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PWSAV May 2016 Newsletter - 1 -

Cactus, nine years on

Up coming events

Go Orange for PWS

Day 27th May 2016

Family Day

11th September

(tba)

by “The Cactus Lady” Joanne Griggs I have been asked to write an article on “a great achievement”. I can’t quite explain the relief I feel by having this opportunity … but thank you and here goes. Sitting at our breakfast bench in Eltham, I wonder at the freedom we have achieved since Mia’s diagnosis at 18 months of age.

It’s not always easy and PWS continues to confound but we have intervened well and the list of victories is larger than the list of problems. A fleeting memory jumps into my head of the OT we argued with back in 2006. This “well-meaning” OT was keen to spend $2,000 of our hard earned funding on locking the kitchen and putting up gates. I remember she refused to work with our family once we said “no”. Now… nine years on, Mia’s Easter eggs are

sitting in an easily accessible cupboard (one month after Easter) and I will soon throw them out, as I do every year. Quite honestly they are more of a temptation to me than Mia. This freedom at home and hopefully independence in the future, has been (and continues to be) a big part of our family’s focus. In fact it’s been my life as I type ever closer to finishing my PhD on PWS, appetite and the Indian cactus succulent Caralluma Fimbriata.

I recall the day in 2006 when we understood what “hyperphagia”, was, (an uncontrollable appetite). It was ‘Father’s day’ and we were out living life, as well as we could under the circumstances, with twin two year olds, one newly diagnosed as having PWS - due to her overweight body and ravenous hunger. They thought Mia had Cerebral palsy at birth, but that’s another story. Anyway this celebration of fatherhood was abruptly stopped when

Mia climbed up and over a table to stuff boiling hot chips in her mouth. That moment we knew, the enjoyment, the social idea of food … was gone! Adam

and I sent out a prayer. “Please give us a chromosome 15!” I can’t recall how long the answer was in coming but it came in the form of a health newsletter, through our letter box. “Dieting with cacti” was the cover with a picture of a cactus and an article explaining how the Kalahari Bushmen ate cactus to curb their appetite on tribal hunts. After researching

dose and risk through the manufacturers, I sourced Caralluma fimbriata extract (CFE) and gave Mia exactly 125mg of CFE in a small amount of juice drink, each morning. It was a risk, especially in a two year old but she seemed fine with it and we quickly nick-named this Mia’s “Yuckits”, because it was gross. Within the week, Mia did something unusual, she reached past a full plate of food, to pick up a doll. A frenzy of videos

followed like Mia saying “no” to dinner because she wanted to draw. We wanted others to know how well it worked. Parents from the Victorian PWSA may recall how early on, I handed out a sheet at the RCH clinic with the details of CFE… but at the time I was a new parent, a ballet teacher/artist, so let’s just say the interest was minimal. Perhaps people thought we just hadn’t experienced how bad it could get.

Mia at Cactus World

Go Orange

Don’t forget it’s Go

Orange for PWS

27th May.

There are many

ways to help

suport the Go

Orange campaign

just viist the

website

go-orange.org.au


But we had. Mia was hungry very early and in 2010 when we ran out of CFE from O.S., I decided to try Mia off the cactus. In the back of my mind I was thinking perhaps we

are making the whole thing up, perhaps she wasn’t that bad in the first place. Anyway, that week was horrific. It took only two days for us to witness full blown hyperphagia: constant crying, asking, snatching etc. Mia was a different girl and we missed the other little girl who was interested in more than food. Yuckits came back ASAP. We videoed all these changes, which became quite important as later that year I took them to a professor I knew at Melb.

