Issue

MAGAZINE
Autumn Issue 50
August 2023
2

MAGAZINE
MDF support information
MDFSA News
MD Information
Trip to Istanbul as a wheelchair user
My son, JEZREEL GOVENDER
The importance of patient registries in neuromuscular disease
Muscular dystrophy patients get first gene therapy
Genetic therapy corrects progressive muscle disorder in mice
Muscle stem cell technology developed at UMass Chan prelude to new muscular dystrophy
therapeutics
TREATMENT STRATEGY
Aids and Adaptations
A family’s story
How One Family’s Myasthenia Gravis Journey is Helping Others
Travel
At last ... Mata Mata!
REGULAR FEATURES
Travel
Sandra’s thoughts on...
The view from down here
Doctor’s corner
Random gravity check
Published by:
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
E-mail: gmnational@mdsa.org.za
Future Issues:
December 2023
Deadline: 31 October 2023
Website: www.mdsa.org.za
Publishing team:
Managing editor: Gerda Brown
Copy editor: Keith Richmond
Design and layout: Gerda Brown
Cover photo of
The Muscular Dystrophy Foundation of
South Africa
We are a non-profit organization that supports
people affected by muscular dystrophy and neuromuscular
disorders and that endeavours to
improve the quality of life of its members.
2

MDF support information
To learn more about the Muscular Dystrophy Foundation of South Africa, please visit our website at
www.mdsa.org.za.
Subscription and contributions to the magazine
We publish three issues of MDF Magazine a year. If you have any feedback on our publications, please contact the
National Office by e-mail at national@mdsa.org.za or call 011 472-9703.
How can you help?
Contact the National Office or your nearest branch of the Muscular Dystrophy Foundation of South Africa to find
out how you can help with fundraising events for those affected with muscular dystrophy.
NATIONAL OFFICE
E-mail: gmnational@mdsa.org.za
Website: www.mdsa.org.za
Tel: 011 472-9703
Address: 12 Botes Street, Florida Park, 1709
Banking details: Nedbank, current account no. 1958502049, branch code 198765
CAPE BRANCH (Western Cape, Northern Cape & part of Eastern Cape)
E-mail: cape@mdsa.org.za
Tel: 021 592-7306 Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood, 7460
Banking details: Nedbank, current account no. 2011007631, branch code 101109
GAUTENG BRANCH (Gauteng, Free State, Mpumalanga, Limpopo & North West)
E-mail: gauteng@mdsa.org.za
Website: www.mdfgauteng.org Website: www.muscleriders.co.za
Tel: 011 472-9824 Fax: 086 646 9118
Address: 12 Botes Street, Florida Park, 1709
Banking details: Nedbank, current account no. 1958323284, branch code 192841
Pretoria Office
KZN BRANCH (KZN & part of Eastern Cape)
E-mail: kzn@mdsa.org.za
Tel: 031 332-0211
Address: Office 10, 24 Somtseu Road, Durban, 4000
2

SA Needs a Rare Diseases Policy Framework More Than
Legal Actions
As with the temporarily successful Zachary de Wet court case
last year, which forced Medihelp to pay for an expensive
treatment for Hunter syndrome, there has rightly been
celebration of the court action being launched by Cheri Nel
and Section 27 against Vertex Pharmaceuticals Inc, an American
pharmaceutical company that patented an expensive new
drug for cystic fibrosis, Trikafta.
The court action is to challenge the exorbitant cost of the
treatment, priced at around R5,722,400 per patient per year. If
the application is successful a compulsory license would be
granted by the courts, and a generics manufacturer for Trikafta
would be permitted to enter the South African market,
hopefully at a more realistic price for the local economy. 1
Every victory won in South Africa’s fight for access to new generation
treatments for previously untreatable diseases matters
– not only for the litigants, but for everyone living with similar
conditions. That said, it’s nowhere near time to pop the champagne.
A thorny paradox
First, it’s important to note that on 2 December 2022 the
registrar of the Council for Medical Schemes (CMS) ruled that
Elaprase did not constitute PMB level of care for Zachary de
Wet’s condition, and Medihelp retracted authorisation.
Equally, while legal precedent may well be set by the Cheri Nel
case, the problem with precedent is that it has to be applied.
This is immensely difficult with rare diseases – the realm
where many new therapies are now emerging – because there
are so many different conditions, and each one affects only a
tiny segment of the population. 1
It’s a thorny paradox because rare diseases actually
aren’t that rare – as a group. One in 15 South
Africans will likely be affected by a rare disease in
their lifetime. The idea that our country will need
to go through 7,000 different legal processes to
apply the precedents that could be set by cases
like Cheri Nel’s is preposterous. But it’s our current
reality. 1
By Andrew Miller
A similar version of this article was published recently in Daily Maverick 1
The challenge is systemic
While it’s easy to accuse global pharmaceutical companies and
local medical aids of nefarious intent, when it comes to accessing
genetic treatments it’s clear that South Africa’s primary
challenge is systemic, and internal. Simply put, the global medical
complex evolved to serve wealthy Western countries, and
if we want to find a way to offer our people access to new lifesaving
treatments, we need to act in a coordinated fashion to
get in the mix.
To understand the depth of our challenge you have to step
back in time to when the lack of clinical options for rare diseases
meant that most were brushed over when the country’s
Prescribed Minimum Benefit (PMB) legislation was put in
place. Because South Africa was largely thoughtless about the
process at that time, today even those medical aid scheme
members living with rare disease conditions that are on the
PMB list are frequently denied the most basic levels of care.
And in the public health system, the majority of rare diseases
go undiagnosed, let alone treated. 1
Take muscular dystrophy, an umbrella term describing
a set of related muscle wasting conditions.
Muscular Dystrophy is on the PMB list, code 513A.
According to South African law, private and public
health funders must therefore cover the cost of
treating muscular dystrophy conditions.
The problem comes with the next column in the
notorious ‘Annexure A’, describing the required
treatment. For code 513A it says: ‘Initial diagnosis;
initiation of medical management; therapy for acute
complications and exacerbations’. This is interpretative
phrasing, written for a different, largely
hopeless clinical context. Many of our medical aids
choose to ignore the spirit of the PMB legislation
and focus on the vague phrasing to reject claims. At
the Muscular Dystrophy Foundation of South Africa
(MDFSA) we regularly encounter patients who have
medical aid claims for basic care (such as regular
physiotherapy, or mobility aids) rejected. 1
Some of those rejections have been by brands with
reputations for supposedly superior cover.
Thus, despite the clarity of our Constitution, South
Africans who experience certain types of illness,
such as cancer, receive care and treatment across
public and private healthcare systems. But those
who experience other kinds of illness, such as
muscular dystrophy, are often simply ghosted. 1
The only way to remedy this is to redefine the PMB list.
The Department of Health is supposed to review
PMB provisions, as per the explanatory note to Annexure
A, but it fails to do so. No one has much idea
2

when the next review will next take place. When it
does, an organisation like the MDFSA will need to
present a compelling clinical case as to the required
best-practice care, from physiotherapy to genetic
drugs. If the MDFSA doesn’t manage to shove its
foot through the bureaucratic door at this time, it is
questionable whether the PMB codes for muscular
dystrophy will ever be successfully rewritten.
Now imagine the scenario for conditions that aren’t
on the PMB list. And remember, there are over
7,000 of them. 1
The risk is systemic, too
This approach has put the entire national health system –
private and public – into a bit of a straitjacket.
like risk equalisation pools are viable, whether the now
legislated national health insurance (NHI) policy will ever
become enough of a practical reality to finance million-dollar
drugs, what the responsibilities of funders are, and whether
the country can afford to effectively give the middle finger to
the international community by rejecting patent rights, as is
the quest in the Cheri Nel case.
The good news is that a body called the Rare
Diseases Access Initiative (RDAI) has existed for
several years. Led by the NGO, Rare Diseases SA, it
includes pharmaceutical companies, medical aid
schemes, the national health department, and other
role players. Rare Diseases SA has even drafted an
outline of the required policy framework, which is
currently in circulation at this body.
One key factor is that the gargantuan prices charged by
pharmaceutical companies for new-generation genetic treatments
are based not only on the R&D required to develop a
treatment but also on the current cost of care to funders. 1
… In Western countries with strong budgets and
functional health systems, someone living with a
muscle-wasting condition receives extensive
symptomatic care, and there is therefore financial
logic to paying for expensive treatments with the
ability to halt the condition’s progression and reduce
that cost of care.
But in South Africa, the cost to funders of such
patients is often negligible. It’s easy to see why a
local medical aid would baulk at having to shell out
millions per year to treat patients who currently
cost them very little.
If the status quo holds, South Africa could easily be
caught between its constitutional principles and
gritty reality…
In 2022 the New York Times reported on the
situation in Brazil, where a parent about to have a
child with the same condition I have – spinal muscular
atrophy (SMA) – won a court case forcing the
national health system to pay for Zolgensma, provided
by pharma giant Novartis at a list price of
$2.1-million for a single injection. After about 100
similarly successful lawsuits, the Brazilian
government announced it would pay for the drug
for infants with severe forms of SMA, at a reduced
cost of $1-million per dose. But even this
discounted rate now places a possibly unbearable
strain on an already fragile health system. 1
We need a rare diseases policy framework
All of this means that, far more than individual court cases,
South Africa urgently requires a rare diseases policy framework
that defines what a rare disease is, the medical care that
rare diseases require, and how this should be paid for, at private
and public healthcare levels. This policy framework has to
do the extremely heavy lifting of figuring out whether ideas
The bad news, however, is exactly the same. As
much good work as has been done, the RDAI has no
legal force. It has no deadlines. It has no website.
Few people seem to have any sense of when it may
or may not reach a point of getting the required
legislation drafted, let alone to parliament. Rare
Diseases SA cracks the whip as best it can, but it is a
small NGO, with a small whip. 1
Where to from here?
Two things are urgently required. The first is money.
Across the world, rare disease patient advocacy
groups – the people with the raw desperation for
treatment – have forced funders and pharmaceutical
companies and governments to hammer out
agreements. But in South Africa, our poor diagnostic
capacity means rare disease patient groups are very
small. The few NGOs that exist face an ongoing crisis
to secure enough funding just to provide physical
care and support for their members.
Participating in advocacy and legislative
development is a skilled process that requires specific
expertise, and therefore budget. And yet our
NGOs receive almost no general funding from
medical industry role players to facilitate their supposedly
crucial advocacy role.
At best this is thoughtless. At worst it is cynical.
Novartis achieved a $36-billion profit in the 2022
financial year. Discovery Health achieved
R5.5-billion profit in the same period. If patient advocacy
groups are so important to their thriving
businesses and the communities they say they
serve, such companies should be providing at least
some general funding to these groups to allow them
to play their role effectively. But they don’t. 1
The other thing is accountability, starting with the Department
of Health, and including pharmaceutical companies, medical
aids and bodies like the Board of Healthcare Funders.
Vague assurances that everyone is doing their best, via the
2

