Study to screen 100,000 Victorian babies for Fragile X syndrome | news article

On Saturday 9 July The Age newspaper in Melbourne featured a story on Fragile X syndrome.

Dr David Godler, from Murdoch Childrens Research Institute is running a very large study to assess the feasibility of including Fragile X syndrome in the newborn heel prick test for babies. The article also featured the Jones family, who have a son, Jimmy, who has Fragile X syndrome.

Extract from the article:

“A groundbreaking test for fragile X in newborns has been developed by a team at Murdoch Children’s Research Institute, and after positive early trials, it is now being used in a pilot study to screen 100,000 Victorian babies.

 

Researchers are using robots to trial the test on blood spots from the heel prick test newborns have at birth to be screened for other conditions, including phenylketonuria, hypothyroidism and cystic fibrosis.

 

Geneticist David Godler hopes the $800,000 study will pave the way for the test to be permanently incorporated into newborn screening, which would mean parents of fragile X babies know within days, not years.”

Link to full article on The Age website:

http://www.theage.com.au/victoria/fragile-x-breakthrough-worldfirst-study-to-screen-100000-victorian-babies-20160708-gq1iye.html

 

 

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The multigenerational impact of Fragile X | video

On Friday 8 July, for FX Awareness month, 7 News Queensland aired a news story focussed on the impact of Fragile X on the McRae family of Brisbane.

Rosemarie has developed FXTAS; her daughters Nyleta and Shelley are carriers of Fragile X, and they have three children with Fragile X between them.

http://yhoo.it/29FbRPD

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The X Factor in INfertility & Neurological Health – Scientific American MIND article

The March 2016 edition of the Scientific American MIND journal included an article about Fragile X syndrome and carriers of Fragile X.about carriers of  Fragile X.

http://www.scientificamerican.com/article/the-x-factor-in-infertility-and-neurological-health/

The article discusses the fact that while Fragile X syndrome is quite rare, the Fragile X premutation “is surprisingly common – with a prevalence of around 1 in 150 women, and one in 450 men.”

It goes on to note that “In the past two decades researchers have begin to discover that the FX premutation is associated with certain health outcomes, including infertility in women and a neurodegenerative condition known as Fragile X-associated Tremor Ataxia syndrome”, first identified by Professors Randi and Paul Hagerman.

The article includes a case study of one family’s story, with several generations of that family impacted by Fragile X:  Fragile X syndrome, FXPOI and FXTAS.

The article refers to the work of Dr Randi Hagerman, Ms Louise Gane, Dr Danuta Loesch from Australia, and others researching in the field.

For the month of July, only, Scientific American Mind will provide open access to this article on their website, in support of July as a key time to increase awareness of Fragile X in Australia, the US, and around the world.

http://www.scientificamerican.com/article/the-x-factor-in-infertility-and-neurological-health/

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Latest FX newsletter: with focus on NDIS, Research and FX Awareness month in July

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This month’s edition of FX info is a bumper edition!

NDIS: A recap of What, When, Where Fundraising for FX:  a raffle, running, riding, stair climbing – and a Half Marathon in a Suit!

Research Matters:
* Recognising the work of Prof Grant Sutherland and Prof Gillian Turner
* Royal Hospital for Women hosts Prof Ted Brown
* Fragile X newborn screening study a focus of Murdoch Childrens Research Institute celebrations
* Research study on FXTAS is seeking new participants
* Free FX Study

Genome sequencing survey by Genetic Alliance Australia Fragile X Association Board – new directors needed in October
And more….

FX clinic

FX Fundraising

 

 

 

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Genome sequencing: what are patients & families’ perspectives?

genome

Genome sequencing is the process of reading a persons’ entire genetic material; their DNA.  It is a  new technology that has the potential to help with the diagnosis of underlying genetic disorders and influence decisions about future healthcare.  However, as with all new technologies, there are a range of considerations that need to be thought through before it becomes fully integrated into the healthcare system.

Through its Australian Patients and Families’ Perspectives on Genome Sequencing project, Genetic Alliance Australia has developed a survey to find out what patients and families think about genome sequencing and its potential impact in Australia.

The survey, together with the results of some focus groups, will become an Australian Patient Charter on Genome Sequencing that will help health policy makers work out how to integrate the technology into our health system.

