Autumn Issue 67
Muscle Riders 2022
Life at the
Eye problems in
POWERbreathe Better Breathing
1-78 cmH 2 O
IN THE UK
10 Products for reduced hand function
12 Cellular Therapy Treats Muscular Dystrophy Effectively
14 New Long-term Approach for Limb-girdle Muscular Dystrophy
16 Investing in Genetic Testing
17 Kevin’s Story
18 Life at the Intersection of Disability and LGBTQ
20 "Nothing I wouldn't do": This dad is climbing Mount Everest to
raise awareness and money for his son's condition
22 Life-Saving PJ’s Protocol Was Inspired by a Person With DMD
26 SAFARI TENT LIVING ... Part 2
25 Doctor’s column
28 The view from down here
30 Random gravity checks
32 Fulcrum Plans Phase 3 Trial of Potential 1st Oral Therapy for
34 Genetic treatment plus exercise reverses fatigue in mice with
muscle wasting disease
36 Speech Therapy
38 Eye problems in different types of muscular dystrophies
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
Managing Editor: Gerda Brown
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Cover photo by Strike a Pose
Future Issues: August 2022
(Deadline: 1 July 2022)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profit organisation that supports people affected
by muscular dystrophy and neuromuscular disorders and that
endeavours to improve the quality of life of its members.
From The Editor:
Every start of a new year is a new chance to get the year off to a good start. There
is a lot to be said for “positive self-talk”, and many people believe that a positive
mindset brings more positive effects into your life. Whether you believe this or
not, having a positive mindset is never going to be a bad thing.
All of us keep a running conversation with ourselves throughout the day. It
could be personal observations or thoughts on life or the circumstances of your day. Instead
of continuing the pattern of negative self-talk, break the cycle and practise how you can change your
outlook on life and increase your self-esteem with positive thoughts.
“Watch what you tell yourself, you’re likely to believe it.” – Russ Kyle
How you feel about yourself depends on how you “speak” to yourself – with positive self-talk or negative
self-talk. Very often, we take negative things people say to us and replay them over and over in our
minds. Eventually, we hear this negative message from ourselves so often that we start to believe it
and feel angry, fearful or even guilty. Overwriting these thoughts with positive self-talk changes those
feelings to joy, hopefulness, and happiness.
The Foundation also started this year on a positive level. At our Strategic Planning meeting we made
plans on how to assist our members better and also how to keep in line with global trends. You can
read more about these plans in “National News”. In this edition you can also read about innovative
assistive devices, available treatment options and the newest research projects.
We wish you well for this year. Make it a positive one despite what is going on in the world right now.
If there is information that you would like to share with our readers, please feel free to contact the
MDF Notice Board
Subscription and contributions to the
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.
If you are interested in sharing your
inspirational stories, please let us
know and we'll be in touch to discuss
this with you. The Foundation would
love to hear from affected members,
friends, family, doctors, researchers
or anyone interested in contributing to
the magazine. Articles may be edited
for space and clarity.
MDF SA database
If you know people affected by
muscular dystrophy or neuromuscular
disorders who are not members,
please ask them to contact us so that
we can register them on our database.
If we do not have your current e-mail
and postal address, please contact
your branch so that we can update
your details on our database.
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.
Crossbow Marketing Consultants
(Pty) Ltd are doing invaluable work
through the selling of annual forward
planners. These products can be
ordered from Crossbow on 021
700-6500. For enquiries contact the
National Office by e-mail at national@
mdsa.org.za or call 011 472-9703.
Contact the National Office or your
nearest branch, or visit our website,
to find out how you can support the
MDF support information
For more information about the Muscular Dystrophy Foundation, the
benefits of being a member and details on how to become a member, call
your nearest branch.
Tel: 011 472-9703
Address: 12 Botes Street, Florida
Banking details: Nedbank, current
account no. 1958502049, branch
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street,
Banking details: Nedbank, current
account no. 2011007631, branch
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida
Banking details: Nedbank, current
account no. 1958323284, branch
Tel: 012 323-4462
Address: 8 Dr Savage Road,
KZN BRANCH (KZN & part of
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Banking details: Nedbank, current
account no. 1069431362, branch
General MD Information
Tel: 021 794-5737
Win van der Berg (Support Group)
Tel: 021 557-1423
Jan Ferreira (Support Group
Cell: 084 702 5290
Cell: 082 608 4820
Cell: 079 885 2512
Tel: 079 594 9191
Friedreich’s Ataxia (FA)
Cell no: 084 405 1169
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Tel: 011 640-1531
Tel: 017 683-0287
What is MDFSA planning for 2022?
The mission of the Muscular Dystrophy Foundation of South
Africa is “to support people affected by muscular dystrophy and
neuromuscular disorders and endeavour to improve the quality
of life of its members”. To remain relevant and in line with global
trends, the Executive Committee, together with representatives
from the branches, met on 12 March 2022 to discuss the way
forward for the Foundation and how we should transform our
programmes to serve our members better.
This year we will change our focus from a generic approach to
specific types of muscular dystrophy. Support groups will be
established for selected types of muscular dystrophy as well as
creating national and international alliances and networks. This
will ensure that we can share the newest developments with you,
our very special members.
We will also strengthen our awareness and public education
programmes and invest in the upskilling of our employees.
A very exciting development is our partnership with TREAT-
NMD in the United Kingdom. TREAT-NMD is a network for the
neuromuscular field that provides an infrastructure to ensure that
the most promising new therapies reach patients as quickly as
possible. The network’s focus has been on the development of
tools that industry, clinicians and scientists need in order to bring
new therapeutic approaches through preclinical development
and into the clinic, and on establishing best-practice care
for neuromuscular patients worldwide. We are very thrilled
to implement this project as it will bring us one step closer to
accessing therapies and treatments as they become available.
We are very eager to start implementing the objectives of the
Strategic Plan and are hopeful that our members will join us on
We are stronger together
By Gerda Brown
A support group brings people together who are going through, or have gone through, similar experiences; it
provides them with an opportunity to share personal experiences and feelings, coping strategies, or firsthand
information about diseases or treatments (Mayo Clinic, 2020).
According to the Mayo Clinic, the benefits of participating in a support group may include the following:
• Feeling less lonely, isolated or judged
• Reducing distress, depression or anxiety
• Talking openly and honestly about your feelings
• Improving skills to cope with challenges
• Staying motivated to manage chronic conditions or stick to treatment plans
• Gaining a sense of empowerment, control or hope
• Improving understanding of a disease and your own experience with it
• Getting practical feedback about treatment options
• Learning about health, economic or social resources
Support groups have been established for Duchenne, limb-girdle, and facioscapulohumeral muscular
dystrophies and spinal muscular atrophy. If you would like to join a group, please contact Gerda Brown at
email@example.com or 011 472-9703.
Mayo Clinic. 2020. “Support groups: Make connections, get help.” https://www.mayoclinic.org/healthylifestyle/stress-management/in-depth/support-groups/art-20044655#:~:text=Benefits%20of%20
? ? ?
The Muscular Dystrophy Foundation of South Africa is looking for a mascot, and we want YOU to design it.
Think you have what it takes? Then start drawing, and don’t forget to give it a name!
Entries should be A4 size and in full colour.
Please send your entries to Gerda Brown at firstname.lastname@example.org by 30 June 2022.in R500.00 for your
design and mascot name!
Please email your order and proof of payment to
S-M & L-XL:
S-M & L-XL:
Please note that the delivery
charge is for your cost.
(500 ml) R50.00
(380 ml) R100.00
MDFSA would also like to say a big thank you to Tamryn Oosthuizen for
designing the beautiful artwork for our fundraising campaigns free of
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Article and further information available at:
CELLULAR THERAPY TREATS MUSCULAR
BY ANGELA MOHAN
MEDINDIA, MARCH 14, 2022
Findings from the trial were published in The
In the Phase II clinical trial, the researchers used
Capricor Therapeutics' CAP-1002 allogeneic
cardiosphere-derived cells (CDCs) obtained
from human heart muscles. These cells can
reduce muscle inflammation and enhance cell
"The primary mechanism of the CAP-1002
therapy is to help reduce the disease's serious
chronic inflammation problems, decrease fibrosis
and improve muscle regeneration, and thereby
maintain or improve critical heart and skeletal
muscle function", McDonald said.
The jury is still out. Several companies have high
hopes for candidates under development.
Cellular therapy offers promise for patients with
late-stage Duchenne muscular dystrophy (DMD),
a rare genetic disorder causing muscle loss,
physical impairments, as per the new clinical trial.
The therapy appears to be safe and effective in
stopping the deterioration of upper limb and
heart functions. It is the first treatment to lead to
meaningful functional improvements in the most
severe cases of DMD patients.
