Winter 2013 In Touch - Muscular Dystrophy Association of New ...

For people living with neuromuscular conditions
Mō te hunga whai oranga i te mānuka-uaua
InTouch
Kia Noho Tata // Winter 2013 // Volume 79
‘Tech’nically a Paraequestrian’s dream team
Communications App to benefit MDA
Welcoming the MDA National Council
News, Views ANd Relevant REsearch
IN Touch // Winter And 2013 Much // PAGE more 1 .....

Muscular Dystrophy Association would like to thank the following sponsors and supporters
Also thanks to the Rehabilitation Welfare Trust, CR Stead Trust, The Richdale Charitable Trust and the Douglas
Charitable Trust for their continuing support.

InTouch
Contents
The Official Journal of Muscular Dystrophy Association of NZ Inc. // Kia Noho Tata // Winter 2013 // Volume 79
PO Box 120663, Penrose,
Auckland 1642, New Zealand.
Freephone 0800 800 337
NZ Phone: (09) 815 0247
International prefix (00649)
Fax: (09) 815 7260
Editor: Kimberley Cameron
Email: kimberley@mda.org.nz
Contributions:
We welcome contributions, comments
and letters to the editor. We thank all
contributors to this edition.
Deadline for next issue:
Wednesday 31 July 2013
Subscriptions: In Touch is available free to
people with neuromuscular conditions,
their families, health and education
professionals and other interested people.
Advertising: In Touch welcomes
advertisements concerning products
and services of relevance to people with
disabilities. For a rate card, please contact
the editor.
Printer: Converga
Ph: 09 271 8420
www.converga.co.nz
The opinions and views expressed in this
magazine are not necessarily those of
Muscular Dystrophy Association.
All material in this magazine is copyright.
You must therefore contact the editor for
permission before copying or reproducing
any of it.
Charities Commission Registration:
CC31123
ISSN 1179-2116
Out and about
07 Horse of the Year 2013 - done and dusted
08 Making a difference through enabling communication
09 Setting out on some Muscle Miles
MDA news
12 From the Chief Executive
13 From the Chairperson
14-17 2013 MDA National Councillors in profile
18-19 Highlights from Bow Tie Week
Your condition in review
20-26 Mitochondrial myopathies in brief
24-25 Living with mitochondrial myopathy
- members share their own experiences
Research and relevance
28 Recent developments in treatment
29 Behavioural management in neuromuscular conditions
32 DMD clinical trials show promise
In your words
34 At ease - Ben Robertson
35 Registry update - Miriam Rodrigues
36 GenYine issue - Stacey Christie
37 Legally mindful - Dr Huhana Hickey
COVER IMAGE: Jodie Thorne with ‘Tech’ during their
Horse of the Year winning ride.
PHOTO CREDIT: R Moss of Nzequine
The production of this
magazine is generously
supported by
The Lion Foundation.

Muscular Dystrophy Association
Our Mission
To provide New Zealanders living with neuromuscular conditions personal support and
information, and to advocate, influence and promote equality of opportunity.
Our services include:
•
Membership of our branches and national organisation.
• Specialised information about neuromuscular conditions.
• Information about disability equipment, resources
and services.
CHIEF EXECUTIVE
Chris Higgins
• In Touch magazine delivered to members four times a year.
• Informative website and free 0800 phone number.
• Workshops for people with neuromuscular conditions,
their families, carers, medical professionals and others.
• Advocacy on behalf of members and their families.
NATIONAL SERVICE
LEADER
Claudine Young
ACCOUNTANT/
BUSINESS MANAGER
Tammy Miles
• Opportunities to meet and network with other people
and families affected by the same and other
neuromuscular conditions.
• Referrals to genetic services for genetic testing.
• Support for research projects throughout New Zealand.
MARKETING MANAGER
Deborah Baker
PROGRAMME SERVICE
ADVISOR
Miriam Rodrigues
• Disability and medical support equipment on loan
when available.
• Public promotion and education about neuromuscular
conditions and how they affect people’s lives.
To view a list of neuromuscular conditions
covered by MDA, go to page 38.
Should you have a query regarding a condition
not listed please contact Claudine on
(09) 815 0247, 0800 800 337 or
email Claudine@mda.org.nz
MEMBERSHIP AND
MARKETING ASSISTANT
Kerry Hills
ACCOUNTS
ASSISTANT
Olisia Sparey
in touch // Winter 2013 // PAGE 4
VOLUNTEER
Kate Longmuir

from the editor
I would like to begin this note by thanking all of those who have
contributed to this edition and continue to engage with and enjoy
this publication. It is really a pleasure to communicate with so many
of you and try to bring you ideas, news and views that are of interest
and personal stories that are in many cases inspirational. Secondly,
however, I must apologise to those of you who suggested topics for
stories or sent in content that does not appear in the following pages.
Unfortunately, short of significantly increasing the size of this already
lengthy publication, not all of your contributions could be fitted nor
potential suggestions followed - but we’ll do our best to include them
in editions later in the year. Thank you so much for your efforts.
Following the MDA AGM in Christchurch in April and the election
of new and re-election of incumbent members of the Association’s
National Council, we include in this edition brief introductions to
these elected members of the MDAs governing body. Also included
are profiles of our Young (Rangatahi) Representative and our
regional Branch Representatives. Each of these individuals are highly
committed to the MDA’s development and success and would also
welcome contact from our members about what can be done to
assist you in your areas.
Excitingly in this edition we also announce the intentions of, MDA
Patron and dedicated supporter, Dame Susan Devoy to re-walk the
length of New Zealand for the MDA (page 9) - watch this space
for more details later in the year - and outline some information,
relevant research and personal stories of our members who live
with mitochondrial myopathies (pages 20-26). Also included is a
summary of, neurological and neuromuscular disorder expert,
Lawrence Stern’s presentation at the MDA AGM in Christchurch
recently (page 28). His presentation detailed exciting new
developments in the treatment of neuromuscular conditions and
may be of particular interest to many of our readers.
Kimberley Cameron
kimberley@mda.org.nz
Muscular Dystrophy Association would also like to acknowledge its formal partners:

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Horse of the Year 2013
- done and dusted!
Jodie Thorne and, her horse, Tech have
developed a special bond.
Para-equestrian hopeful, Jodie Thorne, has once again outdone “We rode a 65% test which I was pleased with. Tech felt more
herself with her competing this year so far, winning the trust
active and responsive than the day before so I was pleased our score
and commitment of her spirited horse, Tech, and the Grade One reflected that.”
Para-Equestrian Dressage Championship at the Horse of the Year
“While it was me and Tech in the arena during competitions, our
competition in March.
win was a credit to the fantastic team that supports us. This is truly a
Horse of the Year is Jodie’s favourite show. She says she was team sport and Tech and I couldn’t do what we do without them.”
nervous and sore on arrival at the show grounds – having driven for During Sunday’s musical freestyle test, Jodie says her team came
five hours to the event - but she felt excited about competing with into their own as things did not begin all that well. They went on to
some of New Zealand’s top riders.
ride a good musical freestyle test but, Jodie says, she could not have
“Tech and I had been working really hard and I wanted to end our done so without the trust of her great boy, Tech, and the commitment
season with a bang.”
and care of her support crew.
She was happy about how her horse settled into the grounds – he’d “Just as I was finishing my warm-up ready to start my test, a
only had the shavings down in his pen for 20 minutes and he was helicopter appeared from nowhere and was hovering right above our
led down snoozing and, over the next few days, despite a couple of heads taking photos. It felt like they could reach out and touch my
settling in issues, he really proved his mettle.
head they were so low!“
“We competed at the polo grounds this year which was a first
She says poor Tech had no idea what was going on and she could
for us. Unfortunately the route to the polo grounds went right past feel him shaking.
one of the show jumping arenas, which Tech thought was incredibly “He was genuinely scared (and I was rather worried too if I’m
exciting! He gave Becky a nice little sideways trot past the arenas and honest!). At the same time, the carriage drivers started warming up
was a bit worked up when she arrived at the para-equestrian warm nearby which added lots of scary sights and sounds to the mix, which
up area. Needless to say she had to give him a good warm in to settle Tech found overwhelming. He started jig-jogging and flung his head
him down enough for me which resulted in him not being as active as up in the air, which threw me forward, onto his neck. Poor Becky
Chris Mitchell and, his wife, Susan (also a runner) rest outside their camper ahead of beginning on Chris’ mammoth challenge to run the
I would have liked in our test. It’s a really fine line between having him (Tech’s trainer) was trying to hold onto a dancing Tech with one hand,
length of New Zealand to raise money and awareness for the Muscular Dystrophy Association. INSET: On a training run.
calm enough for me to ride, yet active enough for us to get the good while stopping me from sliding off with the other while Sarita, Lucy
walk marks and we’re still fine-tuning that side of our system!” and Chontelle ran in to catch me. It was really bad timing, as I was
The next day was Saturday and the pair rode their Championship just about to leave the warm up area to go around the arena to start
test. Jodie says for this ride Tech had a lot more fuel in his tank, which my test. Thankfully the judges made the call it wasn’t safe for us to
was great. She says it helped that he wasn’t as excited as the previous start our test at that point, so we rode half an hour later. I was so
day because they gained access to the polo grounds via a different relieved! There was no way I would have been able to ride safely under
gate, which didn’t involve passing the jumping arenas!
those conditions.” They went on to ride a 66% test which, combined
with their other scores, won them the Grade 1
Championship.
One of the highlights for Jodie was the prize
giving in the main dressage oval, where the paraequestrian
champions and reserve champions went
on parade, Jodie says.
“The atmosphere in there was amazing. It was
such an honour to be riding in the hoof-prints of
the top dressage riders in the country. We rode
around the oval twice, with crowds around the
outside cheering us on. It was just such a fantastic
feeling - I had the biggest smile on my face the
entire time we were in there!”
To keep up with Jodie’s news and follow her
on her quest to make the Paralympic team for Rio
2016, visit www.jodiethorne.co.nz.
Jodie Thorne and, her horse, Tech show their form in the ring on show day. PHOTO CREDIT: R Moss of Nzequine
IN Touch // Winter 2013 // PAGE 7

Making a difference through
enabling communication
As a university academic, business-person, mother of a 26 year
old son with muscular dystrophy and now an MDA National Council
member, Sophie Tauwehe Tamati is committed to making a difference
to the lives of others. Her company’s launch in 2012 of an iphone
or android mobile application (App) which won a cash prize in an
international award provided Sophie with an opportunity to help even
more by choosing MDA as the recipient charity of the prize money.
The Hika LITE App was developed as a 21st Century languagelearning
tool for those wanting to learn te reo and won the ‘Diversity’
Award at the Australia-New Zealand Internet Awards (ANZIAs)
following its launch in 2012. Sophie, who is a Co-founder/Director of
Hika Group Ltd, and whose idea it was to develop the Hika LITE App,
was thrilled at the application’s success at the ANZIA’s and equally
thrilled to be able to donate the cash prize to the New Zealand MDA.
The ANZIA judges agreed that the Hika Group translationcommunication
products have potential to migrate to other languages
and are significant for their global use and appeal. The technology that
the Hika LITE application is built on means that it can be used all over
the world, Sophie says. There is large scope and interest in the Hika
technology internationally and she sees this as just the beginning of its
potential use.
“Coming out of a recession, we need to be able to communicate
for humanitarian and economic reasons and the fact that this app
could facilitate better communication also in developing countries,
among other regions, is exciting.”
About the Hika LITE application, Sophie says she feels blessed that
she had come up with the idea some time ago and that Hika Group
Ltd has been able to turn it into something tangible that would help
others to learn te reo Māori and other languages. Another aspect of
this application’s development that was especially rewarding to Sophie
was that it brought together both her English and Māori heritage
“There are many New Zealanders who want to learn te reo Māori
but find getting access to the language is a huge barrier so we created
Chris Higgins with Sophie Tauwehe Tamati, during her visit to the MDA
National Office when she came to discuss her family and business
intentions to contribute to the MDA.
Hika LITE to remove that barrier.”
She is also interested in seeing what opportunities there might be
for Hika Group and the MDA to work together in the future. Sophie’s
son, Richard, lives with muscular dystrophy having been diagnosed
when he was 20.
“We have incredible respect and admiration for other families that
have to cope with MD. This is the beginning for us to continue our
support here and internationally for those with MD.”
Further information about Hika LITE can be found at
http://hikagroup.com/
Use the following link to view Hika LITE and other winners of the
Australia/New Zealand Internet Awards:
http://www.internetawards.org.au/index.php/winners
We have room to spare and are looking for a
like-minded organisation to share our space.
FOR LEASE: a separate designated open-plan office, that can comfortably fit three
workstations and a meeting table, in our recently fitted out fully accessible premises.
The shared facilities also include two accessible toilets, a boardroom, a meeting room and an
open plan lunchroom and kitchen which can double as a training/function room.
BUILDING LOCATION: Penrose, Auckland - with good motorway access and close to public
transport.
For a viewing, please contact Tammy Miles, MDA’s Business Manager, at tammy@mda.org.nz
or phone 09 973 2665.

