Kia Noho Tata // Spring 2011// Volume 72

Transcription

For people living with neuromuscular conditions
Mō te hunga whai oranga i te mānuka-uaua
InTouch
Kia Noho Tata // Spring 2011// Volume 72
Youngster‘s wish is Granted
WWE Stars Share a moment with fans
Fertility science brings hope to Prospective parents
Cerebellar and spinocerebellar ataxia Discussed
SEE INSIDE FOR more .....
Neuromuscular Research
Foundation Trust
For people living with neuromuscular conditions
Mō te hunga whai oranga i te mānuka-uaua
........ is now accepting applications for funding research relevant to New
Zealanders living with neuromuscular conditions. The research may be of a
qualitative or quantitative, investigative or experimental nature.
To receive the Neuromuscular Research Foundation Trust information sheet and an
application form, contact the Chief Executive, Chris Higgins.
Closing date for applications is 11 November 2011
Call or email Chris Higgins on Ph. 09 815 0247, 0800 800 337 or [email protected]
InTouch
Contents
The Official Journal of Muscular Dystrophy Association of NZ Inc. // Kia Noho Tata // Spring 2011// Volume 72
Out and about
Sandra’s wish is granted
09
Hamilton member directs play at Fringe
10
Fans meet and greet WWE Stars
11
Good news story thanks to fertility science
12
World Report seeks to improve lives of disabled
PO Box 16-238, Sandringham,
Auckland 1351, New Zealand.
07
Freephone 0800 800 337
NZ Phone: (09) 815 0247
International prefix (00649)
Fax: (09) 815 7260
MDA news
Editor: Kimberley Cameron
Email: [email protected]
14
From the Chief Executive
15
From the Chairperson
Contributions:
We welcome contributions, comments
and letters to the editor. We thank all
contributors to this edition.
17
Welcoming the new National Service Leader
19
Accessing counselling - a few useful tips
Your condition in review
Deadline for next issue:
Wednesday 2 November 2011
20-21
Cerebellar and spinocerebellar
ataxia
Subscriptions: In Touch is available free to
people with neuromuscular conditions,
their families, health and education
professionals and other interested people.
22-25
Members share their personal stories
Advertising: In Touch welcomes
advertisements concerning products
and services of relevance to people with
disabilities. For a rate card, please contact
the Muscular Dystrophy Association
national office.
Printers: Mike Dowsing
Print Consultants Ltd
Mb: 021 276 6412
Ph: 09 262 1077
www.printconsultants.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
Research and relevance
26
Potential new discovery in FSH treatment
27
Olesoxime clinical trials for SMA
In your words
29
Legally mindful - Dr Huhana Hickey
30
31
33
At ease - Ben Robertson on being ignored
GenYine issue - Stacey Christie reports on life at uni
A neurologist’s knowledge - Richard Roxburgh
COVER IMAGE: Sandra Wilcock swam with
dolphins and dare-devilled to her hearts
content on a family trip to Australia recently,
thanks in part to the Make-A-Wish Foundation.
See overleaf for details.
The production of this
magazine is generously
supported by
The Lion Foundation.
Muscular Dystrophy Association
Our Mission
To provide New Zealanders living with neuromuscular conditions personal support and
information, and to advocate, influence and promote equality of opportunity.
Our services include:
•
Membership of our branches and national organisation.
•
Specialised information about neuromuscular conditions.
•
Information about disability equipment, resources
and services.
•
In Touch magazine delivered to members four times a year.
•
Informative website and free 0800 phone number.
•
Workshops for people with neuromuscular conditions,
their families, carers, medical professionals and others.
•
Advocacy on behalf of members and their families.
•
Opportunities to meet and network with other people
and families affected by the same and other
neuromuscular conditions.
•
Referrals to genetic services for genetic testing.
•
Support for research projects throughout New Zealand.
•
Disability and medical support equipment on loan
when available.
•
Public promotion and education about neuromuscular
conditions and how they affect people’s lives.
To view a list of neuromuscular conditions
covered by MDA, go to page 34.
Should you have a query regarding a condition
not listed please contact Miriam on
(09) 815 0247, 0800 800 337 or
email [email protected]
in touch // spring 2011// PAGE 4
CHIEF EXECUTIVE
Chris Higgins
NATIONAL SERVICE
LEADER
Claudine Young
MEMBERSHIP SERVICES
MANAGER
Miriam Rodrigues
ACCOUNTANT/
BUSINESS MANAGER
Raema Inglis
MARKETING MANAGER
Deborah Baker
PROJECT MANAGER
Hilary Rayner
ACCOUNTS AND
ADMINISTRATION
ASSISTANT
Paul Johansson
MEMBERSHIP AND
MARKETING ASSISTANT
Kerry Hills
VOLUNTEER
Alan Hall
from the editor
Hi to all regular In Touch readers and welcome also to those new to
the community and to this magazine.
It is continuing to be a busy and productive year for the MDA.
Immediately on the heels of the launch of the New Zealand
Neuromuscular Disease Registry – as announced in the Winter 2011
In Touch – the MDA is now commissioning local research through
the Neuromuscular Research Foundation Trust (NRFT) and so opening
up research streams that will be of direct benefit to New Zealanders
living with neuromuscular conditions. For details and for the MDA’s
research priorities see Chris’ column on page 14.
In this edition also, MDA fieldworker, counsellor and Fertility New
Zealand volunteer, Darian Smith, discusses his findings on the latest in
fertility science and the options progress can provide to prospective
parents (see page 11).
The neuromuscular condition we touch on in this edition is
spinocerebellar ataxia and thank you to those of you affected by the
condition who were willing to share your stories. Also included in
this section is a fascinating report from, medical geneticist, Dr Mac
Gardner on his work in tracking the gene responsible for a so far
almost unheard of type of the condition, SCA type 30. (For this and
other information on spinocerebellar ataxia see pages 20-25.)
Thank you to those who contributed to this edition, please continue
to contact me when you learn of interesting developments or have
stories you’d like to share. It is always a pleasure to receive your
communications and I look forward to your feedback on this edition.
Kimberley Cameron
[email protected]
Muscular Dystrophy Association would like to thank the following sponsors and supporters:
...... and the ANZ Staff Foundation, the Rehabilitation Welfare Trust, CR Stead Trust and The Richdale Charitable
Trust for their continuing support.
IN Touch // SPRING 2011// PAGE 5 Seating solutions for
comfort, fit and
function
InTouch Flovair
InTouch
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For individuals with mild to
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Invacare® Infinity®
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Invacare® InTouch
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The Invacare InTouch Seat Cushions
begin with the base for comfort,
stability and function. Flovair™ and
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Chance of a lifetime
Matakana school pupil, Sandra Wilcock had her dream to swim with dolphins fulfilled recently, thanks in part
to the Make-A-Wish New Zealand Foundation
Sandra has spinal muscular atrophy, type 3, which is a genetic
rides. It was a fun-filled day and we were all very tired and had to get
condition that attacks the motor neurons and so affects her muscle
up early the next day to catch our Air New Zealand flight home.”
strength and movement. She is 11 years old and lives with her Mum,
“It was an amazing experience - I think Make-A-Wish is a
Lee-Ann, Dad, Richard and sister, Jane.
Sandra fell in love with dolphins when her family were out on
wonderful organisation that helps a lot of children with lifethreatening illnesses.”
their boat during a camping holiday up north some time ago, and
saw a pod of dolphins playing nearby. Since then it has been Sandra’s
dream to swim with the majestic animals.
With the help of Sandra’s specialist, Claire Spooner, Sandra
applied to the Make-A-Wish Foundation and was thrillled to learn her
application had been successful
“My wish was granted and my family and I were off to Australia’s
Gold Coast to swim with the dolphins at Sea World.”
Sandra’s mother, Lee-Ann says her daughter was overwhelmed
when she learned her wish had been granted and struggled to
hold back the tears. The Make-A-Wish Foundation also gave the
youngster a number of valued gifts.
“As well as the trip, I was also given a beautiful Pandora charm
bracelet and a giant chocolate rabbit, a lovely painting by, Rodney
artist, Jody G along with a private art session with Jody.”
Sandra is a self-confessed thrill-seeker so, in particular, revelled in
the busy four-day trip to the Gold Coast.
“Our first day we went to Sea World where I spent 45 minutes in
the dolphin enclosure with a dolphin called Kyama. He was fantastic
- they are truly beautiful mammals. We spent the second day at
Movie World which was also a lot of fun. I had a few rides and had
a lot of photos taken with Warner Bros characters such as Batman
and Tweety. On day three we went to the Currumbin Wildlife
Sanctuary where I held a snake which was cool. I also held a cuddly
koala and crocodile.”
“We then spent a day at Dream World where I went on a heap of
Sandra Wilcock gives her dolphin friend Kyama a kiss (left), holds a
baby crocodile at Currumbin Wildlife Sanctuary (top) and hangs out
with Batman and her sister, Jane, at Movie World (above).
Make-A-Wish Foundation New Zealand
“All New Zealanders have the opportunity to
share the power of a wish”
For more information phone Make-A-Wish on
09 920 4760, or email [email protected]
IN Touch // SPRING 2011// PAGE 7 MUSCULAR DYSTROPHY ASSOCIATION
OF NEW ZEALAND INC.
Contact details for the Muscular Dystrophy Association’s branches
NORTHERN BRANCH
Field workers: Joanna Baylis and Darian Smith
Office Manager: Denise Ganley
Physical Address:
Postal Address:
Lion Foundation House PO Box 300429
3 William Laurie Place
Albany
Albany North Shore City 7052
North Shore City
Phone: 09 415 5682 or 0800 636 787
SOUTHERN BRANCH
Mary Burn
Raewyn Hodgson
Postal Address:
Postal Address:
151 Stobo Street
7 Lynas Street
Grasmere
Outram 9019
Invercargill 9810
Phone: 03 486 2066
Phone: 03 215 7781 Email: raewyn.hodgson@xtra.
or 03 218 3975 co.nz
If you want issues brought to National Council
meetings, talk to your branch representative. They have the
WELLINGTON BRANCH
Field worker : Marty Davis
Office Manager: Margaret Stoddart
Physical Address:
Postal Address:
49 Fitzherbert Street PO Box 33037
Petone
Petone
Lower Hutt 5012
Lower Hutt 5046
Phone: 04 5896626 or 0800 886626
CANTERBURY BRANCH
Field workers: Paul Graham and Lis Burnett-Taylor
Office Manager: Eris Le Compte
Physical Address:
Postal Address:
36 Kingsley Street
PO Box 80025
Sydenham
Riccarton
Christchurch
Christchurch 8440
Phone: 03 343 4083 or 0800 463 222
or 0800 800 337
responsibility to raise your issues at National Council meetings
and to make sure you are heard. Your branch representatives
and their contact details are as follows:
Northern branch
Claire Siddens
Ph 09 630 3420
Email [email protected]
Wellington branch
Liz Mills
Ph 04 566 9557
Canterbury branch
Amy McMullan
Ph 03 3511 501
Ph 0800 463 222
Southern branch
Raewyn Hodgson
Ph 03 486 2066
‘A Coward Swings at the
Gallows’
A play on at September’s Fringe Festival in Hamilton takes a serious yet darkly humourous look at the after
effects of a soldier’s engagement in World War 1, and has proved an enlightening personal growth opportunity
for its fledgling director, MDA member Tegan Morris.
