Summer Issue 57
R25.00 incl. VAT
for MD children
one step at a time...
GET INTO THE GREEN SCENE
COMPETITION ENDS 31 DECEMBER 2018
05 MDF notice board
06 National news
10 MD information
06 Muscular dystrophy awareness
07 Facts about Duchenne & Becker muscular dystrophy
10 The use of antioxidants in FSHD
16 Music therapy for MD children
18 Telkom 947 Kiddies Ride
20 Natarshja Meyer – an inspiration for others
21 Hloni’s dream came true – visiting Disneyland
22 Living with congenital myopathy – Lavinia Petersen
24 Beating Duchenne one step at a time …
25 Dissecting Wobbles
27 By talking and knowing about CMT, people can
understand Ella better
28 While it’s not a cure, it’s buying us valuable time
29 Family fund cure for George on living with Becker
36 The View from Down Here
37 Doctor’s corner
38 Sandra’s thoughts on …
30 New insights into muscle fibre loss in Duchenne
31 CMT gene therapy trial to start in 2019
31 Update on DMD gene therapy trial
31 Pain-free and more effective: improving how we monitor
C O N T E N T S
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
Managing Editor: Pieter Joubert
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Cover photo of Lemique Consulting CC courtesy of Sarie
(Deadline: 8 March 2019)
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.
Summer is finally in full swing! Whether it’s long sunny days or showers and
thunderstorms that you prefer, a typical South African summer has it covered.
For most of us there’s the expectation that summer will be filled with long, hot,
lazy days and sunshine from dawn to dusk. We anticipate getting the braai
out and spending time outdoors with loved ones. Overall, summer is just a
wonderful season with so much to offer.
In this summer issue you can read about how the Foundation got involved
with raising awareness for International Muscular Dystrophy Awareness month
during September. This campaign was launched this year and we hope that
it will grow in years to come. Hopefully it will be extended to the African
continent next year.
You can also read how small children care for those less fortunate than themselves
by raising money and riding the 947 Kiddies Ride. Well done to our little Muscle Riders!
You are absolute STARS!
As always there are also various inspiring stories of some our members and their journeys with muscular
dystrophy. As well as interesting news on events, MD information and research articles.
Our thoughts and prayers go out to Pieter Joubert and his family. Pieter suddenly fell ill and had to be
hospitalised. We eagerly await his return to the office in 2019.
Thank you to everyone who supported us this year. Without you the Foundation will not be able to provide
services to our very special members.
Wishing you a magical and blissful holiday. Have a merry Christmas and a prosperous new year!
Until next year!
We would like to Thank You
Thank you to everyone who supported us during the
past year and helped to make a difference in the lives
of people who have muscular dystrophy.
From all of us at Muscular Dystrophy Foundation of South Africa
Wishing you a wonderful festive season,
and may the New Year bring you joy,
peace and happiness.
Subscription and contributions to
We publish three issues of MDF Magazine
a year and you can subscribe online
to the magazine or by calling your nearest
If you have any feedback on our publications,
please contact the National Office
by e-mail at email@example.com
or call 011 472-9703.
Get all the latest news on the fight
against muscle-wasting conditions and
the latest research updates. It is our editorial
policy to report on developments
regarding the different types of dystrophy
but we do not thereby endorse any
of the drugs, procedures or treatments
discussed. Please consult with your own
physician about any medical interventions.
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
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
How can you help?
Branches are responsible for doing their
own fundraising to assist members with
specialised equipment. Contact 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
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 firstname.lastname@example.org or call
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.
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
Banking details: Nedbank, current
account no. 2011007631,
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
Banking details: Nedbank, current
account no. 1958323284
branch code 192841
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
KZN BRANCH (KZN & part of
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Banking details: Nedbank, current
account no. 1069431362
branch code 198765
General MD Information
Tel: 021 794-5737
Tel: 011 472-9824
Win van der Berg (Support Group)
Tel: 021 557-1423
Maxine Strydom (Support Group)
Tel: 031 762-1592
Cell: 083 290 6695
Jan Ferreira (Support Group – Pretoria)
Cell: 084 702 5290
Tel: 012 667-6806
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Cell: 079 885 2512
Tel: 012 664-3651
Cell: 083 66 66 270
Friedreich Ataxia (FA)
Cell no: 084 405 1169
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Tel: 011 640-1531
Tel: 017 683-0287
Because public knowledge of muscular dystrophy is
limited, attitudes towards people with muscular
dystrophy are sometimes based on ignorance and can cause
humiliation. Some might even believe that people with
muscular dystrophy could do more if they just tried harder, or
that they pretend to be unable to do something because they
just don’t want to, and that if they were just to exercise more
they would become stronger. When people are properly
informed about muscular dystrophy, their attitudes and
behaviour towards affected people become more reasonable
and sensitive; thus, discussing disability increases
understanding and tolerance. This helps to minimise the
psychological stress that muscular dystrophy sufferers
might otherwise experience when interacting with others.
