board members. Judith, who joined the Board 5 years ago and served as Secretary and Treasurer, stepped down from the Board recently in order to pursue full time in finishing her PhD and starting a new business. Christine, who has been involved with the Board for more than 20 years in many roles, most recently as Secretary and as a speaker at a range of educational events for FXAA, will step down at the AGM to devote more time to her family.

We are seeking two Board members to join our team, and in particular we are seeking a Treasurer to have oversight of the financials of FXAA. We are very pleased with the feedback on our new website, which was launched in August www.fragilex.org.au. The site presents information and resources about Fragile X in a way that is very easy to navigate for families and individuals who are new to Fragile X. It allows people to become members of the Association or to make donations online.

Many thanks to the Walker Family Foundation and Judith Lenart for sponsoring the website.

The music video Geronimo, written and produced by our former board member Nyleta McRae to a commercial soundtrack by Brisbane-based band Sheppard was designed to deliver key messages about Fragile X, and has been a hit! Launched at the end of July, it’s been watched around 8,000 times already. You can view the video at https://www.youtube.com/watch? v=6sUVH6w_auI on facebook or you can do a Google search for “geronimo celebrating fragile x awareness”.

On behalf of the Board, I would like to sincerely thank all of the families who contributed to each of these 3 films, and thank them for their contribution to increasing awareness of Fragile X. Long time Australian researcher on Fragile X, Dr Gillian Turner, is working on the release of her updated autobiography, which details her discovery of Fragile X gene and all the developments into research on Fragile X here in Australia. FXAA will be facilitating her publication of this book, thanks to the support of the Cunningham family, as well as helping with a new book she is working on about the past and future history of Fragile X.

There is much interest in the upcoming launch in January 2020 of the Federal Government sponsored research project entitled “Mackenzie’s Mission”, whose goal is to screen 10,000 couples considering pregnancy, or in the early stages of pregnancy, for carrier status of SMA, along with Cystic Fibrosis and Fragile X. This I’d like to thank all of the members of the Fragile X genetic screening will also be piloting the analysis of community who have worked to support our organization some 500+ other genetic conditions across Australia. in many ways, and those who have worked to raise FXAA, and the support organizations for CF and SMA, awareness of Fragile X in the general community. have been contributing to the planning for this large scale project. If this research proves successful and cost Our Light up for Fragile X campaign each year goes from effective, it may open the way for Medicare to cover such strength to strength, with 15 significant buildings and screenings in the future. landmarks across the country lighting up orange on Fragile X awareness day on 22 July. It is great to see our Finally, sincere thanks must go to all of the members and American friends, at FRAXA, having great success with friends of FXAA who have helped raise funds to sustain their new “light up teal ” campaign across the States. the service and support we provide to the Fragile X We have been very pleased to continue to work with community; every donation makes a difference.

HealthEd and other organizations to bring added understanding of Fragile X diagnosis and the supports Sincerely, needed for individuals who have Fragile X to the medical community.

We have recently been involved with the development of two Fragile X films, which have been very successful.

Fragile X: 3 Australian families recently received the 4th place award in the Most Online Votes category at the Focus on Ability Australian Film Festival 2019. This was a tremendous result as more than 200 films were submitted to the festival.

W Ted Brown President Fragile X Association of Australia

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Their Tribe, Their Journey, Their Destination Year 8 English student, Luciana Romanski, entered the Australian Catholics Young Journalist Award competition. We were proud to receive the news that her entry, titled 'Their Tribe, Their Journey, Their Destination,' received a highly-commended in her section!

“When her son Christian was two and a half years old, Michelle Romanski found out the devastating news that he had being diagnosed with a disability. “Our son was a healthy, happy boy but was not reaching his milestones that a two-year-old should have reached”, Michelle states.

Michelle and her family decided that the best thing to do was to take Christian to a children’s hospital and get him genetically tested. Christian was then diagnosed with Fragile X Syndrome. This type of syndrome is ‘an inherited genetic condition that causes intellectual disability’.

In Australia, one child per week that is born is fully affected

by Fragile X Syndrome. Symptoms of this disability include lack of communication, anxiety, shyness, aggression and developmental delays. “We were completely heartbroken and devastated as we did not know how it would impact his future.”

