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://vimeo.com/153180849

Jane Tracy_pic 1 for facebook & website_crop
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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Alex | Living proof that you’re never too old to learn!

Alex McBride is a 25 year old man living with Fragile X syndrome.   His mother Sue nominated him for a Fragile X Association Achievement Award in 2015 in recognition of his hard work and persistence in controlling his behaviour and building his independence.

Alex’s efforts have paid off with him now being able to walk to the local shops alone, check out and pay for items at the supermarket and order his own food in cafes and food courts. Before last year, Alex had never left the house alone.

For many people, these may sound like straight forward activities but for people with Fragile X syndrome, many of whom live with severe anxiety, tasks such as these can be particularly challenging.

According to Alex’s mum Sue, anxiety has always been a major issue for Alex and she is incredibly proud of the work that he has done in learning to manage this himself.

“Alex has learnt to use calming techniques such as breathing exercises and positive thinking to manage his anxiety.

He also uses devices that are loaded with music, meditation and visualisation tracks and his favourite TV shows which he can use when he recognises his anxiety increasing and he needs to escape”, explained Sue.

Most significantly, Alex is now able to recognise when his anxiety levels are rising and take steps to prevent it becoming too bad.  This is a major breakthrough as severe and unmanaged anxiety can turn to panic in a heartbeat.

For four days a week, Alex attends a day centre using the fifth day for reading lessons and therapy including some OT to work on fine and gross motor skills, and more recently, monthly psychology sessions.  During these sessions, Alex talks about issues that are bothering him and the psychologist offers various coping strategies and at the same time, encourages him to try new things.

“Since he has been working with the psychologist, Alex has agreed to participate in a number of activities, ones which he has been rejecting for the past 3 years,” said a delighted Sue.

“He now enjoys swimming and bowling, and at home, is making great strides with his reading.

Alex Cooking

He reads newspapers, websites of interest, TV guides and recipes. Cooking is a major interest and he uses the food processor we gave him for Christmas every day”, she said.

As a child, Alex’s parents never forced him to face his fears as a technique to combat anxiety because this just caused extreme anxiety and inappropriate behaviour.

They figured he would tackle new tasks and activities, with help and encouragement when ready.

Now, at age 25, that philosophy has paid dividends as Alex is learning and achieving new things, including practical skills and strategies to help him manage and enjoy his life

It’s a wonderful reminder for us all; you’re never too old to learn.

Thanks to Alex and Sue for sharing his story.

 

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FX info newsletter – latest edition

Our March newsletter has news on a range of fronts:

New Fragile X permutation clinic in Sydney, with a focus on FXTAS

Profile of two winners of the Fragile X Achievement Award in 2015:  Isaac and Alex

Research matters:
*new Fragile X research project on newborn screening test
*papers on testing and screening for Fragile X
* Free FX study

Update on Fragile X engagement in the medical community

Our new Family Support counsellor, Amanda

fx info_March 2016

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Fragile X family story | How I used science to recreate my family history

Paddy and family_sent July 2015_Formal (80)

Patti and her family

In a story provided to the Australian Women’s Weekly, Patti, who is a carrier of Fragile X, shares her long journey to have children unaffected by Fragile X.

” I decided early on that I did not want to have a baby with the genetic disorder Fragile X. It’s not that I couldn’t love a child with a disability, I was just really honest with myself about how I wanted my life to be, and the lives I hoped my children would have.

As a Fragile X carrier myself I have a 50/50 chance of passing it on to my babies, and I did not want to have a daughter who was a carrier, or care for an affected son.  When I made that decision I was naïve about how this journey would affect my life forever.”

Patti’s story was published on The Australian Women’s Weekly website on 6 April 2016 , and is reproduced in full here.  Many thanks to The Australian Women’s Weekly, and writer Danielle Colley.

I decided early on that I did not want to have a baby with the genetic disorder Fragile X. It’s not that I couldn’t love a child with a disability, I was just really honest with myself about how I wanted my life to be, and the lives I hoped my children would have.

As a Fragile X carrier myself I have a 50/50 chance of passing it on to my babies, and I did not want to have a daughter who was a carrier, or care for an affected son.
When I made that decision I was naïve about how this journey would affect my life forever.

My first pregnancy was in my early 20s. I fell pregnant naturally, and had my CVS testing done at 12 weeks. I was expecting a daughter and she was a non-carrier of the Fragile X gene so we went ahead with the pregnancy and welcomed our gorgeous daughter with no complications.

We didn’t know of any other way to go about the process in those days so when we decided to have a brother or sister for her 18-months-later we fell pregnant again naturally and hoped for the best.

I was wracked with terrible morning sickness 24 hours a day from the word go. We had the CVS tests at 11.5 weeks but the results in Queensland took a long time and further testing was required to get a conclusive result.

By the time my results came back showing I was having a girl and she was carrying Fragile X, I was 16 weeks pregnant.

I wondered if perhaps she would just be like me; a carrier but not affected, or if she would be like my sister who is mildly affected? Should I risk it? Should I carry this baby to term?

But in my heart I knew my decision not to carry on the gene was the right one for me, so I decided to terminate the pregnancy.