September was International Muscular Dystrophy Awareness
Month, which is an important time for all persons affected
by muscular dystrophy. In order to celebrate this special
month, the National Office launched a new online awareness
programme called “Get into the green scene” – green being
the colour of the muscular dystrophy ribbon.
The objectives of the programme were two-fold. Firstly, all
the MDSA Facebook followers were requested to change
their Facebook and WhatsApp profile pictures to the
“Get into the Green scene” logo. Secondly, our Facebook
followers and members were invited to share photos on our
Facebook wall where they have “gone green”. From the
photos it was clear that everyone had a lot of fun.
Thank you very much to Lemique Consulting, Newcastle
Post Office, West Rand School, the MDF branches and our
members for making this campaign a huge success.
By Emile Smith
My muscles became green
It's quite a colourful scene
I'm planted in the ground
My wheelchair need sound
Winter left me bleak
I'm no more weak
Can you see a blossom?
It's green and I'm awesome
I try my best
Just chilax with the rest
These muscles is bit slow
My wheels on the go
My muscles became green
It's the colour of the winning scene.
Some facts about Duchenne and Becker
What is Duchenne/Becker muscular
Duchenne muscular dystrophy (DMD) is the most common
and serious neuromuscular genetic disorder diagnosed in
childhood. It is a progressive disorder that causes muscles
to become weaker over time until it affects the whole body.
DMD mostly affects boys and reaches across all races and
cultures. Although genetic disorders are usually passed down
from a parent to a child, Duchenne and Becker muscular
dystrophy (BMD) can spontaneously occur even if no one in
the family has had it before.
Becker muscular dystrophy occurs when dystrophin is
manufactured, although not in the normal form or amount.
Because of this, people with Becker are more mildly affected
and have a slower progression than people with Duchenne.
As with Duchenne, Becker can be inherited from a parent
or can be caused by a new or spontaneous mutation in the
dystrophin gene. The symptoms of Becker can begin in
childhood, the teenage years, or even later. PPMD’s
mission and work extends to both Duchenne and Becker (both
considered ‘dystrophinopathies’), but for simplicity we
primarily refer to Duchenne.
DMD is a “gender-linked or “X-linked” disorder. Males are
born with one X-chromosome (from mom) and one Y-chromosome
(from dad). Because males only have one X chromosome,
if the X-chromosome they receive has a gene mutation
that causes Duchenne, the male will be born with Duchenne.
Females are born with two X-chromosomes (one from mom
and one from dad). If females have one X-chromosome that
has a gene mutation for Duchenne, the body will generally
choose to “activate” the other normal X chromosome. If
this happens, the female will be a carrier of Duchenne. This
means that she can pass Duchenne on to her sons (her daughters
can also be carriers) but she herself will have few, if any,
symptoms of Duchenne. If the female’s body, for whatever
reason, chooses to activate the X chromosome with the mutation
for Duchenne, the female will still be a Duchenne carrier,
but will also “manifest” symptoms of Duchenne. She
will then be a “manifesting carrier” of Duchenne.
What causes the symptoms?
Parent Project Muscular Dystrophy writes as follows
Duchenne is caused by mutations in the gene that encodes
for a muscle protein called dystrophin. Dystrophin is in
every single muscle fibre in our bodies. Dystrophin acts as
the glue that holds muscles together and the “shock absorber”
that allows muscles to contract and relax without being
damaged. Without dystrophin, muscles are not able to function
or repair themselves properly. As muscles are used for normal
day-to-day activity, tiny tears are created in the muscle.
Because there is no dystrophin, the muscles can’t repair
themselves by making new muscle, so the damaged muscle
is replaced by fat and scar tissue. As muscle is replaced, the
person with Duchenne loses muscle function and strength.
