Fragile X Australia newsletter

FX INFO

JUNE 2016 1300 394 636 (free call)

July is FOR Fragile X Awareness !

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

Research Matters: Recognising the work of Prof Grant Sutherland and Prof Gillian Turner Royal Hospital for Women hosts Prof Ted Brown Fragile X newborn screening study a focus of Murdoch Childrens Research Institute celebrations Research study on FXTAS is seeking new participants Free FX Study Genome sequencing survey by Genetic Alliance Australia Fragile X Association Board - new directors needed in October And more....

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June 2016

Fragile X Association of Australia

Dear Members & Friends, The year is well underway and it is great to see lots of support and enthusiasm in the FX community. Our members are raising awareness of Fragile X and raising funds in all sorts of ways and we really appreciate these efforts.

A highlight in many ways was Mike Tozer running in the Sydney Half Marathon in May - a valiant effort to take out a new Guinness world record for someone ‘running in a suit’! A 21.1km run and Mike’s time was 78 minutes. What a fantastic result, both as a personal achievement and in raising over $4,000!

If you’re keen to help raise funds for Fragile X Association or organise an event to increase awareness of Fragile X, please get in touch with Wendy to discuss your ideas and how we can help.

It is with great pleasure that I direct you to the article prepared by Katrina to mark the 25 th anniversary of the identification of the Fragile X gene; also marking 25 years of groundbreaking research on FX in Australia.

Australian scientists such as Prof Grant Sutherland and Prof Gillian Turner have often led the way.

We are proud that this tradition continues. The many very active researchers in Australia are working on a wide range of aspects: newborn screening for FXS (Dr David Godler and others), various other forms of screening (researchers at the Victorian Clinical Genetics Service), FXTAS (Dr Danuta Loesch, Prof Julian Trollor and Dr Rachael Birch) and other issues of FX carriers (Dr Claudine Kraan, Professor Sylvia Metcalfe and others).

At the same time, the GOLD Service in NSW and other state groups are very active in researching individuals with FXDs and their families. Dr Lesley Powell has been at the forefront on education for children with Fragile X syndrome, and we thank her for contributing to this newsletter, and for allowing us to reproduce her material.

I’m pleased to announce that Graham Hook, from Brisbane, has re-joined the Board. Some of you will know Graham, as he is a former President of the Association. We currently have directors from Victoria, Queensland and New South Wales, and would welcome directors from other states. Our Treasurer Bruce Donald and I will be retiring in October, so if you are interested in joining the Board please let us know. The FXAA can only continue to function well if there is a replenishment of new people and new skills on the Board.

Amanda Rummery-Hoy joined us recently as our Family Support counsellor, which is such an important part of the Association’s role. Amanda has come to us with years of experience in social work and counselling and with many new ideas about how we might help our community more. If you have not contacted her please don’t hesitate to do so. She is there for everyone— people with Fragile X and related issues, carers, parents, family members.

In particular, you may need help as you prepare for the NDIS and Amanda is willing to provide whatever assistance she can. I am involved in two NDIS plans: one for my son, Marty, and one for my brother, Stuart. The thing is to be prepared and know what you want to have in the plan.

We wish everyone attending the International Fragile X Conference in Texas all the best. It looks to be a fabulous program, and we look forward to hearing all about it.

Many thanks to the families who have shared their photos for our wonderful collection of posters in 2016.

They’re available now, in time for July. Posters are a important resource for raising awareness of Fragile X, and I’d like to thank the families from Victoria, SA, WA, Tasmania, NSW and Queensland who shared their photos.

I look forward to your continued and active involvement in the Association throughout July, FX Awareness month, and the rest of the year. If we all work together it makes the journey easier.

Warm regards, Robyn

July 20-24: 15th International Fragile X Conference in Texas The NFXF biennial international conference presents a unique opportunity where researchers and parents can interact.

The majority of the sessions are “family friendly” and cover Fragile X syndrome, FXPOI and FXTAS. Discover the latest research; Learn new techniques, behavioural interventions and coping strategies, connect with researchers, clinicians, educators, psychologists and parents. www.fragilex.org Page 2

June 2016

Fragile X Association of Australia

Friday July 22nd is Fragile X Awareness Day! July is a great time to energise your school, your workplace and your whole community about Fragile X!

What’s on for July? #fragilex# orangeisintheair #fxawareness

Get in touch if we can send you anything to help you spread the word: ribbons, posters, balloons, bumper stickers, brochures. support@fragilex.org.au or freecall 1300 394 636

Twibbons for facebook & twitter profiles

Fundraising raffle

tion llec y o c cop ter pos d soft w n e N int a Pr

Real ribbons!

Turn Your School or Kindy Orange for a Day! We can send you an FX School Pack: Posters & brochures for the school Balloons Ribbons Article for the school newsletter Certificate of thanks for the school

Our free bumper stickers are back!

Contact us to order a schools pack / bumper stickers / ribbons / posters: support@fragilex.org.au or 1300 394 636 Page 3

June 2016

FX Day Flashback In 2015 Kurt’s class made X chromosomes from pipecleaners!

Fragile X Association of Australia

Fundraising for FX

In May Tracey Speed was busy raising awareness of FX at the Public Transport Authority in WA. Tracey was the PTA WA charity champion for that month.

Tracey's son Nathan is 30. She says he's cheeky and funny, and works 2 days a week. He loves 10-pin bowling, fishing on the family boat - and the Carlton Football Club!

She urged the PTA staff to be considerate in the way they react to people who were a bit different, both in their work and private lives: "don't judge them, accept them for who they are and what they are".

Tracey and the PTA office team hosted morning teas and a Friday night drinks for Fragile X Association, raising around $500!

Many thanks to Bianca Ward for donating proceeds from the sale of special orange-coloured Amber Soap.

Bianca has regular stalls at large markets in Gippsland, and sells online: www.nicholsonriversoaps.com

Stair climb challenge 6,000 steps!

