July 2015 Newsletter

fx info July 2015

1300 394 636 (free call)

In this edition:           

Fragile X Awareness Day! Dr Randi Hagerman and Dr Paul Hagerman - Fragile X Updates in Melbourne, Perth & Sydney Dr Marcia Braden’s workshops on education and behaviours in Fragile X Boosting Awareness of Fragile X through GP education days and conferences Family stories: Ethan and Logan; Janey Levy; Harry and Tommy Newborn Bloodspot Screening: proposed national program University research projects on Fragile X, and on carers Understanding Fragile X brochure available Fragile X Association - we’re seeking new Board members Employment inclusion - Fragile X Association submission to government Shoutout to our supporters!

We’re on youtube Videos we’ve made, or that we just like!

Page 1

July 2015

Fragile X Association of Australia

Lots of orange ribbons & posters at Red Frog and MoveAbout in NSW, and Kids Are Kids in Perth.

Lara, from Emerald North State School, Qld

A very ORANGE morning tea for Candy Stingel and her work colleagues in Brisbane!

Oak Flats Falcons youth grade wore orange armbands Page 2

July 2015

Fragile X Association of Australia

  

      

Triabunna State School in Tasmania and Emerald North State School (Central Highlands) Qld who had special events for Fragile X day Carers ACT, Carers QLD, Carers VIC, Carers NT, Carers SA, Carers NSW and Carers Australia for helping to spread the word about Fragile X Rare Voices Australia, the Victorian Clinical Genetics Support group, Genetic Alliance in NSW, and the Genetic Rare Disease Network of WA for sharing our FX family stories via social media Therapy centres who spread the word: Red Frog: For Families, MoveAbout, and Kids Are Kids Shante Sweeney and Sue Bride who posted Fragile X facts each day on facebook Virtual Walkers - Daniel’s Crew in Wollongong, and Matthew Bowen & family in Tasmania Candy & Nyleta for raising another Orange Army for the fun run in Brisbane in August Stephen Baric at www.stephenbaric.com for making our beautiful posters again, at no charge Huge thanks to Amanda Keller for making us a short video promo for FX Day And, most importantly, thank to you everyone who shared their family photos for our fabulous posters, and their family stories.

Amanda Keller made us a video ad for FX day!

Kurt & his class made Fragile X chromosomes with pipe cleaners

Sandra Sully re-tweeted to her 97,000 followers Channel Ten Perth sports newsreader Tim Gossage wore a VERY orange tie for FX

Daniel’s Crew in Wollongong raised $1,000 on their Virtual Walk Page 3

July 2015

Fragile X Association of Australia

Marcia Braden on Education & Behaviours

In March, Fragile X Association and Fragile X Alliance hosted Dr Marcia Braden’s visit to Australia. Marcia, from the US, is a renowned expert in education and behaviour management for children and adults with Fragile X. She led 1-day workshops in Melbourne and Sydney. Dr Jonathan Cohen introduced each workshop with a presentation on Fragile X syndrome and diagnosis, and on its associated conditions FXPOI and FTXAS. At the Melbourne workshop Astra King, who is part of the Fragile X Alliance team, spoke knowledgably about allied health professionals and other support available in Melbourne for families affected by Fragile X. Bev Kadish gave a lively and useful presentation on sensory processing and behaviours.

Michael Cohen gave an insightful presentation into his life as a young adult with Fragile X, and what helped him at school in terms of curriculum modification and, equally, what didn’t help! He spoke about his experience in training, and in finding employment.

The slides from Maria’s and Bev’s presentations are available on our website: www.fragilex.org.au Many thanks to ICAP Charity Day 2014, for donating $5,000 to Fragile X Association, specifically for the purpose of providing a Fragile X workshop and associated clinic.

Thanks to this generous donation, Fragile X Association was able to co-sponsor Marcia’s visit with Fragile X Alliance.

Q&A with Marcia Braden - on youtube While Marcia was in Sydney, we took the opportunity to sit down with her for Q&A. We asked her a range of questions on education and on behaviour management for adults and children with Fragile X. Marcia’s responses to our questions are helpful and practical, so that most parents and carers are likely to find a strategy or insight that strikes a chord.

It was a great way to capture all of Marcia’s knowledge and experience in these areas. The Q&A video is a fantastic resource for the Fragile X community - it’s available to view or download from our youtube channel.

Katrina Weir (FXAA), Dr Marcia Braden, and film maker Thibault Upton

Page 4

Many thanks to film maker Thibault Upton for producing this video at no cost to us.

July 2015

Fragile X Association of Australia

Book now!

