KIA NOHO TATA INTOUCH - A WONDERFUL WORLD OF FAMILY SUPPORT - TO G ETH E - MUSCULAR DYSTROPHY ASSOCIATION OF ...
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InTouch
KIA NOHO TATA Inclusive | Inspiring | Informative Winter 20 Issue 106
A wonderful world
of family support
Meet
The Spence Family
The Wright-Jackmans
The Lyford Family
The Mahoney Family
The Ahern Family
Embracing er
life togeth
Contents
PO Box 12063, Penrose,
Auckland 1642, New Zealand. FEATURES
Freephone 0800 800 337
NZ Phone: (09) 815 0247
International prefix (00649)
Editor: MDANZ National Office 10
info@mda.org.nz
0800 800 337
The Spence Family:
Design: The Artset A very tight-knit unit
the.artset@gmail.com
Nothing much is going to hold Stacy,
Contributions: We welcome Vicki and John Spence back.
contributions, comments and
letters to the editor. We thank all
contributors to this edition.
Subscriptions: In Touch is available
free to people with neuromuscular
conditions, their families, health and 12
education professionals and other
interested people.
A world of
Advertising: In Touch welcomes wonderful
advertising enquiries. For a rate card,
please contact the MDANZ office.
support
Printer: Alliance Print Support works both ways in
09 358 5151 Niki Wright-Jackman’s family.
allianceprint.co.nz
The opinions and views expressed in
this magazine are not necessarily those
of the Muscular Dystrophy Association.
All material in this magazine is
14
copyright. You must therefore contact Big sisters: Macy
the editor for permission before
copying or reproducing any of it. and Anita Lyford
Charities Commission Registration: These two sisters are that little
CC31123 bit more protective of their
ISSN 1179-2116
younger brother..
MDANZ would like to thank Nick Lingard
Foundation
the following supporters:
Winter 2020 | Volume 106
REGULAR 7 A family crossword YOUR CONDITION
Specially set for MDANZ IN REVIEW
2 Korero with Trevor members.
From the desk 20 Duchenne muscular
of the Chairperson. dystrophy
FEATURES contd...
Support organisations globally
understand the heartache and
MDANZ NEWS angst parents feel with this
diagnosis.
3 AGM Update 2020
MDANZ held our AGM via
online web-conferencing.
4 When siblings
feel worried
A new book for young children.
8 It’s genetic
5 Living in COVID times The concepts of family and 22 Every moment counts
genetics aren’t the same thing. It has been a rollercoaster ride
Global recommendations
for the Ahern family, but they
that apply to many
neuromuscular disorders.
16 Mother, grandmother are taking every moment as
and support person it comes.
Rae Mahoney is a real inspiration.
24 Save Our Sons:
Conference Report
RESEARCH There was much to learn at
a recent DMD conference
18 Outcome Measures in Australia.
in CMT
Past pharmacotherapy trials
ASK THE PANEL
failed to provide positive results,
possibly due to a poor choice
26 The importance of the
of outcome measures.
6 Duke of Edinburgh NZ Neuromuscular
Award Update Disease Registry
The Dukies are working hard Richard Roxburgh explains.
to achieve their goals.
We would also like to acknowledge our corporate sponsors: Also thanks to Allied Medical, the ARA Lodge
No 348 IC Charitable Trust, the Clyde Graham
Trust, NZ Post Community Post, Auckland Council,
Richdale Charitable Trust and the Independent
Living Service for their continuing support.
From the desk of the Chairperson
Korero with Trevor
In the face of the global pandemic MDANZ
is drawing on the strength of our communities.
Tēnā koutou katoa, support and connections with local services to meet
Our Association, our communities and our whanau their individual needs.
have been hit with unprecedented challenges of late When New Zealand entered Level 4 lockdown on
with the Covid-19 pandemic. The crisis has thrown us all March 25th, 2020, it saw all Kiwis placed into a time of
and placed us in a time of great worry and uncertainty. uncertainty and worry. However, it also placed Kiwis into a
I sincerely hope that you, your loved ones and your slower, quieter and more reflective pace of life.
families are in good health in your bubbles. It saw us connecting with our families and communities
At the Muscular Dystrophy Association of New Zealand, more and finding strength from others in our bubbles. An
we are following government advice and guidelines and ancient Maori proverb resonates with me at this time of
being proactive for our members. reflection and coming together united as one –
We have put strict measures in place to protect “Ehara taku toa i te toa takitahi engari he toa takimano.”
our members, staff and everybody they come into “My strength is not that of an individual but that of the
contact with. People living with neuromuscular and collective.”
related conditions are particularly at risk in the current
Today, more than ever before, the Muscular Dystrophy
Coronavirus crisis.
Association of New Zealand is working hard to reach out
Our communities and whanau are at a higher risk to our community at a time of great worry and concern.
of respiratory distress and some are more susceptible
I am determined to draw on the strength of our
than others to other complications should they become
communities and continue, along with my team, to be
infected. People we speak to are, understandably, worried
there for them over the weeks and months to come,
about their health and their ability to access crucial
when they may need us more than ever before.
medical and carer supports.
Ngā mihi kia koutou katoa,
As a charity that exists to care and provide support
to people across New Zealand with neuromuscular
conditions, we are urgently reaching out to our members
in their homes and communities and doing all we can Trevor Jenkin
to help mitigate the impact of the Coronavirus on their National Executive Chairperson
health and well-being.
We are guiding individuals and whanau through the
information available from all health sources and offering
2 | InTouch magazine Winter 2020
MDANZ
... and other useful updates
for MDANZ members news
AGM Update 2020
In a sign of these pandemic times, MDANZ held our
annual general meeting via online web-conferencing.
We held out National AGM on April 24, Newly elected councillors are: focus on agency and advocacy for
2020 online via web-conferencing for • Anna Davis (Auckland) - new treatments and research. I am
members and staff to join remotely. Councillor at Large. keen to help lift the governance
Members and supporters were in capabilities of MDANZ to achieve this.
• Doris Hanham (Wellington) -
attendance, including former National
Councillor at Large. Doris Hanham:
Council Chairperson, Helen Melrose.