There are many challenges that Michelle faces every day seeing her son having difficulties when he comes across simple daily practices such as self-care, communicating, reading and writing. For Michelle and her family, it brings tears and heartache to their lives. “Having a child with special needs is a very difficult, emotional journey as a parent solely because you want the world for your children and you would never want to have to watch them experience life with so many challenges and difficulties.”

Although in these difficult situations, Michelle has claimed that she feels so blessed to have so much support from her family, friends and even the wider community.

“His special needs school, medical specialists, therapists and the love and kindness that has been shown towards my son has helped him reach his potential to his fullest every day, enriching life the way it should be.”

Despite the heartache of having a child with special needs, Michelle and her family have gained so many valuable life lessons from Christian. “Our son has taught us as a family what the true meaning of life is… to be grateful, to show compassion and most of all the true meaning of love.”

Michelle also has a daughter who is not affected by Fragile X Syndrome. As her parent, Michelle never wants her to miss out on life experiences. At times it can be frustrating for Michelle’s daughter as she must accept her brother’s unexpected behaviours. “Our situation truly has shaped our daughter into a compassionate, caring and kind-hearted person whom we are extremely proud of.”

For the Romanski family, there is no doubt that they are living a difficult and different life, but they all have unconditional strength and love for Christian.

“There is no turning back, we all just need to remember to smile at life and enjoy every moment.”

“There is no ‘normal’. Be empathic, help others if needed and treat everyone with the respect and dignity they deserve.”

The Romanski family are on this inspiring journey together, one in which they all never want to disembark.”

Family holiday!

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Luciana Romanski

Review of the Experience of NDIS Participants and Establishment of Participant Service Guarantee The Australian government has announced a review of the NDIS Act and its rules in order to improve the NDIS experience for people with disability, their families and carers.

An outcome of the review will be a Participant Service Guarantee which will set standards for shorter timeframes for people with disability to get an NDIS plan and have their plan reviewed, and for more positive and consistent experiences with the NDIS.

The review will focus on removing red tape and making the NDIS participants’ experience better. The review will The consultation / feedback process is open until be informed by a community consultation process.

31st October 2019.

Have your say on the experience of NDIS participants / carers You can provide feedback on your own NDIS experience or on the NDIS experience of someone in your care.

1. Surveys: for carers of NDIS participants OR NDIS participants  Complete ONLINE, OR PRINT pdf from website and post.  Short “Easy read” version OR Longer version.  Available in several languages.  May take around 45 minutes to complete  Questions cover: Applying to the NDIS; preparing for your planning meeting; The NDIS planning process; Using the NDIS plan; Changing or reviewing the plan; NDIA’s decision making processes & appeals.  Survey closes 31 October 2019 Link to surveys: https://engage.dss.gov.au/review-of-the-ndis-act-and-the-new-ndis-participant-service-guarantee/ndis-participantguarantee-survey/

2. Community Workshops in all capital cities and some regional centres  Face-to-face sessions - 4 hours long, from 10am-2pm  Covering: Your NDIS experience; Improving the NDIS experience; What needs to change  October workshops include: Brisbane 9th. Perth 15th. Sydney 24th. Canberra 25th. Melbourne 28th.

Hobart 30th Link to list of Community Workshops: https://engage.dss.gov.au/review-of-the-ndis-act-and-the-new-ndis-participant-service-guarantee/communityworkshops/

3.

Written submissions to the review, by individuals or organisations  Written submissions can be in any format and any length. Closing date: 31st October.  A discussion paper provides questions to help guide what a written submission might cover: https://engage.dss.gov.au/review-of-the-ndis-act-and-the-new-ndis-participant-service-guarantee/making-awritten-submission/

Fragile X Submission to the NDIS Participant Experience Review and Establishment of a Participant Service Guarantee FXAA will make a submission to the review and will seek input from the Fragile X community.

