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For people living with neuromuscular conditions
Mō te hunga whai oranga i te mānuka-uaua
InTouch
Kia Noho Tata // Spring 2014 // Volume 84
“Finding a
new way”
Dylan Schneider's
Segway
Story page 6
Individuals out and About and Getting on
Successful Lobbying OUTCOMES
Focus on Duchenne MD
Latest Conference and Research news
And Much
IN Touch // SPRING
2014// more
PAGE 1 .....
Muscular Dystrophy Association would like to thank the following sponsors and supporters
Also thanks to the ANZ Staff Foundation, the Rehabilitation Welfare Trust, The Richdale Charitable Trust, the ARA
Lodge No 348 IC Charitable Trust, the Clyde Graham Trust and the Independent Living Service for their continuing
support.
InTouch
Contents
The Official Journal of Muscular Dystrophy Association of NZ Inc. // Kia Noho Tata // Spring 2014 edition // Volume 84
Out and about
PO Box 12063, Penrose,
Auckland 1642, New Zealand.
Freephone 0800 800 337
NZ Phone: (09) 815 0247
International prefix (00649)
Fax: (09) 815 7260
06
A new way of getting from point A to B 07
Paintings in print - Peter Reid's work
09
Completing our uni journey together
11
Wheelchair body building gets competitive
12
Canterbury Branch acknowledge their star bow tie fund raiser
MDA news
14
From the Chief Executive
Editor: Kimberley Cameron
Email: kimberley@mda.org.nz
Phone: 09 232 1265
15
From the Chairperson
16
In memory of Kerry Hills
17
Persistence pays - lobbying leads to positive change
Contributions:
We welcome contributions, comments
and letters to the editor. We thank all
contributors to this edition.
19
Emotional support
21
Your invitation to the Life Without Limits conference
22
National Office gains new capabilities
Deadline for next issue:
Wednesday 22 October 2014
Your condition in review
23
Duchenne muscular dystrophy in review
Subscriptions: In Touch is available free
to people with neuromuscular conditions,
their families, health and education
professionals and other interested people.
25
Living with Duchenne muscular dystrophy
27
Transitioning into the adult world
28
International study reveals significant hidden costs of DMD
Advertising: In Touch welcomes
advertisements concerning products
and services of relevance to people with
disabilities. For a rate card, please contact
the editor.
Research and relevance
29
Funding secured for study to determine prevalence and impact of genetic muscle disorders in NZ
30
ReWalk Personal Exoskeleton System approved for US home use
Printer: NZ Post
Ph: 09 271 8420
www.converga.co.nz
30
International Congress on Neuromuscular Diseases report The opinions and views expressed in this
magazine are not necessarily those of
Muscular Dystrophy Association.
32
We’ve got our Mojo working - Joseph Boon
33
NZ NMD Registry report - Miriam Rodrigues
34
At ease - Ben Robertson
All material in this magazine is copyright.
You must therefore contact the editor for
permission before copying or reproducing
any of it.
35
Legally mindful - Dr Huhana Hickey
36
GenYine issue - Stacey Christie
37 A neurologist’s knowledge - Dr Richard Roxburgh
Charities Commission Registration:
CC31123
ISSN 1179-2116
In your words
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:
•
Specialised information about neuromuscular conditions.
•
Information about disability equipment, resources and
services.
•
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.
•
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.
•
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 Jayne on
(09) 815 0247, 0800 800 337 or
email Jayne@mda.org.nz
in touch // SPRING 2014 // PAGE 4
CHIEF EXECUTIVE
Chris Higgins
MARKETING MANAGER
Deborah Baker
INFORMATION AND
RESOURCE MANAGER
Jayne McLean
National Service
Leader Melanie Hopley
PROGRAMME AND
SERVICE ADVISOR
Miriam Rodrigues
ACCOUNTANT &
BUSINESS MANAGER
Helen Woods
GRANTS FUNDRAISER
Rebekah Sherriff
SPECIAL PROJECTS
Donna Mason
ACCOUNTS AND
ADMIN ASSISTANT
Olisia Sparey
from the editor
Hi everyone, and welcome to the Spring 2014 edition of In Touch – a
magazine that connects those living with a neuromuscular condition with each
other and the wider medical and support communities.
Our cover story, this quarter, (story page 6) brings to light the
groups (page 17). Victories like
ingenuity and out of the box thinking that some individuals and
these are uplifting, especially for
families with conditions employ to overcome some of their everyday
those who have been or know they
challenges. Dylan’s Segway as a mode of transport is a bit different
will be affected by the outcomes
and, yes, it cost money–however funding was found and the vehicle
and who have worked hard for this
has and will continue to make a huge difference to Dylan and the
impact to be felt.
Schneider family’s lives. It is hoped that as technology advances
increase, more innovations such as these will be able to be adapted
and made available to those in the disability community who can
benefit from them.
Another feature article in this edition (page 7) showcases the
And then there is some sad news
Kimberley Cameron
kimberley@mda.org.nz
we report on in that, as many of you
will be aware, the MDA lost a key staff member and friend with the
passing recently of membership and marketing assistant Kerry Hills.
Kerry was for many years a fixture as gatekeeper at the front desk of
artistic achievements of trained fine artist, Peter Reid. Peter’s story is
the MDA’s Morningside premises and then whizzing through the open
an example of the somewhat hidden talent and accomplishment that
spaces of the new Penrose offices. Kerry’s intelligence and fighting
exists at the heart of this community - thanks Peter for allowing us to
spirit is missed hugely at the MDA National Office and in this edition
tell your story, my hope is that others will follow suit and share their
we acknowledge his contribution but more than anything remember
stories so we can continue to celebrate the successes of our members.
what he gave to his friends, his family and to life. See page 16 for our
In the MDA News section too, we celebrate other successes in
the form of inroads made to policy development and government
regulations as a result of ongoing lobbying by the MDA and associated
heartfelt tribute to Kerry.
And, again, I run out of space - read on for a complete account of
news and views.
Muscular Dystrophy Association would also like to acknowledge its formal partners:
and its membership of the following organisations:
......... and the Disabled Persons Assembly (DPA).
A new way of getting from
point A to B
Dylan Schneider gets around on the envy of all wheels for a ten-year-old, with the added
bonus being he can participate in activities at school and home more fully and conserve
enough energy to still enjoy life.
The young Michael Park School student, who has
"pimped" like in the TV Series Pimp My Ride. Debbie
Duchenne muscular dystrophy, uses a Segway to get to
says, because of the Segway and its tyres, even the very
and from school and to go on weekend outings with his
wet and muddy conditions this winter hasn't stopped
family, and the addition of this mode of transport has
them from getting out.
made a huge difference to Dylan and his family’s life.
Dylan’s Mum, Debbie, initially got the idea that
Although others at school are not generally allowed to
try out the Segway, rides on Dylan’s vehicle were the star
a Segway might be beneficial to her son through a
attraction at his school’s Wheels Day – a day that raised
colleague of hers who uses a Segway at CCS Disability
nearly $200 for the Muscular Dystrophy Association
Action. Having decided it was a good option, since Dylan
and educated those who attended about Dylan’s
was not keen on using a wheelchair, the family set about
condition.
getting funding due to the expense of the motorised
“It has been wonderful for
vehicle. The necessary funding was eventually secured
Dylan to have his freedom and
through the Jubilee Trust, the HE Fairey Trust and the
independence through having the
Wilson Home Trust.
Segway and we are very thankful for
“When Dylan got to try the Segway, his reaction was
the opportunity for him to be able to keep this
that it was "Awesome!!" and he took to it like a duck to
for as long as possible. It has also been better for his
water. He found it really easy to learn and within minutes
Dad’s back, as Dylan used to prefer being piggy backed
he had it mastered and was zipping around the school
to being in a wheelchair, as he didn’t feel he needed it. It
grounds like a real pro.”
now means that Dylan can pace himself more during the
Debbie says Segway NZ was very supportive, in
day and not use up all his energy getting from A to B at
particular Segway NZ Director Philip Bendell. Philip met
school, and is not so tired during his lessons, especially
the family at Dylan's school so that Dylan could first try it
towards the end of the day.”
out and prove to himself, his parents and his school that
In particular the Schneider family would like to thank
it was a great option in regards to making the hilly school
the trusts that funded Dylan’s Segway, and CCS Disability
grounds accessible, and that it was safe for him and his
Action's Community Support Co-ordinator Joel McNae
fellow students.
who helped the family with his personal
“He wears a safety helmet and only uses the slowest
experience of using a Segway and in
key to get around school, and is constantly aware of
assisting them to make the funding
others while he is riding it, to make sure he doesn't run
applications.
into anyone. He also needs to maintain his awareness
For information Northern
of the terrain at all times to ensure that he doesn't
Region’s CCS Disability Action's
exceed the Segway's abilities. Like any form of powered
website to check out various
transport they do have their limitations; however we're
funding options available for
still astounded at what this thing can do. His occupational
people with disabilities.
therapist and physio were quite unsure to begin with, but
www.ccsdisabilityaction.org.nz
are very impressed with how well Dylan is doing on it.”
If extra ‘cool factor’ was required it came with the
extra large tyres Dylan’s parents purchased to make family
walks at beaches and parks safe, more accessible and so
much fun. Dylan says it looks like his Segway has been
in touch // SPRING 2014 // PAGE 6
Dylan Schneider’s Segway
helps him conserve his
energy and gives him and
his family the mobility and
independence they need.
Paintings in print
Auckland resident and trained artist, Peter Reid, has
always felt compelled to express himself visually, to be
creative and to share his love of the fine arts.
Although Peter’s progressive condition, inclusion
ABOVE: The artist, Peter Reid
body myositis (IBM), has caused him to lose the
use of his hands in recent times, he is still finding
Zealand explorer Sir Edmund Hillary. In a caption
ways to continue to bring his appreciation of art to
under this work in the book, he recounts an amusing
others, most recently by the publication of a book
story about Sir Ed’s appearance at the sitting for this
featuring some of his life’s creative work.
painting – Sir Ed’s honed navigational skills had failed
Trained at Elam Art School, Peter had the
him finding the location in an outer Auckland suburb
pleasure of being able to learn from a number of
and he turned up rather late! These types of small
celebrated artists and teachers, his favourite being
stories and memories form a compelling additional
leading 1930s painter, John Weeks.
dimension to the visual narrative.
“He encouraged me to really see the world
Many of Peter’s pieces are held in private
around me and to have faith in my own instincts.”
collections and his public successes include solo
Feeling disillusioned after his training at Elam,
exhibitions and ones individually with Garth Tapper
and following some time at the Canterbury School
and Briar Tucker at Auckland and Waikato galleries
of Arts and then as a draftsman for the North
and museums.
Canterbury Catchment Board, Peter trained and
He was pleased in 2004 to be awarded the
then worked as a civil engineer for many years. His
National Portrait Gallery’s Portrait Competition
interest and enjoyment in painting, however, always
prize for his painting of Scotsman and scientist
remained and he began painting again in 1979.
David Miller.
Peter’s book is testament to his perceptive
Peter is soon to have printed another collection
eye and creative mind, his paintings leading you
of his work and so he continues to share his gifts
through a selection of compelling portraits to
and efforts.
abstract city scenes.
Paintings from top left:
Reid’s portrait of scientist and Scotsman, David Miller,
commissioned in 1982, Oil on canvas. Royal Society of NZ.
Auckland Ferry at rest. 1985. Oil on board. Private collection.
Boats on Foreshore. 1989. Oil on board. Private collection.
During his most productive period, in the 1980s,
Peter painted a portrait of iconic New
IN Touch // SPRING 2014// PAGE 7 Inviting you or your child to take part in the New Zealand
Neuromuscular
Disease
Inviting
you or your
childRegistry
to take part in the New Zealand
Neuromuscular
Disease
Registrycondition we will invite you to take part in
If you or your child has
a neuromuscular
this registry. The registry has received ethics approval. The registry will accelerate and
Iffacilitate
you or your
child
hasbya locating
neuromuscular
condition
will invite quickly
you to take
part in
clinical
trials
potential
researchwe
participants
and efficiently.
this registry. The registry has received ethics approval. The registry will accelerate and
What are
the benefits?
facilitate
clinical
trials by locating potential research participants quickly and efficiently.
There are good reasons for you to register here:
• You may be offered the opportunity to participate in international clinical trials• You will be
There are good reasons for you to register here:
regularly updated about research results, as well as about TREAT-NMD activities. You will
• receive
Youmaybeofferedtheopportunitytoparticipateininternationalclinicaltrials
feedback on new research developments- This means that you will be informed
• aboutYouwillberegularlyupdatedaboutresearchresults,aswellasaboutTREAT-NMDactivities.
new treatments and about what specialists think are the best ways of caring for people
• with Youwillreceivefeedbackonnewresearchdevelopments
neuromuscular conditions
-Thismeansthatyouwillbeinformedaboutnewtreatmentsandaboutwhatspecialists
• You will be assisting the neuromuscular community with the development of recommendations think are the best ways of caring for people with neuromuscular conditions
and standards of care for specific conditions. The standards of care are guidelines for treatment
•
Youwillbeassistingtheneuromuscularcommunitywiththedevelopmentofrecommendations
that have been compiled by international experts.
and standards of care for specific conditions
• You will
help researchers gain more knowledge about the prevalence and natural history of
-Thestandardsofcareareguidelinesfortreatmentthathavebeencompiledbyinternational
neuromuscular
experts. conditions within New Zealand and about the way you are being cared for.