• Scott Boyle (Christchurch) - Hi, my name
Trevor Jenkin presented his
Councillor at Large. is Doris. I
Chairperson’s report and highlighted
have been a
some of MDANZ’s achievements over • Yaz Dolbel-Neville (Bay of
caregiver for a
the 2019 year: Plenty) - Councillor at Large.
boy with muscular
• Promoting access to new dystrophy and have also been part
treatments for SMA and other Biographies of the Northern Branch Committee
neuromuscular conditions has until I moved to the Central Region.
been a strong focus for 2019, and Anna Davis:
I am currently working as a support
we look forward to continued I’m currently
worker for people with intellectual
collaborations in this space. the Deputy
disabilities. I look forward to being
Chief Financial
• The 60th Jubilee in August 2019, a part of a team that strives to help
Officer of
celebrating our 60th anniversary the members in a positive way.
Tower Insurance,
as an Incorporated Society,
a general insurance company. I have Scott Boyle:
included an Education Seminar
a depth of experience in finance Scott, an avid
and the 60th Jubilee event held to
leadership roles for organisations writer who
celebrate the milestone.
such as Teknique, Pāmu New is working
• Despite it being yet another Zealand, Spark New Zealand and on a novel
tough year economically, we still Rocket Lab. I am also a member and web-series,
achieved our fundraising targets. of the Institute of Directors and a became involved in the association’s
Due to the resignations of Jan Daly Chartered Accountant. governance after realising he should
and Brent Walker, and two Councillor- I am also a board member of be doing more for others. 2018 was
at-Large position terms ending, four the YWCA and UBCO bike and also the beginning of his MDANZ voyage,
National Councillor positions were up a member of advisory boards for the joining Council and the Canterbury
for election. Trevor Jenkin confirmed University of Auckland’s business Committee. He considers it a privilege
that the nominations for the position school and the Stuff.co.nz CFO to be the Rangatahi Representative.
of Councillor-at-Large, National summit.
Yasmin Dolbel-Neville: My name is
Council were Anna Davies, I would like to see MDANZ have Yasmin Dolbel-Neville, however most
Doris Hanham, Scott Boyle and Yaz a greater impact in improving the people know me as Yaz. I live in the
Dolbel-Neville. wellbeing for those affected by Eastern Bay of Plenty, and am married
muscular dystrophy, with a greater with two children, Cherisse - 7 and
Continued on page 4 ...
InTouch magazine Winter 2020 | 3
MDANZ
news
Continued from page 3 ... to give back by volunteering, some
people will have met me at events in
When siblings
Glenn, almost 5.
My interests
Auckland and more recently Rotorua.
I am a committee member for the
feel worried
in my spare Northern Branch, and have now joined Parent to Parent, a local not-for-profit,
time include National Council. I am looking forward has produced a beautifully illustrated
cooking, baking, to working with the team. N book for children six years and under
photography,
who have a brother or sister with
speedway, music and colouring in.
a disability.
I joined MDANZ in 2015 when
my son was diagnosed with Welcome News Parent to Parent says on its website
that the book helps “children to learn
congenital myotonic dystrophy.
Just as In Touch was going to press why having a disabled
I was subsequently diagnosed with
Pharmac’s Therapeutic Advisory sibling can make them
adult-onset myotonic dystrophy a
Committee (PTAC) recommended feel worried, how to
few months later, however it does
Spinraza be funded with high priority recognise anxiety in
not affect my day-to-day life.
for children with SMA types 1,2,3a. N themselves, and how
I am passionate about MDANZ, to face and overcome
when I first joined they were there for their worries”.
us which we truly appreciate. I wanted
See parent2parent.org.nz N
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MDANZ
news
Living in COVID times
Global recommendations that apply to many neuromuscular disorders.
COVID-19 is a rapidly evolving field. European Reference Network EURO- Some of these can affect
The advice here is an extract from NMD and others) have produced neuromuscular function significantly:
that published by the World Muscle guidance on the impact of COVID-19 for example, chloroquine and
Society and is subject to regular on neurological disorders and their azithromycin are unsafe in myasthenia
revision. Please ensure that you are management. These documents gravis, except when ventilatory
using the most up-to-date version of define the risk of a severe course of support is available. Cardiotoxicity and
the document, which can be found COVID-19 as high or moderately high QT-prolongation though chloroquine
here https://www.worldmusclesociety. in all but the mildest forms of NMD. and hydroxychloroquine can
org/news/view/150. The category of Features conferring a high, or very potentially worsen cardiomyopathy.
neuromuscular disease (NMD) covers a high, risk of severe disease include, Other treatments may have effects
wide range of different diagnoses with for example: on specific neuromuscular diseases (in
widely varying levels of disability even • Muscular weakness of the chest or particular, metabolic, mitochondrial,
in people with the same diagnosis. diaphragm, resulting in respiratory myotonic and neuromuscular junction
It is difficult, therefore to make volumes less than 60 percent disorders), and anatomical peculiarities
specific recommendations that predicted (FVC
MDANZ
news
Duke of Edinburgh Award Update
Our Bronze and Silver Dukies are working hard to
achieve their many, and varied, goals.
As we sit in lockdown Marty has
been busy creating Zoom Catch
Up sessions for our Dukies to
connect with each other and catch
up with him around their award
developments and progress. Covid-19
in New Zealand has meant things
have slowed down for our Dukies but
we hope that things will change once
we are able to move back to normal.
Here are the updates so far.
Alisha Mill in Christchurch has
completed 2.5 hours of the 13
dedicated to her skill activity. She has Alisha Mill has been training a companion dog while Dylan Schneider has chosen model rocketry
been training a companion dog to to be his skill activity.
walk alongside a wheelchair. Alisha
has eight out of 26 hours dedicated solo for Wish You Were Here by Pink Our silver Dukies, Dylan Schneider
to her physical recreation activity Floyd. Ryan has also accomplished (Auckland) and Jack Lovett-Hurst
– Boccia. She is part of the Parafed seven out of 13 hours dedicated to (Invercargill) have also been busy
Canterbury Boccia Club League and his service activity, which is offering achieving in their chosen fields of
has enjoyed gaining new skills and his photography skills for the Eastern activity.
participating in games. Southland Basketball Association Dylan has chosen model rocketry
Camille Peterson in Auckland (ESBA). Some of his photos have been to be his skill activity. His goal is to get
has completed six out of 26 hours featured on the ESBA Facebook Page. his NZRA Level 1 & 2 qualifications
dedicated to her service activity. She Joy Gutschlag in Nelson is our and 11 out of 26 hours have been
has been helping run the Sexuality bronze superstar. She has now accomplished. Dylan has been
& Gender Awareness Group (SAGA) finished her physical recreation and attending the monthly launch days.
discussions, surveys and videos. service activities. Joy completed all He prepared and flew his second
For her physical recreation activity, 13 hours dedicated to swimming and rocket on a B6-4 motor.