Dame Susan to set out on some
Muscle Miles
In 1988 MDA Patron and one of its most willing supporters Dame
Susan Devoy walked the length of New Zealand for the Association
and, in doing so, raised $500,000 for those living with neuromuscular
conditions. True to form Dame Susan has pledged to repeat this
endeavour this year, setting her fundraising target far higher this time
– she plans once again to walk from Cape Reinga to Bluff but aims to
raise for the MDA this time an amazing total of $1 million.
Dame Susan will begin her fund and awareness raising walk on
27 October 2013 in Auckland and will cover full marathon distances
each day, winding through both urban and rural New Zealand.
Each day Susan will be joined by a number of local celebrities and
members of the public all supporting Susan on her quest to raise
funds for and the profile of the Muscular Dystrophy Association.
As the walk passes through each centre, events that would
welcome MDA member involvement and that will be focused around
engaging the local communities will be hosted. Over the coming few
months the Muscle Miles team will be looking to firm up plans for
each of these events and would love to hear from all those with ideas
or who are interested in being involved.
The Team
We have a great team of passionate individuals that are helping
put together this ambitious project. If you would like to be involved in
Muscle Miles 2013 please get in touch with one of the team.
Event Manager
Hi everyone,
My name is Hamish and I will be managing the Muscle Miles
walk alongside Kelly and Stacey for 2013. We have had a very busy
few months with preparation for the event, which is to take place at
the end of the year. We are very excited to hear from the members,
branches and all those who wish to be involved and look forward to
making it a memorable event on the MDA’s calender.
By way of background, I spent several years running an event
management company. During this time we produced, organised and
ran a variety of events including: outdoor music festivals, business
conferences, music video releases and contracting with various other
festivals. Currently I am Managing Director for a digital agency that
specialise in social media management/marketing and web/app
development. I hope to use the skills I have acquired alongside our
great team to create a series of exciting, unique events which can raise
both awareness and funds for the Muscular Dystrophy Association.
We will be launching the website shortly, which will allow access
to up to date information on how the event is looking and how you
can get involved.
Regards, Hamish
hamish@musclemiles.org.nz
TOP: During her historical walk, Dame Susan certainly carried more than
her own weight. ABOVE: Presenting the cheque to the MDA in 1988.
Events Facilitator
Hi Guys,
I come from a background that extends from recently running
two successful businesses simultaneously, to event management and
hospitality. My strengths lie in my communication and organisational
skills and at the end of this project my aim would be to leave a
portfolio of events that can be continued on an annual basis by the
Muscular Dystrophy Association, the branches and their members.
I remember the original walk that Dame Susan Devoy completed
25 years ago and feel very privileged to have the opportunity to be
part of this wonderful fundraiser in 2013.
I am very excited to be working with and for the branches here
in the North Island and getting to know the members, their stories
and how together we can all make this 25th Anniversary and Muscle
Miles a huge success.
I look forward to meeting you soon! Stacey
Stacey@musclemiles.org.nz
Events Facilitator
Hi my name is Kelly Barry.
Last year I embarked on a new journey that has led me to
working with the MDA today. I ran a concert in Christchurch to raise
awareness around the issue of fracking. That concert made me realise
a few things about myself; I have an ability to juggle many different
things at once and I’m addicted to organising. I am at my best when
I am giving to others and helping serve humanity. I also believe in the
goodness of people and the difference we can make collectively.
Even after years of organising numerous events while working full
time as a business administrator, the one thing that changed for me
after this event was that I knew I would not be in my current job for
much longer; my heart was definitely somewhere else and so began
my new journey in events. When I saw that the MDA was looking for
a South Island Event facilitator I knew it was the role for me. I see this
event as a wonderful opportunity to raise awareness in New Zealand
about muscular dystrophy.
It will be an absolute pleasure for me to be involved in this project
and I feel very excited about the upcoming months. In time I hope
to meet with and get to know MDA members as we work towards
creating a great event.
Thanks, Kelly
kelly@musclemiles.org.nz

MUSCULAR DYSTROPHY ASSOCIATION
OF NEW ZEALAND INC.
Contact details for the Muscular Dystrophy Association’s branches
NORTHERN BRANCH
Fieldworkers: Kristine Newsome and Darian Smith
Office Manager: Denise Ganley
Physical Address:
Postal Address:
Lion Foundation House PO Box 300429
3 William Laurie Place Albany
Albany North Shore City 7052
North Shore City
Phone: 09 415 5682 or 0800 636 787
Email: support@mdn.org.nz
SOUTHERN BRANCH
Mary Burn
Raewyn Hodgson
Postal Address: Postal Address:
151 Stobo Street 7 Lynas Street
Grasmere Outram 9019
Invercargill 9810 Phone: 03 486 2066
Phone: 03 215 7781 Email: raewyn.hodgson@xtra.
or 03 218 3975 co.nz
WELLINGTON BRANCH
Fieldworker: Dympna Mulroy
Office Manager: Margaret Stoddart
Physical Address:
Postal Address:
49 Fitzherbert Street PO Box 33037
Petone
Petone
Lower Hutt 5012 Lower Hutt 5012
Phone: 04 5896626 or 0800 886626
Email: office.mdawgtn@xtra.co.nz
CANTERBURY BRANCH
Fieldworkers: Paul Graham and Donna Mason
Office Manager: Eris Le Compte
Physical Address:
Postal Address:
314 Worcester Street, PO Box 80025
Linwood,
Riccarton
Christchurch 8247 Christchurch 8440
Phone: 03 377 8010 or 0800 463 222
Email: mdacanty@xtra.co.nz
If you want issues brought to National Council
meetings, talk to your branch representative. They have the
responsibility to raise your issues at National Council meetings
and to make sure you are heard. Your branch representatives
and their contact details are as follows:
Northern branch
Trevor Jenkin
Ph 021 267 4380
Email Trevor.jenkin@gmail.com
Wellington branch
Liz Mills
Ph 04 566 9557
Email stuartcmills@xtra.co.nz
Southern branch
Raewyn Hodgson
Ph 03 486 2066
Email raewyn.hodgson@xtra.co.nz
Canterbury branch
Vivienne Palmer
Ph 021 571 258
Email: vivienne.palmer@clear.net.nz
in touch // Winter 2013 // PAGE 10

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IN Touch // Winter 2013 // PAGE 11

From the Chief Executive
MDA news
Greetings and kia ora koutou
MDA Chief Executive,
Chris Higgins
The Annual General Meeting (AGM) of an incorporated society deserves to
be regarded as a significant event. Typically in New Zealand incorporated
societies are run throughout the year by governing boards or executive
committees on behalf of and as elected by the societies’ members. The AGM
provides an annual opportunity for Societies’ members themselves to directly
influence policy and decision making. It is also an opportunity for them to
hold their governing boards and executive committees, together with their
executive staff, accountable for their stewardship of resources, past actions
and future intentions.
The Muscular Dystrophy Association (MDA)’s
AGM on 19th April was therefore an important
event. It was an opportunity for me as Chief
Executive and Helen Melrose as National
Council Chairperson to be accountable to the
MDA’s members through the presentation of
our reports, and for the National Council to
demonstrate its stewardship of the Association’s
resources through the presentation of
its audited annual accounts. These three
documents collectively comprise the MDA’s
2012 Annual Report which is available as a hard
copy on request or through the MDA’s website.
A big thank you therefore to all members who
came along to the AGM, read and listened to
the reports and asked questions.
The AGM also confirmed those elected
to serve as office holders and I wish to
congratulate Lindsay McGregor, Heather
Browning, Sophie Tamati, Gill Goodwin and
Derek Woodward on their appointments
and reappointments. Congratulations also to
Raewyn Hodgson, Vivienne Palmer, Liz Mills
and Trevor Jenkin who have been appointed by
their Branch executive committees as National
Council Branch representatives. I look forward
to working with you all, together with other
members Stacey Christie, Roger Loveless and
Andrea McMillan.
In his first In Touch column as Chairperson
Lindsay has commented on the importance of
the MDA’s fieldworker service and that it should
be funded by government as a core service,
rather than by the MDA. The MDA’s equivalent
UK organisation, the Muscular Dystrophy
Campaign (MDC), has been successful in having
its MDC funded fieldwork service funded by the
UK health service, and we hope to emulate this
here in New Zealand.
However it is likely to be very challenging
in the current fiscally tight environment where
the government is reluctant to spend money
on new initiatives, and where any discretionary
funds tagged for disability support services are
being allocated to the Ministry of Health’s new
model for supporting people with disabilities.
This notably includes the development of
“local area coordination” (LAC) services
which are being piloted in the Bay of Plenty.
Furthermore, the government funding that we
currently receive to support the provision of
information services appears to be regarded as
“discretionary” and is therefore at risk.
The proposed LAC service bears a
resemblance to the MDA’s fieldworker services
in that it is intended to:
• promote positive values towards, and
expectations of, disabled people, and focus on
the question “what’s a good life for you?”;
• help disabled people and their
families and whānau to explore how to live a
good life through offering general information
and someone to talk to about living with a
disability;
• provide access to tailored information
and may facilitate access to small amounts of
funding to address immediate issues;
• help disabled people to build a
community of support through, for example,
making connections with natural supports and
the local community; and
• support communities to be inclusive
and help people to access government services
(including specialised disability supports)
However, what the LAC service will not be
able to do is provide specialist knowledge of
neuromuscular conditions either to people living
with these conditions or their health and other
support professionals. We believe that this is
crucial to ensuring that MDA members and
others with a condition can “live a good life” and
that its absence from the LAC model means that
it is fundamentally flawed. We further believe
that funds allocated to support LAC would be
used much more effectively if they were instead
allocated to the MDA’s (and other disability
support organisations’) fieldwork services, which
already have a proven track record in providing
LAC type services. In other words why reinvent
the wheel?
Our challenge is to convince the health
bosses and policy makers, together with
those evaluating the Bay of Plenty pilot, of the
merits of our case. We intend to make this a
priority over the next few months. Any MDA
members or readers who have comments as
to how we might get maximum traction with
this important issue are welcome to contact
me. A more detailed paper on this issue was
considered by the National Council at its
February 2013 meeting and is available to MDA
members on request or by visiting the members
only section of the MDA website.
E noho ra
Chris Higgins
Chief Executive
in touch // Winter 2013 // PAGE 12

From the Chairperson
MDA news
Hi Everyone.
At the recent Annual General Meeting in Christchurch I took over as
Chairperson from Helen Melrose.
I have been on the National Council for around fifteen years initially as
Treasurer and more recently as Vice-Chairperson. I am really looking
forward to taking on this new challenge and I trust that I can help to
continue to develop our organisation.
MDA Chairperson,
Lindsay McGregor
I would firstly like to sincerely thank Helen
for her four years as Chairperson. Helen took
on the role just as we were coming through
a very difficult time and she has worked very
hard to re-build MDA into what is now a very
stable organisation providing many services to
our members.
At the AGM we welcomed two new people
who are joining the National Council, Gill
Goodwin and Sophie Tamati. It’s great to have
new people and I know both Gill and Sophie
will bring plenty of enthusiasm and skills to
their roles.
The existing National Council members
who are continuing are Heather Browning
(Vice-Chairperson), Roger Loveless, Derek
Woodward, Andrea McMillan and Stacey
Christie (Young (Rangatahi) Representative).
We also have our Branch Representatives,
Raewyn Hodgson (Southern Regions),
Vivienne Palmer (Canterbury), Liz Mills
(Wellington) and Trevor Jenkin (Northern).
Branch Representatives are appointed by their
respective Branches and will be confirmed
following their Annual General Meeting’s.
Following the AGM we enjoyed
presentations from three guest speakers, Dr.
Larry Stern (Professor of Neurology, University
of Arizona), Hannah Kirsten (PhD student
and recipient of the inaugural Neuromuscular
Research Foundation Trust scholarship)
and Bridget Williams (Canterbury Student
Volunteer Army).
Larry’s presentation highlighted the very
exciting advances in treatments for some
conditions. (More details can be found in the
Research and Relevance section of this edition).
Hannah gave us some details of her work
into myotonic dystrophy which reinforced
the benefits of being able to provide funding
through our Research Trust.
Lastly Bridget gave a very enthusiastic
presentation of the work of the Student
Army in Christchurch formed following the
earthquake. They are keen to assist us and
I am sure the Canterbury Branch will take
advantage of this.
At the Council meeting the following day,
I asked everyone to introduce themselves and
to tell us some personal background including
life and work experience, what motivates
them to give up their valuable personal time
to serve on the National Council, and what
skills and attributes they can offer to our
functioning and effectiveness.
Everyone was very open about themselves
and members can be confident that the new
National Council is a group of very dedicated
and passionate people who have a wide range
of skills and experiences to continue to develop
the MDA.
Last year the 2020 Vision Strategic Plan
was developed after receiving extensive
feedback from members. The key priorities for
the next three years are Income generation,
campaigning, empowerment, reach and
business excellence.
The Annual Operating Plan for this year
includes work in each of these areas but a key
focus is continuing to develop our income base.
It is clear that our current methods of funding
are under pressure, particularly telemarketing
and grants. Last year we generated similar
income to the previous year from telemarketing
but at a higher cost.
We have now implemented closer liaison
with our telemarketing provider and it is
pleasing to see that for the first quarter of this
year we are “back on track.”
We have also appointed a new Grants
Coordinator to replace the organisation we
used last year in order to provide a better
management of this important function.
However, the Council are keen to move
away from our reliance on telemarketing
income. We believe that it is unreasonable
for us to provide our own funding for the
fieldworker service which we know is very
important to members. In a fully inclusive
society everyone is entitled to appropriate
access to health services and this should
be core government policy. So we will
put considerable effort into lobbying for
government funding for the fieldworker service
to ensure our members needs are met and free
up our own funding for other services.
As I said earlier, I am excited (but with some
trepidation) to take on the role of Chairperson
and will do my best to ensure we have a strong
and valuable organisation for our members.
Best wishes
Lindsay McGregor
Chairperson
IN Touch // Winter 2013 // PAGE 13