"HOPE-2 is the first clinical trial to test systemic
cell therapy in DMD", said Craig McDonald, the
trial's national principal investigator and lead
author on the study.
"The trial produced statistically significant and
unprecedented stabilization of both skeletal
muscle deterioration affecting the arms and heart
deterioration of structure and function in nonambulatory
The trial examined the long-term efficacy and
safety of repeated intravenous infusions of CAP-
1002 for the treatment of late-stage DMD.
It enrolled 20 patients with DMD at seven U.S.
centers. The participants were at least 10 years
old with moderate weakness in their arms and
hands. They were randomly assigned to receive
either CAP-1002 or a placebo every three months
for one year, with a total of four infusions.
The team assessed upper limb function using
the scale Performance of Upper Limb (PUL) motor
function for DMD, heart function using cardiac
magnetic resonance imaging (MRI), spirometry
measures of respiratory function, and circulating
The researchers assessed the PUL for the
participants at their first infusion and after one
year. They measured the change in the mid-level/
elbow PUL scores between these two readings.
The study found significantly favorable change in
participants who received CAP-1002, compared
to those who got the placebo. There was far less
deterioration of upper extremity muscle function
in the cell-treated group.
The cardiac MRI also showed that the heart
structure and function seemed to improve in
participants who received CAP-1002.
"Here we show the promise of cell therapy in
preventing the progression of heart disease in
a rare genetic disease, but there is good reason
to believe that such therapy may one day also be
used for more common forms of heart failure",
said co-author Eduardo Marban, a pioneering
heart researcher who first discovered that CDCs
might be useful in treating DMD.
McDonald and collaborators in other centers in
the United States are launching a Phase III clinical
trial, HOPE-3. The goal of this study is to confirm
the efficacy of CAP-1002 in a larger cohort of
"The FDA has signaled that a larger Phase III
study would be the next step toward gaining drug
approval. We need to confirm therapeutic durability
and safety of CAP-1002 beyond 12 months for the
treatment of muscular degeneration in the heart
and skeleton", McDonald said.
DMD is a disorder that affects about 1 in 5,000
people - mostly boys. It usually becomes apparent
in early childhood, causing progressive weakness
and chronic inflammation of the skeletal, heart
and respiratory muscles and delays milestones
such as sitting and walking.
Patients with DMD typically lose their ability to
walk in their teenage years and develop heart and
lung complications as they age.
reatments for DMD are limited and there is no
known cure. Current therapies that target skeletal
muscles are not as effective in treating the heart
muscle weakened by DMD.
A therapy that stabilizes or reverses heart
deterioration, while improving upper limb function,
would be unique in its ability to address the
tremendous burden of disease seen in advanced
"This cell-based therapy is innovative in that
it addresses critical needs of patients with the
most severe disease burden and stabilizes both
upper limb and heart function. Therapies that
address the later stages of the disease can make a
tremendous impact on the quality of life for boys
and young men with DMD and lessen the burden
of care for their families", McDonald said.
Article available at https://www.medindia.net/news/cellular-therapy-improves-signs-andsymptoms-of-duchenne-muscular-dystrophy-206082-1.htm
NEW LONG-TERM APPROACH FOR
LIMB-GIRDLE MUSCULAR DYSTROPHY
BY DR JAYASHREE
MEDINDIA, JANUARY 5, 2022
A new gene therapy for a rare disorder, known
as limb-girdle muscular dystrophy (LGMD) was
developed by experts at Children's National
The treatment was safe, and muscle strength [sic],
according to the study published in the Journal of
“A single injection of a low dose gene therapy
vector in limb-girdle muscular dystrophy restored
the ability of injured muscle fibers.”
With an incidence of less than 1 in 100,000,
LGMD2B is a rare disorder caused by a genetic
mutation in a large gene called dysferlin. This
faulty gene leads to muscle weakness in the arms,
legs, shoulder, and pelvic girdle.
Affected children and adults face trouble walking,
climbing stairs, and getting out of chairs.
Individuals typically lose the ability to walk within
years after the onset of symptoms and often need
assistance with everyday tasks such as showering,
dressing, and transferring.
A new study described an approach that avoids
the need for packaging a large gene, like dysferlin,
or giving a large vector dose to target the muscles,
which are bottlenecks faced in ongoing gene
therapy efforts aimed at muscular dystrophies.
"Currently, patients with LGMD2B have no gene or
drug-based therapies available to them, and we are
amongst the few centers developing therapeutic
approaches for this disease," said Jyoti K. Jaiswal,
M.Sc. Ph.D., senior investigator of the Center for
Genetic Medicine Research at Children's National.
The genetic defect in dysferlin that is associated
with LGMD2B causes the encoded protein to be
truncated or degraded. This hinders the muscle
fiber's ability to heal, which is required for healthy
In recessive genetic disorders, like LGMD2B,
common pre-clinical gene therapy approaches
usually target the mutated gene in the muscle,
making them capable of producing the missing
The large size of the gene mutated in this
disease, and impediments in body-wide delivery
of gene therapy vectors to reach all the muscles,
pose significant challenges for developing gene
therapies to treat this disease.
To overcome these challenges, researchers
found another way to slow down the disease's
progression. They built upon their previous
discovery that acid sphingomyelinase (hASM)
protein is required to repair injured muscle cells.
Based on this fact, researchers administered a
single in vivo dose of an Adeno-associated virus
(AAV) vector that produces a secreted version of
hASM in the liver, which then was delivered to the
muscles via blood circulation at a level determined
to be efficacious in repairing LGMD2B patient's
injured muscle cells.
Increased muscle degeneration necessitates
greater muscle regeneration, and we found that
improved repair of dysferlin-deficient myofibers
by hASM-AAV reduces the need for regeneration,
causing a 2-fold decrease in the number of
These findings are also of interest to patients
with Niemann-Pick disease type A since the preclinical
model for this disease also manifests poor
Researchers are working to further enhance the
efficacy of this approach and perform a longerterm
safety and efficacy study to enable the clinical
translation of this therapy.
Article available at: https://www.medindia.net/news/new-long-term-approach-for-limb-girdlemuscular-dystrophy-205019-1.htm
BY PETER BLACKBURN
I am a 32-year-old male from Cape Town,
South Africa. In 2019 I was diagnosed with
facioscapulohumeral muscular dystrophy (FSHD).
It took me many years to find out what was going
on with my body. I knew something was wrong
from my early 20’s, but I was the ostrich sticking
its head in the sand hoping it would pass. The long
road of seeing specialists began, trying to find
out what was wrong, and it took several years for
doctors to get the diagnosis of FSHD. Since then I have been working extremely hard to improve my
quality of life, even if just by 1%.
When I started doing rehab, I had a pipe dream of doing the Cape Town Cycle Tour (CTCT). I knew it
would take everything I had and that it seemed to be an unrealistic goal. There were a lot of ups and
downs, but I always got back up and pushed forward. Last year, when the event was allowed to go
ahead, I had a last-minute entry and thoroughly enjoyed the ride and was extremely proud and happy
This year while training for my second CTCT, I thought it would be a great opportunity to do fundraising
at the same time. So this year I have teamed up with the Muscular Dystrophy Foundation of South Africa
(MDFSA). We have decided to raise funds for genetic testing kits for FSHD so other individuals can get
help in confirming their diagnoses.
I am hoping to raise R10 000 towards this great cause, and I would appreciate all possible help so we
can reach this goal!
Many thanks from the bottom of my heart.
Peter finished the CTCT in 3 hours on 13 March 2022. He raised a total amount of
R20 432.00. This will enable 40 individuals diagnosed with FSHD to confirm their
Peter, we applaud you for your effort and kind donation!
By Centers for Disease
Control and Prevention
thinking long term without making it sound like I
was thinking long term.”
“Stairs were tough, but I could do them. Then I
decided to use the cane, and then the crutch. I
had six trips to the ER during the first two and a
half months of the year, all from falls. My doctor
said next time it would be a broken hip, and I’d
be in the hospital for months. That’s when I got
the wheelchair. Now I can do so much more.”
Kevin was 28 when he was diagnosed with has
facioscapulohumeral muscular dystrophy, or
FSHD. “I don’t want my identity to be my muscular
dystrophy. I don’t want people to think I sit at
home and can’t do anything. I don’t ever want to
have a day where I don’t have lots to do.”
Leading an active life with muscular dystrophy has
its challenges, but Kevin takes them all in stride.
There was the frustration this former distance
swimmer and three-time Junior Olympian felt
when he couldn’t swim 25 yards. And the time he
was headed to a black tie dinner only to cancel
his plans when he learned that one of the two
wheelchair cabs in town was broken. “That was
a real ah-ha moment. I don’t want to be in that
position again…the position of not being able to
do something because of my limited mobility.”