Camille has achieved six hours of the can now swim six laps of the Riverside Jack has chosen walking as his
13 dedicated to swimming. She has pool without stopping. Her services as physical reaction activity. By the end
also completed five out of 13 hours a youth leader for Unite Church was of 2020, he wants to walk without the
dedicated to training a mobility dog accomplished by reaching the full 26 use of his chair. He has completed
for her skill activity. hours needed by attending regular 18 hours out of 26 by independently
Ryan O’Rourke in Gore has meetings, offering service at church walking at home and practicing by
completed 24 hours out of the 26 events and facilitating activities. Joy using his frame.
dedicated to his skill activity. He has is now deciding what she will choose Well done Dukies, keep up the
been working on his own guitar for her skill activity. good work. N By Amelia Noyes
6 | InTouch magazine Winter 2020
MDANZ
news
A family
crossword
Set by Māyā, especially
for MDANZ members.
ACROSS
1 “A unit composed not only of children
but of men, women, an occasional
animal, and the common cold” -
Ogden Nash (6)
5 A Maori term for (amongst other things)
a 26 across 1 across (6)
9 See 25
10 A group of witches concealed
by Enrico Venturi? (5)
12 A photographic record often kept
by a 1 across (5) DOWN
13 A head of a 1 across and a record label 2 Common term for a 17 across weapon (1-4)
launched in 2004 by Mary J. Blige (9)
3 “Pulling your leg” and “spilling the beans” are examples of this (5)
14 Members of your 5 across
4 Veil made by rearranging hay mask? (7)
(mainly the US version) (7)
5 Peters nets a large weight, perhaps? (7)
17 Considered the traditional type
of 1 across in some cultures (7) 6 Boreogadus saida, a fish found in polar regions (6,3)
19 Soap opera about the Carrington 7 Intentional (more commonly used in its opposite form) (9)
1 across (7) 8 A unit of distance historically equal to 3 barleycorns (4)
21 A wrinkly buffer, perhaps? (7) 11 Peddled, cleared throat, or hunted with birds (6)
22 Valued possessions of a 1 across (9) 15 A verb form describing participles and gerunds (3-6)
23 A famous 1 across (but it’ll never 16 Fall into disuse (9)
be Lorde’s!) (5)
18 Once in a Blue Moon? (6)
25/1/9 A novel published in 1812 that
20 People from the Upper Peninsula (the “U.P.”) of Michigan (7)
has inspired several films and the TV
show “Lost in Space” (5,6,8) 21 An ethnolinguistic region around the Caucasus Mountains,
part of the Russian Empire 1774-1922 (7)
26 A “broad” term for a type of 1 across? (8)
22 #AConfusedMess? (4)
27 Regalia - the UK 23 across 1 across’s
are “the only working set” in Europe (6) 23 A farm, an American salad dressing, or a type of sliding window (5)
28 Greenfly and blackfly are what? (6) 24 Give up the harvest? (5)
InTouch magazine Winter 2020 | 7
It’s genetic
How can something be genetic if no one
in the family has ever had it before?
Although the concepts of family and genetics are related,
they aren’t the same thing. By Miriam Rodrigues.
“It’s genetic – but no one else in my family has ever been
diagnosed with this,” and “It runs in the family,” are both
phrases that accurately describe genetic conditions.
Although the concepts of ‘family’ and ‘genetics’ are
related (couldn’t help myself!) they aren’t the same thing.
The family is an intimate domestic group of people
related to one another by bonds of blood, sexual mating,
or legal ties. It’s a very resilient social unit that has survived
and adapted over time and describes a unit of people that
may, or may not, be biologically related.
Genetics is a branch of biology concerned with the
study of genes, genetic variation, and heredity and is
entirely about biological relatedness. We inherit our genes
from our biological parents – approximately half from
mum and half from dad, with a couple of exceptions.
The exceptions are the genome of our mitochondria So, what does it mean when someone says they have a
(known as the powerhouse of our cells), we inherit that genetic condition? It means that there’s an alteration in their
purely from our mother, and also the sex chromosomes genetic code that when that particular sequence of DNA is
– males inherit a Y chromosome from their father and an transcribed to RNA and then translated into a protein the
X chromosome from their mother. Females stick with the altered piece of DNA causes a problem to occur.
50/50 rule receiving one X chromosome from their mother • It could cause a necessary protein to be entirely
and one from their father. missing as in Duchenne muscular dystrophy where the
It’s possible to be part of dystrophin protein is not present at all.
a family but have nothing • It may mean that insufficient quantities of the protein
biologically in common are made as in spinal muscular atrophy where there is
with other members not enough survival motor neuron protein.
of the family. And it’s
• It could cause proteins to form in misshapen ways
possible to have inherited
where they have a function that is toxic to other parts
a genetic condition that’s
of a cell or tissue as in spinocerebellar ataxias.
never been seen before in
anyone you’re biologically In some cases, having the alteration on just one copy
related to (family or of the gene is enough to cause the disorder – these
Our DNA conditions are inherited in an autosomal dominant way.
otherwise).
8 | InTouch magazine Winter 2020Feature | It’s genetic
In others, the mistake has to be present on both the
copy of the gene you received from your mother and Autosomal dominant
the one you received from your father. These conditions Affected Unaffected
father mother
are inherited in an autosomal recessive way. If the altered
gene is on the X chromosome this causes particular
problems for males who only have one copy of the X
chromosome such as in Kennedy’s disease and Becker Affected
muscular dystrophy. Unaffected
How can something be genetic if no one in the family
has ever had it before?