University; Prof. Derek Denton was the founder the Florey Neuroscience Institute and the husband of my friend and ballet teacher Dame Margaret Scott. He and Prof. Michael McKinley watched my videos of Mia on and off CFE and after many scary questions about salt and sugar (remember I was just a MUM). They agreed to “give it to some mice and see what happens”. The next year I heard that a student at VU was looking at CFE in obese adults (not PWS). This was not

what I had wanted so... well… ok, I had to do it myself. In 2011 I initiated a double blind randomized cross over trial. Children and adolescents with confirmed PWS drinking the CFE or a non-active placebo, each morning for four weeks, two weeks off and then four weeks the other treatment. Their appetite behaviour was recorded by their parents at baseline, till the end of treatment, through a validated hyperphagia questionnaire. Yep I

gave the security of my job at the ballet away and became a scientist with a whole new language. Our cohort was small due to rarity and vulnerability of PWS and ethics was so strict, especially because I had no scientific background. I tried to recruit people by going on the news. Some may know how that worked out as the Channel nine news collaborated with Swisse unbeknownst to us and Mia and I were used to sell their product even placing us on a Current Affair as though I was a mum trying

my daughter on CFE for the first time. It didn’t help my recruiting.

Even so, I worked really hard and became the valedictorian in my B.SC (Hons). With this I was able to get an APA government funded PhD, so I could continue this study in a larger

group. Luckily to, the IPWSO scientists were interested in this work and I was treated to trip to Cambridge University to speak on our “interim results” which showed significant change to appetite behaviors with no adverse effects. So now, two weeks to go on my PhD and we know CFE works to reduce appetite in PWS - for some but not all. I believe the main difference in efficacy is dose. CFE has worked really well at a higher dose with a

lower weight. This will need to be tested further in adults. Luckily the supplement has been through comprehensive safety assessments and the product is now listed with the TGA. Kids say it takes away the rumbles in their tummy and some parents have been overwhelmed by the change. I have heard of about twenty-six individuals with PWS ingesting CFE and I would love to hear from you if your family member is to. Just email me on

[email protected] I have a couple of papers published and my book of course “Miracle in Potential”. One paper is on the treatments in PWS to date and the other is on CFE in children and adolescents (Griggs et al., 2015a, Griggs et al., 2015b). I have also discovered a mechanism of action for CFE, in, dare I say it – I’m an animal lover too - in the Snord116 mouse model. This will be published this year. The photo of Mia was taken at a cactus farm

near my parents, house on the Murray River. There are 200 numbered cacti from all over the world. This is the cactus, I first saw on that newsletter when I prayed for a new chromosome 15. Yep it was number 15! If anyone wants to help us fund research on dose and the plants now growing especially for PWS let me know. Thanks to Bern Walker and to all those who have participated so far. (Joanne Griggs B.Sc (Hons), Dip B. Mang. Dip

ABS, PhD candidate)

Kids say it takes

away the rumbles

in their tummy and

some parents have

been overwhelmed

by the change.


Welcome to the second edition of our newsletter for 2016, another great issue packed with news for you. There’s a report from this year’s Time Out Camp with some great photos. Feedback has been extremely positive. Thanks so much to Tessa Maguire and Sarah Rees for their hard work in pulling it all together and to

the team of volunteers, without who’s help we could not have a camp. We have an update from our friends at the Prader-Willi Research Foundation Australia, some school lunch and snack options for you. We also have an article from Jo Griggs regarding the publishing of her research, which is a fantastic achievement after years of hard work and dedication.

We’re now gearing up for Prader-Willi Awareness Month and our annual Go Orange day on Friday 27th May. Make sure you get on board and share the event and daily posts with your family and friends. Finally, we’re still looking for an editor for

our newsletter to plan and gather the articles. We want to continue to bring this quarterly publication to you all and could really do with someone performing that role. If you have been toying with the idea, take that step and go for it! We’d be extremely grateful for the help. Happy Reading! Bern Walker

President’s message

Bern Walker

PWSA VIC

President

Time Out Camp 2016


AWARENESS LEADS

TO ACCEPTANCE

Go Orange 2016 Go Orange for PWS Day is coming soon and it just gets bigger and better each year!