the RDAI, are undercut by the fact South Africa is making no
clear progress in finalising the required rare disease policy
framework. 1
No pressure is being applied by the public, partially
because very few people are aware of the issue
(until such time they or a loved one is struck by a
rare disease), but also because if you never say
when you will complete a project or what you believe
its outcomes will be, you are unlikely to experience
any meaningful pressure to hit your targets.
Only when the key RDAI role players publicly state
their intentions, desired outcomes and intended
time frames will that precious nugget we call
‘political will’ come anything close to reality.
Until then we will carry on in the same state. Those
who are able will head to court to sue for access to
treatment. Our NGOs will fight the best fight they
can. And the rest will be left to nurse themselves
into their own coffins, at vast personal expense. 1
Reference:
1 Miller, Andrew. SA desperately needs a rare diseases policy
framework more than legal actions. Daily Maverick, 10 July
2023. https://www.dailymaverick.co.za/opinionista/2023-07-
10-sa-desperately-needs-a-rare-diseases-policy-frameworkmore-than-mere-legal-actions/.
The sun rose on 20 May 2023, a seemingly unassuming Saturday morning. What made this day different is that a
group of children, parents and MDF Gauteng staff were making their way to the Rhino & Lion Nature Reserve in
Muldersdrift. The goal was to create awareness and to show people something they don’t often come across.
This group of children are not just any children, they are our “Little Heroes of Hope”. Born from the Muscle Riders,
these children formed a cycle team whereby they could also cycle as the adults do at the 947 Ride Joburg and raise
awareness and donations for those affected with muscular dystrophy.
They made their way out in single file onto the streets of Muldersdrift, all in matching Muscle Riders jerseys. What
resulted was an ocean of people showing their support and cheering them on as they made their way down the
road!
This ride was the first of many and was done as a show of support and an encouragement to others to take part
and join MDFSA in the fight against muscular dystrophy!
2

Glamour for MDFSA and people with
muscular dystrophy
By Sarie Truter
An amazing social media campaign was hosted on 23 April 2023 for five
of our members together with our ambassadors, Ruan Sinden and Liam
van Vuuren.
Adele Wotherspoon (make-up artist) donated her time to ensure that the
five members were beautifully made up. It was an amazing experience for
each one of them. After the makeover a photographer, Tanya from Bodhi
Photography, took fantastic photos of the members and guests, which
included many local pageant winners. The event was covered by our local
newspaper, Roodepoort Record.
The life stories of our members will also shortly be featured in the online
magazine Blue Monkey.
2

MUSCULAR DYSTROPHY FOUNDATION OF SOUTH AFRICA
ANNUAL GENERAL MEETING
Dear Sir/Madam,
Notice is hereby given of the Annual General Meeting of the Muscular Dystrophy Foundation to be held on Saturday, 9 September
2023 (KZN Branch) and Saturday, 16 September 2023 (National Office, Cape Branch & Gauteng Branch) at the following
venues:
• Cape Branch – 3 Wiener Street, Goodwood
• Gauteng Branch / National Office – 12 Botes Street, Florida Park, Roodepoort
KwaZulu-Natal Branch – Office 7, 24 Somtseu Road, Durban
RSVP: Please let the relevant branch know by 14:00, Monday, 11 September 2023 if you are coming, so that we may arrange
refreshments.
• Cape Branch: 021 592-7306
• Gauteng Branch: 011 472-9824
KwaZulu-Natal Branch: 031 332-0211
If you are not able to attend the AGM, please nominate a proxy on the form below. Kindly email the completed form to the
relevant branch.
National Office: gmnational@mdsa.org.za
Cape Branch: capemanager@mdsa.org.za
• Gauteng Branch: mdfgauteng@mdsa.org.za
KwaZulu-Natal Branch: projectskzn@mdsa.org.za
Registration and networking start at 9:30 and the meeting starts at 10:00. Please remain for the AGM of the National Office at
11:00, which will be conducted via MS Teams.
Reviews of the year’s activities will be discussed and the audited financial statements will be available for perusal. A new executive
committee will also be elected. You are cordially invited to nominate new members in the space provided on the proxy
form. Kindly post or email the completed form to the relevant branch.
The previous minutes and the audited financial statements will be available on request from our offices. Should you require
any further information, please contact the relevant branch.
We are looking forward to see you at the AGM!
Kind regards
MDFSA Executive Committee
2

I/We will be attending the Annual General Meeting on Saturday, 16 September 2023.
Name:
________________________________________________
Number of people attending:
________________________________________________
Dietary requirements:
________________________________________________
Nominees for Executive Committee: ________________________________________________
________________________________________________
________________________________________________
If you are unable to attend, please fill in the following section:
PROXY FORM
I, …………………………………………………………………………………………………
ID number …………………………………………………………………………………………………….
being a MEMBER of the FOUNDATION hereby appoint …………………………………………….
………………………………….or…………………………………………………………………………….
or failing him/her, the Chairperson at the said meeting as my proxy to vote for me and on my behalf at the Annual/Special General
Meeting (as the case may be) of the FOUNDATION to be held on 16 September 2023 and at any adjournment thereof as
follows:
To Resolution No.
To Resolution No.
To Resolution No.
Abstain In Favour Against
(Indicate instruction to proxy by way of a cross in the space provided above.)
Unless otherwise instructed, my proxy may vote as he/she thinks fit.
…………………………………………………………………
SIGNATURE
SIGNED this ………………… day of …………………………. 2023.
2

High tea fundraiser
and awareness event
By Sarie Truter
The MDFSA National Office hosted a high tea on Sunday 23
July 2023. Ruan Sinden, MDFSA Ambassador and Mr Africa
2023, was master of ceremonies and, with his energetic
personality and passion for people affected with muscular dystrophy,
ensured that all the guests were revitalised.
Thato Ramantsi, one of our members affected by myasthenia
gravis, was the main speaker for the day. Thato shared her
journey and how she lives a full life with myasthenia despite
the daily challenges.
Liam van Vuuren, MDFSA Ambassador and Sir Africa 2023, was
our motivational speaker at the event. Liam spoke about how
important it is to make mistakes and learn from them.
Cathy Leigh entertained us with her beautiful voice. What a
talented young lady. I believe we are going to hear more about
her as a singer in South Africa.
2

Muscle Riders … Let’s do this!
By Robert Scott
Ten years ago, the MDFSA Gauteng Branch had an idea ... the 947 Ride Joburg.
What started off as a small group of those who wanted to make a difference grew exponentially in the
coming years ‒ the Muscle Riders had arrived.
In 2022 we had our most successful 947 Ride Joburg in our history and created a wealth of awareness
and terrific donations to match!
This year we are once again taking on the 947 event in November with the hope of continuing our
amazing run thus far.
All those who would like to join the Muscle Riders are welcome and should please reach out to Team
Leader, Robert Scott, at mdfgauteng@mdsa.org.za or 011 472-9824.
Your support means hope, and with it we can continue to change the lives of those affected with
muscular dystrophy!
2

Casual Day 2023
By Robert Scott
Casual Day has for many years been a standing fundraiser for MDF Gauteng. It is an opportunity to join many other
organisations in raising awareness around disabilities and to deliver a message to the population in unity.
We wish to thank all of our supporters from previous years and to request that anyone who wishes to join us in selling
Casual Day stickers in 2023 should please contact Robert Scott at mdfgauteng@mdsa.org.za or 011 472 9824.
Open Day at Kibler Park Clinic
By Thuso Mooki
On 2 June 2023 the Kibler Park Clinic, South of Johannesburg, held an open day function, which I
attended together with my fellow MDF social workers Beauty Mathebula and Moipone Molefe.
We had the opportunity to network with other organisations such as SANCA Central Rand, Old Mutual,
South African Police Services and City of Joburg as well as with members of the community. All the
organisations present were given a chance to share information about their organisation. Beauty
represented the MDF very well. The ward councillor thanked us for the awareness of muscular dystrophy
that we provided and took our pamphlet to share with community groups to raise further awareness.
2

An arts and crafts day was held on 31 May 2023 at MDF Cape
Branch. Eight boys from Astra School attended the session.
Astra School transported them to the venue together with a
carer from the school.
The theme was “A day at the beach”. One of the social a
uxiliary workers read the boys a story about a day at the
beach, after which they each received a creative activity set
consisting of a board that had been painted blue beforehand
to reflect the sea, onto which they had to glue some
plastic sea creatures and seaweed, which were included in
the set.
The boys were also treated to refreshments and a goodie bag. They
thoroughly enjoyed the session.
A huge thank you to Blue Bottle Liquors for their continued
support and the amazing donation of R35,000.00 that was
received. We cannot thank you all enough for this and we
deeply appreciate your care and concern for those affected
with Muscular Dystrophy.
2

A Fresh new look!
The MDFSA, Gauteng Branch is fortunate enough to have received a brand-new sign at our offices in
Florida Park. Our old sign had long passed its expiry date and was really starting to look rough!
Our deepest thanks go to Design Crazy for not only designing our new sign but, printing it and erecting it
at our offices all free of charge.
Thank you Design Crazy for giving us a fresh new look!
2