There are many muscles in the body (skeletal muscles, heart
muscles, breathing muscles, etc.). Because there are so many
muscles in the body, many parts of the body can be affected
by Duchenne. For that reason, people living with Duchenne
need care for many areas of the body.
What are the symptoms of DMD and which
muscles are affected?
The DMD fact sheet of the Muscular Dystrophy Foundation
of South Africa (2000b) provides the following information:
Most affected boys develop the first sign, which is difficulty
in walking, at the age of 1 to 3 years. By approximately 8 to
11 years they become unable to walk. By their late teens to
early twenties the weakness is usually serious enough to put
their lives at risk.
Boys affected by DMD often walk on their toes with their
abdomen pushed forwards and with a waddling gait. This
is due to weakness of pelvic muscles, which normally
extend to the hips in order to retain the upright position when
standing. When these muscles are weak there is a tendency
for the pelvis to tilt forward, and to compensate for this the
affected boy pushes his abdomen forward (called lordosis)
and his shoulders backward. Rising from the floor unassisted
also becomes progressively difficult, which is also due to
weakness of the muscles around the hips. At the same time
as weakness of the hip muscles becomes evident, there is also
weakness of the shoulder muscles so that the affected boy has
increasing difficulty raising his arms.
The confinement to a wheelchair increases the likelihood of
contractures developing as a result of immobility. The sole
of the foot often turns inward. The prolonged sitting in one
position may result in the gradual curvature of the spine to
one side and so compresses the lung on that side. This is referred
to as scoliosis and can result in serious problems with
breathing and chest infection.
The heart is also affected in DMD and this may aggravate
any respiratory problems.
and thighs, while others that are less weak are often enlarged.
The muscles of facial expression, speech and swallowing and
the involuntary muscles (for example those of the bowel and
bladder) are not affected in BMD.
Things to remember when visiting an
The DMD emergency card of the Muscular Dystrophy
Foundation of South Africa (2017b) provides the following
Duchenne muscular dystrophy
• If ambulatory: Ask if internal fixation/surgery rather than
casting may be possible. Surgery may help preserve
• If your child has had a fall or a leg injury and has rapid
onset shortness of breath/difficulty breathing and changes
in alertness (confusion, agitation, disorientation), this is an
emergency; go immediately to the ER and alert staff that
symptoms could be due to fat embolism syndrome (FES).
• Risk: Respiratory failure. Please only give oxygen with
close monitoring of CO2 levels; breathing may need to be
supported (with BiPAP, for example).
• If oxygen levels are low, assisted coughing (with cough
assist machine or Ambu bag) may help.
• Take your equipment (cough assist, BiPAP, etc) with you to
the hospital/emergency room (ER); alert your neuromuscular
team that you are going to ER/hospital.
What are the symptoms of BMD and which
muscles are affected?
The BMD fact sheet of the Muscular Dystrophy Foundation
of South Africa (2000a) provides the following information:
BMD has a mild onset during childhood. Muscle cramps
during exercise are often the only problem at first but a few
affected individuals may also be late in learning to walk.
From early childhood affected boys are unable to run
very fast. During the teens or twenties, muscle weakness
becomes evident causing difficulty in rapid walking, running
and climbing stairs. Later it may be difficult to lift heavy
objects above waist level. Individuals with typical BMD may
become unable to walk in their 40s or 50s, or even later, but
there are also more rapidly progressive variants of BMD in
which the loss of mobility may happen in the 20s or 30s.
Over a period of years some muscles become weak and wasted,
especially certain muscles of the shoulders, upper arms
General recommendations and precautions
• Keep immunisations up to date and get influenza vaccine
• People taking daily, long-term steroids should avoid live
vaccines when possible.
• Always wear seat belts – in the car AND on the wheelchair/
• Avoid inhaled anaesthesia.
• IV anaesthesia is considered to be safe (with close
• People with Duchenne should NOT receive
• Local anaesthetics and nitrous oxide are safe for minor
If vomiting and/or unable to take daily corticosteroids for 24
• Go to a hospital emergency room.
• Request substitute IV corticosteroid until oral medications
are tolerated (6 mg of deflazacort equals 5 mg of prednisone).
• Remind clinicals that high liver enzymes (AST/ALT) are
normal for people with Duchenne MD.
The BMD emergency card of the Muscular Dystrophy
Foundation of South Africa (2017a) provides the following
Becker muscular dystrophy
• Patients with Becker muscular dystrophy can develop
cardiomyopathy. Those with less severe muscle symptoms
are at risk of severe heart involvement. All need regular
• Early ACE-inhibitor and beta-blocker usage slow the
progress of cardiomyopathy.
