Autumn 2015 In Touch - Muscular Dystrophy Association of New

Transcription

For people living with neuromuscular conditions
Mō te hunga whai oranga i te mānuka-uaua
InTouch
Kia Noho Tata // Autumn 2015 // Volume 86
Huge gains
had from
extending
boundaries
Chris' Outward Bound experience
Go Baby Go vehicles for MDA children
Campaign promoting Be.ing Welcome
Generous vehicle donation a gift of freedom
And Much more .....
IN Touch // AUTUMN 2015// PAGE 1 Muscular Dystrophy Association would like to thank the following sponsors and supporters
The Richdale
Charitable Trust
Also thanks to the ANZ Staff Foundation, the Rehabilitation Welfare Trust, the ARA Lodge No 348 IC Charitable
Trust, the Clyde Graham Trust, NZ Post Community Post and the Independent Living Service for their continuing
support.
InTouch
Contents
The Official Journal of Muscular Dystrophy Association of NZ Inc. // Kia Noho Tata // Autumn 2015 edition // Volume 86
Out and about
06
Huge gains had from extending boundaries
PO Box 12063, Penrose,
Auckland 1642, New Zealand.
07
GoBabyGo vehicles to go to two lucky MDA children 08
Translarna™ trial participants
Freephone 0800 800 337
NZ Phone: (09) 815 0247
International prefix (00649)
Fax: (09) 815 7260
10
Generous vehicle donation a gift of ‘freedom’
11
12
Nicholas Brockelbank makes Attitude Awards finals
Editor: Kimberley Cameron
Email: [email protected]
Phone: 09 232 1265
MDA news
Contributions:
We welcome contributions, comments
and letters to the editor. We thank all
contributors to this edition.
Deadline for next issue:
Friday 24th April 2015
Subscriptions: In Touch is available free
to people with neuromuscular conditions,
their families, health and education
professionals and other interested people.
Advertising: In Touch welcomes
advertisements concerning products
and services of relevance to people with
disabilities. For a rate card, please contact
the editor.
Printer: NZ Post
Ph: 09 271 8420
www.converga.co.nz
The opinions and views expressed in this
magazine are not necessarily those of
Muscular Dystrophy Association.
All material in this magazine is copyright.
You must therefore contact the editor for
permission before copying or reproducing
any of it.
Charities Commission Registration:
CC31123
ISSN 1179-2116
14
From the Chief Executive
15
From the Chairperson
16
Life Without Limits conference
17
World Disability Day wheelchair world record
19
Friedreich ataxia (FA) working group update
Your condition in review
20
Congenital muscular dystrophy
24
Living with congenital muscular dystrophy
Research and relevance
26
Potential therapy for incurable Charcot-Marie-Tooth disease
26
Phase 1 trials for Congenital MD drug treatment starting soon
27
Heart failure drugs shown to slow heart decline in Duchenne
28
Proof of concept in Charcot-Marie-Tooth Disease Type 1A
In your words
31
Legally mindful - Dr Huhana Hickey
32
In honour of Jim Pollack - Joe Boon
33
NMD Registry - Post marketing surveillance
35
Facing mortality-the ultimate challenge
37
A neurologist’s knowledge - Dr Richard Roxburgh
The production of this
magazine is generously
supported by
The Lion Foundation.
Muscular Dystrophy Association
CORE SERVICES:
The Muscular Dystrophy Association of New Zealand is the leading provider of support for people with degenerative muscle wasting
conditions (including MD and other neuromuscular conditions) and provides the following free core services:
• Supports the provision of a national Fieldwork service
• Provides specialist information and advice
• Campaigns to raise awareness and bring about change
We rely almost entirely on voluntary donations. The funds raised help the MDA to continue our vital work.
VITAL WORK:
• Practical workshops
• Nationwide support network to connect members
• Confidential nationwide counselling service
CHIEF EXECUTIVE
Chris Higgins
INFORMATION AND
RESOURCE MANAGER
Jayne McLean
• Promotion and education of muscular dystrophy and other neuromuscular
conditions
• Advocacy (lobbying) on behalf of members to increase the services being
offered by local DHBs, access to public buildings and lifesaving equipment
• Working with health, disability and social welfare organisations
• Specialist condition and condition related information and resources
MARKETING MANAGER
Penelope Craw
PROGRAMME AND
SERVICE ADVISOR
Miriam Rodrigues
• Informative website full of detailed information and resources
• Individual assistance with funding applications
• Working with schools, medical professionals, carers and other interested parties
to better support individuals with neuromuscular conditions
• Publication of a quarterly members magazine “In Touch”
• Library service
• Funding research projects which benefit our members through the
National Service
Leader Melanie Hopley
GRANTS FUNDRAISER
Kate Longmuir
Neuromuscular Research Foundation Trust
• Neuromuscular Disease Registry, which enables kiwis with neuromuscular
conditions to participate in international clinical trials for new therapies and
treatments
• MDA Conference, which brings together leaders in neuromuscular conditions
and others of interest to our members to share insight and learnings
• Neuromuscular Disease Registry which enables Kiwis with neuromuscular
Membership and
marketing assistant
Chris Light
ACCOUNTS AND
ADMIN ASSISTANT
Olisia Sparey
conditions to participate and benefit from international clinical trials of new
therapies and treatments.
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 [email protected]
in touch // AUTUMN 2015 // PAGE 4
from the editor
Hi everyone,
In reviewing the contents of this edition, a central theme
physical limitations presented by
stands out that shines a light on the high levels of commitment
congenital muscular dystrophy
those in the MDA community have towards being better, more
and their efforts to assist Jack in
capable individuals. This theme also carries through to those in the
living a happy, fulfilling life.
neuromuscular community in professional and other support roles
who dedicate large parts of their lives to assisting those affected by
neuromuscular conditions. This theme, of course is not unexpected,
in fact it underpins this organisation’s Vision, that people living with
a neuromuscular condition should have unrestricted opportunities to
achieve their full potential.
Stories in this edition that demonstrate the core components of this
On the topic of selfless
commitment and contribution,
this will be the last edition
of the magazine that Lindsay
McGregor will contribute to as
Chair of the MDA's National
Kimberley Cameron
[email protected]
Council. Following 17 years of
theme - commitment, generosity and selflessness of individuals and
dedicated involvement with the organisation, Lindsay has decided to
organisations - include our cover story about an individual pushing
step away to pursue other goals. Lindsay's final from the Chairperson
himself to his limits (Huge gains had from extending boundaries,
report on page 15 details the significant progress and development
page 6), the GoBabyGo initiative (page 7), the young boys and their
of the MDA during his involvement.
families participating in the Duchenne-focused Translarna™ drug
trials in Sydney (page 9) and the story detailing the life-changing
difference the Kavanagh family have made to another MDA family
by way of a donated mobility vehicle (page 10). We also include an
inspiring report in our ‘Living with a condition’ section (page 24)
on Jack Lovett-Hurst and his family’s endeavours to rise above the
I feel sure you will enjoy the content in this edition. Drop me a
note if you have anything you think others would enjoy or benefit
from hearing about.
y
e
l
r
e
b
m
i
K
Muscular Dystrophy Association would also like to acknowledge its formal partners:
and its membership of the following organisations:
Huge gains had from
extending boundaries
Feeling like he needed a challenge and to extend himself beyond his comfort zones, late last year Chris Cave
signed up for an Outward Bound course.
It’s been some time now since Chris
“After the first day, I was loving it. We had
of the provided life jacket he is proud he was
returned and he’s still buzzing - his sense
some very early starts but you got used to it
able to overcome his fear and thanks the
of achievement and personal growth really
fast as there was loads to do. Our instructors,
Outward Bound team for their support.
highlighting how this experience has shaped
Anna and Ernie, were perfect for the job.
his approach, self-belief and confidence.
They were kind but they pushed you to your
of us and three support crew, each time
“We learnt to sail a boat, just the nine
potential, taking note of your weaknesses and
following the orders of a designated captain. I
adapted version of Outward Bound’s full
your strengths. The thing is we all did more
got the sack because I turned a bit sharply and
8-day excursion, specifically designed for
then we ever expected ourselves to do.”
nearly lost one of my crew - we all were in fits
The Activate course he attended is an
those with a physical disability. Following
Chris says chances to challenge yourself
of laughter for hours after!”
“We did so much outdoor activity, and
an initial meet and greet in Picton and then
were plentiful - with activities including sailing,
a short trip to Anakiwa in Queen Charlotte
swimming, trekking, teamwork, reflecting and
man it was fun. Everyone on this course did
Sounds, Chris was welcomed along with some
more.
and achieved past all expectations. No one
80 other Outward Bound participants with a
traditional Māori greeting.
Chris, who has Charcot Marie Tooth, says
he was anxious as the larger group was split
into course-specific clusters.
“I felt I really needed to find my own
personal strengths and test some boundaries,
and this would be the way to do it.”
In Chris' Activate group there were two
people who required wheelchairs, two who
used crutches, one sight-impaired person, two
other people with varying disability and Chris
himself who uses leg braces.
"I went to Outward Bound to
achieve my best. Well, I came
home doing better than my
best - I’m more confident,
more keen to take on
challenges, my self-esteem
has gone through the roof,
along with my happiness. I’m
ready to take on the world!”
He says at first the daily swims were a
got left out, and we all did what was asked of
us and more. Those in wheelchairs even went
kayaking so there were no boundaries no
matter what disability we each had.”
“I went to Outward Bound expecting
something in life – following the course I
realised I can get more from life then I have
ever thought. It was well worth it and I think
I speak for all the nine of us on the course.
You have to have a go so, come on guys and
girls, it’s your turn. If you have any questions
please get in contact with me, I think there is
a course in March next year, so start planning
peoples!”
challenge as, having had a bad experience at
intermediate school, he was not comfortable
in the water but by the end of the course his
fears had gone - ensconced in the security
Chris Cave (pictured left) got so much out of
his Outward Bound course, he even beat his
fear of the water.
GoBabyGo vehicles to go
to two lucky MDA children
An initiative that offers purpose-built motorised vehicles and toys for children with physical disabilities is making a
difference to how disabled children play and socialise and will be made available to at least two MDA children in
the coming months.
Begun by paediatric researcher Cole
vital part of learning spatial awareness and
To view details of the expected time and
Galloway, of the University of Delaware, USA,
injecting normalcy in socialisation with
date this will occur, check the Conference
the GoBabyGo initiative was launched in 2006
siblings, peers and authority figures – like
website www.mda2015.org.nz
to ensure children who had problems with
parents and teachers.
mobility but were too young for an electric
wheelchair could learn about exploring.
It is not always easy to access ageappropriate mobility devices that work in a
kindy or primary school environment, and
“We studied mobility, and
immobility, and how that
impacts a child’s ability to
learn and socialise with
peers, and what we see is
a striking difference.”
encourage interaction with siblings and
friends, quite apart from the therapy aspects
which can be built into an electric toy car.
This is where GoBabyGo! New Zealand Pacific
comes in.
The charitable organisation is working with
its partners and supporters to bring mobility
to New Zealand children who will benefit,
at no cost to their families. In exciting
Professor Galloway worked out a reliable
news for the MDA, the organisation
and affordable way to modify off-the-shelf toy
has agreed to provide and build
cars so that children who can't crawl or walk
two vehicles for children who
normally could become part of the action at
are members of the MDA
home, at kindergarten or in playgrounds. And
and intend to build and
he developed a system to work with children
present them on site at the
right from the age at which they'd normally
upcoming Life Without
start shuffling around the house – from six
Limits Conference in April.
months old and up.