Page 5

July 2015

Fragile X Association of Australia

Thank you to our supporters!

In June Fragile X Association was invited to present to the members of the Rotary Club of Ryde to increase awareness of Fragile X syndrome and Fragile X related conditions.

Robyn gave an overview of her family’s journey, and the achievements of her adult son Marty, and her brother Stuart.

Many thanks to Rotary for the opportunity Kalma McLellan, Rotary Ryde President, with Robyn Iredale, FXAA

Katherine Brown and team!

Last year’s Orange Army was very impressive!

Will Candy, Nyleta and the team better it in 2015?

Sunday 30th August

The social club from the Auditor-General’s office donated money raised on a “casual Friday” - choosing to support a small and “grass roots” organisation rather than one of the larger charities, they said.

Thank you to HotAir for providing us with free conference calls for board meetings in June & July for FX Awareness month

Shante Sweeney put another team together for Run for a Reason in Perth

For the 3rd year in a row Cynthia Roberts will take on Sydney’s iconic City2Surf. Sunday 9 August.

Cynthia’s goal is to raise money to help fund the work of Fragile X Association. At the time of going to press Cynthia had raised an amazing $2,200.

Cynthia has been a member of Fragile X Association for 19 years, since Dan was diagnosed with Fragile X. Read Dan’s story on our website: http://fragilex.org.au/dan-and-disneyland/

s Page 6

July 2015

Fragile X Association of Australia

Raising Awareness of Fragile X within the Medical Community Fragile X Association Getting Out and About Over the last three months, planning for Fragile X Association to participate in a range of conferences has consumed a large proportion of my time. Being involved in professional conferences means that we can reach a large number of professionals who are involved in the early identification, diagnosis and/or management of individuals affected by Fragile X, and their families, in a single location which is both time and cost efficient.

Katrina Weir

What does ‘being involved’ actually mean? Well, like most things, the answer is, it depends.

In April, we secured a speaking engagement for Fragile X syndrome expert and education consultant Dr Lesley Powell at the Maternal Child and Family Health Nurses conference in Perth. We were keen to be involved in this conference because Maternal Child and Family Health Nurses are such an important support service for mothers and young children and well placed to detect early signs of developmental delay in infants. Aside from Dr Powell’s presentation, which was very popular and standing room only, we also provided a brochure that formed part of the materials given to every attendee.

In April we were exhibitors at the Early Childhood Intervention Australia (NSW Chapter) conference held in Sydney. We had our own exhibition table with display material, books, DVDs and other resources, our Fragile X Association of Australia banner and a specially made video featuring images and important messages aimed at educating this important audience about Fragile X syndrome.

Again, we also provided a brochure as well as a fact sheet about the importance of early intervention for children with Fragile X syndrome to all 330 conference delegates.

And look who we ran into!

Katrina with John Ajaka, MP Minister for Disability Services NSW

August is shaping up to be a very busy month with the first HealthEd GP Education Day as well as Professor Randi Hagerman’s visit to Australia, where she will be speaking at the Neurodevelopmental and Behavioural Paediatric Society of Australasia (NBPSA) conference as well as Fragile X Updates for families.

HealthEd is a GP training organisation that holds a one-day GP Education Day in Australian major capital cities each year. Fragile X Association has secured a speaking spot at each of the HealthEd seminars starting with Sydney on 22nd August and finishing in Perth on 7th November. Each of our very highly-qualified and experienced speakers will present on intellectual disability and autism in general practice and include some information on Fragile X. Aside from the face-to-face presentations, this connection with HealthEd also allows us to provide information to a huge number of GPs in the lead up to the events. Dr Jonathan Cohen has helped us to write some articles about Fragile X. We have also condensed our Understanding Fragile X DVD with a new version that focuses on key information that GPs need to know about FX. Over the coming months these materials will be distributed to 15,000 GPs across Australia.

And finally, the NBPSA conference in August. This will attract around 350 delegates, most of whom are paediatricians from Australia, NZ and some parts of SE Asia.

Professor Randi Hagerman is a keynote speaker and Fragile X Association is a sponsor of the conference. We will have an exhibition stand and provide information about Fragile X in the paediatricians’ conference satchels.

Many thanks to A/Prof Natalie Silove from Westmead for this opportunity.

We are extremely excited about the opportunities available to us between now and the end of the year and feel we are making some great inroads into raising awareness and understanding of Fragile X syndrome among medical and allied health practitioners.

Page 7

July 2015

Fragile X Association of Australia

s

Family Story: Ethan and Logan

By Maria Goss, Perth I have learnt more during my son Ethan’s first four years of life than I could have ever imagined – valuable lessons that can’t be taught from books.

