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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Pre-conception carrier screening trial announced by Federal Government

One in 20 Australians carries at least one altered gene that could cause cystic fibrosis, SMA or Fragile X syndrome in their children.

On 8 May 2018, the Federal Government announced a $500 million pledge to the Genomics Health Futures Mission, as part of its National health and Medical Industry Growth Plan.

The first project for the Genomics Health Futures Mission is called Mackenzie’s Mission – a large scale pre-conception carrier screening trial, which will screen 10,000 couples for Fragile X, Cystic Fibrosis and Spinal Muscular Atrophy over  a 10 year period.

According to a news report by the ABC medical report Sophie Scott, “The study is the first step in offering pre-pregnancy genetic screening for all prospective couples.  Under the program, if couples are found to be at risk of having a child with a serious genetic condition, they will be offered financial support for IVF treatment. Under the trial the screening test will be offered to couples at no cost.”

Read more:
ABC News website:  http://www.abc.net.au/news/2018-05-09/budget-genetic-testing-initiative-is-mackenzie-casellas-legacy/9742198

Federal Government Budget Paper: https://www.budget.gov.au/2018-19/content/overview.html

We expect to have more detail about this pre-conception carrier screening trial over the coming months.
Contact us in the Fragile X Association of Australia office:  02 9907 2366

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Prof W Ted Brown has joined our Board

BROWN_WT_6148ColorAdj_crop3The Board of directors of Fragile X Association is delighted to welcome Prof Wm Ted Brown, who has joined the Board.

Prof Brown has been working in the fields of Fragile X syndrome and autism for over 35 years.  He is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, and has relocated to Sydney.

Born in Montana, USA, he received his PhD in Biophysics from Johns Hopkins University and his MD from Harvard Medical School. After training in Medical Genetics at the Cornell Medical School in Manhattan, he was recruited to be Chair of Human Genetics at the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, NY. There he first heard about and began research on the Fragile X syndrome (FXS). Having read the research reports of Australian Fragile X pioneers, Gillian Turner and Grant Sutherland, he and his team set about to identify the first cases of FXS in the eastern USA. They examined 15 males with undiagnosed causes of DD at the Willowbrook State School in NY and found 4 had macroorchidism and FXS. They published a 1981 report in the British journal Lancet highlighting the observation that enlarged testicular volumes could be a very useful screening examination to identify FXS.

He was also the first to publish in 1981 that autism and FXS are associated. His team found 5 of their first 22 FXS cases had a prior diagnosis of autism. This report lead many groups to subsequently look for FXS among males with autism. 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.

Dr Brown met Drs Turner and Sutherland at the first NIH sponsored workshop on FXS in 1983 in Washington, DC.  In 1985, just prior to a second international workshop on FXS held on Dunk Island, Queensland, he went on a one week, two jeep, safari from Cairns along the coast to Cooktown and back through the interior with with Drs Gillian Turner, Randi and Paul Hagerman and their two daughters. Dr Brown has attended most of the 22 international workshops on FXS held every other year, and has attended and presented at many other international FXS meetings.

His laboratory has had a focus on improving diagnostic measures for FXS, including developing the first PCR method for analysis of full mutations. His laboratory has recently developed a sensitive antibody test to quantify the fragile X protein levels in blood spots, which can be used for low cost screening. His clinic was a participant in the recent Fragile X drug trials sponsored by Seaside, Novartis and Roche. He has been the principal investigator on a long-standing CDC sponsored study of the natural history of Fragile X that includes some 26 clinics in the US.

Upon retiring, he moved to Sydney in January 2017 and married pediatrician Dr Jacqueline Small, who runs a Sydney clinic for children with DD. He currently has an appointment as Visiting Professor at the University of Sydney and is doing research with Drs Stewart Einfeld and Stephen Simpson. He is a fellow of the American Board of Internal Medicine and the American College of Medical Genetics. Much of his 35 year research career has focused on the Fragile X syndrome and on autism.

He has also had a long-standing interest in the genetics of aging. Prof. Brown is an authority on Progeria, a premature aging syndrome and was instrumental in the discovery of the genetic mutation that causes this disease. This has led to a treatment trial with a new set of drugs that is showing significant improvement in the children with this dramatic disease resembling accelerated aging.

Prepared for Fragile X Association of Australia Inc, March 2018.

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New Videos! Dr Marcia Braden on Daily Living Skills and Supporting Learning

For BRISBANE FX Community Day details: CLICK HERE

Dr Jonathan Cohen, Dr Marcia Braden

In November 2017, Dr Marcia Braden, eduational psychologist, was in Australia as a guest of Fragile X Association, to run some clinic assessments for children with Fragile X and present at two workshops.  The workshops, in Brisbane and Hobart, were part-sponsored by Chorus Call Australia and the Calvary Hospital Foundation.