“Fun is key here—it unlocks brain
development and exploratory drive for the
child, and ignites active, engaged play from
adults and peers,” Galloway says.
But instead of patenting his system
and selling it, he's made it available
to parents and medical staff
around the world who also see
a need to get young children
mobile, and who realise the
ability to move independently
of parents and carers is a
Children with cerebral palsy had a
‘Go’ on their new vehicles, at
a GoBabyGo presentation
in Nelson recently. Hunter
(pictured left) will be able
to keep up with his sister
now at ‘wheels’ days at
school.
Translarna™ trial participants
Making a difference through participation
Mitchel Jones is one of the boys on the PTC Pharmaceuticals
Translarna™ trial in Australia and the Jones family are proud
to be participating in a process which could benefit those
with neuromuscular conditions in the future.
Mitchel is the eldest of four children, the only one in the family with
Duchenne while one of his sisters is a carrier. He is 10 ½ years old and was
diagnosed when he was four. While he is still mobile, his father Dayle says
his physical strength is deteriorating, he uses a wheelchair sometimes when
going out and struggles physically to keep up at school.
“We heard about the trial through the NZNMD Registry which we had
signed up for just 6 months previously. We have always been open to
participating in a trial and saw this as a fantastic opportunity. Although the
outcome of this trial might not mean a cure for Mitchel, it might help other
people in the future and we’re proud to be a part of that.
The Jones’ participation has meant several trips to The Children's
Hospital at Westmead, Sydney during the initial period in 2014, since then
visits have reduced to every two months and, beyond the initial one-year
period, trips will be every three months.
Dayle says the visits have caused some stress on the family and its
finances though is very grateful for the funding provided for flights,
accommodation and taxi fares.
The trips usually take two days and the family has been very fortunate as
his sisters have been hugely supportive and taken Mitchel for the past two
trips both making the trips fun for Mitchel with visits to the zoo and up the
sky tower.
“It’s very tiring, particularly for Mitchel. The day
they get back, he has the next day off school.
But it’s something we agreed to do, we’ve
always been keen to do what we can and this is
something we’re proud of being a part of.”
Dayle suggests that anyone else that has the chance to become involved
in a trial should jump at it.
“It’s an awesome opportunity. It’s been nice to meet the people we’ve
met with who we are building a close bond and friendship. We’re the last
group in the world on this particular trial and the signs from previous years’
participants appear to be pretty positive. Some of the 14-year old boys with
Duchenne taking part in this trial previously are still ambulatory so they may
be getting some good results.”
Mitchel Jones is one of several New Zealand boys with Duchenne
participating in an Australian PTC Pharmaceuticals clinical trial.
Participation in the trial of the drug Translarna™ was facilitated via
the NZ NMD Registry.
Coleman's story
Participating in the Australian-based Translarna™
clinical trial for Kerry Stephenson and her son Coleman
was a risk and is a challenge, but is a process the family
feels is important for all families affected by the lifelimiting condition Duchenne muscular dystrophy.
Coleman is just eight years old and, in addition to having Duchenne,
is profoundly intellectually delayed. Kerry is a solo Mum to Coleman,
another intellectually delayed sibling and an unaffected child.
She says she felt nervous about the logistics of the trial in
particular because of the difficulties with travelling with Coleman and
was concerned even about how Coleman would do with taking in
new medication (since he struggles to swallow the pills he is on). She
says, however, the support and assistance from the PTC Therapeutics
team in Australia has been extremely helpful.
“We agreed to participate not so much for Coleman, but
because of the potential for the clinical trial to help other children
and families in the future...
Duchenne is not a nice condition, the progression is so slow but
still so steady. Every day as I watch my son he weakens a little more.
If the trial can help future boys then it is fantastic and worth doing.”
She says the willingness of the team in Australia to communicate
with her and answer her questions has alleviated many of her
concerns. The hardest part has been managing the participation
financially. Although many of the costs are covered by the funding
drug company, she has the other children to arrange for care while
she and Coleman are in Sydney and there is a requirement for her
to have emergency money on hand in case something goes wrong
while overseas.
“My family has been great with fundraising though and helping
us juggle finances. Sometimes I have been able to take a support
person too, since travelling with Coleman has additional challenges. In
particular my Mum has helped.”
The next trip is on 22 March, ahead of which Kerry will spend
a bit of extra time with Coleman helping to make sure he will be
able to perform the assessment tasks that will be required of him.
Kerry says she thinks Coleman’s participation in the trial might be
especially interesting, due to the fact he doesn’t speak, the only way
to assess how he is doing and reacting to the trial is via the process of
evaluation the Australian trial is running.
Trial participant, Coleman Stephenson in Sydney; receiving trial
treatment (top) and taking in some Aussie sites (above).
IN Touch // AUTUMN 2015// PAGE 9 Generous vehicle donation
a gift of freedom
The gift of a mobility vehicle from a Manuwatu family looks set to be lifechanging for MDA members the Fincham
family – making a huge difference to their teenage daughter’s life at a key time in her growth and development.
The generous gift was made possible by
Stephen and Tanya Kavanagh, parents to the
remarkably independent Joyce Scott. Joyce
was a very proactive and involved member
of both her own and the MDA community,
seeking answers and assistance for those
living with neuromuscular conditions in
particular those living with respiratory issues.
Sadly Joyce passed away in 2014 and it was
at this time her parents decided that as a
tribute to their daughter her mobility vehicle
should be donated to another MDA family.
Taylor Fincham is 12 years old and was
nominated by MDA Wellington fieldworker
Dympna Mulroy as a very worthy recipient
of the donated vehicle. The Fincham’s live in
rural Manuwatu, not far from where Joyce
Tanya and Stephen Kavanagh hand over the keys to their daughter’s mobility vehicle to gift recipients
Earl and Taylor Fincham.
lived, Taylor is affected by SMA and Joyce’s
freedoms other young people are able to.
parents were very happy for their gift to go
to this family.
“She has missed out on so many
the vehicle is necessary for getting to school.
Immediately following the exchange
opportunities over the last two years as she
of the vehicle, Taylor wanted to go for a
“Joyce utilised the services and support
has been unable to go to events attended by
drive straight away and ended up at KFC in
through MDA to her benefit and it therefore
her peers. Taylor uses her electric wheelchair
Dannevirke. As her father went in to order,
seemed the right thing to do when she
to get to school but has missed some days
Taylor quickly pointed out "Dad I can go
passed – donate her car to the Association,
when it was too wet to go outside. Going
in as well". Earl explained that it was so
as a way of giving back and allowing other
out in cold climates has put Taylor’s health
great… getting in and out was no problem
members to benefit. Her car gave her
at risk and consequently she has spent many
and she had the freedom to select the meal
freedom and a “normal life”. Joyce's car
days at home looking out the window and
she wanted…. It was the happiest he had
allowed her to do the things other individuals
wishing she could join her friends.”
seen her in a long time and she has been
do and take for granted. It stopped Joyce
Taylor’s Mum, Heidi, says the gift of
Skyping her friends with pictures of the van
being a prisoner in her own home especially
the vehicle will enable her to attend her
as it had gotten harder for her to do things
appointments, the doctor's, go to the cinema
and go places as she got older and her
and go out during the summer months with
friend in Wellington over the holidays –
condition progressed.“
her mother and friends. She will be able to
something that would be very difficult
do things everyone else her age is doing; the
without mobility transportation - and was
too heavy for her parents to manually
small things that many take for granted and
also able to attend her school summer camp
transfer, will be able to be taken out in her
previously were not accessible for her. Taylor
in Otaki forest lake recently and gain from
powerchair and experience some of the
will also be attending high school soon and
the independence her electric wheelchair
The vehicle means Taylor, who is getting
ever since.
Taylor was also planning to visit a close
provides her.
MDA Wellington fieldworker, Dympna
Mulroy, says the Fincham family had tried
Both the Fincham family and the Muscular
Dystrophy Association would like to formally
generous gift of Joyce’s mobility vehicle. Their
generosity is sincerely appreciated.
thank Stephen and Tanya Kavanagh for the
numerous avenues for funding and support
to purchase a vehicle themselves and had
exhausted most options.
“I know this vehicle will make an
enormous difference to her life and that of
her extended family. This gift has had a really
positive impact on Taylor’s quality of life,
sense of freedom and independence. She
now has choice and it’s these little things
in life that can make a huge difference to a
person’s health and wellbeing.”
Joyce Scott, who passed away in 2014, was
active in her social group and after finishing
her studies began networking with various
associations and online groups of interest
and in the disability sector. She not only
sought support through MDA but also
assisted with some volunteer work for the
branch, contributed to In Touch magazine
and attended disability group meetings.
Joyce enrolled in the Be.Leadership
programme for 2014 and was in the middle
of completing this when she became unwell.
Be.Accessible coach and accessibility campaigner, Steve Taylor is
on a crusade to help businesses meet the accessibility needs of
their employees and customers. We need to do more, he says, go
beyond compliance and make businesses accessible to an everincreasing number of individuals with mobility limitations.
Steve is currently involved in Be.Accessible’s Be.Welcome campaign – a
The cost of a retrofit to business owners to make them more accessible
new standard in accessibility, whereby businesses are awarded a Quality
is far higher than the cost of building to accessible specifications to begin
Rating following an audit of their premises. A rating of just starting,
with. And so the Be.Welcome rating system makes sense.
bronze, silver, gold or platinum is awarded depending on the accessibility
“Part of being a Coach is to tour around businesses and teach and
of the premises and as part of the process a Be.Accessible rep will advise
show them how they can become a more physically accessible space. We
the business owners of possible methods for improvements.
also teach customer-focused skills both in relation to employee and visitor
Steve says the traditional way that businesses demonstrate they are
accessible, through displaying a blue wheelchair sticker, is insufficient and
accessibility in the workplace and for the customer.”
Businesses that go through the Be.Welcome audit process get a rating
misleading. Steve’s two sons have Duchenne MD and use wheelchairs, so
of where they are at that time. Many Steve has had contact with have
the family have plenty of examples of ‘blue sticker’ premise deficiencies.
been silver/ gold and have been advised of simple steps they can take to
“Anyone can buy a blue sticker and, even when used legitimately, a
sticker usually only means the premise meets the New Zealand building
improve this rating.
One quarter of New Zealanders have a disability, and with an aging
standards minimum specifications, which often times do not meet actual
population the demand for accessible premises will only increase. There
requirements for use.”
will be an increasing opportunity to hire people with accessibility needs,
He uses the example of access ramps which in the building code are
required to have a 1:8 (12.5 percent) gradient.
“For someone in a wheelchair that's impossible to get up. It's too
steep, even in a power chair.”
The building code does recommend for accessibility purposes the
Steve says.
“People are surprised when we raise some of the issues and concerns.
For example at the Hamilton Library, once they started thinking about it,
they realised a lot of people used the facilities not just with wheelchairs
but with mobility scooters and double pushchairs. We tried to suggest
gradient be 1:12, (8 per cent) but Steve says building developers are likely
the most cost effective ways of doing things to make the premises
to choose the minimum and therefore cheaper 12.5 percent option as it
more accessible with in some cases only very small changes required. It
will still comply.
might be as simple as putting up a sign that directs people to the more
He says though that opting for short-term economic gain is pointless.
accessible routes.”