Please contact Liz Jewell or Wendy Bruce if you:  

Would like to provide input to the FXAA submission on the NDIS Participant Experience review Have questions about the NDIS Participant Experience Surveys

https://www.dss.gov.au/disability-and-carers-programs-services-for-people-with-disability-national-disabilityinsurance-scheme/2019-review-of-the-ndis-act-and-the-new-ndis-participant-service-guarantee Page 3 Page 4

Disability-Related Health Supports Available via NDIS Funding from 1 October 2019

From 1 October 2019 the NDIS will fund specific disability-related health supports where the supports are a regular part of the participant’s daily life, and the need for the support results from the participant’s disability.

1. Consumables (supports that are meant to be consumed through eating, drinking or using)

Fundable Supports The typical types of support available can be grouped into eight ‘support type’ categories (list not exhaustive): 1.

Continence Supports

2.

Respiratory Supports

3.

Nutrition Supports

4.

Dysphagia Supports

5.

Would and Pressure Care Supports

6.

Diabetic Management Supports

7.

Podiatry Supports

8.

Epilepsy Supports

How the NDIA will fund these supports The disability-related health supports funded are grouped into 3 categories:

2. Assistance (supports provided by human being) 3. Assistive Technology (devices or systems) The NDIA will contact participants who are likely to be eligible by letter, email, SMS or phone call over the coming months.

Immediate access to disability-related health supports will vary from case to case, depending on whether a person:   

has recently become eligible for the NDIS has plan being reviewed already has an NDIS plan

Source: Disability-Related Health Supports, Sept 2019 For more information, including a copy of the NDIS Disability-related Health Supports booklet, see: www.ndis.gov.au/understanding/supports-funded-ndis/disability-related-health-supports/disability-related-health-supports-participants

Fragile X This film is a celebration of ability, diversity and inclusion! It premiered at the online 2019 Focus On Ability Film festival. At the awards night in September it was placed in the Top 4 for Most Online Votes. A remarkable achievement as well over 200 national and international films took part in the festival!

Congratulations to film maker Thibault Upton, and the families who were involved!

Fragile X is a short film which tells the story of three Australian families: the Pointon family from WA, and the Roberts family and the Mikkelsen family from Queensland.

Page 6 In this lovely 5-minute film you will meet primary schoolaged twins Zak and Ben; Tom, a teenager who loves music and art; and Zach, a young adult who has a talent for business ideas.

This film was made possible through sponsorship by Shaw and Partners and the support of the Kelleher family.

Liz Jewell with FXAA member Maria Comino at the Focus on Ability awards night

Watch Fragile X on Youtube and Facebook Page 5

Family Support Role

Fragile X Helpline Our Helpline is open 5 days a week 9am—5pm EST for inquiries about Fragile X from the public and from our member base.

Keeping informed about the latest developments in health and disability is key to the Family Support role.

Information gained can then be shared within the FX Community.

Call: 1300 394 636

Liz Jewell

I was fortunate to attend the grant award presentation in Launceston, in July, and be able to thank Calvary Community Council.in person for sponsoring FXAA as a grant recipient. In 2017 the Council supported a FX Community Day in Hobart and individual assessment clinics for FX families in 2017.

Calvary Community Council Members pictured.

Family Support is available to all people in the Fragile X community and can be accessed and provided in a number of ways:– Email: Phone: Face to face:

liz@fragilex.org.au 1300 394 636 skype or, if in Sydney, in person

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

We love visitors to the FXAA office and were thrilled when Richard Morris and his Mum Karin popped in during early August. I promise to improve on my jokes before you call in next time, Richard!

Generation Next held its annual seminar in August on the Mental Health & Wellbeing of Young People.

The seminar included a variety of speakers including a presentation by Dr Jane Tracy on Nurturing Resilience in Young people with Disability.

For more info: www.generationnext.com.au

The A2D Together is a communication tool for people with disability and communication difficulties. A useful folder which can be used for individuals when attending hospital and medical appointments. www.a2d.healthcare

Melissa Raspa PhD and Anne Wheeler PhD (pictured) work closely with Prof Don Bailey from the US and presented an online project related to FX newborn screening at the International Society of Early Intervention conference in June.

It’s a privilege to have been asked to join the Genetic Counselling: Community and Consumer Advisory Group with the Discipline of Genetic Counselling at the University of Technology Sydney (UTS). The opportunity follows from the online Q& A we did with Masters in Genetic Counselling students earlier this year.