MDA Chairperson
Lindsay McGregor
I live in Howick, Auckland, with my wife Sheryl, and I have two
adult children; Sarah who lives in Melbourne with her husband and a
10 month old boy, Marlon; and Cameron who currently lives with us
with his partner – they are both heading off for an extended OE in a
couple of months.
I have Becker’s muscular dystrophy which was diagnosed when
I was 18. I was walking until four years ago and am using a manual
chair but am transitioning to a powerchair.
I trained as a Chartered Accountant and have worked for a variety
of accounting and commercial businesses since leaving school in
1971. I currently work for Weston Milling (one of two large flour
manufacturers in New Zealand) where I was Financial Controller for
10 years before being appointed CEO in 2008.
I have recently semi-retired, but am still with Weston Milling doing
financial and systems project work mainly for our Australian business.
I love travelling having done my OE in the late 70’s – six months
in a Combi van in Europe, followed by a year working in London
and then travel through Scandinavia and Eastern Europe including
in Russia, before returning home through Asia. I have also been
fortunate to have travelled extensively for business, mainly Australia
but also the USA, and Asia.
My interest in sailing has led to competing at regattas in New
Zealand and also Adelaide, Nova Scotia (Canada) and last year in
the Access Class World Champs in Sydney. A member of Sailability
Auckland for eight years – we aim to get on the water every week
right through the year.
I also enjoy gliding; the Auckland Gliding Club have recently set-up
a glider with hand-controls and have a people hoist. I have had one
flight and will be doing more.
I have been on the MDA National Council since 1997. I was
Treasurer for 10 years and then Vice-Chairperson before taking over
as Chairperson at our AGM in April.
I believe that all disabled people should have the same access to
education, health-care, work and social opportunites as non-disabled
people and not be marginalised as often happens.
It is and should continue to be a significant focus of MDA to
lobby government and other agencies to continue to improve our
opportunities.
A key focus of MDA through each branch is providing the fieldworker
service. This is very expensive and relies mainly on charitable
grants which each Branch works hard to continue to obtain. I believe
this service should be provided by DHB’s and the MDA will continue
to push for this.
MDA Vice Chairperson
Heather Browning
I am the General Manager of Enable New Zealand, one of the
largest disability support providers in New Zealand. I have a wide
understanding of the disability sector and a long association with
disability support services, both as a funder and provider, through
which I have developed a depth and breadth of knowledge, insight
and experience. I originally trained as a physiotherapist, and over
the past 20 years in New Zealand I have worked with the Muscular
Dystrophy Association - as a physiotherapist, then as the Director and
then in policy and contracting settings with both the former Health
Funding Authority and the Ministry of Health and now with Enable
New Zealand. My background gives me a sound understanding of
the drivers for the disability sector and the need to deliver quality and
accessible services to disabled people.
I have been a National Council member for four years and have
a strong commitment to ensuring the MDA can move forward and
continue to diversify. We have the opportunity to grow and develop
as we respond to members needs for support in the ever changing
environment of the disability sector.
in touch // Winter 2013 // PAGE 14

Gill Goodwin
I am excited by the opportunity to serve on the National Council
of the MDA. I am currently a partner in the law firm of Burke
Melrose, which specialises in elder law. I have advised boards of
directors on governance, directors’ duties and compliance issues
(including in connection with privacy
and discrimination issues). I am also on
the panel of the Human Rights Review
Tribunal.
Gill Goodwin
Roger Loveless
Since my election to Council in 2008, the MDA has identified
that some 4000 people in New Zealand suffer from a neuromuscular
condition, yet our membership only touches about 25% of these
people. I see providing the best possible support to all of these
people as the Association’s core mission. The present government
professes to support all people with disabilities both effectively
and efficiently so that sufferers are both valued in society and can
achieve their full potential. The challenge for the Association is to
build partnerships with government and other health service nongovernment
organisations to make this happen.
I joined the Association shortly after being diagnosed with
Becker MD in 1990. This will be my sixth year on Council. While
2009 marked the end of my career as a professional electric
power engineer, the last 12 years as managing director of a small
engineering consultancy I founded, I still remain active in the
community as an Access Coordinator for CCS Disability Action
Waikato, placing the needs to remove barriers to full participation
Sophie Tauwehe Tamati
I am the inventor of the Hika Rapid Language Learning System
and Co-founder/Director of Hika Group Ltd.
With tribal affiliations that include Waikato, Ngāti Maniapoto,
Ngāi Tuhoe and Ngāti Tuwharetoa, I also acknowledge my English,
Irish and French settler ancestry.
As a Senior Lecturer at The University of Auckland, Faculty of
Education in the School of Te Puna Wānanga, I have lectured in the
Māori medium pathway since 1998 and held a range of positions
of responsibility in the Education Sector including that of Primary
School Principal and Ministry of Education Consultant delivering
Māori language professional development programmes to Māori
medium teachers.
Among my qualifications, I hold a Bachelor of Education,
Postgraduate Diploma in Interpreting and Translating Māori and
a Master of Education degree from The University of Auckland. I
am presently completing my PhD at The University of Auckland in
by the disabled community in front
of society and more specifically local,
regional and national government. In
this role we recently won some funding
from the Ministry of Social Development
Making a Difference fund to develop
a recognised and statistically robust
methodology to measure the numbers
Roger Loveless
of disabled people in the community,
which can be compared with expected
numbers to determine levels of exclusion. Hamilton also has an
advisory group known as the Council of Elders comprising those over
60, of which I was elected vice chairman in December 2012.
I am married to Mary, have two grown up, and happily married
sons, two grandchildren in the UK, and two in Rotorua.
 I really
appreciate the support of the MDA, and would encourage all people
with a neuromuscular condition to play an active, if not physical, role
in society within, and occasionally outside, their comfort zone!
Education and Applied Linguistics with
my research strengths including Māori
Medium Education; Applied Linguistics;
Second Language Acquisition and
Bilingual Education.
As a wife, mother and grandmother,
I have focused my efforts on ensuring
that te reo Māori is passed on as a Sophie Tauwehe Tamati
linguistic legacy to my children and
mokopuna (grandchildren). As an inventor and Māori entrepreneur
in the technology ecosystem, I have been influential in creating
a technology that other indigenous peoples can use to save their
languages. As a professional, I am well educated and articulate in
both Māori and English. And finally as a Māori woman, I hope that
my story will inspire other Māori women to be role models, leaders
and visionaries for the next generations.
IN Touch // Winter 2013 // PAGE 15

Andrea McMillian
I grew up near Greymouth on the West Coast, and have lived in
Gore for the past 20 years. I have worked as a Practice Nurse for 21
years and have three children, Ben (14), Olivia (13) and Zac (11). My
eldest was diagnosed with Friedreich ataxia when he was age 11.
My interests and goals are ensuring that people with health
challenges are put in touch with the services required to help/
support their condition, ie removing and/or addressing the barriers
at grass roots level.
Having a child with a disability and also working in the health
sector gives you a view on both sides
of the fence. I have experienced the
frustration of how simple things can
be made harder, unnecessarily.
I think it’s important for health
providers to be aware of what the
barriers are, as often they don’t.
The above challenges are highlighted
more so in rural areas.
Andrea McMillan
Derek Woodward
I am 66 yrs old and am married to Claire for 45yrs this October.
I have two sons, both living in Brisbane. Craig (39) is a geologist
who is doing research in the field of limno paleology, he also
enjoys his lecturing, and Mark (41) who is an assistant manager in
a large electronics store. He is also a computer whiz and regularly
saves me or my computer from a meltdown whilst he is sitting in
his study in Brisbane.
I, like all of my siblings, have PROMM, which is a form of myotonic
muscular dystrophy
My work history has largely involved sales in the photographic
industry. I have been a part owner of three photographic shops in
Dunedin and a bookshop, Postshop and Lotto shop in Christchurch.
I also spent 25 Years as a volunteer ambulance officer and head of
the Mosgiel division of St John, until my disability brought that to an
end.
I have, all of my life had a desire to help others in the community,
as in my ambulance service. I also spent five years training those who
had not achieved well in schools, or those who had lost their job, with
Trevor Jenkin
Northern Branch representative
My name is Trevor Jenkin, I am the father of a 14 year old boy with
Duchenne muscular dystrophy, I am married to Joy and we own our
own successful business.
We as a family have been associated with the Muscular Dystrophy
Association for the past 12 years and with Muscular Dystrophy
Northern since its formation.
I was elected to the position of Vice Chairperson of MDN in 2011
and again in 2012, and at the recent MDN AGM on the 28th April
2013 was elected Chairperson and Northern Branch rep on the
National Coucil. I am also the President of the Auckland Powerchair
Football Club which promotes and runs powerchair football games
in the Auckland area. I have been very active within MDN helping
organise and attending family camps, Christmas parties and many
other events, as well as the normal committee stuff. This gives me the
opportunity to get out there and meet other members, talk to them
and understand their views and expectations of MDN. I also like to be
actively involved in supporting MDN’s many sponsors and funders in
their events to show we as a membership do appreciate all they do for
the necessary skill to succeed in a sales
career. I also taught older school children
who had some learning difficulties
I am motivated to serve on the
National Council, and on my area
committee to put something back
into the organisation that has not only
assisted me, but many others in the Derek Woodward
community. I have served on the National Council now for just over
a year.
I feel that the skills that were derived from many years of owning
and operating several Businesses, also translate to making me an
excellent Council member. I am a good people person and I feel I am a
creative thinker and a good family man with a lively sense of humour.
I have actively contributed to the team of people that comprises
the National Council and I will continue to do so, to ensure MDA
is financially strong, and continues to grow, so it is still able to
offer support to as many in the community as possible that have a
neuromuscular condition.
us. I also get around to as many expos
and other disability sector events as I can
to show a presence as I think awareness
is another important part.
I wish to continue to do all of
the above now as Chairperson and
encourage any members to contact me
if they want to get a message to the
Trevor Jenkin
committee or even to our National Council. I am only too happy
to help and please if there is something we are not doing right tell
me, I need to know so we can at least try and put it right. In saying
that I also like to hear things we are doing or have done right from
our members.
Within the next year I will be trying to get around and meet as
many members as possible so if you know of an event that a few
members will be at please let me know or let our Office Manager
Denise Ganley know so I can attempt to be there.
All the very best to you all lets make 2013/14 a great year for MDN.
Below are my contacts, please use them.
Trevor.jenkin@gmail.com
PH/TEXT: 021 267 4380
in touch // Winter 2013 // PAGE 16