IN Touch // AUTUMN 2015// PAGE 11 Well done Nic
MDA Member Nic Brockelbank was nominated and attended the Attitude TV Awards
in December. Nic is pictured here (RIGHT) with, another finalist, Oceana Olsen and
Arun Devta (Dad of the Junior Award Winner, Muskan Devta) at the Viaduct Events
Centre. Congratulations Nic for making it to the final 3!
You can help give those
with neuromuscular
conditions the
Judy Bailey — MDA
Patron and bow tie week
Ambassador and MDA
member Nic Brockelbank
to live a life with
less boundaries
The MDA is a registered charitable entity CC31123
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
raise your issues at National Council meetings and to make
sure you are heard. Your branch representatives and their
Northern branch
Andrea Clive
Email:[email protected]
Wellington branch
Peter Tegg
Ph: 0272462145
WELLINGTON BRANCH
Fieldworker: Dympna Mulroy
Office Manager: Margaret Stoddart
Southern branch
Raewyn Hodgson
Ph: 03 486 2066
Physical Address:Postal Address:
49 Fitzherbert Street PO Box 33037
PetonePetone
Lower Hutt 5012
Lower Hutt 5012
Phone: 04 5896626 or 0800 886626
Canterbury branch
Paul Freeman
Ph: 03 967 9339 or 021 179 1600
CANTERBURY BRANCH
SOUTHERN BRANCH
Fieldworkers: Paul Graham and Marty Price
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
Postal Address:
7 Lynas Street
Outram
Invercargill 9019
Phone: 03 486 2066
IN Touch // AUTUMN 2015// PAGE 13 MDA news
From the Chief Executive
Greetings, kia ora koutou and Happy New Year!
For many of us the beginning of the new year is a time to make resolutions
and set new goals. For some it sets the scene to build upon our successes
and achievements from the previous year, and for others it represents a
break from the previous year and creates an opportunity for a fresh start.
Whatever the new year means for you I hope that it’s started well and is
providing promise and hope for the remainder of 2015.
MDA Chief Executive,
Chris Higgins
For me personally the new year has
come as a welcome opportunity to create
some distance from the previous year,
which seemed to have more than the usual
number of adversities. I’ve had to learn
a bowl. Turning to her daughter, she said,
“Tell me what you see.”
“Carrots, eggs, and Oolong tea,” she
replied.
Her mother brought her closer and asked
and hardened?
Or are you like the Oolong tea? The tea
actually changes the hot water or the very
circumstances that bring the pain. When
the water gets hot, it releases fragrance and
(often the hard way) a number of lessons
her to feel the carrots. She noted they were
flavour. If you’re like the tea, when things
about resilience, detachment, patience and
soft. The mother then asked the daughter
are at their worst, you get better and change
perseverance, all of which contribute to
to take an egg and break it. After pulling off
the situation around you.”
a fluidity of spirit which helps us to come
the shell, she observed the hard-boiled egg.
through adversity intact and strengthened.
Finally, the mother asked the daughter to
be like the Oolong tea. We need a fluid spirit
The story teaches me that we all need to
sip the Oolong. The daughter smiled as she
that succeeds despite problems, challenges
story which I read when I returned to work in
smelled its rich aroma. The daughter then
and adversity.
January. It’s been helpful for me and I retell it
asked, “What does it mean, mother?”
I was reminded of this by the following
in the hope that others might also benefit.
A young woman went to her mother and
Her mother explained that each of these
objects had faced the same adversity: boiling
told her about her life and how things were
water. Each reacted differently. The carrot
so hard for her. She did not know how she
went in strong, hard, and unrelenting.
was going to make it and wanted to give up.
However, after being subjected to the
She was tired of fighting and struggling. It
boiling water, it softened and became weak.
seemed as one problem was solved, a new
The egg had been fragile, but after sitting
one arose.
through the boiling water, its insides became
Her mother took her to the kitchen. She
hardened. The Oolong tea was unique,
filled three pots with water and placed each
however. After it was in the boiling water, it
on a high fire. Soon the pots came to a
had changed the water colour and taste.
boil. In the first she placed carrots; in the
“Which are you?” she asked her daughter.
second she placed eggs, and in the last she
“When adversity knocks on your door, how
placed Oolong tea. She let them sit and boil,
do you respond?
without saying a word.
In about twenty minutes she turned off
Are you the carrot that seems strong,
but with pain and adversity do you wilt and
the burners. She fished the carrots out
become soft and lose your strength? Are you
and placed them in a bowl. She pulled the
the egg that starts with a malleable heart,
eggs out and placed them in a bowl. Then
but changes with the heat? Does your shell
she ladled the Oolong out and placed it in
look the same, but on the inside you’re bitter
Ka kite anõ – until next time
Chris Higgins
Chief Executive
MDA news
From the Chairperson
This is my last ‘From the Chairperson’ article as I have decided not to seek
re-election for National Council after 17 years involvement.
I originally joined National Council in 1998 when between jobs I hoped my
financial experience might benefit the MDA.
MDA Chairperson,
Lindsay McGregor
So I thought it might be useful to highlight
some of the significant changes that our
organisation has been through over that time.
The most important changes have been
the trustees are mainly clinicians the Trust
MDA nationally and we now have common
has enhanced the relationship with the
constitutions and internal service agreements.
clinical community.
• Increased opportunities for lobbying with
All of the development of our organisation
requires ever increasing funding. It was the
the development of services to members
our CEO, Chris Higgins, being a member
establishment of telemarketing which has
initiated by both the Branches and National
of various lobbying organisations including
been the main improvement to funding. This
Office:
NZORD, the Disability CEO’s group and the
started with a one-person company which
executive of the Carer’s Alliance.
employed several staff to literally take a
• Setting up of branches in Auckland and
Wellington which could only happen due
to the dedicated commitment of volunteers
who are passionate about our organisation.
• Establishment of the Fieldworker service of
which we now have national coverage of
professional staff members working under
a common framework. The Fieldworker
service has been established by and
continues to be funded by our Branches.
• Our Branches also run many member
activities such as camps, social functions
and Bow Tie activities involving promotion,
increasing awareness and fundraising.
• Continuing development of information
services – In Touch, new and existing
member’s enquiries for information,
MDA website, Facebook, keeping up
to date and publishing information on
research developments and living with our
conditions.
• Establishment of the Neuromuscular
Research Foundation Trust. Whilst this
a relatively small Trust it has successfully
provided funding to establish the NMD
Registry and the Prevalence study along
with several smaller research initiatives. As
• Establishment of a counselling service for
members.
• Organising and running several
phone book for the area being targeted and
rip it up into sections for each person to use.
We subsequently moved to a professional
conferences including this years ‘Life
telemarketing company with sound systems
Without Limits’ conference.
and procedures to continue to provide this
With the development of our organisation
we have been able to hugely improve the
National Office premises that we own.
When I started on Council we had an office
in Papatoetoe. Thanks to the drive of the
then Chairperson, the late Don Hebbend,
we moved to much better premises in
Morningside which served us well until 2013
but became too expensive to maintain. It
was decided that we needed premises that
would be ‘state of the art’ for accessibility and
could be used as much more than an office.
Thanks to the commitment of Helen Melrose
and Chris Higgins we were able to purchase
and develop a great new National Office in
extremely important fundraising service.
We have also and continue to look for other
avenues of funding which now include grants
for identified member services, direct mail,
direct donations and a bequest programme.
During my time I have always been
impressed with the passion and dedication
of so many people without which the MDA
would not exist, let alone develop into a
prominent disability organisation. On behalf
of all members I would like to express my
sincere thanks for your commitment.
I would also like to wish everyone involved
with the MDA the very best wishes for the
future.
Penrose which in the short time since opening
has been used for many meetings, training
sessions and social functions.
The concept of the ‘family of five’ was
established to continue to develop the
Lindsay McGregor
MDA Chairperson
IN Touch // AUTUMN 2015// PAGE 15 Ever think your access complaints are not heard?
Frustrated at needing assistance to get places. Can’t
find an accessible route to your destination?
dystrophy and Spinal Muscular Atrophy. Areas to be discussed
include growth monitoring and growth charts, nutritional
requirements, practical tips for managing both overweight
Come and hear Roger Loveless, MDA
and underweight, and the use of novel amino acids and
National council member and CCS
nutritional supplements. An update on current nutritional
Disability Action Access Coordinator
research projects will also be provided.
discuss these issues and how he is
working to provide evidence that will
persuade government and business
that its worthwhile investing in removing these barriers. Roger
will give you some ideas on how to unlock the resources
GOLD SPONSOR
The MDA - ANN Life Without Limits Neuromuscular
Conference brings together for the first time all the
researchers funded by the Neuromuscular Research
Foundation Trust (NRFT).
Chaired by Professor Larry Stern, this
that are needed to remove the barriers faced by people with
physical disability daily.
will be a fast-paced session with each
MDA member Michelle Smith will be unleashing life
providing a personal look into living and working
with a mobility dog.
minutes to explain to you their project.
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The MDA - ANN Life Without Limits Neuromuscular
Conference is also the setting for the second meeting
of the Australasian Neuromuscular Network's Allied
Health and Nursing Alliance - AHNA.
This meeting is open to all Allied
community participation. You'll have
Health and Nursing professionals
an opportunity to meet members (both
working with families with
human and canine!) from the Mobility Assistance Dogs Trust
and you can pick up an application form for getting a mobility
dog from the MDA NZ stand.
Zoë E Davidson from the Department of Nutrition
and Dietetics at Monash University, Melbourne,
recognises that the nutritional issues associated with
neuromuscular disorders (NMDs) are complex and
poorly understood.
neuromuscular conditions.
Chaired by Dr Paula Bray, Senior Occupational Therapist
& Researcher at Sydney Childrens Hospitals Network, the
meeting will build on AHNA's commitment to its members
from the inaugural meeting in Melbourne in 2014 where
26 clinicians and researchers including physiotherapists,
occupational therapists, nurses, genetic counsellors, dieticians
and podiatrists met and established a strong unified vision:
Constant conflicting and confusing
"To provide a one Australasian voice for Allied Health and
messages from the media about what
Nursing care for patients with neuromuscular disorders and
we should eat and what is good for
promote excellence through collaboration and research." The
us is compounded when you have
2015 AHNA meeting will provide a supportive forum for allied
to factor in the consequences of
health and nursing professionals, including both established
having a neuromuscular disorder.
and emerging researchers, to discuss research and potential
Zoe will provide an update on the evidence base as well as
collaborations, access mentorship and hear from established
practical considerations for the managing the nutritional
allied health researchers about forging your own career in
consequences of NMDs, particularly Duchenne muscular
your chosen field.
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MDA news
World Disability Day
wheelchair world record
MDA members and staff were proud to take part in a Guinness World Record attempt in December for the
‘longest line of moving wheelchairs’.
the Stadium’s athletics track, smashing the
of today. It’s demonstrated that people with
Engagement Group (YEG) of disability
previous record of 193 previously set by the
disabilities are motivated and have something
support organisation The Cube, was held on
Christopher and Dana Reeve Foundation in
to give others.”
December 3rd, the 22nd anniversary of the
Los Angeles.
The event, arranged by the Youth
United Nations International Day of Persons
“It’s been awesome, getting everyone
The world record attempt event was a
special celebration, designed to promote an
with Disabilities, at Auckland’s Mount Smart
together in such a show of support,” says
understanding of disability issues and mobilise
Stadium.
