Nedlands, WA 6009
PHOTOGRAPHY
To enable the best possible quality of life for people
with Huntington’s Disease, their families and carers,
through advocacy, support and education.
INSIDE THIS ISSUE
Members Corner……………………………....4
Raising Awareness...............…………....10
NOTE FROM RAE
A summary of our website hits for January to June this year held a surprise. We knew the year had been a busy one, but even so, were taken aback by the in f or mat ion we recently compiled about HWA’s services for January to June
this year compared with July to December 2012.
Since being launched in January 2011, the number of website hits for January to June this year was almost 50,000; an increase from 37,500 during the first six months of website operation. With this rise in online activity we are actively working to further develop online access to HWA.
If you already access HWA’s Facebook page, you will see an increase in our news feed as well as in the “Likes” for the page. Do drop in and have a look every now and again and if you have not already done so, you might like to join the people who are already following us on Facebook and use your share tag to spread awareness about HD.
Our analysis also showed that we had 40 new contacts to HWA compared with 5 during July to December 2012. This is an amazing change. At the same time:
98 referrals/agency liaison occurred compared with 26 for the previous period;
Individual support was offered on 742 occasions during January to June this year compared with 489 in July to December 2012; and
There was also an 18% increase in newsletters mailed and emailed.
Disability Care
In our last newsletter, I gave an outline of some of the developments of DisabilityCare and its roll out across Australia. At that time, Western Australia had not signed up to the National Disability Reform. However, on 5 August we received advice that the Prime Minister and Premier had signed heads of agreement for disability reform in Western Australia. The agreement is for the launch of the National Disability Insurance Scheme commencing 1 July 2014 and includes funding for the roll out of the My Way model for WA. The implementation timetable is:
July 2014 My Way Lower South West expands and becomes national launch site. Perth Hills areas of Mundaring and Kalamunda becomes DisabilityCare Australia launch site.
July 2015 My Way Cockburn Kwinana becomes national Launch site. Hills DisabilityCare Australia site expands to include Swan.
What this will mean is still to be clarified and we look forward to up dates about the implications for you and your family as DisabilityCare is implemented in Western Australia from 2014.
HD Forum
The HD Forum held in September at Centre for Learning Technology was our focus for National HD Awareness Week and an outstanding success. With seventy students and teachers attending our sincere appreciation and thanks goes to WAIMR especially Pauline Charman, HBF, Marg Gibson, Denise Wellington who worked to bring the forum together. We were fortunate also to be assisted by Melanie Cheah a Masters in Science Communications student who assisted in developing evaluation options for the Forum. I look forward to sharing the evaluation results in our next newsletter. It was heartening also to receive the following feedback from a teacher who emailed to say:
“ Thank you again for last Friday’s Huntington’s Forum. I have had emails from several parents, who said their children had a brilliant day and really enjoyed the whole experience. From a teacher’s point of view, I really enjoyed learning more about Huntington’s and thought all the sessions during the day were fantastic! Thanks again.”
Fun Run Standing out in the HDYO T shirts and with over 40 participants, this year’s Fun Run was a great success raising over $16,500 with still more donations to come. A big thank you to all those who participated and contributed to a great day in so many ways. 2014 National HD Conference The National Conference will be held in Perth at the UWA Club at the University of Western Australia. I look forward to bringing you further information as the program is developed. In the meantime, keep 11th and 12th September 2014 free for this important event. Best wishes,
Rae
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The role of Chairperson took on a very different
look for the City to Surf for Activ, when I found
myself wheelchair bound after having an injection
in my foot due to a minor problem. A huge thanks
to Daniel (ably assisted by Savannah) who pushed
me the 4km despite having four blown tyres on
the wheelchair!! What a great morning and a
wonderful turnout from the community. More
photos and an extended report in this issue.
I also had the opportunity to attend the School
Science Day this year held at the University of
Western Australia. Once again this was a very
successful event allowing HWA the opportunity to
create awareness and engage with high school
students. This joint collaboration with WAIMR and
sponsored by HBF resulted in 13 schools attending
to participate in an interactive and educational
program. The event was a highlight of National HD
Awareness week.
