Annual Report 2017-2018

Each year our Annual Report is a great wrapup of the work we’ve been doing to increase awareness of Fragile X in the medical community, to provide support to individuals and families impacted by Fragile X, information about Fragile X-associated disorders, and to facilitate access to clinics.

Here’s a link to the “read online” version of the Annual report 2017-2018:
https://bit.ly/2S3w0Te

Here’s our latest Annual Report in full, including the audited financial statements.

FXAA Annual Report 2017-2018-compressed (1)

 

 

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Fragile X Christmas cards 2018

New Christmas cards for 2018!

Order by email or phone:
support@fragilex.org.au
OR
1300 394 636

 

 

 

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New Board 2018-2019

Following the Annual General Meeting of 11 November 2018, we welcome the new Board for 2018-2019 and in particular welcome two new volunteer directors, Kate McKeand and Wayne Pointon.

Prof W Ted Brown, President
Prof Brown MD is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York. Upon retiring, he moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disability. He has an appointment as Visiting Professor at the University of Sydney. Much of his 35 year research career has focused on Fragile X syndrome and on autism. He was the first to describe a relationship between autism and the Fragile X syndrome. His team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently have provided prenatal diagnosis for more than 1,400 known carriers. His laboratory has developed a sensitive antibody test to
quantify the Fragile X protein levels in blood spots. His clinic was a participant in the Fragile X drug trials sponsored by Seaside, Novartis and Roche. Prof Brown is based in Sydney.  He was re-appointed to the Board at the AGM on 11 November 2018.

Judith Lenart, Treasurer
Judith is an experienced director with a background in business, education and health. She has served on the boards of several companies and charities in Australasia. Judith joined the Board of Fragile X Association in 2014 and has served as both Secretary and Treasurer. She is a registered valuer and has served on the finance committee of CatholicCare Broken Bay, New South Wales. Judith is based in Sydney. Judith was re-appointed to the Board at the AGM on 11 November 2018.

Christine Kelleher, Secretary
Christine has been involved with Fragile X Association for nearly twenty years, including serving on the Board and the executive committee several times.  She is a mother of three adult children, two of whom have full mutation Fragile X. Christine is passionate about seeing the Association succeed and sharing her knowledge of raising affected children within the Fragile X community. She is based in Sydney. Christine was re-appointed to the Board at the AGM on 11 November 2018.

Graham Hook, Director
Graham’s son James is an adult who has Fragile X syndrome.  Graham re-joined the Board in May 2016, having previously served as a director, Vice-President and President.  Graham has also served on the board of Duke of Edinburgh Awards, and Life Be In It (NT). He is a current member of the Australian Institute of Company Directors.  Graham spent the majority of his career in the Air Force and now serves as a business manager within the Department of Defence.   Graham also volunteers with Special Olympics Queensland as a basketball coach for one of the Brisbane teams.  In his spare time Graham enjoys gardening, cultural events, catching up with friends or just being with his wife Amanda.  He is an amateur artist who enjoys doing landscapes and portraits in oils. Graham is based in Brisbane, and was re-appointed to the Board at the AGM on 11 November 2018.

Katherine Brown, Director     
Katherine is English and moved to Australia in 2006 with her husband David. Together they have two children: Samantha is 9 and has not been tested for Fragile X; Andrew is 7 and has Fragile X syndrome. Katherine joined the Board in 2016. She has worked in the finance industry for over 10 years. Before moving to Australia she was supervising a debt recovery team for a stock broker,  representing the company in court during disputed claims. Katherine built on her public speaking experience in 2012/13 before returning to the finance industry in a sales role. She has recently taken up running and likes to run for fitness with friends. Katherine is based in Adelaide and has taken part in several organised running events and has used these events to fundraise for Fragile X Association on several occasions. She was re-appointed to the Board at the AGM on 11 November 2018.