Trip to Istanbul as a wheelchair user
By Mandy Martin
My trip to Istanbul as a wheelchair user was a remarkable
experience filled with both challenges and
wonderful moments. The Turkish people’s accommodating
nature made a significant difference right
from the start. Opting for a manual wheelchair
turned out to be a wise decision, as it provided me
with a sense of control and ease of use.
The airline’s spacious seating arrangement and ample
legroom made my journey comfortable. Upon
landing, I was pleased to find wheelchair-accessible
shuttles and taxis readily available, making transportation
around the city hassle-free.
I stayed at the Oran Hotel, which had a convenient
location near a metro rail, allowing me to explore
the city with relative ease. However, the bathroom
in my room lacked adequate space for wheelchair
access. With the support of my sons, we managed
to find a solution, but I hope more hotels will improve
their accessibility features in the future.
Moving around the city posed some challenges.
The public roads had uneven side paths and bumpy
roads, and many sidewalks lacked ramps, requiring
tilting back to cross streets. Some parts of the city
had cobblestone streets with steep inclines, demanding
significant muscle strength to overcome.
While Istanbul’s tourist attractions were captivating,
most of them featured stairs, making access difficult
for wheelchair users. Nonetheless, I was incredi
bly grateful for the kindness and assistance of the
locals who willingly helped me up and down the
stairs, enabling me to visit these historical sites.
One advantage was that wheelchair users and their
handlers enjoyed free entry to mosques and certain
tourist attractions, which was a nice bonus.
However, I would advise against using an electric
wheelchair for such a trip due to the difficulties
encountered with stairs and inclines.
2

Despite these challenges, I appreciated
the
opportunity to explore the city of Istanbul
and
interact with its people. Istanbul’s charm
lies not only in its tourist attractions but
also in the local culture and everyday
life. While facing obstacles, I persevered
and enjoyed the experience as
much as
possible. The trip left me with memorable
moments and a deeper appreciation
for the city and its people.
Exploring a city with a language barrier can
be challenging, so using translation apps is
an
excellent suggestion to ease communication
and
interactions with locals during your visit to Istanbul.
Venturing into less touristy areas and
mingling with the locals can also provide a
more authentic and enriching experience.
At the end of my trip I had the challenge of
travelling back home solo, and while I received
some
assistance, it wasn’t as comprehensive as I
had hoped. Upon arriving at the disability
check-in, I found that they did not cater for
assisting individuals to go to restaurants or
coffee shops while waiting for their flights and
collecting them afterwards. For those who
can handle their wheelchair independently,
this may not be a significant issue, but as
someone who requires mobility assistance, I
found that it posed some difficulties.
2

My son,
JEZREEL GOVENDER
By Wilna Botha and Iris Govender
Parents of children with muscular dystrophy will know
how your entire life changes the moment you get the
news that your child has the disability. The dreams,
aspirations and plans that you had for your life and your
child’s must by necessity change dramatically. You also
need the courage to walk an unknown and uncertain
path bravely, focusing on the need to care for your child.
This was what happened to Rajen and Iris Govender in
2008, when their precious son, Jezreel, was first
diagnosed with Duchenne muscular dystrophy (DMD), at
the age of 7. This is a life-threatening condition with no
cure yet. At the time, they traded in any ambitions to
advance their careers, travel, develop new interests, join
clubs or societies, or socialise with new friends, in order
to devote their lives to loving and caring for their only
son. And today, it is clear from conversations with them
that they are happy they made that choice.
Iris confesses to having been emotionally vulnerable,
particularly in the early stages. She would hide her
painful emotions and would often cry her heart out into
her pillow at night, so that she could be strong for her
family the next day. And, undoubtedly like so many other
parents of children with muscular dystrophy, she would
repeatedly ask the question “Why?” ‒ Why Jezreel? Why
me?
Iris’s Christian faith carried her through, and in the
mornings she would get up to be strong for her family,
and more so for Jezreel. The entire family went for
counselling at the time to get them to come to terms
with their new reality. After all, they had not heard of
Duchenne muscular dystrophy before.
And now, 15 years later, caring for Jezreel with infinite
love is still the focus of their lives. And Jezreel’s smile,
which is even more beautiful now because it is evidence
of an indomitable spirit in his weakened body, is still a
constant source of joy. Some years ago Jezreel told his
parents, “My body is dead, but my spirit is alive”, and
even though things have become much harder and he
cannot do things he used to do, his spirit is clearly still
alive today.
In 2014, Iris wrote in an article in the MDF Magazine:
“Jezreel is our inspiration who brings us immense joy,
and our faith in God is what keeps us going. To every
mother out there who might be going through
something similar if not worse, remember life is too
short so make the most of it, take it one day at a time,
treasure and be grateful for every passing moment.” And
today her message is still much the same, even though
Jezreel’s situation is much more difficult and her and Rajen’s
roles as parents more challenging.
In 2021, Jezreel was admitted to hospital for 77 days due
to serious aspiration pneumonia. Even though he had
previously said he did not want invasive surgery that
would affect his ability to move, he had to have a
tracheostomy to assist with breathing and a G-Tube to
assist with feeding operations in order to live. As Iris
says: “Jezreel chose life. He had the operations,
recovered well in hospital and is now at home in the care
of his close-knit family and others who love him dearly.”
Today, Rajen’s and Iris’s lives are 100% focused on Jezreel’s
care and on ensuring that they are able to sustain his
life and theirs financially. Rajen gave up his job soon after
2

Jezreel started using a wheelchair as much assistance
was required in transporting him to and from school, etc.
In Iris’s words: “Rajen is a super-hero dad, who cares for
Jezreel’s physical and emotional needs ahead of his own.
He ensures that Jezreel is comfortable at all times.”
The financial strain of the family’s situation has been
huge as Iris is the sole breadwinner. She is very grateful
that her employer, Aon Insurance, have been supportive
throughout and enable her to work from home for three
days of the week, attending two half-days in the office.
Iris and Rajen Govender are very grateful for the support
of the Muscular Dystrophy Foundation KZN Branch and
to the Islamic Medical Association for providing Jezreel
with an ICU bed. They also wish to thank everyone who
has reached out in some way.
Loadshedding has been a major source of concern, since
Jezreel needs 24-hour life support. The family are very
grateful to an individual who donated a generator as an
alternative power source, as this was needed for all of
Jezreel’s much-needed lifesaving equipment
prior to his discharge from hospital.
Fuel is however very expensive, and
recently a friend, also a parent of a child
with a disability, who made a plea on
Facebook and other platforms, motivated
ARTSolar to instal an inverter for the
Govenders on loan. They are highly reliant
on this, knowing that they will have
to rush Jezreel into hospital in a highcare
ambulance immediately if for some
reason it does not work.
Iris explains that, following Jezreel’s tracheostomy, his
speech has not been very audible. “In the beginning it
was a challenge to understand what Jezreel was trying to
say through faint whispers, but eventually we got used
to deciphering it.” On a lighter, more humorous note,
Jezreel’s whispers are likened to a bird chirping, and
when his mum hears these sounds and rushes to his aid,
she is told it was not him. “He can have a good conversation
with us. If we don’t understand him, he gives clues
like the first letters of words, which help us to get the
sense of what he is trying to say.”
Because Jezreel is 24/7 in his bed with no mobility, he
watches TV constantly, viewing a wide range of
programmes. Iris explains that he watches YouTube
items of all sorts, mainly gaming, and loves watching
movies and series in a variety of categories ‒ thriller,
suspense, horror, romance and those of National
Geographic. He also enjoys watching Korean and Japanese
series and listening to music. Bath time with Jezreel
is a time to test your knowledge skills.
Apart from the occasional visits from relatives and
friends, Jezreel prefers lone time. He loves it when his
sister, Alenora, and her husband, Daniel, come to visit
and he adores his niece Azalea. His 10-year-old cousin
Layton, who is part of the family, also spends ample time
with Jezreel.
The constant, loving care that both his parents provide
as caregivers helps to sustain Jezreel physically and emotionally.
Over many years this teamwork between Rajen
and Iris has ensured that Jezreel receives all the love and
care that he needs. The family’s financial burden is huge,
and life is not easy, but thanks to his parents’ sustained
dedication, Jezreel still manages to smile ‒ after all, a
smile is free therapy making life more beautiful.
Iris testifies to what it is that sustains them and gives
them the strength to be there for Jezreel day after day.
2

The importance of patient registries in
neuromuscular disease
By Sam McDonald
Global COL6 Registry Curator, John Walton Muscular Dystrophy Research Centre
How many people are affected by muscular dystrophy?
What problems and symptoms are most challenging for
people? What are the genes and mutations that can
cause muscular dystrophy? What are the best ways to
manage these conditions?
These are important questions, but they are difficult to
answer. Patient registries can be a powerful tool in helping
us provide that answer.
What registries are available?
Here at the John Walton Muscular Dystrophy Research
Centre, UK, we run three international patient registries:
What is a patient registry?
A patient registry is a database where people with a particular
disease or genetic mutation can share information
about their condition, diagnosis, symptoms,
quality of life, etc. This data can then be used to support
research in a range of ways, for example to assess the
effectiveness of a new treatment, or to help understand
the progression of a particular condition.
Why are patient registries important?
There are several reasons why patient registries are so
important in healthcare:
They contain valuable data: Registries can share valuable
insights into the effectiveness of different treatments
and care management approaches. This data can be
used to inform clinical practice guidelines and improve
patient outcomes. All registry data usage is governed by
a steering committee comprising clinical, academic and
scientific experts and patient representatives, with no
input from industry.
www.fkrp-registry.org
www.collagen6.org
They support research: Patient registries can be used to
rapidly identify eligible participants for clinical trials or
research studies with specific inclusion criteria.
They promote collaboration: Patient registries can support
collaboration between healthcare providers, researchers,
and patient advocacy groups. By sharing data
and insights, the community can work together to improve
patient care across the globe.
www.mtmcnmregistry.org
You can also access a comprehensive list of national and
international registries through the TREAT-NMD website:
They empower patients: Patient registries can give patients
a voice in their own care. By sharing their experiences
and outcomes with researchers and other patients,
they can help shape clinical practice and advocate
for better care.
How will I benefit from joining a registry?
Many registries offer an opportunity to access up-todate
information, resources, and support networks specific
to your condition. They can also enable you to stay
informed about clinical trials, new treatment options,
and advancements in research. Some clinical trials may
also use registries to support their recruitment process.
By contributing your own valuable data and experiences, you
are also helping researchers and medical professionals to
better understand your condition and improve patient care,
for yourself and others who share your condition.
2