Along with fellow Board Member Rensie
Matthews, we will be attending and I look forward
to reporting on this event on my return. I have
been invited to take on the role of International
President for another 2 years and these elections
will also take place in Rio. When I read stories
from countries where there is little or no social
support, I am often reminded of just how
fortunate we are to live in a country where help is
available.
thanks to Bankwest and it is fantastic that all
indications are that the services provided continue
to be highly valued and well received by the HD
community. Thank you for taking part in the
survey. Your feedback enables us to evaluate
existing services and identify areas for
improvement going forward. Full Survey results
will be available shortly.
Ann Jones
Please join us at the Niche Passmore room for the
Annual General Meeting on Tuesday 29th October
at 5.45 pm.
Our guest speaker this year is Troy Cook , Project
Officer and Role Model, David Wirrpunda
Foundation.
admin@huntingtonswa.org.au or by contacting
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singing!
The next few months will be very busy at the Day Centre as we head off on our annual getaways. This year we are headed back to Busselton.
Please note that the Day Centre will be closed whilst we are away on retreat:
Wednesday 25th September 2013 Wednesday 16th October 2013 We have received a grant to enable the group to see a matinee showing of “South Pacific” at the Crown Theatre on Wednesday 4th December 2013 which will replace the usual Day Centre program on that day.
The Christmas party and last day for the Day Centre this year will be Wednesday 11th December with the Centre closed over the holiday period until 5th February 2014.
Maggie & Liz
The Day Centre is generously sponsored by the MS Society of WA
Day Centre News
A couple of months ago we were lucky enough to receive a donation of a “big telly” compliments of United Way. MS funded the installation and thanks to the very generous donation of a Wii console and games from Joel and Jarrod Baeli we have now introduced computer gaming to the group. We have started off with the Wii sports game as suggested by Vicki who attends the group (apparently she is the tenpin bowling expert at Redcliffe!). As you can see from the photos Wii gaming involves balance and coordination and it is hoped that with practice group members will be able to master the Wii!
PhD candidate Alvaro Reyes from Edith Cowan University, pictured right with Sonia, continues with his research study into the effects of respiratory muscle training. Many of the group members are taking part - along with some of the staff and volunteers as control participants! If you would like to find out more about this study p l e a s e c o n t a c t A l v a r o v i a e m a i l a.reyes@ecu.edu.au or call 6340 3932 .
Session
Grace Buchanan from Palliative Care WA Inc conducted an informative session on Tuesday 9th July 2013 about the role of Pall iative Care in Huntington’s disease.
About 20 people, including professional and family carers, attended the session where Grace provided guidance about the resources and support available through Palliative Care WA.
Palliative Care Australia says that a palliative approach is used by primary care services and practitioners to improve quality of life for individuals with a life limiting illness, their caregiver/s and family.
The palliative approach incorporates a concern for the holistic needs of patients and caregiver/s that is reflected in assessment and in the primary treatment of pain and in the provision of physical, psychological, social and spiritual care. Application of the palliative approach to the care of an individual is not delayed until the end stages of their illness. Instead, it provides a focus on active comfort-focused care and a positive approach to reducing suffering and promoting understanding of
loss and bereavement in the wider community .
The Pa l l ia t ive care webs i te ht tp : / / palliativecarewa.asn.au provides information in a practical and sensitive manner with designated sections for the general public and health care professionals. This is a wonderful resource and well worth a look.
Condolences
Barbara Waters
Jan Willis
Leza Clark
Lyn Bargewell
Carer’s Retreat
The Vines 16-18 August
A wonderful weekend retreat was enjoyed by twelve carers at The Vines Resort in August. Although the weather was a bit cool and rainy it did not dampen the spirit of the group. Everyone enjoyed catching up with old and new friends. The Shuttle Bus tour of the Swan Valley on the Saturday was a highlight. What a luxury to be driven around as a group to see and sample the delights of the Swan Valley. Lots of retail therapy, good food and good company!