Stacey Christie
As you probably know by now, my name is Stacey Christie and
I am your Young (Rangatahi) Representative. It is such an honour
to be able to represent the younger members of the Muscular
Dystrophy Association.
It is my hope to connect with MDA’s youth and engage them with
the Association and with each other. I am living in Wellington while I
attend university, studying fashion design. Myself and another young
MDA member are currently organising a youth meet up for members
under 30 in Wellington, so we can connect with each other. So get in
Raewyn Hodgson
Southern Regions Branch representative
I am the mother of two adult children, a daughter, Lisa, and a
son, Rhys. Rhys is now aged twenty nine and has Duchenne muscular
dystrophy. My husband and I are his main caregivers.
I have been a registered nurse for thirty five years and currently
work part-time in the cardiology department at Dunedin Hospital.
I have been involved with the Muscular Dystrophy Association for
twenty years and am a life member of the Southern Region Branch. I
was a branch representative for a number of years during the 1990s.
contact with me if you’d like to be a
part of it!
Over the last few years I have
really enjoyed talking to members
and meeting up with many of you,
so continue to introduce yourselves.
I write an article in each issue of In
Touch, so you can keep up to date
Stacey Christie
with what’s going on with me and find my contact details in there.
Again, thank you for this opportunity to represent you, and feel
free to email me at shchristie@live.com or add me on Facebook.
I have been the Branch Representative
for the National Council, for the
Southern Region Branch since June
2009. I look forward to the challenge
of representing the Southern Region
Branch at the National Council meetings.
I believe I have the skills and broad
knowledge base and experience to
Raewyn Hodgson
provide effective communication/consultation and liaison between
the Southern Region Branch members, the National Council, other
branches and the national office.
Liz Mills
Wellington Branch representative
Since November 2008 I have been the Chairperson and Branch
Rep of MDAW. I have been married to Stu for 23 years and we have
two daughters – Hannah (21) and Georgia. (18). We live in Lower
Hutt. I was diagnosed in 1982 with Friedreichs Ataxia and am now
fully wheelchair dependent. I am fortunate to have always been
surrounded by family and friends who have always given me lots of
support and encouragement and have
got me through the last 31 years. I am
actively involved at branch level and
on the National Council because I am
passionate about the great things MDA
are doing for its members and want to
play a role to see this continue.
Liz Mills
Vivienne Palmer
Canterbury Branch representative
I am the branch representative for MDA Canterbury and have
been on the MDA Canterbury committee for 12 years. In my earlier
years I married a farmer with whom I have four children - two boys
and two girls.
The three youngest were having physical difficulties, as
compared to their peers at school, and all three were subsequently
diagnosed with limb girdle muscular dystrophy (LGMD).
I attended the Christchurch Polytechnic Institute of Technology
and achieved a Bachelor of Nursing Degree in 1997 and have
practiced full time nursing since. I feel that this has further enabled
me to support and advocate for my family.
As a family we have always tried to live as normal a life as
possible but, were always very pleased to receive help and resources
from the MDA and community health
professionals. We feel very privileged
to have been part of the MDA
community and a supportive health
system.
My busy working and family
life caused me to delay elected
commitment until the recent
Vivienne Palmer
opportunity of being a Branch
Representative which is now fulfilling
my aspiration to give back to the
MDA and MDA Canterbury. I am enjoying the contact with the
Association and working with dedicated and fabulous people. The
opportunity is also further enhancing my life experience.
IN Touch // Winter 2013 // PAGE 17

MDA news
Community Forums
PHARMAC is seeking feedback on the
criteria it uses to make decisions about which
pharmaceuticals to make available.
On the pharmac website http://www.
pharmac.health.nz you can find out about
how you can have your say on the decision
criteria consultation, and be part of the
Community Forums during June and July
2013.
MDA is keen to see Pharmac extend its
decision criteria to include pharmaceuticals
for rare disorders, like neuromuscular
conditions, given that people with a rare
disorder have often experienced long
term disability and disadvantage prior to
treatment.
Please contact the MDA or visit the
MDA website if you would like to take a
copy of the 1 page summary of MDA’s view
of what Pharmac’s decision criteria should
look like so that people with neuromuscular
conditions get a fairer go.
Community consultation dates:
Whangarei - Toll Stadium,
13th August 10-12.30pm
Auckland Central - Mt Albert War Memorial
Hall, 25th June 10.45-1pm
Auckland South - Wiri Community Hall,
25th June 2.15-4.30pm
Hamilton - Chartwell Cooperating Church
Hall, 28th June 1-3.30pm
Tauranga - Greerton Community Hall,
9th August 1.30-4pm
New Plymouth - Citizens Advice Bureau,
1st July 1.30-4pm
Wellington - Pataka Art + Museum Porirua,
3rd July 1-3.30pm
Hokitika - All Saints Church Hall,
12th July 1-3.30pm
Christchurch - Canterbury Horticultural
Society, 9th July 10-12.30pm
Dunedin - Otago Museum,
31st July 1-3.30pm
Bow tie week 2013
The MDA was proud to once again be supported by
Judy Bailey for our annual awareness campaign, bow
tie week (16-24 March). Judy appeared alongside
MDA member, nine year old Nicholas Brockelbank,
who has Duchenne muscular dystrophy. Judy was
also the voice of the national radio and appeared on the print campaign
which brought greater awareness to neuromuscular conditions.
The MDA uses the image of a bow tie to demonstrate the difficulties
our members can face doing many everyday tasks. The exclusively
designed bow tie pins were available in WORLD stores, and ASB
branches nationwide for a gold coin donation.
A special thank you to all the amazing members and supporters
nationwide that collected for the branches and made the 2013
campaign happen.
Wellington Branch organises Bow Tie Design Competition
The year 8 students from Samuel
Marsden Collegiate School in Karori,
Wellington held a Design a Bow Tie
competition during Bow Tie Week 2013
which raised $50.70 for the MDA.
Dympna Mulroy, the Wellington
Branch fieldworker, was invited to judge
the designs.
“A lot of skill and effort went into
making each of the bow ties with some
very inventive and creative ideas. The
standard was high and it was difficult to
choose winners.”
The Warehouse Petone very
generously sponsored the first prize
with a $25 gift voucher; “Picture This”,
Petone provided second prize with a
voucher to have a bow tie framed, Village
Beads Petone sponsored third prize with
a $10 gift voucher and fourth prize was
an attractive hard covered notebook.
All participating students received a
small bag of MDA jelly beans.
Dympna gave a presentation to the 50
students in attendance about muscular
dystrophy and how it manifests in our
members. The students had studied
David Hill’s book See Ya Simon which is
MDA Wellington fieldworker, Dympna
Mulroy, with students from Collegiate
School in Karori, Wellington
about a boy with muscular dystrophy.
By using weights and other practical
activities the girls were able to experience
some of the difficulties members
experience in their day to day lives.
The students and their teacher, Sarah
Harvey, provided feedback saying that
the practical sessions and discussions
about muscular dystrophy helped them
to appreciate some of the challenges our
members face within everyday tasks that
they often take for granted.
in touch // Winter 2013 // PAGE 18

MDA news
Waiuku Volunteer Brigade make good on deal
LEFT: Waiuku Volunteer Brigade Chief
Fire Officer, Colin Riddle presents a
$4000 donation for the MDA to MDA
member and Waiuku identity Kevin
Laing following the Waiuku Volunteer
Fire Brigade Poker Run during Bow Tie
Week.
ABOVE INSET: Some of the hotrods
and classic cars that entrants drove in
the Poker Run.
A significant contributor to the MDA’s
Bow Tie Week appeal this year was the
Waiuku Volunteer Fire Brigade, which
donated a cheque for $4000 following a
Poker Run they hosted in Franklin.
The run started with a briefing at the
fire station, where all entrants
were given
their first playing card, making their way
first to Waiau Pa
Fire Station then on to the
Clevedon Hotel, the Ramarama Country Inn,
Tuakau Fire Station and Otaua. Participants
picked up a card at each stop, at the end
holding a hand of six cards. On the return
to Waiuku Fire Station entrants were able to
open their cards (they remained sealed until
the return trip) and could throw away their
worst card. Whoever had the best “Poker
Hand” back at the station won.
Firefighter Mark McDonagh says the
event was a huge success.
“As you can imagine it is a big
undertaking and it took input from all
26
members of the Brigade to put it
together, as well as the awesome support
the businesses of Waiuku always show us.”
“The run was open for anyone to
enter, they didn’t need to have a hot rod
or
motorbike. There were quite a few families
that came along, although it was awesome
to see how many classic cars and bikes came
out for the day.”
Mark says immense thanks are due to
the major sponsors that contributed to
the day - DW Homes (the naming rights
sponsor), Carters, Gary Pyes 100%, Mitre10
Waiuku, Power
and Performance and Vanilla
Homewares.
The event was followed by a prize giving,
dinner (a sheep
on spit) and a live band,
which played into the night.
It was the second time the Waiuku
Brigade has run the event and due to the
success of both times, and the ability for
the funds raised to go to other communitybased
organisations, Mark says, the Brigade
hopes to be able to continue the event on an
annual basis.
As part of Muscular Dystrophy Northern’s Bow Tie Week fundraising activities volunteers and members, including MDA Chief Executive
Chris Higgins ( CENTRE ABOVE) also attended and collected at the HOG National Rally in Ellerslie and hosted a stand at Westfield Albany
(PICTURED RIGHT ABOVE).
IN Touch // Winter 2013 // PAGE 19

Your condition in review
Mitochondrial myopathies
A large group of conditions affecting more than one type of cell, tissue or organ commonly damaging nerve
cells in the brain and muscles.
What are mitochondrial
myopathies?
Mitochondrial diseases are a large
group of diseases caused by damage to the
mitochondria, the small, energy-producing
structures that serve as the cells’ “power
plants”. The more energy an organ needs the
more mitochondria the cells will have.
Nearly all our cells rely on mitochondria
for a steady energy supply, so a mitochondrial
disease can be a multisystem disorder
affecting more than one type of cell, tissue
or organ. Nerve cells in the brain and muscles
both have a high number of mitochondria
and thus appear to particularly damage when
mitochondrial dysfunction occurs. The exact
symptoms aren’t the same for everyone,
because a person with mitochondrial
disease can have a unique mixture of
healthy and defective mitochondria, with a
unique distribution in the body. Also, some
symptoms of mitochondrial disease (such as
diabetes or heart arrhythmia) are common
in the general population, or common
to other neuromuscular diseases (such as
muscle weakness). Usually, a person with
a mitochondrial disease has two or more
of these conditions, some of which occur
together so regularly that they’re grouped
into syndromes.
A mitochondrial disease that causes
prominent muscular problems is called
a mitochondrial myopathy (myo means
muscle, and pathos means disease); while
a mitochondrial disease that causes both
prominent neurological problems is called a
mitochondrial encephalomyopathy (encephalo
refers to the brain).
What are the features of
mitochondrial myopathies?
There are ten well-defined syndromes
classified as mitochondrial myopathies
(see details on page 26.) The symptoms
can include muscle weakness or exercise
intolerance, heart failure or rhythm
disturbances, dementia, movement
disorders, stroke-like episodes, deafness,
blindness, droopy eyelids, limited mobility
of the eyes, vomiting and seizures. The
group of symptoms will depend on the
specific myopathy. The prognosis for these
disorders ranges in severity from progressive
weakness to death. Most mitochondrial
myopathies occur before the age of 20, and
often begin with exercise intolerance or
muscle weakness. During physical activity,
muscles may become easily fatigued or
weak. Muscle cramping is rare, but may
occur. Nausea, headache and breathlessness
are also associated with these disorders.
Muscle weakness and wasting, and
exercise intolerance are common to most
syndromes. However the severity of any
of these symptoms varies greatly from one
person to the next, even in the same family. In
some individuals, weakness is most prominent
in muscles that control movements of the
eyes and eyelids. Two common consequences
are the gradual paralysis of eye movements,
called progressive external ophthalmoplegia
(PEO), and drooping of the upper eyelids,
called ptosis. Often, people automatically
compensate for PEO by moving their heads
to look in different directions, and might
not even notice any visual problems. Ptosis
is potentially more frustrating because it
can impair vision and also cause a listless
expression, but it can be corrected by surgery,
or by using glasses that have a “ptosis crutch”
to lift the upper eyelids. Mitochondrial
myopathies also can cause weakness and
wasting in other muscles of the face and
neck, which can lead to slurred speech and
difficulty with swallowing.
Sometimes people with mitochondrial
myopathies experience loss of muscle
strength in the arms or legs, and might need
braces or a wheelchair to get around. Exercise
intolerance, also called exertional fatigue,
refers to unusual feelings of exhaustion
brought on by physical exertion. The degree
of exercise intolerance varies greatly among
individuals. Some people might only have
trouble with athletic activities like jogging,
while others might experience problems
with everyday activities like walking to the
mailbox or lifting a milk carton. Sometimes,
exercise intolerance is associated with painful
muscle cramps and/or injury induced pain.
The cramps are actually sharp contractions
that may seem to temporarily lock the
muscles, while the injury-induced pain
is caused by a process of acute muscle
breakdown called rhabdomyolysis, leading
to leakage of myoglobin from the muscles
into the urine (myoglobinuria). Cramps or
myoglobinuria usually occur when someone
with exercise intolerance “overdoes it,” and
can happen during the overexertion or several
hours afterward.
What causes mitochondrial
myopathies?
Mitochondrial myopathies are caused
by mutations, or changes, in genes — the
cells’ blueprint for making proteins. Genes
are responsible for building our bodies, and
are passed from parents to children, along
with any mutations or defects they have.
That means that mitochondrial diseases
are inheritable, although they often affect
members of the same family in different ways.
Mutations in either nuclear DNA (nDNA)
or mitochondrial DNA (mtDNA) can cause
in touch // Winter 2013 // PAGE 20