Kate McKeand, Director
Kate is a disability advocate and mother of two children who have Fragile X full mutation. She is based in Melbourne and is a director of a consulting organisation that specialises in supporting and empowering participants in the National Disability Insurance Scheme.  Kate has represented families of children with disabilities on a number of consumer and advocacy bodies, and has presented at a wide range of forums on inclusion of people with disabilities, disability supports and NDIS. Originally an environmental engineer, Kate has experience working in board and management roles in the not-for-profit, government and consulting sectors. Kate loves yoga and the Australian bush, and is attempting to establish a sensory garden at home with the help of her children and husband Stuart. Kate was appointed to the Board at the AGM on 11 November 2018.

Wayne Pointon, Director
Wayne lives in Busselton, Western Australia with his wife Lisa, their daughter Emma (9) and twin boys Ben & Zak (6). Zak has Fragile X syndrome whilst his siblings are unaffected. Wayne has held several senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. Wayne enjoys spending time fishing and camping with his family. Wayne was appointed to the Board at the AGM on 11 November 2018.

Mike Tozer, Director
Mike is originally from the UK and is married to Helen who is from Sydney. They have two children, Josiah aged 6 and Hannah aged 8. Josiah has Fragile X syndrome while Hannah is not medically affected. However, she does point out that she is still indirectly affected as a sibling of a brother with Fragile X! Mike has worked in the technology and social impact sectors for 20 years. He is the founder of Xceptional, a technology services firm that employs people with autism and was featured on the ABC’s ‘Employable Me’ series. Mike holds a masters from Harvard and a BA from Oxford. Mike is also a runner and has recently broken the world record for the fastest half marathon in a business suit! He took on the record to raise funds and awareness for Fragile X in Australia and internationally. Mike lives in Sydney.  Mike was re-appointed to the Board in December 2018.

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Our newsletter for October 2018

Our news and events for 2018, to the end of October.

Covering the visit to Australia by Prof Randi Hagerman, a new FXTAS clinic in Melbourne, a clinical trial in Australia, fundraising and family stories.

 

 

 

FX Info_October 2018_website version

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Clinical trial in Australia: boys & girls with Fragile X syndrome

From September / October 2018 Zynerba Pharmaceuticals is running a clinical trial in Australia in boys and girls with Fragile X syndrome, aged between 3 and 17.  The trial sites are in Melbourne, Brisbane and Sydney.  This a followup to a trial run in Australia in 2017 of a transdermal CBD gel.

The following is provided for information only.

From the Zynerba Pharmaceuticals website:
“ZYN002 is the first and only pharmaceutically-produced CBD, a non-psychoactive cannabinoid, formulated as a patent-protected permeation-enhanced gel for transdermal delivery through the skin and into the circulatory system. ZYN002 is being developed for patients suffering from Fragile X syndrome (FXS) and certain refractory epilepsies including developmental and epileptic encephalopathies (DEE). The FDA has granted Zynerba Orphan Drug designation for the use of CBD as treatment of patients with FXS.”
https://zynerba.com/in-development/

The flyer for the trial has contact details for each of the trial sites in Australia:

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FXTAS clinic in Melbourne

A Fragile X-Associated Tremor Ataxia Clinic has recently opened at AlfredHealth in Caulfield, Melbourne.

The clinic offers help in the diagnosis and management of people affected with FXTAS, and also has a research focus.

The clinic operates on a Friday morning once a month from 8am to 1pm.  A referral from a GP or other medical practitioner will be required.  Bookings can be made directly with the clinic by calling: (03) 9076 6800.


The FXTAS clinic is operated by Dr David Szmulewicz.
David is an Australian Neurologist, Neuro-otologist and medical researcher. He holds a PhD from the University of Melbourne and his clinical and his research interests include work aimed at gaining a deeper understanding of how FXTAS may effect patients as well as future treatment options.

David is the head of the Balance Disorders & Ataxia Service at the Royal Victorian Eye & Ear Hospital, founder of the Alfred Hospital Cerebellar Ataxia Clinic and Lecturer at Melbourne University. David is lead investigator on research to develop objective ataxia metrics, a project defining a new cerebellar ataxia – Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS), as well as the development of an objective oculomotor (eye movement) test of imbalance – the video VVOR.
He is co-director of The Australian Temporal Bone Bank.

David undertook his specialty cerebellar training with Prof Elsdon Storey and currently collaborates on research into FXTAS with both Prof Storey and
Dr Danuta Loesch, both of whom are internationally well known FXTAS
researchers.