The feedback from the carers attending was very positive with many of them encouraging any of you that have not attended before to consider participating in the future. Here are some of the comments received:
"A break from time to time helps to lessen your stress. You can have time to relax and be yourself – good for your sanity."
"Anyone would benefit from this time away, thoroughly recommended."
"Would recommend more carers take the opportunity."
"Absolutely beneficial in all ways."
"Being myself again even just for the weekend. No stress. More fun and laughs."
"I feel my batteries have been recharged and am going to do more to try and become more healthy."
HWA would like to thank Carers' WA and Perth Audio
Visual for providing funding for the
understand the extent to which Huntington’s
Disease affects both the sufferer and the family.
HD is a neurodegenerative disorder that affects
muscle coordination, leads to cognitive decline
and in some people, mental health problems.
Sufferers of HD are the true heroes of this world;
because they fight each day to survive against
something they cannot stop. One of these
people is my Mum.
Eight years ago my Mum was diagnosed with HD.
At the time I was only nine years old and I did not
understand the effect HD was having on my
Mum. As the years passed I learned more about
the disorder with the help of Huntington’s WA.
Now in the present I know more about HD than I
ever did but because of my chance of having HD I
fear for my future; a future that I cannot stop.
Last year was a horrible time for me as my Mum’s
disease intensified and she developed significant
mental health issues. I became anxious and
depressed. I was worried both for her and for
myself.
When I joined the Huntington’s WA youth group
over 2 years ago I found myself face to face with
teenagers and kids close to my age who understood
my own pain and anger. For the first time I found
hope through the darkness I was experiencing.
Without the support I gained from both Maggie
Speirs and Greg Chaine and the other youths, I
never would have found the hope I did. I found light
through the darkness around me.
I am now doing year 12 exams and hoping to go to
University next year. I am learning to drive and
would like to do some travelling.
I found light through the darkness around me,
because Huntington’s Disease doesn’t control our
lives or who we are, only we do.
Monique
Huntington’s WA Facebook
HWA is on Facebook! Show us some love and ‘like’ our page at https://www.facebook.com/ huntingtonswesternaustralia.
Reasons you should like the page are: (1) Stay up to date with HWA activities and events.
(2) Receive plenty of useful information.
(3) Keep connected with the HD community.
Youth Alliance Facebook
The Australian HD Youth Alliance is a national group which aims to support and connect young people across the country. ‘Like’ the alliances Facebook page to get connected at https:// www.facebook.com/theHDAlliance! There is also a ‘secret’ group for young people impacted by HD. To join, simply send the Alliance a private message expressing your interest or contact Greg by email at greg@huntingtonswa.org.au.
PAUL AND DEL NOBLE HD YOUTH SPONSORSHIP
Huntington’s WA would like to acknowledge the wonderful contribution by Paul and Del Noble who have pledged an annual donation in support of HD Youth. Recognising the importance of support to children and young people Paul and Del Noble initiated the HD Youth Sponsorship program to assist young people to participate in special projects or programs. Specifically, the sponsorship is designed to:
Empower young people to lead a healthy lifestyle;
Encourage active participation;
Develop leadership skills;
Assist with education and/or employment needs; and
Empower young people to improve decision making related to their health and well being.
The range of projects that can be funded through the Paul and Del Noble HD Youth Sponsorship is wide ranging. Examples that could qualify for sponsorship include:
Excursions
Tutoring
Workshops
One off short courses
Attainment of training cards to certificates for employment e.g. White card, Forklift Ticket, Working with Children Check, National Police Clearance.
APPLICATION GUIDELINES Applications for assistance will be considered by the
Executive Director in the context of the funds available
for this purpose.
Eligibility To qualify for HD Youth Sponsorship, young people must be a member of a family impacted by Huntington’s disease. Limits A request for $500 at any one time can be approved by the Executive Director although it is expected that requests will usually be much less than this amount. If you wish to apply for Youth sponsorship funding please contact the office for an application form.
Youth Outing
HWA’s Epic Outing last school holidays was a heap of fun. We began the day at Belmont Kart World where the smell of burnt rubber was thick in the air and the need for speed was high. After four fast-paced time trials, much duelling for position, and a major crash, a winner emerged. Thaddaeus Pejakovic was crowned King of the Karts.