Sheena Malcolm from Perth will be taking on the City to Surf on Sunday 28 August, raising funds for Fragile X Association.

Way to go, Sheena!

Andrew helping his Dad train for the Stadium Stomp in July

Riding 100 miles for Fragile X

Prudential Ride London is an annual two-day festival or cycling.

Australian Leigh Riddell is taking on the 100 mile London-Surry challenge!

Leigh and his family are currently based in the UK. He’s cycling to raise funds for The Fragile X Society, UK as well as Fragile X in Australia.

But he says: “Most of all though, I am riding for James, whose challenges ahead are enormous, but who inspires me everyday.”

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June 2016

Fragile X Association of Australia

On May 15, Mike Tozer took on the Sydney Morning Herald Half Marathon.

In a suit!

Here’s what Mike said before the race: One man. One suit. 21.1 kilometres. Sub 1 hour 18 goal. I'll be lining up at the start line of the Sydney Morning Herald half marathon aiming to take on a Guinness World Record: the fastest half marathon in a suit.

I'm doing it to raise awareness for fragile X syndrome. My son has this condition and I daily get to watch the joys and the challenges that come from fragile X. This condition means having just one missing protein, which is vital for brain development. This one protein holds him and others back in a way that doesn't seem fair. In a similar but much lesser degree, my suit will hold me back and be a constant reminder throughout the race.

Intensive training! Sydney & Hong Kong

Another record breaker spoke of the cognitive dissonance of this record; of wanting to take off the suit jacket but then reminding himself of needing to keep it on to meet the record rules. This idea of cognitive dissonance made me think of the parallels of what I've read of the neurology of fragile X syndrome. Coupled with the fact that the record is just within my reach (2 minutes off my personal best) inspired me to give it a try.

Am excited that lots of people are getting behind this attempt, including friends, sponsors and media in Sydney and in Hong Kong. The record was broken in March in New York at 1 hr 18'40", so I'm going to need this whole team behind me to hit the goal.

After the race!

Mike’s time:

1hr18:40

He said: “That race was a killer! Heat exhaustion, blisters, but so many people yelling Go Suit Guy!!! Cheered me on.

Nice to see coverage of the race in the Sydney Morning Herald today, including this picture of me. I was in a pretty bad way at the finish line!

As I reflect back on the amazing day, I'm grateful for all who cheered me on as well as Bonham Strand for a fantastic suit, and Brooks Running and HillySocks for their awesome lightweight gear.

I can still say that on the day I beat the official world record of 1hr24.

Action photo in the Sydney Morning Herald

The main focus of the run was awareness raising and fundraising for the Fragile X Association of Australia.

So I'm pleased we made some noise and raised $4163.”

So, in the end, Mike’s time was the merest whisker out from a record set by someone in the UK - running in a 3-piece suit! Will Mike have another crack at a Guinness World Record, fastest half in a suit? Watch this space.....

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June 2016

Fragile X Association of Australia

FMR1 gene now 25 years old....or new?

By Katrina Weir This year is the 25th anniversary of the discovery of the FMR1 gene. In the early days, it was Australian research that was leading the way in building understanding of the impact of changes to the FMR1 gene and Fragile X syndrome around the world.

From the late 1970s through until the early 1990s, Professor Gillian Turner AO, now living in Newcastle, NSW, and Professor Grant Sutherland AC from Adelaide, led the world in both clinical and genetic aspects of X-linked intellectual disability (ID) and particularly Fragile X syndrome. They met and got to know each other at scientific and clinical meetings, and knew of each other’s work through publications. Their first joint publication was in 1985. But the story of how they came together is best told by first understanding their individual journeys into the world of Fragile X. Professor Gillian Turner graduated in medicine from St Andrews University in Scotland.

Having travelled to Canada and specialised in paediatrics, she arrived in Australia in 1961 with Prof Gillian Turner AO no research experience and began studying chromosomes. She had trouble getting the chromosome cultures to grow but had no trouble getting on with her boss, Dr Brian Turner, who eventually became her husband, mentor and long-term supporter of her work on X-linked inheritance, specifically ID. While living in Baltimore for Brian’s sabbatical, Gillian worked at one of the John F Kennedy Centres for ID and developed a strong interest in the assessment of children with ID and helping the parents understand and manage their children. She brought these skills home to Australia and worked in this field for the remainder of her career, initially working at the first ID assessment centre in NSW called Grosvenor Clinic. It was here that Gillian met four families with an X-linked family history which triggered a life-time clinical and research interest in X-linked ID. While working at the Children’s Medical Research Foundation in the 1970s, she undertook a survey of all NSW special classes and schools in an attempt to determine the frequency of X-linked ID. She discovered an excess of affected males, and noticed that some had enlarged testes. She concluded that 20% of all males with an IQ between 30-55 were caused by X-linked ID. Excited by these findings, Gillian wrote them up for the prestigious The New England Journal of Medicine (NEJM) but her publication was rejected. However studies reporting similar findings were starting to emerge from the USA, UK and Canada.

In 1969, an American geneticist discovered the link between the fragile site on the X chromosome and X-linked ID and knowing of Professor Turner’s work, encouraged her to look for this fragile site in the families she had identified with X-linked ID. At that time, she failed to identify this marker but unbeknownst at the time, it was the unsatisfactory culture media used to grow the chromosome cultures that was the issue, not that the fragile site didn’t exist.

It was the presence of enlarged testes in most of the affected men she saw that first sparked Professor Turner’s interest in Fragile X syndrome.

And this is where Professor Sutherland enters the story, and the Turner-Sutherland collaboration begins.