Mitochondrial myopathies
mitochondrial disease.
Most nDNA (along with any mutations
it has) is inherited in a Mendelian pattern,
loosely meaning that one copy of each
gene comes from each parent. Also, most
mitochondrial diseases caused by nDNA
mutations (including Leigh syndrome, MNGIE
and even MDS) are autosomal recessive,
meaning that it takes mutations in both
copies of a gene to cause disease.
Unlike nDNA, mtDNA passes only from
mother to child. Thus, mitochondrial diseases
caused by mtDNA mutations are unique
because they’re inherited in a maternal
pattern. A single cell can contain both mutant
mitochondria and normal mitochondria, and
the balance between the two will determine
the cell’s health Also, when a mutation
occurs in the mtDNA, only some of the
many copies of mtDNA distributed within
the mitochondria of each cell will carry the
mutation - a situation known as heteroplasmy
(see illustration opposite). The ratio of mutant
to normal mtDNA in each tissue, along with
other factors, may determine the severity of
the disease in an individual
Diagnosis of mitochondrial
myopathies
None of the hallmark symptoms of
mitochondrial myopathies— muscle
weakness, exercise intolerance, hearing
impairment, ataxia, seizures, learning
disabilities, cataracts, heart defects,
diabetes and stunted growth — are unique
to mitochondrial disease. However, a
combination of three or more of these
symptoms in one person strongly points to
mitochondrial disease, especially when the
symptoms involve more than one organ
system. To evaluate the extent of these
symptoms, a physician usually begins by
taking the individual’s personal medical
history, and then proceeds with physical and
neurological exams.
Diagnostic tests
Physical examination
The physical exam typically includes
tests of strength and endurance, such as an
exercise test, which can involve activities like
repeatedly making a fist, or climbing up and
down a small flight of stairs. The neurological
exam can include tests of reflexes, vision,
speech and basic cognitive (thinking) skills.
Depending on information found during the
medical history and exams, the physician
might proceed with more specialised tests
that can detect abnormalities in muscles,
brain and other organs.
Muscle biopsy
The most important of these tests is the
muscle biopsy, which involves removing a
small sample of muscle tissue to examine.
When treated with a dye that stains
mitochondria red, muscles affected by
mitochondrial disease often show ragged
red fibres —muscle cells (fibres) that have
excessive mitochondria. Other stains can
IN Touch // Winter 2013 // PAGE 21

Your condition in review
detect the absence of essential mitochondrial
enzymes in the muscle. It’s also possible
to extract mitochondrial proteins from the
muscle and measure their activity.
Scans and electrophysiology testing
In addition to the muscle biopsy, noninvasive
techniques can be used to examine
muscle without taking a tissue sample.
For instance, a technique called muscle
phosphorus magnetic resonance spectroscopy
(MRS) can measure levels of phosphocreatine
and ATP (which are often depleted in muscles
affected by mitochondrial disease). CT scans
and MRI scans can be used to visually inspect
the brain for signs of damage, and surface
electrodes placed on the scalp can be used to
produce a record of the brain’s activity called
an electroencephalogram (EEG).
Similar techniques might be used to
examine the functions of other organs
and tissues in the body. For example, an
electrocardiogram (EKG) can monitor the
heart’s activity, and a blood test can detect
signs of kidney malfunction.
Genetic testing
A genetic test can determine whether
someone has a genetic mutation that causes
mitochondrial disease. Ideally, the test is done
using genetic material extracted from blood
or from a muscle biopsy. It’s important to
realise that, although a positive test result can
confirm diagnosis, a negative test result isn’t
necessarily meaningful.
Special issues in mitochondrial
myopathies
While there is no cure for these
mitochondrial myopathies there are many
treatments that can help manage symptoms
Ataxia and mobility issues
Often, mitochondrial encephalomyopathy
causes ataxia, or trouble with balance and
coordination. People with ataxia are usually
prone to falls. Sometimes, people with
mitochondrial myopathies experience loss of
muscle strength in the arms or legs. These
problems can be partially avoided through
physical and occupational therapy, and the
use of supportive aids such as railings, a
walker, a cane, braces, or — in severe cases —
a wheelchair.
Respiratory care
Sometimes, these diseases can cause
significant weakness in the muscles that
support breathing. A person with mild
respiratory problems might require occasional
respiratory support, such as pressurised air,
while someone with more severe problems
might require permanent support from
a ventilator. Those with mitochondrial
disorders should watch for signs of respiratory
insufficiency (such as shortness of breath or
morning headaches), and have their breathing
checked regularly by a specialist.
Speech and swallowing
Muscle wasting in the neck region can
lead to slurred speech and difficulty with
swallowing. In these instances, speech
therapy or changing the diet to easier-toswallow
foods can be useful.
Cardiac care
Sometimes, mitochondrial diseases
directly affect the heart. In these cases, the
usual cause is an interruption in the rhythmic
beating of the heart, called a conduction
block. Though dangerous, this condition is
treatable with a pacemaker, which stimulates
normal beating of the heart. Cardiac
muscle damage also may occur. People with
mitochondrial disorders may need to have
regular examinations by a cardiologist.
Renal care
Some people with mitochondrial disease
experience serious kidney problems,
gastrointestinal problems and/or diabetes.
Some of these problems are direct effects of
mitochondrial defects in the kidneys, digestive
system or pancreas (in diabetes), and others
are indirect effects of mitochondrial defects in
other tissues.
Special issues in children
Vision: Though PEO and ptosis typically
cause only mild visual impairment in adults,
they’re potentially more harmful in children
with mitochondrial myopathies.
Because the development of the brain
is sensitive to childhood experiences, PEO
or ptosis during childhood can sometimes
cause permanent damage to the brain’s visual
system. For this reason, it’s important for
children with signs of PEO or ptosis to have
their vision checked by a specialist.
Developmental delays: Due to
muscle weakness, brain abnormalities
or a combination of both, children with
mitochondrial diseases may have difficulty
developing certain skills. For example, they
might take an unusually long time to reach
motor milestones such as sitting, crawling
and walking. As they get older, they may
be unable to get around as easily as other
children their age, and may have speech
problems and/or learning disabilities. Children
who are severely affected by these problems
may benefit from services. Occupational
therapy is important for children with
mitochondrial myopathies. Mitochondrial
myopathy can lead to respiratory problems
that require support from a ventilator.
Research
While there is no cure for these
conditions scientists continue to make
significant progress in their quest to fully
understand mitochondrial diseases and
identify the genetic mutations responsible
for these conditions.
Research into stem cells therapy for
affected individuals to restore normal
metabolic conditions and halt damage
to the mitochondria is ongoing as is the
use of dietary supplements. These dietary
supplements based on three natural
substances involved in ATP production in
our cells. Although they don’t work for
everyone, they do appear to help some
people. One substance, creatine, normally
acts as a reserve for ATP by forming a
compound called creatine phosphate. When
a cell’s demand for ATP exceeds the amount
its mitochondria can produce, creatine can
release phosphate (the “P” in ATP) to rapidly
enhance the ATP supply. In fact, creatine
in touch // Winter 2013 // PAGE 22

Mitochondrial myopathies
phosphate (also called phosphocreatine)
typically provides the initial burst of ATP
required for strenuous muscle activity.
Another substance, carnitine, generally
improves the efficiency of ATP production
by helping import certain fuel molecules
into mitochondria, and cleaning up some
of the toxic byproducts of ATP production.
Carnitine is available as an over-the-counter
supplement called L-carnitine.
Finally, coenzyme Q10, or coQ10, is
a component of the electron transport
chain, which uses oxygen to manufacture
ATP. Some mitochondrial diseases
are caused by coQ10 deficiency, and
there’s good evidence that coQ10
supplementation is beneficial in these
cases. Some doctors think that coQ10
supplementation also might alleviate
other mitochondrial diseases. When
considering taking dietary supplements
please consult your doctor first.
Exercise
While the benefits of endurance training
have been demonstrated at a physiological
and biochemical level in mouse models
further studies are needed to evaluate the
best physical exercise regime for people with
mitochondrial myopathies. Strengthening
muscles and improving oxygen intake is
definitely beneficial but over excursion can
have the opposite effect. Any new exercise
regime should be designed in conjunction
with a physiotherapist or professional with
an understanding of mitochondrial disease.
Information for these
articles was primarily sourced
from:
www.mda.org/disease/
mitochondrial-myopathies,
www.mitoresearch.org/
mitodiseases.html, www.
mitoaction.org/medicalinformat
What are
mitochondria and
what do they do?
Mitochondria are tiny structures
called organelles found in every
cell in our body and are similar to
bacteria in many ways. Scientists
believe that millions of years
ago early life forms containing
eukaryotic cells developed a symbiotic
relationship with bacteria. These eukaryotic
cells had a nucleus so could divide and
multiply but because they could not use
oxygen to sustain themselves they died off
once they became too big. The bacteria
with their own DNA could utilise oxygen.
These bacteria eventually evolved into the
mitochondria of human cells allowing for
larger creatures
Within these organelles carbohydrate,
fat and protein is broken down in the
presence of oxygen to create the energy
you need to function, both physically and
mentally. Some cell types like muscles,
liver and brain cells require more energy
so contain a higher percentage of
mitochondria. Hair follicles have a smaller
amount of mitochondria.
Mitochondria produce energy in the
form of adenosine triphosphate (ATP),
which is then transported to the cytoplasm
of a cell for use in numerous cell functions
The process of converting food and oxygen
(fuel) into energy known as oxidative
phosphorylation requires hundreds of
chemical reactions, and each chemical
reaction must run almost perfectly in
order to have a continuous supply of
energy. When one or more components
of these chemical reactions does not run
perfectly, there is an energy crisis, and
the cells cannot function normally. As a
result, the incompletely burned food might
accumulate as poison inside the body.
This poison can stop other chemical
reactions that are important for the cells
to survive, making the energy crisis even
worse. In addition, these poisons can act
as free radicals (reactive substances that
readily form harmful compounds with
other molecules) that can damage the
mitochondria over time, causing damage
that cannot be reversed.
In addition to energy production,
mitochondria play a role in several
other cellular activities. For example,
mitochondria help regulate the selfdestruction
of cells (apoptosis). They
are also necessary for the production of
substances such as cholesterol and heme (a
component of hemoglobin, the molecule
that carries oxygen in the blood).
The central role of mitochondria in
cellular function means that dysfunction of
mitochondria in any organ system can lead
to widely varying clinical presentations.
Primary mitochondrial diseases, which
includes mitochondrial myopathies, are
relatively common and affect up to 1 in
5000 people. Mitochondrial dysfunction
secondary to other diseases is even more
common and plays a role in Alzheimer
disease and Parkinsons disease and is
also involved in the aging process. With
this increasing understanding of the
biochemistry of mitochondrial activity
scientists are now researching a variety of
treatment strategies .
Mitochondrial DNA (mDNA)
Mitochondria like bacteria have their
own set of DNA which is inherited from
one’s mother, not father. This is because
only the egg contains mitochondria,
while sperm cells are mitochondria-free
by the time it fuses with the egg. Thus,
mitochondrial diseases caused by mtDNA
mutations are unique because they’re
inherited in a maternal pattern
....... continued on the following page
IN Touch // Winter 2013 // PAGE 23

Your condition in review
What are mitochondria and what do they
do?....... continued from the previous page.
Looking for contact with others
with mitochondrial myopathy/ IBM
Another unique feature of mtDNA diseases
arises from the fact that a typical human
cell — including the egg cell — contains only
one nucleus but hundreds of mitochondria.
A single cell can contain both mutant
mitochondria and normal mitochondria, and
the balance between the two will determine
the cell’s health. Also, when a mutation
occurs in the mtDNA, only some of the
many copies of mtDNA distributed within
the mitochondria of each cell will carry the
mutation -- a situation known as heteroplasmy
(see illustration below). The ratio of mutant
to normal mtDNA in each tissue, along with
other factors, may determine the severity of
the disease in an individual.
Maternal inheritance of mitochondrial DNA
mutations.
The DNA inside mitochondria is distinct
from DNA inside the nucleus in its genetic
code. Mitochondrial DNA contains 37
genes, all of which are essential for normal
mitochondrial function. Thirteen of these
genes provide instructions for making
enzymes involved in oxidative phosphorylation
(producing energy ). The remaining genes
provide instructions for making molecules
called transfer RNAs (tRNAs) and ribosomal
RNAs (rRNAs), which are chemical cousins
of DNA. These types of RNA help assemble
protein building blocks (amino acids) into
functioning proteins.
Refer graphic on page 24
Toward the end of the 1990’s, I
was having to travel from Masterton to
Wellington each year to visit a neurologist
at Wellington Hospital in the hope of
getting a diagnosis for the weakness that
was becoming more noticeable in my left
hand and arm.
This had made my job as an ambulance
officer rather precarious as I couldn’t lift or
carry a stretcher as I was required to do.
Finally, after the usual neurological tests
and painful EMGs, it was decided I probably
had IBM but a confirmation could only be
achieved with a muscle biopsy. As this was
not going to provide a cure for my problem,
was probably going to hurt quite a bit and
there was no compulsion to go ahead with
it, I said I thought I would give it a miss
thank you very much.
While in hospital in mid - 2006, I was
once again pressured to have the biopsy
to which I relented and it was undertaken
in November. Somewhere along the line,
either the muscle specimen or the report
got sent to the wrong hospital because
it was several months later that we got
the result back. This indicated that I had
some “ragged red fibres” within the
muscle sample which was indicative of
mitochondrial myopathy. That was all very
well but what did all that mean and how
was it going to affect me in the future? It
was suggested that I should be given an
electron microscope test to confirm the
diagnosis but that has never happened.
By checking the web for some detail,
I have found that tiredness is a great
indicator of the condition but as I have little
to no ability to balance while standing, let
alone walking, tiredness has been with me
for some time. Recently, I have noticed a
difference in my ability to sound certain
words and my tongue has taken on a
degree of numbness which makes eating
MDA member and IBM support group
convenor, Don Ross.
just that much more difficult. I now wonder
if the deafness in my left ear may have been
more than just age related. I have profound
numbness in the calves of both legs but this
what I expected to happen with my IBM.
Just weeks ago, my wife Pat was going
through all my old copies of In Touch
and she came across a story by Verina
Kuriger (Autumn 2008) and found it most
interesting in that the symptoms she talks
about are what I am experiencing. Like her,
I have been fortunate to have the attention
of a very good O/T so I have all the aids I
need to stay reasonably mobile in and out
of the home.
I would love to get in touch with anybody
else who has been diagnosed with the
condition. My email is teddy@wise.net.nz
Supplied by Don Ross
in touch // Winter 2013 // PAGE 24