As the last Friday in May this year it will be 27th May. It is our day when we ask everyone to wear something Orange, make a donation to their local PWS Association, buy merchandise but most of all ….. talk about PWS. We aim to raise as much awareness about PWS as we can and hopefully also raise some much needed funds. Here’s some ways you can help to spread the word and make Go Orange Go

Global! Check out the website: It has loads of ideas on how to go orange with posters and pics to download. www.go-orange.org.au Buy some merchandise: We have the usual Ribbons, Wristbands, Pens and Bottles and we have added some very classy Lapel pins and Bracelets. Buy in

bulk and save $$. Free delivery to anywhere in Australia so buy up big! Buy a T-Shirt: We have some catchy Go Orange designs as well as a beautiful “I Love Someone with PWS” design. T-shirts come in many different sizes and colours. We also have a collared polo shirt, hoodies and caps. We are sure you will find something for everyone! The T-Shirt store is managed by another company and they will charge postage so maybe

get together with friends and make one big order to save on the postage costs.

Like the PWSA VIC Facebook Page: Like the page and invite all you friends to like it. We will be posting regular updates,

PWS facts and personal stories throughout the month of May to share with your friends. It will be an easy, fun way of educating your extended family and friends Prader-Willi Syndrome Assoc. of Victoria

(PWSAV)

Join the Go Orange Event: Join and invite all your friends to join. We will post Go

Orange updates and post photos. We encourage everyone to post photos at any time too. Show us how you’re going orange!

www.facebook.com/events/205117366545618/ Fundraise: Setup an Everyday Hero page and ask your friends to donate. Share your page on Facebook or email the link to maxamise the Host your own event

(look on the website for ideas) and ask your friends to donate to your page or do a challenge like “live on 1000 calories per day” or “give up junk food” for a week. All pages that raise $500 or more will go into a draw to win a brand new 32” colour TV. So let’s make it a fun competition where we ALL win! **AWARENESS LEADS TO ACCEPTANCE**


President Greg King

Note: Please do not attend the clinic without

an appointment.

To make appointments contact the clinic

coordinator on 9345 4765

PWS Clinic Dates

Greg King has been a member of the Rotary

Club of Doncaster for many years and this year

he will be pronounced president of the Club.

Greg has been a great ambassador of PWSA

VIC for many years which is why he was given

the PWSA VIC’s Sally Smith Award in 2014 and

he continues to champion our cause.

The president’s changeover dinner will be held

on June 29th

2016 and it would be nice if some

us were there to show him some support as he

has done for us. If you would like to attend

please email Tessa Maguire

at [email protected]

Pre-school clinics

May 6th 2016 Aug 5th 2016 Nov 4th 2016

School Aged clinics


Newborn clinics



Participants Wanted for weight training! by Prof Nora Shields We want to find out if young people with

Prader Willi syndrome get stronger by lifting weights in the gym and WE WOULD LIKE YOU TO HELP US!

What is involved?

Your adolescent or young adult would be allocated at random to either an exercise group, or be asked to continue their regular daily activities (control group). The exercise group participants will be teamed up with a physiotherapist. The physiotherapist will help your adolescent or

young adult to exercise at a local gym, twice a week for 10 weeks, for approximately 45 – 60 minutes. The days and times of training will be decided in consultation with you. The control group will be asked to continue their regular daily activities for 10 weeks, while the exercise program is running. Once this has finished, they will have the opportunity to take part in the 10-week

exercise program with a physiotherapist, at a local gym. We will measure how strong your adolescent

or young adult is before they start the programme, and after it finishes. How much will it cost?

We will cover the cost of the gym visits and will contribute a small amount towards the cost of your travel associated with the project. Who will be taking part?

Young people with Prader Willi syndrome aged 13-39 years.

Who is organising this study?

Prof Nora Shields and Prof Nick Taylor are research physiotherapists at La Trobe University, and Prof Kim Bennell is a research physiotherapist at Melbourne University.

Interested?

If you are interested in taking part or you have any questions regarding this study please contact Prof Nora Shields (03 9479

5852 or [email protected])

IPWSO Conference

Mark the dates on your calendar and start making plans to attend. Our online registration form and additional Conference details at

www.fpwr.ca/news-events/events/ipwso-

conference/


by James O’Brien The pace at National has been frantic! Two of the projects we are currently working on

are: Newborn Bloodspot Screening

A Newborn Bloodspot Screening test developed by Dr David Godler and his team at the Murdock Children's Research Institute in Melbourne has now entered the proving stage. David and his team will be analysing over 100,000 newborn bloodspots for 4 syndromes located in the 15th chromosome, Fragile X, Angelmans, 15q

Duplication and PWS. If successful the new test will be far less invasive than current testing and may also assist in pinpointing more accurately various types of PWS. Our role in this research is to assist David’s team in locating families for follow up appointments and to liaise with Dr Richard Norman of Curtin University. Richard’s team will be undertaking a Health Economics Report into the benefit of early diagnosis.