National Carers Week is dedicated to acknowledging and celebrating carers in Australia and takes place from Sunday 13 to Saturday 19 October 2019. https://www.carersweek.com.au

Achievement awards 2019

Annual General Meeting

Fragile X Achievement Awards inspire and encourage those nominated, and their family and friends!

Sunday 27th October 2019 2:00-3:00 pm EDST

Past winners have been recognised for their personal achievement across a wide range of areas: sport, art, work, achieving independence, building skills...

Fragile X Association of Australia Suite 204, 20 Dale Street Brookvale NSW 2100

To nominate someone for an Award: email their name and their special achievement to support@fragilex.org.au

And by video conference

RSVP:

Nominations close: Monday 21 October 2019 Awards Announced: Sunday 27th October Page 6

22 October 2019 support@fragilex.org.au

Awareness of Fragile X Increasing awareness and understanding of Fragile X-associated conditions in the medical community continues to be an important priority as we promote early diagnosis and early interventions for the best outcomes.

In 2019 we have been taking a shared message to the Healthed GP education days around Australia. We’re working with Spinal Muscular Atrophy Australia and the Cystic Fibrosis Community Connect groups, together with some genetic counsellors who will be involved in the government-funded Mackenzie’s Mission carrier screening trial (2020) to talk to the doctors about reproductive carrier screening.

In March 2019 the Royal Australian College of Obstetricians and Gynaecologists in Australia and New Zealand released a new statement for their member physicians indicating that doctors should inform their patients about genetic carrier screening. This has increased the level of interest by many GPs and other health professionals in learning more about this topic.

Adelaide, September

Perth, August

Sydney, August

Maternal Child & Family Health Nurses and Early Childhood Intervention We were fortunate to be involved in two very large conferences in Sydney which gave us a unique opportunity to meet with hundreds of participants focussing on early childhood and to talk about Fragile X, diagnosis and support.

Maternal Child and Family Health Nurses Australia National Conference MCaFHNA is the peak professional body for nurses working with parents of children from birth to five years.

Its national conference was held in Sydney over 3 days in August.

FXAA had an information table in a prominent part of the exhibition. This was a terrific opportunity for us to raise awareness about possible early signs of developmental delay and answer questions about testing and general information about supports for children who have Fragile X Syndrome.

International Society for Early Intervention (ISEI) and ECIA Conferences combined Prof Don Bailey, RTI Center for Newborn Screening, Ethics and Disability Studies (US) was keynote speaker on Newborn Screening for Fragile X Syndrome and other Developmental Disabilities on Day 2 of this large conference in Sydney in June.

Don’s presentation drew a lot of interest from the audience and ensured many delegates came to our FX Table which we hosted for the duration of the 3 day conference.

Art therapist interpretation of Prof Don Bailey’s address Page 7

Community Southwest is an alliance of incorporated community service not -for-profit organisations that are based in south west Victoria. As part of its goal to help create and develop a healthy and sustainable community, Community Southwest has arranged for Dr Jonathan Cohen and the team from Fragile X Alliance Clinic to present a 1-day workshop for families, carers, support workers and health professionals.

Workshop: Fragile X syndrome: Improving Support and Care Friday 29 November 2019 8.30am ­– 4.00pm Camperdown Football Netball Club 15 Adeney Street, CAMPERDOWN, VICTORIA 3260 PRESENTERS

PROGRAM OVERVIEW

Dr Jonathan Cohen Parent, medical practitioner

 Overview of Fragile X Syndrome Dr Cohen

Astra King

Parent, neurodevelopmental optometrist  Behavioural Issues -– The 4 A’s: Arousal, Anxiety, Attention & Autism Astra King Clinical psychologist

Beverley Kadish

Paediatric occupational therapist

 Speech and Language Interventions Bev Sher

Beverley Sher

Speech and language pathologist

 Occupational Therapy Beverley Kadish

Rashelle Cohen

 A Young Adult’s Perspective Michael Cohen  Medications and Behavioural Issues Dr Cohen  Visual Issues Rashelle Cohen  Panel and Question Time COST:

Carers Individuals who have Fragile X syndrome Support workers/health professionals

$30.00 Free $125.00

PROGRAM AND BOOKING INFORMATION: Richard Zerbe Community Southwest 0448 505 885 executiveofficer@communitysouthwest.com FXAA website “News” section: www.fragilex.org.au/about-us/news/

CONNECT-FX: Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X —trial enrolment extended This international trial will test the use of medicinal cannabis transdermal gel vs a placebo as a treatment for anxiety in children with Fragile X syndrome.