• AllowYouwillhelpresearchersgainmoreknowledgeabouttheprevalenceandnaturalhistoryof
clinical trials in New Zealand to be more easily planned
neuromuscular
within
Zealand
and about the way you are being cared for.
• There is the sense ofconditions
“belonging”
to aNew
broader
community
•
AllowclinicaltrialsinNewZealandtobemoreeasilyplanned
• Feel as if you are not being left behind as as clinical trials develop
•
Thereisthesenseof“belonging”toabroadercommunity
•
Have
a link to the research community
•
Feelasifyouarenotbeingleftbehindasclinicaltrialsdevelop
What are the benefits?
•
Havealinktotheresearchcommunity
There are
also many benefits to the research industry
• Easy access to participant community
There are also many benefits to the research industry
• ClearEasyaccesstoparticipantcommunity
concept of target market
•
and planning of clinical trials
• Feasibility
Clearconceptoftargetmarket
•
Feasibilityandplanningofclinicaltrials
• Recruitment
of participants into clinical trials
•
Recruitmentofparticipantsintoclinicaltrials
The New Zealand Neuromuscular Disease Registry is generously funded by the Richdale Charitable
TheNewZealandNeuromuscularDiseaseRegistryisgenerouslyfundedbytheRichdaleCharitableTrust
Trust and supported by the Neuromuscular Research Foundation Trust.
andsupportedbytheNeuromuscularResearchFoundationTrust.
Formoreinformation:
Emailregistry@mda.org.nz
PhMiriam8150247or0800800337
in touch // SPRING 2014 // PAGE 8
Completing our uni journey together
At the May graduation ceremonies of Victoria University in Wellington, there were none prouder than the families
and friends of our In Touch columnist, Joe Boon and his sister Therese.
Both young people live with Friedreich’s
convenience is not to be wasted).”
hill - in a city of hills - while every year
Joe credits Disability Support at Victoria
there is a marked decrease in balance and
physical limitations stop them from walking
University as being the best in the country,
coordination, requires thinking in precisely
beside their friends in the parade down
because it is staffed by the most proactive,
this way. And it is possible.”
Lambton Quay to Civic Square and across the
positive, and supportive people.
ataxia but neither one of them let their
stage to receive their degrees.
“Our time at university, which for me
With the help of their friends in disability
support , Joe and his sister used wheelchairs
Joe says, their heads shielded from the
came on the heels of spinal surgery (and was
to go backstage, and walk the short distance
drizzle by wobbly trenchers, robes and hoods
less than a year after having been diagnosed
across the stage to receive their degrees.
sometimes flowing in the breeze but more
with Friedreich's ataxia), was made possible
Joe’s study had been concentrated on Film
often getting into tangles, the siblings tried
by the efforts of these fastidiously dedicated
and Political Science while Therese studied
in vain to shake themselves free while not
people.”
Film and English Literature.
missing a step.
At the awards Eleanor Catton, the winner
“I stumbled a bit at first, but managed
of the 2013 Man Booker prize for her novel
it, and shook the hand of the Chancellor
walk in the parade. Neither of us are good
The Luminaries was the keynote speaker and
before triumphantly receiving my degree.
with crowds, and slippery terrain is near
recipient of an honorary doctorate. Joe was
However, my proudest moment was to come
impossible to cross unaided. With the help
particularly impressed by her words.
just as I reached the wing, when I turned and
“Therese and I were adamant we would
of a few generous friends we kept pace and
made it to the Michael Fowler Centre.”
“For Therese this was the conclusion of a
“In her speech she said the most
important word to her is if. ‘‘If’ is a herald
of peace and virtue; it helps us to a better
journey begun at the start of 2011. For me it
conversation, a better world. Every discovery
began in 2009, because my temperamental
or advancement in human knowledge
study habits stretched the course of my
began, in the first instance, with an ‘If’.’”
degree. To graduate beside my sister was a
“That is the lesson I learned from my
true privilege - and it meant the whole family
years at Victoria University. To manage
could attend the ceremony (such priceless
getting around a campus on a steep
watched my sister walk in the light, to the
sound of thunderous applause.”
For more from Joe, see page 35 for
his report on his recent meeting with
Mojo Mathers.
Joe and his sister Therese Boon pictured together
at their graduation ceremony with, 2013 Man
Booker prizewinner, Eleanor Catton.
IN Touch // SPRING 2014// PAGE 9 TA iQ Sets the New Standard
So why is the TA iQ unique?
Indoors with improved functionality:
• A very low floor-to-seat height so you can sit at tables and desks more easily.
• The lower seat height also increases visibility when travelling in a vehicle.
• Higher elevation ensures basins and higher cupboards are within easier reach.
• In tight spaces the mid-wheel Drive will turn easily within a 45cm radius.
Outdoors with softer drive comfort:
• A smoother ride when travelling over bumps, kerbs and loose surfaces.
• The front and rear soft suspension removes any abrupt jarring.
Performance and Safety:
• Travel quicker when you need to, over roads or to avoid the rain.
• TA chairs are New Zealand’s safest vehicle crash tested powerchairs, exceeding international standards.
• Approved for use as a seat and a restraint system when combined with certified tie down or Dahl docking
systems. See videos of the crash testing on our website.
Seat height:
Low 38cm/15”
Suspension:
More comfortable
Safer:
Crash test approved
Higher Elevation:
38 to 68cm
Faster and Further:
12.5 km/h, 40km
Available in mid-wheel drive (MWD), rear-wheel drive (RWD) and front-wheel drive (FWD) configurations.
Yes you can trial a TA iQ! Just ask your therapist.
For more information call 0800 238 423 or visit www.mortonperry.co.nz
Wheelchair body building
gets competitive
- By Olivia Shivas
Joe Djohanli was living a very active life, participating in sport and working as a recovery facilitator and psychiatric
assistant in the mental health field, when he began experiencing symptoms of limb girdle muscular dystrophy (type
2b), a condition he would later be diagnosed with.
“My confidence was shot when I found that my life was going to
be different to what I was used to,” Joe says.
But then, in 2002, he began to train with Fit Futures Director,
David Robson, and although the Hamilton resident uses a wheelchair
most of the time now, being a part of Fit Futures and participating in
wheelchair bodybuilding has changed his perspective on life.
“It’s raised my confidence knowing that even with my disability I
can still achieve things that able-bodied people can do,” Joe says.
President and founder of the New Zealand Wheelchair Body
Building Federation (NZWBBF), David Robson started Fit Futures in
July 2012 as a not-for-profit organisation and personal training service
for people with physical disabilities.
After interest from Fit Futures members, Robson decided to make
wheelchair bodybuilding available in December 2013.
“The good thing about bodybuilding is that almost anyone who
can lift a weight can participate. It has a low risk for injuries and it’s
really just a by-product of the exercise they do in the gym,” Robson
says.
What makes wheelchair bodybuilding training different to
traditional bodybuilding are some of the exercises. Robson and his
trainees think creatively about different ways to achieve similar results
to those of able-bodied lifters.
“People with disabilities may also face mental barriers because
they’ve been told by other people, ‘you can’t do this, and you can’t
do that’. For the people I’m training, it’s about removing those
barriers.”
Robson can see Joe doing great things within New Zealand
wheelchair bodybuilding. “His progress has been really good. He’s
done well training independently as he’s been able to apply what we
have done together,” he says.
The first NZWBBF online event requires competitors to send
photos of their poses to Robson who will, in turn, forward them to
his panel of five judges. Diana Rodda, also a member of Fit Futures, is
on the judging panel.
“We are looking for symmetry and muscle proportion, visibility of
Joe Djohanli (right) lifts his game with trainer David Robson.
Photo: Nikki Kim.
“We want to be a growing movement in New Zealand. We’re
all about all people getting fit and increasing their quality of life.
Bodybuilding is a great way to doing this,” Robson says.
Joe, who is a father-of-two, admires overseas wheelchair
bodybuilders and sees them as motivation.
“When I see the dedication and determination that these athletes
muscle, balance of muscle size. It’s about the all-round judging of the
have, even though they are in wheelchairs, it made me think if they
complete physique.”
can do it, why can't I? For me, personally being able to do this is an
The volunteer worker says the great part about the competition is
that all New Zealanders can participate.
Robson says competitive interest in the event is difficult to predict,
but is expecting 15 to 20 competitors for the first event.
achievement that you can't take away from me.”
The competition entries were due to be sent to the judges on
August 30 and the winners were expected to be announced shortly
after.
IN Touch // SPRING 2014// PAGE 11 Canterbury Branch acknowledges its
star bow tie fundraiser
Though there are many, many fabulous people who contribute to the MDA’ fundraising efforts, the Canterbury
Branch would like on this occasion to specifically acknowledge the efforts of one of its star bow tie campaign
fundaisers, Earle Mason.
Earle has been at the forefront of bow tie collecting in
are The Warehouse stores around Christchurch. I talk with the person
Christchurch for many, many years and in 2014 broke even his own
responsible about my approach and my 'Jingles' like 'Welcome to
tally record, raising for his branch in excess of $6,100.
the Warehouse, where everyone gets a bargain, including the MDA'
The Canterbury Branch’s Sue Robinson, who often assists Earle
in the logistics of his fundraising, says all at the Canterbury Branch
recognise and appreciate Earle’s efforts and his contributions
(I raise my hand at this point) and then, ‘We are grateful for your
generous support at this time.'"
Earle says he also thanks people for shopping at The Warehouse
significantly contributed to an overall record breaking bow tie
'Where everyone gets a bargain'. Unsurprisingly he is welcomed at
fundraising result.
all the stores he visits - Earle says management are very happy to see
him talking to shoppers and staff alike.
“To me 'bow tie week' means
'head down and tail up'..."
“My days could be seven or eight hours long. I also rattle my
bucket and sit midway between the inside doors in the foyer. I use
the MDA banner and wear the MDA hat, and sit in my wheelchair
with my scooter parked close by. After finishing the day it's time to
go home and count the takings for that day and get it banked before
For his contributions, Earle was awarded a special certificate
at a social function held for the Canterbury Branch, but it is the
starting the next day again.
I would like to encourage all who are able next year, to work
satisfaction of knowing he’s doing what he can to give back to the
hard for your local MDA Branch, as the money collected stays in our
MDA that makes it worth it for him.
district.”
“To me 'bow tie week' means 'head down and tail up'. Prior to
Total hours worked this bow tie campaign, 65 hours. Total
the week I set about visiting the places I wish to collect at and talk to
collected $6,158.00. Hourly rate, approximately, $95.00 an hour. Well
the managers about the dates I will be collecting. My main venues
done Earle!
LEFT: Earle and Yvonne Mason on bow tie collection duties in Hornby. RIGHT: Earle Mason uses balloons and ‘jingles’ to brighten his bow tie week collecting
routine at The Warehouse stores in Christchurch.
in touch // SPRING 2014 // PAGE 12
MUSCULAR DYSTROPHY ASSOCIATION
OF NEW ZEALAND INC.
Contact details for the Muscular Dystrophy Association’s branches
NORTHERN BRANCH
If you want issues brought to National Council meetings, talk
Fieldworkers: Kristine Newsome and Darian Smith
Office Manager: Denise Ganley
to your branch representative. They have the responsibility to
Physical Address:
Lion Foundation House 3 William Laurie Place
Albany North Shore City
contact details are as follows:
Postal Address:
PO Box 300429
Albany
North Shore City 7052
Phone: 09 415 5682 or 0800 636 787
Email: support@mdn.org.nz
raise your issues at National Council meetings and to make
sure you are heard. Your branch representatives and their
Northern branch
Trevor Jenkin
Ph 021 267 4380
Email Trevor.jenkin@gmail.com
Wellington branch
Liz Mills
Ph 04 566 9557
WELLINGTON BRANCH
Email stuartcmills@xtra.co.nz
Fieldworker: Dympna Mulroy
Office Manager: Margaret Stoddart
Southern branch
Physical Address:
Postal Address:
49 Fitzherbert Street PO Box 33037
PetonePetone
Lower Hutt 5012
Lower Hutt 5012
Email raewyn.hodgson@xtra.co.nz
Phone: 04 5896626 or 0800 886626
Email: office.mdawgtn@xtra.co.nz
Email: vivienne.palmer@clear.net.nz
Raewyn Hodgson
Ph 03 486 2066
Canterbury branch
Vivienne Palmer
Ph 021 571 258
CANTERBURY BRANCH
SOUTHERN BRANCH
Fieldworker: Paul Graham
Office Manager: Eris Le Compte
Raewyn Hodgson
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
Postal Address:
7 Lynas Street
Outram
Invercargill 9019
Phone: 03 486 2066
Email: raewyn.hodgson@xtra.co.nz
IN Touch // SPRING 2014// PAGE 13 MDA news
From the Chief Executive
Greetings and kia ora koutou,
I’ve been thinking lately about excellence and what this means for the MDA
as an organisation, for its employees, and for its members.