Sometimes a person is the first in their family to get it
because the alteration (or mutation) has happened in
them for the first time and is known as a de novo mutation. Affected Unaffected Unaffected Affected
child child child child
This happens in about one third of boys with Duchenne
muscular dystrophy and happens in facioscapulohumeral
muscular dystrophy often as well.
The first in the family It’s possible to be part of
Recessive conditions by their very nature mean that often a family but have nothing
a person diagnosed is the first in their family to have been
diagnosed.
biologically in common with
A carrier for a recessive condition usually doesn’t other members of the family.
know that they are a carrier – there’s not usually any
signs or symptoms that tell any of us we’re carriers for
recessive conditions.
It’s only if by chance we meet and have children with
Autosomal recessive
someone who is also a carrier for the same condition that
we then confer a risk that our child might be affected. Carrier Carrier
father mother
What does it mean for other people in the family when
a genetic condition is diagnosed?
It will mean different things for different members of
Affected
the family depending on the condition diagnosed and
Unaffected
how it is inherited.
Genetic counsellors are trained experts to help family
members understand what the diagnosis of a genetic
condition means for individuals in their family.
In New Zealand, genetic counselling can be accessed
both publicly (free but there may be a waiting list) or
privately (you will have to pay. Your insurance may, 25% chance 50% chance 25% chance
unaffected carrier affected
or may not, cover the cost.)
MDANZ can refer you to genetic health services. When two carrier parents have a child, there are three
possible outcomes. With each pregnancy, there is a
25% chance that the child will be affected.
InTouch magazine Winter 2020 | 9Stacy Spence gets into the outdoors regularly.
The Spence Family:
A very tight-knit unit
It is a team effort
Nothing much is going to hold Stacy, Vicki and John Spence back. Whether it is writing a book,
building a model train set or getting out into the bush, the family embraces life to the full.
John and Vicki Spence and Nelson for the past five years, after being in Whanganui for
their 42-year-old son Stacy many years, where John worked for the Department
are a very tight-knit unit of Conservation.
with Vicki and John being And the Nelson climate and environment has proved
Stacy’s main caregivers good for Stacy who, when not in the lockdown brought
since he was diagnosed on by the current pandemic, likes to get out in his
with Duchenne muscular wheelchair on the accessible bush and cycle tracks around
dystrophy 35 years ago. Nelson, or on other day excursions and to his favourite
And the warm, easy and cafes. He also enjoys meeting up for the local MDANZ
fun relationship the three coffee mornings.
Stacy and John’s model railway layout share is easily discernible And, says Vicki, the current lockdown is not that different
is in the early stages of construction down the phone line from for them – they have a routine they stick to and because
with tracks laid and tested, and their home in Nelson. Stacy has a ventilator they are always careful in winter
landscaping to begin.
The Spences have lived in around any colds and flu.
10 | InTouch magazine Winter 2020Feature | It’s all about family
Outside of lockdown they have good friends nearby
who have accessible access for Stacy, along with Stacy’s
older brother and younger sister. While they don’t isolate
themselves, “we are always careful about where we go and
when we go” to ensure they keep any possible bugs at bay.
The three see the lockdown as a bit like the worst part of
winter and they are proud of the fact they have gone for
many years without Stacy catching an infection.
As the main caregivers for Stacy, Vicki says it is easier
now that John has retired (they are both in their 60s) but
essentially, in winter, they find the fewer people coming
into the house means less chance of bringing in any bugs.
Asked if he is happy with his parents as his main
caregivers, Stacy says he is and that they all work together
as a team.
John says Stacy keeps them on the ball. If something Vicki, Stacy and John Spence.
isn’t being done, or part of the daily routine is missed,
Stacy is quick to point it out.
“We are not sure who the caregiver is, really,” says John,
noting that Stacy has always been in charge. Stacy takes everything in his
Stacy, who has a power wheelchair, is very adept on his stride and sees other people
computer and can work it with one finger through the
infrared on his wheelchair. Vicki says everything is set up so as worse off than he is.
that his hand is placed on the wheelchair control which he
uses like a joystick to control the curser on the computer.
There are separate buttons for mouse control.
As to advice to other parents, Vicki and John say if it
At night it means while in bed he can also control the is possible, do the care yourself. John says what makes
television in his room by touchpad. it easier is having a routine. You have things you do and
The family explains that Stacy only has the use of one each step leads into the next step. Everyone knows what
finger “and luckily he keeps using it”. they need to do.
Stacy says he was seven years old when he was The family says the tracheotomy was the best thing they
diagnosed with DMD and that he has now had a had ever done and that it made a huge difference.
tracheotomy and ventilator for 21 years. Added to this is Stacy’s hugely positive attitude – Vicki
About 12 years ago when Stacy was 30, Vicki and Stacy says he takes everything in his stride “and sees other people
wrote a book called Our Journey with Duchenne Muscular as worse off than he is. He keeps
Dystrophy which had quite a lot of interest at the time that up and is never negative”.
and there are very vague hints of another book with Vicki
noting they should have waited another 10 years for when
Stacy hit 40.
Another big project sees Stacy and John in the early
stages of building a model railway. While Stacy says it does
not have a huge layout, as far as model railways go, there
is quite a bit of work in it. They have built it from scratch The book published
when Stacy was 30.
with a baseboard and are buying the trains.
InTouch magazine Winter 2020 | 11A world of wonderful support
Support works both ways in Niki Wright-Jackman’s family
It is vital to ensure there is a balance between paid support workers and family support
carers because the two have a very different dynamic, says Niki Wright-Jackman.
Forty-seven-year-old Niki Wright-Jackman, who considers She says Wilson Home was great and prepared her
herself to have high physical needs, lives with her husband for going out into the community when she was 21
Paul, their eight-year-old son Noah and a houseful of pets and into her state house accommodation along with
in Whanganui. her companion dog. Personal care supports were put in
Niki has spinal muscular atrophy (SMA) and has used a place and Niki worked part time for 10 years or so as a
power wheelchair since she was about 12-years-old. Her telephonist in two large companies.
diagnosis of SMA, when she was a toddler, was stressful Niki and Paul met through an online dating agency.
for her family, as initially her parents were told she had the Niki explains they were friends for quite some time,
severest form of the condition. About three years later she talking on the phone for months until they agreed to meet.
was diagnosed with a less severe form.