Josh Fuimaono, Chairperson of the YEG.
support for the dignity, rights and wellbeing
“We’re thrilled to have broken the record, and
of the 17% of New Zealand’s population who
it’s especially important given the significance
live with disabilities.
247 people in wheelchairs moved together
in a single line, for two minutes, around
Those lining up for the World Record attempt include MDA staff, members and friends.
IN Touch // AUTUMN 2015// PAGE 17 When Performance Really Counts
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MDA news
Friedreich Ataxia (FA)
working group update
The FA working group expressions of interest have been received
and we have a working group consisting of two MDA members, a
neurologist, a MDA Fieldworker, the National Service Leader and
myself.
We have had three meetings and have an aspirational goal of having a
multidisciplinary clinic available to people who have FA in October 2015. Currently we are
looking at creating a business plan that will impress upon the healthcare system that this
Events to diary
MDA Fundraising campaign week
At centres near you
Saturday 21 March Saturday 28 March 2015
Northern Branch AGM
Annual Family Camp
Ngaruwahia
Saturday 21 March 2015
clinic is a requirement and viable. MDA members who have FA will have been contacted
by the MDA to ascertain what interest they have in a clinic like this being available and
what the New Zealand clinic will include as a priority. We have high hopes that if we can
get this type of clinic up and running for one condition that it can be widened to include
other neuromuscular conditions in the future.
Jayne Mclean
Information and Resources Manager
Join LiveWire and make new friends
Livewire.org.nz is a safe, online, interactive forum for young people aged
10 to 20 years, living with a serious illness, chronic health condition or
disability, and their siblings.
The fully-moderated chat room is open two p.m. to two a.m., seven days a week. It provides
members with the opportunity to connect and share experiences with other young people
living with similar conditions, all around New Zealand and Australia.
Livewire.org.nz also provides articles and the opportunity for participants to blog about
themselves. You can join groups related to topics you’re interested in; and use the Livewire
Music Player, featuring all the latest hits!
“On livewire there is always something
to do, read or a competition to enter.
There is always someone to talk to
as well, whether another member or
one of the awesome Chat Hosts.”
Livewire Member, 16
If you have any questions, call 0800
000 680 or email member.services@
livewire.org.nz
Join Livewire by going to www.
livewire.org.nz and clicking the
Brain Day "Your Brain, Your Life"
The University of Auckland
Business School
Saturday 28 March 2015
2015 Halberg Junior Disability
Games
St Peter's College, Cambridge
Friday 10 - Sunday 12 April 2015
MDA AGM
Sky City, Auckland
5.30pm, Friday 17 April 2015
Home and Community Health
Conference 2015
Rendezvous Grand Hotel,
Auckland
28-30 April 2015
www.hcha.org.nz/conference-2015
Pacific Rim International
Conference on Disability and
Diversity “Deep Impact”
Hawai‘i Convention Center,
Honolulu, Hawai’i
Monday 18 - Tuesday19 May
2015 Canterbury Branch Annual
Children’s Camp
Hanmer Springs
5 to 8 October 2015
‘Join Livewire’ button.
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IN Touch // AUTUMN 2015// PAGE 19 Your condition in review
What is Congenital
Muscular Dystrophy?
Congenital muscular dystrophy (CMD)
refers to a group of muscular dystrophies
that become apparent at or near birth.
Muscular dystrophies in general are genetic,
degenerative diseases primarily affecting
voluntary muscles. CMD is rare (affecting
about 1 in 50,000 babies) and both males
and females are equally likely to have this
condition. CMD causes muscle weakness
within the first six months of birth. The first
symptoms are poor head control and weak
muscles, which make the baby seem floppy.
There may be stiff joints (contractures) due
to the baby not being able to move the joints
enough.
Contractures are muscles or
tendons that have remained too tight
for too long, thus becoming shorter.
Once they occur they cannot be
stretched or exercised away.
With the discovery of defects in several
genes in the last two decades, the concept
of CMD has evolved from a narrowly defined
clinical diagnosis (onset in the first months
of life) and histologic diagnosis (dystrophic
muscle on biopsy) to a more inclusive group
of subtypes defined by the specific genes
in which these defects occur. However no
complete or satisfactory classification system
exists. To make things a little bit more
confusing the presentations of the different
types of CMD overlap. The overlap is not only
within CMD subtypes but also among other
congenital muscular dystrophies, congenital
myopathies and limb-girdle muscular
dystrophies. There is still benefit to using
the umbrella term CMD because it provides
a framework for the diagnostic approach to
the infant or young child who presents with
muscle weakness.
What are the features
of Congenital Muscular
Dystrophy?
Signs of CMD include general muscle
weakness and joint deformities. More severe
forms of CMD may include severe mental
There are different types of CMD, which
vary from person to person in how severe
they are, and in whether or not they get
worse (progress). In many cases, CMD is
not progressive, so that although the child
continues to have difficulties, their muscle
strength improves with time, and the child
should have a normal lifespan.
Some types of CMD are more severe
or progressive. In these cases, the muscle
weakness is more pronounced, and the child
may have other problems such as seizures,
learning difficulties and breathing problems.
The more severe types of CMD have a poorer
outlook.
Extensive and ongoing research in the
area of muscular dystrophies is promising,
however there is currently no known cure
for CMD. Intervention is directed towards
helping CMD patients to enjoy the quality of
life that others may take for granted.
and speech problems, and seizures. At
least 30 different types of CMD are now
recognised. (These are listed at http://mda.
org/disease/congenital-muscular-dystrophy/
types-cmd/chart#1). At first glance, the
various types of CMD seem to have little
Voluntary muscle (skeletal,
striped or striated muscle). Muscle
that is under control of the will and
is generally attached to the skeleton.
This does not include heart muscles
initially seemed unrelated now appear to be
related to defects in proteins that "sugarcoat" (glycosylate) a matrix protein, allowing
it to connect with other proteins.
Several of the types of CMD which have
a known gene defect are discussed below:
Laminin-alpha2-deficient CMD is
the most common CMD, and accounts
for approximately 40% of all cases.
Reduced fetal movements in utero may
be noticed. At birth, patients may have
low muscle tone (hypotonia), weakness,
difficulties in feeding, and respiratory
problems. Contractures are common.
External ophthalmoplegia (paralysis of the
motor nerves of the eye) may occur late.
Most infants eventually sit unsupported,
but standing is rare. Nerve disorders
(demyelinating neuropathy) are common
and CNS manifestations may be present,
such as mild mental retardation, seizures
and structural brain changes. Weakness
in common other than their early onset.
But on the molecular level, the types can
be grouped by how their faulty protein
affects the muscle cells. A very small group
of CMDs are linked to proteins that affect
what happens inside muscle fibres, affecting
how the fibres process signals from the
nervous system, for example, or how they
handle calcium. But the vast majority of CMD
types are related to proteins that make up
or interact with the extracellular matrix that
surrounds muscle fibres. Several types of
CMD that arise from gene mutations that
Babies with congenital muscular dystrophy are weak at
birth and may have breathing or swallowing difficulties.
IMAGE SOURCE: MDA USA
is usually static, or minimally progressive.
Walker-Warburg syndrome presents in
congestive heart failure. Eye abnormalities
Complications are related to respiratory
utero or at birth with hypotonia, weakness
are present in about 50% of patients
compromise, feeding difficulties, scoliosis
in the feeding muscles (difficulties in
and cerebral changes are always present,
and cardiopulmonary disease.
sucking, swallowing), and contractures. This
resulting in seizures for many patients.
is a progressive disease, and the average
Severe mental retardation is present,
time of death is nine months of age. Eye
although many children with FCMD do learn
abnormalities such as retinal detachment
to talk. Death from muscular weakness and
and cataracts will lead to blindness. Brain
respiratory failure usually occurs mid-teens,
abnormalities are severe and common.
although this varies from two to 25 years
Typical features of Ullrich CMD include
presentation in the neonatal period with
hypotonia, kyphosis (curvature) of the spine,
contractures, torticollis (twisting of the
neck), and hip dislocation. Protruding heel
bones (calcaneus) may be exhibited, as well
Muscle Brain Eye (MEB) disease is
as hyperlaxity of the joints. Kyphosis and
variable in its severity. Severely affected
the contractures may improve with therapy,
children cannot sit or turn, and they lack
and some patients will learn to walk in time,
visual contact. These children do not
or with delay. However, this ability to move
usually live past the first one to two years.
around independently will be lost after 2-10
Moderately affected patients can often sit
years, usually due to recurring contractures.
and speak a few words. They may have
Respiratory insufficiency invariably develops
severe short-sightedness (myopia), but
within the first ten to twenty years. Children
can make visual contact. Mildly affected
with CMD are often characterised by facial
children may be able to walk for a short
dysmorphism, including micrognathia,
time, they can speak in sentences, and they
a round face with prominent ears and
have good vision. Seizures are common in
drooping of the lower lid. Brain function is
MEB disease, as is mild-to-severe mental
normal, as is cardiac function.
retardation. Mild-to-severe brain changes
with familial junctional epidermolysis
bullosa. Epidermolysisbullosa describes
a group of genetic conditions that cause
are common and show up on an MRI.
Hydrocephalus (excessive fluid in the brain)
may need to be treated with the placement
of a shunt.
the skin to be fragile and to blister easily.
Fukuyama congenital muscular
Epidermolysisbullosa can be severe, even
dystrophy (FCMD) is usually picked up
resulting in death and presents with severe
in utero, by poor fetal movements. A
blistering often secondary to trauma or
weak mouth and lack of head control
heat. Other skin findings can include nail
dystrophy and scalp alopecia. Muscle
weakness is proximal, progressive often
leading to wheelchair use by the second
decade and may correlate with residual
plectin function. Other systemic features
include growth retardation, anemia, larynx
abnormalities, tooth decay, an obstruction
in the lower stomach, infantile respiratory
of age.
Children with defects in the MDC1B gene
present in the first year with hypotonia and
weakness. Motor milestones are delayed,
but walking is achieved by three years.
Facial weakness is prominent, and muscle
hypertrophy is common. Respiratory failure
leads to death or the need for ventilatory
assistance. Intelligence and brain MRIs are
normal.
Defects in the MDC1C gene present with
variable severity and symptoms. The severe
end of the spectrum includes muscular
dystrophy, eye abnormalities leading to
blindness and structural brain abnormalities.
The typical form is similar to CMD with
laminin-alpha2 deficiency (MDC1A).
Presentation is at birth with hypotonia and
weakness with delayed
motor milestones.
is noticeable in the neonatal period.
Between two and eight years of age,
most children with FCMD can stand or
walk a few steps, but some patients
may require support to even sit.
In most cases, cardiac disease
develops after 10 years of age,
resulting in cardiomyopathy
and
insufficiency, and cardiomyopathy. In some
cases, skin manifestations are mild and may
not cause significant disability. Presentation
may then be as a late onset (20-40 years).
IN Touch // AUTUMN 2015// PAGE 21 Your condition in review
Some children with this disorder will be
starting in early infancy, generalized muscle
Other forms may be autosomal dominant,
able to sit up, or take a few steps in the first
weakness, marked mental retardation with
and one severe form is X-linked affecting boy
decade of life, but progressive weakness
most not acquiring meaningful language and
babies.
leads to respiratory insufficiency and death,
microcephaly. Other features seen in some
or ventilatory dependence. Hypertrophy of
patients include dilated cardiomyopathy and
the tongue and legs will be noted, and facial
dry, thickened, scaly or flaky skin.