The MDA as an organisation has identified commitment to business
excellence as a strategic priority and demonstrates this through its
membership of the New Zealand Business Excellence Foundation and
through measuring and monitoring of our business results through a mix
of service, financial and operational indicators as included in both our
“balanced scorecard” and our quality management framework.
MDA Chief Executive,
Chris Higgins
Each indicator is associated with an annual
Excellence is further promoted to
Chairperson Lindsay McGregor, I’ve been
target, year to date results and projected
employees through the MDA’s policy
continuing to focus on making a difference
annual results extrapolated from year to date
documents which define standards of
through lobbying and am pleased to report
performance. If our projected end of year
service delivery, safety and conduct. These
elsewhere in this issue on a couple of
results are too far away from our targets, this
documents currently include the MDA’s
potentially significant breakthroughs relating
acts as a prompt to look at how we might
governance, human resources and operational
to ACC vehicle levies and access to orphan
need to change or improve how we do things.
policies and its fieldwork practice framework,
drugs.
The results are important for our
accountability to funders, donors and MDA
members as to how successful we’re being
all of which have been or are in the process of
being reviewed.
For MDA members excellence may be
I’ve noted above the pivotal role of MDA’s
staff in contributing to excellence in all that
we do. We’ve had a few changes lately and
and how well we act as stewards of the
thought of as experiencing positive differences
it’s fitting to welcome the new faces to the
resources that have been entrusted to us.
as a result of what we as an organisation and
MDA National Office team, including Melanie
as employees do.
Hopley (National Service Leader), Helen
For those of us who are MDA employees,
excellence is about doing things to the
As I mentioned in the Summer 2013 issue
Woods (Accountant/Business Manager),
best of our ability and delivering services
of In Touch we seek to make differences
Rebekah Sherriff (Grants Fundraiser) and
professionally and in ways which make
through: empowering and supporting people
Donna Mason (Special Projects).
significant and positive differences. I like to
living with neuromuscular conditions to fulfil
think that all employees have, in the words
their potential and optimise their quality of
contribution Kerry Hills has made to the MDA
of a recent MDA job advertisement, an
life; lobbying to bring about optimal service
both as an employee for over twelve years and
unflinching commitment to excellence!
delivery and access to services, therapies
as an MDA member. He passed away in mid-
The MDA encourages this by supporting
and facilities; supporting health and other
July after a short illness and we pay tribute to
staff to join and adhere to the standards of
professionals with information, advice and
him elsewhere in this issue. He was a highly
professional bodies (such as Aotearoa New
resources so that they deliver the best possible
valued friend, colleague and member of our
Zealand Association of Social Workers, NZ
services to people living with neuromuscular
work family, and we miss him terribly.
Association of Occupational Therapists etc.). It
conditions; fostering positive public attitudes
also requires its fieldworkers to positively and
via awareness campaigns; and extending the
regularly engage in MDA provided internal
benefits of MDA membership to people living
peer and paid external supervision, which
with neuromuscular conditions who are not
promotes professionalism in service delivery
yet members.
through practice reflection and improvement.
This issue of In Touch includes examples
The MDA also encourages staff to participate
of how we’re seeking to bring about positive
in a range of paid internal and external
differences in a number of the above areas.
training and development opportunities.
As MDA’s Chief Executive, together with
in touch // SPRING 2014 // PAGE 14
In closing I wish to acknowledge the huge
Ka kite anõ – until next time
Chris Higgins
Chief Executive
MDA news
From the Chairperson
Hi everyone,
As I’m sure you are aware, a very important part of MDA’s work is
lobbying on issues that affect us all and there has been a noticeable
increase in the number of issues that the team at National Office have
been working on.
You will be able to read about some of these issues in this In Touch, and I
wanted to mention one issue that I assisted in – the Building (EarthquakeProne Buildings) Amendment Bill. This Bill is aimed at upgrading buildings
prone to earthquake damage in the event of any future earthquakes.
MDA Chairperson,
Lindsay McGregor
However, the proposed Bill includes
• is unnecessary as it assumes that the cost
awesome result as it converts to the number
an exemption to avoid making buildings
of making a building accessible may make
of times that someone has likely seen our
accessible to everyone.
earthquake strengthening prohibitively
advert, brand and message.”
I’m sure that many of us have plenty of
examples of the frustrations of not being
able to access buildings easily, or not at all,
and being made to feel like second class
citizens, when with a little bit of thought
most buildings can easily be made accessible.
The team prepared an excellent
submission and we were subsequently invited
to discuss this at the formal hearing held in
June.
Chris and I went to this and it was a
little bit daunting being in front of nine
MPs presenting our case. It must be a
fairly tedious job for MPs to sit through
presentations, particularly in this case as the
few we stayed for were very technical.
Our presentation covered several areas:
That the proposed exemption:
• is unfair as it discriminates against people
expensive.
We also highlighted that our previous
National Office had significant accessibility
issues so when we purchased other premises
we ensured they were upgraded to be fully
accessible. Whilst there was a cost to do this
we pointed out that if a charity with limited
funds and insecure income could make its
premises accessible then anybody should be
able to do so.
So our presentation was much more
about the unfairness of not being able to
access some buildings when all we want to
do is get on with our lives like everyone else.
I think we at least got the MPs’ attention
and I hope we successfully got our message
across.
At the June National Council meeting
our Marketing Manager, Deborah Baker,
with disabilities by denying them assess to
presented a very informative report which
buildings, risking further marginalisation
covered a detailed review of the impact of
from their communities.
this year’s bow tie campaign.
• runs contrary to current legislation
including the Building Act, the Human
Rights Act and Article 9 of the Convention
on the Rights of Persons with Disabilities,
all of which makes it unlawful to deny
people with disabilities access to the
physical environment on an equal basis
with others.
And it has been great to hear that this
year’s campaign has been really successful
with increased enthusiasm and number of
volunteers out there getting our message
across and collecting donations.
We now need to look forward to our
ongoing annual campaign and continue
to challenge its strategic objectives and
rationale. Initial thinking is that the bow
tie logo and concept adds little value
to achieving our main objectives and is
restrictive to fundraising opportunities as
it can be difficult to explain. The National
Council has endorsed this view and so in
consultation with branches and members we
will look to potentially move away from the
bow tie concept over the next three years.
Now that winter is really upon us I hope
you are all keeping well.
The main objectives of the annual
campaign are primarily to raise awareness
nationally of the MDA and its cause and to
Lindsay McGregor
MDA Chairperson
promote donations for the branches and the
national association.
There was a substantial media campaign
that delivered in excess of 6.8 million
impressions. In Deb’s words “this is an
IN Touch // SPRING 2014// PAGE 15 MDA news
emorium
M
n
I
Kerry Hills 1981 – 2014
A life well-lived
It is with great sadness that we report the passing of MDA Membership and Marketing Assistant, Kerry Hills.
Kerry was a pivotal part of MDA, and over
member of the project team responsible for
the years working here he has contributed
designing the premises and ensuring that all
hugely to the team and the Association.
aspects of the physical environment were
Kerry could always be relied upon to provide
fully accessible. He advised (and at times
amazing advice and guidance and, because of
insisted) on everything from the height of
the sort of humble, down to earth person he
electrical switches, to the angle of access
was, he always underestimated what a huge
ramps, width of passage and doorways
role he played here at MDA.
and the layout of bathroom facilities. The
Kerry was always sure to keep the
premises are an exemplar of accessibility for
atmosphere in the office lighthearted and
other organisations, which is a testament to
jovial, he always had a cheeky comment, joke
Kerry’s commitment, tenacity and attention
or story to share but by the same token was
to detail.
an intelligent and considered person who was
Kerry was a part of the MDA National
able to learn and quickly master any task he
Office work family and will be very much
took on.
missed. He’s left a big gap and even though
Beginning work at the MDA’s National
somebody else will take over his job, Kerry
Office on 18th July 2002, Kerry was first
himself, because of the person he was, will
employed as a data entry operator, then
be irreplaceable.
database administrator and receptionist,
In achieving what he wanted out of his
assistant accounts administrator,
life, Kerry saw his debilitating neuromuscular
administration officer and for the last four
condition, not as a limitation but as a
years membership and marketing assistant.
challenge to overcome and he was forever
The change in titles show that Kerry was
devising ways to get the better of things, to
always willing to turn his hand to whatever
be more independent and to live his life more
needed doing, and demonstrates an ever
fully.
increasing appreciation of Kerry’s many skills
and abilities.
At the time of Kerry’s passing he was
The fond memories, stories and jokes
that were shared about Kerry, at a memorial
service in his honour on 19th July, clearly
Remembering Kerry Hills
MDA’s longest serving National Office
presented the richness and fun that Kerry
employee. He’d become the office guru for
brought to the lives of his extended family,
background to the service and aptly
all things technical and IT related, and he had
friends, carers, supporters and work
represented Kerry’s commitment to life, fun
huge knowledge of the Raisers Edge donor
colleagues, and too his strength, cheekiness
and breaking barriers. One got the sense,
and membership database.
and love for those close to him. Kerry’s sense
as Kerry was farewelled, that he would have
of family was clearly demonstrated in his
approved of his send off and if he could have
will be the accessibility of the National
music for the opening of his service - We are
been there, he would have been the life of
Office premises in Penrose. Kerry was a key
Family by Sister Sledge.
the party.
Perhaps one of his most enduring legacies
in touch // SPRING 2014 // PAGE 16
Love and laughter provided the
MDA news
Persistence pays - lobbying
leads to positive change
Lobbying the government and its agencies to bring about change can be hard work. There’s often little to see for
our efforts, we’re frequently met with resistance, and we’re mostly given all the reasons why the changes we’re
seeking can’t happen. In the scheme of things the MDA is a very small organisation, and it sometimes feels as
though we’re David taking on Goliath, but without the slingshot!
What we do have, however, is persistence
haemoglobinuria, have been lobbying for a
• Rapidly advancing developments in
and collaborators. Constantly dripping water
separate rare diseases fund, similar to those
molecular genetic technologies are
will eventually change the shape of a stone,
overseas in Australia, Scotland and elsewhere.
contributing to an accelerating rate of
and this happens that much more quickly as
It is very pleasing therefore to report that
discovery of genetic mutation-specific
in response to our persistent and combined
treatments, which will inevitably be
It’s gratifying therefore to be able to
lobbying PHARMAC has established a
reflected in increased demand for
report that we’ve seen a couple of recent
contestable fund for medicines for rare
pharmaceuticals. MDA recommends
advances including PHARMAC announcing
disorders. Even though we’ve told PHARMAC
that PHARMAC reviews its modelling of
its contestable fund for medicines for rare
that the size of the fund ($5m per year for
demand for rare disorders medicines in
disorders, and ACC proposing to change how
five years) won’t be nearly enough to meet
order to arrive at a quantum of funding
motor vehicle levies are determined, which we
demand, the MDA nevertheless welcomes it
which will be realistic and fair.
hope will result in fairer and more affordable
as a significant first step towards people with
• The requirement for treatments to
outcomes for owners of vehicles used to
neuromuscular conditions getting a fair go
substantially improve quality of life
transport power wheelchair users.
in accessing treatments when they become
should be relaxed to provide for onset of
available.
symptoms to be at the least stabilised.
more of us work together.
PHARMAC’s contestable fund
for medicines for rare disorders
At the time of writing the details of the
fund were still subject to consultation and the
MDA has responded with a formal submission
to PHARMAC which can be read in full at
www.mda.org.nz.
Long-time readers of In Touch will know
neuromuscular disorders. Our efforts to date
The MDA’s submission on the
recently established fund can
be summarised as follows:
have focused on funding Myozyme for late-
• We’re very concerned that people with
that for years the MDA has been lobbying
PHARMAC to fund medicines for rare
• We’re concerned that PHARMAC proposes
to define rare disorders as having a
prevalence of one in no less than 50,000
people. While this will cover people
requiring mutation-specific therapies, it
won’t cover treatments for conditions with
a greater prevalence such as dystrophinsubstitutes for Duchenne muscular
dystrophy.
• We’ve once again said to PHARMAC that
onset Pompe disease, which will be extended
neuromuscular conditions will miss out
to treatments for other neuromuscular
rare disorders do not lend themselves to
as a result of the available funding having
conditions when they become commercially
the production of the same strong clinical
been expended before treatments for their
available.
trial based evidence of efficacy that is
conditions have become commercially
associated with treatments for common
available. This will mean that they will
for rare disorders is that the cost benefits
disorders. We’ve also said any cost benefit
be denied access merely through being
don’t stack up well when compared to
comparisons of treatments should be
among the last to join the funding queue.
medicines for more common conditions. For
confined to those competing for the
If their case for access is as strong as that
this reason the MDA, along with NZORD and
contestable fund and exclude comparisons
of others who have had their treatment
rare disorder support groups for cystic fibrosis,
with the cost benefits of treatments for
funded earlier this will clearly be an unfair
lysosomal diseases, and paroxysmal nocturnal
common diseases.
outcome.
A big barrier to the funding of medicines
continued on page 19
IN Touch // SPRING 2014// PAGE 17 Invacare
“Alber Twion”
Twion power assist
offers new freedom
and maximum
independence.
The electric motors equipped with leading-edge digital
electronics provide you with extra power for every Lightweight
propelling movement. The sensor fitted to the hand rim In the selection of materials,
particular attention was
calculates precisely the right amount of support.