Victorian-born Professor Grant Sutherland began work as a cytogeneticist at the Mental Health Authority Chromosome Laboratory in Melbourne in 1966. He was interested in the population cytogenetics of institutionalised populations, including prisoners. Having completed a PhD in Edinburgh in 1974 on prenatal diagnosis of genetic disease, he started work as Head of Cytogenetics at the then-named Adelaide Children’s Hospital in 1975 where he worked until 2002. He initially studied fragile sites on a number of different chromosomes but when trying to replicate earlier studies of the Adelaide lab, he had trouble identifying the fragile sites. After a series of experiments, he discovered that to successfully observe fragile sites, the culture medium needed to be low in folic acid.

In 1977 Professor Sutherland published this finding in Science and from then on, laboratories all over the world returned to using low folate media.

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June 2016

Prof John Mulley (L), who did the genetic linkage studies on Fragile X and other forms of X-Linked ID in Prof Sutherland’s Lab, and Prof Sutherland (R) discuss some Fragile X genetic results in 2003.

Fragile X Association of Australia

This discovery sparked a race between Professor Turner and Professor Sutherland’s labs to confirm if males with ID and enlarged testes, or macro-orchidism, also had the Fragile X marker and as a result, Professor Turner quickly contacted 16 families for retesting. Six of these were found to have both Fragile X and macro-orchidism and so a letter reporting on the findings was again sent to the NEJM. Although published in December 1978, months later, the journal published another letter from an American research group who were unable to replicate these results and concluded Professor Turner was wrong. Meanwhile Professor Sutherland had submitted a publication to Human Genetics in November 1978 (actually published in April 1979) confirming Professor Turner’s finding that males with ID and enlarged testes, or macro-orchidism, also had the Fragile X. The tables were turned and it was the Americans who were proven wrong!

Due to Professor Sutherland’s work, there was a new reliable cytogenetic test to enable the more accurate diagnosis of Fragile X syndrome. This resulted in families from the original school survey of 1970 being recalled for re-testing, testing of girls with mild ID and the discovery that they can also have a fragile site and eventually, the screening of 15,000 children and adults with ID throughout NSW. Professor Turner’s work was strongly supported by the NSW Health Department at that time with funding levels that researchers of today can only dream about! Professor Sutherland’s lab was also developing linkage studies for families with X-linkage but no Fragile X. Together they worked with one of Professor Turner’s large families in NSW which started a long period of collaboration, with Professor Turner’s group providing the families and Professor Sutherland’s group completing the linkage studies.

Although first identified under a microscope in 1969, the gene mutation was not identified until 1991 because the mechanism for disrupting the function of the gene was unknown. Professor Sutherland’s lab in Adelaide was one of the first to isolate the DNA and identify the CCG mechanism and how it works to silence the gene. This discovery allowed further more reliable testing to identify Fragile X carrier status on both men and women of affected families, much of which was completed in Professor Sutherland’s lab.

Early participants in the discovery of the Fragile X DNA repeats and FMR1 gene.

L-R: Dr Sui Yu, who was Prof Sutherland’s PhD student and was critical to his work on the Fragile X DNA, Prof Sutherland, Prof Jean-Louis Mandel from Strasbourg and Prof David Nelson from Houston.

(Barossa Valley, South Australia, 2013)

Fast forward......

In April 2016, a conference dedicated to celebrating the 25th important anniversary of the Fragile X gene was held in Spain. It was attended by geneticists, neurologists, psychologists, speech therapists, special educators, teachers and other people interested in Fragile X syndrome. Presumably this was a vastly different conference in both content and size from the early conferences attended by Professors Turner and Sutherland in the 1980s but it is also a symbol of just how far our understanding about Fragile X syndrome and the FMR1 gene has come.

According to Professor Turner, the last 25 years have seen the availability of diagnostic services, an understanding of its mode of inheritance and a medical profession that considers Fragile X syndrome as a possible diagnosis albeit not always in girls. She hopes that the next 25 years will see routine preconception testing for Fragile X to identify carrier women, which is already available in Finland and Israel. We wonder what else the next 25 years will bring?

End note from Katrina: We contacted Prof Randi Hagerman and asked her to share her thoughts on the 25th anniversary.

Randi assures us that newer and better treatments that may reverse the phenotypic features of Fragile X syndrome will come and sooner than 25 years. She first became interested in Fragile X syndrome after reading Gillian’s paper about Fragile X syndrome in the Journal of Pediatrics in 1980 and has been involved in research and clinical work ever since. Gillian’s legacy goes on to influence the world.

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June 2016

Fragile X Association of Australia

FXTAS research study in Melbourne Important research findings in FXTAS New older premutation carriers of FX invited to participate in a study

By Dr Danuta Loesch, La Trobe University, Melbourne Background Since the population frequency of the Fragile X premutation (PM) is relatively high, ranging from 1 in 250 to 1 in 468 males, and from 1 in 113 to 1 in 209 in females, it puts millions of people at risk for the clinical symptoms that have been linked to this genetic anomaly. The most severe disorder associated with the premutation allele is Fragile X Associated Tremor-Ataxia syndrome (FXTAS), which is still under-diagnosed by medical professionals, and can sometimes be disregarded by a proportion of Fragile X families, where the main focus is usually on the youngest generation affected by the Fragile X syndrome. This is understandable but not advisable considering that after the age of 60, approximately 40% of male and 16% of female carriers develop FXTAS, a progressive debilitating neurodegenerative disorder presenting with tremor, imbalance, cognitive decline, or parkinsonism, underscored by typical changes in brain tissue seen on MRI scanning.

Research objectives .The pathological mechanisms leading to FXTAS still remain unclear and researchers are yet to understand why only half of Fragile X premutation carriers develop FXTAS as they get older. As a result, further research into this disorder is imperative. It is also important that studies identify the changes that may occur before the onset of clinical symptoms of FXTAS, thus creating an opportunity to delay or prevent the appearance of this severe condition. There is also a need to ascertain if the risk for FXTAS is linked to other medical problems that are more common in younger carriers than controls, such as early menopause in females, immune-mediated disorders, hypertension, sleep apnoea, muscle pains, or migraines.

