We’re looking for a Fragile X Social Worker /Counsellor to join our small team

We’re looking for a highly committed person with a social work and counselling background and high level communication skills to join us in providing support to the Fragile X community in Australia.

This is a part-time position, 16 hours per week, based in Manly, Sydney.

The primary role of the Social Worker/Counsellor is to provide referral information, counselling support and advocacy services on behalf of people living with Fragile X, their families and carers, including people newly diagnosed as carriers of Fragile X.

If you’re interested in this position, take a look at the attached position description and give Wendy a call in the Fragile X office if you have any questions:    1300 394 636 or email   wendy@fragilex.org.au

Fragile X Social worker_Counsellor Position Description_5 Feb 2016

 

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Free FX Study: aiming to improve outcomes through earlier diagnosis

 

The FREE FX STUDY

Developing new tests for fragile X and chromosome 15 imprinting disorders: Aiming to improve outcomes for children and their families through earlier diagnosis.

If you have a family history of fragile X-related disorders, or if you are the parent of a child with the fragile X premutation or full mutation, or yourself have been tested and identified to have one of these conditions, we would like to invite you and your family members to participate in the FREE FX study.

What is the research project about?

Fragile X syndrome and associated disorders are caused by an alteration in a gene called FMR1. This alteration is a repeated sequence in the gene referred to as an expansion. This expansion is passed from parent to child and can get bigger. Large expansions in the FMR1 gene (also known as full mutations) can switch off the gene. When the FMR1 gene is completely switched off it is associated with the intellectual disability, behavioural problems and autism seen in fragile X syndrome. In this study we will test a number of new highly accurate laboratory methods which can tell us about a person’s level of the FMR1 gene activity.

We want to find out how early after birth these tests can be used to predict intellectual disabilities, behavioural problems and autism in children and adults who have expansions in the FMR1 gene. We also want to find out why some people with medium expansions in the FMR1 gene develop medical problems while others don’t.

We hope that this research will lead to earlier diagnosis and a better understanding of the needs of families with medium and large expansions in the gene. This may lead to improvements in quality of life through earlier access to intervention programs.

What does taking part in this research project involve?

To take part in this study in Victoria, participants need to be under the age of 42. To take part in this study in New South Wales and Tasmania, participants need to be under the age of 18. Taking part in Victoria involves one visit at The Murdoch Childrens Research Institute (based at The Royal Children’s Hospital). Taking part in New South Wales involves one visit at Hunter Genetics. Taking part in Tasmania involves one study visit at the clinics attached to the Royal Hobart Hospital.

During this visit we will take a blood or saliva sample for some genetic testing and conduct an assessment of your and/or your child’s behaviour, thinking and memory skills, which will involve for example being asked to solve puzzles and remember lists. The assessment will take approximately 3 hours. We will reimburse you a reasonable amount for your visit travel costs to the site of the appointment in order to participate in this project. Alternatively, we can organize a research assistant to come to your home to do the assessment.

For the participants assessed in New South Wales and Tasmania, or for participants assessed at home, the study genetic counsellor may organize a separate time most convenient to the participants for blood or saliva samples to be collected.

What are the possible benefits of this research?

This research will help us to have a better understanding of the problems that are caused by medium and large expansions in the FMR1 gene and may help to develop better treatments and early intervention programs in the future. Depending on the outcomes of the assessments we do for you and/or your child we may be able to discuss with you any potential referral for specific intervention programs in the future. Also, if you choose to, we can provide you with the results of your genetic and psychological testing.

If you would like more information about the project or if you need to speak to a member of the research team please contact:

VICTORIA & TASMANIA:  Chriselle Hickerton or Justine Elliott or Alison Archibald; Research Genetic Counsellors at Victorian Clinical Genetics Service/MCRI. Ph: (03) 9936 6047 or (03) 8341 6209 Email: chriselle.hickerton@mcri.edu.au or Justine.elliott@vcgs.org.au

NEW SOUTH WALES: Carolyn Rogers; Research Genetic Counsellor, GOLD Service.  Ph (02) 4985 3100 Email: Carolyn.Rogers@hnehealth.nsw.gov.au

 

 

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Isaac – Achievement Award 2015

ZooYouth program provides opportunity to volunteer with animals

An inquiry about a school holiday program for Zoo Members at Adelaide Zoo resulted in Isaac Smith joining ZooYouth, a program for up to 60 youth volunteers who work one Saturday a month at the zoo.