Having finished her social science degree at Waikato University
in 2009, and taken part in a University theatre production in 2010,
Tegan was inspired by a similar war story she had seen enacted and
so decided she’d like to try to direct one herself.
“I enjoy and feel confident as a public speaker and enjoy the time
I spend behind the scenes directing a show. I also enjoy making the
executive decisions while collaborating and sharing ideas with the
team.”
Not long after deciding to go along this path, Tegan met Jesse
Marshall-Smith, who wrote the play for producing. Tegan says she
was so pleased when she first read the script as it captured the
essence of her vision of the story and was even happier when Jesse
met, for the first time, the cast she had chosen as he thought the
cast members chosen fit the characters well.
“I’ve enjoyed being able to get absorbed in a project and to
think creatively. We’ve been working on developing more in-depth
connections with the characters, figuring out how they would speak
and act.”
Tegan says the project has been a steep learning curve and
presented some challenges but she has enjoyed it immensely.
“It was difficult sorting out a full cast and then learning about
lighting, creating schedules for rehearsals and then just organising
things in general.”
“It’s been a bit of self discovery - you think you know things
about yourself but when you meet new people you have to push
the boundaries. It’s good to have those experiences now and then
as they tend to challenge you and make you wonder why you do
certain things certain ways and wonder where you might do things
differently.”
A Coward Swings at the Gallows is the story of, World War 1 war
veteran, Henry’s battle in his twilight years to accept his wartime
choices and experiences.
Tegan says she feels the subject matter is highly relevant as wars
have huge impact on a wide range of people for long periods of
time – not just on those who fight at the frontline. Of particular
interest, she says, are the specific historical events and people from
Play director, Tegan Morris and stage manager Hannah Wright
promote their upcoming Fringe Festival production ‘A Coward
Swings at the Gallows’.
This is of particular note, she says, due to the fact that the
secrecy ban from World War 1 is still in place and there is still much
that is historically unknown about the judicial events that took place
during this war – some of which are touched on in the play.
A Coward Swings at the Gallows will be on at the Meteor
Theatre, Victoria Street Hamilton on 28 and 29 September at 8pm.
It is for mature audiences due to content and language.
For information on the Hamilton Fringe Festival in September visit
www.hamiltonfringe.co.nz
World War 1 mentioned in the play.
IN Touch // SPRING 2011// PAGE 9 Mixing it with the WWE
Superstars
World wrestling phenomena, the WWE Superstars performed at Auckland’s Vector Arena in July,
and several MDA fans were there to see the guys show off their muscles and moves.
MDA member and lifetime WWE fan, Wayne Simons was a key instigator in arranging the meet
and greet with the stars - the following is his report.
I have been an avid follower of WWE for more than 20 years and
watch the show every week, never missing the Pay Per View events,
monthly on Sky TV.
During a visit from my MDA field worker, Joanna Baylis, in
February, I mentioned to her that the WWE was coming to Auckland
in July for a live event at Vector Arena. Since the WWE is a supporter
of Muscular Dystrophy in the USA I thought perhaps we could
approach them to set up a meet and greet with some of the WWE
Superstars? MDA Northern’s, Denise Ganley took the issue up and
contacted also the WWE to see if something could be arranged for
MDA members. I put her in contact with the person from WWE
who organises the meetings with the Superstars as they had set up a
meeting for me back in 2009. This contact proved to be successful as
within a week Denise was able to organise a meet and greet for me
and any other MDA members interested.
Two others took up the offer so there were three of us to be there
on the night.
When the night arrived it was very cold waiting outside for the
WWE representative who was to take us to the meeting room. We
were told to be there at 6.15pm but, the host, John did not arrive until
about 6.45pm and the show was due to start at 7.30pm. When we
got to the meeting room there were several other people there for
meet and greets.
About 7pm they brought in two WWE Superstars, The Miz and R
Truth. Even though they play “Bad Guys” they were extremely friendly
to talk with. We lined up and got autographs from both of them and
then had photos taken.
Then at least 30 other people who had won various contests came
WWE Champion, John Cena, takes time out to talk and get pictures
taken with Wayne Simons and his father Ken, at the WWE Superstars
event in Auckland in July
through to meet them as well. We had been instructed not to leave, as
been with John Cena, which was far more important! It is a great
there was one more Special Superstar who would be coming to meet
experience to see the WWE show live in person, as the TV shows do
us after everyone else had left.
not do the events justice.
To my great surprise, it was one of my favourites, The WWE
The show went for about two and a half hours so it was after 10pm
Champion, John Cena. It was a great thrill to meet him and spend a
by the time we got back to the hotel we were staying at in Auckland
few minutes talking with him about his Muscle Car collection. I was
city. I live in Whangarei so we stayed in Auckland city for the night. It
given a t-shirt, a hat, wristbands, headband and a program, which he
was about 1am before I got to bed so it had been a long night but it
autographed for me. He signed a few things I had brought with me as
was well worth it!
well. I also had lots of photos taken with John. That was the highlight
of my evening and something I will always remember.
We then went up to the arena to watch the show which had
already started a few minutes earlier but that wasn’t a problem. I had
WWE are big supporters of the MDA in the United States
and proudly support the US Association through their “Make A
Muscle Make A Difference” campaign.
Fertility science - helping
parents beat the odds
Earlier this year, MDA Northern hosted an information evening where members had
the opportunity to meet fertility specialists and discuss the options with regard to
preimplantation genetic diagnosis. As a follow up to the evening, field worker Darian
Smith put together this report.
In May 2008, Suzanne and Rob Turnbull joined the thousands of
Rob Turnbull with he and, his wife,
Suzanne’s miracle baby boy, Sean.
wrong: The IVF process may produce too many eggs to safely proceed;
New Zealanders affected by a neuromuscular condition. They learned
or there may be too few eggs; or the eggs may not fertilise; or the
that their 11 week old baby daughter had congenital myotonic
embryos may not grow: or it may not be possible to get PGD results
dystrophy. Among the many implications of this devastating news was
from all embryos biopsied.
For Suzanne and Rob it took four attempts. Their first three cycles
the fact that any future children they had would have a 50% chance of
also having myotonic dystrophy.
In the past, medical science has not been able to offer much in the
way of help for couples carrying genetic conditions such as muscular
resulted in 16 embryos. Suzanne says that waiting to see how many
embryos were affected was the worst part. Despite 50:50 odds for each
embryo, only one of the 16 was unaffected.
After implanting that one embryo was unsuccessful, they started a
dystrophy who want to have children. They’ve worked out the odds of
the condition being passed on and left prospective parents to decide on
fourth cycle. This time they got five unaffected embryos, one of which
whether to “roll the dice”. For some, it is an impossible choice.
resulted in a pregnancy. Their baby was born in August. “We never
Recent developments in fertility science, however, now offer some
gave up on our dream,” says Suzanne.
Couples wanting to make use of PGD to avoid passing on an
couples an alternative. Preimplantation genetic diagnosis (PGD) as part
of an in vitro fertilisation (IVF) cycle offers a chance to beat the odds.
inherited neuromuscular condition can access public funding, providing
For Suzanne and Rob Turnbull, this was an easy decision to make. They
they meet certain criteria:
•
wanted their daughter to have a sibling and with 50/50 odds of another
affected child, they felt they couldn’t risk a natural pregnancy.
•
In an IVF cycle, the woman is given medication to suppress her
body’s natural fertility cycle, then different drugs to stimulate it into
The impact of having the condition must be considered to be serious.
There must be at least a 25% chance that the condition will
be passed on to the child.
preparing multiple eggs instead of only one. These eggs are collected
•
The condition must be caused by a single gene
before they are released from the ovary and fertilised using sperm
•
The woman must be less than 40 years old and have a BMI
produced by the man. After a few days, an embryo is selected from
those fertilised eggs which have developed and is implanted back into
the woman’s uterus.
For PGD, extra steps must be taken. Before beginning the process,
the couple must undertake feasibility testing. This requires a blood
sample from both prospective parents and enables the lab to develop
less than 32.
If these conditions are met and the feasibility study successful,
funding may be granted for up to two cycles of IVF with PGD. (If the
first cycle results in a successful pregnancy then no further cycles will be
funded.)
For more information on the PGD process, talk to your doctor for
an accurate test for their specific condition. Each test is unique to the
a referral to either the Northern Regional Genetic Service or to the
couple involved. In some instances it is not possible to do PGD because
Northern Regional Fertility Service.
an accurate test for the embryos cannot be developed.
If feasibility testing is successful, then an IVF cycle with PGD can
proceed. At the fertilisation stage individual sperm are selected and
In the end, the peace of mind made it all worthwhile for Suzanne
and Rob. “We know our child will be unaffected by myotonic dystrophy
and that it will not be passed on to the next generation.”
injected into each egg rather than allowing them to fertilise the eggs
without assistance. This is to ensure there is no erroneous genetic
material from unsuccessful sperm to confuse matters at the testing stage.
Successfully fertilised eggs are then left to develop for three days
and by then will ideally be embryos with around six to eight cells each.
Each embryo is then biopsied with one or two cells being taken and
sent away for testing. When the results are back, they will show with
a high level of accuracy which of the embryos are affected by the
condition and which are not. An unaffected embryo can be selected
and implanted to complete the IVF process.
Pre-natal diagnosis, carried out by chorionic villi sampling
(CVS) or amniocentisis at approximately 11 or 15 weeks
of pregnancy, respectively, informs parents whether the
pregnancy has the disorder looked for (for eg, myotonic
dystrophy). If the pregnancy is affected, parents will need to
make the difficult, often impossible decision, about whether
or not to continue with the pregnancy.
It is a complex process with a number of things that could go
IN Touch // SPRING 2011// PAGE 11 World Report on Disability looks at
removing barriers and improving lives
Following the Convention on the Rights of Persons with
Disabilities, attention has focused on ways to remove barriers to
the participation of people with disabilities in their societies. Now a
report argues that more research and disaggregated data are needed
to show what works to improve the lives of persons with disabilities.
This pioneering report shows how removing barriers to
new publication, the first ever World Report on Disability, produced
mainstream services and investing in rehabilitation, support services
jointly by the World Health Organisation and the World Bank, reviews
and more accessible environments can ensure that millions of people
evidence about the situation of disabled people, and offers directions
with disabilities can participate in education, employment and
for policy and practice, which can help overcome exclusion.
wider society. At the intersection of public health, human rights and
The report contains chapters on health; rehabilitation; assistance
development, the World Report on Disability is required reading
and support; enabling environments; education; and employment.
for policy-makers, professionals, and advocates for people with
The voices of people with disabilities themselves open each chapter,
disabilities and their families.
setting the scene for what follows. Within the chapters, case studies
The MDA library has a copy available for you to borrow free of
show how many countries have succeeded in promoting good
charge or to order your own copy go to www.who.int/disabilities/
practice. The diverse challenges faced in low, middle and high-
world_report/2011/en/index.html
income settings are differentiated wherever possible.
Importantly, the report also includes the first new disability
prevalence estimates since the 1970s. Global trends such as the
ageing population, and the increasing importance of chronic
diseases, mean that the prevalence of disability is likely to rise in the
future. The report makes the case for better data collection, using
the International Classification of Functioning, Disability and Health.
Overall, there are major evidence gaps in the disability field, and the
The following poem was written by nine-year
old MDA member Nicholas Brockelbank.
Thank you Nicholas for your contribution!