Next, to allow the adrenalin to settle and refuel our tanks we had a delicious lunch at Sizzlers where we must have ordered a wheelbarrow full of cheese toast. After lunch, we crawled over to the movies and saw the movie Epic, which pretty much summed up the whole day! Everybody said that they had a fantastic time and we are looking forward to the next school holidays where we will be laser-tagging and mini-golfing!
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For You, Pop Article reproduced courtesy of The Sunday Times and perthnow.com.au 28.07.2013
GLEN QUARTERMAIN
Shelby Bailey will be running for a cause close to home when she tackles this year’s Chevron City to Surf for Active half-marathon on August 25.
Bailey is raising money and awareness for Huntington’s disease after her “Pop" Ernie was diagnosed with the neurodegenerative genetic disorder.
Prior to her Pop’s diagnosis, Bailey didn’t know much at all about the disease, which affects muscle coordination and leads to cognitive decline and psychiatric problems.
“Seeing first-hand the effects that the disease has on not only the individual but the whole family, I’m dedicated to doing whatever I can to help other families in the same position,” she said.
Bailey, 22, originally from Bunbury, is reaching for the sky in her first-ever official running event, debuting in the tough 21km discipline as a member of the HD Heroes team, which is raising funds for Huntington’s WA.
Bailey said that after her grandfather was diagnosed, Huntington’s WA provided endless amounts of support not only to her Nan, but also herself.
“As Huntington’s is hereditary, there's a chance that I may have it. Huntington’s WA has provided me with so much support and has also provided me with information for my future which has been great," she said.
Huntington’s WA youth liaison officer Greg Chaine said the team was aiming to raise $20,000 to ensure that all groups in the Huntington’s community were able to participate in retreats over the next 12 months.
“The disease not only affects the individual, but has an enormous impact on the family," he said. “Therefore at Huntington’s WA we also aim to provide support and assistance to families and carers”.
Shelby said training for the half-marathon had been an eye-opener.
“I never believed I could run; now I do. I built up my training to the point where I could run 12km. Then I thought there was no point running just 12km when I could run 21km,” she said.
Shelby trains two or three times a week with one long run—she's got up to 18km—and some sprint training. She’s also a regular at boot camp.
“I’m very close to my Nan and Pop and they’re very proud of me," she said. “They live in Collie and I know my Nan is getting all of her friends to donate”.
THANK YOU
TO THE HD HEROES TEAM
Shelby Bailey was one of over 40 people who joined the HD Heroes team. Of the 40, just over half chose to fundraise. As a result of their fantastic efforts the team has raised $16,500 so far and there are still a few donations filtering through.
Special mention must go to our top fundraiser’s:
Jimmy and Sushi Sehmi and family who raised in excess of $2000
Greg Chaine, Shelby Bailey, Ann Jones, Shivaun Willis, Jenny Morris and Liz Retamal who raised in excess of $1000 each.
All contributions big and small are very important to HWA and we are grateful to all of you for making the effort to approach friends, family members and work colleagues to raise funds to help HWA provide services to the HD community.
A big thank you to:
Phyllis Slaney, Steve Andrew, Nola Baeli, Ashlee, Emily and Amy Catchpole, Rensie Matthews, Grainne and Brendan Fancote, Maggie Speirs, Danelle Risk, Cara May, Claire Holt, Clare Kineen, Erin Craze, Thaddaeus Pejakovic ,Melanie Cheah, Harveen Ford, and Abbie Paley. Thank you also to the Chicks n Kicks team members Vanessa Kesby, Cassie Felstead, Chedene Jones and Natalie Hennen.
We hope you enjoyed being part of this event and we encourage all our community members to join us next year. Together we can make a difference!