Maria, Logan, Ethan and Luke Goss

Ethan was diagnosed with Fragile X Syndrome on December, 3 2012. After months of searching for answers as to why he was so delayed in his development, our fabulous paediatrician sent us for a variety of blood tests and a MRI scan – all the while hoping we wouldn’t actually find anything.

At first we thought all was well as the first round of blood tests and his MRI came back all clear... there were a few more results to come in but we were fairly confident all would be fine and with time and therapy Ethan would eventually catch up to all of his little mates. Our lives drastically took a turn the day our paediatrician’s office called me on a Saturday morning asking us to come in first thing Monday. As most parents know – the usual wait time for an appointment can be at least a month if not more – so being rushed in to see him could only mean one thing – they had found something.

My husband and I were pretty nervous waiting to see Ethan’s doctor – waiting is always the hardest part. I will never forget the words that followed next... ‘We have an answer as to why Ethan is so delayed. He has Fragile X Syndrome – full mutation’. Just like most people – Luke and I were thinking Fragile What? Our doctor gave us a brief run down on what this meant and that it wasn’t a short term condition – Ethan would face challenges for the rest of his life.

Simple things that most of us take for granted – talking, playing sport, driving a car, getting a job, moving out of home, getting married, having children – these things now were more unlikely than likely. We were devastated! All the hopes and dreams you have for your child just seemed to be washed down the drain, and it was done so in a matter of seconds.

So what did all this mean for us? As Fragile X is an inherited intellectual disability and the X gene is only passed onto a son from his mother, we knew then and there that I was a carrier of the gene. Before that day neither one of us had ever heard of Fragile X or had any indicators that this was in our family history. As most parents can imagine, it has been a hard pill to swallow – knowing that I am the carrier and I have passed this gene mutation onto my son. It took me a long time to accept that being a carrier isn’t my fault or something I had any control over. There are still days when that is harder to accept than others.

What this also meant was that there was a 50% chance that I had also passed the gene onto Logan our second son – who at this stage was only four months old and already developing so differently to Ethan. We along with our doctor were pretty confident he was fine. Just to be sure we decided to get him tested. It also meant that my sisters, parents and other family members have also needed to be tested so we can start putting together the family history and hopefully give people the gift of knowledge of being a carrier before they have children.

One of the most frustrating parts in the whole testing process is the wait for the results... five months after Logan’s bloods were taken and after many phone calls from me questioning what was taking so long... we received the phone call no parent wants to receive. Confirmation that Logan too has Fragile X – full mutation. This news rocked us to the core and for a long time made us both pretty angry. Seriously both of them? It just didn’t seem fair. I think Logan’s diagnosis hit us a harder because with Ethan we were in search of answers, however with Logan it caught us completely off guard.

Soon you realise that being angry doesn’t make things better and it wasn’t going to change their results. So we shed our tears, took some time out and educated ourselves on what the future held for our family. The best decision we have made to date was getting our boys into the Early Intervention Program run at Kids are Kids! Therapy Centre. At Kids are Kids we work together with a team of dedicated, enthusiastic and talented therapists who are focussed on working with us to help our little guys develop to be the best they can be. We have seen some huge improvements in both boys and every milestone met no matter how great or small is celebrated.

Page 8

July 2015

Fragile X Association of Australia

Both our boys have very different personalities and challenges, individual likes and dislikes. That is the thing about Fragile X – the severity between each individual can vary from person to person, even within the same family.

Ethan recently had his fourth birthday. He is my lovable giant. He has such a gentle nature, the most infectious giggle, a love of water, being outside and watching Garfield. He loves buses and trains and listening to his favourite song, over and over again.

Although Ethan’s biological age is four, his developmental age is more like 18 months. He is extremely delayed in all areas including his speech, fine and gross motor skills and also his level of play. He is still in the first stage of play which is cause and effect, doing something and getting an immediate reaction – he doesn’t understand how to play which often leads to toys being thrown around the room. He also struggles greatly with his anxiety and becomes very frustrated and overwhelmed throughout the day or in loud and busy environments. The simplest task – like getting out of the car and moving into the house is often quite the challenge. Fragile X takes away his ability to forward plan and know what is coming next which is what leads to the meltdowns.

Logan is two and a half. He is my mischievous little monkey. He is quite social and always wants to be a part of the action. I always tell people he is the bossiest two year old without words. He is determined and once he has his mind set on something he just won’t give up. He too loves playing outside, listening to music and dancing to the Wiggles.

Logan isn’t as delayed with his development as Ethan but compared to his peers he is still a fair way behind.

Although he doesn’t talk yet, his words are really starting to come which is very exciting.