Participant recruitment is open until late November 2019.

Three sites in Australia are involved: Dr Honey Heussler Queensland Children’s Hospital Brisbane Dr Natalie Silove Westmead Children’s Hospital Sydney Dr Jonathan Cohen Fragile X Alliance Clinic Melbourne More information: Page 8

https://www.connectfxtrial.com/

Lighting up July!

Each year, July 22nd is Fragile X Awareness Day across a number of countries including the US, India, New Zealand and Australia. It’s a great time to celebrate and an opportunity to help raise awareness of Fragile X. This July was another festival of orange across Australia, as major city landmarks were lit in our signature colour.

Huge thanks to Rebecca Mercuri, Graham Hook, Nyleta McRae, and Shane Lyons for making this happen!

In Melbourne—many thanks to Sandy of The Studio Melbourne for taking wonderful photos of the 7 landmarks which lit orange, and to Lise’s Cakes and Bakes who created wonderful thank you baskets for each of the sites, with FX logo imprinted cookies, as a “thank you” from FXAA!

AAMI Stadium, Melbourne

Treasury and Victoria Bridge, Brisbane Town Hall, Launceston

Old Parliament House, Canberra Old Treasury, Melbourne Melbourne Star

Mt Coot-tha, Brisbane

Flinders St Station, Melbourne

Melbourne Town Hall

Exhibition Building, Melbourne

Adelaide Oval Page 9

Bolte Bridge, Melbourne

Fragile XPA Craft Beer Launch and Fundraisers in July

The Fragile XPA event was held on 4th July as part of Fragile X Awareness month. An enormous Thank you to Vanessa Lindsay and her husband Cameron from Lindsio Events who organized the event which was attended by close to 100 people. All proceeds raised were donated to FXAA. A huge Thank you to local craft brewery 7th Day Brewery in Brookvale for providing the venue and for rebranding their XPA beer as “Fragile XPA” for the month of July, and donating $1 from every pint purchased to FXAA. Thank you to Tuned in Therapy for their inspiring performance and encouraging everyone to dance.

Thank you to everyone who attended the fun filled event, who purchased a raffle ticket and made a donation. $2,500 was raised!

A 1-minute video of the event made by Kieran “Spud” Murphy for FXAA can be viewed on YouTube, Facebook and our Instagram page.

Fun and fundraising for Fragile X...

It wouldn’t be Fragile X Awareness month without a screening of Mission to Lars, that amazing film about Tom Spicer and his journey to meet his hero, Lars from Metallica! Phil and Leighee Eastbury arranged a screening in the BaptistCare hall in Newcastle in July. Guests included Prof Gillian Turner, Carolyn Rogers from the GOLD Service, some medical students from Newcastle University, Wendy Bruce from FXAA, and Phil and Leighee’s friends and colleagues.

Many thanks to the team from BaptistCare for their support and an awesome sausage sizzle! And to Pinnacle Films for allowing us to stream the film at very low cost and providing a free DVD of Mission to Lars.

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Fragile X Community Day Brisbane Yet another successful fun filled Fragile X Community Day in Brisbane organised by Nyleta McRae, Candy Costello and team. Full of 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!

The new park venue was a great success, with more people attending. Thank you Nyleta for organising another community event to raise awareness for Fragile X, this one celebrating the 30th birthday of Fragile X Association.

Dr Honey Heusler (centre) from Queensland Children's Hospital was the special guest speaker.

Many thanks to Nyleta’s local member Bart Mellish MP for having a presence and making a donation, and many thanks to the local NDIA representatives for their information stall.

Fragile X Awareness in July Thank you to the very talented Nyleta McRae for her creativity and ingenuity in sourcing special FX beanies, FX printed scarves and designing our new FX bumper stickers!

New Bumper Stickers!