Diagnosis of Congenital
Muscular Dystrophy
weakness is usually present. Mild weakness
of the heart can occur (cardiomyopathy).
Intelligence and brain MRIs are normal.
The mild form presents with characteristics
similar to that of limb-girdle disease. With
early-onset weakness, the ability to walk is
What causes
Congenital Muscular
Dystrophy?
CMD is a genetic disease, caused by a
lost in the teens, and subsequent scoliosis and
fault in any number of different genes. Genes
ankle contractures occur. Muscle and tongue
contain the recipe for proteins, and when
hypertrophy is common, and facial weakness
faulty, may result in the reduction or complete
is common. Teenagers will usually require
absence of the protein. In the case of CMD,
ventilatory assistance, and respiratory failure is
the proteins affected are muscle proteins. The
the most common cause of death. With late-
reduction or loss of these muscle proteins
onset (in teens or adulthood), walking and
create the characteristic symptoms of muscle
mobility can be preserved until the sixth or
wasting and weakness. Only about 25-50%
seventh decade, but respiratory insufficiency
of patients with CMD have an identifiable
and failure may develop before then.
genetic mutation.
Cardiomyopathy develops in 50% of patients
with early- or late-onset weakness.
Rigid Spine Syndrome (RSMD) is
CMD may be inherited, or it may arise
spontaneously. Spontaneous or sporadic
mutations occur randomly during a child’s
apparent at birth, or within the first year of
conception. When the mutation is inherited,
life with variable degrees of weakness and
it is usually in an autosomal recessive pattern.
hypotonia. Most patients will eventually walk
This means the condition will only become
and maintain mobility for many years, and in
apparent in a child if both parents carry the
contrast to Ullrich CMD, contractures are not
faulty gene, yet do not display symptoms.
present at birth, but usually develop between
the ages of three and ten. Contractures may
occur in the limbs, fingers and face. Children
with RSMD1 are often characterised by spinal
rigidity and scoliosis. Respiratory insufficiency
is common and progressive. Ventilatory
assistance at night may be needed as early as
the first decade. The cardiac system is usually
normal, and intelligence and brain function is
not affected.
LMNA-deficient CMD. This is caused
by a mutation in the gene that encodes for
proteins Laminin A/C. Mutations in LMNA
cause a wide variety of disorders including
Emery Dreifuss Muscular Dystrophy.
Congenital muscular dystrophy with
mitochondrial structural abnormalities.
This syndrome is caused by a mutation in the
choline beta kinase gene. Clinical features
present in most patients include hypotonia
There are often difficulties in diagnosing
CMD, as signs and symptoms of the disease
vary. Where there is no family history, CMD
is unlikely to be suspected straight away. The
earliest sign of CMD is likely to be a ‘floppy
baby’ –severe proximal weakness at birth or
within twelve months of birth. Once CMD
is suspected, diagnostic tests will be offered
to establish a definite diagnosis. These may
include:
•CK Testing
As in many of the muscular dystrophies,
blood levels of the muscle enzyme creatine
phosphokinase (CK, or CPK), may be
increased. This enzyme is normally found
in muscle cells. When the muscle cell is
damaged, CK leaks out into the blood
stream. A blood test will show elevated
levels of CK, up to ten times that of normal.
•MRI
Magnetic resonance imaging (MRI) is
a technique that is able to generate an
image of the soft tissue in the brain. This
allows visualization of the characteristic
brain changes that occur with some CMD
disorders.
•EMG
An electromyography (EMG) investigates
the electrical activity of a muscle. In CMD,
the EMG will typically show activity that
is smaller and shorter than usual. Nerve
conduction velocity (NCV) tests measure
the speed with which a nerve is able to
transmit information. This test is more
accurate in the older child than in infancy.
molecular processes that lead to muscle loss
neuromuscular conditions in primary/
in these disorders and experimenting with
secondary school
•Muscle Biopsy
A muscle biopsy is required for diagnosis.
Normal muscle fibres are regular in size; in
CMD they may appear irregular, or poorly
formed. There may be evidence of muscle
degeneration and repair.
help compensate for a missing or abnormal
methods to counteract these processes.
Among the approaches being tried in
• The MDA Fieldwork Service who can visit
homes and schools
laboratory rodents is gene addition (insertion
• For healthcare professionals: The Care
of new genes, sometimes called gene therapy
standards for congenital muscular
or gene transfer), either to directly supply the
dystrophies which are all available on the
missing protein or to supply proteins that can
MDA website.
protein.
Further references
A variant on this theme is blocking the activity
www.mdausa.org – the Muscular
of harmful genes, which is also being tried in
Dystrophy Association USA website has
lab models of CMD.
an extensive site with plenty of further
Another theme in CMD research is the
Soon after the diagnosis of a CMD child,
it is essential that genetic counselling is
arranged, for one or both of two issues. The
first is the probability that the mutation was
inherited from the parents; and the second
is whether testing for the condition in future
pregnancies can be offered, and with what
degree of reliability.
information on any muscular dystrophy
need to fully understand the process of
conditions as well as research news.
•Genetic counselling provides information
about possible diagnostic tests, including
prenatal testing.
Management of
Congenital Muscular
Dystrophy
As yet, there is no cure for CMD. It
is possible, however, to minimise the
complications by adhering to a management
programme specially designed by a team of
medical professionals. The team will usually be
headed by a paediatric specialist, and includes
a physiotherapist, together with specialists in
other areas as required.
CMD treatment programmes commonly
include use of the following:
• Exercise
• Supportive Equipment
glycosylation of proteins, such as alpha-
muscular dystrophy site. It contains good
Glycoslyation of a protein means the addition
general information on the condition.
of sugar molecules to the protein, which
dedicated to helping and informing those
other substances. Alpha-dystroglycan is not
families with rare disorders – sufficiently glycosylated in several forms of
www.nzord.org.nz
CMD, so understanding and correcting this
process is a promising avenue for treatment of
these disorders. Several forms of CMD share
three common muscle abnormalities:
• excessive apoptosis (also known as
programmed cell death);
• inflammation; and
• fibrosis (scar tissue formation).
Drugs and other strategies that combat these
processes are being tried in laboratory-based
CMD research.
Additional resources/
information on
CMD available
from the MDA
• Guide to respiratory
care for
• Surgery
neuromuscular
Research into Congenital
Muscular Dystrophy
Research in the congenital muscular
dystrophies centres around understanding the
NZ also has an excellent website
changes the way the protein interacts with
• Nutrition
• Respiratory assistance
www.muscular-dystrophy.org – the UK
dystroglycan, in the muscle-fiber membrane.
disorders
• The management of
congenital muscular
dystrophy a guide for
families
• The Teachers
guide to
IN Touch // AUTUMN 2015// PAGE 23 Living with a condition
Working towards
increased independence
Around the streets of Invercargill, Jack Lovett-Hurst is a well-known figure. Whenever he’s free the
seventeen year old gets himself sorted, and cruises off in his motorised wheelchair for the 20 minute trip
from his home to the shops, popping into every second one to say hello and check out any new products
that are for sale.
The independent Year 13 student is
commonly referred to in his own family as
hospitalised for respiratory issues since he
orthodox medical approaches – which we
was about 5 which is really great.”
see as having had great benefits,” Debbie
“The Magnet”. So called for his ingenious
From the time of birth, Debbie sought
ability to attract and hold the attention of
a mixture of traditional and complimentary
anyone who’s anyone in town at the time –
medicinal treatments for her son – the
an amazing influence on the teenager,
tv personalities, national and international
combination of which she credits for a good
supporting and encouraging him. They all go
sports stars, you name it, if they’ve been in
part of Jack’s improvement in his health.
out on runs together, Jack on his handcycle
the same town as Jack, he’ll have a story to
He participated in Conductive Education
while Debbie and Greg run, regularly
tell and a signed picture to prove it.
(Hungarian–derived therapeutic motor
covering 5km. Jack and Greg also compete
Jack’s Mum, Debbie Houkamau, says
skill development) after school for 7 years,
in events - the 6km City to Surf and 10km
they’ve met some amazing people through
therapy which Debbie believes considerably
Festival of Running in the past year.
Jack’s ability to connect with people, but his
improved his fine and other motor skills. She
strength and independence have been hard
says at one stage Jack was able to walk a few
his future he’d like to be involved in sports
fought battles at times.
steps with sticks, and walk between parallel
in some capacity – he’s just not sure exactly
bars but, due to other foot issues, this skill
how as yet. He’s involved at a local level at
was not able to be developed.
St Paul’s athletics club, where he participates
‘Jack was born with congenital muscular
dystrophy and we were told he would be
lucky to live beyond two winters. At first,
“My background is in natural remedies
says.
She says, Jack’s step-dad, Greg has been
A keen sportsman, Jack says regarding
in the javelin, discus and 100-400m training
there was a lot of intervention and surgeries
and for Jack we have taken a more holistic
on his handcycle. During his down time,
but things improved. He hasn’t been
approach, intermingling complimentary and
though, and on weekends Jack’s happy
being a spectator, either watching rugby
league or union on television or attending a
game locally. He’s a big All Black, Stags and
Highlanders fan and enjoys a sports weekend
at home when these teams are playing.
Through his interest in sport, Jack has
managed to secure a regular hosting spot
on Radio Southland, where once a week
he gives up to a 20 minute spiel 'Jack’s
Knowledge of Sport’ which is broadcast on
96.4fm at 6:45pm on Wednesdays.
Debbie says although Jack is very
independent and capable, she would like
to see him able to socialise more with
people his own age. There are considerable
barriers to him going out with and visiting
Jack Lovett-Hurst is a well known figure travelling around Invercargill on his handcycle.
other teenagers’ homes, in particular due to
Jack’s brief
medical history
• Born footling breech and broke his
femur on delivery. Was club-footed
and had dislocated hips.
• Spent 3 weeks in neonatal as could
not swallow his own secretions.
• Was not supposed to live beyond
2 winters. Spent a lot of time in
Christchurch hospital for first two
years.
• Was tube fed and was told would
never feed himself. Hands and
elbows were contracted and his left
leg bowed right up to his tummy.
• In early years Jack had quite a few
surgeries and Debbie also tried
a wide range of complimentary
therapies, supplements and herbal
aids.
• After year 4-5 was not hospitalised
Jack with Kiwis captain Simon Mannering (above),
with Rabbitohs player Isaac Luke (top right) and with
the Australian Rugby League Captain Cameron Smith
(right).
again for respiratory problems
and Debbie sees this as a huge
achievement.
accessibility issues. She hopes that over the
next year and in his transition year beyond
school to the next stage of his life, he will
gain further independence and the family is
To all MDA members:
working with CCS to help facilitate this.
Should you want for the condition
“With Jack’s CCS representative,
affecting you to be the focus of an
Tony Kahukura, we are looking into paid
employment, training and voluntary work
upcoming In Touch, please suggest it
to the team.
opportunities. Also with the help of the
The MDA has members with more
LASC (local area service coordinator) Jenny
than 60 conditions and, with only
Hogg we have come up with a plan to
four In Touch editions per year, it is
launch a microenterprise selling a natural
difficult to get across information on
cream and soap that I have been making for
them all.
the past 17 years, that helps skin conditions
If you think your condition needs
such as eczema and psoriasis, Jack will be
a mention, contact us via email
the salesperson for this.”
[email protected] or phone 0800
“More involvement and visibility in the
community through this, may lead to further
800 337 and talk to membership
services.
opportunity.”