City to Surf for Activ
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HD FORUM 2013
On the 6th of September, 13 schools throughout WA with a school as far as Esperance attended the Huntington’s Forum. Each school was represented by four Year 10 students and a science teacher. The Huntington’s forum, organised by Huntington’s WA in collaboration with the Western Australian Institute of Medical Research (WAIMR) was held at The Centre for Learning Technology (SPICE) in UWA. Some of the schools also took this opportunity to have a short tour around UWA while observing the beautiful and rustic landscapes of the buildings and the surrounds.
To start off the forum, Ann Jones, the Chairperson of Huntington’s WA and President of the International H u n t i n g t o n ’ s D i s e a s e A s s o c i a t i o n addressed the students and teachers with
her presentation about “Living with Huntington’s”. The audience was given a general idea of Huntington’s disease and the science behind Huntington’s from Ann’s story.
The next session was a panel discussion “Living and working with Huntington’s” which was facilitated by Pauline Charman, the Education Outreach officer from WAIMR. The members of the panel were David Jeppesen, Ann Jones, Dr Tracey Jones, Erin Craze and Fran McGrath who each gave their insight and experience of their own or a loved one affected by Huntington’s. The members of the panel also answered a few questions from the audience about Huntington’s disease.
After morning tea, students participated in the WAIMR BioDiscovery Lab Practical Session, “Diagnosing Huntington’s-the genetic test” which was facilitated by Pauline Charman and Ellen Fortini, a PhD student from WAIMR. In this interactive session students had to play the role of a genetic consultant to perform a diagnostic test used in the diagnosis of Huntington’s disease.
The teachers had a separate session to update their knowledge about the genetics of Huntington’s and getting to know about the latest research. This session was facilitated by A s s o c i a t e Professor Mel Ziman from the School of Medical Sciences at Edith Cowan University.
For the group discussion session, two students from each school had to team up with two students from another school and teachers were asked to be in a different group from their own students. This was an interactive session about “Making hard decisions – ethics, values and dilemmas” and was facilitated by Margaret Gibson, former Head of Health/Physical Education at Perth Modern School. The session involved students and teachers discussing and brainstorming about different scenarios they were given and sharing their ideas with other groups.
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From the evaluations I have conducted, the Huntington’s Forum was very successful and both students and teachers have learnt a lot about Huntington’s disease that they did not know before. There were many positive comments received from students and teachers about the Huntington’s Forum. Some of the comments were:
“I really enjoyed the perspectives from the
people living with Huntington’s. Very
inspiring.”
Huntington’s Disease is and how serious it
is”
Overall, the students and teachers enjoyed the Huntington’s Forum and their knowledge and awareness of Huntington’s disease has increased. It was an interactive day filled with activities, inspirations and discussions.
A huge thank you to Pauline from WAIMR, HBF, Margaret Gibson and Denise Wellington for making this day possible.
Melanie
INTRODUCING
MELANIE
I am Melanie Cheah and I am currently studying a Masters o f S c i e n c e Communication in UWA. As a part of my Masters degree, I am doing my practicum with Huntington’s WA and my practicum involves conducting an evaluation of the Huntington’s Forum.
Tracey a study of determination
Article reproduced courtesy of Western Suburbs Weekly Tuesday September 10, 2013 BY ROSANNA CANDLER
SKYDIVING, bungy jumping and riding a motorbike around Australia were incredible achievements for adrenalin junkie Tracey Jones but completing her PhD was the greatest feeling of all.
In 2006, Ms Jones was studying part
time for her D o c to ra t e o f Education when she was diagnosed
with Huntington’s disease.
As Huntington’s disease is a degenerative neurological condition affecting the brain and nervous system, the Claremont resident (47) said there were many times over the past six years when she almost gave up.
“As well as it being very difficult for me to type, I have trouble with my memory and forget certain words, which is very frustrating,” she said. “With that in mind, it does feel like I have achieved this against all the odds.”
“I’m very driven, so when I say I’m going to do something, I usually make sure I do it. Now that it’s finished and sitting here on the table, it was worth every second.”
Ms Jones’ dissertation titled FLOTE-ing and Sinking: Teacher Participation in Online Professional Development was last month awarded the Postgraduate Researcher Award from the WA Institute for Educational Research at Murdoch University.