Medical explanation and findings so far The key to address these issues relies on valid and convenient markers of disease risk and progression. Our latest study conducted at La Trobe University (soon to appear in Neurodegenerative Diseases journal) discovered a group of biomarkers in cells of the most accessible human tissue - blood, which may be predictive of eventual occurrence of FXTAS. These biomarkers may also help us to understand processes leading to this severe condition associated with PM alleles. Importantly, apart from early detection, these identified biomarkers allow for further exploration of specific targeted treatment for this disorder. Our results, based on cultured white blood cells (lymphoblasts), showed that the rate of oxygen consumption and the relevant metabolic activities in these cells were dramatically elevated in PM carriers affected with FXTAS compared with controls, with no damage to the cells’ organelles (which are the sites that produce energy for the body) being recorded. Importantly we also found that these changes were significantly associated with the extent of brain damage assessed by the MRI scanning, which implicates their role as suitable disease biomarkers. We noted that similar elevations were also present in some carriers who did not show clinical symptoms of FXTAS, suggesting that they may represent the early stages of disease, or they are warning signs of potential risk of the disease. We also considered a possibility that blood cells may be activated in response to the existing or impending brain changes, which would have serious implications for future treatments strategies.

Interested in helping further this work?

Although our study has been the world first, it only involved 16 older male PM carriers and 7 healthy controls.

Therefore, it cannot continue without the involvement of new participants- affected or unaffected PM carriers, so that our important results can be validated on much larger independent samples.

Participation in this project, which is supported by the NIH collaborative grant with Profs Paul and Randi Hagerman from UC Davis in the US, involves brief neurological and neuropsychological testing, a blood sample draw to test for the relevant biomarkers, and MRI scanning (except in participants with contraindications or anxiety).

Dr Danuta Loesch

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If you are interested in participating in the above study, or would like more information, please contact the project Chief Investigator- Dr Danuta Loesch by email d.loesch@latrobe.edu.au or on 03 94584014, or the project neuropsychologist- Mrs Eleanor Hammersley e.hammersley@latrobe.edu.edu or on 0418147848.

June 2016

Fragile X Association of Australia

Carriers of Fragile X Fragile X Carrier Family FXTAS Clinic: at St Vincent’s Hospital in Sydney Made possible by the generous support of the Cunningham family, this monthly clinic is being run by neurologists Associate Professor Stephen Tisch and Dr Sam Bolitho. It is a dedicated service for carriers of Fragile X and their families.

The clinic will take place on the last Monday of each month (with alternative dates when the clinic falls on a public holiday).

It’s 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 clinic can expect a minimum one hour consultation with Dr Bolitho with input from A/Professor Tisch, and followup appointments over time.

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.

Dr Randi Hagerman discussing the clinic with Dr Sam Bolitho (St. Vincent’s Hospital, Sydney) & Robert Miller (International Fragile X Alliance) on 22 June 2016

Clinic dates for 2016: 25 July, 29 Aug, 26 Sept, 31 Oct, 28 Nov

‘The Carriers’ The X-Factor in Infertility and Neurological Health

Available free online - in July only

In our last newsletter we profiled an excellent article in the Scientific American MIND journal about carriers of Fragile X. The article discusses the fact that while Fragile X syndrome is quite rare, the Fragile X premutation “is surprisingly common - with a prevalence of around 1 in 150 women, and one in 450 men.”

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

The article includes a case study of one family’s story, with several generations of that family impacted by Fragile X: Fragile X syndrome, FXPOI and FXTAS. The article refers to the work of Dr Randi Hagerman, Ms Louise Gane, Dr Danuta Loesch from Australia, and others researching in the field.

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

You’ll find a link to the full article on www.fragilex.org.au, and we’ll share it via facebook and twitter.

Fragile X Association wishes to thank the editorial board of Scientific American Mind for agreeing to make this article available to the Fragile X community worldwide at no charge.

Their support in promoting the sharing of knowledge about Fragile X is very much appreciated.

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June 2016

Fragile X Association of Australia

Ricky Crowe has designed and hand crafted two fabulous pieces of children‘s play equipment for us to raffle in July!

Ricky is a member of Fragile X Association and is based in Sydney. He spent many hours on this project! As you can see, these toys are beautifully made, and are crafted from pine, silky oak and plywood. They’re painted in long-lasting oilbased paint. The digger and seesaw were produced in Ricky’s home workshop, and then presented to us in the FX office.

Help us find this digger and seesaw a great home!

This is a raffle with one fabulous prize! This awesome digger and seesaw need a home!

The digger comes with its own ball pit, so it’s ready for action. The seesaw has its own chalkboard.

These are perfect for children up to the age of about 4.

Indoor/outdoor.

Handcrafted from wood. Sturdy.

Colourful!

And they’ve been road-tested and given the thumbs up

by Andrew & Sam Brown, here in the FX office.

Winning ticket drawn 9 August 2016 in Manly.

The winning ticketholder does not need to be present.

Raffle tickets on sale throughout July.

1 ticket for $2, 3 tickets for $5.

Or buy a book of 10 tickets for $10.

Call 1300 394 636 or email wendy@fragilex.org.au Page 10

June 2016

Fragile X Association of Australia

FXAA BOARD 2015-2016

Robyn Iredale President NSW

Bruce Donald Treasurer NSW

Cathy Love VIC

Pam Montgomery VIC

Judith Lenart Secretary NSW

NSW

Nyleta McRae QLD

Shane Mansfield VIC

Graham Hook QLD

NSW There will be two vacancies on the Board in October, due to the planned retirement of longstanding Board members Robyn Iredale and Bruce Donald.

If you’re interested in joining our Board of volunteer directors, we’d love to hear from you.

Contact Robyn Iredale or Wendy Bruce: 1300 394 636 or wendy@fragilex.org.au

Fragile X Family Support I am very pleased to have joined the Association in the role of Family Support Counsellor and look forward to getting to know more of the Fragile X Community members and their families over the coming months.