The silent direct drive ensures high agility and simple
handling. You are actively on the move and reach your
destination quickly, efficiently and calmly.
focused on weight. Hightensile aluminium alloys,
high-tech plastics and
the latest digital motor
technology have been used.
BlueDrive
The innovative BlueDrive
function allows wheelchairs
equipped with twion drive
wheels to be remotely
controlled by Smartphone*
* For safety reasons, the BlueDrive function may only be used without
wheelchair occupants for free wheelchair positioning.
0800 INVACARE | www.invacare.co.nz
Efficient energy
recovery
The efficient energy recovery
system feeds energy back
into the batteries during
braking, providing a 10%
range extension for greater
freedom.
MDA news
In summary, therefore, MDA welcomes the
vehicles. We hope that this will translate
new fund as an important first step, but there
into levies that are lower than those for
are significant issues to be worked through
vehicles used primarily to transport standard
before we can be confident that people with
goods.
neuromuscular conditions will benefit from it.
Events to diary
ImagineBetter "Moving On - Success
in Transition" Conference
Wednesday 12 to Friday 14th
November 2014
ACC vehicle levies
MDA has for years been lobbying ACC (and
the ACC Minister) on behalf of the many
Te Papa, Wellington
Visit http://www.imaginebetter.co.nz
for more information and to book
MDA members who are power wheelchair
users and therefore require a large van for
personal transportation due to the weight of
a power wheelchair. Currently when licensing
Northern Branch Christmas Party
The Hamilton Workingmen's Club
Sunday 30th November
their vehicle they are unfairly paying a large
ACC levy as their vehicle is classed as a goods
service vehicle when in fact it is used as a
passenger vehicle only. We’ve therefore told
The MDA hopes that this will result in
ACC that vehicles registered as goods services
people who are disabled, using power
vehicles where their actual use is private
wheelchairs and therefore requiring a
passenger rather than the carriage of goods
large van for private transport paying an
should attract the same levy as a private
appropriate amount rather than necessarily
passenger car.
the same as a contractor, for example, using
It seems as though somebody might
have been listening.
We understand that ACC’s proposals for
a large van to transport standard goods. It
was difficult to verify that this would be the
case from the information supplied by ACC
vehicle levies for 2015/16 will mean that
as part of the levy consultation process, and
vehicles of power wheelchair users will
we’re awaiting a response to our request for
now be able to be classified as passenger
clarification.
Please contact the Northern Branch
for more details
MDA-ANN Neuromuscular
Conference
Life without Limits
Sky City Convention Centre
16-18 April 2015
Emotional support
As things change feelings can change too. Living with a neuromuscular
condition has its challenges and sometimes it can help to acknowledge
that emotions are a part of these challenges. If you or your loved ones
need a bit of extra support in this area the MDA is here to help you.
As a simple starting point we have a
booklet on what you might experience as
loss or grief about how things are compared
Contact your local MDA
Fieldworker
of neuromuscular conditions, and will have
a better understanding of your needs and
challenges. Have a chat over the phone or they
The MDA Fieldworkers are here to help
can come to you for a kanohi ki te kanohi/
Go to http://www.mda.org.nz/information-
you as an MDA member, whether you are
face-to-face visit. They may have some real
resources/for-people-living-with-a-
the person diagnosed with a neuromuscular
practical suggestions that have worked for
neuromuscular-condition for the online
condition, a carer, or a friend or family
others to offer as well. This service is offered
version or email info@mda.org.nz and we
member of someone living with the condition.
free of charge to MDA members and is funded
will post one out to you.
They have in-depth knowledge of a range
through donations and grants. Contact your
to how you had imagined they would be.
continued on the next page
IN Touch // SPRING 2014// PAGE 19 MDA news
local MDA Branch (details on page 13) to be
put in contact with your fieldworker.
Join the MDA Support
Network
What is the MDA Support
Network?
Talk to a counsellor
Community based agencies
Some community-based agencies, for
example Home and Family Counselling
The MDA provides up to three free
and Lifeline offer face-to-face counselling
confidential counselling sessions per year
sessions and don't set fees for their services.
to MDA members+. The aim is to help
Instead ask clients to make a donation, which
MDA members who have a neuromuscular
they can afford. Many counsellors, however
condition, their carers and other whanau/
do charge a fee for their services but funding
family members by partnering with
for this can be sourced through WINZ if you
EAPworks to allow easy access to
are receiving the Disability Allowance or are
with similar circumstances or issues to come
professional, accredited and experienced
on a low income. However you are limited to
together to share their experiences and
counsellors in alignment with the MDA's
a set amount of counselling sessions via this
provide each other with emotional and moral
VISION "people living with a neuromuscular
method.
support in addition to practical advice and
condition having unrestricted opportunities
information. By bringing together people
to achieve their full potential"
Telephone counselling
The MDA Support Network allows people
with common experiences, support networks
Challenges can come in all shapes and
can provide an invaluable addition to medical
sizes which means that the issue that make
care. The MDA Support Network currently
be keeping you up at night or the strong
has over 400 members throughout New
emotions that you may be experiencing may
Zealand who want to be in touch with others
not be directly related to a neuromuscular
living with neuromuscular conditions.
condition. If you think that you need that
How can you be a part of the MDA
Support Network?
little bit more assistance to get through then
If you are an existing member of the MDA
let EAPWorks know what you need and give
please phone 0800 SELFHELP (735 343) and
then please email info@mda.org.nz or phone
them your membership number*. This gives
0800 800 337 and select option 1 to request
MDA members living with a neuromuscular
the MDA Support Network Application Form.
condition (any MDA member who has a
If you are currently NOT a member of
neuromuscular condition or lives with or
the MDA then you will need to join first.
takes care of a person with a neuromuscular
Membership forms are available on our
condition) access to three fully funded
website www.mda.org.nz or contact your
counselling sessions appropriate to your issue
local branch to join. Branch details are on
paid for by the MDA. Everything discussed is
page 13. You can also talk to your local MDA
confidential. Other members will need to be
Fieldworker who can suggest other MDA
approved on a case by case basis.
members who might be a good match to
EAPWorks
your situation.
Attend one of the support
groups available
Several already existing support
EAPworks' counsellors are carefully
selected to ensure they have appropriate
tertiary professional qualifications, must
possess current membership of a relevant
groups are out there for people with a
professional body and/or government
neuromuscular condition. We have listed
registration, minimum of 5 years experience
some of them on our website (http://www.
undertaking regular supervision, and
mda.org.nz/neuromuscular-conditions/
possessing current professional indemnity
support-groups/) or call 0800 800 337 for
insurance. More information about
more information. Please note these groups
EAPworks is available on the MDA website
are not necessarily affiliated with the MDA or
http://www.mda.org.nz/media/41171/
it's branches.
EAPWorks_Information.pdf
in touch // SPRING 2014 // PAGE 20
Telephone counselling is a professional
service that enables callers to work through
issues affecting their life, reaching decisions
that are constructive and positive. It may be
in moment of crisis but need not be - there
are times in everyone's life when even small
problems can seem insurmountable and
talking it through with someone can be
of real help. Telephone counselling is not
"problem solving" and it is not giving advice
or advocating a particular course of action.
It is rather, about forming an empathic and
non judgmental relationship in which the
caller feels safe to talk about anything, often
in a way that is not possible with family or
friends.
+Disclaimer: All sessions are provided at
the discretion of the MDA NZ Ltd and are
reliant on funds being available. The initial
three sessions will be at no cost to eligible
MDA members, further sessions will be at
the members own expense unless further
sessions have been preapproved. Sessions
do not accumulate and are on an as needed
basis. The MDA NZ Ltd has taken reasonable
steps to ensure that the quality of the
service provider is high but cannot take
responsibility for any failings of EAPworks in
the provision of this service. This service may
be withdrawn without notice.
*If you do not know your membership
number please contact MDA National Office
on 0800 800 337 or email info@mda.org.
nz to request it.
Your Invitation To Attend
Life without Limits neuromuscular conference provides an opportunity for families affected by neuromuscular
conditions, clinicians, researchers, and allied health professionals to get together, share progress and ideas and
participate in informative breakout and training sessions.
Our conference theme, Life without
Limits, is about empowering families through
knowledge about the rare conditions they live
with, supporting clinicians and researchers
to make the best choices for their patients,
who are often experts on their own particular
condition, and engendering tūmanako /hope.
excellent calibre. These sub-themes are:
• Learning from the past - current best
practice for neuromuscular conditions.
• Looking to the future - the latest in
neuromuscular research.
• What’s it like? – living with a
The conference programme will cover
important issues including cardiac and
respiratory care as well diet and exercise.
Researchers funded by the Neuromuscular
Research Foundation Trust will also be
presenting their work. A programme for
neuromuscular condition. Perspectives
children is also being developed so that
from siblings, parents, children, carers and
families can attend with parents knowing
themes have been developed with each
people diagnosed with neuromuscular
that their children are being well-cared for
involving key-note presenters and speakers of
conditions.
(and having heaps of fun!)
Beneath this overall theme, three sub-
Great news for MDA members with a neuromuscular
condition and family members living with and caring for
a person diagnosed with a neuromuscular condition
– we know that cost can be a barrier
for some of our members, and the
MDA doesn’t want anyone to miss
out on this event. So the MDA is
pleased to announce, for those that
find the cost of registration a barrier
and are eligible, that it is offering a
full subsidy for the registration cost of
attending the conference.
To confirm eligibility and receive
a promotional code that you will
need to register at no charge
contact Jayne at the MDA National
Office - 0800 800 337 or info@
mda.org.nz.
Do you have a story about living
with a neuromuscular condition
that you’d like to share with others?
Perhaps you have an innovative way
of overcoming mobility issues or
have had an experience that others
could learn from? The Conference
Programme Committee would like
to hear from you! Please consider
submitting an abstract to present
your story at the Conference – this
can be done at the conference
website:
www.mda2015.org.nz
IN Touch // SPRING 2014// PAGE 21 National Office gains new capabilities
Hi I’m Rebekah
Sherriff......
the new Grant
s Fundraiser fo
r
the MDA. I love
writing, and
I’m hoping that
I can use my
powers of persu
asion to secure
the ongoing fu
nding the MDA
needs to give m
embers and th
eir
support crew th
e assistance th
ey
need. I’m very
excited to be p
ar
t
of making a re
al difference to
the lives of peo
ple living with
neuromuscular
co
nditions.
In addition to m
y work at the M
DA, I’m curren
my PhD in hea
tly doing
lth psychology
through the Un
Auckland. Abo
iv
er
sity of
ut 30% of peo
ple continue to
have somethin
worry they
g seriously wro
ng with them
normal medical
after they get
test results, an
d my research
on understand
is focused
ing why. I am al
so the Health Ed
website for mill
itor for a
ennial women;
Literally, Darlin
in this demogra
g. If you are
phic and have
ideas for article
contact me – I
s, feel free to
would love to
use my powers
for good!
ds ........
o
o
W
n
le
e
H
is
My name
joined the
I have recently
and
n
ophy Associatio
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Office Accoun
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anager.
and Business M
ting
und in accoun
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and business co
any small to
worked with m
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businesses, wh
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f
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wide variety
has given me a
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at I hope will b
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s
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p
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A.
benefit to MD
for the
d and my love
n
la
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A
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om home.
I was born and
ever stray far fr
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th
s
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City of Sails m
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Weekends in th
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organisation that places
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struck gold with the MDA,
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an organisation that I believ
the great work that has
My aim is to continue with
for opportunities to
been done, but also to look
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improve the MDA service and
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management background and
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members.
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Auckland and Canterbury.
Your condition in review
Duchenne muscular dystrophy
becoming more than just a pipedream as
What is Duchenne
muscular dystrophy
(DMD)?
several progress to clinical trials. Unfortunately
death is premature and is usually due to
breathing complications or cardiomyopathy.
What causes DMD?
Duchenne muscular dystrophy (DMD)
DMD, the largest known human gene,
is a progressive muscle disease that affects
approximately 1 out of every 3600 baby boys
provides instructions for making a protein
born. It is the most common of the muscular
called dystrophin. It is defects in the code
dystrophy disorders and is caused by an
(DNA) that tells the body how to make
absence of a protein called dystrophin. Closely
this protein that causes DMD. This protein
related to DMD is Becker muscular dystrophy
is located primarily in muscles used for
(BMD) which is caused by a decreased or
movement (skeletal muscles) and in heart
abnormal quality of the same dystrophin
(cardiac) muscle. Small amounts of dystrophin
protein. Though similar in presentation,
are present in nerve cells in the brain.
In skeletal and cardiac muscles, dystrophin
BMD has a much milder degree of severity
and slower clinical course because there is
functional dystrophin produced.
Duchenne muscular dystrophy is named
after the French neurologist Guillaume
Benjamin Amand Duchenne (1806–1875), who
described and detailed the case, in a book in
1861, of a boy who had this condition.
Features of DMD
The symptoms usually appear before
Dystrophin protein is needed for healthy
muscle cell function. A genetic fault in the
code for this protein means that there is
little or no protein manufactured and the
muscle cells are easily damaged. This damage
builds up over time and leads to the muscle
weakness experienced in DMD. Image
sourced from http://mda.org/disease/beckermuscular-dystrophy/causes-inheritance
the legs, making the muscles unusable.