At her graduation last September, she also received the School of Education Prize for the best Doctorate of Education dissertation in the past two years.
“When I was first diagnosed, I created this mantra of making the most of every minute, so I started working my way through a list of crazy things,” she said.
“After a while I decided that it was actually better if you do one big thing a month instead of cramming it in. It’s my way of staying positive and moving forward.”
She said receiving the award was August’s “big thing” and this month she and her family were going to Rio for the Huntington’s Disease World Congress from September 15- 18.
Dr Tracey Jones with her Western Australian
Institute for Educational Research award.
Picture: Marcus Whisson d405956
Huntington’s Disease patients?
Proper contraction of muscles is crucial for coordination; errors in this process might help explain movements in HD By Dr Kurt Jensen on September 06, 2013 Edited by Dr Jeff Carroll A proper balance of electrically charged particles is required for muscle cells to respond appropriately to stimuli. However, a recent report by a group of scientists from California State Polytechnic University concludes that disruption of this balance occurs in Huntington’s disease – causing HD mouse muscle fibers to contract more easily than they should.
A great movement Every caregiver is familiar with the Unholy Trinity of Huntington’s disease symptoms: chorea, cognitive loss, and behavioral disturbances. In fact, despite the fact that the other symptoms frequently arise first in the patient, the involuntary physical movements are still used to this day as the key HD diagnostic marker for physicians. Notably, the movements are observed as being extremely uncoordinated: the patient has a muscle begin to move involuntarily, but the muscle does not complete this movement, suggesting that the muscle fibers themselves are not properly coordinating with each other.
Unfortunately, the origin of the involuntary movements may be more mysterious than the other symptoms. Even though every cell of the body expresses the abnormal protein that causes Huntington’s disease, brain cells seem to preferentially die in the course of disease. In fact, in the brain certain populations of cells die first, before the cell loss becomes more widespread throughout the entire brain. Because brain cells die in HD, it’s classified as a ‘neurodegenerative’ disorder.
Ions, ions, everywhere Until recently, it has been assumed that all Huntington’s disease symptoms could be tracked back to problems in the brain. A team led by Dr. Andrew Voss at California State Polytechnic University questioned this assumption and decided to explore the properties of the muscle fibers themselves. When a signal for the muscle to contract (move) comes from the brain, it must be transmitted correctly by a
RESEARCH
nerve to a muscle fiber, which actually executes this order. Dr. Voss’ team focused on the reception of this signal at the end of the ‘telegraph cable’, not the origin of the signal in the brain.
Certain cells of the body, such as brain cells and muscle cells, are ‘electrically active’. This means that they change their electrical charge in order to send signals to one another. But, unlike traditional electronic devices, muscles and nerves don’t have copper wires down which they can transmit electrical charges. So how do they do it?
They do it by moving tiny bits of matter, atoms, that have an electrical charge in and out of the cell. (Any atom with an electrical charge is called an ion.) The atoms of some elements, like sodium and chloride, have a tendency to become easily charged. In fact, regular table salt is comprised of nothing but positively charged sodium ions sticking to negatively charged chloride ions!
Before a message from the brain arrives at a muscle fiber, the cells that make up that fiber are in a primed state, ready to receive that signal. Positively charged sodium is built up outside the cell, but prevented from entering, and positively charged potassium ions are built up inside the cell, but prevented from leaving.
When the message to contract arrives, it opens tiny holes in the cell that let only positively- charged sodium through, which then rush into the cell. Then, to compensate for this change in the charge in the cell, positively-charged potassium ions leave the cell through their own specific channels.
This complicated series of events that starts every muscle contraction is called an action potential. Eventually, the original electrical balance will be restored (negatively-charged chloride ions help this process along) and the cell will be ready to receive another signal. Given what is involved in normal muscle contraction, the authors of this recent study explored whether this machinery functions normally in HD.
To do this, they utilized a mouse model of Huntington’s disease that contains a piece (the most important one) of the human HD gene that contains the mutation that causes HD in people. This model was chosen because it is very well-characterized (it has been around for almost twenty years!) and for its movement and cognitive abnormalities. The research team performed all of their experiments using muscle fibers that were dissected from the mice, which were then subjected to various electric stimuli (shocks). Needless to say, human volunteers are difficult to come by for this one.