• Cardiac arrhythmias must be considered for patients with
palpitations and/or dizziness/pre-syncope and investigated
with ECG, 24-hour tapes or similar.
• Chronic respiratory failure in Becker muscular dystrophy
may present without the usual signs of respiratory distress.
Subtle signs include early morning headaches, poor sleep
continuity, fatigue, daytime sleepiness, reduced appetite
and weight loss. Consider underlying respiratory failure in
case of a chest infection.
• If supplemental oxygen is required during a respiratory
crisis, this must be carefully controlled. Healthcare professionals
must be alert to the possibility of acute respiratory
failure with an arterial blood gas assessment of oxygen,
carbon dioxide and bicarbonate concentration. Non-invasive
ventilation, with oxygen entrained, may be required.
• Assisted coughing with chest physiotherapy and breathstacking
techniques with an Ambu bag help to clear lower
airways secretions. This can also be facilitated by a cough
assist device. These interventions should be performed
only by trained and experienced persons.
• Use intravenous general anaesthetics only (avoid suxamethonium).
• Inhaled anaesthetics should not be used.
• Local anaesthetics and nitrous oxide are safe, e.g. for minor
Recommendations and precautions
• Immunisations should be kept up-to-date. Do not use live
vaccines if using corticosteroids.
• Wear a medic alert bracelet.
NOTE: Liver enzymes (AST/ALT) will be high on blood
tests: this is normal in Becker muscular dystrophy and is
attributed to muscle breakdown. This should not prompt liver
investigations unless otherwise indicated.
Muscular Dystrophy Foundation of South Africa. 2017a.
Becker muscular dystrophy. Emergency card.
Muscular Dystrophy Foundation of South Africa. 2017b.
Duchenne muscular dystrophy. Emergency card.
Muscular Dystrophy Foundation of South Africa. 2000a.
Becker muscular dystrophy. Fact sheet, 30 May 2000.
Muscular Dystrophy Foundation of South Africa. 2000b.
Duchenne muscular dystrophy. Fact sheet, 30 May 2000.
Parent Project Muscular Dystrophy. ©2018. What is Duchenne/Becker
muscular dystrophy? www.parentprojectmd.
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The use of antioxidants in FSHD:
What is the scientific rationale and what does
the evidence show?
By Adam Denny, PhD
(Reprinted with the permission of June Kinoshita – FSH Society)
In recent years, scientists around the world have begun to investigate the role of oxidative stress in FSHD. A 2018 study
reported that muscle biopsies from people with FSHD had greater levels of oxidative stress markers when compared to healthy
control muscle (Dias Wilson et al., 2018). In another study, a stem cell-based model indicated that high oxidative stress itself
can lead to increased DUX4 expression (Sasaki-Honda et al., 2018).
These findings indicate that DUX4 can increase oxidative stress, and that oxidative stress itself can increase DUX4
expression, proposing a damaging feedback loop, although this hypothesis needs further investigation.
What is clear in FSHD is the imbalance in reactive species and antioxidant defenses, the two key aspects underpinning
What is oxidative stress?
Oxygen is essential to life, but it’s a double-edged sword. Certain oxygen-containing molecules are chemically very reactive
and, if allowed to run amok in our bodies, can damage DNA, proteins, fats, and other components. To combat these “reactive
species,” biology has evolved molecules called antioxidants that neutralize or repair the damage.
Oxidative stress results when the production of reactive species outpaces the body’s antioxidant defenses. This imbalance can
result in longterm damage. Increases in oxidative stress are beneficial in some circumstances, for example, to destroy cancer
cells, but in disease, oxidative stress can be harmful.
The role of oxidative stress in FSHD
Most studies of FSHD and oxidative stress are conducted in laboratory models, so we have to be cautious about extrapolating
these findings to humans.
As depicted in the figure (above), lab studies have shown that DUX4 expression can induce a multitude of problems within
skeletal muscle. These include impaired formation of muscle cells and increased inflammation, oxidative stress, and cell
Given these lab findings, individuals with FSHD may well wonder if they should take steps to reduce the potential harm from
To combat oxidative stress, we have antioxidants—substances
that can delay, prevent, or remove oxidative damage.