If you would like to have a free bumper sticker please contact us by email support@fragile.org.au or call 1300 394 636.

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High Tea and Lighting Up Launceston

Photo credit: Launceston Examiner Congratulations Shane Lyons and his team for a very successful High Tea fundraiser in July which raised $4500!

Shane is Ben Gower’s uncle, and organised the High Tea and the lighting up of the Launceston Town Hall for Fragile X Awareness month for the third year running. The annual event brings together families from Launceston area and other parts of Tasmania, and other members of the community who support Fragile X. The special guest speaker this year was Ben Hirst, Tasmanian ultra-marathon runner, and ambassador and volunteer for mental health and suicide prevention, Run for Mental Health. Liz Jewell, our Family Support Officer, was able to attend the High Tea and the lighting up, and really enjoyed the chance to meet everyone.

Thank you!

So many people to thank for a fabulous event. Many thanks to Shane Lyons, event MC Jessica Lyons, and of course Millicent Lyons. Thank you Ben Hirst for speaking about mental health, Renee Hodskiss for wonderful photos, Kate Stokes for balloons and artwork, and to the many local people and businesses who donated items for the raffle and silent auction.

Thank you, Charli for arranging face painting for the children who attended.

And finally, a shoutout to the team at Launceston Examiner for once again featuring the High Tea and Fragile X in the newspaper and online.

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Rare Paediatric Diseases Workshop

Representatives from Fragile X Association, Angelman’s Syndrome, SMAA and other patient support and advocacy groups were invited to attend the Rare Paediatric Diseases workshop convened by Dr David Godler and Dr Emma Baker of the Murdoch Children’s Research Institute in Melbourne in June.

Presentations topics included rare disease registries for Prader-Will Syndrome and Angelmans Syndrome; Research Registries in Fragile X; carrier screening for Fragile X, Cystic Fibrosis and Spinal Muscular Atrophy; AXECT (Australian Extended Early Check Testing programs in newborns for 6 rare diseases associated with intellectual disability and autism; the genomics medicine centre experiences with rare diseases at MCRI. Speakers included Prof Don Bailey, Anne Summer and Melissa Raspa from RTI International (US). They spoke about Early Check, the pilot Fragile X newborn screening program in North Carolina, and the use of telehealth in ensuring adequate family followup in expanded screening programs.

Pictured:

Prof Ted Brown (FXAA), Anne Summer PhD, Melissa Raspa PhD, Prof Don Bailey A/Prof David Godler, Dr Emma Baker, Prof Ted Brown

Our New Website went Live in August!

    

Information easy to find Mobile friendly New family stories Online membership forms Online donations

Sincere Thanks to

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

Running Season!

Mike Tozer, our fastest Board member, has won the 10km leg of the Manly Fun Run again for the 3rd year running (pardon the pun).

There was quite a crew in Manly on Father’s Day, on the day running and walking in support of Fragile X!

Congratulations Cynthia Roberts for taking on the Sydney City2Surf once again!

It’s a tough race, up heartbreak hill especially. Mike and Helen Tozer met up with Cynthia at the end of the race.

Fantastic to have this FX presence at the iconic City2Surf each year.

Cynthia raised $5,500!

Congratulations Candy Costello and Nyleta McRae for getting their running shoes on again to head up an Orange Army at the Bridge to Brisbane! And well done Candy for well and truly exceeding her fundraising goal!

Trivia Night and fundraiser!

Many thanks to Kathryn Morris from Canungra who organized a Trivia Night for Fragile X. Kathryn raised funds on the night, and donation were also made.

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Stuart X Stuart X is a short film made for FXAA,and telling the story of Stuart Iredale, brother of Robyn Iredale.

Stuart was born in the 1950's - long before Fragile X was known, and long before people understood the care needed for someone with Fragile X. Stuart spent many years in an institution before being diagnosed with Fragile X. He now has a model of care and support that provides him with an entirely different quality of life.

Stuart X has been entered into several Australian and international film festivals, with the intention of raising awareness of the need for understanding and inclusion of people who have Fragile X syndrome.

Premiering in Melbourne on 21st July at the Melbourne Documentary Film Festival, where it was shortlisted for “Best Short Documentary”, Stuart X has since been shortlisted at the AFIN International Film Festival in Brisbane (October) in the category Best Documentary Short Subject 2019.