We may need your help with these research projects in the near future. Nation Disability Insurance Scheme

The National Disability Insurance Scheme (NDIS) is now helping some of our families in trial sites. Thanks largely to our National Secretary, Anne Sakaris, PWSAA has been fortunate in receiving a grant from the NDIS to produce a series of information and education resources. These resources will

help families in understanding what may be possible in their negotiations with NDIS. Furthermore, resources under development will aid new and existing service providers in better meeting the needs of our young people and adults with PWS. PWSAA is concurrently developing a new National PWS website as a method of delivering the new resources to the

broader community. Hopefully through this process we will also enable NDIS employees to better understanding the challenges of daily life that our children

face. A huge thank you to our National committee, together with some terrific assistance from project team members for your tireless work! James O’Brien President PWSAA

PWSA Australia Report

New test may assist

in pinpointing more

accurately various

types of PWS.


Time Out Camp 2016

by Sarah Rees This year we visited a new camp in Toolangi. From all the feedback it appears the venue was a huge success. With roomy cabins for each family, exciting

activities and great meeting area we all had a ball. The staff were so helpful and our meals were delicious as well as PWS friendly. We were missing a few of our regular families this year but also welcomed some new ones. Our PWS community is forever evolving. The camp is aimed at giving the parents a break, our kids (PWS and siblings) some fun interaction and a venue to get together and connect in person.

It was lovely to see a lot more of our younger families attend this year which allowed us to plan activities for toddlers and pre-schoolers as well. Many of the kids (and parents) stepped outside their comfort zones to tackle the flying fox, possum ride, high ropes and obstacle courses. Inside the jigsaws were been completed at an amazing rate and crafts

were being enjoyed by everyone, young and

old.


Kevin Airey and his band “Violet Rumble” provided some awesome music for our Saturday night disco. We really appreciate the band travelling to play for us each year. Movie night with popcorn is also a regular. It is really hard to explain how much fun the

Time Out camps are. Our PWS journeys are all so different and can be so isolating. To come together at a camp of just PWS families is a unique experience. All quirks, meltdowns and cuteness overloads are accepted. The camp is an experience of coming together that just isn’t the same as meeting at the Clinic waiting rooms or chatting on FB sites. I am proud to be a part of organising this amazing event and would love to see even

more families joining us each year. To our 2016 attendees – See you next year!


Prader-Willi Research Foundation of

Australia – April update

by Kathlene Jones At a glance:

• We’ve held official launches in

Melbourne and Sydney, building

support among researchers,

government, philanthropists and

media for more research into PWS

• We’re getting excellent support

from the scientific community

• Gofundraise platform – and our

wonderful supporters

• Seeking volunteers in administration

and grant writing

• Spread the word

Officially launched

We’ve been delighted to have held two official launch events in Melbourne (February) and Sydney (April). These events have been an opportunity for us to gather opinion leaders – researchers, members of government and media – and provide an understanding of why research into PWS is

so important. In the words of our Chairman, Dr Ian Watt AO, PWS is a devastating condition and if we were an island of 1500 families Australians would move heaven and earth to change this situation. Our mission as a foundation is to improve the clinical outcomes and treatments for PWS. At our Melbourne event, Professor Bob Williamson AO highlighted that research must happen here in Australia because top clinical care happens in the same places

research does. Professor Williamson also pointed to cystic fibrosis as an example of how an involved community of researchers and families can make an enormous

difference to people’s lives. About 3000 people in Australia have cystic fibrosis, and through the efforts of an involved and dedicated community has lead to dramatically improved life expectancies and quality of life. This example is incredibly important for PWS – research can change lives.