I’m available in the office and by phone Tuesdays, Thursdays and Fridays.

1300 394 636 (free call ) or Amanda@fragilex.org.au Counselling offers a safe non-judgemental place to get support with how you are feeling, an opportunity to consider new perspectives or sometimes assistance to resolve or manage your situation. I am able to offer face to face counselling (in the Sydney area) or Skype or phone-based support anywhere in Australia.

Diary Dates Wendy Mon-Fri

Amanda Katrina Liz Tue/Thurs/Fri Mon-Tue Fridays s If we can help with anything please get in touch 1300 394 636 or support@fragilex.org.au

We have a great collection of FX videos on youtube Page 11

June 2016

June / July

Membership subscription renewals due

July 22

Fragile X Awareness Day!

August 9

Raffle Draw

October

Annual General Meeting

Follow us for news Fragile X Association of Australia

NDIS I am writing a little piece about my experience to date with the NDIS with my son Marty and my brother Stuart. They are quite different in their needs. This article is for people who, like me, are new to the NDIS. Some members have already been involved in the trial sites and have had a wide range of experiences with the NDIS. Marty and Stuart are both receiving services from the state government Ageing, Disability and Home Care NSW and so we are expecting a letter from the agency (NDIA), inviting them to register.

No letters yet but this is a massive program to roll out.

Robyn Iredale

Marty Campbell: Marty lives in a flat at the back of our place on Scotland Island, Sydney, by choice. He has lived independently in his own unit (you will remember if you read my book about him) but when we returned to Sydney from Wollongong in 2005 he chose this arrangement. He has FXS and diabetes type 1 and so feels safe being close to us. I am supported, as an ‘aged carer’, by Community Care Northern Beaches (CCNB). CCNB organises workshops on various topics: such as accommodation and employment options. They also host morning parents for parents and carers to get together. Our case manager meets with us every month and we have had several discussions about the NDIS. We have jointly completed the planning (draft) document with descriptions of Marty’s current life, living arrangements and relationships and a weekly timetable of his activities (work, social tennis, tennis coaching, tournaments). The sections on goals, aspirations and supports required have involved considerable discussion and ‘dreaming’ (he wants to go and watch an international tennis tournament). At the moment he only receives subsidised house cleaning but we are expecting a phone call soon to sign Marty up.

Stuart Iredale: Stuart has two separate mutations on his X and No. 4 chromosomes and was institutionalised for 45 years.

He has lived in a group home in Sydney, belonging to The Achieve Foundation, for about 7 years now. He attends a workshop 3 days a week (currently paid for by ADHC), does music therapy once a week and goes to clubs 2 nights a week.

The Achieve Foundation arranged a meeting with the family 5-6 weeks ago and here we developed a draft plan. Achieve has also run a series of NDIS workshops which some of my siblings have attended.

Stuart’s services are well known and documented but under the NDIS there will be a redistribution of who is responsible for different aspects of his weekly program (eg transport to workshops, music therapy, club outings, exercise program). I suspect that Stuart may be ‘fast-tracked’ as his current program is pretty clear.

There may be room for deviations or additions in the future.

Robyn’s comments *

Having been overwhelmed by the NDIS for a long time, I now feel I am beginning to understand it.

But I have had the benefit of talking to many people about it.

*

It is a huge change and there will inevitably be many hitches.

Try to bear with it as in the long run I am sure it will be worth it.

*

Please contact Amanda, the FXAA Family Support Counsellor, to answer any questions that you have.

Amanda has attended a range of NDIS participant workshops and spoken to a number of our families who have successfully completed their plans and secured NDIS funding for a range of supports.

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June 2016

Fragile X Association of Australia

NDIS NDIS – What, When, Where, How – The story so far…

By Amanda Rummery-Hoy

www.ndis.gov.au

1800 800 110

The NDIS is due to be rolled out across Australia from 1 July 2016. There is a lot of information available about the scheme from the NDIS itself, other government and non government organisations, and service providers.

We’ve all been feeling a bit overloaded by the volume of information about the NDIS, and the many changes we’re hearing about. So here is a quick recap of the scheme and what we know so far.

There will be more changes on the horizon. Please get in touch with me, your Family Support Counsellor, if you have questions about how the NDIS will work, how to find an NDIS workshop in your area, or preparing a plan.

When, Who and Where The National Disability Insurance scheme started in July 2013 as a trial in four locations, including the Hunter region in NSW and Barwon region in Victoria, Tasmania and South Australia.

Trial sites now operate in all states and territories. The full scheme will begin to be rolled out across Australia from July 1 st, 2016 and is expected to be operating right across Australia by 2019-2020. (except for WA) Eligibility for the NDIS It’s important to keep in mind that access to NDIS funding is not based on a diagnosis such as Fragile X syndrome, but rather on how a disability affects a person’s daily life and their need for support. This is different to the eligibility for other funding schemes, such as BetterStart. Children under the age of 6 with a developmental delay may qualify for early intervention supports.

Work through the NDIS Access Checklist to confirm your child’s eligbility: http://www.ndis.gov.au/ndis-access-checklist When will the NDIS start in your area? Go to the NDIS website and click on your State/Territory.

Victoria and NSW start the rollout of NDIS on 1 July.

It is important to know that although you may be able to register with the NDIS from the start date in your area, it may be some time before you are contacted by the Local Area Coordinator from the community service organisation managing the NDIS in your area. This is because there will be a staged intake into the scheme for each area. There are large numbers of participants to be seen in each area, and the process of putting together a plan and having it approved and implemented is detailed and takes time.

Each State and Territory has its own unique transition timetable, which will outline when participants might commence with the Scheme.