Kevin was living in Washington, DC when he was
diagnosed with FSHD. As the muscle inflammation,
wasting, and loss of balance got worse, his doctor
suggested he move someplace warmer that had
FSHD specialists. Kevin chose Atlanta. “I took a big
pay cut. I was looking for a less stressful job with
really good insurance. My new company offered
long term disability insurance from day one. I was
Earlier this year Kevin decided to go on disability.
Volunteer work keeps him busy, and his physical
and mental health has improved. He works with
the Humane Society and helps lead a fundraiser
supporting AIDS vaccine development. He’s
registering to be a citizen lobbyist during the
next Georgia legislative session. Kevin also
has an idea to help others with FSHD. “We need
something to help people when they’re first
diagnosed. New patients ask the same questions.
It’s overwhelming to learn you have a disease you
can’t even pronounce. Social media is helping
connect patients and break down the isolation
faced by many with FSHD.”
As Kevin enters his second decade living with
muscular dystrophy, he laughs that he turned 40
and got a minivan in the same month. “I don’t
think that’s how your midlife crisis is supposed
to go.” When asked if he thinks about the next ten
years, he says “I can’t go there. I can’t stress about
the things I can’t control. Today my life is great.”
Article available at: https://www.cdc.gov/ncbddd/
Life at the Intersection of Disability
By Elizabeth Millard
MDA, February 14, 2022
when being LGBTQ intersects with disability.
Adding more barriers
When Elisa Ramos, a 28-year-old Central Valley,
California, resident with myasthenia gravis (MG),
walks into a restaurant with her partner, she’s
keenly aware of the looks.
“I already face discrimination and displacement
because of my disability,” she says. “My scars,
medical equipment, and dragging feet get
attention, and being with a female partner
amplifies that.” Planning around her mobility
needs and medication side effects has long been
a part of her life. Now, she must consider whether
she’ll be in a safe space as a bisexual woman.
Elisa is far from alone. Although LGBTQ acceptance
has been making strides in recent years — a survey
by advocacy group GLAAD found that non-LGBTQ
Americans are becoming more knowledgeable
about the community — the organization reports
that there’s still ample room for improvement.
As Elisa and many others with neuromuscular
diseases have found, that’s even more pronounced
For Texas resident Rodrigo Duran, 30, an MDA
Ambassador, the difficulties with the intersection
started early. Already bullied as a child because
his congenital muscular dystrophy (CMD) affected
his balance and walking, the negative attention
intensified when he came out as gay at 14.
“We all want to be accepted and treated as an
equal, and for me, coming out pushed that further
away,” he recalls. In college, he found it difficult
to fit into the LGBTQ scene because many in the
gay male community were so focused on physical
appearance that his disability left him feeling
shunned, he says. “It felt like one more step back
instead of forward,” Rodrigo says.
Another challenge is that there isn’t much
conversation around disability and sexuality, adds
33-year-old Emily Lund, PhD, assistant professor
of rehabilitation counseling and counselor
education at the University of Alabama, who
identifies as nonbinary, asexual, and lesbian, and
also lives with cerebral palsy.
intersectionality of disability and being LGBTQ,
being part of the latter community brings an
additional level of support for some people.
“The LGBTQ community is magical, welcoming,
and undeniably embracing,” Elisa says of her
experience. “Everyone celebrates their differences
and all that they are, which has helped me be more
kind to myself and my disabilities. Also, because
the community is so inclusive, I feel like I’ve never
been in a position where I felt ashamed of who I
am or needed to explain myself.”
Although Rodrigo’s initial experience with the
community wasn’t magical, he eventually found
a group that made him feel safe and welcomed.
Now, he feels accepted by the LGBTQ community
and has a partner. He believes that the change
came because he showed more confidence and
“I honestly believe I broke a barrier by showing
that I live with CMD and don’t care what others
think about me,” he says. By embracing his
disabilities, including the way he walks and his
epilepsy, he drew more people toward him who
showed kindness and embraced him for who he is.
“There tends to be discomfort around the idea of
disabled people as anything other than children,”
says Dr. Lund. “We are not considered as sexual
or romantic beings, and even when that happens,
there’s an assumption that all disabled people
are heterosexual. There needs to be much more
awareness and conversation around relationships
in general, with understanding about queer
Within the LGBTQ community, though, Dr. Lund has
seen more awareness of disability and willingness
to interact with people with disabilities with less
awkwardness. She believes this comes from an
appreciation of how it feels to be marginalized.
Despite the challenges of navigating the
“In both the disability and LGBTQ communities,
my advice is to find the people who make you feel
like you belong,” Rodrigo says.
Navigating the Intersection
Check out these resources to learn more about
living at the intersection of having a disability and
• RespectAbility: LGBTQ+ People with Disabilities
• GLAAD: LGBTQ Resource List
• The Trevor Project
• “Special” on Netflix
Article available at: https://strongly.mda.org/life-at-the-intersection-of-disability-andlgbtq/
The Muscular Dystrophy Foundation of SA
would like to thank the National Lotteries
Commission for their support.
"Nothing I wouldn't do": This dad is climbing
Mount Everest to raise awareness and money
for his son's condition
Fulcrum Plans Phase 3 Trial of Potential 1st Oral Therapy for
Genetic treatment plus exercise reverses fatigue in mice with
muscle wasting disease
By Patricia Inacio, PhD
Muscular Dystrophy News Today, March 8, 2022
"This is a big physical feat for me, but I draw
motivation from the fact that every time my son
even tries to walk or move or do anything a normal
little kid would do, he's expending tremendous
effort," Doeden told CBS News. "So, for me, it's
easy to work hard I guess."
Connor Doeden, now 4, was was diagnosed with
Duchenne muscular dystrophy when he was two
Connor was was [sic] diagnosed with Duchenne
muscular dystrophy when he was 2 years old.
"Duchenne is disorder that causes muscle wasting
of every muscle in the human body," Doeden said.
"And it's ultimately fatal. There is no cure ... and
we are trying to change that."
In people with Duchenne, the dystrophin protein
that is needed for muscles to function properly, is
missing or found in very small amounts. Duchenne
primarily affects boys and men, with 1 in 3,500
to 5,000 boys born worldwide having Duchenne,
and by the time they become teens, their life
expectancy is severely reduced.
Dillon Doeden is a self-proclaimed non-athlete –
and yet, he's embarking on one of the toughest
physical feats, climbing Mount Everest. The dad
from Omaha, Nebraska, is motivated by someone
special: his 4-year-old son, Connor, who has a
from [sic] of muscular dystrophy called Duchenne.
The disease is rare, but Connor is not alone.
Doeden met a fellow dad on Facebook, who has
a son with Duchenne. Jim Raffone also runs JAR
of Hope, a charity to bring awareness and raise
money for Duchenne research.
"[Raffone] said, 'Hey, we're going to do this big
fundraiser, we're going to climb Everest and help
try and fund a clinical trial for Duchenne. You
might be my kind of crazy. Are you in?'" Doeden
said. He asked his wife what she thought and she
told him he should absolutely go.
"I am so grateful another dad in the Duchenne
community is coming on the Climb For The Cure,"
Raffone said in a statement to CBS News. "We need
to work together to make Duchenne a household
That's why they're planning to climb Everest – the
world's tallest mountain.
"I've gotten some people questioning, 'Well, why
are you going to Everest? Why are you going
halfway around the world to do this, can't you
do something locally?' And I guess the answer is
that I would do anything for my son and we chose
Everest because, well, quite frankly, it merits some
attention," Doeden said.
Dillon Doeden said his wife told him he should
absolutely do the Mount Everest hike.
Raffone, Doeden and two other men will start their
trek in April. Their fundraising goal is $95,000,
but the clinical trial Raffone hopes to fund costs
Doeden said he's been training for the climb
– which is 80 miles round trip – and he feels
confident he can do it.
For Doeden, the difficulty is worth it – because
of his son. "This isn't necessarily something I
would've done on my own. But because we're
doing it to help my son and others dealing with
Duchenne, it's easy to stay motivated in my book.
Like, there's nothing I wouldn't do," he said.
Article available at: https://www.cbsnews.com/news/dillon-doeden-mount-everestduchenne-muscular-dystrophy/
The Muscular Dystrophy Foundation of SA
would like to thank the National Lotteries
Commission for their support.
Shout-out to Separations for their kind donation.
Your support is highly appreciated.