It is also shortlisted at the AIFF19 Australian Independent Film Festival 2019 (November) in the “Documentary” category, and will screen at the Sydney Indie film Festival in October.

Congratulations to filmmaker Thibault Upton and many thanks to the Iredale family and Stuart for sharing their story. The film would not have been possible without the sponsorship of Australian wealth management firm Shaw and Partners, and the support of the Kelleher family.

Thibault Upton, Robyn Iredale Premiere of Stuart X, Melbourne

Chasing (another) World Record!

Congratulations Mike Tozer —another world record in his sights! In September he ran a Half Marathon in costume for Fragile X …. Immediately followed by a 3.5km Harbour Bridge Walk Run with his family!

“Yesterday was quite a day for our family at the Blackmores Sydney Running Festival. For our son, Josiah taking on the 4km run over the Sydney harbour bridge was massive. The run was big but for him, coping with the 42,000 runners, the spectators and the noise was a huge achievement.

For my part, I gave the world record my best shot; even with pacing help from David I couldn’t hold the pace past 16km. It got so hot in the polyster scrubs. If I did this record again, I’d find a pure cotton outfit instead. I ended up more than a minute short, but was still the first costumed runner over the line.

It was great to hear all the cheers along the course, mostly shouting “Go Doc!”. The loudest cheers came from the emergency services staff. The one that drew my biggest smile was from a paramedic who shouted “He’s one of us!” It was an honour to wear the uniform for a day, to thank all the doctors and other staff who have helped us along our journey with Fragile X Syndrome.

It was a pretty special moment coming down the finish with my parents Mandy and Chris cheering me on. This is my first race they have been to since I was an undergrad at Oxford 18 years ago and the first running race they have been to.”

Mike Tozer, post-race Page 15

Trivia Night Fundraiser!

What an amazingTrivia Night held in Sydney,at the Manly Golf Club on 28th August. 140 people attended, and had a great night of Trivia, buying raffle tickets and winning prizes. The event was organized by Christine Kelleher and a total of $28,000 was raised on the night including donations and raffle ticket sales!

Congratulations to “Thinking Caps� and their team captains Jane and Doug Rodgers for winning the best dressed table prize. There was some stiff competition!

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Trivia Night Fundraiser: Special Prize Donation Holiday on Orpheus Island, Great Barrier Reef This exclusive holiday prize—5 nights all-inclusive for 2 people and valued at $11,500 was generously donated

by Carolyn & John Tomberlin as a fundraiser for Fragile X Association, for which we are extremely grateful!

(Left to Right) Theodor, Carolyn, John, and Lars Carolyn and John Tomberlin live in wine country in Petaluma, just north of San Francisco, California (USA).

They are the proud parents of Theodor (24) and Lars (19) Toennessen, both young men who have Fragile X Syndrome.

Carolyn works as an Intellectual Property Manager for Collins Aerospace and is a board member of the National Fragile X Foundation (USA).

John is a retired manipulative physiotherapist who trained at the University of Queensland, Australia.

A Super 100 raffle was run for the opportunity to win this holiday. 100 tickets only, priced at $100 each!

The prize, and the Super 100 raffle, was the centrepiece of the Trivia Night evening, with Keiran and Ross ably assisting Liz Jewell with the ticket sales.

Congratulations to the Mr Michael Maher from Manly who had bought the winning ticket!

Carolyn and John said they considered it a privilege to donate this wonderful holiday opportunity to the Fragile X Association of Australia.

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Christine Kelleher and Ted Brown congratulating Michael Maher

Kieran drawing the winning ticket, #65

To Christine Kelleher for organizing the event and acting as MC on the night.

To Doug and Jane Rodgers for generously donating prizes for the best dressed and winning table.

To Diana and Nikolay Shypula from Koshka Media for volunteering their time and taking such beautiful photographs.

To everyone who attended and purchased raffle tickets!

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Dancing All the Way! Nyleta McRae is the drive and creative mastermind behind our unique Fragile X family dance video, set to the sound track Geronimo by Brisbane-based indie band Sheppard.