For example in NSW, people already living in supported accommodation, attending day programs or living independently with supports will be the priority for access to the NDIS in the first six months of the rollout periods, using a simplified access process, known as First Plan. In the ACT, people are accessing the Scheme based on an 'ages and stages' approach. This means that people with a disability enter the NDIS according to either their date of birth or, for school-age children, their academic year. People in group homes will transition into the Scheme over a two-year period. When one person in a group home accesses the Scheme, so will all the other residents in that home.

For more information see the NDIS website or call the NDIS on 1800 800 110 Page 13

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NDIS....

If your child is currently receiving government funding such as BetterStart, HCWA (Helping Children with Autism) or receiving state-government funded disability services, these services will have been contacted by the NDIA and they will forward your details to the agency coordinating the scheme in your area.

Once they are ready to transition your child from their existing funding to the NDIS, you will be contacted by the Local Area Coordinator from the agency to start the steps of the planning process with you.

Keep in mind that services currently in place will continue to be provided to your child or adult son or daughter in the same way until they have been moved over to the NDIS. The timeframe for transitioning into the scheme will vary in different areas depending on local circumstances and demands.

If your child or adult son/daughter has received funding or services in the past but you have recently exited the scheme, it is best to contact the NDIS from 1st July and register with them to ensure they have your details.

If your child or adult son/daughter does not currently receive disability services, contact the NDIS and register using the Access Request Form on their website.

If your child, adult son/daughter or other family member who has Fragile X syndrome is currently not receiving services and they are in urgent need of support, you can contact the NDIS on 1800 800 110 to discuss their needs and eligibility. Or you could contact the organisation in your area that is providing the NDIS, because part of their role is to assist people with a disability to access local supports.

Good to Know Pre-planning workshops are being run by the NDIS, the Carers organisations in each State and many other organisations. These workshops can be useful as they will give you information on the pre-planning process and the planning meeting, as well as an opportunity to ask questions and hear from the experiences of others.

Some workshops are more helpful than others. Let us know if you would like help finding workshops in your area.

The Getting Plan Ready form on the NDIS website will help you prepare your child or family member’s participant statement for their plan.

The NDIS Planning Workbook will help you identify your goals, the supports yoour family member is currently receiving (funded, mainstream and informal supports) and what they need to reach their goals.

It can be used for both child and adult participants. http://www.ndis.gov.au/sites/default/files/documents/NDIS_Participant.pdf

NDIS website It has a lot of resources to help you plan, but it’s quite complex. If you need help finding what you need, contact Amanda.

Carers Impact Statement

During the planning process, carers will have opportunities to speak to the LAC or Planner to ensure their circumstances and ability to continue their caring role are considered in relation to the participant’s support needs. This information will be recorded on the participant’s record so that this can be revisited at a review of the plan. The carer may request to have this conversation without the participant and, if appropriate, the planner will facilitate this. Carers can also choose to prepare a written Carer Statement and bring this to the planning meeting or submit it to the NDIA, though this is not compulsory.

A Carer Statement may include: * How the caring role affects the carer * Whether the carer is able and willing to keep caring the same way into the future and the impact, if any, this has on the carer’s goals * Other informal supports such as family or friends * Any other information that would be important for the Planner to know.

It is important for carers to talk about their ability to care and to sustain this care in a written statement or at the planning meetings as it helps the Planner determine the NDIS supports for the participant and whether the carer needs help in their role. The Statement can be in written or in verbal form.

Carer Statement Video: Template: Page 14

The Carers Australia website has a good video explaining the NDIS Carer Statement Amanda has put together a Carer Statement template she can provide you June 2016

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NDIS Planning Meetings Different Experiences Experiences of the planning meeting will differ and may be impacted by variables such as the location of your area, the organisation coordinating the NDIS in your area, the Local Area Coordinator (LAC), and your Planner.

You may be offered support with pre planning and a face to face planning meeting to put the plan together.

In other areas your contact may be by telephone only and much briefer.

What to take with you It can be very helpful to have your plan as fully prepared as possible when you have your planning meeting with the Local Area Coordinator. The meeting time can then be used for fine tuning your plan and is a realistic approach given the time frames available for the planning meeting.

If your child or adult son/daughter will not be able to manage the planning meeting, consider having them there initially so the Planner can meet them. If possible bring a support person who could take your child out and look after them while you finish the meeting.

Alternatively, take photos or video of your child to help the Planner understand some of the challenges for your child or adult son/daughter as well as their interests.

Contact Amanda for more tips on what you can prepare in advance for the planning meeting.

Questions and Support If you have any questions or are needing assistance or support in planning for or any other aspect of the NDIS, call me, the FXAA Family Support Counsellor. I am in the office on Tuesdays, Thursdays and Fridays each week.

Call 1300 394 636, or email amanda@fragilex.org.au A Fragile X/NDIS facebook discussion group will be set up to provide a space for our members to share their experiences in accessing the NDIS or getting ready. I will keep the group updated with any new information or tips that come to hand.

FXAA website: other information, links and tips will be placed on www.fragilex.org.au.

Keeping uptodate with the NDIS through websites and facebook pages Many organisations are providing updates on NDIS. Here are a few we follow:

www.ndis.gov.au

Raising Children Network is a government-funded information service for parents.

The NDIA has partnered with the Raising Children Network website to create online articles and a videos series to help parents get ready for NDIS. The website has a comprehensive and easy to use website.

Raising Children Network also has an excellent facebook presence providing regular provides articles and brief videos about the NDIS. Page 15

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Family Support Groups in the States In Melbourne: In Melbourne a group of families from Victoria gets together once a month for a lunch or outing. The dates and locations are posted in the FX Victorian group facebook page.

If you’d like to catch up with other families at these get togethers , contact Bronwyn by email bronwyn@seanwyn.net or call Wendy in the Fragile X office on 1300 394 636.

In Perth: Shante Sweeney arranges occasional get togethers for FX families in the Perth area.