Muscular dystrophy patients get first gene therapy
By Rob Stein
Shots – Health News from NPR, 22 June 2023
The Food and Drug Administration approved the first
gene therapy to treat the most common form of muscular
dystrophy.
In an eagerly anticipated decision, the Food and Drug
Administration Thursday approved the first gene therapy
for muscular dystrophy.
“Today’s approval addresses an urgent unmet medical
need and is an important advancement in the treatment
of Duchenne muscular dystrophy, a devastating condition
with limited treatment options, that leads to a
progressive deterioration of an individual’s health over
time,” said Dr. Peter Marks, director of the FDA’s Center
for Biologics Evaluation and Research, in a statement.
But the agency rejected a request to make the
treatment available to all children with Duchenne
muscular dystrophy, the most common form of the
Incurable muscle disease, who could still walk. Instead,
the agency restricted access to patients ages four and
five until more evidence is available that the therapy is
safe and effective.
The decision elicited mixed reactions. Parents of children
suffering from the genetic disorder, advocates and some
doctors and researchers welcomed the limited approval.
But some were disappointed the treatment isn’t being
made more widely available right away.
“Today is a very important day,” Debra Miller, who leads
CureDuchenne, an advocacy group, told NPR in an interview.
“But every single day these boys are losing muscle
cells. And so when you have a son with Duchenne and
you see them getting weaker right before your eyes, you
know we have to get therapies to patients sooner rather
than later.”
FDA’s accelerated approval came with limits
Others, however praised the agency’s restraint, though
some argued even the limited approval was premature.
“This is a really critical decision for the FDA to get right,”
Dr. Caleb Alexander of Johns Hopkins University told
NPR in an interview. Alexander voted against approval
during a May meeting of an FDA advisory committee
that narrowly recommended the agency grant approval.
“This has implications not only for those who may
receive this product. But it also sends an important signal
regarding what the FDA will require for future
products to treat this and similarly devastating diseases,”
Alexander said.
The company that developed the treatment, Sarepta
Therapeutics of Cambridge, Mass., said the therapy
would be available as soon as possible. The treatment,
called Elevidys, will cost $3.2 million for each patient,
the company announced shortly after the approval.
Sarepta asked the FDA to approve the gene therapy
under a program that allows the agency to provide
access to treatments before direct evidence is available
that they are effective.
But this accelerated approval process is controversial
because some companies fail to follow through on their
promises to confirm their treatments work. A drug approved
this way to prevent premature birth was recently
withdrawn after being found useless.
2

Sarepta’s muscular dystrophy treatment is the first gene
therapy approved under the program.
The disease, which almost exclusively affects boys,
destroys muscles. Most boys end up in wheelchairs
before they become teenagers. Eventually, their hearts
and lungs give out. Most people with the disease die in
their 30s or 40s.
The gene therapy works by infusing trillions of harmless
viruses in single treatment that has been genetically
modified to ferry a gene to patients’ muscles.
Evidence for the gene therapy is indirect
The gene produces a miniature version of a protein
called dystrophin, that boys with muscular dystrophy are
missing or don’t have enough of. The hope is this “micro
-dystrophin” will at least help slow the progression of
the disease.
But there’s an intense debate about this. Sarepta based
its request on how much micro-dystrophin it produces in
patients’ muscles — without direct evidence that’s
actually helping alleviate symptoms and prevent disease
progression.
During the May advisory meeting, parents and doctors
showed dramatic videos of children who could barely
stand and walk, running, biking and and [sic] easily
climbing stairs after the treatment.
But Alexander and other experts say it remains unclear
the treatment is responsible and is safe.
“This product is not without risks. And I think the
evidence is murky,” Alexander says. “The evidence really
doesn’t meet the bar required to reach market.”
And children who receive the treatment may then be
ineligible to get other treatments in the pipeline that
may be more effective.
“That’s a really non-trivial concern,” Alexander said.
But others said there is sufficient evidence to warrant
broader approval, including preliminary evidence the
treatment is improving boys’ muscles, as well as animal
data and clear evidence the therapy boosts
micro-dystrophin in muscles.
“What’s the old expression: ‘Don’t let perfect get in the
way of good?’” said Jeffrey Chamberlain, who directs the
Muscular Dystrophy Research Center at the University of
Washington.
That said, Chamberlain was glad the FDA at least approved
the treatment for younger children pending
further data.
“You’d like to see approval for as broad a range of
patients as possible. But we’ll take what we can get at
this point,” Chamberlain said.
Michael Kelly, the chief scientific officer for CureDuchenne,
says he hopes this will lead to other, even more
effective gene therapies for the disease.
“This is a critical and really important step in treatment
and this is going to lead the way and blaze a trail for the
next round of better therapeutics,” Kelly told NPR in an
interview.
Article available at: https://www.npr.org/sections/
health-shots/2023/06/22/1183576268/musculardystrophy-patients-get-first-gene-therapy
2

Genetic therapy corrects progressive muscle
disorder in mice
Research by Massachusetts General Hospital
Story from ScienceDaily, 13 April 2023
Investigators recently used a targeted drug to restore
muscle strength and correct myotonia in mice with myotonic
dystrophy.
People with myotonic dystrophy experience progressive
muscle weakness and repeated episodes of painless
muscle stiffness called myotonia.
Investigators at Massachusetts General Hospital (MGH)
recently used a targeted drug to restore muscle strength
and correct myotonia in mice with myotonic dystrophy.
The research, which is published in Nature Communications,
could lead to new treatments for affected patients.
Myotonia in myotonic dystrophy is caused by abnormal
processing (or splicing) of the transcript created from the
gene that codes for the muscle chloride channel Clcn1, a
protein that controls the flow of chloride ions into muscle
cells.
The abnormal splicing leads to a truncated and poorly
functioning Clcn1.
Also, the degree of weakness in patients with myotonic
dystrophy is associated with higher amounts of oxidative,
rather than glycolytic, muscle fibers. These fibers
differ in how they obtain energy for contraction.
To correct the abnormal splicing in mice with myotonic
dystrophy, a team led by Thurman Wheeler, MD, a neuromuscular
researcher at MGH and an associate professor
of Neurology at Harvard Medical School, used a genetic
therapy involving small pieces of DNA called antisense
oligonucleotides (ASOs).
The ASOs were based on a code that targets the abnormal
splicing of Clcn1, and when injected directly into the
animals’ muscles, the ASOs corrected the abnormality,
boosted the abundance of functional Clcn1, increased
the amount of glycolytic muscle fibers, and restored
muscle health.
“Our findings show that muscle fiber type transitions in
myotonic dystrophy result from myotonia and are reversible,”
says Wheeler. “Our results also support Clcn1-
targeting therapies as a way to increase strength and
reduce muscle injury in patients.”
Additional co-authors include Ningyan Hu, Eunjoo Kim,
and Layal Antoury.
This work was supported by the Elaine and Richard Slye
Fund and the Muscular Dystrophy Association.
Article available at: https://www.sciencedaily.com/
releases/2023/04/230413154253.htm
"There is no greater disability in society than the inability to see a person as more."
- Robert M. Hensel
2

Muscle stem cell technology
developed at UMass Chan prelude to
new muscular dystrophy therapeutics
By Jim Fessenden
UMass Chan News, March 17, 2022
Scientists at UMass Chan Medical School have developed
a technology to isolate human skeletal muscle stem cells,
or progenitor cells, from induced pluripotent stem cells
(iPSCs). Christened iMyoblasts in an eLife paper by corresponding
investigator Charles P Emerson Jr., PhD, these
patient-derived muscle stem cells enable researchers to
pursue laboratory investigations into the earliest impacts
of disease-causing mutations on muscle formation and
function.
Patient-derived stem cells, such as iMyoblasts, are a core
foundation for preclinical laboratory models for many
known human muscular dystrophies. iMyoblast technology
has the power to advance gene therapy for human
muscular dystrophies—using strategies including RNA
silencing, DNA editing and stem cell therapy—for clinical
applications.
“This is a critical step for the development of gene editing
treatments,” said Dr. Emerson, professor of neurology.
“Laboratory models of human muscular dystrophy
are required to develop these therapeutics before clinical
use in patients.
iPSCs can be readily produced in tissue culture by reprogramming
of patient’s somatic cells, including skin and
muscle biopsy cells, said Emerson.
“Using molecules known to direct muscle cell maturation
during development, we can create muscle progenitor
cells that can both differentiate into skeletal muscle and
reproduce themselves to regenerate or repair muscle,”
he said. “This becomes an important tool in our toolbox
to investigate and develop therapeutics for muscular
dystrophies.”
There are more than 40 known muscular dystrophies
caused by genetic mutations that affect muscle function.
These disorders have variable ages of onset and clinical
severity, but most often result in severe physical disabilities
and premature death. Over what can be decades,
patients with muscular dystrophy experience progressive
muscle weakness and decreased mobility, making everyday
tasks difficult and often impossible to perform even
during early disease. Overall, there are fewer than
200,000 cases of muscular dystrophy diagnosed each
year in the United States, but this prolonged disease progression
places a significant long-term burden on patients
and their families and the health care system.
The primary benefit of iMyoblasts is their ability to regenerate,
or multiply, to create more progenitor cells in
addition to differentiating into mature muscle cells.
More than 25 years ago, scientists unraveled the biology
behind how embryos make mature muscle. Another leap
forward came about 10 years ago when methods were
developed to produce differentiated muscle from patient
iPCSs. But these earlier technologies were limited in
their ability to make muscle stem cells that can both
differentiate and regenerate muscles. Their utility in the
laboratory and clinic, where organisms need to respond
to injury and age, were hampered by these constraints.
In contrast, skin cells taken from a patient with any form
of muscular dystrophy can be turned into iMyoblast progenitor
cells. When iMyoblasts are then engrafted into
animal models, they give rise to adult human muscle
cells with the muscular-dystrophy-causing mutation.
These disease models are key to developing new therapeutics
with the potential to treat muscular dystrophies.
“Developing models of all these different muscular dystrophy
mutations is difficult,” said Emerson. “Not only
are there more than 40 unique forms of muscular dystrophy
and a multitude of mutations, but obtaining muscle
cells from a patient normally requires an invasive
muscle biopsy. And what you do get from the biopsy are
often damaged stem cells. With the iMyoblasts, all we
need are a few patient skin cells and we can have animal
and cell culture models to study.”
Using iMyoblasts, Emerson and his group were able to
2

develop animal models for four distinct forms of
muscular dystrophy: facioscapulohumeral muscular
dystrophy, limb-girdle muscular dystrophy types R7
and R9, and Walker-Warburg syndrome. These
models successfully replicated the molecular disease
pathologies of the disorders and were responsive
to small molecule and gene editing therapeutics.
The hope is that eventually iMyoblasts can be used
in combination with gene editing and stem cell therapeutics
to alleviate or cure a broad range of muscular
dystrophies.
“The long-term goal is that we can develop gene
editing technology to fix the disease-causing mutations
in the iMyoblasts, which can then be transplanted
back into patients where they go on to
build healthy muscle tissues. And because the
iMyoblasts are self-renewing, the hope is that these
cells will be able to respond to injury in the adult
human environment and continue generating new,
healthy muscle cells over an extended period,” said
Emerson.
Article available at: https://www.umassmed.edu/
news/news-archives/2022/03/muscle-stem-celltechnology-developed-at-umass-chan-prelude-tonew-muscular-dystrophy-therapeutics/
Did you know that MDFSA has a YouTube channel?
We post many interesting & informative videos such as:
• Fact videos about different types of Muscular Dystrophy
• Interviews with members of MDFSA
• Webinars
• Coverage of various MDFSA events
We post regularly and would like to invite you to like and subscribe to our channel and be sure to enable notifications
so that you never miss any new videos!
2

