Fragile X newsletter – latest issue!

fx info_July 2015

Lots to see and read in this edition of our newsletter!

  •  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!

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Family Story: Christian’s family

Luciana and Christian in tshirts_crop

Michelle Romanski’s son Christian was diagnosed with Fragile X syndrome aged 2 ½ .

At around 2 years of age, Christian was still not walking and was seeing a physiotherapist for low muscle tone. The physio suggested that Michelle take her son for an assessment as she felt “something was not quite right.”

Around the same time, Michelle’s brother had heard a radio interview about Fragile X syndrome that mentioned how other family members could also be affected. He was convinced that Christian’s problems and the problems he and Michelle’s father was experiencing may both have been caused by Fragile X.

Christian’s diagnosis of Fragile X syndrome was confirmed by DNA testing and soon after, another appointment was scheduled with Michelle to discuss who else in the family should be tested. DNA testing of her father, who already had symptoms of FXTAS, confirmed he was a carrier of Fragile X, as is Michelle.   Her brother was not tested as fathers can only pass the affected Fragile X gene onto their daughters – never to their sons.

FXS_Dimech Romanski family_crop

Michelle says, “My father was not diagnosed until he was 68 years old. It was only after Christian’s diagnosis that he was diagnosed as a carrier but once we knew, it all made sense.   If it was not for Christian, my Dad would still be undiagnosed and untreated.”

Michelle’s father has had epilepsy for most of his life but now has a bad temper and major problems with his balance. Since his diagnosis about four years ago, his balance has deteriorated and he will soon require a wheelchair. Michelle’s parents have recently sold their house and moving to a unit closer to Michelle so that she can help her mother care for her Dad.

Michelle has a few pieces of wise advice for families affected by Fragile X.

    • try and find a specialist that really understands Fragile X syndrome
    • make sure your child is getting early intervention from therapists that understand the child well and who you feel are right for him/her
    • find a local family doctor that you, your child and other family members trust
    • join the Fragile X Association of Australia additional information and support

And above all, Michelle says, “Don’t let anyone tell you how smart your child won’t be.  Just give them opportunities to shine and they do the rest.

Our little man finished his first year of kindergarten at a special needs school and the progress he has made has been beyond belief. We are so proud of him.

Support, therapy and most of all love, is the best possible start we can ever give these beautiful little guys.”

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Family Story: Miriam

Miriam_beach_crop

After nine attempts at IVF, Miriam was born; the first grandchild on both sides of Bronwyn and Sean’s families. She was slow to suck and an unsettled baby. A health nurse and lactation consultant both diagnosed Miriam with reflux but in retrospect, Bronwyn thought her feeding difficulties may have been early signs of low muscle tone. The problems persisted and Bronwyn finally saw a doctor about the ‘reflux’ when Miriam was seven months old.

Miriam was also slow to walk. She crawled at 12 months and took her first independent steps at 19 months.   Alone these slightly delayed milestones didn’t cause great concern but when added to some of the other signs Bronwyn and her teachers noticed, alarm bells started to ring. Toilet training was challenging, she had a fascination with mixing different coloured paints and her speech development was slow. Appointments with a range of professionals – doctors, physios, speech therapists and paediatricians – did little to shed light on the possible problems and Bronwyn felt her concerns were being consistently dismissed.

Bronwyn’s brother has cystic fibrosis (CF), a life-threatening genetic disorder that affects the respiratory system (lungs), the digestive system (pancreas and sometimes liver) and the reproductive system. When she was four years old, Miriam was hospitalised with acute pancreatitis and doctors queried whether there was a family history of CF. After Bronwyn explained that her brother had CF, Miriam had genetic testing which showed that she was a carrier of a rare type of CF that causes higher levels of pancreatitis.

Managing the pancreatitis meant visits to a wide range of specialist doctors and Bronwyn continued to raise her concerns about Miriam’s developmental milestones.

Eventually one specialist suggested testing for autism. Reluctantly, Miriam’s paediatrician referred her for genetic testing which included testing for Fragile X syndrome. A positive diagnosis followed.

When Bronwyn was told of Miriam’s diagnosis, she said she ‘froze’ and following some internet research, was confused. She said she had so many mixed emotions. Following an appointment with a genetic counsellor, an urgent appointment was made with a local paediatrician who suggested Miriam would need to attend a special school but other than that, she would be “just fine.”

After that appointment, Bronwyn said, “I felt my daughter’s future was being predicted in a very negative way. I decided to prove that wrong.”

Bronwyn worked with a range of therapists and teachers to help Miriam achieve her full potential. Miriam is now at a mainstream school, is in the middle cohort of her class and by all accounts, is thriving. She is also very popular and is greeted daily at school by staff and students from every year group.

Although some days continue to be a struggle and progress can seem slow, Bronwyn says that most days are fine and that she’s learnt to celebrate achievements that other parents probably ignore such as doing up buttons….independently.

“In the future, I can see Miriam working in childcare or with animals. She has a range of skills, is fascinated by colours and is very artistic,” says Bronwyn proudly.