IN Touch // AUTUMN 2015// PAGE 25 Research and relevance
Potential therapy for incurable Charcot-Marie-Tooth disease
Researchers discover new treatment approach for this hereditary neurological disorder
Patients with Charcot-Marie-Tooth disease
the therapeutic potential of the growth
for Charcot-Marie-Tooth disease type 1A.
type 1A have an extra copy of the PMP22
factor neuregulin-1. They were able to
Applying the findings to patients, however,
gene, which leads to the overproduction of
show that the balance between two
is still a long way off. A therapy with
the peripheral myelin protein 22 (PMP22) a
signalling pathways could be restored by
neuregulin itself is not safe for patients.
key component of myelin. This causes slow,
administering neuregulin-1. The mice who
Therefore, drugs that can imitate the
progressive nerve damage, which can begin
were treated with the growth factor showed
as early as childhood.
improvements that lasted into adulthood.
Patients suffer from numbness, tingling
The scientists and the neurologists from
neuregulin-1 signalling pathway will be
tested.
and pains in the arms and legs, as well as
Michael Sereda’s Research Group now
Content and image sourced from: http://
weakness of leg and arm muscles. Some
want to conduct additional studies to drive
www.mpg.de/8379467/Charcot-Marie-
forward the development of a treatment
Tooth-neuregulin
patients can only move around with the
help of a wheelchair. The disease has been
incurable to date, as little is known about the
fundamental mechanisms of the disorder.
Researchers, however, in Göttingen are
studying genetically modified rats, which, like
Charcot-Marie-Tooth patients, produce too
much PMP22. In these animals, the Schwann
cells cannot mature properly, with the result
that insufficient numbers of axons are
enwrapped with myelin during development.
In this latest study, the scientists tested
Electron microscopic images of cross sections of nerves in a healthy rat (left), a rat suffering from CMT1A
(centre) and a rat suffering from CMT1A that has been treated with neuregulin-1 (right). The neuregulin-1
treatment leads to improved myelination in the CMT1A rat model, which comes close to that of healthy animals.
Phase 1 trials for Congenital MD drug treatment starting soon
In preclinical research, drug company Santhera earlier demonstrated that treatment drug Omigapil prevents
apoptosis and loss of muscle tissue, ameliorates muscle histology and increases body weight and survival of a
disease-relevant animal model for Congenital Muscular Dystrophy.
in congenital muscular dystrophy and has
feasibility of conducting disease-relevant
to interact with an enzyme called
initiated a clinical development program with
clinical assessments for the design of future
glyceraldehyde 3-phosphate dehydrogenase
public-private partners.
efficacy trials.
The Omigapil compound is thought
(GAPDH) which has been implicated in
The Phase I study (CALLISTO) will evaluate
More details about the research that has
programmed cell death (apoptosis). Santhera
the pharmacokinetic profile, safety and
led to this phase 1 trial is available at http://
has in-licensed omigapil from Novartis
tolerability of oral omigapil in pediatric and
www.santhera.com/downloads/Erb_et_
for development and commercialization
adolescent CMD patients and establish the
al_2009.pdf
Research and relevance
Heart failure drugs shown to slow heart
decline in Duchenne
A new study is showing that early use of available heart failure drugs can slow the progressive decline in heart
function before symptoms are apparent in boys and young men with Duchenne muscular dystrophy (DMD).
Dr. Subha Raman, a cardiologist and
standard of care for patients with DMD.
function was significantly less in the
professor at The Ohio State University
In this trial, researchers enrolled 42 boys with
eplerenone treatment group than in those
Wexner Medical Center, led a clinical trial
DMD who also showed evidence of early
on placebo. Raman noted that the results
that tested the combination of eplerenone
heart muscle damage by cardiac magnetic
indicated at least six months of therapy was
and either an ACE inhibitor or an angiotensin
resonance imaging. In the double-blind
needed to realise benefit.
receptor blocker (ARB) to decrease the
study, the boys were randomized to receive
progression of heart muscle disease, a
one pill of either 25 milligrams of eplerenone
leading cause of death in boys and young
or placebo daily for one year. All subjects
men with DMD.
received background therapy with either an
"We believe this research offers evidence
ACE inhibitor or ARB as prescribed by their
that supports the early use of these readily
physician. Enrollment and follow-up visits
available medications," said Raman, who is
were completed between March 2012 and
also the lead author of the study.
July 2014.
hope to see even greater benefits with
Also involved was Dr. Linda Cripe, a
The participants had cardiac MRIs before and
longer-term follow-up of these patients.
pediatric cardiologist and co-investigator at
again at six and 12 months after starting the
Slowing the progression of heart disease
Nationwide Children's Hospital in Columbus
study medicine. After 12 months, the team
should translate into improved quality of life
who is hopeful this treatment could become
reported further decline in left ventricular
for affected individuals and their families.”
"We know that a sensitive measurement of
heart function known as strain is abnormal
well before complications like congestive
heart failure and fatal arrhythmias occur in
DMD. By impacting this earliest detectable
change in heart function, we expect and
Leading the research, cardiologist and professor
at The Ohio State University Wexner Medical
Center, Dr. Subha Raman.
IN Touch // AUTUMN 2015// PAGE 27 Research and relevance
Pharnext announces pleotherapy proof of concept in
Charcot-Marie-Tooth Disease Type 1A
In December Pharnext SAS announced the proof of concept of its pleotherapy research and development
approach based on a proprietary network pharmacology platform that identifies synergic combinations of drugs
already approved for other diseases.
• Showing, beyond stabilisation, a
Pharnext’s lead pleodrug, PXT-3003, has
shown positive results both in preclinical
significant 14.4% improvement in the
and Phase 2 clinical studies (published in the
ONLS (Overall Neuropathy Limitation
Orphanet Journal of Rare Diseases)
Scale) composite score versus placebo.
clinical trial set to begin in 2015.”
About the clinical trial
In this double-blind, placebo-controlled
ONLS is considered a major scale to
Phase 2 clinical trial, 80 patients with mild
combination of three repurposed drugs is
evaluate disability of upper and lower
to moderate CMT type 1A received either
active in models of Charcot-Marie-Tooth type
limbs in peripheral neuropathies. FDA
placebo or one of three escalating doses of
1A neuropathy”, PXT-3003 was shown in
has recommended the use of ONLS as a
PXT-3003 orally for one year. Preliminary
two different CMT 1A rodent models to:
primary efficacy endpoint in CMT disease.
safety and tolerability data were obtained
In the preclinical publication titled “A
• Showed a consistent trend of
• Inhibit the overexpression of the PMP
together with the first efficacy data. The
22 gene responsible for myelination
improvement in other clinical and
Overall Neuropathy Limitations Scale (ONLS)
perturbation in CMT 1A
electrophysiological measures including
and the Charcot-Marie-Tooth Neuropathy
CMTNS (Charcot-Marie-Tooth Neuropathy
Score (CMTNS) were the main efficacy
Score), the six-minute walk test, ankle
endpoints. Other clinical outcomes and
dorsiflexion, handgrip or the nine-hole
electrophysiological measures were also
peg test.
evaluated.
• Improve myelination of peripheral nerves
• Improve clinical motor and sensitive
impairment.
In the Phase 2 clinical trial publication
Following the reporting of this data,
titled “An exploratory randomised double-
If you want to be involved in clinical trials
Daniel Cohen, M.D., Ph.D., chairman and
you can register yourself or your child with
blind and placebo-controlled phase 2 study
chief executive officer of Pharnext, said,
the NZ Neuromuscular Disease Registry.
of a combination of Baclofen, Naltrexone and
“Positive preclinical and Phase 2 data for
Email [email protected].
Sorbitol (PXT-3003) in patients with Charcot-
PXT-3003 validate our pleotherapy approach
Marie-Tooth disease type 1A, PXT-3003 was
based on network pharmacology. We look
reported as:
forward to continuing the development of
• Being safe and well tolerated
PXT-3003 with an international Phase 3
www.boccia.org.nz
HIGHLIGHTS OF THE LEVO C3
- 4 Wheel drive for optimum indoor/outdoor use
- Maximum stability for driving in sitting / standing position
- Compact turning circle 110cm with small footprint
- Low seat to floor height
- Driving range up to 25km optional 35km
- 35 degree tilt in space
- User weight up to 140kg
- Non shear backrest
- Crash tested
HIGHLIGHTS OF THE LEVO COMBI
- Mid wheel drive
- Non shear backrest and leg rest
- Compact turning circle with small footprint
- Safe and secure stand up operation of all angles between sitting and standing
- Electric adjustment of leg rest, backrest, Hilo and tilt functions
- Maximum user weight 120kg
- Expandable electronics
- Crash tested
- Multiple colour options
IN Touch // AUTUMN 2015// PAGE 29 All All
Functions,
Functions,
Without
Without
Hospital
Hospital
Looks
Looks
Kea Kea
Non-Clinical
Non-Clinical
BedsBeds
are designed
are designed
and manufactured
and manufactured
here here
in New
in New
Zealand.
Zealand.
The aim
The is
aim
to is
provide
to provide
a beda to
bed
meet
to meet
Non-Clinical
Non-Clinical
Beds
Beds
hospital
hospital
appearance.
appearance.
Electric
Electric
functions
functions
available
available
include
include
HiLow,
HiLow,
backback
raise,raise,
calf raise,
calf raise,
and tilt.
and tilt.
Models
Models
offered
offered
include:
include:
Homecare,
Homecare,
Medical,
Medical,
and and
Companion.
Companion.
All widths
All widths
and lengths
and lengths
are available.
are available.
A king-sized
A king-sized
spilt spilt
homecare
homecare
bed is
bed
pictured.
is pictured.
We also
We also
provide
provide
mattresses
mattresses
for improved
for improved
sleep,sleep,
pain pain
reduction,
reduction,
easier
easier
transfers,
transfers,
and superior
and superior
pressure
pressure
care.care.
Lift,Lift,
Don’t
Don’t
TiltTilt
The TA
TheService
TA Service
Toilet
Toilet
Lift, Lift,
developed
developed
in in
Denmark
Denmark
is designed
is designed
to lifttovertically,
lift vertically,
which
which
is safer
is safer
and easier
and easier
for those
for those
with with
weakweak
leg leg
muscles.
muscles.
It is ideal
It is ideal
for persons
for persons
with with
muscular
muscular
dystrophy.
dystrophy.
You You
can sit
canatsit
your
at your
desired
desired
height
height
and with
and with
the hand
the hand
control,
control,
electrically
electrically
elevate
elevate
to a standing
to a standing
position.
position.
All lifts
All operate
lifts operate
on a on a
rechargeable
rechargeable
battery.
battery.
WithWith
normal
normal
use, use,
recharging
recharging
is required
is required
only only
onceonce
a week.
a week.
Installation
Installation
is easy;
is easy;
no wiring,
no wiring,
Around
the home
to lifttovertically
fromfrom
Around
the home
lift vertically
is required.
is required.
All surfaces
All surfaces
are easy
are easy
to clean.
to clean.
Travel
Anywhere,
Anytime
with
thethe
Molift
Smart
150150
Travel
Anywhere,
Anytime
with
Molift
Smart
The The
Molift
Molift
Smart
Smart
150,150,
designed
designed
and and
manu
manu
factured
factured
in in
Norway
Norway
is theisworld’s
the world’s
lightest,
lightest,
alloy-folding
alloy-folding
patient
patient
lifter.lifter.
It canIt be
canfolded
be folded
quickly
quickly
and easily
and easily
for transport,
for transport,
or toor to
standstand
on itsonend
its for
endstorage.
for storage.