Logan doesn’t seem to have the anxiety that Ethan struggles with however Fragile X makes it difficult for Logan to regulate his emotions. He is extremely emotional and becomes very upset over the smallest things – at times a little dramatic. People with Fragile X always want to make you happy and please you – so when they upset you it devastates them.

Together they are the best of mates and quite the team, always getting up to mischief and although not a word is spoken between them they know exactly what the other wants. It is actually quite amazing to watch them interact and communicate in different ways.

Whilst they are so different and face different challenges they still have so many things in common: their love of food, watching the Wiggles, playing on the trampoline, going to the park and bath time. They have the most infectious giggles and smiles that light up any room. They are such happy little boys who bring so much sunshine and joy to everyone’s lives.

Yes we have our challenges and trying times. Days that are harder than others. Moments filled with frustration and melt downs. Heartbreaking moments watching your little one become so overwhelmed in a situation that you just want to take away their pain… but we also have a lot of great days. Days that are filled with lots of laughter, playing games and enjoying the simple things. There is no greater feeling than watching your little one learn something new.

They are constantly amazing us and making us proud with each and every new milestone they meet.

Since that day of first hearing the words Fragile X, over two years ago now - Luke and I have learnt a lot and through our journey we have helped educate so many people along the way - our family, friends, neighbours and even strangers we meet in the shops.

At the end of 2013 I decided to start the Think Foundation X Foundation with the aim of raising awareness and understanding about Fragile X in the community. I knew that I couldn’t just sit back and do nothing, I had to turn this negative in our lives into something positive and try and make a difference. We host fundraising events throughout the year and donate all the money raised to a charity organisation who help people living with Fragile X. We have now hosted two Gala Dinners, our first dinner was in 2014 where we hosted 320 guests at The Rise Function Centre and raised $80,000 which we donated to Kids Are Kids Therapy Centre in Perth. These funds are going towards establishing a large, dedicated and fully equipped Physiotherapy Room, a therapy room for Occupational Therapy services and warm and inviting Reception area for families, making it a more comfortable place to wait and catch up with other families and therapists.

Page 9

July 2015

Fragile X Association of Australia

Earlier this year we hosted our second Gala dinner at Crown to a sell-out crowd of 520 people. Once again we were blown away with everyone’s generosity as we raised an amazing $165,975. These funds will be going towards building a purpose designed Sensory Wing at Kids are Kids. The plans are currently being put together and I can’t wait to see it all come together. I just know the Sensory Wing will help all the kids who go there for therapy.

Someone once told me that this is a great day and age to have a child with special needs and I have to agree. We have met the most wonderful doctors and therapists along our short journey with our boys and every day is filled with hope and new discoveries.

Ethan and Logan have taught me the value of living each day to the fullest. They teach us to laugh at ourselves and to try and not take life too seriously. They remind us that a childlike outlook is the best way of keeping life in check.

As a mother, they have given me the strength and wisdom I didn’t know I had. They remind me what is most important in life. They have helped me realize that I’m here to make a difference in the lives of others. They teach me to listen – not with my ears, but with my heart because that is where the most precious messages are heard.

They help me to look with eyes that do not judge, because below the surface we are all a little fragile.

Family Stories Ethan and Logan is a part of a series of family stories posted on our website and our Facebook page.

Thank you to each family who has shared their story.

If you’d like to share your story, get in touch : wendy@fragilex.org.au

Micah

Miriam

Jimmy Clements boys

Dan

Christian Page 10

July 2015

Hayley Fragile X Association of Australia

Newborn Bloodspot Screening - Proposed National Program

By Pam Montgomery, Board member of Fragile X Association of Australia (FXAA) Background Currently in Australia, Newborn Bloodspot Screening (NBS) programs screen for over 25 conditions that can be serious and life threatening, enabling early diagnosis and treatment. Fragile X is not one of the conditions included in the current screening programs.

The programs are funded by State and Territory governments and operate independently in each jurisdiction. There are currently no national policies agreed by governments to support NBS. Pam Montgomery

Newborn Bloodspot Screening – National Program In 2013, Australian Health Ministers agreed to the development of a national policy framework for NBS and a Newborn Bloodspot Screening Working Group (NBSWG) was established to develop the framework.

FXAA was represented at a recent NBSWG consultation workshop that considered the policies and practices required to support a national NBS program. Several critical needs for the NBS program were identified and included:  having a clear screening pathway that incorporates all healthcare providers;  that families are supported across this screening pathway;  that benefits to the child and families are a focus of screening;  that the programs are adequately funded, responsible, cost-effective, high-quality and monitored.