We’re incredibly thankful to all those who took the time to be involved in the preparation for the events, attended the launch and shared their time with us. Special thanks go to the Honourable Jenny Macklin MP, the Honourable Stephen Conroy MP, Mr Peter Fritz AM, Global Access Partners and Angela Scaffidi of SenateSHJ.

Researchers at the ready

What will drive the success of our foundation is the quality of research undertaken to improve the lives of people living with PWS. We’ve been overwhelmed by the support we’ve received so far from the Australian scientific community. In December, The University of Melbourne hosted a PWS research round-table involving the Murdoch Children’s Research

Institute, the Royal Children’s Hospital (Vic), IBM Australia, and experts from the University’s Faculty of Medicine, Dentistry and Health Sciences. It was an enthusiastic and supportive group, and we’re delighted to announce that all present have agreed to collaborate. This is a real win for PWS research as it allows the best scientists and experts from these groups to share and combine knowledge.


Our Scientific Advisory Committee is meeting regularly to discuss the best projects and approaches. This group is voluntarily giving up their time to contribute their expertise. We’re updating our blog regularly with profiles of the researchers we have involved – you can read about Professor Anthony Hannan’s work on neural plasticity, Dr Sara Howden’s work on gene repair and stem cells and what Dr Theresa Strong thinks

are hopeful areas for PWS research. We’ve also launched an “Ask the scientist” section, with the first question posed to Dr Strong “How far off are we from being able to manage all PWS symptoms?”.

If you have questions you’d like one of our researchers to answer, please get in touch [email protected] Go fundraise platform – and our wonderful supporters

We are so appreciative of the time, energy, talent and resources of Melissa Pryor, Louise Charter and

Adrian Paul – three members of our community who have started raising funds for research. Families and friends are an important contribution to fundraising and getting PWS research onto the map. We’ve set up a Gofundraise page for anyone who wants to start their own fundraiser to benefit the PWRFA. If you plan to start one, please drop us a line at [email protected] so we can help promote your efforts.


Over the coming weeks we’ll be following along to see how Adrian’s Great Ocean Road Marathon goes, reading Louise’s City2South and Gold Coast Airport

marathons training updates and waiting to see if Melissa’s hair stays orange or gets shaved off completely! You can read all three of their stories and why they’ve chosen to raise funds at our newly established Gofundraise page www.gofundraise.com.au/beneficiary/praderwilli Seeking volunteers

The Australian scientific community has also

begun to reach out to us to seek research volunteers. To date we’ve had researchers from LaTrobe University (Vic) investigating weight training in young people who have PWS (see details on page 6), researchers from Northern Intellectual Disability Health and the University of Technology Sydney (NSW) providing and evaluating stress reduction training for parents and researchers from the Murdoch Children’s Research Institute, Hunter Genetics and the

Royal Hobart Hospital (Vic, NSW and TAS) investigating the gene SNRPN and its possible links to behavioural problems. We update our blog regularly with profiles of researchers, “Ask the scientist” posts, research news and information we think is useful to the PWS community. We invite you to read at www.praderwilli.org.au We are currently looking for people to help

our small team in fundraising and administration. In particular our Family and Friends Fundraising Committee is gearing up and would love your involvement. If you can spare 1-2 hours per week, please contact us at [email protected] Spread the word

Finally, we’ve heard many times from influential researchers and members of government that hearing the stories of people living with PWS and seeing the

commitment of the community is so important. We have set up social media accounts and would greatly appreciate your support in liking, following and sharing

these: Twitter: @PWRFA Facebook: facebook.com/pwrfa LinkedIn: www.linkedin.com/compa

ny/prader-willi-research-foundation-of-australia We’ve also established a newsletter so we can provide information to you directly. You can sign up at: www.praderwilli.org.au/blog/2016/2/2/pwrfa-newsletter

And finally…

Thank you to everyone who has contributed so far – in large and small ways. The only way we can make change happen for people living with PWS is to show that as a community we are committed, we care and we believe research will make a difference. Today’s science gives us unprecedented hope for

people living with PWS, which is at the centre of everything we do, every day. Your support has helped us hit the ground running, assemble an excellent group of scientists, advisors and volunteers. We’re looking forward to announcing the first of our research projects soon.