FXTAS clinic flyer Melbourne

 

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Annual General Meeting 11 November

Notice of Annual General Meeting of Fragile X Association of Australia Inc

DATE:                   Sunday 11 November 2018
TIME:                     2:00—3:00 pm
PLACE:                Fragile X Association of Australia
Suite 204, 20 Dale Street,  Brookvale   NSW  2100
Followed by Afternoon Tea

RSVP:                    5 November 2018, to  wendy@fragilex.org.au

AGENDA

1.       Welcome
2.       Apologies
3.       Confirmation of Minutes of Annual General Meeting of 26 November 2017
4.       Matters arising from the Minutes
5.       Year in Review and Presentation of Annual Report
6.       Treasurer’s Report
7.       Appointment of Auditor
9.       Election of Board Members
Nominees (see bios below):
           Election
                 Wayne Pointon
Kate McKeand

           Re-election
                 Judith Lenart
Christine Kelleher
Prof  W Ted Brown
Graham Hook
Katherine Brown

10. Announcement of 2018 Achievement Awards
11. Other business

DIRECTOR NOMINATIONS

Director nominations

Wayne Pointon Wayne lives in Busselton, Western Australia with his wife Lisa, their daughter Emma (9) and twin boys Ben & Zak (6). Zak has Fragile X syndrome whilst his siblings are unaffected. Wayne has held several senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. Wayne enjoys spending time fishing and camping with his family.

Kate McKeand   Kate is a disability advocate and mother of two children who have Fragile X full mutation. She is based in Melbourne and is a director of a consulting organisation that specialises in supporting and empowering participants in the National Disability Insurance Scheme.  She has represented families of children with disabilities on a number of consumer and advocacy bodies, and has presented at a wide range of forums on inclusion of people with disabilities, disability supports and NDIS. Originally an environmental engineer, Kate has experience working in board and management roles in the not-for-profit, government and consulting sectors. Kate loves yoga and the Australian bush, and is attempting to establish a sensory garden at home with the help of her children and husband Stuart.

 Director re-nominations

Judith Lenart               (Treasurer, and Co-ordinator of the Board 2018)

Judith is an experienced director with a background in business, education and health. She has served on the boards of several companies and charities in Australasia. Judith joined the Board of Fragile X Association in 2014 and has served as both Secretary and Treasurer. She is a registered valuer and has served on the finance committee of CatholicCare Broken Bay, New South Wales. Judith is based in Sydney.

Christine Kelleher       (Secretary 2018)

Christine has been involved with Fragile X Association for nearly twenty years, including serving on the board and the executive committee several times.  She is a mother of three adult children, two of whom have full mutation Fragile X. Christine is passionate about seeing the Association succeed and sharing her knowledge of raising affected children within the Fragile X community. Christine is based in Sydney. 

Prof Wm Ted Brown    (Director 2018)
Prof Brown MD is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York. Upon retiring, he moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disability. He has an appointment as Visiting Professor at the University of Sydney. Much of his 35 year research career has focused on Fragile X syndrome and on autism. He was the first to describe a relationship between autism and the Fragile X syndrome. His team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently have provided prenatal diagnosis for more than 1,400 known carriers. His laboratory has developed a sensitive antibody test to quantify the Fragile X protein levels in blood spots. His clinic was a participant in the Fragile X drug trials sponsored by Seaside, Novartis and Roche. Prof Brown is based in Sydney.

Graham Hook           (Director 2018)
Graham’s son James is an adult who has Fragile X syndrome.  Graham re-joined the Board in May 2016, having previously served as a director, Vice-President and President of Fragile X Association.  Graham has also served on the board of Duke of Edinburgh Awards, and Life Be In It (NT).  He is a current member of the Australian Institute of Company Directors.  Graham spent the majority of his career in the Air Force and now serves as a business manager within the Department of Defence.  Graham also volunteers with Special Olympics Queensland as a basketball coach for one of the Brisbane teams.  In his spare time Graham enjoys gardening, cultural events, catching up with friends or just being with his wife Amanda.  He is an amateur artist who enjoys doing landscapes and portraits in oils. Graham is based in Brisbane.