Look out for the Attitude Award
I am a computer loading very slowly.
announcements later this year
I am a monkey laughing so much I start to cry.
as young MDA member Nicholas
I am tired, every time I sit down I want to go to sleep.
Brockelbank is one of three finalists
I am the warm sun shining on your back.
for the Attitude Youth Award.
I am a guitar playing a slow solo to the world.
I am a lamb chop, nice & meaty.
This award aims to highlight the
hard work and dedication shown by
young people and the contribution
By Nicholas Brockelbank
they make to our society.
Nominees may have excelled in the
educational, sporting or artistic field,
or they may be a strong advocate in
the community.
Nicholas’s (and all the other
Attitude Award finalists) big night
is set down for December 1st at
Auckland’s new Viaduct Events
Centre and will be screening on TV
One.
Southern branch member learns to ‘jam’
Southern Branch member Adam Clark loves the guitar and, thanks in part to the generosity of the MDA committee at the Southern Branch,
he now has his own especially light-weight guitar and is taking lessons. Adam has Duchenne muscular dystrophy, lives in Middlemarch and
attends Strath Taieri School. He is pictured above with Andy Gilmore, his guitar teacher, with whom Adam thoroughly enjoys learning to play.
Lift don’t tilt
Independence without assistance
The TA. Service Toiletlift, developed in Denmark, is designed to lift vertically, which is safer and easier for those with
weak leg muscles. It is ideal for persons with muscular dystrophy, MS, rheumatic or hemiplegic conditions. You can
sit at your desired height, and with your hand control, electrically elevate to a standing position. All lifts operate on a
rechargeable battery.
With normal use, recharging is required only once a week. Installation is easy; no wiring, plumbing or modification
of toilet and cistern is required. The powder coated stainless steel surface is very easy to clean.
Around the home, to lift vertically from floor to table, table to kitchen bench and cupboards, ask about the Living/Office
Chairs as well. Contact us for more information or to arrange a trial.
Phone 0800 238 423 Email [email protected] www.mortonperry.co.nz
MDA news
From the Chief Executive
Tena koutou katoa
to the lives of New Zealanders living
with neuromuscular conditions; novelty
Unless you’re one of those
readers who avidly goes straight
to the Chief Executive’s column
as soon as you open your copy
of In Touch you will probably
have seen the Neuromuscular
Research Foundation Trust (NRFT)
advertisement on the inside front
cover of this edition.
This is very exciting as it means that for
and uniqueness; implications for Maori;
soundness of design and methods; and ethical
considerations. Proposals will be welcome in
support of PhD research, in which case the
NRFT may award up to two MDA scholarships
per year of up to $5000 each.
The NRFT will go through a process of
deciding upon and prioritising proposals
which it considers are worthy of support,
and then submit them for funding. In the
MDA Chief Executive,
Chris Higgins
the first time ever the MDA, through the
NRFT, is able to commission home-grown
Habilitation and rehabilitation
research which will be of direct benefit to
Research into habilitation and
New Zealanders living with neuromuscular
rehabilitation is expected to result in
conditions.
improved opportunities for people living
At its meeting in August 2011 the MDA’s
with neuromuscular conditions to live well
National Council decided upon the following
with the best possible quality of life, and
research priorities:
to function optimally given their condition.
Prevalence and incidence of
neuromuscular conditions
Having an understanding of the New
Zealand prevalence and incidence of
neuromuscular conditions can assist in
both planning for the future delivery of the
MDA services, and in making the case for
improved delivery of externally provided
services.
Standards of care
Research into internationally recognised
norms of best practice and standards of
care for people living with neuromuscular
conditions, together with the extent to
which New Zealand service delivery is
consistent with these standards and norms,
will assist in advocating for improved policy,
resource allocation and clinical decisionmaking plus the development of managed
clinical networks. The result of all of this will
be people with neuromuscular conditions
receiving the best possible quality of care
irrespective of where they live.
This could include ensuring that people
are supported to live “ordinary lives” with
valued social roles, to pursue their goals
and interests, to participate as fully as they
wish in their communities, and to be fully
accorded all of the rights citizenship that
people without disabilities are able to take
for granted.
Treatments and cures
Given the level and type of research
available through the Richdale Charitable
Trust, and it also has its own reserves in
the form of the Francis Oliver bequest and
the proceeds from a 2007 charitable golf
tournament.
The NRFT trustees are Associate Professor
Leigh Hale, Dr Graeme Hammond-Tooke, Dr
Alexa Kidd, Lindsay McGregor, Dr Kathryn
McPherson, Dr Richard Roxburgh and Arthur
Young. Together they represent an impressive
array of clinical, academic and business
backgrounds, and have all of the skills needed
to ensure that we get the best possible value
from the funds available. The MDA is very
appreciative to all of them for giving so freely
of their time, experience and expertise.
By the end of March 2012 we hope to
have identified the successful proposals and
I’ll keep everybody posted.
that is being conducted internationally and
the current limited availability of resources,
research into treatments and cures are
considered to be of lesser priority unless
it can be clearly shown that the results
are likely to have a direct benefit to New
Zealanders living with neuromuscular
conditions and that it extends international
research already underway.
The NRFT is now inviting proposals from
universities, other research agencies and
qualified individuals, which address the
MDA’s research priorities. It has developed
protocols for assessing research proposals
and an associated funding application form.
Assessment criteria include: significance
first instance it will have recourse to funds
E noho ra
Chris Higgins
Chief Executive
MDA news
From the Chairperson
Kia Ora!
needs of individuals living in that community
intersect? There appeared to be not just a
At our recent National Council meeting
collision of interests but a total road block!
we spent some time chatting about the new
In the end, my son called for and attended
proposed plan for rebuilding the Christchurch
a meeting at Council’s offices with their
CBD. The notable thing about the comments
advisers. Rolling up in his wheelchair and
was the enthusiasm surrounding the
giving a very clear explanation of his needs
suggestion that there will be walkways, light
did the trick.
So, we are hoping that our son’s needs
rail and public spaces with the opportunity
for full accessibility. Indeed, this is a great
as an individual will succeed in this case.
opportunity to recognise that all disabled
However, an individual’s needs to live
people should be able to participate in
independently in their community cannot be
community life.
The participation of disabled people in
MDA Chairperson,
Helen Melrose
in the United Nations Convention on the
of energy and courage is required to chip
away and ensure that this right is achieved.
community life is most important and its
importance is recognised as a key outcome
taken for granted and an enormous amount
maintaining this tension.
On a personal level, the issue of building
There are many people who have worked
hard on an individual basis to remove barriers
Rights of Persons with Disabilities, which New
accessibility has recently played a far too
in our community and with some success, but
Zealand ratified in September 2008. Article
prominent part in the life of our family. We
often at some considerable personal cost.
19 specifically recognises “.... the equal right
have had a frustrating experience when
of all persons with disabilities to live in the
dealing with planning laws and the need to
meetings there are often five or six of our
community, with choices equal to others,..”
obtain resource consent to remove an existing
members in wheelchairs and other Council
house and build a new fully accessible house
members having a need for accessible
as follows: “. . the Convention requires us
for my son and his wife. The property is in a
accommodation. It is significant that there
to make sure that disabled people can, on
heritage area, but the category was rather
are choices available for us to provide
an equal basis with others, progressively
low in that it focussed on streetscape only,
accommodation for our members at many
become more able to move in and around
i.e. the appearance of the property from the
places throughout New Zealand. The
their own homes, communities and the wider
road. After searching in our local area for
accommodation is not always perfect, but
built environment, and take part in family,
some months for a suitable house to alter,
I can’t begin to imagine that our meetings
community, education, work, and the public
we purchased a rather rundown former
at various cities throughout the country
life of the country.”
state house. We came to the conclusion
(including the proposed meeting in Invercargill
that it would be easier to build a new house
in February) would have been possible a few
the issues surrounding accessibility to
(inspired by the experience of Roger Loveless,
years ago.
buildings and the built environment including
one of our National Council members), rather
housing and mentions on its website, www.
than alter an existing house. We provided to
building at Taylors Road. As we have
odi.govt.nz , the lack of awareness and
Council a design for a house that was totally
mentioned, the building is non-compliant
knowledge among “...designers, building
compatible with the surrounding houses in
from an accessibility point of view. It would
trade practitioners and building control
the street, on a levelled section requiring
require in excess of $100,000 to upgrade it,
practitioners of the needs of disabled people
some excavation, but not a lot. This should be
and this just does not seem a sensible use
and the ways disabled people interact with
straightforward, we thought!!!! But, it was
of the Association’s money and resources.
the built environment.” They also mention
not so easy and some eight months later (and
We are endeavouring to sell this building
that research has shown that the current
great expense), we are nearly there.
and find somewhere that will work better
The Office for Disability Issues comments
The Office for Disability Issues recognises
When we hold our National Council
This brings me to an update on our
I was staggered that the emphasis in
for us. Hopefully, over the next few months,
the decision making process was all about
we will find a buyer for our existing building
the street appearance and initially there
and find somewhere, fully accessible, for our
collision of affordability and accessibility.
was no emphasis given to the disability and
Association to live!
The Office for Disability Issues comments
accessibility issues. The question I had was
On a more general level, I encourage you
that there are significant vested interests in
- where do general community needs and
all to look at the United Nations Convention
housing stock in New Zealand is not meeting
disabled people’s housing needs.
A further issue identified is the apparent
IN Touch // SPRING 2011// PAGE 15 MDA news
... continued from the previous page
on Rights of Persons with Disabilities (www.
As an individual, you can make a
odi.govt.nz or www.hrc.co.nz/disabled-
difference in our community on a very
people/convention-on-the-rights-of-persons-
personal level, but you can also make a
with-disabilities ). New Zealand submitted
difference at a wider community level. I
its first report on implementing the United
strongly encourage you to do this.
Nations Convention in March 2011. The
Human Rights Commission is one of the
E noho ra
agencies charged with monitoring our
Helen Melrose
Government’s response to the Convention.
A Convention Coalition of six organisations
representing disabled persons has been
appointed and funded by the Government
to provide a parallel report. The Disabled
Persons Assembly is one of these. Auckland
Disability Law is also involved with preparing
a shadow report.
Your involvement and comments will
be most welcome in each case. To contact
Auckland Disability Law, email:
[email protected] . To contact the Coalition,
email: [email protected] .
Chairperson
Do you or a family member
have myotonic dystrophy?
We encourage you to join the
Myotonic Dystrophy Foundation – a
US based not-for-profit organisation
dedicated towards leading and
mobilising resources toward effective
management, treatment and a cure
for myotonic dystrophy. It’s free and
each individual or household signing
up receives a ‘Family Welcome Pack’
that includes Dr. Peter Harper’s book
Myotonic Dystrophy: The Facts,
printed materials from the MDF web
site, a medical alert wallet card and
medical history sheet, and “Cure
Myotonic Dystrophy” bracelets
and MDF pens. Go to http://www.
myotonic.org/ to sign up.
MDA news
National Service Leader joins MDA team
A big welcome to Claudine Young who joins the team at MDA’s National Office in the brand
new position of National Service Leader. This is a full and exciting role, responsible for service
development and improvement, helping to grow the MDA’s membership base, lobbying for
improved services, providing information and helping to improve the MDA’s reputation.