TREATMENT STRATEGY
By Myasthenia Gravis Foundation of America
Myasthenia gravis (pronounced `my˖ĕs˖`thēēn˖ē˖ă
`grăv˖ĭs), also known simply as MG, is a rare neuromuscular
disorder. When the first case of MG was
documented in 1672 by Thomas Willis, an Oxford
physician, not much was known or understood
about it. Today, we know there are multiple causes
for MG as well as treatment options. The most common
form of MG is a chronic autoimmune neuromuscular
disorder that is characterized by fluctuating
weakness of the voluntary muscle groups.
Treatment Goals
While there is no known cure for myasthenia gravis
(MG), there are several effective treatments. Spontaneous
improvement and even remission, although
uncommon, may occur without any specific therapy.
However, as every case of MG is unique, you
and your doctor will decide on a treatment plan for
your specific needs.
In preparation for your doctor’s visit, you can review
and bring a copy of the MG treatment guidelines
with you. The MG treatment guidelines are the
result of a multi-year effort to develop agreement
among an international group of MG experts on the
use of various treatments for people with MG.
These guidelines were developed and updated with
leadership from our Medical Advisory Committee
members and was re-published in the December 4,
2020 issue of Neurology, titled the “International
Consensus Guidance for Management of Myasthenia
Gravis Update 2020.” This paper is a significant
new resource for physicians caring for MG patients.
[…]
With treatment, you may expect to see modest to
significant improvement in your strength, helping
you lead a full life. New treatments continue to give
hope to people with MG, their family and their caregivers.
Information on available treatments is below.
Treatment Options
Thymectomy
Surgical removal of the thymus gland is highly effective
in MG patients
This is the surgical removal of the thymus gland. The
thymus gland is located in the middle of your upper
chest and lies over your heart. This gland plays a
role in the production of antibodies. While it is most
active in early childhood, the thymus gland usually
shrinks over time and by early adulthood is believed
to no longer function. But sometimes, the thymus
gland remains large and continues to be active in
antibody production. Effectiveness of this surgical
procedure varies with each patient. It is removed in
an effort to improve the weakness caused by MG,
and to remove a thymoma, a tumor (usually benign
or in some cases malignant) on the thymus that presents
itself in only 10% of patients. Every person
diagnosed with MG should have a CT scan of the
chest to check for a tumor. The neurological goals of
a thymectomy are significant improvement in the
patient’s weakness, reduction in the medications
being employed, and ideally a permanent remission
(complete elimination of all weakness and off all
medications). A thymectomy is usually not used to
treat active disease but rather it is believed to improve
long-term outcome. Results may not be seen
for one to two years or more after the thymectomy.
Anti-acetylcholinesterase agents
Mestinon® (pyridiostigmine bromide) – allows acetylcholine
to remain at the neuromuscular junction
for a longer period, which in turn allows activation
of more receptor sites, resulting in increased conductivity
and muscle engagement. Mestinon®
comes in two forms, fast-acting 60 mg tablets and
long-lasting slow-release 180 mg capsules known as
Timespan®, which delivers pyridiostigmine bromide
over a 12-hour period.
Neonatal Fc receptor (FcRn) blockers
The U.S. Food and Drug Administration (FDA) has
approved argenx’s VYVGART® (efgartigimod alfafcab)
for the treatment of generalized myasthenia
gravis (gMG) in adult patients who are antiacetylcholine
receptor (AChR) antibody positive.
These patients represent approximately 85% of the
2

total gMG population. VYVGART is a prescription medication
and the first FDA-approved treatment that uses a
fragment of an IgG antibody to treat adults with anti-
AChR antibody positive generalized myasthenia Gravis. It
is given in treatment cycles with a break between each
cycle. A treatment cycle consists of a 1-hour infusion
each week for 4 weeks (4 infusions total). The treatment
is specifically designed to attach to and block the neonatal
Fc receptor (FcRn), resulting in the reduction of IgG
antibodies, including the harmful AChR antibodies that
cause gMG symptoms. Receptors called “FcRn” extend
the life of IgG antibodies. In gMG, this allows harmful
AChR antibodies to continue causing gMG symptoms.
But IgG antibodies, including harmful AChR antibodies,
that cannot attach to an FcRn are removed by the body.
When harmful AChR antibodies that cause gMG symptoms
are removed, they can no longer disrupt nervemuscle
communication. This treatment is offered by argenx
and you can learn more by visiting the following:
https://vyvgart.com/
C5 Protein Inhibitors
AstraZeneca, and its Alexion rare disease group, announced
that the United States Food & Drug Administration
(FDA) has officially approved the Ultomiris®
(ravulizumab-cwvz) treatment for adult patients with
generalized myasthenia gravis (gMG) who are antiacetylcholine
receptor (AChR) antibody-positive, which
represents 80% of people living with the disease. This
FDA action marks the first and only approval for a longacting
C5 complement inhibitor for the treatment of
gMG. According to Alexion, the medication works by
inhibiting the C5 protein in the terminal complement
cascade, a part of the body’s immune system. When activated
in an uncontrolled manner, the complement cascade
over-responds, leading the body to attack its own
healthy cells. Ultomiris is administered intravenously
every eight weeks in adult patients, following a loading
dose. Ultomiris showed early effect and lasting improvement
in activities of daily living and has potential to reduce
treatment burden with dosing every 8 weeks. You
can read more about this treatment at the following
website. https://www.astrazeneca.com/media-centre/
press-releases/2022/ultomiris-approved-in-the-us-foradults-with-generalised-myasthenia-gravis.html
Corticosteroids and immunosuppressant agents
Corticosteroids, such as Prednisone or an immunosuppressant
agent such as Imuran®, Cellcept®, or Cyclosporin®,
may be prescribed by your doctor as a stand-alone
medication or in combination. These medications suppress
your body’s production of antibodies that may be
blocking or binding onto your body’s acetylcholine receptors.
This blocking or binding of the acetylcholine
receptors causes weakness.
Complement Inhibitors including Soliris
Soliris® or its generic name eculizumab, is the newest
classification of infusible drugs to be FDA-approved for
the treatment of gMG in adult patients who are antiacetylcholine
receptor antibody positive. This drug
works to reduce immune system attacks that may contribute
to gMG symptoms. You and your doctor will decide
if this approach is best for you.
Intravenous immune globulins (IVIg)
Your doctor may prescribe IVIG as part of your treatment
regimen. During IVIG, a line is placed into a vein to
receive delivery of immune globulins (IgG). A typical IVIG
infusion may take from 4‒8 hours and is typically in a
hospital setting. This influx of IgG is thought to override
your own antibody production (which may be causing
your weakness) while providing you protection from
possible infections. Results are often temporary, so repeated
treatments are required.
IgG Sub-cue Hizentra
A new, less invasive method of delivering immune globulins
(IgG) is being reviewed for MG use. This method is
known as IgG sub-cue, which means subcutaneous or
“under the skin”. In this method of IgG delivery, a series
of 4‒6 short needles are placed into the subcutaneous
layer of skin across your abdomen. These needles are
connected in a spider web fashion to the pump. A typical
sub-cue infusion may only take from 1‒3 hours and can
be done at home.
Therapeutic Plasma Exchange
Therapeutic Plasma Exchange, or Plasmapheresis – Also
known as Plasma exchange or PLEX. This is a filtration
procedure whereby abnormal antibodies are removed
from blood plasma. This procedure requires two intravenous
(IV) lines or a port placed before undergoing PLEX.
Your doctor may decide you need this treatment to
quickly improve strength prior to surgery. As your body
continually produces antibodies, repeated PLEX treatments
may be required.
Cautionary Drugs
Certain medications may cause worsening of MG symptoms.
Remember to tell your doctors and dentists about your MG
diagnosis and the medications you are currently taking. It is
important to check with your doctor before starting any new
medication, including over the counter medications or preparations.
[…]
Article available at: https://myasthenia.org/Newly-Diagnosed/
Treatment-Strategy
2

Aids and Adaptations
By Muscular Dystrophy News Today
Muscular dystrophy is a neuromuscular condition that
progressively weakens muscles so that patients may require
the help of assistive devices to maintain mobility
and independence. These aids and assistive devices
should be used only in consultation with a trained occupational
therapist or physiotherapist.
Mobility devices
Canes, walkers, wheelchairs, and power scooters are
some examples of mobility devices that may help enhance
mobility and reduce fatigue in patients with muscular
dystrophy. An occupational therapist will be able to
determine the correct type of mobility device that can
benefit each individual patient, depending on the patient’s
needs.
Assistive devices for daily tasks
Some home modifications and simple devices can help
muscular dystrophy patients maintain their independence
and ability to perform daily tasks. Some examples
include:
• Doorknob adapters that provide leverage to open
doors
• Handlebars and lifts in bathrooms or walk-in
showers that can make bathing easier
• Zippers instead of hooks and buttons to help facilitate
dressing
• Customized utensils that enable the patients to
dine on their own
• Pens and pencils with enlarged grips to reduce the
pressure on hand muscles and help with legible
writing
Orthotic devices
Patients with weak muscles and joints can benefit from
body support devices or orthosis. These devices provide
support to muscles and joints, enhance spine and limb
movement, and help to improve quality of life.
As a patient’s muscular dystrophy progresses, the ankle
muscles may become weak and cause walking difficulties.
A simple brace or splint called ankle-foot orthosis
can help patients walk and prevent falls.
Hand and wrist braces can facilitate the movement of
fingers and provide additional support to grasp common
items such as toothbrushes. These braces can also assist
in computer work and thus help patients maintain their
professional independence.
Slings can be used to support the neck and shoulders,
reduce pressure on shoulder muscles, and help in lifting
objects.
Assistive technology
Assistive technology is a developing field of research
which can help patients manage their specific abilities
and needs using new apps and gadgets. For example,
voice recording devices and newly developed apps to
monitor movements and those that aid in multitasking
can help patients in their work lives while improving
their overall quality of life.
Article available at: https://
musculardystrophynews.com/living-with-musculardystrophy/aids-and-adaptations/
2