Life-Saving PJ’s Protocol Was
Inspired by a Person With DMD
By Claire Sykes
MDA, February 16, 2022
At Daytona International Speedway, if you see
a silver wheelchair-accessible minivan flash by
outside the stadium, it’s shuttling people who
need assistance getting around the expansive
venue. Philip James “PJ” Nicholoff would be happy
knowing that his family donated his beloved van
to the speedway, and its back windows display
signage honoring him.
A big NASCAR fan, PJ lived with Duchenne muscular
dystrophy (DMD) for 31 years. He may no longer
be driving that van, but his father, Brian, proudly
proclaims that “PJ drives on” with the medical-care
guidelines he inspired: the PJ Nicholoff Steroid
The guide that saves lives
Long-term corticosteroid treatment, which is
common for DMD and Becker muscular dystrophy
(BMD), leads to adrenal suppression, meaning the
body is unable to produce enough cortisol on its
own. In this case, rapid reduction or withdrawal
of corticosteroids can lead to life-threatening
corticosteroids, and how to taper those extra
doses off to avoid dangerous withdrawal.
Whether the protocol is in a medical facility’s
care guidelines, the hands of a parent arriving
with their child at the ER, or a patient’s electronic
health record, it equips families to advocate for
proper care for their loved one. It also aims to
ensure that no one else goes through what PJ and
his family did.
A treasured life
First diagnosed with DMD at age 4, PJ started a
corticosteroid two years later and was on it for
the next 25 years. “It delayed the progression
of the disease for several years. But, eventually,
he experienced common adverse side effects
of weight gain, cataracts, kidney stones, and
mood swings,” Brian says. “The biggest one is
osteoporosis. During PJ’s teenage years, before
using a wheelchair, he broke his femur, hips, and
ankles in falls. Each one took him down a little
more, and then he could no longer walk.”
The six-page PJ’s Protocol, as it’s commonly
called, outlines procedures that healthcare
providers should follow for patients who depend
on corticosteroids. It explains how to safely
manage corticosteroid treatment for them in
emergency situations. It also points out the signs
and symptoms of acute adrenal crisis (when
cortisol plunges to life-threatening levels), how
to prevent this by giving stress (extra) doses of
In 2013, while the family was in Florida, PJ fell
from his wheelchair trying to make it to the bed.
“I saw that his legs were crossed underneath him
and that he had fractured his hip and also his
humerus,” Brian recalls.
They wanted PJ to be closer to their home in
Indianapolis, so he was flown to a hospital there for
emergency orthopedic surgery. It was successful.
Soon after, though, his lungs filled with fluid, his
heart raced at over 100 beats per minute, and his
blood pressure plummeted. Six days later, he died.
“We’ll never know for sure what happened,” says
Brian. “On the day of PJ’s surgery, he was given
the correct dose of steroids. But a review of his
medical records three months later showed that
afterward, while he was hospitalized, he didn’t
receive the necessary stress doses of steroids for
some reason. This, along with other causes, may
have contributed to his death.”
incorporated into DMD critical-care guidelines in
the UK, Australia, Italy, and South America.
What you can do
PJ’s Protocol is accepted in the neuromuscular
medicine community, and awareness of it is only
growing. However, many healthcare providers
in ERs and intensive care units may not know
about it, since they often lack expertise in rare
diseases, such as DMD and BMD. Individuals who
are corticosteroid-dependent and their families
should be prepared to advocate for themselves.
Fueled by love
The Nicholoff family — Brian, his wife, Barbara,
and their son Justin, now 34, who has a mild form
of DMD — decided to use their experience to help
others who are vulnerable in emergency situations
because of their corticosteroid treatment, like PJ
Larry W. Markham, MD
Barbara, Brian, Justin, and PJ Nicholoff (clockwise)
Along with PJ’s primary physician, his family
worked with the hospital where PJ had his surgery
and with Parent Project Muscular Dystrophy
(PPMD), assembling a group of neuromuscular
disease experts to write and review PJ’s Protocol.
It took 15 months.
When the protocol was released in 2015, word
quickly spread on Facebook sites for PJ’s Protocol
and the Jett Foundation, and on the MDA and
PPMD websites. Articles about it landed on the
pages of peer-reviewed medical journals. Brian
also met with chief medical officers, and others
at nursing and pharmacy organizations, and he
spoke at conferences and webinars. PJ’s Protocol
has reached beyond the United States and is
“A patient or family member can show PJ’s Protocol
and say, ‘it’s in the medical literature, it’s been
published, and it carries the stamp of approval
from these organizations — and it pertains to my
child in this setting,’” says Larry W. Markham, MD,
a pediatric cardiologist at the MDA Care Center
at Riley Hospital for Children in Indianapolis who
has been involved in the multidisciplinary care of
muscular dystrophy patients since 2001.
Here are four ways you can educate others about
the PJ Nicholoff Steroid Protocol:
1. Share the full protocol with your medical
2. Ask your medical institution if the protocol is
part of their care guidelines. If not, advocate for
it to be added.
3. Print out MDA’s wallet-sized DMD Emergency
Room Alert Card, and keep it with your health
4. Order PPMD’s weatherproof DMD Emergency
Information Card to hang from a wheelchair or
Advocacy makes a difference
While MDA and many other organizations publicize
the protocol and champion patient advocacy,
medical advances in neuromuscular disease
continue to charge ahead.
Dr. Markham has noticed that more patients and
families are becoming involved with foundations
and organizations to drive clinical care and
research forward. “Patient advocacy has led to
increased focus on proactive care for all DMD
patients,” he says.
In addition, patients and their families are
supporting research through funding or advocating
for new areas of scientific inquiry. “Collectively,
they’re making the case to industry, saying, ‘You
can make progress here,’” he says. “There are any
number of clinical trials of DMD drugs up for FDA
approval, the biggest area of Duchenne research
being gene therapy. That’s the result of advocacy.”
This gives the Nicholoff family hope in the face of
their hurt. “When you lose your child so young, you
never really bury them, but you learn to live with
it.” Brian says. “Not a day passes that I don’t think
of or do something about PJ’s Protocol, because I
know it’s helping people. And PJ lives on because
of that. That’s what makes me smile when I think
of my son.”
Article available at: https://strongly.mda.org/life-saving-pjs-protocol-was-inspiredby-a-person-with-dmd/
Finally, a Compact Life-Support Ventilator
To meet the needs connected to a wide range of respiratory
conditions, a ventilator must offer outstanding clinical
versatility and performance. However, just as importantly,
it must be designed around the patient’s life, activities and
home environment. That’s why we’ve created Vivo 45 LS
– a life support ventilator for adult and paediatric patients
from 5 kg.
The Vivo 45 LS is designed to maximize independence
and mobility. That’s what we mean by “Designed For EveryDay
Life”. Same ventilator through life The Vivo 45 LS
is adjustable for the patient’s needs, and can adapt as
those needs change. This means that a patient can stay
with one device throughout any disease progression, for
non-invasive or invasive treatment, and up to the point of
Find more on Respiratory &
Ventilation Channels Medical
Or call us on 086 111 4028
Prof Amanda Krause, MBBCh, PhD MB BCh, Medical Geneticist/Associate.
Professor. Head: Division of Human Genetics. National Health Laboratory
Service (NHLS) & The University of the Witwatersrand.
Please e-mail your questions about genetic counselling to gmnational@
What makes SMA genetics unique? What
is the SMN2 gene?
Spinal muscular atrophy (SMA) is one of many diseases that causes muscle weakness, typically in early
childhood. It is one of the most common genetic (inherited) neuromuscular diseases affecting 1/8 000 to
1/10 000 individuals.
Spinal muscular atrophy is 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 adulthood for the first time. SMA is caused by genetic faults in a gene called SMN1
(survival motor neuron 1).
Spinal muscular atrophy is inherited in what is termed an autosomal recessive pattern of inheritance. This
means that affected individuals have two faulty (missing) SMN1 gene copies, generally one inherited from
each parent. Parents are not affected with SMA as their other SMN1 gene copy functions normally, but they are
so-called carriers. When two carriers have children, each child has a ¼ or 25% of being affected, a ½ or 50%
chance of being a carrier, and a ¼ or 25% chance of being unaffected. The chance for each child to be affected
Almost all individuals who have SMA 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 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 or 3) have milder disease than people with
fewer SMN2 gene copies (1 or 2 gene copies). This is because the SMN2 gene can partially compensate for the
absence of SMN1 (although not entirely).
Importantly, one of the new therapies available for SMA, nusinersen (Spinraza) is 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. The number of SMN2 genes can be tested.
There have been some important and exciting recent new developments in the treatment of SMA. There are
at least three new drugs to treat SMA: nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma)
and risdiplam (Evrysdi). All are forms of gene therapy and are being shown to have very positive outcomes,
especially when initiated early in the disease. Unfortunately they are all very expensive, and thus availability
and accessibility remain challenging.