There was also discussion about potential decision-making criteria that could be used to assess conditions for inclusion in NBS highlighted, including that:  decision-making criteria need to be clear and easily understood by stakeholder groups;  they should also enable consideration of the benefit to the baby when assessing the appropriateness of screening a condition, as well as benefits to the family and society.

Next steps The NBSWG will shortly conduct a survey to seek further input into the policy framework and host a second face-to-face consultation workshop in Perth in mid August 2015.

It is anticipated that the policy framework will be drafted by late this year for final approval by the Australian Health Ministers Advisory Council in mid-2016.

At the FXAA Board meeting in May, it was agreed that we should continue to be involved in the NSB consultation process. It was also agreed that we should support a test for Fragile X to be included in the national NBS program.

If you have any comments or suggestions relating to the national NBS program please contact FXAA. For more detail see: https://consultation.health.wa.gov.au/office-of-population-health-genomics/newbornbloodpsot-screening-policy-framework

Relationship with Carer Services: University of Sydney study Are you a parent of a child (including adult children) affected by a genetic condition that requires highlevel care in order to meet their basic daily needs?

If so, our research team from the Faculty of Education and Social Work, University of Sydney, would love to hear from you!

We are interested in the relationships that parents have with the many services they are in contact with as a result of their caring role (for example health, education, disability, finance, employment).

Our study is open to parents located anywhere in Australia.

Interpreters can be arranged if needed.

Contact: Pam Joseph Page 11

0435 532 074 or pjos3628@uni.sydney.edu.au July 2015

Fragile X Association of Australia

From the Treasurer At the end of the financial year and the beginning of the next, it is very important for the members and associates of FXAA to be reminded of where we stand financially. This is because the Association is funded entirely through philanthropic funds from donors who are either members or who have been in some way introduced by members. Our recent approaches to governments for support have not been successful so we must continue to engage the FX community in maintaining this valuable Association.

Bruce Donald

I am very pleased to report that the most important part of our core funding is secure for the next 3 years with the most welcome confirmation of our major donor grant at the higher level of $100k pa.

This donor was introduced to FXAA some years ago by a Board member and the renewal of their commitment is a tribute to how FXAA has managed its activities over the past 3 years of their grant.

Two member families have also confirmed their generous support will remain at a similar level for the coming year, including the funding our initiative to increase awareness of Fragile X conditions with the medical community.

All this means that we can be reasonably confident of $220k for our core services into next year which run at $240k pa. A range of fundraising by members is likely to bridge the gap. This means again we can plan the services and initiatives for this coming year with some comfort.

As good as this news is, it reminds all those concerned to see FXAA thrive well into the future to be vigilant in seeking sources of both short and long term funding. In this regard I have for some years been promoting the FX Endowment Fund as essential in the longer term as a capital base to generate income to secure the future of our organisation. If that can be achieved it will divert the substantial of the time now taken up with fund raising and enable the office, the Executive and the members to focus on family support, service provision and awareness raising, which are our key tasks. I am delighted to announce that a very generous recent donation of $50,000 means that the Endowment Fund now stands at $230,000 but must over time reach of the order of $5m to generate the base funds for FXAA into the future. Our security for the next three years provides the best opportunity to work hard to build the Endowment Fund. It’s achievable with tax deductible donations and bequests. If just half the families in Australia estimated to have a family member affected by Fragile X made a commitment to a four year tax deductible donation program of $250 each year (that’s $170 after tax for most people, or less than $3.50 per week) we’d be getting close. So please consider committing to a tax deductible donation program and promoting this throughout your family and wider network. Just a few FX families have been very generous in setting up the Endowment Fund. We now need all in the FX community to work to build it.

FXAA Cooperation on Monash University Research Project Study on the general health and well-being in women who have a premutation CGG expansion on the fragile X gene (ie. carriers) of Fragile X This is underway at Monash University until 15 August 2015, and we have agreed to help the research team look for participants. It is an entirely voluntary online survey that will help to shed more light on the issues facing women who are carriers of FX. We urge you to consider participating. - Robyn Iredale, President Tatiana Palacios, an Honours student at Monash University, is seeking 100 women between the ages of 18 and 55 with a small to medium expansion of the FMR1 gene (between 55 and 200 CGG repeats) to complete an online questionnaire. It will take about 30 minutes to complete.

Purpose of the study The project will look at some common health issues that may be associated with being a carrier of fragile X. For example, we want to know if women who have problems like sleep apnoea, migraine and autoimmune disorders also have problems with depression and anxiety.

If you would like more information about this study, please contact Tatiana on 0432 919 363 or via email at tfpal1@student.monash.edu.