The late termination required a full 16-hour labour. Through my haze of contractions I was asked if I wanted to see the baby, or get a foot or hand print, but I just wanted it gone. I knew I couldn’t see the baby because it would break me wide open and I wanted to protect myself emotionally.

Even though I knew I was doing the right thing for me and my family, it was still very traumatic and it still hurts my heart to this day.

My brother is affected by Fragile X, as is my uncle, my cousin and so was my nephew. I found out I was a Fragile X carrier when I had a blood test at 12 and further testing before I married confirmed it once more.

The condition affects boys worse than girls, and it is rare that they can live an independent life. Usually the boys become completely affected, whereas girls are carriers although girls can be affected also. When a girl is affected by Fragile X it’s usually much milder than boys. She will often appear slow, but the boys are more obviously disabled.

Their speech is affected and they repeat themselves often and stutter. There is a level of autism, and developmental issues. They can’t drive a car, and holding down a job is difficult. Their lives are greatly affected. Boys with Fragile X are rarely independent when they become men.

After the first termination we took a break for a while, but when we heard about pre-implantation genetic diagnosis (PGD) IVF it seemed like the answer to our problems. I didn’t want to go through that again, and by testing the embryo before it was inside me we could alleviate the risk.

When we were ready, we began IVF. Just as we were about to retrieve my eggs I accidentally fell pregnant naturally. We went for testing at 12 weeks and this time it wasn’t until I was 18 weeks pregnant that a conclusive result came back and it was a boy.

A boy, who had Fragile X.

Deciding to terminate this pregnancy was more black and white this time. His genetic code told me the story that I needed to know to be certain I should not carry this child to term.

I didn’t acknowledge the grief I was consumed with. I knew I made this decision, and I still stood by it so I told myself to just get on with it. I pushed the sadness deep down and refused to look at it.

One day my absent mindedness nearly set the house almost burned my house down when I forgot there was oil on the stove. I knew then I needed help and I started seeing a therapist because I couldn’t understand why I felt so sad all of the time.

I accidentally fell pregnant once more when a condom broke and this time Sydney Fertility Clinic, who knew I’d been to hell and back already, vowed they would make this is easy as it could be for me and we’d rush the tests through. They wrapped me in their professional arms and did everything they could to ensure this journey was as smooth as easy as it could be from here.

My CVS was done as soon as possible, and the positive Fragile X result came back in time for me to have a standard curette termination at 12 weeks.

This time, I vowed I would not fall pregnant naturally again and we would test all of the embryos before they began growing inside me.

My first IVF cycle yielded no viable embryos. I was tired. I lost friends during the process and my sister accused me of playing God, but I really wanted another baby so I decided to have one final round before letting it go.

This round of IVF gave us two viable, non-carrier embryos. The female embryo was not dividing as well, nor as strong as the male, so without hesitation I asked them to put them both in. My husband nearly fell over when I called to tell him, but for me it was make or break time.

One of the embryos survived and nine months later I gave birth to a healthy son. I still hold an ocean of sadness for my experience but my children mean the world to me.

About Fragile X

  • Fragile X syndrome is the leading inherited cause of intellectual disability and single gene cause of autism
  • About 1 in 3,600 boys and 1 in 4000-6000 girls are born with Fragile X syndrome
  • The impact of Fragile X syndrome varies but often includes intellectual and learning problems, delayed speech, anxiety, autism, low muscle tone, poor eye contact and a strong dislike of touch, loud noises and bright lights
  • Fragile X syndrome is caused by a change to one of the genes on the X chromosome. Both men and women can carry the changed gene and risk passing it onto one or more of their children
  • About 1 in 170 women and 1 in 800 men carry the Fragile X gene which, on top of the risk of having a child with Fragile X syndrome, also increases their risk of developing one of two conditions that affect adults who have the change to the gene. These conditions are FXPOI (which causes reduced fertility and/or early menopause) and FXTAS (a neurological condition a bit like Parkinson’s disease)
  • There are several reproductive choices that couples can consider once they know if Fragile X syndrome is anywhere in their families’ history. Testing for Fragile X syndrome is generally by a DNA blood test and if positive, genetic counselling is strongly recommended

As told to Danielle Colley (Australian Women’s Weekly).

The story on the AWW site:    http://bit.ly/23mCrBe

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Manly Wharf’s Bridge to Beach race Sydney supports Fragile X

B2B-2016-logo-with-Fragile-X-OP

Sunday, 28 February.   From Blues Point, under the Harbour Bridge, across to Manly, in time for late breakfast!

“Paddle your way across Sydney Harbour in this must-do event!  Starting from Sydney Harbour Bridge, competitors will paddle across the harbour to finish at Manly Wharf.

Be a member of the excited throng in the midst of the world’s most beautiful harbour.”

Or, be at the finish line in Manly Cove, not far from the Fragile X Association office, to welcome the paddlers back to shore!

Many thanks to Oceanpaddler, a Manly-based business providing paddle boards, surf skis, kayaks, training, and ocean events throughout the year.   Oceanpaddler has invited Fragile X Association to be their charity partner for the third year in a row and we’re really pleased to work with them again to raise awareness of Fragile X.

 

 

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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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