They became engaged within six months of meeting.
Niki tells In Touch she was around eight years old when Just before they married Paul bought a house in West
she was issued a manual wheelchair, but by the time she Auckland, modified it for Niki and they lived there for nine
was 12 she had progressed to relying on a motorised years, only moving to Whanganui after Noah was born.
wheelchair.
Niki says she had no problem getting pregnant at 39.
All through her schooling she was mainstreamed and The couple had tried earlier but after a miscarriage she
attended Auckland’s Mt Roskill Primary and Intermediate says that they felt, perhaps subconsciously, it was not for
schools until she was sent to Takapuna Grammar, across them. “So we got lots of pets instead.”
the road from The Wilson Home. At around the same time
But they decided to have another go, before they both
she moved into the home and spent eight years there,
turned 40, and “the next month it was a done deal”, she says.
heading home at weekends and school holidays.
She tells In Touch that both Paul and Noah are a
fantastic support to her as well as her senior father who
lives just a few houses down the road.
Noah doesn’t have SMA and Niki says he is very physical
boy. As to how he copes with his mum’s SMA Niki says
helping her is automatic for him “although when Noah
was two or three years old, he would get very frustrated
with me because I couldn’t do a lot of things with him.
Now he is older we can do more things together like
going out for lunch and shopping, or simply doing
homework together”.
“Noah may see me trying to do something and just
comes and helps me. He intuitively knows and he has a lot
of empathy, which is everything I could wish for in a child.”
Niki and her son, Noah.
12 | InTouch magazine Winter 2020Feature | It’s all about family
L to R: Niki and her husband, Paul. Niki and her son, Noah.
Niki also has paid support workers who come in several
times a day, but it is Paul that puts her to bed every night
and does all the meals. She says as she has got weaker, the One day a weekend
cooking has become too dangerous for her to manage as Niki chooses not to have
her reactions are too slow.
One day a weekend Niki chooses not to have a support a support worker so that
worker so that there is some family privacy and time there is some family
without others in the home.
Although Paul is Niki’s main support, in terms of physical
privacy and time without
needs, he is also the active parent to Noah so he has a lot others in the home.
going on including voluntary work and other work in the
community.
The move to Whanganui came after Noah was born and
their priorities changed. “For me personally I need my paid workers so I remain
as independent as possible, for my own wellbeing. I also
“We wanted a more naturalised upbringing for Noah
take into consideration the wellbeing of my husband
without the financial pressures living in a small place in a
and try to support him so he remains well, not only for
massive city can bring.”
Noah and myself, but also for himself.
Niki says they love Whanganui and have a home with a
“Whilst I rely on my family and workers I am extremely
decent back yard for Noah and the pets to enjoy. They also
independently minded. I like to do as much as I can in
live a minute’s walk to the beach and they are active and
the way of hobbies but my priority is being a mother
feel included in their seaside community.
to Noah and wife to Paul.
Paul and Noah enjoy outdoor activities and like Niki
“I am aware it’s important to frequently evaluate how
to come along “but I encourage them to go do it together,
much support I require and do not hesitate to contact my
father and son, without me, but they want to do it as
NASC coordinator should I require more support enabling
a family”.
me to keep a healthy balance within our little family.”
Asked what she would say to other MDANZ members
about her family support, she says it is vital to ensure
there is a balance between paid support workers and
family support carers because the two have a very
different dynamic.
InTouch magazine Winter 2020 | 13Big sisters: Macy and Anita Lyford
Fun and affection abound
Having a sibling with a neuromuscular condition makes these
two sisters that little bit more protective of their younger brother.
their respective businesses to go out of Level 3 lockdown
in mid-May.
Macy says the three siblings get on well, and “share a fair
bit of banter. It is a bit different having someone who is a
little bit different from everyone. It means you take care of
him a bit more”.
She says Quin gets upset when he can’t do something
other kids can – and agrees she is quite protective of him.
She adds later that “it makes you a little bit more wary of
things, of what he does and what he can do”.
But, that said, she notes Quin is very able and doesn’t
need a wheelchair. He is out and about a lot with his sisters
and parents as both girls play a lot of cricket and hockey
and are both in Wairarapa representative teams for cricket.
Macy says everyone in their respective sports teams
knows Quin well and he has almost become something
Anita, Quin and Macy Lyford. of a team mascot.
Quin plays rugby and some cricket.
Macy Lyford, who is nearly 16, and her 13-year-old sister Macy says they have had a bit to do with MDANZ in
Anita, are protective and affectionate older siblings to their Masterton and have been to a couple of events.
nine-year-old brother Quin. “It was quite interesting seeing how different families
Quin, who has Duchenne muscular dystrophy, is still deal with someone in a wheelchair.”
very mobile, Macy tells In Touch from the family home in So, what would she say to other siblings of someone
Carterton, but that doesn’t stop him getting frustrated with a neuromuscular condition?
when he can’t do some of the things other kids can do.
“One thing I would say, is you have to stay positive, no
Macy says Quin was diagnosed with DMD when he was matter what happens. It is about always staying positive
about two-years-old so she and Anita were only about six about everything,” and about sometimes encouraging
and eight years old at time. Quin to try a bit harder.
The three siblings live with their mum, Jane, and dad, As to the strange COVID-19 times we are all living in,
Tony, and together they form a great support crew for Quin. Macy says the lockdown has been quite weird as their
When asked about this Macy says she is babysitting family is all quite social.
Quin as she speaks to In Touch and she does that a bit as
both mum and dad were then back at work preparing for
14 | InTouch magazine Winter 2020Comfort Cough available
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Quin and the family dog Kano.
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Quin is very able and
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She was keen to get back to school when she spoke
to In Touch but adds that it’s “cute seeing Quin and his would like a free trial.
friends on his computer chatting to his classmates – it’s
quite funny when the teacher lets them off 10 minutes
early so they can all chat”.