There are two categories of natural antioxidants:
enzymatic and nonenzymatic antioxidants. Enzymatic
antioxidants are produced by our bodies and work
through breaking down and protecting against the
reactive species. Non-enzymatic antioxidants are a much
larger class of antioxidants and work through disrupting
the chemical reactions caused by reactive species.
Some natural non-enzymatic antioxidants are made
within our bodies, such as vitamin A and coenzyme Q10.
When our bodies don’t make sufficient amounts, we can
take them in pill form. Others stem from external sources,
such as vitamins C, E, and K, along with zinc and selenium.
Antioxidants from external sources are important to factor into a person’s diet. While these antioxidants are also available as
pill supplements, many people prefer to obtain these antioxidants from a balanced diet.
While antioxidants have shown promise throughout the
years in laboratory studies, these results have been hard
to replicate in clinical trials.
One clinical trial investigated the effect of combined
dietary supplementation of vitamins C and E, and minerals
zinc and selenium in individuals with FSHD (Passerieux
et al., 2015). The researchers found that supplementation
did not improve the two-minute walk test, but it did
improve muscle function: individuals could contract
their thigh muscles (quadriceps) harder and for longer
than they could before the supplementation.
The participants who received supplementation also saw
decreases in some of their oxidative stress markers and
increases in certain markers of their antioxidant defense
In another small clinical trial, a Dutch group (Van der Kooi et al., 2016) investigated the supplementation of folic acid and
methionine in people with FSHD. Both supplements have antioxidant properties, and folic acid has previously been shown
to boost DNA methylation, but this study found neither folic acid nor methionine had an effect on DNA methylation levels.
Other ways to protect against oxidative stress
Exercise is a very effective way to increase our antioxidant defenses. However, in order to obtain this benefit, one
has to first use exercise to increase levels of oxidative stress. The body then responds by boosting its antioxidant
While the oxidative stress produced in exercise is
vital, the exact effect this may have on FSHD is not fully
understood. The type, intensity, and duration of the
exercise all may influence the outcome.
Bankolé and colleagues (Bankolé et al., 2016) have
shown that a combined strength and interval cycling
exercise-training program significantly improved fitness
and skeletal muscle function without negatively impacting
muscle damage. While this study did not investigate
the antioxidant levels of participants, it does highlight
that certain types of exercise can be beneficial for people
with FSHD regardless of the increases in oxidative stress
induced by exercise.
Research to date has shown some positive results, but important questions remain. First, oxidative stress has a strong link with
FSHD cells in the test tube, but the relevance of oxidative stress in FSHD patients is unknown.
Also, while antioxidant therapies have shown modest benefits, these results came from relatively small clinical trials. We need
to conduct larger trials to understand if antioxidant therapies can protect muscles in people with FSHD.
Editor ’s note: Adam Denny earned his PhD in the Department of Physiology at the University of Otago in New Zealand.
Article available at: https://www.fshsociety.org/2018/10/the-use-of-antioxidants-in-fshd/
Bankolé, L.C., Millet, G.Y., Temesi, J., Bachasson, D., Ravelojaona, M., Wuyam, B., Verges, S., Ponsot, E., Antoine, J.C., Kadi,
F. & Féasson, L. 2016. “Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral
muscular dystrophy: A randomized controlled trial”, Medicine, 95(31): e4497. doi: 10.1097/MD.0000000000004497.
Dias Wilson, V., Thomas, C., Passerieux, E., Hugon, G., Pillard, F., Andrade, A.G., Bommart, S., Pincemail, J., Mercier, J.,
Arbogast, S. & Laoudj-Chenivesse, D. 2018. “Impaired oxygen demand during exercise is related to oxidative stress and
muscle function in FSHD”, JCSM (Journal of Cachexia, Sarcopenia and Muscle) Rapid Communications, 1(1). https://jcsmrapid-communications.info/index.php/jcsm-rc/article/view/29.
Passerieux, E., Hayot, M., Jaussent, A., Carnac, G., Gouzi, F., Pillard, F., Picot, M-C., Böcker, K., Hugon, G., Pincemail, J.,
Defraigne, J.O., Verrips, T., Mercier, J. & Laoudj-Chenivesse, D. 2015. “Effects of vitamin C, vitamin E, zinc gluconate, and
selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with facioscapulohumeral
dystrophy: A double-blind randomized controlled clinical trial”, Free Radical Biology and Medicine, 81: 158-169.