As a member of the ZooYouth program, Isaac is involved in a wide range of activities including preparing enclosures for the animals to return to after hours, food preparation, learning about conservation and the environment, and even shovelling poo. However, according to his mother Sue, it is the hands-on tasks that really capture his interest, particularly those that directly involve animals.

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“Being part of ZooYouth has exposed Isaac to so many aspects of life at the zoo. Aside from the physical tasks which he enjoys, he has had some other very special experiences.  He has hand fed a giant tortoise and giraffe, and has been standing in an open plain with bison very close by.   Isaac has even witnessed a procedure on a yellow footed rock wallaby and the treatment of other animals who have been rescued following bush fires in South Australia”, said Sue.

Isaac is 16 years old and was diagnosed with Fragile X syndrome when he was two. He has always had a strong connection with animals and shows great care and empathy for them.

Although Isaac has always enjoyed visiting Adelaide Zoo, and has a natural attraction to animals, his mother felt that he would not be able to participate in the program without additional support, particularly as ZooYouth is run by volunteers who don’t have training in working with people with disabilities.

Isaac and zoo volunteer with turtle

Isaac and zoo volunteer with turtle

However, coincidentally, the Zoo Volunteer Program Officer, who is employed by the zoo to run the ZooYouth program, does have a background in disability and was very supportive of Isaac joining the program with support from his mother.

“After several conversations with the Program Officer, they agreed for me to support Isaac and attend the ZooYouth sessions with him which is wonderful because as far as I know, there has not been a supported member in the program before.

“The volunteers who run the program seek guidance from me on how best to engage Isaac and on which activities are likely to suit him the best. Although they give him more flexibility than they give some of the other members of the program, they are accepting of his challenges, encouraging of his efforts and rewarding of his successes”, Sue explained.

According to his mother, there are so many benefits to Isaac being a part of the ZooYouth program such as working as a team to achieve a common goal, social interaction with a wide range of adults and socialising with a new and different peer group, not to mention the skills he is learning from being in a hands-on environment.

“But what I am most proud of is that on most occasions, Isaac has risen to accept the numerous challenges that have confronted him while participating in this program.

“I have always worked on the theory that I never want to look back and wish that Isaac had been more involved in different activities. What I’ve learnt is that it is easier to lower the bar than it is to raise it.  Give your children opportunities to meet their potential, they may just surprise you, just as Isaac keeps on doing”, says Sue proudly.

Unfortunately the ZooYouth program is not continuing in its current form and will no longer be able to accommodate Isaac’s needs. However, Sue is currently negotiating an alternative way for Isaac to remain involved with the zoo as a volunteer so that he can further develop his skills and continue to expand his knowledge.

Congratulations to Isaac on his Fragile X Achievement Award 2015!

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Newborn bloodspot screening: national policy framework

The Newborn Bloodspot Screening (NBS) Working Group is developing a national policy framework for NBS programs, which currently operate independently in each Australian state and territory.

Fragile X Association took part in a consultation workshop and a national survey to inform the policy framework, as we strongly recommend the inclusion of FXS in newborn bloodspot & other screening programs.

Here’s a great infographic showing a summary of the survey findings, which was released last week.

The draft policy framework is now being considered by Australian Governments; an outcome from this process is expected by mid-2016.

NBSWG_Consultation_Survey

NBSWG_Consultation_Survey

http://www.genomics.health.wa.gov.au/nbspf/

 

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Neuren reports positive results in Fragile X Phase II study

Australia-based Neuren Pharmaceuticals today announced to the Australian Stock Exchange that it has had postive results on their recent Phase II FXS study.

The announcement notes that “positive top-line results provide a strong rationale to move forward with development of trofinetide for Fragile X syndrome.” See Neuren website for full details and a link to the 6-page announcement:
http://www.neurenpharma.com/IRM/content/default.aspx

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Harrison: Achievement Award 2015

Harrison was one of 4 winners of the Fragile X Association Achievement Award, 2015:

Harrison Schmitt_karate_2015

Dedication to Karate Reaps Rewards on Many Levels

Harrison Schmitt, his mother Liz and sister Christa all started karate in July 2013.  But Harrison, who was diagnosed with Fragile X syndrome at age five, was the only one to continue.  Liz and Christa quit after two weeks!

In karate, participants are graded every six months and since starting the sport, Harrison has only missed one grading.  He is currently a blue senior having started on white and then rapidly progressing through the levels of orange, orange senior and blue.

Harrison is now 14 years old and thrives on the routine of karate and the acceptance he receives from the other members of the class.  He particularly loves his instructors and the patience that they show.