Claudine qualified as a social worker in
concerns of families caring for someone with
1995 and has a Diploma in the Management
a disability. I aim to work alongside people in
of Not for Profit Organisations
an empowering and supportive way, treating
people with dignity and respect. My goal is
She has worked in the not-for-profit sector
since qualifying, managing and developing
to support people to lead fulfilling lives with
services for people with a variety of disabilities
unrestricted opportunities to achieve their full
in the community.
potential ”
Claudine and her husband and daughter
Claudine brings considerable experience of
working within a membership organisation,
moved to New Zealand from the UK in 2005
working with volunteers and members and
with plans only to stay for two years – her
branch committees to provide advice and
husband was on an exchange with the New
support to people.
Zealand Navy.
“After only six weeks we sat on Takapuna
Claudine worked as a National Manager
for Mencap in the UK and as a Regional
Project officer with IHC here in New
Zealand. While working for Mencap,
Claudine had responsibility for developing
and managing advice, information and
support services to people with intellectual
disabilities and their families
Claudine began work at the MDA National
office on the 17 August and her first priority
is the implementation of the new national
Fieldwork Practice Framework.
“The framework will enable us to
Claudine Young
ensure that we are providing the best quality
support and service to people across the
country. It will ensure that our support
is consistent and that our policies and
procedures are fair and clear to everyone,”
Claudine says.
“Through my career and life experiences I
have an understanding of the needs of people
beach eating fish and chips and looked at
each other and said lets not go home, let’s
just stay here, and here we are…..”
Claudine is a keen gym goer, enjoys horse
riding and is an avid reader of police/murder
thrillers. Last year a new hobby was to embark
upon a veggie garden – not so successfully –
hundreds of lettuce and not much else, so any
advice or tips would be most welcome.
and challenges facing individuals with a
disability or condition and of the
NATIONAL COUNCIL
MUSCULAR DYSTROPHY ASSOCIATION OF NZ 2011
CHAIRPERSON Helen Melrose
VICE CHAIRPERSON Lindsay McGregor
YOUNG (RANGATAHI) REPRESENTATIVE Stacey Christie
Other Elected Members:
Branch representatives:
Mary Burn
Claire Siddens
Heather Browning
Liz Mills
Derek Woodward
Amy McMullan
Roger Loveless
Raewyn Hodgson
Huhana Hickey
IN Touch // SPRING 2011// PAGE 17 MDA news
For parents of children diagnosed
with a neuromuscular condition
“...... we could talk about the same situations relating to having a child with a
neuromuscular condition – it was great, they really understood.”
Raising a child with a neuromuscular condition can be an overwhelming experience .......
MDA friend, father and qualified
counsellor, Rodger Alexander is currently
WIN a $50 Westfield shopping
running workshops that have proven to
voucher just for telling us what you think!
be useful in supporting parents of recently
We are thinking about making some
diagnosed children. Rodger’s workshops
changes to the MDA website and we
help parents to find ways to carry on with
want to hear your thoughts about the
their usual daily activities and life plans and
current site and what you would like to
not centre everything around their child’s
see more of. As a way of saying thank
diagnosis to the detriment of the family as
you, complete the short survey online
a whole.
before 26 September 2011 and be in the
The group is limited to a small size so if
draw to win a $50 Westfield shopping
you’re interested please speak to your MDA
fieldworker or contact Miriam by emailing
her on [email protected] or calling 815
0247 or 0800 800 337
voucher.
Workshop counsellor and friend and
father of children with Friedreichs ataxia,
Rodger Alexander
About the Facilitator: Rodger
currently the other two boys are 34 and 30
Alexander is the father of three boys
and live together in their own house with a
diagnosed with Friedreich ataxia in 1988
couple of cats and an energetic dog.
and 1989. He is also a trained teacher and
Donations to the MDA to help meet
counsellor who has been working with
the costs of the workshops are gratefully
children and their families across a wide
accepted
range of concerns and problems. Rodger
If you’re happy to include your contact
details as part of the survey we can enter
you into this draw to WIN a $50 Westfield
shopping voucher. If you would prefer to
keep your survey anonymous, simply don’t
fill in your details - we respect your privacy.
Please note: Staff employed by the MDA
are not eligible to enter the draw, (but we
would still love to know what you think).
Be in quick the draw closes 26
September 2011, go to www.mda.org.nz
and Lyn have been married for 42 years.
and click on the link on the home page.
Their oldest son died in 1997 aged 23 and
We Care! update for NZ Carers Alliance
The We Care! awareness campaign was
campaign on Facebook; this community
successfully launched by Minister Turia at
is growing daily with a steady flow of
Auckland’s Aotea Centre on May 23rd 2011.
comments posted on their Facebook Wall.
Work continues through Phase I of the
Please encourage your network of carers and
campaign.
supports to “Like” the campaign at www.
Since the campaign’s launch more
than 520 carers and supporters have sent
facebook.com/wecarenz
During July every politician, including
emails to John Key. Many of these emails
John Key, received a copy of the Winter issue
to respond, indicating his party supports
relate to the financial stresses that carers
of Family Care NZ which included an article
an allowance for carers (the first party to
are enduring, and frustration at the lack of
about the We Care! campaign, along with a
formally indicate this).
appropriate supports available to them. Visit
covering letter explaining the purpose of the
www.wecare.org.nz to read these emails.
campaign and the desired outcomes. Peter
campaign is a “work in progress” up to and
More than 14,000 friends “Like” the
Dunne of United Future was the first leader
through the general election.
The Alliance Executive believes the
Events to diary
How to access
counselling
Waikato Health & Disability Expo
Friday 16 September (9am-4pm)
and Saturday 17 September
(10am-3pm).
Claudelands Event Centre
Hamilton
Counselling can help you deal
with a number of problems; grief
and loss, trauma, anxiety, depression,
relationships, parenting, communication
and adjusting to a new situation.
Counsellors will help you to tell your
story and develop responses that will
work for you. They encourage you to
find answers of your own. You will get a
non-judgmental, understanding, caring,
supportive professional. Counselling is
confidential. What is said in the room
stays in the room unless you agree
otherwise, except in a situation where
you are a danger to yourself or others or
where counsellors have a legal obligation
to inform others.
Some community-based agencies, for
example Home and Family Counselling
and Lifeline Face-to-Face counselling
sessions don’t set fees for their services
but instead ask clients to make a
donation, which they can afford, towards
their counselling time. Many counsellors,
however do charge a fee for their services
and funding for this can be sourced
through WINZ if you are receiving the
Disability Allowance or are on a low
income. You are limited to a set amount
of counselling sessions via this method.
The Family Court arranges free and
confidential counselling for couples
who are having problems with their
relationship, or who are separating and
need help reaching agreement on issues
such as arrangements for the care of their
children. Counselling is also available for
parents and guardians of a child if they
are unable to reach agreement on an
important issue concerning the child.
Family court will fund a maximum of six
hours of counselling.
Telephone counselling is a process that
enables callers to work through issues
affecting their life and reaching decisions
that are constructive and positive. It
may be in moment of crisis, but need
not be - there are times in everyone’s
life when even small problems can seem
insurmountable. Telephone counselling
is not “problem solving” and it is not
NZ Neuromuscular Disease Registry
Launch
12.30pm Tuesday 27 September
Clinical Education Centre
Auckland City Hospital
All welcome
RSVP [email protected] by
16 September
giving advice or advocating a particular
course of action. It is rather, about
forming an empathic and non judgmental
relationship in which the caller feels safe
to talk about anything, often in a way
that is not possible with family or friends.
By listening attentively, the telephone
counsellors can assist the caller to express
thoughts and feelings and can provide
an opportunity to explore them fully. In
this way the caller can see things more
clearly or from a different perspective. It is
a way of facilitating choice or change and
supporting the caller’s decisions.
Anyone can use telephone counselling
– Lifeline provides a 24 hour service, 365
days a year and can be contacted on
0800543 345
http://www.lifeline.org.nz/
The Lowdown is an interactive website
focusing on youth depression. This site
includes e-therapy and online counselling
services as well as text message
counselling.
http://www.thelowdown.co.nz/
Youthline provides counselling and
support for young people age 14 – 30
years. They can be contacted on 0800 37
66 33
http://www.youthline.co.nz/
For the kids: 0800WHATSUP is a free
phone counselling service for anyone aged
5 to 18 years and can be contacted on
08009428787
http://www.whatsup.co.nz/
South Island Children’s Camp
Monday 10 October – Thursday
13 October
Hanmer Springs
Contact Eris at the Canterbury
branch office on 0800 463 222
HOG/MDN Ride
12 November
Counseling Workshop with
Rodger Alexander Saturday 15 October
10am until 3pm
CCS Disability Action
Gt King St Dunedin.
Southern Branch Christmas Lunch
Saturday 26 November
12noon
Waihola Cafe & Bar
Wellington branch Christmas Party
Sunday 20 November
Venue to be confirmed
Muscular Dystrophy Northern
Christmas Party
Sunday 27 November
Pukekohe Cosmopolitan Club
Disability Studies: Every body in
Inuaugural Conference
University of Otago, Dunedin
Sunday 27 November – Wednesday
30 November 2011
IN Touch // SPRING 2011// PAGE 19 Your condition in review
Ataxias
Including cerebellar or spinocerebellar ataxias
What are Ataxias and Cerebellar
or Spinocerebellar Degeneration?
devices may include a cane, crutches, walker,
or wheelchair for those with impaired gait;
devices to assist with writing, feeding, and self
Ataxia often occurs when parts of the
care if hand and arm coordination is impaired;
nervous system that control movement are
and communication devices if speech
damaged. People with ataxia experience
is impaired. The list of the ‘SCAs’ keeps
a failure of muscle control in their arms
growing. These are the hereditary ataxias,
and legs, resulting in a lack of balance
that are due to dominant genes, and that can
and coordination or a disturbance of gait.
be passed from one generation to the next.
While the term ataxia is primarily used
They affect the ‘balance’ part of the brain:
to describe this set of symptoms, it is
the cerebellum. (Cerebellum means ‘little
sometimes also used to refer to a family
brain’, and it sits in its own compartment at
of disorders. It is not, however, a specific
diagnosis.
Most disorders that result in ataxia
the back of the head.) Before we were able to
Cerebellum helps provide smooth,
coordinated body movement
cause cells in the part of the brain called
the cerebellum to degenerate, or atrophy.
Sometimes the spine is also affected.
The phrases cerebellar degeneration and
tell the different genes apart, there were just
three groups we used to speak of: the ‘pure’
cerebellar ataxias, the ‘complicated’ ataxias,
Spinocerebellar Ataxia
There are many types of spinocerebellar
and ataxia with loss of vision. But with the
sophisticated genetic testing that’s been
developed over the past couple of decades
spinocerebellar degeneration are used to
ataxia and about 30 different gene
describe changes that have taken place in
or so, it’s been possible to give each different
mutations have been found.
form its own name, starting with the first,
a person’s nervous system; neither term
Persons with spinocerebellar ataxia
SCA1, and now up to SCA33.
constitutes a specific diagnosis. Cerebellar
experience a degeneration of the spinal
and spinocerebellar degeneration have
cord and the cerebellum, the small fissured
many different causes. The age of onset of
signs and symptoms we see in the patients
mass at the base of the brain, behind the
the resulting ataxia varies depending on the
are confined to defects in cerebellar function.
brain stem. The cerebellum is concerned
underlying cause of the degeneration.