Living with mitochondrial myopathy
Setting an example for the young’uns.
Nine years ago, when I was 64, I had never
heard of MM. I’ve always been an incredibly
busy, fit and active person, with a physically
demanding job and a love of scuba-diving,
sailing and water-skiing. The first sign that all
was not right in my world was when I started
to come home after a hard day’s work and
would collapse in a heap with exhaustion
for a couple of days. I ignored this, putting
it down to just getting that little bit older.
Then I developed droopy eye lids – as in I
couldn’t open my eyes very much. A local
surgeon thought the muscles above my
eyes had detached from the eye lids and,
with a short operation, he would reattach
the muscles. However, when he undertook
the surgery he couldn’t find the muscles at
all, so suggested I contact a specialist who
subsequently inserted ‘straps’ under the
skin of my eyelids and connected them to
my forehead. Now in order to open my eyes
I have to raise my eyebrows. The specialist
suggested I have a muscle biopsy to check if
there was any underlying reason for having no
eyelid muscles. After several visits to Auckland
hospital and several biopsies later I was told I
had MM and that it was reasonable advanced.
MM is when the mitochondrial in your
muscles start dying, and thus your muscles
slowly waste away. It’s rare and few doctors
have ever heard about the condition. Those
that have any experience of it tell me the
prognosis is different for everyone, and that
my life expectancy would be about five years,
with the last few years spent in a wheelchair
and drinking food through a tube. Oh joy!
After getting over the initial shock, my wife
Sue and I starting making some plans – e.g.
if I was in a wheelchair could my wife look
after me or would I need to be in a home? My
wife and I searched the internet to find out
as much as possible about the disease – but
there was little to find. The majority of my
care has been by my GP – he’s been fantastic
and better than any specialist. Between us we
are probably New Zealand’s experts on MM!
Over the last ten years there is still little
new information about MM – I still have no
idea what my prognosis is, but I am yet to be
Peter ABOVE on a
Coastguard flight and
RIGHT with one of his
much loved grandchildren.
confined to a wheelchair. To
eat requires many muscles,
so you can imagine that as
the mitochondria die, eating
is becoming more and
more difficult, and choking is a major risk. I
regularly vomit up many perfectly lovely roast
dinners - going out for dinner therefore can
become a little embarrassing. Speaking also
is difficult – especially when I’m tired. People
just think I’m drunk! You have to laugh at the
craziness of it all really.
I wanted to keep working in order to
kept my mind active and myself sane – and
my wife was incredibly supportive of this
(although we had lots of arguments initially
about it). We spent many years planning how
she would cope when I was gone. However,
three years ago Sue died suddenly. That was
never part of the plan – it never is –it was
meant to be me first, not her. I’m not sure
how I have coped since her death but I have.
Stressful events tend to set off a
downward spiral of weight loss, until I plateau
again for a while. I’ve lost muscle tone and
strength and look like I’m anorexic – despite
eating like a horse. With no body fat my body
struggles to regulate my body temperature
and I get the shivers. I am finding the simple
act of getting up out of a chair and walking
increasingly difficult, but I still run a plumbing
and drainage business plus a marine electrical
business. I’m also the training officer for
the Northland Coastguard Air Patrol and
spend most days driving myself between
KeriKeri and Whangarei. Despite no previous
experience, I’ve become an incredible cook
(famous for my Xmas cake, Afghans and
lemon meringue pie) and still do my own
housework. I have two great sons, five
grandchildren and the best network of friends
you could ever ask for. Together with the
Muscular Dystrophy Association, they all keep
a close eye on me. I also started ticking things
off my bucket list – I’ve done a month long
cruise through the Mediterranean, a skydive
for my 70th birthday, a zipline flying fox while
hanging upside down through the trees in
Canada, and have been front and centre to
watch the start and finish of the Sydney to
Hobart yacht race (because I couldn’t wangle
a place on one of the boats). Whilst my quality
of life has been dramatically affected, I’m still
alive and active, and am reminded of this as I
watch my aging friends pass away from more
common conditions such as heart attacks
and cancer. I’m doing OK for an old bugger.
Life is what you make it after all. You can sit
and wallow in self-pity or you can set a great
example to your grandchildren and show
them that despite your physical limitations
a positive mental attitude and a good laugh
makes all the difference to a good life.
Supplied by Peter Greenaway
IN Touch // Winter 2013 // PAGE 25

Your condition in review
What are the different types of mitochondrial myopathy?
Kearns-Sayre syndrome (KSS)
Onset: Before age 20
Symptoms: This disorder is defined by
PEO and pigmentary retinopathy, a “saltand-pepper”
pigmentation in the retina
that can affect vision, but often leaves it
intact. Other common symptoms include
conduction block (in the heart) and ataxia.
Less typical symptoms are mental retardation
or deterioration, delayed sexual maturation
and short stature.
Leigh syndrome (subacute
necrotising encephalomyopathy)
and maternally inherited Leigh
syndrome (MILS)
Onset: Infancy
Symptoms: Leigh syndrome causes brain
abnormalities that can result in ataxia,
seizures, impaired vision and hearing,
developmental delays and altered control over
breathing. It also causes muscle weakness,
with prominent effects on swallowing, speech
and eye movements.
Mitochondrial DNA depletion
syndrome (MDS)
Onset: Infancy
Symptoms: This disorder typically causes
muscle weakness and/or liver failure,
and more rarely, brain abnormalities.
“Floppiness,” feeding difficulties and
developmental delays are common
symptoms; PEO and seizures are less
common.
symptoms include PEO, general muscle
weakness, exercise intolerance, hearing loss,
diabetes and short stature.
Mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE)
Onset: Usually before age 20
Symptoms: This disorder causes PEO,
ptosis (droopy eyelids), limb weakness and
gastrointestinal (digestive) problems, including
chronic diarrhoea and abdominal pain.
Another common symptom is peripheral
neuropathy (a malfunction of the nerves that
can lead to sensory impairment and muscle
weakness).
Myoclonus epilepsy with ragged
red fibres (MERRF)
Onset: Late childhood to adolescence
Symptoms: The most prominent symptoms
are myoclonus (muscle jerks), seizures, ataxia
and muscle weakness. The disease also can
cause hearing impairment and short stature.
Neuropathy, ataxia and retinitis
pigmentosa (NARP)
Onset: Infancy to adulthood
GRAPHIC: The distinct nature of mitochondria with mutant DNA
Symptoms: NARP causes neuropathy (a
malfunction of the nerves that can lead to
sensory impairment and muscle weakness),
ataxia and retinitis pigmentosa (degeneration
of the retina in the eye, with resulting loss of
vision). It also can cause developmental delay,
seizures and dementia.
Pearson syndrome
Onset: Infancy
Symptoms: This syndrome causes severe
anaemia and malfunction of the pancreas.
Children who survive the disease usually go
on to develop Kearns-Sayre syndrome.
Progressive external
ophthalmoplegia (PEO)
Onset: Usually in adolescence or early
adulthood
Symptoms: PEO — the gradual paralysis
of eye movements — is often a symptom
of mitochondrial disease, but sometimes
it stands out as a distinct syndrome.
It’s frequently associated with exercise
intolerance.
Mitochondrial
encephalomyopathy, lactic
acidosis and strokelike
episodes (MELAS)
Onset: Childhood to early adulthood
Symptoms: MELAS causes recurrent
stroke like episodes in the brain,
migraine-type headaches, vomiting and
seizures, and can lead to permanent
brain damage. Other common

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Research and relevance
Recent developments in the treatment of neuromuscular disorders
Lawrence Z. Stern, M.D. The University
of Arizona Medical Center
April 19, 2013
The following are the key points of
Larry’s presentation at the mini conference in
Christchurch following the MDA’s AGM in April.
Much of the research in this area has
focused on Duchenne muscular dystrophy,
which is caused by a number of different
genetic mutations in the dystrophin gene –
meaning that one gene therapy approach
is not going to be suitable for all boys with
Duchenne. Research into Duchenne muscular
dystrophy is likely to have positive knock-on
effects for research into other neuromuscular
conditions with the knowledge gained from
research in this area benefitting those with
other neuromuscular conditions.
There are three antisense mediated
exon skipping therapies currently in clinical
trial phase. All of these therapies are being
investigated to see whether they can turn
a Duchenne-like presentation in a patient
with Duchenne muscular dystrophy to a
Becker muscular dystrophy-like presentation.
Eteplirsen (Serepta) targets exon 51. Trials
have shown that after one year of treatment,
the 6-minute walking distance increased by
21 metres. At 62 weeks of treatment, benefit
was sustained and treated boys walked 62
metres further than those receiving placebo.
The other two therapies are Drisapersen
(GlaxoSmithKline) and PRO044 (Prosensa), see
the article on page 32 for more information.
Ataluren (PTC Therapeutics) is another
promising therapy for boys with nonsense
mutations. After 48 weeks of treatment, boys
walked 30 metres more in 6 minutes than
those on placebo. Eteplirsen and Ataluren
have now been submitted to the FDA for
evaluation and approval.
While the above therapies try to enhance
the body’s ability to make dystrophin
another approach is to increase the amount
of utrophin, which may be able to act as
a substitute for dystrophin. One drug in
clinical trials, SMTC1100, has been shown to
increase utrophin by 50% in DMD patient
cell lines in the lab. Initial trials have shown
it to be safe and well-tolerated in healthy
volunteers. Clinical trials are beginning in
DMD and BMD patients.
Other conditions where therapies have
shown promising results are myotonic
dystrophy, spinal muscular atrophy (SMA) and
Freidreichs ataxia.
Myotonic dystrophy
An antisense compound ASO44536
(Gapmer) is thought to break up RNA/
protein clumps in nuclei of cultured cells. The
compound attracts enzymes which partially
digest and then destroy abnormal RNA. In a
myotonic dystrophy mouse model it reduced
RNA clumping, reduced muscle shrinkage and
eliminated myotonia. Interestingly the effects
were long-lasting with the benefits lasting for
one year after stopping treatment.
Spinal muscular atrophy (SMA)
In SMA the SMN1 gene is not functioning
correctly. An antisense drug ISIS-SMNRx is
designed to increase the amount of survival
motor neuron
(SMN) production
by using the
“backup” SMN2
genes. This has
Lawrence Z. Stern
been shown to be
safe and tolerated
when injected into spinal fluid of 28 children
with SMA with some improvement in motor
function but more trials are needed to verify
the benefits.
Another experimental drug RG3039
increased SMN protein in SMA cells. So far
it has been shown to preserve mobility and
increase lifespan in animal models of SMA.
Freidreich ataxia
A Phase I clinical trial of histone deacetylase
inhibitor is underway in Italy.
This is the first therapy specifically
developed to treat the underlying cause of FA –
the “turned off” frataxin gene. It has shown to
increase frataxin production in mouse models
by turning the frataxin gene back on, allowing
cells to read genetic instructions.
Also presenting at the conference were,
ophthalmology PhD student and, the first
recipient of the MDA’s NRFT scholarship,
Hannah Kersten and Bridget Williams
from the Student Volunteer Army. Hannah
presented her preliminary findings on the
differences in the epiretinal membranes of
people with myotonic dystrophy while Bridget
explained how her group are mobilising
students to provide support to eathquake
affected Canterbury residents.
OPTIMISTIC focuses on myotonic
dystrophy and involves an international
multicentre intervention. The study, which
was awarded €3million from the European
Commission’s FP7 call in 2012, is coordinated
by Baziel van Engelen from Radbound
University Nijmegen Medical Centre in the
Netherlands and includes seven collaborative
partners from France, Germany, United
Kingdom and the Netherlands.
OPTIMISTIC will investigate the effect of
exercise training and cognitive behavioural
therapy (CBT) on patients with myotonic
dystrophy in order to find new and innovative
ways to improve quality of life; in doing so
protocols and guidelines will be developed
specifically for this complex disease. Over 200
patients will be involved in this project across
Europe and recruitment is expected to start in
2014. In addition OPTIMISTIC will utilise this
opportunity to work towards standardising
cardiac screening procedures and to carry out
genetic analysis to better develop prognosis
tools. Furthermore OPTIMISTIC aims to
develop and validate clinically significant
outcome measures that can be used in future
clinical trials.
The project will be closely linked to the
TREAT-NMD Alliance and, as a member of the
TREAT NMD Alliance, MDA NZ will keep New
Zealanders with myotonic dystrophy informed
about the care guidelines and protocols that
will result from this trial.
in touch // Winter 2013 // PAGE 28

