MDF Magazine Issue 67 April 2022



Autumn Issue 67

April 2022

Muscle Riders 2022

Life at the


of Disability


Eye problems in

different types

of muscular


Investing in



POWERbreathe Better Breathing



for Patients



1-78 cmH 2 O








MD Information

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

» p.10


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

» p.15

» p.20



Regular Features

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

Healthy Living

36 Speech Therapy

38 Eye problems in different types of muscular dystrophies

» p.34

Published by:

Muscular Dystrophy Foundation of SA

Tel: 011 472-9703

Fax: 086 646 9117



Publishing Team:

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:

Dear reader

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


Warm regards

Gerda Brown


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@ 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@ 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

Park, 1709

Banking details: Nedbank, current

account no. 1958502049, branch

code 198765

CAPE BRANCH (Western Cape,

Northern Cape & part of Eastern



Tel: 021 592-7306

Fax: 086 535 1387

Address: 3 Wiener Street,

Goodwood, 7460

Banking details: Nedbank, current

account no. 2011007631, branch

code 101109


Free State, Mpumalanga, Limpopo

& North West)




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


Tel: 012 323-4462

Address: 8 Dr Savage Road,

Prinshof, Pretoria

KZN BRANCH (KZN & part of

Eastern Cape)


Tel: 031 332-0211

Address: Office 7, 24 Somtseu Road,

Durban, 4000

Banking details: Nedbank, current

account no. 1069431362, branch

code 198765

General MD Information

Cape Town

Lee Leith

Tel: 021 794-5737


Duchenne MD


Win van der Berg (Support Group)

Tel: 021 557-1423


Jan Ferreira (Support Group

– Pretoria)

Cell: 084 702 5290

Christine Winslow

Cell: 082 608 4820

Charcot-Marie-Tooth (CMT)

Hettie Woehler

Cell: 079 885 2512


Facioscapulohumeral (FSHD)

Gerda Brown

Tel: 079 594 9191


Friedreich’s Ataxia (FA)

Linda Pryke

Cell no: 084 405 1169

Nemaline Myopathy

Adri Haxton

Tel: 011 802-7985

Spinal Muscular Atrophy (SMA)

Zeta Starograd

Tel: 011 640-1531

Lucie Swanepoel

Tel: 017 683-0287


National News

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

this journey.


National News

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 or 011 472-9703.


Mayo Clinic. 2020. “Support groups: Make connections, get help.”




National News

? ? ?

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.


MDFSA mascot


Please send your entries to Gerda Brown at by 30 June R500.00 for your

design and mascot name!




MDF merchandise

Please email your order and proof of payment to

Masks are

available in

S-M & L-XL:

R60,00 each.


decals: R100,00

T-shirts are

available in

S-M & L-XL:


Please note that the delivery

charge is for your cost.


R60,00 each.

Water bottle

(500 ml) R50.00

Bottle opener



water bottle

(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



MD Information



Active Hands make gripping aids that gently,

yet firmly hold your hand into a gripping shape

enabling you to hold tightly onto objects from

hammers to garden tools; gym equipment to

drumsticks; ski-outriggers to boat tillers; adaptive

bike handles to musical instruments; and many

more. Our gripping aids are designed so that the

user can put them on independently. Our Small

Item gripping aid is great for holding smaller

items such as make-up brushes, personal care

items, cutlery, pens and paintbrushes.

Our gripping aids are ideal for tetraplegic/

quadriplegics, those with Cerebral Palsy, stroke

recovery or any disability that affects hand

function. Some of our products are also suitable

for those with limb difference.


MD Information

Active Hands can give you more freedom – take a

look at our How to section to give you more ideas

on how you can increase your independence using

our gripping products.

Article and further information available at:




MD Information





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

DMD patients".

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.


MD Information

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

DMD patients.

"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


MD Information






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

Clinical Investigation.

“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.


MD Information

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

regenerated myofibers.

These findings are also of interest to patients

with Niemann-Pick disease type A since the preclinical

model for this disease also manifests poor

sarcolemma repair.

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:


MD Information





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

to finish.

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

diagnosis genetically.

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:




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.

Support system

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

being LGBTQ:

• RespectAbility: LGBTQ+ People with Disabilities

• GLAAD: LGBTQ Resource List

• The Trevor Project

• “Special” on Netflix

Article available at:

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

years old.

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:

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

insurance card.

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:

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Or call us on 086 111 4028

Doctor’s Column

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

is independent.

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.




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.

Keep safe!



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

out-of-work actors!

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!


Random gravity


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

me off.

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?










plans to launch a Phase

3 trial of losmapimod, a

potential oral treatment for

facioscapulohumeral muscular

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

48 weeks.

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

and development.

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,”

Dunn added.

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.

Patient-centered assessments

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

REACH trial.”

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.








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

this symptom.

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

mouse's movement.

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

measurable benefit."

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

similar conditions.

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

the work.

Article available at: ases/2020/11/201130131451.htm

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Healthy Living



• 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

and articulation.

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



Healthy Living

• 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,

and fingerspelling;

• 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

reduce hypernasality.

Article available at:



Healthy Living





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

both eyes.

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


Myotonic dystrophy

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

double vision.

Congenital muscular dystrophies

Congenital muscular dystrophies are a group

of conditions that lead to muscle weakness

and wasting from birth or shortly thereafter.


Healthy Living

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:


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

10 children.

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

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


In Memoriam

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.

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