Your privacy and protection: This is an anonymous questionnaire and no identifying information will be collected.

To participate please access the following web address and complete the online questionnaire: http://tfpal1.wix.com/fragilex Page 12

July 2015

Tatiana Palacios Monash University

Fragile X Association of Australia

Tries to try and make a difference!

By Kitty Stokes, Launceston During the 2014-2015 touch football season the Hazards Touch Football club in Launceston, Tasmania, threw their support behind one of their long-serving players Claire Colgrave.

The club hoped to help out Claire and her family with the ongoing challenges of Fragile X. Claire and Brent have two children, both of whom have Fragile X syndrome: Harry, 11 and Thomas, 10.

The Hazards asked their club members to donate one dollar for every individual touchdown that they scored during weekly games. While this was only a small sacrifice individually, they hoped that as a group, teams would use this for inspiration and score lots of touchdowns and raise as much money as they could for the Colgrave family!!

The club was proud to present Claire a cheque for $450.50 (someone must have scored half a try!) at a special surprise lunch attended by a few of the members.

Clubman Dylan Glock said: “While it will only ease the financial challenge in a small way... our efforts will continue to raise awareness of this little known condition – Fragile X and also show that there is support from a lot of special people at our awesome little club :)” Claire was thrilled with the result!

The Hazards Touch Club would like to thank Bendigo Bank for the loan of their BIG cheque which made this a really special celebration.

Where was Tommy?

Kitty says, “Tommy was having too much fun running around to stop for a picture!“ (But here he is leading the way in the 5km Virtual Walk for Fragile X in Launceston in 2014!)

Claire & Harry having a snack

Such comfort!

Liza Roberts from Queensland has made some fabulous weighted sensory blankets for her family.

The photos speak for themselves!

Page 13

July 2015

Fragile X Association of Australia

Counselling

Janet Levy has written this heartfelt piece for our newsletter which describes her struggles with making and keeping friends and asks if others have also experienced difficulties in this area.

Her writing has reminded me of the conversations I have had with people about the loneliness that was troubling them. We know that the unpleasant feeling of loneliness can be experienced when we find ourselves in situations where we feel isolated or disconnected. This can happen even when we are surrounded by people when we don’t feel that we have the connection with those people that we want. Sometimes we can be entirely on our own and not feel lonely at all and this is often because we have had some choice in the matter.

Janie Roberts

Loneliness is a condition that seems to be more prevalent in the modern world where people have often moved away from their family base and small communities. We are influenced by the cultural emphasis on individualism where we seek independence and self-reliance and yet we are extremely reliant on one another for personal and economic needs.

As John Mc Leod (2009) describes, “To be a person in modern society is therefore to be caught in a field of great tension, simultaneously pulled in the direction of individual autonomy and aloneness, and in the direction of connectedness, relatedness and the communal”.

The effects of feeling ongoing loneliness can be damaging to self-esteem and self-worth which can in turn effect the motivation and confidence needed to reach out to others.

I would love to hear from anybody who would like to make comments or suggestions about Janet’s article.

If you also find yourself questioning the quality of your contact and connectedness with others then perhaps you would be interested in being part of a group discussion using Skye. This is something I would be very keen to facilitate. Let me know if you’d like to be part of a group discussion.

Janie Roberts Personal Story: Friendships My name is Janet Levy & I am 59 yrs old. I live in Canberra with my husband & daughter. I am both a carrier & affected by FX & so is my 29yr old daughter. The years since our daughter was born have been happy but also hard as we had no-one who understood FX to help us, so we have just used our best judgement. Our daughter is a lovely girl and is trying hard to find her way in the world despite many setbacks.

The reason for writing all this is to find out if other FX women my age & my daughter's age struggle to make & keep friends. Sometimes I feel we give out a "vibe" that puts people off. I have been told we are both nice but that’s usually as far as it goes. We have both tried many activities to meet people including volunteering & various courses but we don't seem to quite gel with people. We moved to Canberra from Brisbane about 18 months ago to help our daughter to get work (she has 3 days a week with the ACT govt which is good).

I also made contact with some FX people here but it has not progressed & I don't want to force it. The other thing is I am a fat person (my daughter is not) and wonder if that puts people off or just uncomfortable. The other is maybe I expect too much or try too hard that also does not help. My & my daughter's self confidence have suffered over the years so that probably added to the mix.

Anyway enough of all that. If anyone can offer some helpful thoughts I would be very appreciative. Please don't think we are sad people as that is not the case but friendship is a very difficult area for us.

Thank you Janet Page 14

July 2015

Fragile X Association of Australia

s

Janie Roberts is the Fragile X Association counsellor.