Do all forms of muscular dystrophy begin in childhood?
Muscular dystrophy is not a single disease but rather a group of conditions caused by faults in many hundreds
of different genes. Muscular dystrophies may vary dramatically in severity, age of onset and prognosis. A person
with muscular dystrophy typically has faults in one gene. The exact faults may vary in different individuals,
even within the same gene. In severe forms, symptoms may be present at birth or even in utero. In other forms,
individuals may present with disease only in adulthood.
SAFARI TENT LIVING ... Part 2
In the previous edition of this magazine I
introduced you to the concept of "safari tent
living", and more specifically a review of the
Grootkolk experience. Now I look at our second
example of this type of accommodation inside
a SANParks national park, namely the Kalahari
Tented Camp, in the Kgalagadi Transfrontier Park.
This wilderness camp, consisting of only 15 tents,
lies just south of Mata Mata and is perched on
the edge of an escarpment overlooking the broad,
deep, dry Auob river bed.
As with all of the unfenced wilderness camps,
there is a permanent ranger on duty not only to
manage the campsite and see to your general
well-being, but also to ensure that everyone is
safe. The tents consist of a permanent canvas
structure for the sleeping quarters and bathroom,
together with an adjoining solid wall kitchen unit,
connected via an open veranda. The area for your
car is covered and fenced to provide an element
of safety from lions and hyenas when entering or
exiting your vehicle.
The design of the camp is such that each safari
tent has a high degree of privacy, with your
neighbour’s tent being visible only from your
veranda. It is extremely quiet and peaceful, with
very little human traffic and almost no vehicle
noise or activity. If you are looking to get far from
the maddening crowd for a real escape into the
bush, then look no further.
By Hilton Purvis
The view is spectacular, with the morning light reflecting off the far "riverbank" and the evening sunsets
casting a beautiful light onto the escarpment. You can experience animal encounters and sightings
at any time of day. From our veranda we watched giraffe stride gracefully down the river bed in the
morning, saw wildebeest and springbok grazing peacefully during the day, a cheetah drinking from the
nearby waterhole in the afternoon, and jackals hunting doves at the same waterhole in the evening.
The design of the tent is such that there is an element of safety whilst sitting on the veranda since
you are slightly elevated from the surrounding landscape. You do need to be sensible and vigilant,
however, particularly in the evening when preparing food. There are no fences. One evening we were
visited by four black-backed jackals interested in our presence and the possibility of scoring a free meal.
They never posed a problem or threat, but we kept a close eye on them and ensured that there were no
temptations on offer which might cause the quartet to encroach too closely. We enjoyed their company
a great deal, and since they were only a few metres away for nearly an hour, we came to appreciate how
handsome, refined and elegant they were. It goes without saying that in situations such as this you DO
NOT feed the animals!
On our last visit we returned to the camp just before the 7 pm curfew after enjoying an early supper
braai with friends camping in Mata Mata. SANParks quite rightly doesn't want visitors moving around
in the dark in an unfenced wilderness area. Approaching our tent, we found that the campsite had
gained a visiting car guard, one which had no need for tips! Lying right outside the car parking area of
a neighbouring tent was a very sleepy-looking lioness. Obviously that was the most comfortable spot
for her, and fortunately for us we were able to sneak by and reach our own accommodation safely. She
was in fact one of two lionesses sleeping in the camp that night, with the other being the mother of two
new cubs secreted in the bushes nearby. The following day, spooked by the proximity of an adult male
lion, the two girls moved the cubs to a safer location. You can only enjoy these sorts of experiences in
a wilderness camp!
The larger, fenced camp of Mata Mata is just a few kilometres down the road and offers visitors the
opportunity to refuel their motor vehicles and to refuel themselves at the small convenience store. Basic
food items are available as well as the important items of drinking water and braai supplies. Mata Mata
also functions as a border post between Namibia and South Africa.
All of the safari tents have solar power for lighting purposes and use gas for cooking and refrigeration.
The local water is not potable and can be used only for washing purposes. All drinking water has to be
carried in by you; hence the possible convenience of nearby Mata Mata. The entire safari tent area is on
one level, with the parking space consisting of hard, compacted gravel, and the accommodation area
having a mixture of concrete and wood flooring.
he tent’s en suite bathroom is wheelchair accessible, with limitations. It is small, with only frontal access
to be toilet and narrow side access to the shower. There are grab rails in all the usual places, and the
handbasin is at a suitable height for wheelchair access. These might be issues if you are permanently
confined to a wheelchair, but if you are able to stand, take a couple of steps, or have assistance they
would not be a problem. Something which we have tried recently and found to be really successful has
been to purchase a couple of rubber car footwell mats (from MIDAS) and place them strategically in the
bathroom where good traction is required. They travel in the car, in the footwell, so they don't take up
any space, and they can help to make slippery bathroom floors far more manageable.
Nearly 10 years ago I managed to accidentally
break my leg, and whilst recovering in hospital a
good friend gave me an iPod containing a number
of audiobooks to help pass the time. The iPod
lasted another five years and then gave up the
ghost, which apparently they all tend to do at that
age. I had developed quite a liking for the little
MP3 player and the opportunity that it afforded
me to enjoy not only the audiobooks but also my
digital music collection. I replaced it with a little
unit made by the memory card company SanDisk,
quite a funky little neon green replacement called
a ClipSport, which neither clips nor does any sport
but is still going strong! Who would have thought
then how valuable this little item would prove to
be with the onset of COVID-19 and the limitations
placed on our movements and activities.
Audiobooks have proved to be something of a
godsend for someone with my level of disability.
The closures of our public libraries forced my
wife, Loretta, to turn to her computer tablet as a
substitute and develop her collection of ebooks.
These have kept her busy, interested and occupied
along with other unexpected occupations such
as the completion of puzzles (who would have
thought they would make such a comeback in
the 21st century?), bee keeping, and replacing
the endless stream of electrical appliances which
Eskom seems hell-bent on trying to break!
Audiobooks are a little more challenging to source,
especially on a limited budget. There are a number
of paid-for sites, including the likes of Audible,
Google Audiobooks, Scribd, Kobo Audiobooks and
Downpour, to name but a few. Free audiobooks
can be found at sites such as Spotify, LibriVox,
Lit2Go, BBC Sounds and Open Culture. There are
many more. Google is your friend.
Following the dictum of "nothing for nothing",
there is a reason why some books are available
free. In the last 10 years I have come to experience
two discernible changes in audiobooks, firstly that
the quality of narration has improved noticeably,
and secondly that the free or cheaper repository
sites tend to stock books that are either older or
have narration which is not up to scratch. I find
that an audiobook lives or dies depending on
the voice of the narrator. A poor story can still
be worth listening to if the narration is suitably
interesting and involving. Likewise a good story
can be completely ruined by a narrator with a
weak or thin voice tone.
Voice quality rests on three main pillars: the tone,
the pitch and the speed. If these are well-paced
you will find yourself being able to listen to the
narrator for hours without any effort or fatigue.
I even find myself regretting to have to pause
books in order to get on with some other business
at hand. The narrator holds my interest and keeps
me wanting to hear the next chapter. Unfortunately
I have a number of other books whose content I
dearly wish to listen to because the subject matter
interests me greatly, but the narration is at a poor
pitch and tone, leaving me irritated after only 10
or 15 minutes of listening. Really frustrating!
I have found that it does not matter whether the
narrator is male or female, old or young. I have
listened to a number of books about war and
conflict, subjects which you would not necessarily
associate with a woman's voice, yet the female
narrator has done an excellent job of conveying
the story. I have also tried a couple of books
which have made use of multiple narrators. The
idea sounds good, with male and female voices
for male and female characters respectively, but
somehow it doesn't quite work as easily as that.
I have found multiple voices to be distracting ‒
not quite sure why that is. A single, quality voice
seems to be the key, regardless of the sex of the
characters in the book.
In the same vein the narrator does not necessarily
have to adopt an accent in order to lend any
credibility to their characters. If the book is
about the American space programme, the
narrator does not need to have an American
accent to be believable. Sometimes it can lend
a fresh experience to a book, such as the one I
am listening to at the moment covering the drug
wars in Colombia. This audiobook, narrated by a
Spanish woman, proceeds at a really nice pace,
and her accent and ability to correctly pronounce
the characters and place names adds something
extra to the story. The accent however is not
crucial, but the quality of the voice is. I don't mind
a little variation here and there; you don't want
all of the books to sound the same. That is part
of the problem with the early audiobooks. They
all tend to sound very mechanical and monotone,
which does not make for an involving experience.