(A ‘complicated’ ataxia might include
with coordination of movements, so
also epilepsy, for example, or a peripheral
the “wasting away” of this critical
classified by chromosomal location and
neuropathy.) In order to make normal
control center results in a loss of muscle
pattern of inheritance: autosomal dominant,
movements – walking, skipping, talking,
coordination. Atrophy in the spine can bring
in which the affected person inherits a
whistling, kicking a ball, writing, playing an
spasticity.
instrument, pouring a cup of tea, sewing,
Many ataxias are hereditary and are
normal gene from one parent and a faulty
Unfortunately there are no known
We call a cerebellar ataxia ‘pure’ when the
and so on – the cerebellum has to be working
gene from the other parent; and autosomal
cures for any of the different types of
recessive, in which both parents pass on a
properly. The word ataxia comes from the
spinocerebellar ataxia, which is a progressive
copy of the faulty gene. Among the more
Greek: a taxis means ‘without order’. The
disease (it gets worse with time), although not
common inherited ataxias are Friedreich’s
cerebellum maintains a proper ordering of
all types cause equally severe disability.
all the complicated movements we need to
ataxia and Machado-Joseph disease –
Spinocerebellar ataxia type 3.
Treatments are generally limited to
make. In the SCAs, the cerebellum gradually
softening symptoms. A person with
loses cells (neurons), its function deteriorates,
spinocerebellar ataxia may end up needing
that can cause acquired ataxia include
and gradually movements become less
to use a wheelchair, and eventually they may
stroke, multiple sclerosis, tumours,
ordered, and eventually a neurologist can
need assistance to perform daily tasks.
diagnosis a cerebellar ataxia. A brain scan
Ataxia can also be acquired. Conditions
alcoholism, peripheral neuropathy,
The treatment of in-coordination or ataxia
shows that there’s loss of tissue of the
metabolic disorders, and vitamin
mostly involves the use of adaptive devices
deficiencies.
cerebellum, but other brain regions appear
to allow the affected individual to maintain
little, if at all affected.
as much independence as possible. Such
Medications or other therapies might
Cerebellar and spinocerebellar
ataxia
On the trail of a gene
Auckland Hospital medical geneticist, Dr Mac Gardner kindly contributed
the following report on ataxias, in an effort to provide additional detail
on the ataxias, cerebellar ataxia and, in particular, the work he is involved
in studying a newly discovered type of spinocerebellar ataxia, SCA 30.
Some of the SCAs are (relatively
be other families with SCA30. They’ll be
speaking) common, some are rare, and
able to advise patients and families more
some are known (so far at least) in just one
accurately; in the long term, of course the
family. SCA30 fits in the latter category.
hope is that understanding the nature of
This is a pure cerebellar ataxia, coming
the gene will give insight into ways that
on very gradually in middle age, and so
its effects upon the cerebellum could be
gradually that people may not recognise it
prevented, or at least mitigated.
for quite a while, and the person may still
be appropriate for some of the other
symptoms of spinocerebellar ataxia,
which could include tremor, stiffness,
depression, spasticity and sleep disorders,
among others.
The prognosis for individuals with
ataxia and cerebellar/spinocerebellar
degeneration varies depending on its
underlying cause so it’s important to, if
possible, attain an accurate diagnosis.
The first ataxia gene was identified in
1993 for a dominantly inherited type. It
was called “Spinocerebellar ataxia type
1” (SCA1). Subsequently, as additional
dominant genes were found they were
called SCA2, SCA3, etc. Usually, the
“type” number of “SCA” refers to the
order in which the gene was found.
It’s very typical in research, but always
be able to get around, although needing
pleasing to acknowledge, that family
support of some sort, into old age. So it’s
members are so often very willing to be
one of the less severe forms of SCA. This
examined and to give samples, that might
one family is spread across two Australian
be of benefit in future to others. We
states, and a family member came along
wanted to study skin cells, which can tell us
to one of the genetic clinics we had in
more, sometimes, than looking at blood;
Victoria in the early 2000s. We realised
but this needs a wee piece of skin to be
they must have a ‘new’ SCA when the
removed. I contacted two ladies from this
family study showed that this particular
family, and was prepared to go to Australia
SCA had its gene on chromosome number
to visit them at home, and to take skin
4, and none of the other known SCAs
biopsies, if they were willing. Not only
were on that chromosome.
were they willing, but they both offered
So now we have a spot on chromosome
to make long trips to Melbourne, and my
4, and we believe the SCA30 gene is sitting
former colleagues at the Murdoch Research
in there. It’s becoming a bit easier, these
Institute took the necessary samples, and
days, or should I say a bit less difficult,
sent them across to Dunedin. Thank you,
to track down genes. That’s what we are
ladies.
trying to do at the moment with SCA30.
DNA samples from family members came
Dr Mac Gardner
across the Tasman, and are now being
Medical Geneticist
studied in the lab of Professor Stephen
Robertson at Otago University. We are on
Northern Regional Genetics Service,
the trail of the gene, or we think we are:
sometimes trails can be misleading, and so
and
we can’t say yes, until we’ve really nailed
Clinical Genetics Group,
the case.
Otago University
When (I won’t say if!) we do actually find
the gene, then neurologists and geneticists
and formerly
Genetics Health Services Victoria
around the world will be able to add this
gene to the list of SCAs for which they can
make a definite diagnosis. Surely, there will
My trip to Singapore
BY SERENA LEONG-TEO
Hi, my name is Serena and I was diagnosed with spinocerebellar ataxia type 3 some nine
years ago.
Initially, it was fine. I could still do things
normally with some things requiring more
concentration, but about three years ago,
things started to go downhill. I could not
go up or down stairs unless there was a
handrail. I started walking ‘funny’ and I could
not go where I wanted to go (I would walk
towards it, but end up somewhere else and
it would take many course corrections to get
there) I had lots of problems balancing and
was prone to falls. The thing was that I could
still walk but it was becoming difficult for
long journeys and if I had to walk quickly.
Bearing all these in mind, we planned
a trip to Singapore. I came from Singapore
about 12 years ago and the last time I went
to Singapore was in 2004. Things have
changed since I last visited the country. They
are more mobility friendly now and I see
more people traveling around in wheelchairs.
Let me share with you the highlights of
my recent two week trip to Singapore in
June and July 2011.
Firstly, when we booked our tickets on
Jetstar, we had to include the fact that I
was traveling in a wheelchair. Since I could
still walk, I indicated that I did not need
a wheelchair on board. Note that Jetstar
requires each person in a wheelchair to have
a caregiver who is over 18, which in my case
was my husband.
Next was accommodation. We were
fortunate to have a friend rent us his
apartment as he was traveling at the time
we would be there. My husband asked if it
was wheelchair friendly and to those not
in a wheelchair, it was friendly enough.
The elevator stops at each floor, so that
was not a problem. The problem was there
was a slight step upwards to get into the
apartment, so either you have a ramp or
someone to tilt your chair and push you in.
Inside was nice and spacious enough. Now
there was just a little dip going into the
Serena and her daughter aboard the Mass Rapid Transit train in Singapore
kitchen and upon going in, I found that I
crowds and queues. My husband queued to
could not get out, not without a little push.
get our tickets, and then we were let into the
There were two bathrooms cum toilet and
station by the bigger gate (for wheelchairs).
both had a separate shower area, which was
We quickly spotted the elevator to bring us
good, but the second bathroom was a little
up to where the trains were. Initially it was
small for manoeuvring a wheelchair. Anyway,
confusing where to take the train from as
since the apartment was not so big, I walked
they were going both ways, but all you need
most of the time, except when I was tired
to do is ask and someone will help you. (The
and my balance was badly off.
people in Singapore are friendly, willing to
Then my husband wanted to try taking
the MRT (the train or Mass Rapid Transit). To
help and can speak English.)
When you get on board, there are spaces
move from where we were staying to the
beside the doors which are for you to park
nearest MRT station was a half-hour walk,
your wheelchair. There are limited seats, so
a 15 minute bus ride or a ten minute taxi
your caregiver might have to stand the whole
ride. The walk was too long in the heat and
journey or sit somewhere further from you.
buses were not mobility friendly, so we took
We were traveling to Orchard Road, the
a taxi. Taxis are relatively cheap. It only cost
heart of the city. It took us about an hour
us $5 to get to the MRT station. My manual
but it cost only about $2 per person. When
wheelchair was light, compact and breaks
we got off the train, we were completely
down into pieces, so it was relatively easy to
lost! There were heaps of people and
transport it around.
everyone seemed to know where they were
At the MRT station, you begin to see
going. I parked myself at a quieter spot and
Living with spinocerebellar ataxia
While in Singapore, Serena and the family spent a day on Sentosa Island at Universal Studios
my husband went to try and get some refund off our tickets. He
table to finish before you can occupy their seats. Anyway, we found
joined three wrong queues before he found a nice lady who left her
some seats at the end of a table and the people occupying it were
place in the queue to help him.
just leaving. Whew, step 1 accomplished. Next, my husband went
After we got our refund, we decided to try and head upwards,
around buying food while I stayed put at our seats. There are heaps
towards street level to see where we were. We asked a nice looking
of choices for food, so you may like to take a look before you find
young girl who told us to go to the third level of the Ion building. On
your seat.
the third level, we could not find the exit, so we decided to go to the
After lunch, we had to go to a relative’s place. So we went to look
toilets. The toilets for handicapped people were clean, large and with
for the taxi queue. This queue had priority for people in wheelchairs,
good handrails. I did not have any problems in the toilet.
so we got a taxi pretty quickly. Not so when we came back from
Since we could not find a way out, we decided to find a place to
have lunch. Most buildings in Singapore have a food court, so we
headed to look for the food court by asking. Soon we found it, but
Universal Studios. We had to wait two hours to get a taxi and only
got home after midnight!
Our trip to universal studios was plagued by delayed transport.
it still crowded despite the fact that it was closer to 3pm. Eating at a
It started when we left in the morning to catch a taxi to vivo city.
food court requires two steps; first, is to find a place to sit, and next,
Usually, we just wait 5 to10 minutes and an empty taxi would come
to queue at the store for your food. It was stressful trying to find a
cruising by. That day we waited for 45 minutes and had to call
place to sit in a wheelchair. You have to move through narrow spaces
(phone) for a cab before we got one. Since we had arranged to meet
and find a table where you won’t block anyone. Due to the crowds in
my sister, we decided to go on, despite being late.
Singapore, sometimes you have to wait for the people eating at the
Then we found out that the monorail into Sentosa Island (where
Universal Studios was) was temporarily out
of order. So since I was in a wheelchair, they
decided to walk across and push me along.
(It was only a 20 minute walk under covered
walkways with travelators even!)
Universal Studios was crowded! My
husband was pushing the wheelchair and
banged the ankles of a few people. In the
end, I had to control the speed at which he
moved by slowing the chair by hand. In the
beginning, I got out of my chair and queued
with everyone else for the rides. Then for one
of the rides, my husband pushed me up and
asked whether there were stairs I had to climb
and guess what – we were put in through the
express route. From then on, we realised that
if you are in a wheelchair, you can go with
your immediate family down the express lane.
I tried most of the rides except the scary ones
The above image shows one of the taxis queues Serena and family contended with in
Singapore. You can just see Serena’s wheechair at the fair right edge of the image
where we got to watch the fireworks.