His mother Liz is equally delighted with Harrison’s progress and the life skills that karate has helped him develop.

“ Harrison’s motivation for starting karate was to keep up with his sister.  But now that he has been doing it for more than two years, I can see that there are so many benefits.  At karate, there is a culture of kindness, acceptance, patience and persistence.  Aside from giving him the physical skills to deflect and defend himself, it has really helped settle his nervous energy as he feels accepted by his peers and instructors.”

According to Liz, Harrison shows persistence and dedication in all aspects of his life and he understands that he needs to work hard to get what he wants.

“I am extremely proud of Harrison and his ability to smile through his hardships.  I am struck by his ability to strive for something and his willingness to ask for assistance to help him achieve,” she says.

For these reasons, the Fragile X Association of Australia has awarded Harrison with a 2015 Achievement Award. 

He was nominated by his mother Liz because “every day he shows persistence and dedication in all areas of his life and he even does it with a smile on his face.”  When Harrison was in primary school, Liz was told that he would never write.  Harrison now writes, can spell simple words and reads to Liz every afternoon and he is keen to get his driver’s license when he is older.

“Harrison dedicates himself to karate three times a week.  And for a child that just spun and spun every lesson, he has come a long way to be blue senior with the opportunity to grade to yellow belt in a few months,” she said.

Sensei Steven Khoshaba, head instructor at Harrison’s karate school, Khoshaba Dojo, is equally proud of Harrison’s achievements.   “Since Harrison began training with us, he has shown tremendous ability, growth and a courage and endurance that surpasses many of his fellow classmates. Over time, he has improved tremendously.  It has been an honour and a privilege to see Harrison’s transformation and we are most definitely looking forward to many more years together,” Steven said.

Having seen what Harrison has been able to achieve through karate, Liz’s advice to parents of children with Fragile X syndrome is simple.   “Don’t do for your kids what they can learn to do for themselves.  And never give up the hope that one day they will get it.”

 

 

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Out now: FX newsletter December 2015

The end-of-year edition of our FX info newsletter has a focus on getting ready for the NDIS, and profiles the excellent new video resources on our youtube channel.

fx info_December 2015_website

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New! Q&A with Dr Randi Hagerman

Dr Randi Hagerman, paediatrician and world leader in Fragile X treatments, in conversation with Katrina Weir from Fragile X Association of Australia, filmed in Sydney in August 2015.
Randi talks about advances in treatments for Fragile X syndrome, health and wellness approaches for carriers of the Fragile X premutation, and about FXTAS.

 

 

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Videos from Drs Randi & Paul Hagerman workshops in 2015

The presentations from the Fragile X Update in Melbourne in August 2015 with Dr Randi Hagerman and Dr Paul Hagerman are now available as videos on the Fragile X Association youtube channel 

The presentations available:

Dr Randi Hagerman
* New Advances in FXS and Treatments
* Premutation Carrier Involvement and Treatment

Dr Paul Hagerman
FXTAS:  An Older Face of the Fragile X Gene

Cathy Love Board member of Fragile X Association
Local Supports for FXS 
(
profiling the experienced health professionals available in Melbourne, the Fragile X Alliance Clinic, and the counselling service provided by Fragile X Association)

Dr Claudine Kraan
*
 Females who carry an FMR1 premutation: Can research make a difference? (an overview of research in Australia)
 

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Working with Fragile X – video

Using a Social Inclusion grant from the bank BNP Paribas, Fragile X Association recently produced a video called Working with Fragile X.   It was launched at our Annual General Meeting on October 24th, 2015.

 The video profiles employment challenges faced by severalyoung adults with Fragile X who share their views and remind the world that their desire to work is the same as everybody else’s.   The video features Zoe, a visual arts teacher, Rosie, a makeup artist, and Marty, who has been a factory worker.  It also profiles Ross, who works in a coffee shop, and Hugh who works for a liquor store.

Our aim is to foster employment inclusion and improve the prospect of employment opportunities for people with Fragile X.   The intention is to use the video and other material to better inform employment services of the issues faced by jobseekers with Fragile X, and what can make a successful arrangement.   The video was  a key part of the Association’s recent submission to the federal government Department of Social Services Review of Disability Employment Services.

We invite you to watch the video, and to forward it to your family and friends.

Working with Fragile X: 10-minute version:   https://www.youtube.com/watch?v=xHicx0XNTAQ

 

Working with Fragile X: 3-minute version: https://www.youtube.com/watch?v=UsOI3DPM6u0

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