Research and relevance
Behavioural management in
neuromuscular conditions
Research indicates that for many families the behavioural problems that can occur
with a neuromuscular condition (NMC) are more stressful than the medical/
physical aspects. Behaviour is a symptom and should be acknowledged and
managed with appropriate support and treatment. Dr James Poysky, a clinical
psychologist and paediatric neuropsychologist in neuromuscular conditions,
presented at the Riding the Wave neuromuscular conference in 2012 about the
different factors that can cause behaviour problems, professional interventions
available and strategies aimed at compliance and de-escalating conflict situations.
MDA Wellington fieldworker, Dympna Mulroy attended the conference and the
following is her summary of the information presented.
What are behavioural problems?
Behavioural problems may present as:
• Moodiness, low mood, refusal to
cooperate;
• Bad temper, temper tantrums,
screaming, swearing;
• Frustration, throwing objects,
hitting, biting;
• Demanding behaviour, repeated
requests.
All of these behaviours in themselves are
not unusual; it is only when they become
more extreme and/or affect family life that
they become problematic.
Potential causes of behaviour
problems
There may be one or more reasons
that trigger a change in behaviour.
Various psychological, physical and social
factors (such as deteriorating mobility and
dependence on others) will impact on a
persons’ life at different stages in their
journey. This can lead to frustration and
embarrassment, even among the youngest
children and for some these emotions may
be acted out through their behaviour.
• Psychological
Coping with a neuromuscular condition
can cause various amounts of anxiety and
stress. Future aspirations and goals may be
unattainable and one’s sense of purpose
may be altered. Most people learn to adjust
and cope with having a neuromuscular
condition but there will be times when they
feel overwhelmed with emotional distress. As
a condition progresses, children and young
adults become more aware of their capabilities
and limitations in comparison to their peers
which can lead to adjustment problems
especially as a person’s mobility deteriorates.
Feelings of frustration, sadness, anger or
anxiety can be experienced. These are normal
reactions to a stressful situation and are
more likely to be triggered during important
developmental periods or times of change.
• Psychosocial factors
These include family stress or conflict;
peer interactions and teacher/adult
relationships.
Parents want the best for their children
and often have to juggle various roles and
commitments to meet their child’s needs.
At times individuals can feel overwhelmed
dealing with these daily demands and
stresses. In times of stress, managing a
child’s behaviour can be more challenging
if the parents/teachers/carers/whanau
coping abilities and mental capacity are
overwhelmed.
Some teenagers have difficulty
establishing their independence because
they require more care and assistance from
others such as parents. As muscle weakness
progresses, they are at risk of becoming
more isolated or socially withdrawn. Parents
and teachers should look for signs of chronic
sadness, depression or anxiety.
While most individuals are not depressed
or anxious, there is an increased chance when
compared to peers. Depression is different
from normal feelings of sadness, it is more
pervasive, longer lasting (weeks to months
instead of a day here or there) and powerful
(interfering with daily activities, relationships
and goals). Younger children are more likely
to show symptoms of irritability, aggression,
over-sensitivity or physical complaints, and
do not always seem outwardly depressed.
Most children have difficulty describing
their emotions or identifying the cause of
their distress. Depression and anxiety can
be very serious conditions and should be
addressed with appropriate interventions and
professional support.
• Medical factors
Medical treatments, procedures and
assessments will vary from person to person
and can consume their normal routine. This
may impact on their emotions, sense of
purpose and peer connections, and lead to
disruptive behaviour.
Fatigue is a major symptom in
neuromuscular conditions. When a person
is fatigued they find it difficult to reason,

problem solve, comprehend and behave
appropriately which can be manifested in
their behaviour.
Some people with neuromuscular
conditions take steroids or other medications
to help manage their symptoms and some
of these are known to cause behavioural
problems. Prednisone is the steroid most
widely used to treat Duchenne muscular
dystrophy. It slows muscle loss and
dramatically improves strength for most boys.
On the other hand, it can cause irritability and
some psychological side effects, which may
affect a person’s behaviour and academic
performance. Psychological side effects from
steroids include difficulty concentrating,
sleeping and controlling emotions. Some of
these problems may have existed before the
child started taking medications but they
were less severe and noticeable or considered
to be a problem. It is advisable to speak to
the child’s consultant/specialist if you think
medications are having an adverse effect on a
child’s behaviour and emotions.
• Physical
Behaviour can arise in response to a
physical need such as pain and discomfort,
fatigue or hunger.
“Hangry” = Hungry + Angry
It has been shown that when a person is
hungry (even if they don’t feel it) they may
become angry, irrational, mean/ aggressive
and emotionally sensitive/labile. This is due
to lowered blood glucose levels. A return to
happy/normal mood can be seen once their
blood sugar glucose level returns to normal.
• Impact on brain functioning
Some neuromuscular conditions such as
Duchenne muscular dystrophy can lead to
cognitive weakness and neurobehavioral
disorders. While scientists are still
investigating the exact role of dystrophin in
the brain, not having dystrophin seems to
cause an increased risk for specific cognitive
weaknesses and learning difficulties. This
does not mean that all boys with Duchenne
will have deficits in these areas.
Boys with problems in this area will have
difficulty adapting to changes in expectations
or requirements, or in transitioning from one
activity to the next. They can get stuck on
one idea, and have a hard time shifting their
thinking away from it, even when others are
getting annoyed or angry with them. They
may appear stubborn or hard-headed, but it
is important to keep in mind that this reflects
a cognitive weakness rather than a character
flaw. Problems with executive functioning
commonly occur in the presence of ADHD
and autism.
• Other factors
Young people regardless of whether
they have a long term condition can have
difficulty learning behavioural strategies and
applying them to appropriate environments
and situations.
Remember they are a normal child who
happens to have weak muscles!
How to manage behaviour?
There are a number of ways to deal with
behaviour depending on the circumstances.
1. General treatment
recommendations - e.g. Seeking professional
assistance, support networks
2. Behavioural management
techniques to be utilised by the parent/
teacher/whanau
General treatment recommendations
• There are a number of trained
professionals who are able to evaluate
behaviour and provide necessary support:
neuropsychological/psychological;
developmental paediatrics; psychiatric;
social worker. The interventions used are the
same for someone without a neuromuscular
condition; remember the mental health
professional doesn’t need to be an “expert”
in these conditions.
• Psychotherapy treatments include:
Parental behavioural management training;
individual therapy; group therapy; applied
behavioural analysis.
• Social interventions: Talking about
the condition with the child, their peers,
teachers etc. Developing their interests and
supporting them to stay involved in groups
and activities.
• Promoting independence and selfadvocacy
in the young person.
• Family interventions: Counselling,
building support networks, marital support,
involvement in Muscular Dystrophy
Association, siblings support.
• Psychiatric medication: for
moderate to severe problems.
Behavioural management techniques
It is important to identify the reason or
underlying cause that triggered the behaviour.
Addressing the cause can often be the first
step rather than targeting the behaviour.
Part 1. Hangry = Hungry +Anger
Don’t waste time trying to address
behaviour until you get some calories into
them first!
More frequent (healthy) meals and snacks
are advisable.
Part 2. Models of behaviour
The human brain is not fully developed
until around 25 years of age. Part of growing
up is to learn how to understand emotions
and express them appropriately.
• Traditional model of behaviour:
Children engage in negative behaviour
because they learn that they can get what
they want if they act in a certain way.
This behaviour is willful and intentional
(manipulative!). Consistent discipline results
in behaviour change.
• Cognitive Deficit Model of
Behaviour:
Children need to learn specific skills to
manage and express their emotions and
behaviours appropriately. These skills include:
»» Cognitive flexibility;
»» Frustration tolerance and delaying
gratification;
»» Problem solving;
»» Anticipatory consequences;
»» Expressing language;
»» Social skills;
»» Insight
..... report continues on the facing page
This report on Dr Poysky’s presentation will continue in the Spring 2013 edition
of In Touch where information on ‘Where to start’ and some strategies on
managing behaviour will be outlined.
in touch // Winter 2013 // PAGE 30

Problems occur when demands of the
situation exceed the child’s skills in these areas.
The goal is not to punish the negative behaviours
but to teach positive behaviours and the
underlying skill.
Deficits in cognitive skills can affect a person’s
pattern of thinking, behaviour and response
to certain situations. If a child has a weakness
or developmental delay in their cognitive skills
they may not pick up on parent threats and
punishments leading to escalation. As a result
they won’t learn from failure and may have
difficulty making decisions not related to “right
now”. Using punishment in these situations can
escalate their behaviour and this pattern can lead to
feelings of resentment for all involved.
Rather than focus on the end result (behaviour)
and forcing the child to obey it is better to recognise
the underlying cause/weakness and help them to
learn new skills. Focusing on the end result distracts
from the main cause.
Tapping into the underlying skills can help the
child to readjust over time. It will not be instant and
the model needs to be reinforced each time the child
has learnt the necessary skill.
The above images were sourced directly from Dr James Poysky’s conference
presentation.
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IN Touch // Winter 2013 // PAGE 31
you thought you never could…

Five years ago, effective treatment for
DMD seemed an impossible dream, and few
pharmaceutical companies were interested in
investing in therapy for a fairly rare disease.
However, this has all changed, as DMD is
now seen as a model for the development
of treatment on the basis of the specific
mutation or mutations that are present in an
individual (that is, personalised medicine), and
advances in technology have made many of
the problems with therapeutic approaches
more tractable. Many challenges remain,
Research and relevance
Clinical trials suggest great advances in future treatment
of those with Duchenne muscular dystrophy
however, not least for the development
of reliable endpoints for clinical trials. The
problem of delivery to all muscles of the body
will also need to be resolved. However, there
is little doubt that although a cure remains
some way off, treatments are currently
entering trials that have the potential for
providing a significant clinical impact on
the quality of life of people with Duchenne
muscular dysrtophy. In turn, these approaches
are being applied to many other genetic
disorders. The age of genomic medicine is
moving forwards with rapid speed.
Several promising genetic approaches,
including viral delivery of the missing
dystrophin gene, read-through of translation
stop codons, exon skipping to restore the
reading frame and increased expression of the
compensatory utrophin gene are summarised
in the below table, published in Nature
Reviews Genetics June 2013 by Rebecca
Fairclough, Matthew Wood and Kay Davies.
The lessons learned from these approaches
will be applicable to many other disorders.
Drug name Description Company Delivery Route Results to date Current
Stage
Viral gene therapy
Biostrophin
rAAV2.5
CMV minidystrophin
(d3990)
Termination codon read through
Ataluren
Nonsense
suppression
Exon skipping
Eteplirsen (AVI
4568)
GSK2402968
(PRO051);
Drisapersen
PRO044
PMO
morpholino
targeting exon
51
2′OMePS
AON targeting
exon 51
2′OMePS
AON targeting
exon 44
Asklepios
Biopharmaceutical
Intramuscular
injection
(biceps)
Failed to establish
long-term
dystrophin
expression;
immune response
against transgene
in 4 out of 6
patients
PTC Therapeutics Oral Slowed loss of
walking ability
in patients with
DMD or BMD (n =
174) at the lower
of two doses
tested
Sarepta
Therapeutics
Prosensa-
GlaxoSmithKline
Prosensa
Intravenous
injection
Subcutaneous
injection
Subcutaneous
or intraveneous
injection
Well-tolerated
and restored
dystrophin
expression in
7 out of 19
patients in a
dose-dependent
manner (

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At ease
Ben Robertson shares his views on
life, opportunity and finding peace
I wrote recently about Oscar Pistorius – the
South African Olympian who broke all sorts of
barriers by competing at the London Olympics
despite his disability. I thought this man was great, a role model for
us all. Well it may not be that cut and dried because, shortly after the
Olympics, he was back in the headlines, not for something incredible
or inspiring but because he has been charged with the murder of his
girlfriend.
The case is set to be heard in June of this year but Pistorius offers
no defence for the shooting. He has admitted that he shot four times
at someone, connecting three times and fatally wounding them. He
claims that he thought that the person inside the bathroom was an
intruder and only later found out that it was actually his girlfriend.
Public opinion of Pistorius, which has been created by the media, is
good but some believe him to be a loose cannon. It is claimed that he
always carried a gun on him, applied to have more than the four-gun
legal limit and is quick to anger.
Jeopardising the good publicity he brought
to disabled people Pistorius may well have
reinforced a negative stereotype of disabled
people – that of the disabled person as one that is inherently evil.
Often disability is used to connote this in movies, a limp, a hook
for a hand, a patch over the eye or a hunchback are some common
examples but more examples of this stereotype are not hard to find. In
movies like Forest Gump this stereotype is used to create an ‘othering’
effect. The disabled community have perhaps been beginning to
redress the effects of this stereotype but Pistorius’ efforts have done
us a huge disservice.
Perhaps he will be acquitted in June. He has been competing at
track meets all over the world because he has been deemed to be a
non-flight risk; I don’t know why, if I was guilty I would sure want to
flee – disability or not. Maybe this indicates that he is not guilty. Either
way Pistorius’ girlfriend of three months, promising model and law
graduate, Reeva Steenkamp lies dead. I guess we will never truly know
if this was Pistorius’ intention or not.
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Muscular Dystrophy Association of NZ. 0800 22 44 88