Never will I forget the sunny day in March, many years
ago, when the paediatrician announced: “Your son has a
serious, malignant, incurable muscle disease.” He looked
at me cautiously, as if waiting for a reaction. A sign that I
understood what he had just said.
But there was nothing. My head was fuzzy.
Why my child? As hard as it was, I kept asking myself the
same question. I quarrelled with God and the world –
especially with God. What had I done to deserve this?
What had my child done? I looked for answers in religion,
read books on coping strategies, and looked for
advice from other parents of ‘special’ children, gradually
learning to give up meaningless and difficult questions.
l sat there numb and had no idea how to start getting
my head around this word. I just couldn’t grasp it.
But two thoughts crossed my mind.
Was this man off his head giving me such a terrifying
diagnosis after watching my son stand up just once? At
the same time the thought came: of course, he’s right,
and I knew it!
Despite all the reassurance from doctors, physiotherapists
and other people, I had always suspected that
something was wrong. If I were not so shocked, I might
have felt a fleeting sense of satisfaction. Finally, I was no
longer the neurotic mother who was always imagining
things.
Why my child?
A dark time followed that fateful March day. For days I
felt like I was in freefall. Not once was I able to remember
the words ‘muscular dystrophy’, because my consciousness
refused to accept this diagnosis. All I could
think about was that my barely five-year-old, innocent,
blonde, curly-haired boy would die of this disease. That
thought ripped my heart out.
I decided that, despite this devastating diagnosis, we
would have a good life.
Naturally, my little boy did not suspect what was going
on, and his older sister went about her life. That was
maybe my salvation: I was forced to carry on as normally
as possible. After a few weeks this hard time ended and I
began to deal with the illness. I spoke to the nursery,
primary school, friends and neighbours. I turned to the
church, and I researched self-help groups. Sometimes I
had to swallow a lot, but the more I talked about the
disease the easier it became for me. I decided that we
would have a good life despite this devastating diagnosis.
The idea of life expectancy faded into the background
and disappeared for many years. I stopped
searching for research and concentrated on life instead.
Important decisions had to be made again and again. Which
school is suitable? How would he get on there? Does he need
a teaching assistant, or could he manage without? How will I
deal with the topic of school trips? Will he be bullied? Should
he take steroids or not? How can I tell him why he is so different
from his friends? How do I find the right words? When will
he need a wheelchair? How can we deal with the situation as
a family? Will I be able to do justice to his sister? Many sleepless
nights came and went, and it was always my son who
2

who gave me courage and strength.
Naturally our life was very different to those of our family,
neighbours and friends, simply because we thought
differently.
Completely and naturally, he accepted his fate
My son went to the only local primary school along with
his friends, unfortunately on a hill. Sending him to the
nearest special school would certainly have made many
things easier, but I didn’t feel he belonged to that world
yet. The children in his class were totally at ease with
him and the school went out of their way to make
school trips manageable. He felt fine, was almost always
in good spirits and carried on like a normal person. The
moments when he was sad or stressed were rare and
never lasted long.
clinic in Weserbergland for the first time.
I was surprised to discover how relaxed and happy the
mood was between the parents and children; even families
with older boys were having fun. I was even more
surprised that we became part of a big family. To this
day, our rehabilitation stays in Hoxter are highlights of
the year.
His illness always gave me the time to grow into it and
keep up
And so the years went by. There were several surgeries
and long hospital stays. The need for financial assistance
steadily increased, there were many battles with health
insurance, and there was always the ongoing worry
about his health, his muscle loss and loss of function,
ventilation and heart medication.
As he got older he started to think about his situation.
He kept his thoughts to himself. Textbooks say you
should only answer the questions your child asks. But he
did not ask questions. He seemed to sort things out on
his own. Without any fuss, he just seemed to accept his
fate. I was worried because for a long time I thought he
needed to know what was the matter with him. But I
found out many years later that he had in fact known for
a long time, but just didn’t talk about it. Still, I felt it was
time to put my son in touch with other children with
Duchenne. So, in the hot summer of the football world
championship in Germany, we drove to a rehabilitation
Just arrived!
Please place your orders with Sarie at
nationalfinance@mdsa.org.za
4 Years - R100.00 each
6 Years - R100.00 each
8 Years - R120.00 each
10 Years - R120.00 each
12 Years - R120.00 each
S to 4 XL - R150.00 each
I watched his playmates progressing while he went backwards,
and that hurt a lot. On the other hand, I learned
to live in the present – a skill I had always wanted. His
illness always gave me the time to grow into it and keep
up. I grew into it and made my peace with Duchenne.
Today my son is a smart, polite and, above all, compassionate
person who always makes me laugh with his dry
humour. He is a gift: my wonderful Duchenne son!
Article available at: https://duchenneandyou.eu/
duchenne-muscular-dystrophy-real-life-stories/
2

For many individuals living with a rare disease, the road
to diagnosis can be extremely challenging, especially
when it involves two co-existing diseases where two
parts of your immune system aren’t working effectively.
Parents of children living with a dual diagnosis of rare
diseases often must advocate strongly for their children
to receive the appropriate medical attention. Stephanie
Madole, mother of two children living with generalized
Myasthenia Gravis and Relapsing Polychondritis, recognizes
the incredible power of raising awareness,
supporting research, and connecting with others in the
rare disease community.
The long road to an initial diagnosis
Elizabeth, 9, and Charlotte, 6, were both diagnosed with
Systemic Autoinflammatory Disease with manifestations
of Relapsing Polychondritis (RP) after presenting with
symptoms of inflammation for years. Stephanie recalls
the fear, confusion, and frustration of unanswered
questions during the journey to determine that the girls
had RP. When Charlotte was 22 months old, she developed
a fever of 104 degrees and had red eyes, severe
joint pain and swelling, and rashes covering her body.
During five trips to the hospital in a two-week time
span, medical staff continually told her parents that she
was experiencing something viral and sent her home.
Stephanie and her husband, Dustin, insisted that something
beyond a virus was occurring and advocated for
increased care and testing. They traveled to multiple
hospitals and met with team after team of medical professionals
who, although could [sic] clearly see that
somethings [sic] was wrong, were unfamiliar with the
combination of symptoms that Charlotte continued to
present. When Elizabeth began to exhibit the same
symptoms at four years old, Stephanie and Dustin knew
that the girls were battling the same disease, but still
didn’t have answers.
Recurring symptoms began to include seizures and
severe airway narrowing, resulting in a multitude of
hospitalizations. After receiving a few false diagnoses,
the Madoles finally met with a rheumatologist who
suspected a systemic autoinflammatory disease.
Relapsing Polychondritis was confirmed after a further
testing at the National Institute of Health (NIH).
After more than two years of searching for a diagnosis,
the girls began receiving treatment for RP. Stephanie, an
experienced advocate for her children’s care by this
time, joined a Facebook group for parents of children
with inflammatory diseases and sought out the best
experts for her daughters’ care. When Elizabeth began
experiencing severe weakness and notable mobility
2

issues at 7 years old, Stephanie embarked on yet another
a challenging diagnostic journey.
human being.”
Sharing their story
Stephanie continued to gain support and a sense of
community from the online inflammatory disease
parents’ group that she had joined years ago. After much
consideration, she and her husband decided to share
their daughters’ story with the group. Amidst hundreds
of comments of support, one mother reached out to
share that her son was experiencing the same symptoms
and asked if she could call Stephanie.
A second diagnosis: Myasthenia Gravis
Elizabeth began to have difficulty squatting down and
getting back up, making it difficult for her to play on the
floor. Stephanie was initially told that these symptoms
would resolve. But when Elizabeth lost the ability to
brush her own hair and chewing became incredibly
challenging, Stephanie became increasingly concerned
about the weakness. Stephanie will never forget the look
on her rheumatologist’s face at Elizabeth’s next clinical
appointment. The rheumatologist immediately admitted
her for weakness and ran multiple tests from an
inflammatory standpoint, all of which came back normal.
After dozens of tests and meeting with a variety of
specialists, the Madoles met with a neurologist specializing
in neuromuscular disease.
Dr. Alexander Fay, a neurologist at the University of
California, San Francisco (UCSF) Hospital MDA Care
Center, recognized Elizabeth’s symptoms. He quickly
ordered a repetitive nerve stimulation study to confirm a
diagnosis of generalized Myasthenia Gravis. After
Elizabeth’s diagnosis, the girls’ rheumatologist reached
out to Dr. Fay regarding Charlotte’s care; she was tested
and diagnosed as well. Both girls began working with a
team of doctors at UCSF and the NIH to receive
appropriate treatment and to participate in research
studies for their rare dual diagnoses.
“Dr. Fay has been instrumental in giving our girls so
many good days, good days where they can play and just
fun [sic] being kids,” Stephanie says. “Words could never
adequately convey how grateful we are for the incredible
care that he provides. He is an amazing doctor and
Kara Wicklund’s son, Isaac, experienced symptoms of an
autoinflammatory condition since infancy before finally
being diagnosed with Cryopyrin-Associated Periodic
Syndrome (CAPS), a rare autoinflammatory condition, at
the age of ten. He had started experiencing issues with
weakness around the age of six or seven, but it was hard
to isolate the symptoms from the reoccurring fatigue
associated with CAPS. Isaac continued to experience
significant weakness, often requiring the use of a
wheelchair for stretches of time, and still did not have a
clear answer by the age of 14. That all changed when
Kara recognized her own experience in Stephanie’s story.
A lifesaving connection
When Kara and Stephanie began talking about their
children’s symptoms, it became clear that Isaac had very
similar symptoms to Elizabeth in regards of weakness.
The local Minnesota doctors treating Isaac were not
familiar with the protocol for diagnosing and treating
MG, especially in addition to his inflammatory disease.
Stephanie advised Kara to bring Isaac to California to
meet with Dr. Fay and his team, but the Wicklunds didn’t
have the financial means to travel across the country.
Stephanie felt in her heart that she was being called to
help Kara’s family. She spoke to Dustin about paying to
fly the Wicklunds to San Francisco. “He said that we
couldn’t afford it, but I told him that I felt like I needed to
do this,” Stephanie says. When Stephanie called Kara
2