If you are a parent or carer of a person with Fragile X syndrome, a person with Fragile X syndrome who is over 18 years of age or a carrier of Fragile X, please take the time to complete the survey .
You don’t need an in-depth understanding of genome sequencing to participate as there is a video and case study to read at any time throughout the survey.

The survey takes about 45-60 minutes to complete and will remain open until 5pm (AEST) on 8th July 2016

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Family story: Tracey on a real x factor mission

Tracey Speed and Nathan_DSCF3402_crop

Tracey Speed works at the Public Transport Authority of WA.  As PTA charity champion for May, Tracey hosted activities to raise awareness of FX with the PTA staff and contributed this story to the staff newsletter about her son, Nathan...

“In Australia, one child a week is born with Fragile X Syndrome, but few people know the disorder exists.

N&I contract support officer Tracey Speed is one of those few, and is on a mission to raise awareness of the genetic condition, and its lack of formal funding.

Tracey’s son Nathan Dighton-Speed, 30, is cheeky and funny, works two days a week and loves ten-pin bowling, fishing on the family boat and the Carlton Football Club.

Nathan also has Fragile X Syndrome – a condition similar to (and often mistaken for) autism – which occurs when the X-chromosome is fractured.

“We first realised something was happening when Nathan was around two-and-a-half,” Tracey said.

“While he walked very quickly, his speech was delayed, and it became clear that his understanding and comprehension wasn’t where it should be.”

However, it was not until he was seven that he was formally diagnosed.

“Fragile X Syndrome is quite rare, and it’s also not funded by anyone – organisations like the Fragile X Syndrome Association are entirely self-funded,” she said.

Tracey, who is one of the PTA’s charity champions, will be raising money to support the association during May. It provides specialised assessment clinics, information, support, counselling and workshops for people with Fragile X and their families.

“It’s up to you how you raise children with Fragile X, but we set out to raise Nathan exactly the same as my step-daughter,” she said.

“Nathan has such a cheeky sense of humour, he’s very quick-witted, and he has the biggest heart you could possibly imagine.

“Nathan has taught me tolerance, patience – which isn’t one of my strong traits – and I’ve learned how to actually listen too.”

Tracey also urged all PTA staff to consider how they reacted to people who were a bit different, both in their work and private lives.

“Nathan, like many people with related disorders, gets a bit of a tic when he gets excited – he gets a few strange looks on buses and trains,” she said.

“I would say, when you see or meet someone like Nathan, don’t judge them, accept them for who they are and what they are, deep down they are just like you and me.”

PTA staff: To donate to the Fragile X Syndrome Association, visit fragilex.org.au or email tracey.speed@pta.wa.gov.au  “

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Membership matters! Renewing your membership

 

We’re a member-based organisation, and your membership matters to us!  We’re keen to stay in touch with you to hear how you and your family are faring, and to share news about other members, information, Fragile X research, and events.

Membership renewals are due now for the coming year:  1 July 2016 to 30 June 2017.

To renew your membership, download and fill in the attached form, and:
Scan and email it to us at support@fragilex.org.au
OR
           Post it to us:  PO Box 109, Manly NSW 1655

An easier option!   call us on 1300 394 636 to provide your details over the phone

FXAA Membership Form_to 30 June 2017

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GPs, Healthcare and Patients with Intellectual Disability – video

https://youtu.be/CoG6L0Kba6o

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At the HealthEd GP Education Day held in Melbourne last October, Dr Jane Tracy from the Centre for Developmental Disability Health Victoria gave an excellent presentation titled “GPs, Healthcare and Patients with Intellectual Disability and/or Autism”.

Dr Tracy’s 5 key messages for GPs:

1. People with intellectual and associated disabilities have poorer health outcomes than people without a disability

2. Often other disabilities co-exist, but are often missed or not treated appropriately

3. Understanding the aetiology, or cause of a person’s disability, guides medical care

4. A change in a person’s behaviour is a form of communication, and GPs need to consider all physical and mental health factors that may contribute to the change

5. There are tools and resources available to help GPs mange the health care of people with intellectual disabilities

Accurate Diagnosis is Essential for Effective Healthcare Management

The message she emphasised most strongly was that understanding the aetiology, or cause of the person’s disability, informs the way a GP delivers medical care. She used Fragile X syndrome as an example to illustrate how the diagnosis is so important in helping GPs understand some of the behaviours that a person might show, in guiding the GP to offer genetic counselling for the family, and in making sure the GP regularly monitors for some of the health issues that are often associated with Fragile X syndrome such as hearing and vision problems, under-nutrition and mood disorders.