We are currently

looking for people

to help our small

team in fundraising

and administration.


Tasmanian news

by Anne Sakaris FAMILY PICNIC It was lovely to catch up with some of our families at our recent picnic in Campbell

Town. The weather was great, cricket skills were expanded and the UNO games were fun, with a healthy dose of competition. We also had some grandmothers join us, making 3 generations for Andrea and Evie.

If you would like to make contact with someone in your Tasmanian region:

SOUTH (Hobart) Ray & Anne Sakaris 62436090 NORTH (Launceston)

Tanya Roney 63262341 NORTH WEST (Devonport)

Darren & Joanne Phillips 64232852


Tasmanian training sessions


Healthy options

by Bern Walker Healthy School Lunches

I thought this month I’d provide some suggestions for healthy options for school lunch

boxes. If you are prepared there are heaps of alternatives to sandwiches for lunch. A great tip to make it as easy as possible is to make batches of protein snacks and freeze them so you always have a healthy protein option on hand. Combine your protein with some healthy fat (avocado, almond spread, almonds, olive oil, etc) and some carbohydrate (can be salad greens, veggies, a few small brown rice crackers, buckwheat crispbread) and you have a healthy lunch. So here are a few lunchbox ideas.

• Boiled egg • Celery or carrot sticks with almond butter

• Handful of almonds • Blueberries, blackberries, strawberries • Fritters – spinach; zucchini; any veggie combo! • Meatballs (see recipe below)** with smashed avocado ‘dip’ (recipe below) • Crispy chicken strips with smashed avocado ‘dip’ • Tinned salmon or tuna, drained, add olive oil and mashed avocado • Yoghurt – natural no added sugar (Add chia seeds, blueberries, sunflower

seeds, slivered almonds etc for flavour and texture – whatever you want!) • Salad greens/baby spinach, cucumber, tomatoe • Mini frittata/egg cups** (make in mini muffin pans) • Healthy mini muffins**

• Buckwheat crispbread (Orgran brand from health food section) spread with avocado and slice of cheese or almond spread or other nut spread

** Can be made ahead and frozen

Mini Meatballs

Meatballs are great to make in a batch and freeze in a container. Just defrost the day before and cook on the frypan either the night before or in the morning. You can add anything to them but I just keep it simple:

• 500gms premium mince • A handful flat leaf parsley chopped

• Approx 3-4 tablespoons grated parmesan • Optional: tablespoon of chutney

Roll in to balls and cook on a medium frypan with a little healthy oil of choice. Great with avocado ‘dip’ or hommus. You can freeze them uncooked with glad wrap or baking paper between layers. Note: I don’t use egg to bind because I don’t use the lowest fat mince but if you use ultra low fat mince you will probably need some whisked egg to bind the mix.


About us

PSWA VIC

Newsletter

Editor -

tba

Production -

Warren Maguire

Send any articles

to [email protected]

Join us on Facebook PWS Support for Aussies

Prader-Willi Syndrome Assoc. of Victoria (PWSAV)

The Prader-Willi Syndrome Association of Victoria Inc. was set up in 1978 by parents of children affected by the syndrome and is totally run by volunteers. It has a long experience of providing help and information. Our membership focuses on Victoria, Tasmania and South Australia although anyone is welcome to join. Our members include parents and carers, family members, people with PWS, professionals and interested supporters.

To contact us: Prader-Willi Syndrome Association of Victoria PO Box 92 Kew 3101 Australia phone: 0451 797 284 overseas: 61 451 797 284 email: [email protected]

web: www.pws.asn.au

Make a donation

The PWSA VIC welcome donations from

individuals and the corporate sector.

We are a registered charitable organisation with

the Australian Tax Office and all donations over

$2 are tax deductible.

PWSA Vic Board President - Bern Walker

Vice President - Tessa Maguire Training Coordinator - Kate de Josselin Treasurer - Gerry Ardesi Ordinary Member - James O'Brien Ordinary Member - Sarah Rees Ordinary Member - Melissa Baker Ordinary Member - (vacant) Executive Officer - Brett O’Farrell

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