Overall, it was a good trip. One thing to
luggage. We waited at the air bridge for my
wheelchair and it did not arrive! If you need
like the rollercoasters. The staff at Universal
note is that it might be a good idea to wear
a wheelchair, you have to request one from
Studios take good care of you, giving you
compression socks or flight socks on board
the airport to bring you from the plane to
priority, telling you where to sit and even
the plane, especially if you are not moving
the luggage collection area before you can
pushing your wheelchair up close to you so
a lot. I did not wear the socks on the way
collect your own.
you don’t have far to walk to and from where
there and I had swollen feet. Buying the
your wheelchair is parked. The only thing is
socks in Singapore, I wore them for the flight
disability is a possibility, not impossibility.
that you have to transfer yourself (or with the
back and my feet did not swell. Another
Just do your homework, go with a spirit of
help of your caregiver) into the machines. We
thing to note is that when your wheelchair is
adventure, ask for help if you need to and
stayed at Universal Studios until closing time,
checked into luggage, it comes out with the
enjoy yourself!
Well, I discovered that travelling with a
Keeping yourself occupied -
BY JOHN FREEMAN
MDA member, John Freeman, who is retired and lives in Cairns, sent in some thoughts to
share with the MDA community on how he’s coped with SCA throughout his life.
year earlier than in Sydney, a neurologist
hasn’t and my mother always had very poor
others must have. Without knowing what it
diagnosed something was wrong but it
co-ordination. I didn’t see her in her final
was, they used to say “you run like a girl, you
wasn’t until I was diagnosed properly at
years (she was in England) but my father said
throw/catch like a girl.” This was not just at
Concorde Hospital, in Sydney, when I was 40
he had to do everything for her; I suspect she
one school, I went to lots from one side of
that it was found to be SCA. The diagnosis
may have had SCA.
the world to the other (excuse the sexism but
was a bit of a relief, although the future
this was the 50’s and kids used to talk like
wasn’t so good. It was good to know that
government, very generously, bought me
this). I know my hand/ eye co-ordination and
my senses were right - it was also good
an electric wheelchair but I find it a bit hard
balance wasn’t as good as others so when
to be told by the doctor that my condition
to negotiate; difficult steering, avoiding
teams were chosen, I was always last, often
wasn’t caused by anything I’d done.
obstacles, doorways and driving into disabled
When I was at school I didn’t notice but
with cries of “do we have to have Freeman”?
I thought something was wrong, even in
I had a son who told me he had felt the
same as I had in my 20s. I sent him to my
I’m 62 now and I can’t walk at all; the
taxis or on buses.
I get sick of people telling me ‘You’ll get
my early 20s I was sometimes having trouble
neurologist but he couldn’t find anything.
better with practice’. I worked as a driver
walking in a straight line. When things
My SCA didn’t show up till after 30 but
once. Cranes, buses, semis - I drove green
happened, I thought maybe it was always
unfortunately my son died before he reached
trolley buses for Auckland City nearly 40
like this and I hadn’t noticed? In Cairns a
that age. One of my sisters has it, the other
years ago - I had plenty of practice! Even
Living with spinocerebellar ataxia
My life with SCA BY NICKIE BLAND
recommend. As with other neuromuscular
Hi, my name is Nicola Bland (Nickie). I am
52 years of age, live alone with my cat and
conditions, spinocerebellar ataxia is extremely
dog and have the dubious pleasure of having
rare, and it is wonderfully healing to be able
spinocerebellar ataxia.
to talk to people in a similar situation.
I used to attend a gym in order that
I thoroughly recommend that people
have at least one animal as they do not
I kept myself as fit as possible to avoid
judge and accept and love us for what we
degeneration. Due to the economic climate
are and not what they think we should be.
(which affects all people) exercise now has
As with all things, the more you give, the
to be done at home. I also do needlework to
more you get back.
keep my hand/eye co-ordination working as
well as possible. I used to do counted cross
Now to living with SCA. Any condition
makes you deal with your baggage and
stitch but as the opscillia in my eyes has got
become happy in your own skin. I was
worse, I now do tapestry where the design
misdiagnosed at 27 and revisited the
is already on the canvas, and the holes in
neurologists at 38 as I had been having a
the canvas are bigger. I also do patchwork/
lot of falls during my 30’s. Although I was
lucky that I can transfer as this enables me
appliqué. I attend a craft class once a week
uncoordinated as a child, no major alarm
to cook for myself, feed my animals, shower,
with eight other women, where I am the only
bells rang. So after 14 months of tests it
toilet and dress.
obviously disabled person.
was decided that I had spinocerebellar
In March I was fortunate enough to meet
I have neuropathy so the hospital
ataxia. This was a wonderful present for my
up with a couple of friends who had come
podiatrist keeps an eye on my feet, cutting
40th birthday.
over from the UK, and we came down the
my toenails at the same time for me!
Life is not too bad with spinocerebellar
Once I was diagnosed I was medically
East Coast to Lower Hutt. It was certainly an
retired from work. Until this happened they
eye opener to me what people deemed was
ataxia. The problems I have are usually of
made me use a walking stick, which I could
wheelchair accessible.
my own making, where I have stretched
never co-ordinate with. Inevitably, I was on a
I have attended a Muscular Dystrophy
too far or gone too fast -Whatever we have
wheeled walker within a very short time, and
camp and two Muscular Dystrophy
to live with it is amazing how quickly our
have been in a wheelchair for 6 ½ years. I am
Conferences, all of which I thoroughly
bodies adapt!
occupational therapists don’t understand - I
couldn’t find any. I was surprised, there was
but it’s very hard to meet anyone after
think you’ve got to experience it.
actually better support in New Zealand. I
and having family is good, otherwise you
don’t know about government, councils and
tend to become isolated. It’s good to have
to do with intelligence. If you put a piece of
agencies as I’ve not lived in New Zealand for
people that will do things for you, it’s really
rubber tube over a joystick and try to work it
more 30 years. Although I heard through
annoying when you know something is
from 6” away it might come close to how it
family and the MDA NZ organisation that
really simple to do and you can’t do it. I live
is for me to steer. It’s not until you lose that
Wellington Council took a group of disabled
alone and have no family in this country, I’ve
fine motor co-ordination and balance that you
people around town to show obstacles so
lost touch with most of them as they are
realise how fantastically clever the brain is,
Council could make the city more accessible - I
overseas. I do quite a lot on the computer,
doing all this and we’re not even aware of it.
think that is a brilliant idea. I don’t even think
put together models (making/using guides/
they’ve thought of an idea like that here,
things to help you) and other activities to
support agencies do my cleaning, well
indeed some of the things you come across
keep me occupied.
they clean the floor make the bed and do
make it seem they don’t even consider those
my washing every fortnight; no dusting,
things. While I wouldn’t expect the average
society, you start to become invisible. People
polishing or clearing cob webs. Except for
person to think of access - I never used to - I
stop seeing you and stop inviting you. (You
basins, sinks and the toilet, cleaning ends at
think designers/planners nowadays should.
can’t really blame them though, I know I’m
People don’t realise that its got nothing
I get meals on wheels and government
floor level. You have to get used to the fact
I now live in an independent unit at a
I’ve found when you’re no-longer part of
a hassle).
I should have read the signs but you don’t
that if you can’t do it and you’re not rich
retirement centre in Cairns, it’s warm here
you have to be grateful for what you get
so it doesn’t matter if I take ages to have a
think you will get that bad or maybe that’s
but I’m fortunate to get that and live in a
shower, and get dressed and I don’t get cold.
part of accepting it (slowly). You probably
I think if you had a relationship before
don’t prepare for it because things like this
Western country.
I looked for support groups here and
you became disabled it would keep going
rarely happen to people.
IN Touch // SPRING 2011// PAGE 25 Research and relevance
New potential treatment for FSH
Two papers were published in recent
is switched on in FSH which is toxic to the
weeks on possible approaches for treating
muscles. The importance of FRG1 in causing
FSHD using a disease gene silencing
the symptoms of FSH in humans is still
approach called RNA interference (RNAi).
controversial though, because it hasn’t been
The details emerged within one month of
proven beyond doubt that it is involved.
each other in the journal Molecular Therapy.
This research took advantage of natural
The two studies were performed by
processes in the body that regulate which
different teams of scientists: the Harper Lab
genes are switched on and which are
at The Ohio State University and Nationwide
off. When a gene is ‘switched on’, RNA
Children’s Hospital in Columbus, Ohio, with
‘photocopies’ of the gene’s code are made.
a collaborator in Modena, Italy; and the
The RNA moves outside the nucleus where
Gabellini and Chamberlain labs in Milan,
they direct the manufacture of proteins.
Italy, and Seattle, Washington, respectively.
DNA can be thought of as a recipe book in
Both papers have shown that it is
the library that you can’t take out. RNA is
possible to reverse the symptoms of
a photocopy of a recipe that you can take
facioscapulohumeral muscular dystrophy
home to cook something in your kitchen
(FSH) in a mouse model using a gene
(making the protein).
therapy approach. The techniques used
The new potential therapies involve
may also be applicable to other dominantly
switching off a gene so that the RNA copy is
inherited muscle conditions such as
not made. This is called “RNA interference”
myotonic dystrophy, oculopharyngeal
or “gene silencing”. It involves introducing
muscular dystrophy (OPMD), Charcot-Marie-
into the cell tiny pieces of genetic material
Tooth disease and some types of limb girdle
called “micro RNA” that are designed to
muscular dystrophy, congenital muscular
specifically switch off a particular gene.
dystrophy and congenital myopathy.
Although the strategy was similar in the two
FSH is caused by changes to a region of
DNA on chromosome 4 called D4Z4 that has
the same piece of DNA code repeated many
studies, the design of the microRNA was
different.
Both research groups tested their new
times. In healthy individuals the number of
potential therapy in the only available mouse
repeats varies between 11 and 100. People
model for FSH - the FRG1 mouse. These mice
with FSH have less than 11 repeats.
have increased levels of FRG1 and develop
Recent research demonstrated that
the repeated section of DNA contains a
muscle wasting and weakness.
Both studies reported that after the
gene called DUX4 and the reduction in the
RNA interference treatment, the mouse
number of repeats on D4Z4 changes the
muscles not only looked healthier under
way this piece of DNA is folded. This results
a microscope but their muscle size and
in the DUX4 gene being switched on and
strength was improved. For example in one
the DUX4 protein being produced which is
study they measured how long the mice
toxic to the muscle.
could run on a treadmill before they got
Although this is currently the most
tired. Untreated 12-week-old mice could
widely accepted theory about the
only run for about 15 minutes whereas
underlying mechanism causing FSH,
those that had been treated with the RNA
previous research has also shown that
interference were able to run for almost 25
neighbouring genes such as one called
minutes; on a par with healthy mice. One of
FRG1 may also be involved. It has been
the studies also included extensive toxicity
proposed by some researchers that FRG1
monitoring and they concluded that the
treatment appeared to be safe in mice.
This research is exciting because it proves
the principle that RNA interference is a
promising therapeutic approach for FSH.
Whether FRG1 is the correct target for
a FSH therapy is still uncertain and more
research is required to understand its role.
However, the authors of these studies
said that this technology could easily be
applied to other target genes such as DUX4.
Researchers are currently working to develop
a DUX4 mouse model that would allow this
to be tested.
RNA interference is very new technology
and although there have been promising
results from animal models, in particular
for neurodegenerative conditions, no drugs
have reached the clinic yet. Therefore, it may
be several years before it is ready for testing
in patients.