Fragile X (or Fragile X-associated disorders) can affect multiple people in the family in multiple different ways and when a child is diagnosed with Fragile X syndrome, there are ramifications for the immediate and extended family members.

Miriam’s diagnosis provided Bronwyn with a possible explanation for her father’s unsteady gait. He has subsequently been diagnosed with Fragile X-associated Tremor Ataxia syndrome, FXTAS. This has been a difficult time for him and the rest of the family but since the diagnosis, he is getting appropriate support so Bronwyn hopes that his quality of life will start to improve.

Fragile X has meant that I’ve met some great people that I wouldn’t have otherwise met. It’s also meant that I’ve learnt to appreciate more moments. Some days I worry but….mostly it’s ok,” she says.

 

 

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Fragile X Updates | Drs Randi & Paul Hagerman in Australia | Book Now!

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TO REGISTER:
Melbourne 
  

Friday 21 August12:00 – 3:30pm.  Murdoch Childrens Research Institute, Parkville.
Cost:  $25 for Fragile X Association members, $50 for non-members   (inc GST)
Bookings:  Online at http://www.trybooking.com/IKMM OR call  Fragile X Association  on 1300 394 633

Perth
Tuesday 25 August, 5:30-8:30pm.  The Boulevard Centre, Floreat
Cost:  no charge, due to a grant from Community Living & Participation Grants
Bookings:  Online at FRAGILEX   OR call Developmental Disability WA  08 9420 7203 OR call Fragile X Association 1300 394 636

Sydney
Monday 31 August, 9:30am-2:00pm.   Y Hotel Hyde Park, Sydney CBD
Cost:  $25 for Fragile X Association members, $50 for non-members
Bookings:  Online at http://trybooking.com/IKMX   or call Fragile X Association on   1300 394 636

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The Fragile X Association of Australia is delighted that Drs Randi and Paul Hagerman, world leaders in Fragile X syndrome and Fragile X-related conditions, are visiting Melbourne, Sydney and Perth in August 2015.

Randi Hagerman is a developmental and behavioural paediatrician who has worked with families of children with Fragile X syndrome for more than 30 years.  She co-founded the National Fragile X Foundation in the US and has established Fragile X clinical and research programs around the world.  Randi has published widely and received numerous awards for her work.

Paul Hagerman is a geneticist with a keen interest in neurodegenerative disorders.  He is credited with discovering Fragile X-associated tremor ataxia syndrome, a condition that can affect older carriers of Fragile X.  Paul is currently on the scientific advisory board of the National Fragile X Foundation.  Both Randi and Paul are based at the University of California, Davis, School of Medicine.

At information sessions in Melbourne, Perth & Sydney Randi and Paul Hagerman will give presentations, and provide an opportunity for discussion & questions:

Ø     latest information on treatments and medications for Fragile X syndrome
Ø     wellness and health concerns for people who carry the changed Fragile X gene
Ø     latest information on Fragile X-related tremor syndrome, FXTAS

See the attached flyers with full details.

FX Update Flyer_Melb and Sydney_ Aug 2015
FX Update Flyer_Perth_25 Aug 2015

 ANY QUERIES:  call Fragile X Association on 1300 394 636 (free call)

 

 

 

 

 

 

 

 

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Family story: Ethan and Logan

 

Ethan and Logan

Ethan and Logan

By Maria Goss

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. He knows what it means to work hard and love deeply and his eyes sparkle over the simple joys of life.

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 in Perth. 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.

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 18months. 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. 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. 

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.

Goss family: Maria, Logan, Ethan and Luke

Goss family: Maria, Logan, Ethan and Luke

 

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Research project: common health issues for female carriers of Fragile X

Invitation from Fragile X Association to take part in a research project.

A research project into some common health issues associated with being a female carrier of Fragile X is underway now at Monash University in Melbourne, and the project team is seeking participants to undertake a 30-minute online survey.
The project is being run by Tatiana Palacios and Dr Claudine Kraan, under the supervision of Professor Kim Cornish, a former FXAA Board member. The results of the study are intended to help women and their families, as well as to inform clinical professionals on providing more personalised treatment options for women who carry the Fragile X gene.
Tatiana, Claudine and Kim have developed an online survey, which is open until August 2015.
We encourage members of the Association to consider participating in the study as it will help to shine more light on issues facing many female carriers of Fragile X.

If you have any questions about the purpose of the study, or the results, please don’t hesitate to contact the research team.

“We are currently seeking women between 18 and 55 years old with a small to medium expansion of the FMR1 gene (between 55 and 200 CGG repeats) to participate in a research study. Women with this gene alteration are sometimes called ‘carriers’ or ‘premutation carriers’.
This online questionnaire research project will look at some common health issues that can be strongly associated with being a carrier of fragile X.
This is an anonymous questionnaire and no identifying information will be collected. It can be completed in about 30 minutes.
To participate in the study, please complete the questionnaire at the following web address.

http://tfpal1.wix.com/fragilex

By participating in the study you can enter a competition to win a $50 Coles Myer gift voucher (a total of 2 available to be won).
If you would like more information about this study, please contact Tatiana Palacios on 0432 919 363 or via email at tfpal1@student.monash.edu

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2009 FX family survey Aust/NZ reports

Reports from the 2009 Family Survey on Fragile X in Australia and New Zealand.