There is a steady decline in muscle strength
is part of a group of proteins (a protein
complex) that work together to strengthen
muscle fibres and protect them from injury
as muscles contract and relax. The dystrophin
complex acts as an anchor, connecting
each muscle cell's structural framework
(cytoskeleton) with the lattice of proteins and
other molecules outside the cell (extracellular
matrix). The dystrophin complex may also
play a role in cell signalling by interacting
age 6 and may appear as early as infancy.
between the ages of 6 and 11 years. By age
with proteins that send and receive chemical
Typically, the first noticeable symptom is
10, braces may be required for walking,
signals.
delay of motor milestones, including sitting
and by age 12, most boys are confined to a
Little is known about the function of
and standing independently. The mean age
wheelchair. Bones are also affected and may
dystrophin in nerve cells. Research suggests
for walking in boys with Duchenne muscular
not develop normally. Muscular weakness
that the protein is important for the normal
dystrophy is 18 months. There is progressive
and skeletal abnormalities such as scoliosis
structure and function of synapses, which are
muscle weakness of the legs and pelvic
(curvature of the spine) frequently contribute
specialized connections between nerve cells
muscles, which is associated with a loss of
to breathing disorders.
where cell-to-cell communication occurs.
muscle mass (wasting). This muscle weakness
Cardiomyopathy (weakened heart muscles)
Skeletal and cardiac muscle cells without
causes a waddling gait and difficulty climbing
occurs in almost all cases, beginning in the
enough functional dystrophin become
stairs. Getting up off the floor is difficult
early teens in some, and in all after the
damaged as the muscles repeatedly contract
and boys tend to use their arms to support
age of 18 years. Intellectual impairment or
and relax with use. The damaged cells weaken
the torso when doing this (called the Gower
learning difficulties may occur, but this is not
and die over time, causing the characteristic
Manoeuvre). Muscle weakness also occurs in
inevitable and does not worsen as the disorder
muscle weakness and heart problems seen in
the arms, neck and other areas, but not as
progresses.
Duchenne and Becker muscular dystrophy.
severely or as early as in the lower half of the
body.
Calf muscles initially enlarge and the
Untreated DMD leads to death by
complications at about 19 years of age. With
treatment advances over the years men who
enlarged muscle tissue is eventually replaced
may have died previously are now able to
with fat and connective tissue. Muscle
complete their education, obtain employment
contractures (permanent shortenings) occur in
and live into their 30s. Treatment options are
What are the genetics of
DMD?
The sex chromosomes X and Y determine
if a baby will be a boy or a girl. DMD is caused
by a defect in the dystrophin gene on the X
IN Touch // SPRING 2014// PAGE 23 Duchenne muscular dystrophy
chromosome. One functioning copy is enough
to prevent DMD. Girls receive an X from
mum and an X from dad and are described
as XX. Boys receive a Y from dad and an X
from mum and are described as XY. As boys
have only one X chromosome if they inherit
an X chromosome with the nonfunctioning
dystrophin gene then they will have DMD.
The mother is described as a carrier and
with one functioning dystrophin gene is
usually unaffected. A carrier mother has a
25% chance in each pregnancy of having an
affected male child and a 25% chance in each
pregnancy of having a carrier daughter.
but approximately 10% of female carriers
show symptoms of DMD. Although the
disorder in affected girls is usually much
milder than in boys, and may include or even
exclusively affect cognitive and/or cardiac
function, a few girls do have DMD similar in
severity to boys.
‘Manifesting’ DMD occurs because there
are two X chromosomes in each girl’s cells.
This is a double up of the genetic information
on the X chromosome so each cell ‘turns one
off’. When the X chromosome that has the
functioning dystrophin gene on it is turned off
then that cell has no dystrophin protein and
will be as affected as males with DMD. The
number and type of cells which contain the
functioning dystrophin gene determines the
level of severity in a manifesting carrier.
Diagnosis of DMD
DMD should be suspected in all cases
when the following signs are present due
to the potential lack of a family history.
Most commonly it will be the observation of
abnormal muscle function in a male child,
occasionally the detection of an increase in
Image sourced from http://www.
geneticseducation.nhs.uk/mededu/modes-ofinheritance/single-gene-conditions/x-linkedconditions
serum creatine kinase tested for unrelated
indications or after the discovery of increased
transaminases (aspartate aminotransferase
and alanine aminotransferase, which are
Approximately 1 in 3 boys with DMD will
produced by muscle as well as liver cells). The
be the only person in their family to have the
diagnosis of DMD should thus be considered
condition. This is because the error in the gene
has occurred randomly for the first time in the
cells that made them. This is called a de novo
mutation (new and not inherited).
Genetic counselling is available to families
who have had a diagnosis of DMD. This
service provides information, helps families
understand inheritance patterns and what this
means in their family. They can also explain
reproductive options available enabling people
to make more informed family-planning
decisions. Carrier testing of female family
members can be arranged if desired when
there is a known genetic mutation detected.
Manifesting carriers of
DMD
It is a commonly held belief that carriers
merely pass on a condition and are unaffected
in touch // SPRING 2014 // PAGE 24
before liver biopsy in any male child with
increased transaminases. Also the presence of
Gowers’ sign in a male child should trigger the
Confirmation of a
diagnosis
Currently diagnosis of DMD can be
confirmed via genetic testing of a blood
sample. There are several errors that affect
the functioning of the dystrophin gene and
once detected this confirms the diagnosis.
Sometimes the error is unable to be located.
This does not necessarily mean that the boy
does not have DMD just that the specific
genetic error is hard to determine.
When DMD is suspected but a genetic test
is inconclusive a muscle biopsy is required. A
muscle biopsy can provide information on the
amount and molecular size of dystrophin, as
long as the protein is present. Or the measuring
of total and partial absence of dystrophin can
help to distinguish DMD from other conditions
caused by errors in dystrophin production.
Management of DMD
The management of Duchenne muscular
dystrophy (DMD) has seen dramatic change
over the past two decades. Improvements
in clinical monitoring of disease progression,
management of cardiac and pulmonary
complications, and nutritional intervention
have all led to decreases in other conditions
commonly associated with DMD, and, as a
consequence, quality of life and life expectancy
of individuals with DMD have both continued
to improve.
Children with DMD should be under the
diagnostic investigation of DMD, especially if
care of a paediatric neurologist who can refer
the child also has a waddling gait. Toe walking
to other medical disciplines as required.
might be present but is not additionally helpful
in deciding whether to suspect DMD.
When there is a positive family history of
DMD, there should be a low threshold for
testing creatine kinase, although this will be
influenced by the age of the child. In a child
less than 5 years of age, suspicion of DMD
probably cannot be excluded completely by
a normal muscle examination. However, with
increasing age, a normal muscle examination
makes the chance of a child having DMD less
and less likely. A boy older than 10 years of
age with normal muscle function is highly
unlikely to have DMD.
THE DIAGNOSIS AND MANAGEMENT
OF DUCHENNE MUSCULAR
DYSTROPHY: A GUIDE FOR FAMILIES
If you are caring for a child with DMD this
is a must have, please either access this
app on your mobile phone by going to
the android app store and searching “dmd
guide”, download it from the MDA website
or contact us to request a booklet be posted
to you. Additional information and support is
available to you including DVDs and booklets
specific to DMD. To access these contact the
MDA's Information and Resources Manager
on 0800 800 337 or info@mda.org.nz.
Living with a condition
Dinosaur Mac's Discovery
Dinosaur Mac’s Discovery is a book about
a little boy who likes to take his dinosaur tail
everywhere. He gets tired at times and realizes
he needs to use a handrail when climbing
steps. In the book, the wee boy, Mac, asks his
Mum and Dad a few questions about why
he is tired and why he is the only boy who
holds onto a handrail ... His parents answer
him simply but effectively. Because Mac
has different muscles he goes on lots of
adventures, goes to physios and swimming,
and sees the paediatrician.
Mac even takes his tail to school with
him. Dino Mac then gets some wheels (a
wheelchair) to help him rest when he is tired
but his tail sadly won’t fit……the book will
reveal how his family solve this.
The book's author, Erin Feasey, is Mum
to nearly four year-old son, Alex, who has
Duchenne MD, and Izzy two and a half.
“When we lived in Hamilton we thought if
we went to all the MDA events it would be
good for Alex to meet others and we would
be able to explain to him that we go to these
events because his muscles work differently
just like the other boys at these events.
We subsequently moved to Auroa (South
Taranaki) because Myles became the Deputy
Principal of Auroa Primary School, and we
wanted to be able to live the country life and,
although we love it here, we are no longer
able to attend these events.”
Erin says it was while taking a trip to
Wellington to see her sister that she saw a
poster that said simply "I'm glad you exist"
A family portrait: The Feasey-Webb family take time out together at the beach.
and it was a very powerful message to her.
On her drive back to South Taranaki she was
thinking about her idea for a book and came
up with the title Dinosaur Mac’s Discovery
(with initials DMD)
“I thought the book should not be too
detailed but be more of an enjoyable platform
for talking about this condition with young
children. I thought about the two main areas
that young kids with DMD face which are
getting tired and a lack of core strength/
balance.”
“It is meant to be heartwarming and
funny (dino tail) while being real (people) and
accurate (words like physio and paediatrician).
My aim is for this book to be given
out to all families with young
children affected by this condition
for no cost to begin with. There are
14 children aged 7 and under in NZ
with DMD, there are likely to be 4
or 5 times this many in Australia.”
Alex was diagnosed just after
his first birthday. Erin and Myles
had noticed he had low muscle
development and referred him
to a child development centre
following which they were given
the diagnosis.
Erin says that although her
son
has responded well to his
Alex Webb was
steroid-based
medication, when he
diagnosed with
first
began
taking
them, as is not
Duchenne MD at
unusual
with
steroid
treatments, he
age 1 year.
became very hungry.
“It was a hard time and we were lucky
to have a nutritionist come and advise us
on meals, times and amounts which was
invaluable. Steroids can also affect mood
swings and heighten emotions. It's hard as we
don't know what is steroids or what is being
a toddler.”
Erin says Alex captures hearts and is a
deep thinker who is a sponge for new
knowledge.
”He loves books, hugs and constructing
things. For us, finding out about Alex's
condition so early has enabled us to spend
those extra minutes enjoying watching the
small things with both of our children's
development. Special times.…….”
IN Touch // SPRING 2014// PAGE 25 Living with a condition
My life - 15 years on
and we are now using disposable circuits and
Hello, my name is Stacy Spence. I'm thirty
chamber on this.
six years old, live in Wanganui, and have
I have my trache changed every six weeks
Duchenne muscular dystrophy.
when the medical team do a home visit.
Fifteen years ago I was very unwell and
ended up in hospital. While there, it was
They also check my lungs and we discuss any
necessary to give me a tracheostomy and I
problems I may have. This is very re-assuring
became fully dependant on a ventilator. This
for me and my parents and we can't thank
meant being connected to my “machine”
them enough for their support. My life is
24/7 – this has been the best thing ever
so much better on a ventilator. I feel less
for me. While I was in hospital I agreed
tired (more oxygen in the blood). Having a
tracheostomy allows for manual suctioning
to having a feeding tube put in and an
ileostomy. It meant I spent many weeks in
hospital but have ended up with a better life
than would have been possible. I was told
Stacy Spence is 36 years old and has
Duchenne MD.
computer when I am in bed. It is a Logitech
by the doctors that after the tracheostomy
touchpad, worked really well and is easy to
operation I might not be able to eat much
use. I have very little movement in my hand
or talk again. I get most of my nutrition by
formula, through my feeding tube overnight
(which keeps me in excellent health) but can
and avoids secretions building up in my
lungs. In less than a minute my lungs can be
free of mucus while previously it would have
taken up to half an hour of physio.
In 2010 Mum and I wrote a book about
and this was the only thing that allowed me
my life to that point, My Journey with
to do this.
Duchenne Muscular Dystrophy. This was a
Over the years my medical equipment has
big task, but was really satisfying and good
eat the things I like for taste and have no
kept on improving and changing. I now have
to look back and remember the things which
difficulty being able to talk.
two ventilators, one beside the bed for night
have happened and the people who have
use and one attached to my wheelchair.
had an affect on my life.
I am very limited in the things I can do
I enjoy being able to travel within New
for myself and rely heavily on my parents
This also gives me a backup if something
to do everything for me. I can still drive my
goes wrong or when one goes for service.
Zealand and visit different parts of the
electric wheelchair to get about, both in
In August 2012 my older ventilator was
country, although we now pick the warmer
the house and outside. Three years ago my
replaced with a new model. I always knew
months for this. This allows me to make use
wheelchair control box was fitted with a
that one day I would have to face the fact
of the wheelchair accessible walks in the
device to allow me to operate my computer
that I'd be using something different but
areas we visit. Closer to home, it's always
through infrared. This replaced the standard
always hoped that my old PLV 100 could still
nice to visit the local cafes for a coffee. There
computer mouse which was really hard for
continue to keep working. When the day
are always new cafes popping up to try.
me to use. It also allows me to control the
came to change over, the transition went so
I am lucky to have a caring family and love
television, Freeview set top box, stereo, video
well that even the medical team went from
it when we get together for family occasions
and dvd player. I wish I'd had it years ago.
looking worried to having happy faces, mine
with my aunts, uncles, brother and sister. It is
included when it all went really well. At night
also really special to have time with my little
I use a humidifier connected to my ventilator
nephew, Luke.