Dr Tracy also noted that more and more developmental disabilities are being identified as having a genetic basis. But for those people with intellectual disability for which there is no known cause, she recommends GPs conduct a genetic review every five years. At the end of the day, Dr Tracy explained, effective healthcare management depends on accurate diagnosis.

Finally, Dr Tracy alerted GPs to the problems of what she calls the medication spiral.  This can eventuate when a person presents with a change in behaviour that is considered challenging or problematic.  That person is then prescribed medication, often an anti-psychotic.  In time, the person may present with another challenging behaviour change and the medication is increased.  And so it goes on until sometimes, people are on multiple, very high doses of antipsychotic medication with no effect other than a severe impact on that person’s quality of life.  Again, effective management, in this case of behaviour, depends on accurate diagnosis as well as the GP working in partnership with the person, their family, carers and other support staff to understand the behaviour change.

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Thank you to HealthEd for supporting this and presentations at the GP conferences in 2015, which provided us with an unparalleled opportunity to profile Fragile X syndrome to the medical community.

 

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Recommended reading – article by Dr Jonathan Cohen

FX article_Medical Observer pic
Fragile X syndrome_Medical Observer_2012

This 2 part article written by Fragile X expert Dr Jonathan Cohen, Fragile X Alliance and his colleagues from the Murdoch Children’s Research Institute, A/Prof Sylvia Metcalfe and Dr Alison Archibald was published in a GP journal called Medical Observer a few years ago.

It has absolutely stood the test of time and remains one of the most comprehensive summaries of Fragile X syndrome in Australia.

So much so that we have sought permission from Medical Observer to make it available here on our website and distribute it widely through our other channels.

Part 1 looks at presentation and diagnosis and part 2 focuses on the assessment and management of Fragile X syndrome.

It is a fantastic resource for you to share with family members, teachers, therapists, your GP and anyone else you think might be interested to learn more about Fragile X.

Giving high quality information to other people who work with or interact on a regular basis with people with Fragile X syndrome is a great way to increase the overall level of awareness and knowledge about Fragile X syndrome in the community.

By the way, we’d love any feedback and/or suggestions you have on ways we could use this article to help spread the word.   support@fragilex.org.au or 1300 394 636

Many thanks to Medical Observer for giving Fragile X Association permission to share this article on our website, and in print.

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FX Carrier Service with Focus on FXTAS

FX Carrier Family Service, with focus on FXTAS:  at St Vincent’s Hospital, Sydney

The first ever FXTAS clinic in Australia was held in February this year under the auspices of the movement disorders clinic at St Vincent’s Hospital in Darlinghurst, Sydney.  Made possible by the generous support of the Cunningham family, the monthly clinic, with a focus on FXTAS,  is being run by neurologists Dr Sam Bolitho and Associate Professor Stephen Tisch.

It is a dedicated service for carriers of Fragile X and their families.

The clinic will run on the last Monday of each month (with alternative dates when the clinic falls on a public holiday).  It is open to carriers of Fragile X and their families from around Australia, even if the family has signs of or concerns about FXTAS but no formal diagnosis.  There is no cost associated with attending the clinic and the only administrative requirement is a GP referral.

Patients attending the service can expect a minimum one hour consultation with Dr Bolitho with input from A/Professor Tisch.

At present, Fragile X Association is acting as a secretariat for the clinic by liaising with potential families from our member base and coordinating scheduling arrangements directly with the clinic.

Please contact us on 1300 394 636 or email support@fragilex.org.au with any questions or if you would like further information about the clinic.

Dates for 2016:    2 May (April clinic), 30 May, 27 June, 25 July, 29 Aug, 26 Sept, 31 Oct, 28 November

When attending the service, it is important to take the results of any genetic testing and other investigations, eg scanning, as well as a thorough understanding of family history including parents and grandparents.

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