This strategy is similar to the exon
skipping that is in clinical trial for Duchenne
muscular dystrophy (see article on the facing
page). Both strategies involve delivering
small pieces of genetic material to change
the way genes function. The difference is
that for Duchenne muscular dystrophy a
gene is repaired, whereas with for FSH a
gene is switched off. The recent positive
results in the Duchenne clinical trials will
spur on researchers working on this strategy
and inform them on ways to move this
therapy forward to the clinic.
Research and relevance
Clinical trial for SMA
phase 1 clinical trials (in healthy volunteers
testing of the heart function) and the
Europe aims to establish if a drug called
and adults with another condition), which
effectiveness measured every six months, by
olesoxime is a safe and effective treatment
showed the drug was safe and well
assessing muscle function.
for spinal muscular atrophy type 2 and 3.
tolerated. These studies also determined
Phase 2 trials are designed to test how well
what dose to use in further trials. Based
years but after the first year the preliminary
the drug or treatment works as well as to
on results obtained in mice, it is hoped
results will be analysed. If the results are
continue safety assessments on a larger
that olesoxime could potentially be used
very positive, then all patients who were
group of patients.
to reduce progression of weakness in
taking the placebo will receive olesoxime
individuals with spinal muscular atrophy.
instead. If however after one year the results
This Phase 2 clinical trial in the UK and
Spinal muscular atrophy is a genetic
condition that results in progressive wasting
The trial involves 150 participants with
The study is planned to last for two
show olesoxime is no more effective than
and weakness of the muscles in the arms
spinal muscular atrophy type 2 or 3, aged
the placebo, the trial will be stopped. If the
and legs of infants, children and adults. This
between three and 25, in seven European
results are inconclusive after the first year
muscle wasting is the result of a shortage in a
countries who have had symptoms of spinal
the study will continue for the full two years.
protein called ‘survival motor neuron’ (SMN),
muscular atrophy since before they were
due to mistakes or “mutations” in the gene
three years of age.
which contains the instructions for making it.
During the trial participants will be
SMN protein is essential for the survival
randomly assigned to take olesoxime (at a
of motor neurons, which are the spinal cord
dose of 10mg per kg of body weight) or a
cells that connect with the nerves and control
placebo once a day as a liquid suspension
muscle movement. Without enough SMN
with food at dinner for two years. Neither
protein, motor neurons are gradually lost.
the patients nor the clinicians will know who
Studies carried out on cells grown in a
lab and in mice have shown that olesoxime
(previously referred to as TRO19622),
is receiving the placebo and who is receiving
olesoxime.
The safety of olesoxime will be checked
protects neurons and helps them to survive.
every three months with a series of blood
Olesoxime has successfully completed
tests and other tests such as ECG (electrical
How could the results of the trial
benefit those with the condition?
The results from this trial will determine
if olesoxime, when taken once-a-day, is
a safe and effective treatment for spinal
muscular atrophy. Further trials may then
be needed to test the long term safety and
effectiveness in more patients. If this clinical
trial is successful, olesoxime could potentially
be used to delay, or even stop further
progression of spinal muscular atrophy.
Success with exon skipping therapy for DMD
found in healthy muscle. There were also
a placebo. Neither the clinicians, participants
clinical safety and biochemical efficacy
indications that the new dystrophin was
nor their families will know who is receiving
from an “exon-skipping” study. The dose-
working correctly in muscle. However, the
the active drug or the placebo.
ranging study of intravenously administered
response to the treatment was very variable
AVI-4658 (now known as eteplirsen) in 19
from patient to patient. The study was
treatment, and either at 12 weeks (30 mg
patients with Duchenne muscular dystrophy
funded by the UK Medical Research Council
per kg group) or 24 weeks (50 mg per kg
showed the high potential for this to
and AVI BioPharma.
group). At 12 weeks and 24 weeks all of the
Published in Lancet in August was the
be a disease-modifying drug. The study
Following on from this successful UK trial
Muscle biopsies will be taken before
boys will do a six minute walk test and their
muscle strength will be measured.
demonstrated that dystrophin - the protein
AVI Biopharma have now announced that
missing in boys with Duchenne - was
they have started a clinical trial in the US to
The results of this trial should be
produced with no significant side effects.
test higher doses of the exon skipping drug
available in the middle of next year. It is
The trial involved delivering a ‘molecular
eteplirsen for a longer period of time.
intended that the results will be used in the
patch’ (AVI-4658) to the whole body by
In this new trial eight boys will receive
planning of a large, international phase 3
injection into the bloodstream. Three of the
the exon skipping drug for 24 weeks; half
trial that is expected to start in the second
trial participants had a strong response to
of them at a dose of 30 mg per kg of body
half of 2012. It will be this trial that will give
the 12-week treatment - one had almost a
weight and the other half at 50 mg per kg of
clear answers about the effectiveness of this
fifth of the amount of dystrophin normally
body weight. A further four boys will receive
treatment.
IN Touch // SPRING 2011// PAGE 27 Official Launch
of the NZ
Neuromuscular
Disease Registry
Legally mindful
Dr Huhana Hickey is an education and law reform
solicitor with recent experience at Auckland Disability
Law (ADL), a community law centre service that aims to meet the unmet legal needs
of Aucklanders with disabilities.
Huhana has direct experience in issues relating to disability. She was the sole
solicitor with ADL until February this year when she took on a new part time role in
education and law reform to try and concentrate on the legal issues rather than the
case law for Aucklanders with disabilities.
Article 6 - The Rights of Women and Girls with Disabilities
I am going to continue with discussing different articles of the UN
are often much worse off. Being a Maori woman with disabilities, I
know I face a lot of discrimination every day and it is exciting to know
Convention on the Rights of Persons with Disabilities (UNCRPD) and
I can argue through the Human Rights Commission if I feel I am being
so in this piece we are going to discuss the rights of women with
discriminated against because I am a woman, Maori and disabled.
disabilities which is in Article 6 of the UNCRPD. Article 6 states:
These articles are designed to help us to argue for our rights in our
1. States Parties recognise that women and girls with
disabilities are subject to multiple discrimination, and in this regard
shall take measures to ensure the full and equal enjoyment by them
of all human rights and fundamental freedoms.
2. States Parties shall take all appropriate measures to ensure
the full development, advancement and empowerment of women,
for the purpose of guaranteeing them the exercise and enjoyment
of the human rights and fundamental freedoms set out in the
present Convention.
In breaking this down in plain language, we can begin to
own countries and as New Zealand has signed up to the UNCRPD and
ratified it, they must make sure they change the law to include these
articles and help us to exercise our rights.
As another note, I no longer work with Auckland Disability Law,
however, they do have two lawyers there and if you need to reach
them, they are available on 09 2575140. I am sure the team at ADL
will be very happy to work with you and answer any queries you have
around human rights and the law. Next article I will focus on Article 7
which is the Rights of Children with Disabilities.
Dr Huhana Hickey
understand why each of these articles were put into the Convention
and what it means for us, the ordinary person out there.
The first recognises the rights of women and girls with disabilities
as they experience a lot of different discriminations both as women
and girls and as disabled - even women and girls of colour. This
bit tells us that the Government will make sure women and girls
have full and equal enjoyment of all human rights and fundamental
freedoms. In other words, if for instance a disabled woman wants to
adopt a child, under the current law, the Adoption Act discriminates,
but under the new changes being planned discrimination will be
removed and all women and men, disabled or not, will have the
ability to apply to adopt without discrimination.
The second part makes sure the Government empowers disabled
women and girls and guarantees equality and full human rights
protections as set out in the Convention. In other words no one can
stop you from your right to be employed, married, have children
or have an education. The Government also cannot prevent you
from your right to freedom of speech, freedom of movement and
freedom to associate with others.
This article was put into the Convention as some countries do
not give girls and women equal rights and disabled women and girls
IN Touch // SPRING 2011// PAGE 29 At ease
Ben Robertson shares his views on
life, opportunity and finding peace
One of the things that really annoys me is
when I’m completely ignored at the checkout.
This happened recently when I went to the
Ben Robertson
pools. Because my caregiver was pushing me he
l
got the attention and I received none - despite the fact
that I was the one who handed over the money. This is not only very
like, “I’m here, I’m willing to give you my money if I’m treated with
ineffective but it makes me feel as if I’m not good enough to receive
respect, otherwise I will go elsewhere”. If that fails to get their
attention. This got me to thinking about the best way to overcome this
attention then I’m sure it will get the attention of their bosses.
and I decided that next time I would speak my mind, it is certainly a
long process to overcome oppression but if enough people stand up
Body language is also important. Sit up straight and be alert.
for their rights then slowly the popular attitude may begin to change.
Demand attention, it is your right. Sure we may be slower, may have
Oftentimes the judgement that people make of people in
wheelchairs is that of one that is completely helpless. If we choose
difficulty hearing and be prone to dropping the occasional coin or two
but we are important people too.
to ignore this problem, as is often easier to do, then we are simply
On a lighter note - my dog won a years supply of dog food. My
reinforcing this judgement. However, if we reject this idea then we
can begin to make a change. There is no need to be rude as the other
mother entered Xas in the Purina competition to find the most helpful
person is normally unaware of what to do in these situations and
dog. Check out the third page of the Hutt news on 26 July!
doing the best that they can. But we have the option of simply stating
that the service is not good enough. I would suggest saying something
Ben
Letters to the editor
Registered or not?
Should conditions such as Friedreichs
ataxia be morally and ethically registered?
My name is Glenn Crompton and I have
… or could it be different?
I would be very interested to hear
feedback through In Touch from other
Powered Equipment
Do you, or does someone in your
lived with the condition all of my life. Now
people with genetic conditions or other
household, use powered equipment
at 38 years old and after a lot of family
people who think a genetic register for
that is essential to maintaining your
discussion on this topic, the same old
adults would help people better understand
health or keeping you alive? For
questions and answers come up: Should
the percentages of risk, if they choose to
example, do you rely on a ventilator
parents be registered to know if they, or
have children.
such as a BiPap or C-Pap machine?
their partner is a carrier of ‘the gene’ which
Knowing personally what the condition
can be passed on to their children and
holds for one, I would not wish this on my
can result in conditions such as Friedreichs
worst enemy.
ataxia? In my case, as I was adopted, my
Glenn Crompton
If so it is important that you do two
things,
a) notify your power company -
adoptive parents had two major dilemmas
that way they can provide a better
to deal with. Firstly, my highly sophisticated
service to you if there are problems
good looks - at least that was obvious when
with your electricity supply
they first saw me – and secondly the hidden
b) ensure that your equipment has
secret of having a child with Friedreich’s
a back-up power supply – talk to your
ataxia. I suppose it’s just the luck of the draw
doctor about this
GenY ine issue
Hi, I’m Stacey and I am the Young (Rangatahi)
Representative for the Muscular Dystrophy Association.
Stacey (above right) with friends Laura
and Tory, at the Massey University ‘Back
to School’ themed party.