Watch the videos of the presentations by Dr Braden, Dr Jonathan Cohen, and other speakers on our youtube channel

  • Daily Living Strategies and Successful Supports for Children and Adults with Fragile X – by Dr Marcia Braden
  • Supporting the Fragile X Learning Style:  Strategies for Success – by Dr Marcia Braden
  • Fragile X: an Update and Overview – by Dr Jonathan Cohen
  • Getting the Best Outcome for Communication – Supporting Language Development – by Melinda Cassells, www.speechie.com.au

All on our youtube channel:   http://bit.ly/2FT5pCV

 

 

 

 

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Employable Me on ABC TV – commences 3 April 2018

Marty Campbell, filmed at home for Employable Me series

Marty Campbell, filmed at home for Employable Me series

‘It’s hard enough to find a job, let alone when you have a disability.’

Employable Me, a new series on ABC TV, produced by Northern Pictures, follows nine participants as their job searches unfold. From the fun-loving Marty, who just wants people to treat him the same as other people regardless of his Fragile X syndrome, to the socially withdrawn Tim, who suffers extreme anxiety every time he leaves his home, and Kayla who has a complex and rare form of Tourette Syndrome.  The job searching results in some truly surprising results.

Watch the trailer

 

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Fragile X disorders – don’t miss them

Expansions in the FMR1 gene cause a family of disorders. Yet Fragile X-associated disorders are often under-recognised or misdiagnosed.

What should GPs and other health professionals be looking out for?

Fragile X-associated disorders: Don’t miss them,  published in the July 2017 issue of Australian Family Physician, is very instructive.

Written by Dr Rachael Cvejic (nee Birch) and Prof Julian Trollor from the Department of Developmental Disability Neuropsychiatry at UNSW (Sydney) and Dr Jonathan Cohen from the Fragile X Alliance clinic.

 

 

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Shaw and Partners Doubles Their Commitment to Match Donations

B2B 2018 Posterv2For the second year running, Shaw and Partners has generously committed to match, dollar for dollar, donations made to Fragile X Association as charity partners for the Manly Wharf Bridge to Beach 2018.

Our fundraising target is $20,000 – to help fund the FX family support service and counsellor.

Last year Shaw and Partners matched the $5,000 raised through the Bridge to Beach race donations.

7s1j6oo3w3e_Sand P image used by OPFor this year’s race Shaw and Partners  has doubled their commitment  and will match donations up to a total of $10,000 (cap) made to our campaign. What a powerful boost to our fundraising!

We’re proud to be the charity partner for this iconic race, and we value the support of our local paddling community and Oceanpaddler highly.
The dollar matching by Shaw and Partners makes a powerful difference, doubling the impact of the donations made through Bridge to Beach 2018.

Fragile X Association of Australia, Brookvale

YOUR DONATION to our Bridge to beach fundraiser this month will also have DOUBLE THE IMPACT, as it will be matched by Shaw and Partners.
Donations of $2 and over are tax deductible.

Let’s go for it, and help raise $10,000 for Fragile X!

DONATE HERE: https://www.mycause.com.au/events/bridgetobeach

 

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Back to school! Guides & tips on the FX learning style and supports

Back to school for 2018!
Children with Fragile X syndrome have a unique learning style, and may face particular challenges in learning, and in the classroom.
A range of resources will be helpful for teachers in the classroom and for parents and carers at home.
Intro Guide Educational Needs_FX Society UK

FX: Introductory Guide to Educational Needs This booklet was produced by the Fragile X Society in the UK. It has a range of tips and strategies for teachers and parents, and focusses on both the learning characteristics and the support needs of children with Fragile X syndrome.
PRINT copies available from Fragile X Association of Australia.  $10 each, including postage & GST.
To order: call 1300 394 636 or email: support@fragilex.org.au
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Top Ten Things a Teacher Should Know About Fragile X syndrome
The #1 thing teachers should know about students with FXS is that they are prone to hyperarousal and anxiety.

This list of top tips will help bring out the strengths of each child and minimize or improve some of their struggles they may encounter.   It’s a handy 1-pager was produced by the National Fragile X Foundation, written by Laurie Yankowitz, who has more than 30 years’ experience working with families of individuals with developmental disabilities.
READ OR DOWNLOAD : Top 10 Things a Teacher Should Know About FXS_from NFXF

 

 

 

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