The Fragile X Association of Australia and NZ Fragile X Trust (now Fragile X New Zealand) conducted the first national survey of Fragile X families in Australia and New Zealand in 2009.  It was carried out in collaboration with Dr Don Bailey and Dr Melissa Raspa from the United States and replicated their US survey of 2006.

Survey recruitment in Australia and New Zealand posed a major challenge as there were no national databases of families affected by FXS and confidentiality guidelines precluded any individual or group from sharing names and contact information with the project team without parent permission. Therefore, various strategies were used to inform people about the survey and encourage them to enrol and participate.

The questionnaire was in two parts. The first covered ‘family items’ concerning the support, education and social experiences in caring for a FX member of the family. The second part dealt with ‘child items’ covering learning experiences (social and educational) of the FX child. For adults it covered topics about employment, training, living and caring arrangements. There was also an opinions section in the questionnaire.

A total of 113 households representing 289 children responded to the survey. Sixteen households were from New Zealand and 97 from Australia. Of the Australian respondents, 43 were from NSW, 28 from Victoria and 25 from other states/territories. Some of the major findings on education, employment, living arrangements, social and financial impacts on households and respondents were reported in earlier FXAA Newsletters.

Three separate reports are attached below as one document.
(1) Major Findings from a 2009 Parent/Carers’ Survey  provides a summary of  major findings from the survey. This report draws particular attention to what families experienced as a general lack of awareness among professionals about Fragile X, and the challenges respondents faced with issues such as medical diagnosis, education and employment.
(2)  Health Impact and Other Consequences focuses specifically on health impact and consequences of FX-associated Disorders. Findings are reported here on the age of diagnosis and co-occurring conditions such as FXTAS and FKPOI and attitudes to screening, as well as raising implications for public policy.
(3)  Understanding the Nature and Consequences presents  a shorter, summarised version, of the material covered in Health Impact and Other Consequences.

FX Survey Australia and New Zealand 2009_Reports

added to website:  19 June 2015

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Membership – renew in June

If your membership to Fragile X Association expires on 30 June 2015, we invite you to renew your membership.

Member benefits include: 
* discounted or free attendance at Fragile X workshops,
* access to our free counselling service,
* access to clinic assessment places in Melbourne and Sydney,
* telephone inquiry service,
* and our regular newsletter.
We can also:
* connect families to other Fragile X families in their area
* provide details of health and medical practitioners with experience in Fragile X.

To renew your membership:
* Print and complete a Membership form (attached), and post to:  PO Box 109, Manly NSW 1655,  OR
* Call 1300 394 636 (free call) and we’ll take your details over the phone.

FXAA Membership_to 30 June 2016

FXAA Membership_to 30 June 2016_professionals

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Dr Marcia Braden’s presentation from FX workshop

It was a great pleasure for Fragile X Association of Australia and Fragile X Alliance Clinic to host Dr Marcia Braden at Fragile X workshops in Melbourne on 27 March and in Sydney on 30 March 2015.

Dr Braden’s sessions focussed on educational perspectives and behaviours.

The video footage of the entire Melbourne workshop will be made available via this website in the coming weeks.  The footage will include Dr Jonathan Cohen, Fragile X Alliance, Ms Bev Kadish, Occupational Therapist, and Dr Marcia Braden.

In the meantime, the slides from Dr Braden’s presentation in Sydney can be downloaded from here, as a pdf file:  Marcia Braden_FX Workshop Sydney 30 March 2015

Please note that, for confidentiality reasons, the slides do not include the photos and video links provided in Dr Braden’s live presentation.

More about Dr Braden:   www.marciabraden.com

 

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Bridge to Beach paddle event – supporting Fragile X!

 

B2B-2015-Banner

Iconic Sydney Ocean Paddling Race Takes Fragile X as Charity Partner!

The Manly Wharf Bridge to Beach is one of Australia’s largest open water paddling events and is regarded as one of the most spectacular in the world!

Participants marshal at Blues Point Reserve  for a spectacular sunrise over Sydney Harbour before lining up directly underneath the Sydney Harbour Bridge at the start line of the race.

They then paddle past the Sydney Opera House and hug the northern shores of Sydney Harbour, across both South and North Heads -   on their way to the finish line at Manly Wharf - just across the road from the Fragile X office.

 Fragile X Association has been based in the Manly area for around 25 years.

We’re proud to be Oceanpaddler’s charity partner for the iconic Bridge to Beach race. We’re proud to be sponsored by the paddling community, and we’d also like to thank the local businesses who have donated prizes for our fundraisers!

OceanPaddler_logo

B2B FX sponsors_SEA Manly Kayak Centre

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