The NiMH
The NiMH
(Nickel
(Nickel
Metal
Metal
Hydride)
Hydride)
battery
battery
is more
is more
environmentally
environmentally
friendly,
friendly,
durable,
durable,
and accepted
and accepted
by by
airlines
airlines
for travel.
for travel.
Molift
Molift
slings,
slings,
are designed
are designed
to betoused
be used
with with
the Smart
the Smart
150 150
4-point
4-point
suspension
suspension
system,
system,
which
which
improves
improves
comfort.
comfort.
You You
are also
are also
positioned
positioned
easily,
easily,
and safely,
and safely,
with with
excellent
excellent
spacespace
fromfrom
the mast
the mast
and suspension.
and suspension.
ForFor
further
further
information
information
visitvisit
ourour
website:
website:
www.mortonperry.co.nz
www.mortonperry.co.nz
Or Or
to arrange
to arrange
a trial
a trial
call:call:
0800
0800
238238
523523
or email:
or email:
[email protected]
[email protected]
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.
Disability and health insurance
Happy new year, I hope everyone had a wonderful time and the new year will be one of health and
happiness for you and the family. Although I have posted about insurance before, I have noticed online a lot
of discussion about access to health insurance and living with disabilities.
Are we entitled and how does that
for any pre-existing condition and any risk
Essentially, you can get health or life
entitlement look? To begin with, we are
they believe they may incur. If it is deemed
insurance and they cannot deny you that.
entitled to apply and receive health insurance.
unreasonable a cost, then they can have that
However, they can load the premiums,
The insurance companies cannot deny us
challenged by the insurance ombudsman. The
but it has to be reasonable. Who decides
access to health insurance. The human rights
UN Convention on the Rights of Persons with
reasonableness? The insurance ombudsman
commission has clarified it by stating that:
Disabilities under article 25 does not allow
can decide if you believe the premiums are
discrimination for accessing health insurance
too high or the company tries to deny selling
because of disability. Article 25 states that:
you the insurance you want. You can reach
It is unlawful to refuse to provide
insurance by reason of a prohibited ground
of discrimination. It is not unlawful to offer
States Parties recognize that persons with
the insurance and savings ombudsman by
insurance on different terms or conditions for
disabilities have the right to the enjoyment
contacting them at:
people with a disability if it is based on:
of the highest attainable standard of
Freephone: 0800 888 202
• actuarial or statistical data, upon which
health without discrimination on the basis
Telephone: 04 499 7612
Email:
[email protected]
it is reasonable to rely, relating to life
of disability. States Parties shall take all
expectancy, accidents or sickness or where
appropriate measures to ensure access for
no data is available
persons with disabilities to health services that
• reputable medical actuarial advice or
are gender-sensitive, including health-related
opinion, upon which it is reasonable
rehabilitation. In particular, States Parties shall:
to rely, and which is reasonable in the
a. Prohibit discrimination against persons
particular circumstances. http://www.hrc.
co.nz/enquiries-and-complaints-guide/
what-can-i-complain-about/disability/
However, there is nothing to stop insurance
companies from loading a higher premium
Good luck and remember we have ACC
and a publicly funded health system although
it does not always provide the best cover or
cover everything we need. It is your choice.
with disabilities in the provision of health
insurance, and life insurance where such
insurance is permitted by national law,
which shall be provided in a fair and
reasonable manner;
The MDA congratulates Dr Huhana Hickey for her success in the
2015 Queens Honours Awards. Huhana was recognised as
a member of the New Zealand Order of Merit (MNZM) for her services to people
with disabilities.
hana
u
H
Dr
y
Hicke
Well done
Huhana!
In honour of
Jim Pollok,
1918-2015
- By Joseph Boon
2015 began on a sombre note as my neighbour and friend passed away on new years
morning. He was 96 years old, and had filled every second with activity and zest. With your
indulgence, I write my column for this issue in his honour.
When I was at primary school I gave a speech about my friend
Jim, in fact that was what it was called, and it touched on the naval
service he performed in WWII. He was not a man to overplay his role
in events, rather emphasising the collective deeds of 'the lads'. He was
nonetheless present on board a Royal Navy battleship off the coast of
Normandy on June 6, 1944. His job as radar operator meant jamming
the Nazi radar machines covering Sword beach, one of the six landing
sites upon which Allied soldiers began their liberation of Europe.
He had the honour of switching the jamming apparatus on. Even
accepting that he played as small a part as any in Operation Overlord
-- jamming Nazi radar as part of the knock-out blow to a terrible fascist
tyranny is a better days work than I will ever do!
It was a poignant moment to deliver freshly baked scones to Jim
and his wife Fay on June 6, 2014, the sixtieth anniversary of D-Day. It
has been a privilege to be his neighbour for most of the last sixteen
years, and to enjoy our peculiar camaraderie that connected a Navy
veteran in his nineties with a scrawny kid who was born in the nineties.
I received much advice from Jim -- from the benefits of walking sticks,
to the wonders waiting to be unlocked by intellectual curiosity. His last
advice to me was to cherish freedom. In the final months of last year
he moved into full-time care and felt the keen loss of liberty brought by
old age. It was (and is) the most common physical disability -- one that
even the most 'able' people get eventually.
It was not in Jim's character to retreat, and even through to the
middle of last year he was planning to visit England one last time. His
mind was truly awe inspiring, and would not accept the limits of an
infirm body. Why should it have to? Freedom is not static, nor is it
entirely material. It is the striving for something new and different; it is
a journey.
Joe with his friend Jim and Jim's wife Fay
at Joe's 21st in 2011
To Jim Pollok, 1918-2015, the finest friend you could ever hope
to have.
MDA Counselling Programme
A free confidential nationwide service for MDA members
Contact your local Branch, MDA Fieldworker or the National Office (0800 800 337) for more information. See page 13 for branch details.
•
Technical solution needs
to be accessible, sustainable,
and resource-sparing to patients
and families
Post marketing
surveillance
The TREAT-NMD Patient Registries were
primarily designed to facilitate patient entry
into clinical trials to test drugs for treating
neuromuscular disorders. Clinical trials are
usually comprised of a number of phases,
with phase 2 and 3 being potential entry
points for people with neuromuscular
conditions (phase 1 is where the drug is
tested in healthy volunteers). Post marketing
surveillance (PMS) is part of the drug
development process, known as Phase 4 and
is mandated by the pharmaceutical regulators
(Food & Drug Administration (FDA) in the
USA, European Medicines Agency (EMA) in
Europe and MedSafe in NZ. This is to allow
clinic), as an post-marketing infrastructure
shared by many/most drugs would enable
coordination and consistency of data
collection
Setting up a disease specific PMS
Disease group specific (shared) PMS
system is a very complex issue with many
platforms do not yet exist and traditionally
stakeholders to be considered, including
pharmaceutical companies have set up
patients, patient organisations, patient
their own drug-specific databases for the
registries, clinicians, regulators and the
relevant pharmaceutical companies but
the TREAT-NMD registries are well-placed
to contribute to this development. TREATNMD has been in active consultation with
representatives of all of these stakeholders
over the past year to ascertain the feasibility
of developing a disease-specific PMS
platform. As a result of the consultation, it is
clear that having a PMS platform integrated
into the resources of our neuromuscular
mandatory data collection. Translarna is the
first drug to receive conditional marketing
authorisation for DMD, and is already
available in some countries. Other drugs are
in the pipeline for DMD and also for SMA.
Therefore, there is an urgent need for a PMS
system, since for Translarna, PTC will have
to start collecting PMS data on their drug
shortly.
TREAT-NMD feels this poses an exciting
community has several advantages:
opportunity for the neuromuscular
• Data oversight (involving patient
community as a whole to build on the
representatives and academics)
• Transparency of data collection, access and
usage
existing registry initiatives to develop a PMS
platform. The consultation which has been
performed indicates that TREAT-NMD has the
for the collection of safety and efficacy
• Quicker access to add new drugs
opportunity to act as an independent third
data once a drug has received (conditional)
• Showing clinical benefit (efficacy) over the
party that can bring together a public-private
marketing approval and to assess how it
long term will aid in the justification for
partnership of this kind and deliver a disease-
performs in 'the clinical setting'. PMS data
reimbursement by health agencies and
specific PMS platform for the neuromuscular
has to be collected on every patient receiving
insurance companies.
community on a national and international
the drug, or an agreed number of these
• Reduces fragmentation of data
level. Updates on this work will be provided
patients, and is usually part of long-term data
• Possibility to also include Natural History
via the TREAT-NMD website www.treat-nmd.
collection that can run for a period of about
data collected at the same participating
eu and the NZ NMD Registry Curator who can
10-15 years. For rare diseases, the regulators
sites into the same platform
be contacted by email [email protected]
in the US and Europe have expressed a
preference for the development of diseasespecific PMS systems over drug-specific ones.
• Possibility to exchange data with national
registries
• Conservation of resources
Also, there is an increasing recognition by
(patient, family,
the pharmaceutical companies developing
physician,
drugs for neuromuscular disorders that a
shared post-marketing infrastructure for a
specific disease group would facilitate and
expedite post-marketing surveillance,
while conserving resources.
A PMS registry has to fulfil
certain requirements:
• Regulatory compliant
data capture, storage
and processing in a
certified database
system
• Accurate and
reliable measures
of patient health
and well being
Image sourced from: www.crwf.com
IN Touch // AUTUMN 2015// PAGE 33 Genetic muscle
disorders included
Duchenne muscular
dystrophy
Becker muscular
dystrophy
Manifesting carriers of
muscular dystrophy
MD-PREV aims to find out
•How many people are affected by genetic muscle disorders
in New Zealand
•How these conditions impact on the person and those close
to them
•What support people receive and what else is needed
The overall aim is to improve the care and
support provided for people living with a genetic
muscle disorder and their family/whanau.
Congenital muscular
dystrophy and
myopathies
Emery-Dreifuss
muscular dystrophy
Facioscapulohumeral
muscular dystrophy
Limb girdle muscular
dystrophy
Myotonic dystrophy
Oculopharyngeal
muscular dystrophy
Please contact the MD-Prev Research Team:
Distal muscular
dystrophy
Phone: 0800 MDPREV (637738)
Text: 0212458597
Myotonia congenita
Paramyotonia
congenita
Central core disease
Pompe’s disease
Nemaline myopathy
Myotubular myopathy
GNE myopathy
Periodic paralysis
HyperCKemia
Facing mortality-the ultimate
challenge
Death is so often seen as a scary spectre that is to be avoided at all costs, a creature that
inspires more fear and denial then any ghost story. I guess that is the difference between
something you can explain away or deny with logic, and something that is an unavoidable,
undeniable fate that we all meet at some point.
Thinking about the end is something few people want to dwell
I had a bad chest infection (again) that I realized the actual severity of
on, with its associated mass of feelings. We would rather spend our
my state of mind. I had actually stopped caring about getting better;
time busy and distracted from such gloomy and likely frightening
I was over the struggle and didn’t feel as though I had any more
thoughts. But for me the idea of dying is something that causes
energy to try. That was the first time I actually considered wanting to
concern only in the sense that I will likely go in a state of stress or
die. Scarily, that relatively short period of illness was not the only time
fright, fighting illness or some other consequence of my disability. It is
in the following weeks and months that these thoughts occupied my
an unsettling idea for anyone to contemplate.
attention.