There is no doubt that the more recent books are
making use of professional narrators, or possibly
Something which I am experimenting with on
the side is investigating the possible translation
of ebooks into audiobooks. There are a lot more
ebooks available, so if you can find a suitable digital
"translator" program or app, the choice of listening
material becomes a lot wider. The problem I am
encountering is the same one I mentioned earlier
in this article, namely that the paid-for programs
seem to be able to produce listenable narration,
but the free software produces very mechanical
voices which are horrible to listen to. This is an
ongoing quest. If you have any good suggestions
or recommendations, please let me know.
Until then, happy listening, and keep safe!
By Andrew Marshall
A bit of a delicate topic
For years now I have had a few problems with
managing my waterworks, owing in part to the
logistics of getting my bottle into my pants with
the required urgency and precision, and in part
to general deterioration of muscles over time. I’m
sure many of you can relate to this. As the years
have gone by my bladder has given me more and
more uphill. I’ll be going about my day as normal
and then feel that I have the biggest pee ever on
board and that if I don’t open the sluice gates
NOW my bladder will explode and I’ll be swimming
home so to speak. In the last few years I’ve had
to call more often for help with getting my bottle
into my pants and have struggled more to restrain
my urine, with different degrees of success. If I
don’t succeed, well, let’s just say this really pisses
This probably goes without saying, but the
problem depends on how much I drink and what
it is that I drink. For example, coffee goes through
my system much faster than just plain water or
fruit juice. And then my favourite guilty pleasure,
beer, makes me pee like a racehorse, which is
completely understandable because it is after all
a diuretic. When I was younger I could handle a
lot more, and not only because I had a lot more
dexterity with the bottle (even if my dexterity
diminished after a few for different reasons). I’m
a bit of a cheap date nowadays (tell your single
girlfriends). If I do wet myself, even if it’s just a
little, I feel terrible, especially when I am out. It
makes me feel like less of a man, like I’m a baby
that can’t even control his bodily functions.
I have seen on a few forums that people with
my brand of muscular dystrophy, Friedreich’s
ataxia, also have these issues, and some of the
older guys and girls use catheters. I won’t lie
to you, I was hugely freaked out by this, at the
same time as thinking I’m not disabled enough
to be using something like that. But I can think
of many occasions when this would be extremely
beneficial and make life so much easier. I have
read many conflicting testimonials, and the most
recommended catheter by far is the Suprapubic
Catheter because it does not go through your
urethra; it goes directly to your bladder through
your stomach, cutting out a lot of infections and
saving my gentleman area from distress. I will find
out more about this option when I go to see a
urologist in a few months’ time. I have also read
that people use medications, and when someone
I knew personally had only good things to say
about it, this pushed me to ask my doc if I could
give them a shot. He prescribed some for me
to try but said if I had further problems in this
department I would need to see a urologist. I had
been taking the meds for about three weeks and
felt I was doing a lot better when I ran into quite
a large obstacle.
I was out for the afternoon and had a beer and a
half, and as I’ve already said, this normally makes
me flow like a waterfall. I knew from experience
that I needed to keep things moving to avoid a
catastrophe. I didn’t feel like I needed to go but
passed a little; it definitely wasn’t my normal
racehorse volume after beer. When I tried to go
again a few hours later, I could feel my bladder was
full but only a few more drops came out. I’d had
this happen to me before but normally if I lay down
and tried to relax my tense body I had success. By
the time I came home I was really uncomfortable
and lay on my bed and tried for a couple of hours
to pee into the bottle. By this time I was in pain and
desperate to go. Luckily my Mom, a retired nursing
sister, recognized the condition and started the
catheterization procedure but found her catheter
too old and perished, so we took off at speed for
a private night emergency centre. After two hours
of sitting in a waiting room and nearly passing
out in their toilet, despite Mom begging for me to
be laid flat, she recognized I was in what is called
hyperreflexia, sweating profusely with raised
blood pressure, terrible spasms and pain. We then
decided to take off and go to another hospital but
experienced the same level of no care. Mom finally
went to the emergency pharmacy and bought a
catheter, but they did not have all the necessary
bits and pieces, so she just made do with what she
had and quickly did the procedure when we got
home, after wasting nearly four hours of severe
discomfort. Oh what a relief… it was the biggest
and best pee I have ever had. Thanks Mom.
We are in communication with the hospitals
because this was an emergency and I was stuck in
the waiting room, in the sitting position, behind
someone with a cold and someone who had a
sprained ankle. It was ridiculous. Not everyone
has a carer with medical knowledge, and if they
have urgent problems what happens then? What
has become of our private hospitals?
FULCRUM PLANS PHASE 3
TRIAL OF POTENTIAL 1ST
ORAL THERAPY FOR FSHD
BY PATRICIA INACIO, PHD
MUSCULAR DYSTROPHY NEWS TODAY, MARCH 8, 2022
plans to launch a Phase
3 trial of losmapimod, a
potential oral treatment for
dystrophy (FSHD), by June.
The announcement of the trial,
called REACH, follows clinically
relevant benefits seen in the Phase
2b ReDUX4 trial (NCT04003974)
and consultations with key
regulators, including the U.S.
Food and Drug Administration
(FDA) on the trial’s overall
“Results from the Phase 2b
clinical trial demonstrated that
losmapimod slowed disease
progression and improved
function in people with FSHD,”
Bryan Stuart, Fulcrum’s president
and CEO, said in a press release.
“Based on these data as well as
insights gained from the trial
on optimal measures of disease
progression, we aligned with
regulators, including the FDA,
on key aspects of the design of
the REACH trial. With positive
data, we expect REACH to be the
basis for [regulatory] approval.”
Losmapimod is an oral
medication designed to block
the activity of the proteins p38
alpha and p38 beta. Over 90% of
FSHD patients carry mutations
in the DUX4 gene, causing its
abnormally high activity and,
as a consequence, muscle
degeneration and fat infiltration.
By blocking p38 alpha and
p38 beta, losmapimod aims
to stop this disease-causing
In the ReDUX4 trial, 80 adults
with FSHD (mean age of 45.7
years) were randomly assigned
to losmapimod, given twice daily
at 15 mg, or a placebo tablet for
Although losmapimod failed to
reach the trial’s main efficacy
goal — reduced activity of
the DUX4 gene — it showed
relevant clinical benefits
versus the placebo on multiple
measures of muscle health and
function and patient-reported
outcomes after nearly a year.
These included a reduction in
muscle fat infiltration (MFI) in
affected muscles and reachable
workspace (RWS) — a measure
of the range of motion in the
upper limbs known to correlate
with the ability to independently
conduct daily living activities.
Patients on losmapimod
reported feeling better than
those on the placebo.
“We learned from our Phase 2b
trial that RWS, MFI and patientreported
outcomes are reliable
measures of disease progression
and that we can observe
meaningful differences in these
endpoints [goals] compared to
placebo after just 48 weeks of
treatment with losmapimod,”
said Judith A. Dunn, PhD,
Fulcrum’s president of research
Moreover, no serious treatmentrelated
adverse effects were
According to Fulcrum, the failure
to reach the trial’s primary
goal was likely linked to a wide
variation in participants’ starting
levels of DUX4 activity, and to
the needle biopsy approach used
that proved to be too imprecise.
“REACH is optimized to
demonstrate similar statistically
and clinically significant benefits
and represents an important
step in delivering a life-changing
therapy to people with FSHD,”
The REACH trial expects to enroll
around 230 adults with FSHD.
Participants will be randomly
assigned to losmapimod,
administered orally as a 15 mg
tablet twice a day, or a placebo,
for 48 weeks.
The trial’s main goal is to assess
changes from pre-treatment
(baseline) in reachable
workspace. Secondary goals
include muscle fat infiltration,
patient global impression of
change, and quality of life.
of healthcare use will also be
“Losmapimod is the first and
only investigational medicine in
clinical development” for FSHD,
said Nicholas Johnson MD, a
professor, division chief of
neuromuscular, and vice chair
of research in the neurology
department at Virginia
Commonwealth University. “The
data to date are very promising,
showing meaningful clinical
benefit and a well-established
safety and tolerability profile.
I look forward to further
investigating losmapimod in the
Fulcrum will host a live webcast
on FSHD featuring Johnson
and Jay J. Han, MD, professor
of physical medicine and
rehabilitation at the University
of California, Irvine.
The webcast is scheduled for
March 24, from 10 am to noon
ET and can be accessed here. An
archived replay will be available
on the website for up to 90 days.