Just a few weeks ago I thought I'd try a
wireless touch pad mouse so I could use my
DMD Pathfinders
DMD Pathfinders is a UK-based user-led charity (reg. no. 1155884), which promotes choice
and control and quality of life for teenagers and adults with Duchenne Muscular Dystrophy.
It campaigns for improved standards of health and social care and provides advice, guidance
and support to teenagers and adults with Duchenne Muscular Dystrophy on issues such as
independent living, housing, employment and welfare rights.
If you are a young man with DMD, check it out www.dmdpathfinders.org.uk
in touch // SPRING 2014 // PAGE 26
Duchenne muscular dystrophy
Transitioning into the adult world
A report that summarises the words of, social science researcher, David Abbot at the Riding the Wave
conference in Brisbane, 2012. With a special interest in issues faced by disabled children and young people,
David’s recent research explored transition issues for young men with Duchenne muscular dystrophy. His current
research looks at how best to support conversations about end of life planning with men with DMD. He also has
an interest in exploring perceptions of manhood and masculinity with young men with DMD.
The good, the bad and the ugly
“Growing Up Is Never Easy To Do”
Young adults living at home
Living arrangements – should these
is the line of a song from long ago. I
change when you become an adult? Does
sometimes think that growing up is a life-
the disabled person want to move out of a
long process and I am not sure that we
parents home? When living at home there
ever totally accomplish it. Having said that,
are fewer choices about how to live life.
there is a recognised stage of transition
Parents usually want to protect, keep their
from childhood to adulthood and a very
child happy and comfortable and sometimes
challenging time it is.
find it hard to pressure them to change any
Challenges for independence
Parents of children with a disability face
extra challenges as their child becomes
an adult with adult needs. Not only is
the child going through the individuation
process to achieve independence but the
hurdles to achieve this with a disability
are much bigger. Take transportation
for instance – to become independent a
person needs to be able to get around to
their own timetable and not rely on others
wherever possible. Perhaps this means
getting on a bus by themselves (even when
in a wheelchair), or perhaps getting one’s
own vehicle. However, getting a vehicle of
one’s own may not be within everybody’s
reach. (See your MDA Fieldworker for help
with this!)
Then there are parental expectations.
These play a huge part in how a person’s
life will turn out especially for those
with a disability. Can the teenager meet
the expectations? Does a parent expect
too much? Even more difficult are the
situations where a parent’s expectations
are very low or non-existent. How to
undesirable habits such as staying up very
late and sleeping through until the next
afternoon. It is natural when moving towards
independence to want to be in charge of
your own environment, especially with
improved life expectancies of those with life
limiting conditions. Unfortunately a desire
Bristol University, Social Science researcher
David Abbott.
Paediatric and adult health care models
for independence is not always matched by
Other things also change upon turning
support in the community and appropriate
18. The medical support a child receives is
accommodation may not not readily be
family focused, developmentally appropriate
available.
with parental involvement and a multi-
There are risks to be taken in life and
disciplinary team at the child’s disposal. Upon
transition periods seem to be one of those
transitioning to adult healthcare, however,
areas where risks need to be taken. When
the young adult will experience more patient
a person has a disability, taking a risk is
focused, investigational treatment, with
somehow more loaded and in fact there are
fewer inter-disciplinary resources which will
fewer opportunities for the disabled to take
require more autonomous, independent
risks. A person with physical disabilities often
consumer skills. It requires a positive attitude,
feels alone.
sometimes a pushy approach and someone
Further, there are issues of employment to
deal with. If possible a job should be sought
as being employed is good for your selfesteem. In fact achieving anything is good
for your self-esteem. Not to mention that
being employed often brings increased social
contact, more money and a sense of purpose.
on your side, perhaps a parent.
Start early
The advice given to parents by David
Abbott regarding transitioning young people
with physical disabilities is to start early. Every
child is different but it is good parenting to
ensure that the child become as independent
launch oneself successfully into adulthood
Generally, while still in an educational
as possible. This requires a fine balance with
when there are no expectations of the
environment, an individual’s social life may be
a disabled child, where there is the danger of
teenager becoming independent? How
reasonable, but upon leaving school, college
expecting too much independence but also
difficult it must be to live a life if no-one
or university a person without employment
of not expecting enough. Taking some risks is
around you holds goals or expectations of
becomes restricted socially with home, television
good for the child and, yes, there will be some
you achieving anything.
and computer games filling the spaces.
failures. There is for everyone.
IN Touch // SPRING 2014// PAGE 27 Living with a condition
Adults with Duchenne muscular dystrophy
– Miriam Rodrigues
In May of this year the European Neuromuscular Centre held its 206th workshop in Naarden, Netherlands.
The topic of the workshop was “Adults with Duchenne muscular dystrophy”.
functioning in a variety of activities that
are extremely important considerations. The
and first reported on the workshop at the
are associated with normal life. He lacks
Danish experience is that all adult patients
International Congress for Neuromuscular
qualifying education and he is in painful
with DMD who want to have a tracheostomy
Disorders in July 2014.
need of a love life. The frequency of
do so and over the last few years 100% have
Jes Rahbek was a workshop participant
physical pain is surprisingly high; with nearly
said yes to tracheostomy. Jes believes that
“Care for a novel generation”, that there
40% experiencing daily pain. The nature,
this is because the 16 to 18 year olds see their
was very little published about adults living
magnitude, consequence and possible cure
older friends with a tracheostomy, they see
with Duchenne muscular dystrophy. One of
of these reported pains must be scrutinised.
how well they are doing and decide to do
the few papers on this topic was published
Parents and health professionals must
the same. In Denmark there are many older
in the Journal Paediatric Rehabilitation in
anticipate that the DMD boy grows up to
patients with DMD and of 159 people with
2005 “Adult life with Duchenne muscular
manhood and will need competencies for
DMD half of them are aged between 21 to
dystrophy: observations among an emerging
adult social life in all measures and respects.”
48 years.
He commented during his presentation
and unforeseen patient population”
Jes Rahbek states that it is the adults with
As well as tracheostomies, many have
DMD who will tell us how it is to live as an
both feeding tubes and colostomies because
knowledge of adult life with Duchenne is
adult with DMD. At the ENMC workshop
it takes a very long time to eat and it can also
sparse” and profiled the physical functioning,
the input of two of the participants in
take a very long time to go to the bathroom.
social participation and quality of life of 65
particular was highly valued as they were
Constipation is a problem because dystrophin
adult Danish DMD patients aged between
men with DMD. The workshop report
is absent from the smooth muscle of the gut
18 and 42 years of age. The authors found
will be published at a future date and will
so having a colostomy makes things quicker
that “the ordinary adult DMD patient states
include a recommendation to provide
and easier.
his quality of life as excellent; he is worried
guidelines to care for adults with DMD. The
neither about his disease nor about the
suggested guidelines are likely to include
movement in two fingers means you can be
future. His assessment of income, hours
recommendations for the organisation of
in contact with the world through computers
of personal assistance, housing, years
health services for adults with DMD, which
and the internet so it is important that boys
spent in school and ability to participate
ideally will be centralised so the expertise
and young men with DMD receive a good
in desired activities are positive. Despite
in caring for men with DMD can be
education and consider tertiary education as
heavy immobilisation, he is still capable of
strengthened. Ventilation and cardiac care
well as suitable careers.
The paper also acknowledged that “the
Thanks to modern technologies
International study reveals significant hidden costs
TREAT NMD are pleased to announce
with patient registries for DMD in Germany,
the publication of ‘The Burden of Duchenne
Italy, the UK and the United States. Funded
muscular dystrophy' international study.
by GlaxoSmithKline, the aim of the study was
In the first international study of its kind,
researchers have found that there are many
employment, leisure time and quality of life.
Professor Kate Bushby, co-author of the
to estimate the total cost of illness and the
study and one of the founding co-ordinators
economic burden of DMD.
of the TREAT-NMD Network, said: “Rare
diseases are massively underfunded generally
different costs accompanying Duchenne
The national DMD registries from the
muscular dystrophy (DMD) and that there
global TREAT-NMD network helped identify
and the cost to society is often hidden
is a considerable financial burden carried by
the patients with DMD in Germany, Italy, UK,
as so many costs are borne by the family
affected families.
and USA. Researchers asked 770 patients
themselves. Our figures show that DMD
and their primary caregivers in Germany
imposes a severe economic burden on the
Neurology, and freely available via the
(173), Italy (122), the UK (191) and the USA
family and friends of affected people, as well
TREAT NMD website, was led by Newcastle
(284) to complete a questionnaire on their
as society as a whole. It is essential that more
University (UK) and the Karolinska Institute
experience of living with DMD and the impact
money is spent trying to find ways of easing
(Sweden) and carried out in collaboration
this had on the need to access medical care,
this burden on patients and families.”
The research, published in the journal
in touch // SPRING 2014 // PAGE 28
Research and relevance
Funding secured for study to determine prevalence
impact of genetic muscle disorders in NZ
Researchers at Auckland University of Technology, in partnership with the MDA, have received Health Research
Council of New Zealand funding of $1.2m over three years to conduct a study into how many people are
affected by genetic muscle disorders (GMDs) in New Zealand.
Genetic muscle disorders are the most
financial costs of having a GMD including
common form of neuromuscular disorder
people needing to take time off work due to
and encompass both myopathies and
symptoms or to provide care.”
muscular dystrophies. Caused by genetic
Alice says once those (of all ages) who are
mutations or changes in the muscle, muscle
affected are identified, the researchers will
membrane or supporting proteins, GMDs are
invite people to take part in an assessment
characterised by weakness and degeneration
of how their condition affects them and their
of the muscles. There is extensive diversity in
significant others. The assessment will be
how people adjust to living with GMD and
designed so that it can be done in-person at
access to support and services also varies
an individual’s place of residence, over the
considerably across New Zealand.
It is unclear how many people have a GMD
in NZ and there is concern that known
The study’s principal researcher, AUT's Dr
Alice Theadom. alice.theadom@aut.ac.nz
phone or (for some of the questionnaires)
self-completed. People will have the option
of having support people with them during
international figures may be underestimating
delivery of services, to meet peoples’ needs
the assessment if they wish. All information
the problem. The primary purpose of the AUT
and optimise how treatment resources are
will remain confidential within the study team
study, therefore, is to determine the number
allocated.
and no one will be able to be identified in
of individuals in New Zealand with a GMD,
“We will explore the impact GMD has on
any report arising from the study. The study
and who and how people are affected. The
people’s lives and those around them, finding
will begin in April 2015, and ethics approval is
study’s principal researcher, AUT's Dr Alice
out about the support people currently receive
currently being sought.
Theadom, says she expects knowledge gained
and identifying unmet needs in current service
Additional information will be available in
from the study will enable better planning and
provision. We will also calculate the hidden
January 2015 for those who wish to take part.
........RESEARCH BITES
than usual will reduce the number of
expression profiling, and quality of life of
unexpected hospitalisations and increase life
infantile onset facioscapulohumeral muscular
Myotonic dystrophy Type 1
expectancy. Evidence gathered during this
dystrophy (FSHD). FSHD is usually an adult
Isis Pharmaceuticals announced the
trial may lead to changes to the standards
onset condition but rarely it presents in a
identification of a drug development
of care for people with myotonic dystrophy
severe form in infants. The purpose of this
candidate, ISIS-DMPKRx, designed to treat
which could provide them with significant
study is to better understand this form of
myotonic dystrophy type 1 (DM1), which
health benefits. The trial may show that
FSHD, including the signs and symptoms
they plan to advance into human clinical
early introduction of ventilation reduces
and their impact on quality of life. The
trials next year. Isis' DM1 antisense program
the number of unexpected hospitalisation
study also aims to establish a standardised
is being developed to correct the underlying
that patients need and could lead to
way of assessing the condition that may
genetic defect that causes DM1. http://
fewer patients needing to undergo a
be used in future treatment studies.
myotonic.org/isis-clinical-trial-update
tracheostomy. Help with breathing at night
Finally, this study will explore biological
may also improve quality and length of life.
variations in individuals that may affect
France is looking at the Effectiveness of
Visit http://www.clinicaltrials.gov/show/
their clinical symptoms. This study will
early introduction of night time ventilation
NCT01225614
include one study visit, with the possibility
in patients with myotonic dystrophy type 1.
Infantile facsioscapulohumeral muscular
of a second study visit within 30 days if
The aim is to determine if introducing the
dystrophy.
all assessments could not be completed
use of night time ventilation in patients
Multiple centres are undertaking a
initially. Visit http://clinicaltrials.gov/ct2/show/
with myotonic dystrophy type 1 earlier
collaborative study on the clinical features,
NCT01437345?term=FSHD&rank=2
Centre of Neuromuscular Disease, Paris,
IN Touch // SPRING 2014// PAGE 29 Research and relevance
ReWalk Personal Exoskeleton System approved for
home use in US
Exoskeleton leader ReWalk Robotics announced in June that the US Food and Drug Administration (FDA) had
cleared the company's ReWalk Personal System for use at home and in the community, thereby giving hope to
those no longer able to walk unassisted.