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The shocking results The measurements obtained all came from muscle fibers that were hooked up to a pair of tiny electrodes and had various electrical currents passed through them. First, a signal to contract coming from the brain was simulated with a series of electrical pulses.
Muscle fibers from Huntington’s disease mice as well as ‘wild-type’ mice (mice that do not have the mutant human HD gene, and can be thought of as a ‘normal’ control) responded appropriately to the pulse. However, the muscle fibers from the HD mice took much longer to return their electrical charge back to normal after the pulse. This is the part of the action potential where potassium ions are moving out of the cells.
In addition, the strength of the stimulus pulse required to trigger an action potential was much lower in HD fibers, suggesting that they are more easily triggered to contract. Not only that, but in several of the HD fibers, following a pulse that should not have been strong enough to generate an action potential, the fiber contracted anyway.
Muscle fibers from Huntington’s disease mice are clearly much more sensitive to these stimuli (“hyperexcitable”), and the authors speculated that this hyperexcitability would make sense if there were a reduction in the flow of potassium and/or chloride ions in these cells.
Another series of pulses told them that channels in fibers from HD mice have both less electric charge flowing through them over time and that it was less easy for current to pass through them, than channels from normal fibers. The authors conclude that both of the above decreases could be explained by there being simply fewer functional chloride and potassium
channels, so they explored the processes that lead to the physical production of these channels.
The information that specifies the structure of a protein (like an ion channel) is contained initially within the DNA of an organism, but the message goes through a temporary intermediate of RNA before it specifies the protein in question.
When the scientists looked at the muscle fibers of HD mice, they found less of the RNA which specifies the chloride ion channel in HD muscle fibers than in WT fibers, and as well as less of the RNA that specifies the potassium ion channel.
So they were right - the electrical problems they observed in HD muscle fibers were associated with the muscle cells making too few copies of specific channels that help muscles work.
What does this mean for HD? Once you get past all the complicated electrophysiology and molecular genetics, what does this article really mean for the Huntington’s disease community? Well, first off, it makes a very interesting observation: there is a defect not just in the brain but in the muscle fibers that could help explain the involuntary movements of HD.
This interesting possibility needs to be balanced with some important considerations. First, the study was done entirely in a mouse model of the disease. Although a well-established model, there is no guarantee that the same things will be seen in the human disease, which is the only thing that matters in the end.
More importantly, we are a long way off from being able to apply anything here to treat HD. Even if these problems are seen in the human disease, there would still need to be some way of fixing this problem.
Finally, even if these observations are confirmed in humans and an effective therapy can be devised (muscle fibers are easier to target than the brain, at least), they would only be effective against the motor symptoms of the disease. This would have no effect on other symptoms of the disease, like personality and cognitive defects. Of course, every family of caregivers knows that even something that could help with this issue (even in isolation) would be extremely helpful and the unfortunate patient would be less physically impaired and easier to manage.
The bottom line is that currently all medications that treat the motor symptoms of HD have been targeting the brain. This paper shows that the muscles themselves are potential targets, which opens up interesting new avenues for research. Movement drugs that affect the brain notoriously have lots of side effects; HD therapy along lines suggested by this paper could conceivably generate a more targeted treatment.
Potassium, and
single potassium ion,
charging into the
AGENDA
Chairperson’s Report
accounts
Election of the Board
Joy Smith Award
Non members are very welcome to attend but to vote you must be a registered member.
Please RSVP (for catering purposes only). Please note it is possible to attend the meeting even if
you haven’t given a RSVP.
JOY SMITH AWARD
REQUEST FOR NOMINATIONS
In memory of Joy Smith the Award consists of a payment of $250.00 (with no restrictions of use), funded by Huntington’s WA. The award was established by Huntington's WA in 2009 and recognises exceptional service and an overall commitment to Huntington's WA. The main selection criteria are outstanding contribution to the care and support of those with HD. Members of Staff and Board Members are not eligible.