and offered to pay to fly her family to California and
cover their hotel stay so that Isaac could receive the care
that he needed from the experts treating Charlotte and
Elizabeth, Kara was blown away by the generosity of a
stranger.
“I was absolutely shocked… and slightly terrified that this
would end up being a crazy person in CA,” Kara says.
“But the kids’ stories were too similar, and we were so
stuck. So, I accepted the incredible gift, boarded the
plane with Isaac, and came out. Looking back, I still can’t
believe I went along with it. But I knew that we needed
help for him.”
The team at UCSF found that Isaac has the same
neuromuscular disease and diagnosed him with MG.
That diagnosis and the amazing generosity from one
family to another would end up saving Isaac’s life. A
month or two after receiving his diagnosis, Isaac went
into respiratory failure and was placed on a ventilator.
Dr. Fay and his team guided Isaac’s local medical team to
provide the care needed to treat Isaac and save his life,
treatment and guidance that wouldn’t have been possible
had Isaac not made the trip to California.
“Sharing our story saved his life,” Stephanie says.
“And that’s when I knew that I had to advocate for other
families and continue to tell our story to help others. If
doctors don’t know what to test for or what they are
looking for, they won’t find answers. I believe that we
are stronger together and that we can truly make a
difference by raising awareness.”
Advocacy, awareness, and research
Stephanie has made it her life’s passion to raise awareness
for MG, advocate for other families’ care, and support
innovative research. In fact, she is the co-founder of
a non-profit, Own MG, dedicated to patient advocacy
and awareness, as well as supporting, implementing, and
funding medical research for rare diseases.
“I just think that being able to change the clinical
approach for MG through innovative care, advocacy,
awareness, and support for families and patients is
critical right now,” Stephanie says. “Being able to help
further the current unprecedented research just has to
be done.”
The girls have traveled to Maryland to participate in
multiple studies at the NIH, where a team of researchers
are making strides in better understanding dual
diagnoses and in seeking new treatments for MG. “The
research that they are able to do is just amazing,”
Stephanie says. “This is such a hopeful and exciting time.
The researchers are so certain that they are going to find
the key to treating our kids and change the face of medicine.
I will always remain hopeful.”
Article available at: https://mdaquest.org/how-onefamilys-myasthnia-gravis-journey-is-helping-others/
"Believe you can and you're halfway
there."
- Theodore Roosevelt
2

By Hilton Purvis
II am permanently wheelchair based, requiring more
assistance for daily living than is polite to discuss around
the dinner table. Fortunately I am married to
WonderWoman, who happens to love me, the bushveld,
elephants, photography and sushi ... not necessarily
always in that order.
We have been enjoying the delights of the Kgalagadi
Transfrontier Park for the last four years, taking
advantage of the wheelchair accessible accommodation
in Twee Rivieren and Nossob. We have also managed
the Kalahari Tented Camp and on one daring expedition
ventured all the way up to Grootkolk, although it has to
be said that the bathroom facilities in both of these
camps are very difficult for wheelchair-bound travellers.
All the time Mata Mata eluded us, although we have
visited friends camping there, which also made the
attraction even stronger. The Mata Mata wheelchair
accessible accommodation is extremely expensive at
R3 520 per night, and given that one would want to
spend at least three nights enjoying the sights and
sounds of the region we just could not justify the expense.
This year, however, we were able to team up
with a friend, which helped to reduce the cost and gave
us the opportunity to finally spend time in Mata Mata!
There is only one wheelchair accessible cottage at Mata
Mata and unfortunately it is a four sleeper, so to make
the most of it one needs to travel with friends. The unit
is constructed in a “U” shape, with one bedroom and
en suite bathroom on the left, and the second bedroom
and en suite bathroom on the right. Both bathrooms are
wheelchair accessible.
In between lies the kitchen, dining and living areas. The
veranda is located in the centre of the U and is accessible
from a steep little ramp on all three sides. Tricky to
handle on one’s own, but easily manageable with help.
There is a really nice paved parking area outside,
connected to the cottage by a gently paved ramp.
Overall it is probably the most accessible unit in the
Kgalagadi Transfrontier Park.
Mata Mata certainly delivered on its promise and
provided us with very comfortable accommodation for
the wheelchair, and a steady supply of Kgalagadi
creatures walking past our riverfront veranda. It also
helped matters that we experienced some glorious full
moons rising over the river bed each evening, so bright
that it was actually better after lights out at 10 pm,
when the surrounding bush seemed to glow.
2

unit. There are two wheelchair accessible bathrooms in the
camp, but both are in the same cottage, and there is no other
alternative. We really hope that park management sees its
way clear to establishing a more affordable wheelchair accessible
cottage within the Mata Mata camp.
Mata Mata is the fifth wheelchair accessible camp that we
have now stayed at in the Kgalagadi Transfrontier Park. One
more to go ... Kieliekrankie.
Every morning and evening we were treated to a walk past by
a local wildebeest herd, and in the evening the water hole
attracted kudu and giraffe. Add to this a steady supply of
meerkats, ground squirrels, mongooses and jackals, together
with an abundance of birds (the bird hide was just adjacent to
our cottage) and we had a genuinely rewarding experience.
It is important, before closing, to return to the rather bizarre
bathroom situation that exists in the wheelchair accessible
We want to take this opportunity to thank Hope School, Iso Leso
Optics, Eastco Party Hire, SterStatus, Infinity Pageant, Central
South Africa Pageant and Jan Pieters for their kind donations
towards our High Tea Awareness Event on 23 July 2023.
2

I have long held the belief that there is no “silver bullet”
solution when it comes to the prevention of pressure
sores.
I am really lightweight and skinny, which at times has its
advantages, but the downside is that I am left with
absolutely no “padding”. This is a challenge for someone
who spends every minute of his waking day sitting in a
wheelchair and has no strength to shift or move my body
around during the course of the day. I have been dealing
with this now for nearly 50 years with the result that I
have probably tried all available options when it comes
to minimising the development of pressure sores. I have
experimented with various designs of foam, gel and air
cushions, different thicknesses, various profiles, covering
materials, and the use of sheepskin. You name it, I have
tried it.
They all work, but only for a while, and then they don’t
any more. My impression after all this time has been that
the actual solution is not to have a single cushion, but to
make use of a collection of cushions. Vary the cushion,
have a couple of different designs, and alternate them as
often as possible.
Something I have been using really successfully for over a
year now has been a “Tempur” brand car seat cover.
Tempur are a well-known and respected company of
mattress and cushioning products who produce a unique
memory foam core in their range. This product is more
than simply a fabric car seat cover. It incorporates a
breathable exterior fabric sandwiching a high-density
memory foam core creating a cushioning effect of its
own. The Tempur has proved to be a great addition to
my seating arsenal for a number of reasons.
A Tempur car seat cover is made from high-density foam
that conforms to the shape of your body, providing superior
comfort and support. This is especially beneficial for
someone who will be sitting in their motorised wheelchair
for extended periods of time as the foam conforms
MAGIC CARPET RIDE ...
to the individual’s unique shape, providing customised
support, reducing pressure points, helping to distribute
their weight evenly, and thereby reducing the risk of
pressure sores.
It is designed to be durable and longlasting. It is made
from high-quality materials that are able to withstand
the wear and tear of daily use. For individuals who
experience incontinence the cover can be easily removed
and washed, which helps to maintain hygiene and prolong
the life of the cushion.
The Tempur cover is easy to instal and remove, making it
a convenient choice for individuals who may need to
switch between different seating options. I am currently
placing a variety of foam cushions onto the base seat of
the wheelchair, and then securing the car seat cover
(with its elasticised straps and clasps) on top of that. This
gives me the option of changing the underlying foam
cushion, either in profile or in density, which allows for
an almost infinite combinations of seating options. These
can be swapped out in less than a minute, allowing for
them to be cleaned, aired, or simply rested for a couple
of days before being put back into use.
Lastly, a Tempur cover offers different configurations depending
on one’s wheelchair seat size. It can be folded,
moved and adjusted to suit the individual user and also
incorporates a removable support for the lower back,
which might suit many. I certainly find that this option
provides me with increased upper body support and
comfort for extended periods.
I have focused here on the Tempur offering but there are
a number of other companies producing car seat covers
which incorporate an element of foam support and
padding. Google is your friend in locating these covers,
and Takealot might well be able to take care of the delivery!
2