Details are in the WA Fragile X Group on facebook. Or contact Shante: sripper-sebbes@hotmail.com In Sydney: Two FX family picnic will be arranged later this year. One will be held in Galston, in NW Sydney, on Saturday 15 October, as part of the Galston Garden Club Open Gardens event.

Wendy will email details to NSW-based families, and post on facebook.

In Brisbane: Contact Nyleta McRae for details of family get togethers in Brisbane: Nyleta@hotmail.com

Profiling Fragile X in the Medical Community

By Katrina Weir

Available on youtube

Dr Jane Tracy is the director of the Centre for Developmental Disability Health in Victoria. Late last year Dr Tracy spoke at the GP Education Day in Melbourne, at the invitation of Fragile X Association of Australia, on the role of the GP in the care of people with developmental disabilities and autism.

In her presentation Dr Tracy stressed the need for GPs to understand the cause of a person’s disability in order to provide effective healthcare management.

In giving key health messages to GPs, she used Fragile X syndrome as an example to illustrate how 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 FX. Many Thanks to HealthEd for making available to us this video of Dr Jane Tracy speaking at the GP Education Day in Melbourne in 2015 about healthcare for people with disabilities.

This 30-minute video is available on the Fragile X Association of Australia youtube Page 16

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Genetics Hi, my name is... Jacintha and I am a Masters of Genetic Counselling student who has spent some time volunteering at the Fragile X Association this year.

I have an IVF background and for the last 15 years have worked in an IVF laboratory to help mainly infertile couples with their dream of becoming a family. A small proportion of people I assisted over the years had a known genetic condition for which they wanted to screen their embryos such that they could avoid passing this condition on to future generations.

It was this group of patients which reignited my passion for genetics.

And I recognised the importance of talking to couples about sensitive topics in a way which made it easier to understand. I applied for the Masters in Genetic Counselling course at the University of Sydney and was delighted to be one of 12 students to be offered a place in the program.

Amongst the other students there are students with a genetics and molecular biology background, and also students with a history in psychology & counselling.

Our lectures are from genetic experts in the field – either specific genetic disorders or hereditary cancer syndromes.

In addition, there are counselling modules which will hopefully provide us with the necessary skills to communicate complex genetics in a way people can understand, but also enable us to be a patient advocate – to listen and understand the needs of people affected by a genetic condition, either themselves or a family member. A genetic counsellor essentially is an ear or a voice for them, if and when required.

During the two years of the course I will be undertaking placements with qualified genetic counsellors at various genetic services across Australia. I will also be conducting a research project on Fragile X, the details of which I am hoping to share with you over the next coming months.

Outside of my study and work commitments, I enjoy keeping fit and healthy and have participated in a few triathlons & fun runs. While I may have to take a break from the half ironmans and marathons, I am hoping to run in the Sydney City to Surf in August and perhaps participate in the Bondi to Bronte swim if I can get used to the cooler water temperature! (having relocated from the Sunshine Coast to Sydney for my studies). I also enjoy travel, and consider myself very fortunate to have made it to a fair few amazing locations - the most memorable of which would have to be Mt Everest base camp in 2014.

I would like to thank the Fragile X Association of Australia for allowing me to spend some time with them over several weeks. The experience has been very enriching – I have learnt so much about a condition I knew relatively little about. During my time with the Association I hope to raise public awareness of the condition and hope to make a positive contribution to the wonderful work the Association does for its members.

Genetic Alliance Australia invites you to share your views on genome sequencing Genome sequencing is the process of reading a persons' entire genetic material; their DNA. It is a new technology that has the potential to help with the diagnosis of underlying genetic disorders and influence decisions about future healthcare.

However, as with all new technologies, there are a range of considerations that need to be thought through before it becomes fully integrated into the healthcare system.

Through its Australian Patients and Families’ Perspectives on Genome Sequencing project, Genetic Alliance Australia has developed a survey to find out what patients and families think about genome sequencing and its potential impact in Australia. The survey, together with the results of some focus groups, will become an Australian Patient Charter on Genome Sequencing that will help health policy makers work out how to integrate the technology into our health system.

If you are a parent or carer of a person with Fragile X syndrome, a person with Fragile X syndrome who is over 18 years of age or a carrier of the Fragile X gene premutation, please take the time to complete the survey. You don’t need an in-depth understanding of genome sequencing to participate as there is a video and case study to read at any time throughout the survey. The survey takes about 45-60 minutes to complete and will remain open until 5pm (AEST) on 8th July 2016. More details and link to the survey: http://www.geneticalliance.org.au/ Page 17

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Royal Hospital for Women hosts FXAA and Professor Ted Brown

By Jacintha Luermans, Masters of Genetic Counselling student volunteer at FXAA Fragile X Association of Australia, together with Professor Bill Ledger, Head and Professor Obstetrics and Gynaecology at the Royal Hospital for Women (Randwick, Sydney), was fortunate enough to host the Grand Rounds at the hospital in April. The Grand Rounds is an information session for health care professionals about a particular area of interest.

Professor W Ted Brown, Director, New York State Institute for Basic Research in Developmental Disabilities and a world expert on Fragile X Syndrome, talked to an audience of about 60 doctors, nurses, geneticists & counsellors on the clinical aspects of the Fragile X Syndrome and also some of the recent research he and his colleagues are involved in.

Prof Ledger and Prof Brown with Katrina Weir (FXAA), Michelle Johnson (RHW Foundation), Wendy Bruce (FXAA)

Fragile X Syndrome is recognised as the most common inherited cause of intellectual disability and the prevalence of the condition seems the same no matter where you are in the world. Therefore, making sure health care professionals are aware of the condition is an important way of ensuring a diagnosis is made early on in a child’s development. After the presentation, there were 60 health care professionals more aware of Fragile X! Professor Brown gave a lot of background information about Fragile X syndrome – its history & how it was discovered, the genetics and the clinical aspects including the possible link to autism spectrum disorder (ASD). He reported that about half the males affected with Fragile X are also diagnosed with ASD. Moreover, about 2-4% of males with autism also have Fragile X syndrome. Prof Brown and his team of researchers were the first to identify the link between Fragile X syndrome and ASD back in 1982 and many studies have since followed.