ReWalk is a wearable robotic exoskeleton
muscle mass, and improved bowel function.
that provides user-initiated mobility through
Feedback from ReWalk users supports these
the integration of a wearable brace support,
potential benefits and others, such as better
a computer-based control system and motion
pain management, fewer medications, and
sensors. The system allows independent,
potentially reduced hospitalisations.
controlled walking while mimicking the
The ReWalk Rehabilitation system is used
natural gait patterns of the legs, similar to
in the clinical rehabilitation environment,
that of an able-bodied person. In addition to
where it provides a valuable means of exercise
the ability to stand and walk independently,
and therapy as well as a training base for
clinical studies of the ReWalk Rehabilitation
individuals to be certified, enabling them to
system show significant health benefits
purchase a Personal system.
to the user, on both a physiological and
psychological level.
Initially developed to enable those with
Jeff Dykan, ReWalk's Chairman of the
Board says the benefits go far beyond just
being able to walk again. "ReWalk provides
spinal cord injuries to walk again, ReWalk
paralysed individuals with the ability to stand
has been through rigorous FDA clearance
and walk, to look someone in the eye, to
processes that involved multiple clinical studies
hug and be hugged. These are simple acts
available to consumers in the US upon
demonstrating safety and effectiveness of the
which many of our ReWalkers thought they
meeting requirements from a medical
technology.
would never be able to do again," he added.
examination and successful completion of the
"When you take that into account in addition
required training program. It is not known
potential improvements in cardiovascular
to the health benefits, it underscores just
when the system might be available to those
health, loss of fat tissue, building of lean
how monumental a day this is for the SCI
outside of the US.
Study data of the ReWalk system indicates
community here in the US."
The ReWalk Personal System is currently
The International Congress on Neuromuscular
Diseases (ICNMD) is the regular meeting
of the Research Group on Neuromuscular
Diseases-World Federation of Neurology
(RGNMD-WFN) hosted all around the world as
a 4 yearly event for more than 50 years.
that due to the rapid developments in the
Zealand” was already reprinted in a recent
neuromuscular community as the most
field the meeting will now be held every
edition of In Touch, another poster illustrated
important forum and the unique opportunity
two years, with the 2016 XIV ICNMD to be
the service provided to people living with
to share scientific advances by those
held in Toronto, Canada. Miriam Rodrigues,
a neuromuscular condition by the MDA
involved in the fields of improving care,
supported by the NRFT, was one of two New
NZ fieldwork service and the third poster
understanding disease pathogenesis,
Zealanders who attended the meeting in
outlined the patient's experience of receiving
and developing innovative treatments in
Nice. She presented three posters of work in
a diagnosis of myotonic dystrophy and how
muscle, neuromuscular junction, peripheral
the neuromuscular field being undertaken
that compares to another neurodegenerative
neuropathies and motor neuron diseases.
in New Zealand, all of which were well-
condition, Huntington’s disease.
At the conclusion of the recent XIII ICNMD
received. One poster “The rate of molecular
in July in Nice, France it was announced
diagnosis in neuromuscular disorders in New
It is firmly established by the global
in touch // SPRING 2014 // PAGE 30
See the report on page 28 for more from
ICNMDXIII.
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ROPOX – ALL-IN-ONE HOIST
IN Touch // SPRING 2014// PAGE 31 We’ve got our Mojo
working - By Joseph Boon
Nearly three years since being elected to Parliament, New Zealand’s first deaf MP, Mojo Mathers, is changing
attitudes both inside and outside politics.
Mojo chats comfortably on the couch of
various people have with casting a vote
her office on the fourteenth floor of Bowen
independently. When she was speaking in one
House (on Lampton Quay). The Beehive sits
of the debates a National Party MP interjected
squat in the middle of the view from the
saying, “My mother is deaf and she’s going to
window behind her – a sturdy reminder of
have someone come in with her so what’s the
the close proximity of power. Engaging and
problem?” enthusiastic, Mojo is direct, lip-reading with
“That is the problem!” says Mojo. An
consummate skill. Referring to her as the
independent vote by secret ballot is vital to the
‘standard bearer’ of the disabled community,
integrity of a democracy, because it ensures
Mojo concedes that her entrance to
the wielders of power are held to account.
Parliament was “quite powerful symbolically,
The clumsy nature of election law means that
but I do feel daunted [at times] to be honest.”
one has to be fully or partially blind to qualify
Not to be pigeonholed to a single issue,
for the use of special devices in order to vote.
Mojo is the Green Party spokesperson for
animal welfare, as well as disability affairs,
and she took the government to task over
animal testing for psychoactive substances
long before the issue dominated the media.
Water pollution and animal rights sparked her
political interest, and disability issues fanned
the flame. “After a number of years of being
Green Party MP, Mojo Mathers
see him better and in fact I hardly needed
my note-takers at all because he was close
enough for me to lip read.”
Mojo thanked him afterwards and he said
it seemed the “obvious thing to do, and I
hope that all of Cabinet will do that.”
involved politically in these areas, what I kept
It’s a vindication of the fact that disability
coming up against was the reality of being a
support is often about changing attitudes and
deaf person involved politically.”
behaviour rather than lots of money.
In her maiden speech Mojo said that she
The 2013 Disability Survey (published by
MPs have a punishing schedule, and weeks
when the house is sitting are very busy. For
example, today is Tuesday and Mojo comes
into the office at 8am, there is a full caucus
meeting from 10am till 1pm, question time
in the house starts at 2pm, the house rises
at 6pm for the dinner break, when there
are typically more meetings in the office
(including this interview), then resumes sitting
from 7.30pm till 10pm.
“Then I walk home”, she says pointing out
the window towards her flat near Parliament
would have to “find ways of getting around
Statistics NZ) puts the number of kiwis with a
buildings. Her home base is Christchurch,
the barriers posed by being deaf.” In order to
physical, intellectual, or mental disability at 1.1
but like many MPs, Mojo keeps a bolt-hole in
participate in the house (debating chamber),
million. Says Mathers:
Wellington. “It’s the only bit of exercise I get
two people are employed to watch Parliament
“Part of the problem is it is such a
TV live from the 16th floor of Bowen House
large group, but they aren’t represented
and type what is being said. The transcript is
proportionately in Parliament.”
sent in real time to a screen set up in front of
When the people making decisions can’t
on sitting days”, she says with a laugh.
As a member of the select committee on
Government Administration, Mojo has been
part of its Inquiry in to the Accessibility of
Mathers, and she can follow the proceedings.
empathise it is unsurprising that disability
services to Parliament, the report for which
The system is not quite perfect. However,
problems get pushed aside.
was published in June. Among a range of
there have been instances when other MPs
“So many issues come up that will have
have changed their own behaviour to help
a negative impact on disabled people often
provisions be made for the live captioning of
her.
simply because parliamentarians and policy
Parliament TV, which was trialled in 2012 and
makers haven’t even thought about them.
may be introduced early in the next term. This
was to [Health Minister] Tony Ryall, and I
They don’t always think [things] through, or
is a major step forward and would bring New
remember coming into the house and seeing
they have got these inherent assumptions that
Zealand in line with the parliaments of the UK
that [he] wasn’t sitting where he normally
[disabled people] have to actually question
and Canada.
did, he had actually moved right around to be
upfront.”
“The first question I asked in the house
measures, the report recommends that
As always though the political seas are
as close [to me] as he could get. The penny
The Electoral Amendment Bill 2013 is a
tempestuous and MPs have to take the rough
dropped that he had moved there so I could
case in point. It did not address the problems
with the smooth. In March this year Mojo was
in touch // SPRING 2014 // PAGE 32
criticised by the Taxpayers Union for travelling
to feel neglected because you’re out of the
employed in the public sector. As the
from Christchurch to the Wairarapa in order
way of the mainstream politicians, and even
system grows to reflect the diversity of the
to be interviewed on a local access radio
more so if you’ve got a disability”, says Mojo.
population – it will have to adapt. Laws will
station. Their show was called Wheels on
Sometimes the spotlight of the press focuses
be reformed, attitudes will change, and as
Fire, on the subject of disabilities. The Union
on unexpected things, and it can be terrifying.
Mojo says, we will “create a level playing field
said the cost of the trip (about $550) and
for all New Zealanders.”
To young kiwis with disabilities who
Whatever happens on September 20, a
the smallness of the audience meant it was a
are seeking a career in politics, Mojo is
misuse of taxpayer’s money. It looked like a
emphatically encouraging. But she also has
ranking of 9 on the Green Party list gives
Parliamentary expenses scandal could engulf
some sage advice:
good assurance that the ‘standard bearer of
the Green MP.
disability affairs’ will be back next term. Even
“You need to build a network in whichever
party you are in; have good [personal] support
if the government doesn’t change, or the
a life of its own, and the public were basically
networks, and you need to have resilience,
average representation of disabled people
on my side. They could see instantly that
because it’s tough – it’s incredibly tough – for
in Parliament doesn’t increase, the vital
this was just me doing my work and actually
anyone, but particularly disabled people.”
cause will be advanced. We’ve got our Mojo
“On social media it [the story] just took on
going out of my way to reach a rural area.
I’ve lived in a rural area, I know what it’s like
working.
“Greater representation in Parliament is
a must, as is getting more disabled people
Getting a genetic diagnosis
Miriam Rodrigues
Curator
The NZ Neuromuscular
Disease Registry
Are you one of the many clinically
diagnosed with a neuromuscular condition
but without a genetic diagnosis? The NZ
NMD Registry is interested in enrolling both
children and adults who have a neuromuscular
condition even though they may not have a
genetic test result. A review carried out last
Distribution of molecular test results confirming clinical diagnosis
(inner ring) vs clinical diagnosis only (outer ring)
year, and soon to be published, of the rates
of genetic diagnosis among those enrolled
on the NZ NMD Registry showed that nearly
half do not have a genetic test result. This is
15
do something about and you will read more
So, why is it important to have a genetic
68
8 8
53
Myotonic dystrophy type 1
8
22
17
6
Spinal muscular atrophy
42
reasons; a genetic test result confirms the
32
8
3 12
12
33
sometimes unpleasant or costly investigations
that seek to find the cause of the condition.
Myotonic dystrophy type 2
1
test result? There are at least five good
clinical diagnosis and can mean an end to
Facioscapulohumeral muscular dystrophy
Limb girdle muscular dystrophy
18
about our plans for addressing the low rates
Touch.
Becker muscular dystrophy
Duchenne muscular dystrophy
40
something the NZ NMD Registry is keen to
of genetic diagnosis in future issues of In
Other myopathies. Each type represented
by <10 patients in the registry
3 8 2
12
25
It can better inform the prognosis (the likely
Charcot-Marie-Tooth disease
Spinocerebellar ataxia
Friedreich ataxia
Hereditary spastic paraparesis
course of the disease) as well as provide
If you are interested in learning more
information that may be useful for family
page 37 of this edition for more on this topic.
planning. It can also enable participation
Importantly, it can also provide a sense of
about the NZ NMD Registry please contact
in research, especially when the research
closure because with the genetic test result
an MDA Fieldworker, visit the website www.
strategy is reliant on a condition being caused
the cause of the condition is truly confirmed
mda.org.nz/what-we-do/nz-neuromuscular-
by a particular type of genetic problem –
and any worries about what or who might
disease-registry or email the Registry Curator
please read Richard Roxburgh’s column on
have caused it can be laid to rest.
registry@mda.org.nz
IN Touch // SPRING 2014// PAGE 33 At ease
Ben Robertson shares his views on
life, opportunity and finding peace
The importance of role models
and causing a lot of trouble while he has
amputated following a ride-on-mower
Oscar Pistorius case, and we will know if he is
been drunk. This has been described as ‘self
accident when she was two but has had
guilty or not on the 8th of August. He faces
harming’ behaviour by his family and may
excellent success at an international level –
25 years to life if he is found to be guilty. The
even point to him being guilty. The publicity
proving that disability is no limit to success.
trial, which lasted four months, has examined
has not been good for someone I previously
what his intention was – he claims that he
regarded as an icon for the disabled
representations of disability like this. It is
thought it was an intruder that he shot but
community.
all too easy for disability to be completely
Closing arguments have been heard in the
the prosecution says he knew that it was his
On a positive note, at the commonwealth
It is very important to have positive
ignored or portrayed in a stereotypical way.
girlfriend. Another factor in the case is his
games opening ceremony one of the
Neither of these options are good for our
mental state, with claims coming from his
people that brought out the flag was in a
community because they reinforce our limits.
defence of his ‘weakened mental state’.
wheelchair. We are beginning to see real
Oftentimes people learn how to behave
Personally I think that he is guilty. It just
inclusion for those of us with disabilities and
from television and therefore seeing disabled
doesn’t make sense to fire a gun at someone
gone are the days where we simply say ‘it’s
athletes alongside other people to look up
behind a closed door. Add to that the fact
too hard’. Also New Zealand athlete Sophie
to is of invaluable importance. We are seeing
that the couple were arguing beforehand
Pascoe won gold in the 100m breaststroke.
the beginning of a change in attitude and
and his reputation as a ‘loose cannon’ and
This is a remarkable achievement for
this can only lead to positive developments
his defence is pretty weak. His behaviour of
someone with a disability and goes to show
for the disabled community.
late hasn’t been good either - it has been
that there is little reason that we cannot
reported that he has been getting into fights
be included. Sophie had one of her legs
s
Letter
Bunnings recently built store in Albany
I am the caregiver to my wife who has
swing door on a strong spring arm
M.D. and who, after a bad fall last year, uses
which makes it very hard to enter or
is excellent; their toilet is a joy to behold.
a wheelchair when out shopping. This has
exit.