When Quin is asked if Macy and Anita are good big solutions@breathingandmedical.co.nz
sisters to him, he’s a bit shy but says they are and do www.breathingandmedical.co.nz
quite a lot to help.
Phone: 0800 335 333
He agrees they are nice big sisters.Mother, grandmother
and support person
Rae Mahoney is a real inspiration
Rae Mahoney is supporting her wider family well into her 80s.
Rae Mahoney has a full house. The 86-year-old currently
supports two grandsons who are in their 30s and have
myotonic dystrophy while one of her sons, Ken, who also
has the condition, has recently moved back home with Rae.
Along with Ken, Rae’s grandson Stephen, who is 33,
also lives in the family home, while another grandson
David, who is 31, is in a flat not far down the road if he
needs support.
When In Touch called Rae at her Gisborne home, she had
just had a fall and was hoping to get extra help because of
the injury the fall caused to her back.
As we speak, Ken is cooking dinner and it’s pepper
Rae and her late husband Bill had five children and
steak on the menu.
Rae says four of them inherited her husband’s myotonic
dystrophy, although he didn’t know he had the condition She says David, who lives just around the corner, also has
until later in life. He had served in the armed forces in the limited mobility, and needs her help on a very regular basis.
latter part of World War II. She likes to do as much as possible for her family and
Rae is very stoic and matter of fact on the phone, from the conversations across the phone line, they do
but she has lost two daughters to myotonic dystrophy - help her out as much as possible too.
Raewyn, when she was 48 years old, and Debbie when Her recent accident means she is hoping for extra
she was 46. help for the next several weeks and she says the care
She also very recently lost Raewyn’s son William, 32, she received at the hospital was fantastic.
to whom she was very close. She had been his primary She is very thankful for the help the family’s former
care giver for about 25 years, says Ken. MDANZ fieldworker, Penny Piper, offered her over the years.
Another daughter, Rhonda lives in Australia and her She says she visited regularly and became like a friend.
eldest son Dennis is the only one of the siblings who Rae is an inspiration, but is probably the very last person
does not have the inherited condition. who would describe herself that way.
Rae has help come in to her very busy home, as
both Ken and Stephen find it hard to walk very far. Footnote: When In Touch rang to check the family had viewed
She undertakes most of the shopping and housework. the story, Ken said Rae had had a second fall and had broken
her hip this time and was in hospital. Visiting hours were limited
However Ken helps out with the cooking, although because of the coronavirus pandemic. Best wishes from the team
he does get very tired, she says. at MDANZ, Rae.
16 | InTouch magazine Winter 2020Help us raise
money without
spending a cent.
You have
the power!
Community Power is a new Yes I will!
power company that wants
to make a difference to the
How do I switch?
lives of New Zealanders. 1. For a free, no obligation quote, email
a copy of a recent electricity bill to:
To do so, it shares a portion of its profits with support@communitypower.co.nz
charities such as the Muscular Dystrophy
Association of New Zealand (MDANZ). 2. We will let you know how much your donation
will be and if there are any savings for you.
By switching your power company to
Community Power, you will stay on your current 3. Then just say “Yes” to start donating at
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our electricity supply will not be interrupted,
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won’t have to dip into your own pockets. rebate you will continue to receive this.
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6. If you receive a prompt payment discount you
we’ve ever launched. We don’t need your money,
will continue to receive this.
we just need your power!
I’ve made the switch. Will you make it too? 7. W
e will advise you on each monthly invoice of
the amount you have donated and of your total
donations made since joining us.
8. R
emember, your donations come from our
Trevor Jenkin
profits, not your pocket. Thank you for helping.
National Executive Chairperson
In partnership with COMMUNITY POWER Power of Together
www.communitypower.co.nz/mdResearch and
Research treatment updates
Outcome measures in CMT
Past pharmacotherapy trials failed to provide positive results,
possibly due to a poor choice of outcome measures.
The CMT-TRIAAL Group recently clinical evaluation (p > 0.05), six-
published their results of a study minute walk test (p > 0.05), pain
where they investigated if novel (p > 0.05) and quality of life (p > 0.05)
outcome measures that they had showed no change.
previously validated would change So the current study showed that
over time reflecting the progression people with CMT do experience
of the condition. clinical worsening over 12 months,
Charcot-Marie-Tooth (CMT) is the confirmed by a reduction of activity
most common inherited neuropathy, as detected by StepWatch™ Activity study will help researchers choose
yet has no available pharmacological Monitor. The six-minute walk test appropriate measures when trying
therapy. Past pharmacotherapy trials failed to detect change. The new to assess the effect of a new drug
failed to provide positive results, knowledge contributed by this in CMT. R
possibly due to a poor choice of
outcome measures.
The research group had previously What kind of with the international PREFER
project to do this.
performed a study where they
validated the six-minute walk test treatment would We'll be emailing out information
and StepWatch™ Activity Monitor in
CMT. The aim of the current study
you prefer? about the PREFER project to everyone
with myotonic dystrophy and to
was to determine if these outcome If you have myotonic dystrophy everyone with mitochondrial disorders
measures are sensitive to change over or mitochondrial disease you'll be like MELAS or MERRF.
a 12-month period. hearing from us soon! We want to Please email info@mda.org.nz
In this longitudinal multi-centre give people with neuromuscular or let the MDA fieldworker know your
study, 149 out of 169 initially enrolled disorders a voice in drug email address so that you too can have
patients were re-evaluated after 12 development and have partnered your say. R
months using the six-minute walk
test, StepWatch™ Activity Monitor and
other outcome measures commonly
adopted in CMT disease.
Statistical analysis showed a
worsening of the CMT-Neuropathy
Score (p < 0.05), strength of distal
muscles measured by myometry
(p < 0.05) and StepWatch™ Activity
Monitor outputs (p < 0.05).
Other measures including the
10-metre walking test (p > 0.05),
muscular strength as detected by
18 | InTouch magazine Winter 2020Research
Data shows sustained efficacy and
longer-term safety of SMA patients
New data show that continuous treatment with Spinraza for up to six and a half years improved
or stabilised motor function and disease activity in a broad spectrum of patients with SMA.