Counselling offers empathetic listening, a non-judgmental attitude, a safe place to vent, and an opportunity to consider new insights and perspectives. Janie has experience with counselling in many areas that can affect families living with Fragile X, including anxiety, depression, isolation, grief and loss, finding balance, feelings of guilt, maintaining hope, relinquishing care, domestic violence and trauma, and changes in relationships.

Janie encourages families, couples, siblings, and individuals to contact her for phone-based counselling support, or via skype, or face-to-face support (in the Sydney area).

The counselling provided is free and confidential. Janie is available 3 days each week 1300 394 636 (free call) or janie@fragilex.org.au Janie has a Master’s in Counselling and Psychotherapy. She is a clinical member of Counsellors and Psychotherapists Association of New South Wales Inc (CAPA) and Psychotherapy and Counselling Federation of Australia (PACFA).

In August Janie Roberts and Zoe Friend will be giving presentations to Special Education students at the University of Newcastle and the University of Wollongong.

Zoe, one of our members, is a visual arts teacher and is working towards a diploma of special education.

Janie & Zoe will present an overview of Fragile X syndrome, and how best to maximise learning in the classroom for students with Fragile X, and behavioural perspectives.

Zoe and Janie

Poetry contributed by Karin

Sadness is what I feel tonight The feeling just won’t go away I’m only trying to do what’s right To help you on your way.

My life is blessed in every way And I am thankful every day A son who has enriched my days And forced me to improve my ways.

My house that once was but a dream The foreign countries I have seen.

Although my health is now a mess I’m better off than most I guess

I understand that you are scared In truth, I’m scared too But what do I do to set you straight About the things we need to do My son if you could only see And have confidence in yourself The future but is yours to be If you ventured out with our help

I want to live a long time yet On caring for my son my mind is set So much to live for so much to gain From being a carer that I cannot explain I’m blessed to have had him And have to this day and knowing I wouldn’t have it any other way.

The comfort zone in which you stay Will one day falter too And when it does where will you go If I can’t see you through?

Page 15

July 2015

Fragile X Association of Australia

Manly local businesses supporting Fragile X

More than 350 paddlers braved a grey Sunday morning to paddle the 11km from just under the Harbour Bridge to Manly Beach - basically across the road from the Fragile X office! Thanks again to the paddlers who wore our orange ribbons to raise awareness of Fragile X. Special thanks to the paddlers who made donations or raised funds.

Thanks to Manly Kayak Centre and SEA Real Estate Agents for sponsoring our prizes.

We’re very grateful to OceanPaddler, based in North Manly, for continuing to partner with Fragile X as their charity for this event.

Rosie Donald and Penny Figgis, FXAA members, wth Luke Ratcliff who again raised the most funds

Many thanks to Manly Chamber of Commerce and The Golf Touring Company - literally our neighbours here in Manly - for their support in increasing awareness of Fragile X in the local community.

Through this we secured great coverage in The Manly Daily for Fragile X, we’ve made contacts in our local community, and we have raised some funds to support the work of our organisation.

Thanks to former FXAA Presidents John Kelleher and John O’Connor, who supported the event. And congrats to John O’Connor for winning a prize!

Page 16

Janie (FXAA), Chantelle (Manly Chamber) with Kathryn (Manly Golf Club)

Familiar faces John Kelleher and Christine Kelleher

July 2015

Fragile X Association of Australia

From the President of FXAA Dear Members & Friends, Marcia Braden’s Workshops In March we held two workshops in Melbourne and Sydney with Dr Marcia Braden, a clinical psychologist and educator from the US. A grant from the ICAP Charity Day 2014, made it possible for us to sponsor Marcia’s visit and these workshops. Along with Dr Jonathan Cohen and others, she provided very lively workshops on behaviour management and educational strategies.

Robyn Iredale We filmed a Q&A session with Marcia on these topics. The video is on our new youtube channel, and linked from our website. Marcia also provided several individual assessment clinics in Melbourne & Sydney and some members took advantage of this opportunity for personalised advice for their family members. I took my brother to meet her and this was very beneficial.

FX Updates with Dr Randi Hagerman and Dr Paul Hagerman As you know this month we have some short workshops coming up with Dr Randi Hagerman from the MIND Institute, in California. Those of you have met and heard Randi talk before know that she is not only uniquely experienced in Fragile X, but exceptionally empathetic and always particularly keen to speak with FX families. It’s not often that she can come to Australia so I urge you consider attending one of her presentations in Melbourne, Perth or Sydney. Randi’s husband Paul Hagerman, an expert on FXTAS, will take part in our workshops and will also be speaking to groups of neurology specialists, arranged by Katrina Weir, who works with us to increase the profile of Fragile X in the medical community.