Originally from Nelson, I moved to Wellington back
in February to study design at Massey University. There’s
into a sweat. My friends often insist that, they too,
a lot to think about for anybody, starting university and
should have a wheelchair.
moving to a new city, it almost feels like starting a whole
Only once have I had a real problem with my
new life. For someone with a disability, there is a lot
wheelchair. One morning I got an email saying that the
more to think about.
fashion magazine I had been waiting over a year for had
Before moving to Wellington, and even prior to my
arrived at the store. I had no classes that morning so I
acceptance into the course, there was a lot of planning
decided to go out and pick up the magazine. Realising my
involved, mostly on my parent’s part. Little things,
phone had a flat battery I decided to venture out without
like replacing a set of heavy push/pull doors into my
it still. I was about 30 minutes away from home, when I
apartment building with automatic sliding doors have
realised my wheelchair had a flat tyre. Staying surprisingly
made a huge difference to the ease of my life. The doors
calm and logical, after several more minor issues, including
ended up arriving late, a few weeks after I had moved in,
getting majorly lost, I managed to find a taxi, and the
so each time I wanted to enter or leave the building I had
driver ordered me a wheelchair taxi. As I waited for it to
to ask someone near me to help me through the two
arrive, everything seemed to be looking up. But then, it
sets of doors. Looking back, I must have met at least 50
rained! Not normal rain, this stuff was torrential. By the
different people this way. Even now, my flat mate asks
time the taxi dropped me off back at the apartment I
how I know so many people, and it’s simply because I
looked like I been swimming. Luckily the magazine was
talked to all of the people that helped me through the
amazing, so I like to think the morning’s events were
doors. That said, I am still glad for the automatic doors,
worth it. Some things others and I can learn from this are:
as I can now independently enter and exit, which is
charge your phone, carry an umbrella, and stay positive,
simply an underrated luxury.
it’ll soon be a funny memory to tell your friends.
Another item that has considerably increased my
It turns out my disability isn’t as big of an obstacle
independence has been my electric wheelchair. Coming
as I thought it would have been here. I have to say,
from a town just outside of Nelson, with a population
besides the wheelchair incident, the problems that I
of 12,000, everything was in close proximity, so I simply
have encountered have been experienced by most other
walked or drove everywhere. Wellington is obviously a
university students too. Having five different packets of
little bigger. Being without a car, and with the added
pasta, but no sauce, no meat and no vegetables, staring
addition of hills to walk up, I decided it would be silly
blankly into the pantry and wondering what to have for
not to use an electric wheelchair. It was a brilliant
dinner seems to be a common issue with students!
decision. It gives me a vast amount of independence. I
As well as university and my adventures as a student,
go everywhere all the time! In fact, I probably travel too
I am also the Young (Rangatahi) Representative for MDA.
far sometimes, as on occasion I will complain about how
To contact me regarding this or anything else, even just
cold the weather is while my friend, walking beside me,
to introduce yourself, please feel free to email me at
has taken off her jacket and scarf and is about to break
[email protected]
IN Touch // SPRING 2011// PAGE 31 in touch // spring 2011// PAGE 32
A neurologist’s
knowledge
How to ask the right questions when
delivering a genetic diagnosis
In the Neurogenetics Clinic at Auckland City Hospital we are
looking at ways to improve our service. One issue that has been raised
is how people and their families receive the news that they have a
genetic condition in their family. We understand that sometimes
this can be traumatic and we want to find ways of diminishing that.
We have therefore decided to do a survey of people who have had
neurogenetic diagnoses in the last few years in order to find out more
about people’s experiences. We have chosen two particular conditions
- namely Huntington’s disease and myotonic dystrophy - because these
Richard Roxburgh FRACP PhD
Consultant Neurologist
Neurogenetics Service
two conditions are well represented in the clinic and it may help us
to understand whether particular issues are different for people with
different conditions.
To allow people to express themselves freely we have devised an
anonymous postal questionnaire and will hopefully be sending this
out in the next few months. The ethics committee have suggested
that before we send out the questionnaire we get feedback from
the Muscular Dystrophy Association and the Huntington’s Disease
Association as to whether we could improve the survey. So we
Wheelchair Access
Shuttle Service
are looking for your feedback as to how you would like to give us
feedback!
If you are interested in helping us adjust the questionnaire form,
then you can either download it from the website at MDA or you
could contact the office and they will send you a copy of it. NOTE
THAT WE ARE NOT AT THIS STAGE LOOKING FOR ACTUAL ANSWERS
TO THE QUESTIONS BUT RESPONSES AS TO WHETHER YOU THINK
THE QUESTIONNAIRE ASKS THE RIGHT QUESTIONS, IS EASILY
UNDERSTOOD etc.
Once we have established the final version of the questionnaire, we
will send it out specifically to people with HD and myotonic dystrophy.
However, we will also put the final version on the website and you will
be welcome to give us feedback on your experience using the form –
the form includes some open questions such as:
Are there any things that you would like to suggest that could be
SuperCare4u
done differently or better so that we can improve the experience of this
difficult time for people having this kind of diagnosis?
The feedback you provide will give us information about the process
• Professional Drivers • Safe and Courteous
• Airport Transfers • Door-to Door Service
• Wheelchair/Stretcher Access
• Non Emergency Medical Assistance
that you think is relevant.
If you don’t have one of the two specific conditions that we have
nominated, you may feel excluded from this study but you can be
involved in two ways: giving feedback now about the questionnaire
and later, once the final questionnaire is up and running, sending us
TELEPHONE
BOOK A RIDE
your results and thoughts.
(09)
I also encourage you to share these stories with other people at
MDA – maybe this is a topic that we could cover in a further issue of
OR ONLINE
630 2060
BOOK A RIDE
www.SuperCare4u.com
supercare_poster_show_841x594.in1 1
8/17/09 12:05:56 PM
In Touch?
IN Touch // SPRING 2011// PAGE 33 CONDITIONS COVERED BY MDA
MUSCULAR DYSTROPHIES:
DISEASES OF THE MOTOR NEURONS:
OTHER MYOPATHIES:
•
Duchenne Muscular Dystrophy
•
Spinal Muscular Atrophy
•
Myotonia Congenita (Two
•
Becker Muscular Dystrophy
including Type 1Infantile
forms: Thomsen’s and Becker’s
•
Manifesting carrier of Muscular
Progressive Spinal Muscular
Disease)
Dystrophy
Atrophy (also known as
•
Paramyotonia Congenita
•
Emery-Dreifuss Muscular
Werdnig Hoffman)
•
Central Core Disease
Dystrophy
•
Type 2 Intermediate Spinal
•
Nemaline Myopathy
•
Limb-Girdle Muscular Dystrophy
Muscular Atrophy
•
Myotubular Myopathy
•
Facioscapulohumeral Muscular
•
Type 3 Juvenile Spinal Muscular
•
Inclusion body Myopathy
Dystrophy
Atrophy (also known as
•
Periodic Paralysis
•
Myotonic Dystrophy
Kugelberg Welander)
•
•
Oculopharyngeal Muscular
•
Type 4 Adult Spinal Muscular
Dystrophy
Atrophy
INHERITED ATAXIAS
•
Distal Muscular Dystrophy
•
Spinal Bulbar Muscular Atrophy
•
Friedreich Ataxia (FA)
•
Congenital Muscular Dystrophy
(also known as Kennedy’s
•
Spinocerebellar Ataxias (SCA)
Disease and X-Linked SBMA)
Andersen-Tawil Syndrome
HEREDITARY SPASTIC PARAPLEGIAS
METABOLIC DISEASES OF MUSCLE:
•
Phosphorylase Deficiency
DISEASES OF PERIPHERAL NERVE:
(HSP) (also called Familial Spastic
(also known as McArdle’s
•
Charcot-Marie-Tooth Disease
Paraparesis)
Disease)
(CMT) (also known as
•
Acid Maltase Deficiency
Hereditary Motor and Sensory
LEUCODYSTROPHIES
(also known as Pompe’s
Neuropathy
•
Adrenoleucodystrophy
Disease)
•
Dejerine-Sottas Disease (also
•
Adrenomyeloneuropathy
•
Phosphofructokinase Deficiency
known as CMT Type 3)
•
Metachromatic Leucodystrophy
(also known as Tarui’s Disease)
•
Hereditary Sensory Neuropathy
•
Debrancher Enzyme Deficiency
(also known as Cori’s or Forbes’
INFLAMMATORY MYOPATHIES:
(conditions affecting the brain and
Disease)
•
Dermatomyositis
the skin)
•
Mitochondrial Myopathy
•
Polymyositis
•
Neurofibromatosis
(including MELAS, MERRF,
•
Inclusion Body Myositis
Types 1 and 2
NARP and MIDD)
•
Schwannomatosis
•
Carnitine Deficiency
DISEASES OF THE NEUROMUSCULAR
•
Tuberous Sclerosis
•
Carnitine Palmityl Transferase
JUNCTION:
•
Von Hippel Lindau syndrome
Deficiency
•
Myasthenia Gravis
•
Phosphoglycerate Kinase
•
Lambert-Eaton Syndrome
Deficiency
•
Congenital Myasthenic
•
Phosphoglycerate Mutase
Syndrome
Deficiency
•
Lactate Dehydrogenase
MYOPATHIES DUE TO ENDOCRINE
Deficiency
ABNORMALITIES:
•
Myoadenylate Deaminase
•
Hyperthyroid Myopathy
Deficiency
•
Hypothyroid Myopathy
PHAKOMATOSES
Should you have a query
regarding a condition
not listed please contact
Miriam on (09) 815 0247,
0800 800 337 or email
[email protected]
YES, I would like to help.
Please accept my donation.
Please charge my credit card:
Visa
Mastercard
Other
Credit Card No:
Name on Credit Card ....................................................................................................................
Expiry Date: /
Signature...............................................................................
Or enclosed is my cheque
Your name .................................................................
Mailing address ........................................................... .........................................................................................................................................................................................
The privacy act 1993 requires us to advise you that your private details are held in our records for our purposes only, but should you wish us not to do
so at any time you may advise us of this.
Or to make an online donation go to www.mda.org.nz
Return to: Muscular Dystrophy Association NZ Inc.
PO Box 16 238 Sandringham, Auckland 1351, New Zealand.
Others ways to donate:
- You can call 0900 426 98 to make an automatic $15 donation via your phonebill
- Donate an amount of your choice securely online at www.mda.org.nz
You can also donate via Payroll Giving
Payroll giving is a really easy way to make regular donations to the MDA while also helping you to reduce your
PAYE tax. For example a donation of $20 earns $6.66 in tax credits that is taken off your PAYE, so MDA receives
$20 and you keep $6.66. All you need to give your employer is our name, the amount you wish to donate and
our bank account number. For more information contact us.
To make a bequest to the MDA
You may be thinking of making a will and may wish to include the MDA as a beneficiary. If so we suggest the
following as an option for inclusion in your will:
“I give and bequest to: Muscular Dystrophy Association of NZ Inc. …………% of my estate, or the sum of
$......... for the general purposes of the Muscular Dystrophy Association, I declare that the receipt of an officer of
Muscular Dystrophy Association shall be a full and sufficient discharge of my trustee”.
THANK YOU FOR YOUR SUPPORT
Charities Commission Registration CC31123
IN Touch // SPRING 2011// PAGE 35 It might be you ....
or a family member, a neighbour or a friend.
It could be a wee baby, or a retiree, and could happen at any
stage in life.
Muscle weakness and wasting conditions can strike anyone of
any age, of any ethnicity.
These disabling conditions are called neuromuscular conditions
with most but not all being genetic in origin.
Muscular Dystrophy Association Patron,
Judy Bailey.
We provide services to people with
neuromuscular conditions - services that help
them lead full lives
You can help by
• Telling family members affected by a
neuromuscular condition about us
• Supporting our fundraising efforts
PO Box 16-238, Sandringham, Auckland Ph 09 815 0247 / 0800 800 337 www.mda.org.nz

Kia Noho Tata // Spring 2011// Volume 72

Transcription

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