Additional data from the Spinraza
(nusinersen) clinical development
programme further demonstrates the
sustained efficacy and longer-term
safety of Spinraza in a broad range of
patients with spinal muscular atrophy
(SMA), according to Biogen.
“As the first approved treatment
for SMA, Spinraza offers a significant
data set that allows us to uniquely
assess the safety and durability
of repeated doses over time in
individuals across age groups and
varying disease severity,” says a
spokesman from Biogen.
“New data show that continuous function improvement or disease • A separate analysis evaluated a
treatment with Spinraza for up to stabilisation in toddlers, children cohort of seven young adults
six and a half years improved or and young adults who were treated (Type 2 or 3) who began treatment
stabilised motor function and disease continuously, some for up to six and with Spinraza as teenagers (aged
activity in a broad spectrum of a half years. 13 to nearly 16 years old) and
patients with SMA. It says these new data were have since been treated for up
“These results are in stark contrast selected for presentation at the 72nd to six and a half years (range of
to the expected natural history of American Academy of Neurology 5.3 to 6.8 years). Most of these
the disease. Further, in a progressive (AAN) annual meeting and will be patients demonstrated generally
disease like SMA, stabilisation is an available online via the 2020 AAN stable or improved motor function
important measure of treatment Science Highlights virtual platform. throughout the follow-up period
success, allowing patients to retain Among the key highlights were: as assessed by the Hammersmith
motor function that may otherwise Functional Motor Scale Expanded
• Patients with infantile-onset
be lost.” (HFMSE), Revised Upper Limb
SMA included in the ENDEAR-
The SHINE open-label extension Module and Upper Limb Module
SHINE study (n=105) and who
study has enrolled 292 patients (RULM/ULM) and Six-Minute Walk
had earlier initiation of Spinraza
(infants through teenagers) from five Test (6MWT).
treatment experienced the
previous Spinraza clinical studies. greatest benefit, and those with • The durability of Spinraza was also
The company says new findings later initiation showed evidence demonstrated in individuals with
from the SHINE study show treatment of motor function stabilisation or later-onset SMA (n=126), as HFMSE
with Spinraza resulted in motor improvement. and RULM scores were stable. R
InTouch magazine Winter 2020 | 19Your condition
in review
Duchenne muscular dystrophy
Support organisations around the world understand the heartache and angst that parents
feel with this diagnosis, and the support that is needed thereafter. By Miriam Rodrigues.
Duchenne muscular dystrophy us that you, or your child, receive
(DMD or Duchenne) is a difficult, the very best in care, support and
complex diagnosis to understand resources.
We recommend
and manage. This is not a world that For this reason, we recommend accessing the 2018
anyone enters willingly. accessing the 2018 Duchenne Family
Duchenne Family
Support organisations around the Guide. The guide summarises the
world including Action Duchenne, results of the updates for the medical Guide. The guide
The US-based Muscular Dystrophy care of Duchenne muscular dystrophy.
summarises the
Association, Parent Project Muscular Both the original effort, as well
Dystrophy (PPMD), Treat-NMD, World as the updated guidelines, were results of the updates
Duchenne Organization (UPPMD)
as well as Muscular Dystrophy
produced in collaboration with for the medical
patient advocacy groups and the
New Zealand and many others all TREAT-NMD network. The original care of DMD.
understand the heartache and angst documents are published in the
that parents feel with this diagnosis, journal Lancet Neurology and are
and the support that is needed freely available online, as is the
thereafter. known as “dystrophinopathies.”
current Family Guide.
Dystrophinopathies result from
As you journey through this Duchenne is one of a
the absence of the muscle protein
diagnosis, it is important to all of spectrum of muscle diseases
“dystrophin” and range from the more
severe symptoms that you see in
X-Linked Recessive Duchenne muscular dystrophy to the
Parents milder, yet more variable, condition
Becker muscular dystrophy.
mutation Dystrophin protein is needed for
Y Y
healthy muscle cell function. A fault
X X X X X X
in the genetic code for this protein (in
Father Affected Mother Unaffected Father Unaffected Mother Carrier the dystrophin gene) means that there
is little or no protein manufactured and
Children the muscle cells are easily damaged.
This damage builds up over time
and leads to the progressive (getting
Y Y Y Y
worse with time) muscle weakness
X X X X X X X X X X X X
experienced in DMD.
Son Daughter Son Daughter Son Daughter Son Daughter
Unaffected Carrier Unaffected Carrier Affected Carrier Unaffected Unaffected The dystrophin gene is present on
the X chromosome. Females have
Mode of inheritance.
20 | InTouch magazine Winter 2020Your condition
in review
two copies of the X chromosome further testing to explain perceived
and so are rarely severely affected by developmental delays.
dystrophinopathies.
Parents are often
Psychosocial and emotional support
Males have only one X chromosome the first to notice is extremely important when a new
and so a mistake in the dystrophin differences in their diagnosis of Duchenne is confirmed.
gene in a male will have consequences Receiving a diagnosis of Duchenne
as there isn’t a second copy of the child’s development, is tremendously difficult. There are
gene to provide back up.
the first to ask so many unanswered questions,
In about one third of boys with and families often feel alone and
Duchenne muscular dystrophy the questions. overwhelmed, with few places to turn.
mistake in their dystrophin gene has Primary care providers,
happened for the first time in them. neuromuscular specialists, Muscular
In the remaining two thirds of boys Duchenne remain undiagnosed Dystrophy New Zealand, and the
with DMD their mothers are carriers during the pre-symptomatic stage online Duchenne community can
of the altered dystrophin gene. (when children show few, if any, be especially helpful during this
Although carriers are not usually symptoms) unless there is a family time, facilitating connections to
severely affected there are some history of the condition, or unless appropriate care that can help to
physiological effects sometimes blood tests are done for other reasons. provide the resources, information
caused by being a carrier. These Symptoms such as delayed walking and support parents need to help
effects include increased risk of heart and crawling or speech are present, themselves and their families. R
problems and so it’s important that but are typically subtle and are often Muscular Dystrophy New Zealand has
carrier women are identified as such unrecognised at this stage. many resources available to families
and provided with appropriate Parents are often the first to with Duchenne muscular dystrophy.
cardiac monitoring. notice differences in their child’s Kiwi Kids with DMD is a Facebook group
A diagnosis of DMD and the development, the first to ask for parents of children with Duchenne
identification of mum as a carrier can questions and the ones requesting muscular dystrophy.
also have implications for other family
members. It’s very important that
genetic counselling is provided as Gower’s manoeuver
soon as possible. Gets into prone position Forms a triangle
Duchenne is a condition that changes
very slowly over time. The Family
Guide to DMD separates key stages
of Duchenne to help you anticipate
recommendations for care. Although
a b c d
these stages can be somewhat blurred
in distinction, you may find it useful Climbs on own thighs to stand up
to use the stages to identify the kind
of care and interventions that are
recommended at any particular time
and what you should expect of your
care team at that time.