Westfield shopping centres are the same. In
The area inside is too small. By the
other words, Australian standards are well
facilities. I am afraid to say the majority of
time you have entered inside with
ahead of ours. When I brought this to the
public toilets do not work well for us. I realise
a caregiver and a wheelchair or
attention of our Whangarei Council they
that all disability toilets cannot support the
scooter, there is little or no room
were quite alarmed that we were having
needs for everyone, but there should be a
to close a door behind, let alone
difficulty in accessing their toilets and
standard set so that the majority can access
manoeuver the scooter/wheelchair
admitted that they left it to the architects.
made me very aware of finding suitable toilet
2.
and turn it around to exit.
and use them adequately...after all, that is
what disability toilets are all about ... for the
3.
disabled.
Most Councils in NZ when designing new
height – that is approx 390 cm and are too
the disability toilet IN THE LADIES
low. There are pans made 450 cm high
TOILET, he runs the risk of being
which are easier to lift off.
ridiculed by the other women in there.
toilets do not have a NZ standard guideline
Most disability toilet pans are a standard
When a male caregiver has to access
We need the support from the Muscular
when designing them. They normally present
The way I see it they should have:
Dystrophy Association and others to
the problem to an architect to go ahead
•
Sliding doors
standardise proven guidelines that work for
with the plans, but unfortunately they do
•
Bigger room size
the majority of people who are unfortunate
not consult with the disabled themselves to
•
Wider corridor size (for wheelchairs
to have a disability.
and scooter access)
understand their needs. The issue with most
disability toilets are:
1.
Trying to access with an electric
scooter or wheelchair – most have a
in touch // SPRING 2014 // PAGE 34
•
Entry points on ground level
•
Separate disability toilets for either
males/ females
Yours faithfully
John and Barbara Reckin
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 17 amd 18
In this series, as we continue through the different articles of the UN Convention on the Rights if
Persons with Disabilities (UNCRPD), we have covered a lot about our rights and I hope it is helping
you to gain a greater understanding of how the Convention can change our lives.
Article 17 - Protecting the
integrity of the person
residence and to a nationality, on an equal
right to acquire a nationality and, as far as
basis with others, including by ensuring that
possible, the right to know and be cared for
Article 17 is simply saying we have the right
persons with disabilities:
by their parents.
to be respected as equal to everyone else.
a.Have the right to acquire and change a
1. In summary, we have the right to be
It says: Article 17 - Protecting the integrity
nationality and are not deprived of their
equal to everyone else as it says in Article
of the person. Every person with disabilities
nationality arbitrarily or on the basis of
17 and we are citizens who can freely
has a right to respect for his or her physical
disability
choose where we live and how we live
and mental integrity on an equal basis with
others.
b.Are not deprived, on the basis of disability,
as New Zealanders. Next time I will write
of their ability to obtain, possess and
about article 19…In the meantime if
utilize documentation of their nationality
you have any worries contact either your
Article 18 - Liberty of movement
and nationality
or other documentation of identification,
local community law centre, or Auckland
or to utilize relevant processes such as
Disability Law, your citizens Advice Bureau
Article 18 goes a step further and is about
immigration proceedings, that may be
or if your issues is health and disability
our right to be citizens of New Zealand,
needed to facilitate exercise of the right to
related, then the Health and Disability
that from the moment we are born we are
liberty of movement
Commission. If you want to know more
legal citizens and that we have the freedom
to choose where we live and how we live.
No one can interfere with this right. It
c.Are free to leave any country, including
their own
d.Are not deprived, arbitrarily or on the basis
reads: Article 18 - Liberty of movement and
of disability, of the right to enter their own
nationality.
country
1. States Parties shall recognize the rights
of persons with disabilities to liberty of
movement, to freedom to choose their
2. Children with disabilities shall be
about advocacy then the Disabled
Persons Assembly can help with disability
advocacy.
e
k
c
i
H
a
n
Dr Huha
y
registered immediately after birth and shall
have the right from birth to a name, the
EXCITING NEWS!: The Be. Movement has announced that
recruitment for the 2015 Be. Leadership programme has begun.
2015 will be its fifth year running the 12-month programme,
which promotes a cohesive social change and accessibilityfocused leadership community.
This year, Be. wants to target a wider range of the diversity of
the access community.
You can register your interest on the Be. Website http://www.beaccessible.org.nz/be-leadership
GenY ine issue
I’m writing this article as I look out my window on a rainy
day in Wellington. Yes, I’m finally back home in New Zealand
after a year studying abroad in Los Angeles, and what a year
it was!
Filled with weekend trips to Disneyland, holidays to New
York and American sororities, it’s always hard to choose
what my favourite part of the trip was when people ask.
What always comes to mind first is the friends that I
have made. There was no experience more amazing than
meeting my best friends in a place that I entered a year ago
not knowing anyone. Now I have my future bridesmaids in a
And secondly, I got hugely discounted fares. One afternoon
group of girls that I know will always be there for me.
I travelled two hours and took two separate buses to get to
But one other thing America gave me, which I never
appreciated until I returned to New Zealand, was a huge
the beach and it only cost me 50 cents!
Don’t get me wrong, I’m so happy to be home and able
sense of independence. In New Zealand I had always been
to see my family. But I don’t just miss my friends, I also miss
independent, however in Los Angeles I truly felt like the
the adventure of Los Angeles.
whole world was at my feet.
Looking back choosing to move to the other side of the
The city is so big and exciting you could spend years
world, where I knew nobody, was the best thing I’ve ever
exploring all the suburbs of Los Angeles and still not have
done. It seemed scary as I was boarding the plane a year
scratched the surface. But I certainly tried to see as much
ago, but as soon as I stepped off the plane it became a year
as I could, taking buses and trains around the city with my
full of incredible adventures I never would have experienced
friends and even by myself. All of the public transport was
if I hadn’t been brave enough to take the risk.
wheelchair accessible and it was amazing knowing that I
could go anywhere at any time in my wheelchair.
Instead of worrying whether the buses were even
accessible and wishing I could simply go up the stairs, like
I did in New Zealand, I was actually grateful to have my
wheelchair on buses in Los Angeles.
Firstly, because I’d always get a good spot right up the
front of the bus and I’d have a good view of the city as we
drove past. So that my wheelchair could easily fit, the driver
would move people out of the front seats. I felt like a VIP!
in touch // SPRING 2014 // PAGE 36
Taking the underground subway with my best friend at
midnight after we got lost. Watching the Ferris wheel on the
Santa Monica Pier with my friends. Seeing the fireworks at
Disneyland while it poured with rain.
The risk was definitely worth it, because those are the
adventures I’ll remember for a lifetime.
Stacey Christie,
MDA Young (Rangatahi) Representative
A neurologist’s
knowledge
Many patients who come to my clinic have been
followed up by neurologists for years and have only
just had a formal diagnosis of their neurogenetic
condition or it is only made in our clinic. The length
of time it takes to make a diagnosis is a cause of
frustration to patients. So why does it happen?
I remember at medical school in the 1980s how excited the
short and missing some of the critical functional bits. The cells see
neurologists were that they could now look at muscles under a
these useless bits of half-made dystrophin and destroy them; so the
microscope and use special stains to look for the protein dystrophin
muscle cells don’t have dystrophin and they get sick. However, some
in the muscle biopsies of patients with muscular dystrophy to
years ago scientists noticed that sometimes in a muscle biopsy of a
confirm the diagnosis of Duchenne or Becker muscular dystrophy.
person with Duchenne muscular dystrophy there were occasional
fibres which stained positive for dystrophin. To cut a long story
short, it’s been shown that for some reason the cell machinery has
ignored the stop sign in this cell and makes dystrophin anyway.
That made scientists think: if the cell can read through stop signs
naturally, is there a way that we coax the cells, with drugs, to read
through them even more?
A whole host of drugs have been screened and some drugs have
been found including gentamicin (a reasonably commonly used
PICTURED ABOVE Muscle biopsy images showing (LEFT) normal
dystrophin staining around the rim of muscle fibres and (Right)
Muscle biopsy staining showing existence of Duchenne MD with
only one “revertant” fibre with dystrophin staining.
Images sourced from http://neuromuscular.wustl.edu/pathol/
dmdpath.htm
antibiotic - sadly quite toxic to the balance organs in the ears and so
not appropriate for long term use) but more recently a drug called
Ataluren. Currently there are trials with this drug which have been
completed and other trials are underway at this moment.
You can see from this that because different patients have
different genetic abnormalities, some patients will benefit from
these drugs (if indeed they work) and that for others they never will
It seems extraordinary now that was still before the gene for the
condition was found.
(they don’t have the false stop signals). Thus the age of personalised
genetic medicine is upon us.
In the last few years genetic diagnoses have become more
and more efficient and reliable and usually a muscle biopsy is not
necessary nowadays because we can get a result from DNA taken
from a blood or saliva sample. We see different patterns of what
can go wrong with a gene to cause the disease.
Most commonly, whole bits of the gene (called exons) can be
missing and I’ll touch on how that could be treated in the next issue
of In Touch. This month I want to talk about the minority of patients
who instead have single letter spelling mistakes.
To explain this there is a technical thing I think it’s useful to
Richard Roxburgh FRACP PhD
Consultant Neurologist
Neurogenetics Service
Auckland City Hospital
understand: the genetic code is made up of three letter words,
using an alphabet comprising of just four letters.
Each word codes for a specific protein building block and there
are some words that tell the cell machinery to stop, the machinery
is now at the end of the gene. Now, what can happen in patients
who have Duchenne is that a single letter spelling mistake changes
one of the words, which normally tells the cell machinery to make
a particular protein component into one of the words, which tells
the cell machinery to stop. As a result the dystrophin protein is
IN Touch // SPRING 2014// PAGE 37 CONDITIONS COVERED BY MDA
MUSCULAR DYSTROPHIES:
• Duchenne Muscular Dystrophy
DISEASES OF THE MOTOR
NEURONS:
• Spinal Muscular Atrophy - DISEASES OF THE
NEUROMUSCULAR
JUNCTION:
• Becker Muscular Dystrophy
all types including Type • Myasthenia Gravis
• Manifesting carrier of 1 Infantile Progressive • Lambert-Eaton Syndrome
Muscular Dystrophy
Spinal Muscular Atrophy • Congenital Myasthenic
• Emery-Dreifuss Muscular
(also known as Werdnig Dystrophy
• Limb-Girdle Muscular Dystrophy
• Facioscapulohumeral Hoffman Disease)
• Type 2 Intermediate Spinal
Muscular Atrophy
• Type 3 Juvenile Spinal Muscular Dystrophy
Muscular Atrophy • Myotonic Dystrophy
(Kugelberg Welander • Oculopharyngeal Muscular
Disease)
Dystrophy
• Distal Muscular Dystrophy
• Congenital Muscular • Type 4 Adult Spinal Muscular Atrophy
• Spinal Bulbar Muscular Dystrophies and Congenital Atrophy (Kennedy’s Disease Myopathies
and X-Linked SBMA)
METABOLIC DISEASES OF MUSCLE
- all types including:
DISEASES OF PERIPHERAL NERVE:
• Phosphorylase Deficiency (also
Disease (CMT) (Hereditary known as McArdle’s Disease)
• Acid Maltase Deficiency (also
known as Pompe’s Disease)
• Phosphofructokinase Deficiency (also known as Tarui’s Disease)
• Debrancher Enzyme • Charcot-Marie-Tooth
Motor and Sensory
Neuropathy) - all types
• Dejerine-Sottas Disease (CMT Type 3)
• Hereditary Sensory Neuropathy
Deficiency (also known as INFLAMMATORY MYOPATHIES:
Cori’s or Forbes’ Disease)
• Dermatomyositis
• Mitochondrial
Myopathy(including MELAS,
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)
• CANVAS
HEREDITARY SPASTIC
PARAPLEGIAS - all types - (HSP)
(also called Familial Spastic
Paraparesis)
LEUCODYSTROPHIES - all types
• Polymyositis
• Inclusion Body Myositis
MERRF, NARP and MIDD)
PHAKOMATOSES
(conditions affecting the brain and
the skin)
• Neurofibromatosis Type 1
Should you have a query regarding a condition not listed please contact Jayne on (09) 815 0247,
0800 800 337 or email Jayne@mda.org.nz
in touch // SPRING 2014 // PAGE 38
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IN Touch // SPRING 2014// PAGE 39 It might be you .....
or a family member, a neighbour or a friend.
It could be a wee baby, or a retiree, it 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 are unique and help
them to live their life to its fullest
You can help by
• Telling family members affected by a
neuromuscular condition about us
• Supporting our fundraising efforts
PO Box 12063, Penrose, 1642, Auckland Ph 09 815 0247 / 0800 800 337 www.mda.org.nz