GENETIC TREATMENT PLUS EXERCISE
REVERSES FATIGUE IN MICE WITH MUSCLE
BY SCIENCE DAILY, NOVEMBER 30, 2020
Adding exercise to a genetic
treatment for myotonic
dystrophy type 1 (DM1) was
more effective at reversing
fatigue than administering
the treatment alone in a study
using a mouse model of the
disease. In fact, exercise alone
provided some benefit whereas
the genetic treatment alone did
not. This study, carried out by
researchers at the Massachusetts
General Hospital (MGH) and
collaborators, has implications
for patients who experience
fatigue due to genetics-related
musculoskeletal diseases as well
as other types of illness-induced
fatigue. The study appears in
Molecular Therapy ‒ Nucleic
"It's encouraging that exercise
makes a noticeable difference on
its own and in combination with
a genetic treatment specifically
tailored for the disease," says
Thurman M. Wheeler, MD, an
investigator in the department of
Neurology at MGH and at Harvard
Medical School. Wheeler was the
senior author of the study.
DM1 is the most common
muscular dystrophy in adults,
and one of several genetic
conditions that cause muscle
wasting and progressive
weakness. Patients with DM1
report that chronic fatigue is
the most debilitating symptom
of their condition, although the
biological underpinning of this
effect is not known. Wheeler and
his colleagues wanted to test the
value of exercise in reversing
The disease is caused by a gainof-function
mutation that leads
to the expression of higher
levels of a genetic element called
an expanded microsatellite CUG
repeat. The researchers used
mice genetically engineered
to carry the same defect and
treated some of them with an
antisense oligonucleotide, which
is essentially a strand of genetic
material that sticks to RNA to
repair specific gene defects.
Then they studied the effects
of exercise on old mice with
the gene defect who received
only the oligonucleotide, some
that were only compelled to
exercise, some that had both the
treatment and exercised, and a
group that received a placebo (a
saline solution). They compared
the post-exercise activity levels
of mice in each of those arms of
the trial. They also measured the
responses of young mice with
the defect who just received the
placebo. The mice's activity was
measured using a special type
of enclosure that records the
This study provides preliminary
answers to at least two questions:
How effective should scientists
expect gene therapy for this
disease will be in actual patients?
And could exercise benefit such
"We were surprised that even
on its own, exercise helped the
mice recover from exertion more
quickly," says Wheeler. "Exercise
plus the antisense treatment
had an even greater effect. But
the antisense alone was of no
While it seems like common
sense that exercise would help
patients suffering from muscle
weaknesses, some clinicians and
researchers wondered if it could
also have the opposite effect and
actually hasten patients' decline.
Wheeler and his colleagues'
study suggests that is not the
case and that the effects of
exercise could be beneficial to
these patients and others with
Wheeler's co-authors included
colleagues at the MGH
Department of Neurology as well
as researchers from Beth Israel
Deaconess Medical Center.
The Elaine and Richard Slye
Fund, Muscular Dystrophy 525
Association and the National
Institutes of Health supported
Article available at: https://www.sciencedaily.com/ ases/2020/11/201130131451.htm
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BY MUSCULAR DYSTROPHY NEWS TODAY
• In facioscapulohumeral muscular dystrophy
(FSHD), those diagnosed in their teens or
early adult years do not generally experience
problems with speech production except for
nasalized speech. However, those with infantile
FSHD have speech problems because of oral
muscle weakness that, in some patients, is
further complicated due to hearing loss. Speech
issues in these patients include problems with
consonant and vowel sounds, difficulties with
inflection, intonation, and the proper spacing
and pauses between words, as well as problems
in producing high-pitched sounds.
• Patients with limb-girdle muscular dystrophy
type 1A (LGMD 1A) also may have isolated
bulbar weakness or weakness in the tongue
and pharynx, which may lead to dysarthria and
• In oculopharyngeal muscular dystrophy (OPMD),
tongue and pharyngeal weakness can cause
dysarthria and dysphagia.
Muscular dystrophy (MD) refers to a group of
inherited muscle disorders caused by mutations in
genes that generate proteins that play an essential
role in muscle structure and function. The disease
causes progressive weakness and wasting of
muscles in different parts of the body, including
the arms, legs, head, and neck.
In some types of muscular dystrophy, weakness
in the facial and oral muscles that control the
use of the tongue, lips, soft palate, cheeks, and
diaphragm results in problems with speech quality
(dysarthria) and voice quality (dysphonia).
Speech problems by MD type
• In patients with Duchenne muscular dystrophy
(DMD), speech problems may precede muscle
weakness. Some of the speech problems
experienced by patients with DMD include late
onset of speech, problems with finding words,
and non-fluent speech.
• In congenital and childhood myotonic dystrophy
type 1 (DM1), patients have difficulties with
bilabial consonants (consonants made with both
lips like “b,” “m,” and “p”), interdental articulation
(“th”), and hypernasal speech, because of
weakness in the oral and facial muscles. In DM1,
hypotonia (low muscle tone) causes monotony,
hypernasality, hoarseness, shorter stretches of
speech, a slow speech rate, and a decrease in
volume and intelligibility. On the other hand,
myotonia (delayed relaxation of voluntary
muscles) causes irregularities in speech fluency
Speech therapy methods
There are several ways by which speech problems
can be treated under the directions of a speech
therapist. These methods include:
• Exercises to help improve strength and
coordination of the muscles in the throat,
tongue, cheeks, mouth, diaphragm, soft palate,
and lips, for clear and precise articulation and
• Exercises to strengthen or relax the muscles
that control the palate and the vocal cords to
overcome breathy and hoarse speech;
• Expiratory and inspiratory muscle strength
training that helps to breathe in and out in one
breath and practice to speak with emphasis and
proper flow between breaths;
• Vowel prolongation tasks that improve the
duration and loudness of speech;
• Phonetic placement techniques (e.g., hands-on,
descriptive, pictures) to work on the positioning
of the mouth, tongue, lips, or jaw while speaking;
• Exaggerated articulation to emphasize phonetic
placement and increase precision.
When speech intelligibility or efficiency is reduced,
other communication strategies, including
augmentative and alternative communication can
be used to supplement natural speech. These
• Unaided modes such as manual signs, gestures,
• Voice training in which patients are taught how
to talk slowly and articulate more carefully
and clearly when speaking by exaggerated
articulation, and controlled and modified
• Aided methods such as line drawings,
pictures, communication boards, tangible objects,
and speech-generating devices;
• Augmentative supports like voice amplifiers and
artificial phonation devices such as electrolarynx
devices (battery-operated machines that produce
sound), intraoral devices, and oral prosthetics to
Article available at: https://musculardystrophynews.com/speech-therapy/#:~:text=In%20
EYE PROBLEMS IN DIFFERENT TYPES
OF MUSCULAR DYSTROPHIES
BY MARISA WEXLER MS
MUSCULAR DYSTROPHY NEWS TODAY, JANUARY 10, 2022
Oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy is a form
of muscular dystrophy that primarily affects the
muscles of the eyes and throat. The first symptom
is typically ptosis, when the upper eyelid falls or
droops because of weakened muscles, that affects
This form of muscular dystrophy also can cause
paralysis of the muscles that control eye movement
— a condition known as ophthalmoplegia — and
myopia, or double vision.
Facioscapulohumeral muscular dystrophy
In people with facioscapulohumeral muscular
dystrophy, weakness of facial muscles can make
it difficult to close the eyes completely, referred to
as lagophthalmos. Typically one side of the face is
more severely affected than the other.
Coats’ disease, a condition characterized by
abnormalities in the blood vessels of the eye,
may occur in people with this form of muscular
People with myotonic dystrophy can have ptosis.
Cataracts, a clouding of the eye lens that can
impair vision, also are common among this patient
Myotonic dystrophy patients may experience
blepharitis (inflammation of the eyelids) and
Congenital muscular dystrophies
Congenital muscular dystrophies are a group
of conditions that lead to muscle weakness
and wasting from birth or shortly thereafter.
Eye problems are common in several types of
congenital muscular dystrophy.
uscle-eye-brain disease, as the name suggests, is
a form of congenital muscular dystrophy in which
the eyes are one of the main body parts affected.
Uncontrollable eye movements, nearsightedness,
and glaucoma (damage to the nerve that connects
the eyes to the brain) are common in this disease
Many people with Walker-Warburg syndrome
experience problems where the eyes are abnormally
shaped or sized. Glaucoma and cataracts may also
Those with Fukuyama congenital muscular
dystrophy may experience eye problems such as
strabismus — when the eyes do not align properly
— and cataracts.
Duchenne and Becker muscular
In people with Duchenne or Becker muscular
dystrophies, the eye muscles are rarely affected,
although abnormal electrical activity of the retina
in response to light has been reported.
Limb-girdle muscular dystrophy and Emery-
Dreifuss muscular dystrophy
imb-girdle muscular dystrophy (LGMD) typically
does not affect the muscles that control eye
movement, whereas ptosis has been reported in
patients with Emery-Dreifuss muscular dystrophy.