We are really delighted to welcome Randi and Paul and thank them for being so generous with their time for our FX community here in Australia. Many thanks to Royal Bank of Canada and Neuren Pharmaceuticals, without whose generous grants it would be possible for us to sponsor Randi & Paul’s visit to Australia.

Call for new Board members for 2015+ The Association’s Annual General Meeting will be held on Saturday afternoon, 24th October 2015 at our office in Manly in Sydney. The FXAA Board operates with 8 Board member positions. Board members are all volunteers.

Some are from families affected by Fragile X, others are not. Two Board members will be retiring at this meeting, after a number of years on the Board. Further, after many years on the Board our Treasurer, Bruce Donald, will also retire within the next 12 months.

So we are now looking for a Treasurer to replace Bruce Donald, and two additional new Board members.

We very much welcome participation on the Board from people in any state/territory.

If you are interested to know more about joining our Board please don’t hesitate to contact me, or Wendy Bruce.

We’ll be delighted to hear from you.

On a personal note, some of you will remember Louise Gane, genetic counsellor, who has been to Australia several times in the past with the Hagermans to give presentations on Fragile X. Louise has left the MIND Institute recently but Tim, Marty and I recently caught up with her in New Orleans where she now lives.

She is as lovely and buoyant as ever and looked after us for 5 days in her ‘heart’ city.

Tim Turpin, Louise Gane, Marty Campbell

It was great to have Hazel Richardson, a former Board member come into the office with her mother from the UK, and Hazel’s daughter Kathleen.

Hazel was FXAA Secretary for a number of years and was instrumental in setting up the assessment clinics at Westmead Hospital.

Page 17

July 2015

Fragile X Association of Australia

Fragile X Association: in the office

Diary Dates

Janie

August

Drs Randi and Paul Hagerman in Australia

August 21st

FX Update

Melbourne

August 25th

FX Update

Perth

August 31st

FX Update Sydney

September

Member survey

October 24th

FXAA Annual General Meeting, Manly, NSW

Wendy

Liz

Katrina

If we can help with anything please get in touch 1300 394 636 or support@fragilex.org.au

We’re on youtube Videos we’ve made, or that we just like!

DVD - now on youtube!

Q&A with Dr Marcia Braden

Rachael Clements’ family story

Amanda Keller - for FX Day 2015

Sneak peak at our new brochure !

Let us know if you’d like copies for family, friends, your child’s school or workplace, your local therapy centre, or clinic. These are small 3-fold brochures. These are free.

Page 18

July 2015

Fragile X Association of Australia

Employment Inclusion: Fragile X Association submission to Review of Disability Employment In late 2014 Fragile X Association was fortunate to be one of 21 charities in the Asia Pacific region to win a grant from French bank BNP Paribas to undertake an initiative in social inclusion. Many thanks to our member Leigh Riddell, who introduced us to the opportunity.

Our initiative is in employment inclusion - looking at the challenges faces by people with Fragile X in securing work in the open employment market, since a number of our member families have had very unsatisfactory experiences in their adult children seeking work through employment agencies. The experience of many job seekers with Fragile X is that many employment agencies show little understanding of their abilities and potential.

Tracey Learmont, who has a background in journalism and in counselling, was engaged by the Association to take on this small project for us, reviewing special employment providers in Sydney as a basis for understanding the situation Australia-wide. One of the outcomes of this project is that we have a very good understanding of the employment process and the gaps and inadequacies for individuals with Fragile X. In July, as a result of this work, Fragile X Association was well-placed to make a submission to the Department of Social Services Review of Disability Employment Services, documenting the experience of some of our members and making recommendations.

A further outcome of the Employment Inclusion initiative is a video profiling the challenges some of our members are facing in seeking work. We thank Zoe Friend, Marty Campbell, Rosie Donald, Hugh Rodgers and Ross Mackenzie for their contribution to the video, together with Jean-Marcel Guerin, manager of Vintage Cellars, Seaforth, and Suresh Gupta, manager of Coffee Club, Mona Vale. Thanks also to film maker Thibault Upton, who has provided his time at a very discounted rate in support of Fragile X. Working with Fragile X will be available on our website and youtube channel shortly.

Tracey, Zoe and Thibault getting ready to film in our office

Ross with Suresh at Coffee Club Mona Vale

Rosie is a makeup artist

Marty skippering across to Scotland Island

Hugh at work Page 19

July 2015

Fragile X Association of Australia

Page 20

July 2015

Fragile X Association of Australia