If you would like to nominate someone for this award please contact the office on 9346 7599 or email admin@huntingtonswa.org.au.
The Award will be presented at the AGM on Tuesday 29th October 2013.
SAVE THE DATE
The last quarter of the year is as always a very busy time as the community celebrates the festive season together.
Further details and invitations will be circulated closer to the event however, as our social calendars tend to fill rapidly at this time of the year, the following are dates for your diary: Community Christmas Afternoon Tea Sunday 24th November at the Niche
Travellers Group Christmas Monday evening 25th November
South West Group Christmas Lunch Saturday 7th December
Day Centre Christmas Party Wednesday 11th December
Carers Group Christmas Thursday 19th December
AGM Invitation and Joy Smith Award
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nominating HWA as the recipient of funds
raised from their Free Dress Day. We are
sincerely appreciative of your support.
HDYO T Shirts for our City to Surf
fundraiser were provided at a fraction of
the cost by Aussie Gold promotions. A
special thank you to Lorraine Miners for
organising the shirts. They looked
fabulous!
members, friends and colleagues who
took part in the HD Heroes team for the
City to Surf. Your contribution is
invaluable!
Huntington’s WA and offered to our
younger members of the community.
Tickets were also shared with other
community members of associations based
at the Niche with feedback being very
positive. Thank you to the local businesses
and PCYC who sponsor this event.
Thank You
HDBuzz presents 'Buzzilia!'
The World Congress on Huntington’s Disease is the biggest regular meeting of people affected by Huntington’s disease, family members, friends, carers, scientists and health professionals. This year, for the first time ever, it’s being held in Latin America – in Rio de Janeiro, Brazil.
The HD World Congress is a unique opportunity for the global Huntington’s disease community to come together and for people to learn from each other and share news, progress and excitement.
Of course, not everyone can make it to Rio. So to emphasize the truly global nature of the HD Community, we’ll again be using internet and social media to connect with the hundreds of thousands of HD-affected people around the globe.
Jeff Carroll and Ed Wild will be reporting on the hottest science news from the 2013 World Congress on Huntington’s Disease in Rio de Janeiro, from Sunday 15th to Wednesday 18th September, in a special feature called Buzzilia!
Buzzilia will bring you all the hottest science news from the World Congress, with the HDBuzz ethos: the latest research news - brought to you by scientists - in plain language - for the global HD community. To view the daily posts visit the HD Buzz website at http://en.hdbuzz.net/ or follow HD Buzz on twitter at https://twitter.com/hdbuzzfeed .
DATE TIME VENUE EVENT/GROUP
Tuesday 1st 9.30 am - 3.00 pm Laser tag and Mini golf Wanneroo
Youth Group
Wednesday 2nd 7.30 pm - 9.30 pm Greenwood North Metro Carers Support Group
Monday 14th-Thursday 17th
Thursday 24th 10.00 am - 12.00 pm The Niche Passmore Room
Carers Support Group
Tuesday 29th 5:45 pm - 8.00 pm The Niche Passmore Room
AGM
Sunday 24th 1.30 pm - 4.30 pm The Niche Conference Room
Community Christmas Afternoon Tea
Monday 25th 7.00 pm - 10.00 pm To be advised Traveller’s Christmas
Wednesday 27th 7.30 pm - 9.30 pm Greenwood North Metro Carers Support Group
Thursday 28th 10.00 am - 12.00 pm The Niche Passmore Room
Carers Support Group
December 2013
Wednesday 4th 1.00 pm - 3.00 pm Crown Theatre The Club - South Pacific
Saturday 7th 12.00 pm - 3.00 pm Bunbury South West Christmas
Wednesday 11th 9.30 am - 1.30 pm Beechboro Day Centre Christmas
Thursday 19th 10.00 am - 12.00 pm The Niche Passmore Room
Carers Support Group Christmas
OFFICE CLOSED FOR FESTIVE SEASON
Day Centre
Every Wednesday 9.30 am - 1.30 pm Cnr Amazon And Darwin Crs Beechboro
Beechboro Day Centre