Many thanks to all of the families from many parts of Australia who contributed to the video!

The band Sheppard kindly granted permission for us to use their hugely popular soundtrack for our video to help us raise awareness of Fragile X.

Fragile X Geronimo is a fun video with fabulous upbeat music, but has some serious messaging intended to raise awareness of Fragile X, including the importance of The band loves the video, by the way! testing and screening, and early interventions.

Watch Fragile X Geronimo on facebook and youtube

Dr. Randi Hagerman continues to travel the globe, educating medical professionals, governments and families about Fragile X. In a recent Travel Blog post Randi was in Japan, and she writes “This is a seminal time to address treatment issues in Japan because Fragile X syndrome and FXTAS have both been identified as ‘designated intractable diseases’ and just this year funding from their National Health Insurance will cover DNA testing for Fragile X so that many more patients will be identified.”

Subscribe online to the Randi on the Road blog post email http://bit.ly/RandiontheRoad Page 18

Fragile X-Associated Tremor Ataxia syndrome Fragile X-Associated Tremor Ataxia syndrome (FXTAS) is an adult onset neurological (brain and movement) disorder which affects some Fragile X premutation carriers in later life, involving unsteadiness (ataxia), intention tremor (shaking) and memory problems.

FXTAS can often be mis-diagnosed as Parkinson’s disease.

FXTAS was identified in 2003 by Prof’s Randi and Paul Hagerman following observation of a pattern of neurological symptoms present in older grandparents and parents of people with Fragile X syndrome, and subsequent research by their teams.

It is estimated that FXTAS affects approximately 45% of men and 16% of women with the Fragile X premutation who are aged over 40 years. The type and severity of FXTAS symptoms will vary among individual people.

Men with the Fragile X premutation are more often affected than women, and have more pronounced symptoms.

How is FXTAS diagnosed?

A diagnosis of FXTAS is based on symptoms as well as findings from a brain scan (MRI) in premutation carriers, together with a diagnosis of premutation carrier status.

What causes FXTAS? It is not yet known why some premutation carriers develop FXTAS, and others do not.

This question is being studied by several research groups internationally, including Dr Danuta Loesch and Prof Elsdon Storey (Latrobe University Melbourne) in conjunction with Prof Randi Hagerman and her team in California. Dr Loesch and the team are seeking volunteers who are Fragile X premutation carriers who are over the age of 60 to participate in the study.

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.

More information: Our website has links to videos and articles https:// www.fragilex.org.au/fxtas/ We also have copies of papers and articles which may be useful to pass on to carers or health professionals.

Call 1300 394 636 or email support@fragilex.org.au

Clinics In Australia two neurology clinics are focussing on premutation carriers who have developed symptoms of FXTAS, or believe they are at risk of developing FXTAS. Neurologists A/Prof Stephen Tisch and Dr Sam Bolitho from St Vincent’s Hospital in Sydney have been seeing FXTAS patients since 2016.

FXTAS Clinic Caulfield Hospital 260 Kooyong Rd, Caulfield

FXTAS Clinic Movement Disorders Clinic 390 Victoria St Darlinghurst

Fridays 9am-1pm Phone: 03 9076 6800

Last Monday of a month 2:00pm-4:00pm Phone: 02 8382 3115 Dr David Szmulewicz

GP referral to: Dr Stephen Tisch

GP referral to: Dr David Szmulewicz

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Dr Samuel Bolitho

Supporting the Fragile X Community

Our Helpline operates 5 days per week 9:00am – 5:00pm EST Family support counselling and referrals Information resources Comprehensive website on Fragile X disorders, including videos Social media, Facebook discussion groups Workshops and seminars Awareness raising and educational activities

Contact Us for Information or Support

Liz Jewell Family Support Counsellor

Wendy Bruce Executive Director

Monday, Tuesday, Thursday

Monday—Friday

liz@fragilex.org.au 1300 394 636

wendy@fragilex.org.au 1300 394 636

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

Donations of $2.00 and over are tax deductible.

Your donation will help us to provide support to the Fragile X community and to increase knowledge and understanding of Fragile X disorders.

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 Donate online: www.fragilex.org.au  Regular donations  One-off donations

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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

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