Alex | Living proof that you’re never too old to learn!

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

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

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

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

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

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

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

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

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

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

Alex Cooking

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

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

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

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

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

Thanks to Alex and Sue for sharing his story.

 

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FX info newsletter – latest edition

Our March newsletter has news on a range of fronts:

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

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

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

Update on Fragile X engagement in the medical community

Our new Family Support counsellor, Amanda

fx info_March 2016

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

Paddy and family_sent July 2015_Formal (80)

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

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

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

Read the full story here:    http://bit.ly/23mCrBe

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

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

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

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

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

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

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

 

 

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Free FX Study: aiming to improve outcomes through earlier diagnosis

 

The FREE FX STUDY

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

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

What is the research project about?

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

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

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

What does taking part in this research project involve?

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

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

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

What are the possible benefits of this research?

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

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

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

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

 

 

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Isaac – Achievement Award 2015

ZooYouth program provides opportunity to volunteer with animals

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

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

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

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

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

Isaac and zoo volunteer with turtle

Isaac and zoo volunteer with turtle

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

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

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

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

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

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

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

Congratulations to Isaac on his Fragile X Achievement Award 2015!

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Newborn bloodspot screening: national policy framework

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

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

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

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

NBSWG_Consultation_Survey

NBSWG_Consultation_Survey

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

 

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Neuren reports positive results in Fragile X Phase II study

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

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

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Harrison: Achievement Award 2015

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

Harrison Schmitt_karate_2015

Dedication to Karate Reaps Rewards on Many Levels

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

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

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

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

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

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

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

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

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

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

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

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

 

 

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Out now: FX newsletter December 2015

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

fx info_December 2015_website

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