Management of eye problems
A number of strategies can help to alleviate or
manage eye problems associated with muscular
dystrophies. Simple measures such as using
sunglasses can reduce UV ray exposure, thereby
minimizing eye strain and damage. Regular visits
to an optometrist can help to monitor eye health.
If symptoms are particularly severe, surgeries may
be warranted to help alleviate certain eye problems.
For example, specific surgical procedures can
help to remove cataracts or to provide support
to eye muscles that can help combat ptosis.
Because muscular dystrophy patients often have
other ongoing health problems, any surgery or
anesthesia must be carefully considered because
of the risk of complications.
Article available at: https://musculardystrophynews.com/eye-problems/
Gauteng Branch News
Surviving COVID-19 with muscular dystrophy
By Joy Davis
My name is Joy. I am 60 years old and living
with muscular dystrophy. In May 2021 I got
COVID-19, and I was hospitalised for about two
weeks in Milpark Hospital before I recovered.
I had caught the virus when one of my
neighbours passed by near my door. She
greeted me and told me not to come nearer
to her as she had just tested positive for
COVID-19. The lady was not wearing a face
mask and we were not positioned close to one
After I woke up in hospital I couldn’t remember what had caused me to land up there. Later my
husband, Larry, told me that I had passed out, and an ambulance had come and taken me to the
hospital. There I was told that I had COVID-19 and would be treated in hospital. Luckily I had
already had my first jab of vaccine and was just waiting to go and get another one. While in hospital
I was given too many medications, but the good part is that I was never on a ventilator and could
breathe well by myself.
The experience of having the virus and being in hospital was very bad. I’m glad that I made it out.
I would like to encourage those who have not been vaccinated to consider doing so. I strongly
believe that those who are vaccinated stand a good chance of overcoming COVID-19.
It is also important to always follow the rules and regulations for reducing the spread of COVID-19:
wearing your face mask whenever you are in contact with someone, keeping your social distance,
and washing your hands regularly.
I learnt that you don’t really have to be positioned close to someone in order to catch COVID-19.
You can be quite far away from them, but without a face mask anything can happen.
947 Ride Joburg 2021
By Robert Scott
The second-largest timed cycling event in the
world, 947 Ride Joburg 2021, saw 29 cyclists
take on the event in support of the Muscular
Dystrophy Foundation of South Africa, Gauteng
Branch. The team was made up of 19 adults and
The road event started and ended for the first
time at the FNB Stadium and had an all-new
route for the Muscle Riders to tackle. Many
obstacles were overcome and the entire team
completed the race and achieved their goals
of supporting those affected with muscular
Our kids’ team took on the annual kids’ race
event at Steyn City and had an amazing day doing their part and riding for a purpose!
We would like to thank all those who participated and assisted the Foundation in bringing hope to
all of its members. Muscle Riders did it again!
Gauteng Branch News
Muscle Riders 2022 – it is time to practise!
By Robert Scott
One of the most valuable fundraising platforms available to charity organizations is the 947 Ride
Joburg cycling event, which takes place every year
in November. Our team, “Muscle Riders”, have
taken part in nine events over the years, and for
2022 we are going big!
We are proud to announce that this year we
are partnering with an organization called
“The Practice”. This will see some exciting
new additions to the team, such as access to
specialized training programmes free of charge,
and so much more! We will be revealing these
exciting additions in the coming months and
cannot wait to share them with all of you.
Muscle Riders will be taking part in the main
road race, kids’ race and MTB events, so there is something for everyone. This year also sees an
exciting new short ride event of 35 km, so if you are inexperienced or want something a little less
gruelling, this is for you!
Dust off those bicycles, find your helmet and join us for the 947 Ride Joburg 2022 event! For more
information, contact Team Leader, Robert Scott, at firstname.lastname@example.org.
MDFSA, Gauteng Branch would like to extend a special word of thanks to both the
Kirkness Family Trust and the Setzkorn Family Trust.
Both donors awarded us with generous grants in the first quarter of 2022 and we
could not be more grateful for their continued support!
Cape Branch News
My and my brother’s surfing experience at
By Sanjay Narshi
The last time I had been in the ocean was when I was about 11 years old.
Having muscular dystrophy, I never thought I would ever get the opportunity
to be in the ocean again, until we found out about the Roxy Davis
They fi rst put a wetsuit on you and then put you onto a buggy, which they
roll into the sea, and from there they transfer you onto a surfboard. You can
either lie flat on your tummy or sit up, and your assistant sits and holds you
from behind. The session lasts for 45 minutes, and throughout you have
eight people around you. So you are safe at all times.
What an exciting, exhilarating,
life-changing time we
had. I would highly recommend
trying this out for all
our members ‒ it’s an opportunity
not to be missed, and
it’s there for us, the disabled
community. I can say the
whole team are very experienced
and know what they
Outing to Green Point
Nine learners from Astra School enjoyed an outing to Green
Point Park on 9 March 2022. We started the morning off with
muffi ns and fruit, after which the boys explored the park.
It was great to be outdoors in the sunshine again, and we
treated them to lunch from McDonald’s before they headed
back to school.
Adult support group
Our adult support group resumed after a very long break
due to COVID-19. We decided to have a bring-and-share
event and enjoyed delicious eats and fellowship. It was also
a farewell for Mariam Landers, who was a dedicated social
auxiliary worker for nearly fi ve years.
It is often said that the two most important days
in an individual’s life are the day that they are
born and the day that they die. I beg to differ
and humbly ask for the reader’s indulgence ‒ in
my opinion the most important days are those
between birth and death. The reality of life is that
with birth comes the certainty of death, but how
we spend our time in between is what determines
the legacy we leave behind. One could
argue that a legacy refers to one’s children, a
monetary value or a business empire. But is
this really what the concept of a legacy should
speak to? Consider for a moment what a different
world we would live in if “legacy” was a
word synonymous with the phrase “making a
What do we leave when we leave?
By Rani Naidoo
This brief write-up speaks of a young lady who could certainly be described as different in a physical sense
but also as different in the sense of what she could do that would make a difference to those around her.
Mohini Marishka Jackson was born to Mano and Rani Naidoo on 31 January 1991. Her early years were
very similar to that of any toddler, but there was always a strong faith in her religious beliefs. She was
diagnosed at a tender age with muscular dystrophy, which was a tremendous blow to her parents, as back
in the early 90’s very little was known of this condition and its effects. The monthly trips to the specialists
became a norm, and eventually Mohini understood the severity of what she would have to endure for the
rest of her life. Despite the odds being stacked against her, Mohini ultimately chose to be a force for social
good and would not let her condition get the better of her. In her early years she and those around her
quickly learnt that she had a passion for music, with singing being her strong point. This became a favorite
pastime for her, and eventually she learnt that it would be another arrow in her quiver on her journey
to making the world a better place.
Always an academic, Mohini went through her primary school years with ease, consistently achieving at
the top of her grade. She thereafter attended the National School of the Arts, and this is where she was
exposed to children of many different backgrounds and ethnic beliefs. There she learnt to embrace people
of different cultures, beliefs and sexual orientations, ultimately understanding that kindness and love are
a universal language shared by all. Having completed her fi nal year at secondary school, she obtained a
full scholarship into university. Her passion for children and the community led her to pursue her studies in
the fi eld of social services at Wits University, and in 2009 she was the recipient of the Golden Key Award
for outstanding achievement in her fi eld. She went on to complete her honours degree and worked for
the Department of Social Welfare, specializing in foster care.
In her teen years, Mohini affiliated herself to a gospel outreach team, a group of teenagers who had a
passion for the community and were consistently involved in upliftment of the community and in spreading
the gospel. This may have been the catalyst that propelled her into her chosen career path. Mohini
had a profound ability to listen without judgement, hearing to understand and to give impartial advice. It
was for this reason that many friends and family members were able to approach her for advice, even
though she was much younger than they, and the younger members of her social circle were also able
to confi de in her without the fear of judgement.
On 25 April 2015 Mo and her long-time school sweetheart, Justin, tied the knot in a beautiful wedding
ceremony that many had the privilege of attending. Justin was the one person that both Rani and Mano
knew would be able to love and look after Mo unconditionally. They were to be married for the next six
years and shared unwavering love for each other and faith in God.
Despite the health challenges, Mohini chose to accept each day as a gift and would try her best to make
the most of them. Mohini passed away on 10 September 2021 and was laid to rest on 12 September. She
has left a massive void in the lives of all who had the pleasure of knowing her. The life lessons, laughs,
tears, love and resilience are what her husband, family and friends will always remember about her.