NZ NMD Registry update
The NZ NMD Registry is the only one of its kind in New Zealand
and its model is unlike any other in the world which does make it
difficult for us to compare just how well we are doing. However, at a
recent meeting in Australia, Hugh Dawkins from the Western Australia
Department of Health Office for Population Health and Genomics
provided an update on the Australia and NZ Duchenne muscular
dystrophy registries. He outlined the formation of the Australian DMD
registry and then the subsequent involvement of NZ’s MDA and the
formation of the Rare Disease Registries programme.
Current registrations show that some states in Australia are
experiencing difficulties in getting their patients enrolled and most
cited a lack of human resource as the reason for this.
Overall, 67% have genetic data, 60% have complete clinical
data, 9% have partial clinical data and 31% contain no clinical data,
however of the NZ enrolments 75% have genetic data and 93% have
complete clinical data.
New Zealand is currently the only jurisdiction to have registrations
in the SMA database, also housed with the Office for Population
Health and Genomics, totalling 21. As you can see we are measuring
up quite well against the Australian states!
Of course the NZ NMD Registry is about more than Duchenne
muscular dystrophy and spinal muscular atrophy. We have over
360 participants enrolled with the registry with a broad range of
neuromuscular disorders including inherited neuropathies such as
Charcot-Marie-Tooth disease, muscular dystrophies, spinal muscular
atrophies, inflammatory myopathies, inherited ataxias, myasthenic
syndromes and others. There is strength in
numbers so if you are interested in enrolling
with the NZ NMD Registry then talk to your
MDA fieldworker or email registry@mda.
org.nz.
NZNMD Registry Curator,
Miriam Rodrigues
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GenY ine issue
As promised with this article, I have included a photograph
of my family’s adventure to Rabbit Island with Mum’s new
beach wheelchair. It was such fun, everybody needs one!
Since then, I have returned to Wellington and am now in
my third year of university. In fact, my first semester is over at
the end of this month, and I’ve got some big news. I have to
wait for my visa to be confirmed, but it seems that I will be
moving abroad for my second semester. I have been accepted
into my university’s exchange programme with California
State University!
I’ve been to California before, with Koru Care, however
actually moving there, knowing nobody at all, seems exciting,
daunting and completely crazy all at the same time.
One thing that makes it rather scary is the fact that I have
a disability and a wheelchair. Of course, the two go hand in
hand, but I’m a little worried about them separately.
My condition means that I have trouble with stairs and
walking long distances, but I’m not too concerned about
it because the States has a law requiring all buildings to
have disabled access. Honestly, I’m more worried about
my wheelchair. Of all the things to worry about most, the
wheelchair seems silly. After all, it is the thing that gives me so
much freedom and in many ways takes away my disability. But
I think that that’s the reason why I am so concerned about it.
If it gets a flat tire or breaks or gets stolen, it’s going
to be so much more difficult to resolve on the other
side of the world. I can’t simply call my local wheelchair
repair guy (yes, I do have one). I guess I never really
considered how much I truly relied on my wheelchair. Even
though I don’t use it inside buildings, outdoors it functions
as my legs. So the thought of losing my ‘legs’ in America,
although it sounds comical, is actually pretty scary.
With that slightly worried note, I must say that I do have
great faith in the goodness of people, so any concerns I have
are diminished when I remember that. If something drastic
does happen, I’m sure somebody will help me out.
When I’m in the ‘land of opportunity’ I definitely plan on
visiting the MDA over there, to gain some new ideas for the
youth here.
Currently myself and another youth member are organising
a Wellington meet up for younger members aged between
15-30 to be held soon. So if you’d like to be a part of that, to
meet up with us and MDA youths for a casual dinner, do get
in contact. We’d love to have as many people as we can come
along. If you’re interested, contact me at shchristie@live.com
or add me on Facebook http://www.facebook.com/stacey.
christie.16
Stacey Christie,
MDA Young (Rangatahi) Representative
Stacey’s parents, Delwyn and Donald Christie, try out the
new beach wheelchair at Rabbit Island this past summer.
in touch // Winter 2013 // PAGE 36

Legally mindful
Dr Huhana Hickey is an education and law reform
solicitor with recent experience at Auckland Disability
Law (ADL), a community law centre service that aims to meet the unmet legal needs
of Aucklanders with disabilities.
Huhana has direct experience in issues relating to disability. She was the sole
solicitor with ADL until February this year when she took on a new part-time role in
education and law reform to try and concentrate on the legal issues rather than the
case law for Aucklanders with disabilities.
Article 13 - Access to justice
I am sure we all believe we have access to justice? Well, some more than others; the good
news is the UN Convention on the Rights of Persons with Disabilities outlines how we can get
access to justice. The article states:
1. Parties shall ensure effective access to justice for persons with
disabilities on an equal basis with others, including through the
provision of procedural and age-appropriate accommodations, in
order to facilitate their effective role as direct and indirect participants,
including as witnesses, in all legal proceedings, including at
investigative and other preliminary stages.
2. In order to help to ensure effective access to justice for persons
with disabilities, States Parties shall promote appropriate training for
those working in the field of administration of justice, including police
and prison staff.
Article number 1 simply means you have the right to access justice
the same as everyone else and in a way that you can understand.
If you are learning disabled, the courts have to accommodate your
need so you can understand the process whether you are a witness,
or another member of the legal issue. This means you cannot be
discriminated against because you have a disability and therefore
if you have a legal issue you are entitled to have all the legal help
and support you need. This includes the police, lawyers, judges and
everyone who you are involved with when addressing any legal issues.
Article number 2 is where the Government will promote training
for the lawyers, judges, the police and anyone else involved in legal
work, even prison staff. This is possibly easier said than done as until
the Government promotes training at the undergraduate level of
lawyers, judges, the police and prison staff then the training they get
will only have a limited impact.
What can we do about this? Now you know you have rights, you
can say you are entitled and fight for those rights. For instance if
you are a victim of a crime and insist on having justice served, then
if you can’t argue your case verbally you can then insist upon using a
computer or an interpreter for your voice so you can see justice served.
The justice system cannot deny you that right. If you have a family
member who is learning disabled and unable to speak their complaint,
then you can fight for their right to have their case taken up by the
police etc.
We have rights and no one can remove those rights from us. I insist
you use your rights for any injustice you experience. If you need help
and support for your case, then go to your local community law centre
who will assist you or if you are based in Auckland you can go to see
Auckland Disability Law at info@adl.org.nz or phone 2575140 and ask
if you can speak to a lawyer. Remember you do have rights.
Next time we will be looking at Article 14 – Liberty and security
of person. Until then be well and know your rights are there through
the UN Convention on the Rights of Persons with Disabilities and our
domestic law.
Dr Huhana Hickey
IN Touch // Winter 2013 // PAGE 37

CONDITIONS COVERED BY MDA
MUSCULAR DYSTROPHIES:
• Duchenne Muscular
Dystrophy
• Becker Muscular Dystrophy
• Manifesting carrier of
Muscular Dystrophy
• Emery-Dreifuss Muscular
Dystrophy
• Limb-Girdle Muscular
Dystrophy
• Facioscapulohumeral
Muscular Dystrophy
• Myotonic Dystrophy
• Oculopharyngeal Muscular
Dystrophy
• Distal Muscular Dystrophy
• Congenital Muscular
Dystrophies and Congenital
Myopathies
METABOLIC DISEASES OF MUSCLE
- all types including:
• Phosphorylase Deficiency
(also known as McArdle’s
Disease)
• Acid Maltase Deficiency
(also known as Pompe’s
Disease)
• Phosphofructokinase
Deficiency (also known as
Tarui’s Disease)
• Debrancher Enzyme
Deficiency (also known as
Cori’s or Forbes’ Disease)
• Mitochondrial Myopathy
(including MELAS, MERRF,
NARP and MIDD)
DISEASES OF THE MOTOR
NEURONS:
• Spinal Muscular Atrophy -
all types including Type
1 Infantile Progressive
Spinal Muscular Atrophy
(also known as Werdnig
Hoffman Disease)
• Type 2 Intermediate Spinal
Muscular Atrophy
• Type 3 Juvenile Spinal
Muscular Atrophy
(Kugelberg Welander
Disease)
• Type 4 Adult Spinal
Muscular Atrophy
• Spinal Bulbar Muscular
Atrophy (Kennedy’s Disease
and X-Linked SBMA)
DISEASES OF PERIPHERAL NERVE:
• Charcot-Marie-Tooth
Disease (CMT) (Hereditary
Motor and Sensory
Neuropathy) - all types
• Dejerine-Sottas Disease
(CMT Type 3)
• Hereditary Sensory
Neuropathy
INFLAMMATORY MYOPATHIES:
• Dermatomyositis
• Polymyositis
• Inclusion Body Myositis
Should you have a query
regarding a condition
not listed please contact
Claudine on (09) 815 0247,
0800 800 337 or email
Claudine@mda.org.nz
DISEASES OF THE
NEUROMUSCULAR
JUNCTION:
• Myasthenia Gravis
• Lambert-Eaton Syndrome
• Congenital Myasthenic
Syndrome
MYOPATHIES - all types:
• Myotonia Congenita (Two
forms: Thomsen’s and
Becker’s Disease)
• Paramyotonia Congenita
• Central Core Disease
• Nemaline Myopathy
• Myotubular Myopathy
• Inclusion Body Myopathy
• Periodic Paralysis
• ` Andersen-Tawil Syndrome
• Hyperthyroid Myopathy
• Hypothyroid Myopathy
INHERITED ATAXIAS
• Friedreich Ataxia (FA)
• Spinocerebellar Ataxia
(SCA)
HEREDITARY SPASTIC
PARAPLEGIAS - all types - (HSP)
(also called Familial Spastic
Paraparesis)
LEUCODYSTROPHIES - all types
PHAKOMATOSES
(conditions affecting the brain and
the skin)
• Neurofibromatosis
Types 1
in touch // Winter 2013 // PAGE 38

YES, I would like to help.
Please accept my donation.
Please charge my credit card:
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Credit Card No:
Name on Credit Card ....................................................................................................................
Expiry Date:
Signature...............................................................................
Or enclosed is my cheque
Your name ................................................................. Mailing address ...........................................................
.........................................................................................................................................................................................
The privacy act 1993 requires us to advise you that your private details are held in our records for our purposes only, but should you wish us not to do
so at any time you may advise us of this.
Or to make an online donation go to www.mda.org.nz
Return to: Muscular Dystrophy Association NZ Inc.
PO Box 120663, Penrose, Auckland 1642, New Zealand.
Others ways to donate:
- You can call 0900 426 98 to make an automatic $15 donation via your phonebill
- Donate an amount of your choice securely online at www.mda.org.nz
You can also donate via Payroll Giving
Payroll giving is a really easy way to make regular donations to the MDA while also helping you to reduce your
PAYE tax. For example a donation of $20 earns $6.66 in tax credits that is taken off your PAYE, so MDA receives
$20 and you keep $6.66. All you need to give your employer is our name, the amount you wish to donate and
our bank account number. For more information contact us.
To make a bequest to the MDA
You may be thinking of making a will and may wish to include the MDA as a beneficiary. If so we suggest the
following as an option for inclusion in your will:
“I give and bequest to: Muscular Dystrophy Association of NZ Inc. …………% of my estate, or the sum of
$......... for the general purposes of the Muscular Dystrophy Association, I declare that the receipt of an officer of
Muscular Dystrophy Association shall be a full and sufficient discharge of my trustee”.
THANK YOU FOR YOUR SUPPORT
Charities Commission Registration CC31123
IN Touch // Winter 2013 // PAGE 39

It might be you .....
or a family member, a neighbour or a friend.
It could be a wee baby, or a retiree, and could happen at any
stage in life.
Muscle weakness and wasting conditions can strike anyone of
any age, of any ethnicity.
These disabling conditions are called neuromuscular conditions
with most but not all being genetic in origin.
Muscular Dystrophy Association Patron,
Judy Bailey.
We provide services to people with
neuromuscular conditions - services that help
them lead full lives
You can help by
• Telling family members affected by a
neuromuscular condition about us
• Supporting our fundraising efforts
PO Box 120663, Penrose, 1642, Auckland Ph 09 815 0247 / 0800 800 337 www.mda.org.nz