In terms of some of the ongoing research, he talked about what happens (or rather what doesn’t happen) when someone has the faulty gene which causes the Fragile X syndrome. Fragile X syndrome is caused when a DNA sequence is repeated to such a large extent that is actually stops a protein from being made – the FMRP protein.

This protein is involved in controlling other genes which are required to make proper connections in the brain.

Without the FMRP protein, these other proteins are uncontrolled and this leads to different brain connections compared to those in individuals with a functioning FMRP protein. Glutamate is a neurotransmitter thought to be under the control of the FMRP protein. Research in mice with Fragile X Syndrome has shown that by stopping the uncontrolled glutamate from connecting to its receptors some of the connections formed in the brain are very similar to those in mice with a functioning FMRP protein. In other words, trying to regain control of the glutamate might allow the connections to form properly again. Unfortunately researchers haven’t been able to show the same in humans, but studies are ongoing.

Another area of interest is developing an inexpensive screening test which would allow doctors to detect the missing FMRP protein very early on – perhaps even as early as with the newborn screening test. Currently the newborn screening test (also known as the Guthrie test, heel prick test or Dry Blood Spot (DBS) test) screens for some common genetic conditions (such as Cystic Fibrosis and PKU) which benefit from early treatment if detected in newborns. A DNA test, which is available, is unfortunately too expensive to screen all babies for Fragile X Syndrome and may also detect other conditions, which raises ethical concerns. A protein test for the FMRP protein is far less expensive and has been shown to be able to detect boys with Fragile X Syndrome in a few small studies conducted in Australia and the USA on stored DBS cards. The test is now undergoing further validation in China where 100,000 newborn baby boys are being screened. Unfortunately, the test is currently not sensitive enough to detect girls that are affected with Fragile X Syndrome, because they tend to have some FMRP protein present. This may be one of the hurdles in having the protein test incorporated into the newborn screening programs.

The screening test would be of benefit in providing families with an early diagnosis. And as research into treatment continues, the hope is that eventually we may be able to offer a better outcome for individuals affected by the condition. We were very fortunate to have Professor Brown share his knowledge and expertise with us and are very thankful for his passion and dedication into Fragile X Syndrome research. We are also grateful to Professor Ledger for being the moderator of the event and for championing Fragile X awareness.

Many thanks to Royal Hospital for Women and Royal Hospital for Women Foundation for supporting this event.

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Research Matters This year Murdoch Childrens Research Institute celebrates 30 years of lifechanging discoveries. To mark this milestone the Institute is celebrating its scientists - the unsung heroes making a real difference to the health of children.

Dr David Godler is one of those scientists, and a member of the FXAA Scientific & Research Committee.

David Godler knew from a young age he wanted to combine his love of biology with a desire to change lives.

“I always admired scientists who made a difference,” the geneticist says.

“When I was young I thought, ‘what is the best way to contribute?’

“I think improving people’s lives is a big thing, not just so that you are remembered, but so other people will live better lives.”

Dr David Godler

David, who fled with his family to Australia from the war-torn former Soviet Union in 1991, understands what it is like to want a chance at a better life. “Everyone wants to leave something behind,” he says.

David was 12 when his family left the USSR (his birthplace is now known as the Republic of Moldova). He remembers running into demonstrations on his way to school. “You had to run in the other direction very quickly,” he recalls. “If you were stopped and you couldn’t speak the native language fluently, you were in trouble.” But his family, who had relatives in Australia, could not move as soon as they would have liked because of restrictions associated with his parent’s jobs. When the state collapsed, the family was allowed to leave. They took the first flight they could.

Through his research, David’s dream of helping others is coming true. He hopes to improve the lives of children and their families affected by genetic conditions including fragile X syndrome.

Fragile X, which affects one in 4,000 children born every year, is a common genetic cause of intellectual disability and autism. The inherited disorder is caused by a faulty switch of an important gene called FMR1, located on the X chromosome.

The syndrome is estimated to cost the Australian economy up to $180 million a year, or $2.5 million per child.

David and his team have already developed world-first genetic tools that may make possible the inclusion of fragile X as part of the newborn heel-prick test. This blood test screens babies for more than 30 congenital disorders.

The team is now investigating – in the world’s largest fragile X study – how often the syndrome occurs and how well the test works on 100,000 male and female newborns.

“Whilst it is known that large numbers of new families are diagnosed with fragile X syndrome each year, this diagnosis is often not made until children reach school age,” says David. “By this time parents may have had another affected child. A delayed diagnosis and failure to recognise and manage fragile X syndrome also means that families may not receive the best early interventions.”

David and his team believe that some children with fragile X syndrome might be missed altogether because there is no routine testing for all children. “This project will give us some idea of how many children or young people with fragile X syndrome remain undiagnosed and whether routine newborn screening would fill this gap,” says David.

“If the condition is detected early it would also give families more options for the future, including the choice to have children using preimplantation genetic diagnosis through IVF, who would be unaffected.”

David and his team will also collect information on the cost of raising a child with fragile X to show government that routine screening is cost effective. The same technology underpinning the fragile X test is being used by David and his colleagues to develop newborn screening and diagnostic tests for three other genetic conditions - Prader-Willi Syndrome, Angelman’s Syndrome and Chromosome 15 duplication syndrome.

“We are now developing different diagnostic and screening tests based on the technology initially developed for fragile X which will pick up all four conditions from one tiny portion of DNA,” says David.

Thousands of children and families touched by fragile X and these other disorders now stand to benefit from his research, bringing David a step closer to fulfilling his childhood dream.”

Many thanks to Murdoch Childrens Research Institute for allowing us to reproduce this article and photo.

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