Currently, in the absence of new-
born screening, most children with e f g h
InTouch magazine Winter 2020 | 21Your condition
in review
Every moment counts
It has been a rollercoaster ride for the Ahern family,
but they are taking every moment as it comes.
For Harper Ahern and his parents, on since eight-year-old Harper was The Aherns moved to Waikanae
Trish and Dion, life really is being lived diagnosed with Duchenne muscular Beach, on the Kapiti Coast, from
in a way that every moment counts. dystrophy four years ago. Gisborne after Harper was diagnosed
Dion has an excellent blog, called As Dion writes in the introduction as they wanted to be closer to their
Every Moment Counts With DMD to his blog: “Our son Harper was wider whanau.
(https://everymomentcountswithdmd. diagnosed with Duchenne muscular They also wanted to move while
wordpress.com) where he documents dystrophy (DMD) in late 2016, which Harper was active “so he could build
the journey the family has been shook our worlds to the core. …Our up a group of friends who knew
him being him, rather than coming
down to Kapiti when he was in a
powerchair full time”.
“He was really brave “We thought it would be cool if he
and strong through had a network of friends and that as
he changes, maybe they would go
lots of days of being through the changes with him.”
poked and prodded. And he is making good mates
in Kapiti, says Dion.
He showed real
While Harper is mobile, he tires
inner strength and easily and has a powerchair at school
which he uses at lunch time.
made us so proud.”
“One of the hardest things for him,
is that kids are on the move all the
time. They will start one activity and
toa (warrior) Harper is still currently race off to the next and Harper would
mobile, so our family have a small tire himself out trying to keep up.
window of opportunity to continue “He can now scoot up on the
with our active lifestyles, dreams and powerchair, play with them in
adventures… That’s why for us… whatever they are doing and when
Every Moment Counts.” they move to the next thing, he can
Another of Dion’s beautiful posts is go too.”
to their daughter Mia, who is 10, very Harper is also a keen cook – very,
keen on sport and a representative very hot Indian curries are his
grade gymnast. Dion tells his specialty and if they go to an Indian
daughter how amazing she is and restaurant he is annoyed if they don’t
Top: Harper Ahern loves to be out on his how her parents know it isn’t easy serve him proper “Indian hot” food.
boogie board. Bottom: The Ahern family at
with a brother who has MD.
the beach - Dion, Harper, Trish and Mia. He’s also keen on body boarding
22 | InTouch magazine Winter 2020(Dion and Trish are both long time Dion says it took them to a dark
surfers), scootering, bike riding and place for a long time but they pulled
computer games. themselves out and he says it has
Dion says that one of the biggest made them a lot closer as a couple,
things for the couple has been which they are thankful for.
understanding Harper’s energy levels After Harper was diagnosed Dion
and then managing his fatigue. “He and Trish had good advice from
will just keep going and going if you their MDANZ fieldworker on dealing
let him, so we need to keep track and with grief.
manage his fatigue levels.” He says the advice was around
He says that before Harper allowing each other to grieve in their
was diagnosed the couple knew different ways and that it’s okay if you
something was up. Harper had been are feeling sh*t.
undergoing medical tests as there “And that you don’t have to be a
was some thought he may have been rock, which I felt I had to, and that
on the autism spectrum because of was good advice for me.”
behavioural issues. He says too the couple felt that for
“He had been falling over a bit and Harper the goalposts had changed,
wasn’t as mobile as other kids his age “but he is still a young kid who has
and wasn’t able to jump, and ran on goals and dreams and we are now
his tip toes, with large calf muscles. focusing on helping him with his
We thought he was just developing goals and dreams”.
at his own pace. We didn’t know The advice also included not hiding
about muscular dystrophy and no their feelings from the kids.
one in the family had DMD.” Top: Harper and Dion Ahern, out fishing.
“Mia wasn’t sure but we said it is
Dion says quite out of the blue a Bottom: Harper and Mia Ahern in Sydney.
okay to be sad. We walked them
paediatrician suggested the Creatine through it and said for her to let us
Kinase Test, which is a blood test to know how she was feeling.” that it gave them a lot of hope. The
see if there is muscle damage.
Dion explains he and Trish can’t trial saw them undertake multiple
“The specialist called back a few really look more than six months trips to Sydney.
hours later and said we needed to ahead. “We don’t think beyond that “It taught us there are so many
come down straight away.” timeframe because of the grief and caring professional and specialists at
Dion says the specialist explained sadness about what may lie ahead… work on this.”
that from his initial reading of the test it starts to weigh on your chest, if you While they don’t know whether
it indicated muscular dystrophy. think too far ahead. Harper had the placebo or not, Dion
Dion talks extensively on his blogsite, “The further out we think, the more says it helped his son’s confidence and
https://everymomentcountswithdmd. anxious we become and we try to that Harper was an awesome traveller.
wordpress.com, about the shock and stay in the present. And make sure “He was really brave and strong
disbelief he and Trish felt on hearing that every moment counts.” through lots of days of being poked
the diagnosis. They were delighted when Harper and prodded. He showed real inner
He describes it as a bombshell. was accepted for a clinical trial strength and made us so proud.”
“There was anger and denial and all in Australia and although it was
of the things you go through - it was cancelled at the end of last year, Dion
an emotional rollercoaster.” says it was great of be part of and
InTouch magazine Winter 2020 | 23You can also read