Katherine Brown        (Director 2018)
Katherine is English and moved to Australia in 2006 with her husband David. Together they have two children: Samantha is 9 and has not been tested for Fragile X; Andrew is 7 and has Fragile X syndrome. Katherine joined the Board in 2016. She has worked in the finance industry for over 10 years. Before moving to Australia she was supervising a debt recovery team for a stock broker, representing the company in court during disputed claims. Katherine built on her public speaking experience in 2012/13 before returning to the finance industry in a sales role. She has recently taken up running and likes to run for fitness with friends. Katherine is based in Adelaide and has taken part in several organised running events and has used these events to fundraise for Fragile X Association on several occasions

Fragile X Association Annual General Meeting 11 November 2018_notice and nominations

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New videos: Q&A with Prof Randi Hagerman


In August and September 2018, we hosted a series of presentations by Professor Randi Hagerman, Medical Director of the MIND Institute of UC Davis, California.

LECTURES:  Dr Hagerman’s lectures were videod and will be available on our youtube channel soon.

Q&A VIDEOS: Dr Hagerman was also filmed for a series of short Q&A videos on topics related to Fragile X. All available on  our youtube channel.

1. Living with Fragile X syndrome  is the first video in the series and covers dealing with diagnosis, treatments for Fragile X syndrome, school, puberty, and living independently.

2. Health issues for carriers of the Fragile X premutation (Carrier health: part 1).
There are a variety of health issues premutation carriers can experience, and which are much more common than FXPOI or FXTAS.  They include anxiety, depression, sleep disturbances, and pain problems such as migraine and fibromyalgia.  Dr Hagerman talks about the need to recognise these health problems – with their new name FXAND –  so that doctors understand their association with the premutation and that they require treatment.

3. Health and wellness for carriers of the Fragile X premutation (Carrier health: part 2)
Strategies for maintaining health and wellness.  What to avoid, and what to focus on.

4.  Targetted treatments in Fragile X syndrome (Part 1)
Prof Randi Hagerman talks about some of the targetted treatments for Fragile X syndrome, including SSRIs and metformin. (In Pt 2 Dr Hagerman will talk about new treatments being studied in clinical controlled trials.)

Videos 5-6 will be posted from 24 October 2018

 

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Annual General Meeting and Call for Board nominations

Annual General Meeting 2018

Our members and friends are invited to our 2018 Annual General Meeting.

Date:  Sunday 11 November 2018, 2:00-3:00pm
Place:  Suite 204, 20 Dale Street, Brookvale NSW 2100
RSVP:   wendy@fragilex.org.au

Members outside Sydney can join the meeting by phone or by Zoom.
Dialin details will be made available closer to the date.

The notice for the Annual General Meeting, including the agenda, will be posted online and to members by email in October.

Call for nominations for the Board
Members interested in joining the board of volunteer directors may be nominated.
The maximum number of directors is 8.

Nomination process:
1.   Complete the attached nomination form which requires a nominator and a seconder, both of whom must be members of Fragile X Association
2. Return the completed form by close of business on Friday 12 October 2018.
To:  wendy@fragilex.org.au
3.  Nominations will be presented to the AGM on 11 November and voted on at that time.

FXAA Board nomination form 2018

If you have any questions about the Board or the nomination process, please contact Wendy Bruce on 1300 394 636 or by email:  wendy@fragilex.org.au

 

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The Latest on Fragile X | Dr Randi Hagerman in Melbourne 27 August & Sydney 3 September

It was a great pleasure to welcome Dr Randi Hagerman back to Australia!   Dr Hagerman was last here in 2015.

Dr Randi Hagerman presented on the Latest on Fragile X  –   in Melbourne at the Royal Children’s Hospital on 27th August, and in Sydney at the Garvan Institute of Medical Research on 3rd September.

Dr Jonathan Cohen from the Fragile X Alliance also presented at the Melbourne event.

Videos of some of the presentations will be made available on our youtube channel, and Dr Hagerman also made a series of brief Q&A videos, also on youtube.

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