Sandra’s thoughts on
life’s rollercoaster
“Life is like a roller coaster. It’s never going to
be perfect – it is going to have perfect moments,
and then rough spots, but it’s all worth
it.” ‒ Patti Smith (https://quotefancy.com)
Life is certainly like a rollercoaster with many ups and
downs. We’ve all experienced “down” times when we
have wanted just to stay in bed, cover our face with the
sheet, and wait for the day to end ‒ not having the energy
or motivation to face it or the challenges that block
our road, hinder our progress and hamper our success
and enjoyment of life. Nobody’s life is without hindrances
or challenges, like bumps in the road. We need to get
used to having bumps in our road but also learn how to
handle them well.
On the other hand, we’ve also experienced “up” times,
such as those spent happily with friends and family, good
times that have brought us much joy, when we’ve
realised how important our loved ones are to us and
we’ve laughed until we couldn’t take it anymore. We’ve
also had times of success, when we’ve felt good about
being recognised for hard work and making a difference.
We can look back fondly on these positive times and
treasure the memories they hold.
Somehow we know automatically how to cherish the
good moments and enjoyable experiences, but when the
bumps show up we seem to lose our grip. They can slow
us down, make us impatient, lead to frustration, cause
stress and make us doubt our own abilities. So how do
we hold on when we hit the bumps in the road?
Here are some suggestions for dealing with the bumps
and dips you face:
• Identify a few simple practices that you enjoy, and
make them part of your daily routine.
• See the bump in your road as a relatively small
part of a bigger picture in which not everything is
as bad. Then clearly identify the specific problem
factors that you should deal with.
• Change your focus for a while by doing something
relaxing or being in the company of a supportive
person. Regain your energy.
• If the problem seems too big to handle, break it
down into manageable parts that give you more
clarity, control and choice in addressing the issue.
Remember that giving up is never an option if you focus
on having a positive mindset and staying true to yourself.
“We all have ups and downs. All of us are human.
But we are also the masters of our fate. We are
the ones who decide how we are going to react
to life.” ‒ Elizabeth Smart (https://
www.azquotes.com)
By Sandra Bredell
So, in conclusion, life will always bring you ups and
downs and bumpy times, but it remains your choice
whether you scream with frustration and want to give up
or whether you summon up positive energy and give
yourself fully to the rollercoaster ride. Take care on your
rollercoaster journey.
I just want to see what life's going to throw my way. So far, it's been very unexpected. I'm
kinda on a roller coaster and want to enjoy that.
- Anya Taylor-Joy
2

Question: Roche has registered the drug, Evrysdi, in
South Africa for treatment of spinal muscular atrophy
(SMA). How does Evrysdi work and what is the benefits?
Evrysdi (Risdiplam) is the first oral gene therapy medication
approved to treat SMA. In order to understand the
treatment, it is necessary to know something about
SMA.
SMA is a genetic condition caused by the loss of specialized
nerve cells, called motor neurons that control muscle
movement. Once these nerves die, the muscles become
weak and atrophy (when muscles get smaller).
SMA can affect a child's ability to crawl, walk, sit up, and
control head movements. Severe SMA can damage the
muscles used for breathing and swallowing. Although
most individuals with SMA present in infancy, the disease
can also present in childhood or adulthood for the
first time.
SMA is caused by genetic faults in a gene called SMN1
(survival motor neuron 1). Almost all patients have the
identical genetic fault – both copies of the SMN1 gene
are deleted (missing). It is not clear why there is then
such variability in the age of onset. One partial explanation
for the variability (and relevant to some of the new
therapies) is that all individuals have another nearly
identical gene to SMN1 called SMN2. This gene is not
critical for nerve cell survival, but may be present in variable
copy number in different individuals. As a broad
principle, individuals with more SMN2 gene copies (2-3)
have milder SMA disease than people with less SMN2 (1-
2) gene copies). This is because the SMN2 gene can partially
compensate for the absence of SMN1 (although
not entirely). Importantly, some of the new therapies
available for SMA, including Evrysdi (Risdiplam), are designed
to cause the SMN2 genes to produce more of the
missing SMN1 protein and thus make the disease less
severe. The more SMN2 genes an individual has, the
better the drug works.
Gene therapy is a technique that modifies a person's
genes or genetic material to treat or cure genetic disease.
Gene therapies can work by several mechanisms
and need to be tailored to the individual disease mechanism.,
The broad principle would be to recover the function
of critical proteins that are encoded by a gene. What
the therapies cannot do is to recover permanent damage
eg motor neurons that have already lost function entirely.
Some gene therapies are only given once, whereas
others require repeated doses, and the oral therapy may
be life-long.
In SMA, to date, three forms of gene therapy have been
developed. They are all very expensive and thus availability
and accessibility remain challenging. All have been
shown to have positive outcomes, especially when initiated
early in the disease, ideally presymptomatically.
The analyses of different patient subgroups showed that
motor function was generally improved in younger individuals
and stabilized in older individuals over trial periods,
usually of up to 1-2 years. These drug treatments
could significantly change the disease trajectory from
the known natural course of SMA. Trials in presymptomatic
individuals have shown that the start of symptoms
is delayed significantly. There are no long term studies
yet to show how long this effect lasts.
Evrysdi (Risdiplam) is now approved in the US and available
in South Africa for pediatric and adult patients with
SMA of all ages. It is an oral solution containing a smallmolecule
compound that modifies SMN2 pre-mRNA
splicing and increases SMN1. This medicine is given once
a day; dosing is dependent on age and body weight. Side
effects are reported. It is currently contraindicated in
pregnancy and breast feeding women and may cause
infertility in males.
As the best responses have been seen in individuals started on
therapy pre-symptomatically, this raises the importance of
early diagnosis. This would need to be achieved by screening
all newborns followed by early treatment with new drugs as
the standard of care for SMA. Importantly although the new
drugs like Risdiplam do not cure the disease, it is necessary to
continue developing new drugs or experimenting with drug
combinations. It is not yet clear whether patients who have
had one drug therapy could easily switch when improved therapies
are developed.
The release of the first oral gene therapy for SMA is an exciting
development as we enter a new phase of therapy, but many
questions remain about long term benefits and side effects.
Accessibility and cost remain challenging. Drug developments
are likely to progress with time, and we can hope that these
will eventually lead to the ability to completely alleviate the
disease symptoms and progression.
2

Random gravity check...
By Andrew Marshall
I know we all have falls because of our wonky muscles ,
maybe my experiences with the art of seeing ones
buttocks without a mirror are not as bad as many of
yours. I was thinking about the contrast between the one
I had the other evening when I had slid out of my bed
and was chilling on the tiles (winter time bites my bum)
and some of my falls I pulled off back in the day. I have
only broken a few little bones over the years (touch
wood) and I have always had someone around to help
me when said gravity was intervening.
I have experienced the magnificent art of bailing a bit
differently over the years. You see when I was writing my
memoir I wrote a lot about some of the falls I have had
and at the time these were the worst parts of this stupid
disease, well at least one of the main worst aspects of it.
In these I wrote about how embarrassing it was to be
different and how hard it was to make such a monumental
spectacle of myself on such a regular basis. Well inside
my mind and heart I built it up to be titanic. Even
though I was dealing with how I perceived that the world
was pointing and laughing at me I explained how every
time I fell, no matter the severity of the mishap I would
do it absolutely everything to get back up and on my feet
so to speak. I remember writing a part of it where I had
fallen out of my chair on the grass outside and while trying
to get back to my wheels it rolled across the lawn. I
will never forget the feeling I had of determination and
stubbornness coursing through my veins while leopard
crawling down the slope to retrieve my wheels. I wrote
once I had fallen out of my chair and how desperate and
determined I was to get back up to it. Once I wrote about
going to the bathroom to make a wee and falling with
my walker on top of me into the bath. After the first
phase of my emotions washed over me I will never
forget that same feeling of drive, deterioration and
stubbornness that I must get back up, I must maintain
control swept over me
If I miscalculate a transfer or have a sneezing episode
and propel myself to the ground now days I know that
there is little I can do to firstly prevent the accident, not
do any further damage to my body because this is definitely
a thing and finally get someone’s attention
because I know I’m going to need help. At one point I in
a weird way kind of enjoyed my falls. Well enjoyed is a
really strong word. I think I more liked the feeling of having
climbed up back into my wheelchair or maneuvered
my body into a place I felt more comfortable. I felt like I
was physically and sort of mentally in a weird way
fighting this thing. I felt I had battled, and was ‘sort of’
triumphant. When I fall now I have a completely different
experience. I think back to the other day when I fell
off my shower chair in the shower. I actually cut my eye
open and needed to go get some stitches but even if I
don’t hurt don’t mutilate myself I still feel like I am in a
slow motion movie when leading up to this viewing of
my ass. Once I get into the position where I can’t recover
and I am ‘in mid air’, I have a resigned almost calming
feeling. The feeling of not being able to peel myself off
the floor, no matter how much I grit my teeth and swear
under my breath is a really painful thing to lose. Ja I suppose
it is the nature of our dodgy muscles, we are constantly
loosing our ability to do stuff we previously could.
2

Talking about sneezing and coughing I can’t tell you how
difficult a road hay-fever has been for me to transverse
over the years. You see I have always have been a victim
of the affects of hay-fever. At the end of winter time
when the plants and grass dry up I have sneezing fits
every year. Besides ‘sNOT’ being pretty at all and it being
extremely annoying, it has the potential to be extremely
dangerous. I have broken three or four pairs of glasses
from my body weight being disturbed and my center of
gravity being whipped out from underneath me and I
end up slamming my face into the desk or something.
Luckily I don’t really bruise that easily, but I have certainly
had the odd egg on my forehead, scrapes on my nose
or somewhere on the face and a shiner or seven so the
ladies think I’m tough. #thuglife I have had to train
myself to batten down the hatches when I feel the
sneezes building up and hold whatever I can. The problem
is when I sneeze my muscles tense and I don’t have
much control. So like the other day when I bailed In the
shower I had no chance even though I was strapped in,
and Tim my helper was with me. He had just turned to
put some toothpaste on my toothbrush.
I don’t fall nearly as much as I did when I was still
‘walking ‘ or more so when I was relinquishing the ability
to do this , in my body and mind. Like I have said before,
this muscle disorder may be fully a physical problem but
on a mental and emotional level we have even bigger
fish to fry. My days of stopping walking were an incredibly
stressful time, not only for me but also those around
me. My mother says she used to listen to the sounds of
my gravitational experiments and try to judge how bad
it was. Not to mention the amount of furniture, toilet
seats or car grab rails I have broken or just pulled off. So
falling has been a massive part of my life but now has
morphed into something a little different for me but
every time this gravitational force intervenes I come
face to face with the person I wanted to know more
about when I was first diagnosed with this craziness. I
wrote a part where I was lying on my bed and getting
dressed, imagining what it would be like when I became
completely incapacitated. Embarrassing as this is for me
to admit I was picking each leg up and maneuvering it
into my pants leg, making out they had no life in them. I
was using my wheels already but I remember I was still
walking on the treadmill at the gym a few times a week.
Now that I am nearly completely incapacitated I look
back upon that day and I just want to give that skrawny
kid a hug and tell him all the things I know now that I
didn’t back then.
Time is a weird concept, it brings with it previously
unconsidered perspectives…
2