After living with illness and health complications for my entire
I don’t know if I had had the ability to action my thoughts
life it has become less of an issue to accept the presence of death.
whether I really would have tried anything. But looking back on the
Through long association the imminence of death is something
years since I slowly moved on from that dark and doubtful time, I am
like an old acquaintance that keeps turning up to parties uninvited.
so very glad I wasn’t able to and didn’t find a way.
Someone who nobody really knows how to deal with, so they pass
These struggles, in one form or another are probably very
as quickly as possibly trying not to catch the eye of this lonely figure.
common in people with chronic health issues or disability. In no
When I was a teenager I used to go through phases of battling what
way do I think I am unique in these experiences. But I do feel it is
I referred to in my head as The Shadows or The Dark Things. These
something I need to talk about and others need to understand. We
were the doubts and fears of a teenager, but made weightier by an
are all humans and on some level we all fear the end. By sharing this
increasing awareness of my mortality.
I hope it will give others a little more understanding and help them
find their own level of peace. I believe it is totally possible to recover
'...spending too much time stuck fearing
what can’t be escaped is one way of losing
time that could be used celebrating the
place and time you are in, loving those
around you and living life to the fullest.'
from depression and to find a sense of acceptance of something that
will undoubtedly come to us all. It isn’t easy but spending too much
time stuck fearing what can’t be escaped is one way of losing time
that could be used celebrating
the place and time you
are in, loving those
around you and
living life to the
Usually as teenagers we go through a stage of feeling ten foot
tall and bullet proof, but this was for me the beginning of my real
struggle to come to terms with the inevitability of my life. For a
number of years it was pretty easy to keep back The Shadows and
fullest.
- Anonymous
contributor
prevent them from invading too much or for too long. I thought I
had coping strategies and that things were good. But when I was
about 19 or 20 I really crumbled. For some reason I had got to a point
where my coping strategies and natural optimism and determination
were no longer enough.
I had reached a point where my defenses had been over-run
and I spiraled into what I later realized was depression. Some of the
people close to me had noticed changes in my behavior over time,
but generally I didn’t notice any changes about myself. It wasn’t until
IN Touch // AUTUMN 2015// PAGE 35 Inviting you or your child to
take part in the New Zealand
Neuromuscular Disease Registry
If you or your child has a neuromuscular condition we will invite you to take part in this registry.
The registry has received ethics approval. The registry will accelerate and facilitate clinical trials
by locating potential research participants quickly and efficiently.
What are the benefits?
There are good reasons for you to register here:
• You may be offered the opportunity to participate in international
clinical trials
• You will be regularly updated about research results, as well as
about TREAT-NMD activities. You will receive feedback on new
research developments- This means that you will be informed
about new treatments and about what specialists think are the
best ways of caring for people with neuromuscular conditions
• You will be assisting the neuromuscular community with the
development of recommendations and standards of care for
specific conditions. The standards of care are guidelines for
treatment that have been compiled by international experts.
• You will help researchers gain more knowledge about the
prevalence and natural history of neuromuscular conditions
within New Zealand and about the way you are being cared for.
• Allow clinical trials in New Zealand to be more easily planned
• There is the sense of “belonging” to a broader community
• Feel as if you are not being left behind as as clinical trials develop
• Have a link to the research community
There are also many benefits to the research industry
• Easy access to participant community
• Clear concept of target market
• Feasibility and planning of clinical trials
• Recruitment of participants into clinical trials
The New Zealand Neuromuscular Disease Registry is
generously funded by the Richdale Charitable Trust and
supported by the Neuromuscular Research Foundation
Trust.
A neurologist’s knowledge
Collaborating for a cure
Following on from the Summer 2014 article as promised we
finished the TreatNMD conference in Leiden with some good
prospects for data-sharing for FSHD and myotonic dystrophy. This
was a really good chance to meet up with people from all over the
world - Mexico, Egypt, Serbia, were the more (to me) unexpected
countries. Of course everyone was just as impressed with us having
come “all the way from New Zealand” but we are definitely a central
part of that group and punch above our weight. A new development
that came from the meeting is the chance that the network can
look at postmarketing drug surveillance which looks to make sure
that new drugs which seem to do well in drug trials don't have
unforeseen downsides when tried in real populations.
Then I travelled to Hong Kong and caught an airport shuttle into
the city of Shenzhen in China. I had one moment of apprehension
when a border official pointed a gun at me, but it turned out only to
be a remote thermometer as they were seeking to exclude Ebola. The
other major impression I had was that of the huge number of new
buildings being built; tall cranes were everywhere.
The meeting there was the International Rare Diseases Research
Consortium or IRDiRC - a dreadful acronym in English but it sounds
quite nice in French, apparently. This extraordinary organisation has
as its two main objectives that by the year 2020 they will deliver
200 new therapies for rare diseases and be able to diagnose most
rare diseases. Their website shows what progress has been made in
these goals. Membership is gained by contributing USD 10 million to
on how we could do this project better, from individuals that I was
able to talk with and who were so generous with their time and
eager to make things possible.
So, while there was a sense at that meeting that we in New
Zealand are a very small fish in a big pond (especially in China where
they are contemplating completely sequencing a million people’s
DNA) people were keen for even small projects in our country to
succeed. This should give us hope that there will be treatments for
many of the diseases that affect MDA members.
research into rare diseases over 5 years! Remarkably 40 organisations
have signed up - they include drug companies, rare disease
organisations in US and Europe, Governmental agencies such as our
collaborators in Western Australia.
Two things that struck me were first the level of collaboration
that people are prepared to go to to solve some of the issues
around these new diseases. The best example of this is the Canadian
Genetics Service who have set up Phenome Central – a database for
people to put the clinical description of patients’ symptoms so that
others in the world can see whether they look after patients with the
same rare condition – so that then they can collaborate together to
find the genetic cause of their disease.
The second was the chance to meet and network with
people who work with genetics every day. I guess this
would be called “networking”. Currently we are
working in Auckland on a project to find the cause
of a rare ataxia and the great thing was that I could
get immediate feedback
and pointers
Richard Roxburgh FRACP PhD
Consultant Neurologist
Neurogenetics Service
Auckland City Hospital
CONDITIONS COVERED BY MDA
MUSCULAR DYSTROPHIES:
DISEASES OF THE MOTOR NEURONS:
MYOPATHIES - all types:
• Becker Muscular Dystrophy
• Spinal Bulbar Muscular • Andersen-Tawil syndrome
• Congenital Muscular
Dystrophies and Congenital
Myopathies Atrophy (Kennedy’s Disease • Central Core Disease
and X-Linked SBMA)
• GNE Myopathy
• Spinal Muscular Atrophy - • Hyperthyroid Myopathy
• Distal Muscular Dystrophy
all types including Type 1
• Hypothyroid Myopathy
• Duchenne Muscular Dystrophy
Infantile Progressive Spinal
• Myotonia Congenita (Two
• Emery-Dreifuss Muscular
Muscular Atrophy (also known
forms: Thomsen’s and as Werdnig Hoffman Disease)
Becker’s Disease)
Dystrophy
• Facioscapulohumeral Muscular Dystrophy
• Limb-Girdle Muscular Dystrophy
• Manifesting carrier of Muscular Dystrophy
• Myotonic Dystrophy
• Oculopharyngeal Muscular
Dystrophy
METABOLIC DISEASES OF MUSCLE
- all types including:
• Acid Maltase Deficiency (also
known as Pompe’s Disease)
• Debrancher Enzyme Deficiency (also known as Cori’s or Forbes’ Disease)
• Mitochondrial Myopathy
• Type 2 Intermediate Spinal
Muscular Atrophy
• Type 3 Juvenile Spinal Muscular Atrophy (Kugelberg Welander Disease)
• Type 4 Adult Spinal Muscular Atrophy
• Periodic Paralysis
INHERITED ATAXIAS
• CANVAS
• Friedreich Ataxia (FA)
• Charcot-Marie-Tooth
Disease (CMT) (Hereditary HEREDITARY SPASTIC
PARAPLEGIAS
Motor and Sensory
- all types - (HSP) (also called
Neuropathy) - all types
Familial Spastic
• Dejerine-Sottas Disease (CMT Type 3)
• Hereditary Sensory Neuropathy
INFLAMMATORY MYOPATHIES:
• Dermatomyositis
NARP and MIDD)
• Polymyositis
Deficiency (also known as DISEASES OF THE NEUROMUSCULAR
JUNCTION:
Tarui’s Disease)
• Congenital Myasthenic Syndrome
known as McArdle’s Disease)
• Paramyotonia Congenita
• Spinocerebellar Ataxia (SCA)
• Inclusion Body Myositis
• Phosphorylase Deficiency (also
• Nemaline Myopathy
DISEASES OF PERIPHERAL NERVE:
(including MELAS, MERRF,
• Phosphofructokinase • Myotubular Myopathy
• Lambert-Eaton Syndrome
• Myasthenia Gravis
Paraparesis)
LEUCODYSTROPHIES
- all types
Neurocutaneous Syndromes
(conditions affecting the brain and
the skin)
• Central Cavernous
Hemangioma
• Neurofibromatosis Type 1
• Neurofibromatosis Type 2
• Schwannamatosis
• Tuberous Sclerosis
• Von Hippel Lindau Syndrome
Should you have a query regarding a condition not listed please contact Jayne on (09) 815 0247,
0800 800 337 or email [email protected]
YES, I would like to help.
Please accept my donation.
Your name ..................................................................................................................................
Mailing address ..........................................................................................................................................................
......................................................................................................................................................................................
Please charge my credit card for the donation amount of $ ....................................
Visa
Mastercard Credit Card No:
Name on Credit Card ...............................................................................................................................................
Expiry Date: ...............................................................................
Signature ...............................................................................
Or enclosed is my cheque for the donation amount of $ .............................................
If you would like your donation to go to an MDA Branch, please tell us which one ..................................................
Return to: Muscular Dystrophy Association NZ Inc. PO Box 12063, Penrose, Auckland 1642,
New Zealand.
The privacy act 1993 requires us to advise you that your private details are held in our records for our purposes only, but should you wish us
not to do so at any time you may advise us of this.
Others ways to donate:
You can also donate directly to the MDA by internet banking:
Account name: Muscular Dystrophy Association of New Zealand, Account number: 12 3077 0474718 000
OR Donate an amount of your choice securely online at www.mda.org.nz, Reference: Donation1
Please remember to email us at [email protected] to let us know your name and address along with the date of your donation so that we can
send you a receipt.
You can also donate via Payroll Giving
Payroll giving is a really easy way to make regular donations to the MDA while also helping you to reduce
your PAYE tax. For example a donation of $20 earns $6.66 in tax credits that is taken off your PAYE, so MDA
receives $20 and you keep $6.66. All you need to give your employer is our name, the amount you wish to
donate and our bank account number. For more information contact us.
To make a bequest to the MDA
You may be thinking of making a will and may wish to include the MDA as a beneficiary. If so we suggest the
following as an option for inclusion in your will:
“I give and bequest to: Muscular Dystrophy Association of NZ Inc. …………% of my estate, or the sum of
$......... for the general purposes of the Muscular Dystrophy Association, I declare that the receipt of an officer
of Muscular Dystrophy Association shall be a full and sufficient discharge of my trustee”.
THANK YOU FOR YOUR SUPPORT - Charities Commission Registration CC31123
IN Touch // AUTUMN 2015// 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

Autumn 2015 In Touch - Muscular Dystrophy Association of New

Transcription

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