Sasaki-Honda, M., Jonouchi, T., Arai, M., Hotta, A., Mitsuhashi, S., Nishino, I., Matsuda, R. & Sakurai, H. 2018. “A patientderived
iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4”, Human
Molecular Genetics, September 12. DOI: 10.1093/hmg/ddy293.
Van der Kooi, E.L., De Greef, No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with
facioscapulohumeral muscular dystrophy”, Neuromuscular Disorders, 16(11): 766-769. DOI: 10.1016/j.nmd.2006.08.005.
Where the Big Five meet Sylvester the lion
The Karoo National Park is famous for many
wonderful reasons; however, in 2015 the most
famous reason was the grand escape of Sylvester
The story began during the night of 4 June 2015
when a three-year-old lion escaped from the Karoo
National Park, triggering a long and arduous chase
lasting 24 days. This event had the nation watching
and waiting with bated breath and saw the start of a
wild goose chase involving many devoted individuals,
sniffer dogs, helicopters and even a microlight.
By the first week the media had run with the story
and Sylvester was a nationwide sensation, with a
select team of SANParks' trackers and honorary
rangers in hot pursuit of the wanderer. Sylvester
was finally darted on the 24th day of the search,
having travelled approximately 371 km and been
spotted a mere four times. Along the way he had
killed 27 sheep, a kudu and an Nguni cow. Although
Sylvester took his toll on local livestock during his
three-week adventure. it is said that during this time
stock theft in the region dropped to an all-time low!
Before Sylvester’s escape the other male lions in the
Karoo National Park had been making life very difficult
for him, provoking his intention to roam. When
Sylvester, fearing for his life, managed to escape
again from the Park within a matter of months after
his return, SANParks made the decision to move
him to a new home.
And so we leave Karoo National Park and turn our
attention 350 km south east, where lies the Kuzuko
contractual area of Addo Elephant National Park. It
is home to the Big Five and now to one of Africa's
most famous sons, Sylvester the lion.
During the day you can look out over the Karoo
Plains and Zuurberg Mountains, and at night you,
and Sylvester, can look up at a canopy of a million
stars. Perched on top of a hill, Kuzuko is located
in a malaria-free region and provides luxurious
accommodation, fine dining, cheetah encounters,
nature walks, bushman painting exploration and
guided game drives.
Kuzuko has a fully wheelchair accessible
chalet available for disabled visitors, providing
plenty of space, all the required grab rails and a large
roll-in shower. The unit is accessed by a well-lit
paved path from the main lodge building. The lodge
itself has an accessible viewing deck, dining room
and lounge areas with shallow gradient ramps
linking most points.
Although visitors are expected to leave their
vehicles at the park entrance, those using wheelchairs
will be given the opportunity to drive their
personal vehicle to the lodge entrance when
needing to disembark or embark.
The game drive vehicles are not specifically
wheelchair accessible, but the rangers and
staff will do whatever it takes to allow disabled
visitors to enjoy their game drives! We found them
to be extremely willing and helpful and very
considerate when negotiating with the rugged
terrain of the park.
These days Sylvester has settled down and found
the company of a male buddy, Fielies, and together
they have connected with two younger lionesses
who have their own remarkable story to tell of
survival against overwhelming odds – but that is for
another day. Sylvester has found a territory he can
call his own and, together with Fielies, they reign as
the kings of Kuzuko.
Contact number: + 27 (0)42 203 1700
Email address: email@example.com
ACCESSIBLE HOLIDAY ACCOMMODATION
The following establishments offer more wheelchair accessible accommodation which has been used and
evaluated by a member of the MDF. If you have stayed at a venue and found the accommodation to be wheelchair
accessible, please let us know so that we can add it to our database.
Addo Elephant National Park
Cornerway House, Plettenberg Bay
Excelsior Manor Guesthouse, Robertson
FunkyTown, Jeffreys Bay
Gubas de Hoek, Robertson
Mountain Zebra National Park
Rocherpan Nature Reserve
Storms River Mouth
West Coast National Park
Makaranga Garden Lodge, Kloof, Durban
Music therapy for MD children
Music therapy is the use of music and musical elements
by a registered music therapist to promote, maintain,
and restore mental, physical, emotional, and spiritual
health. Music has non-verbal, creative, structural, and
Characteristics and need areas:
• Need of independence
• Feeling of accomplishment
• Opportunities to participate in meaningful activities
• Enjoyable and recreational experiences
• Opportunities for expression
How can music therapy address the need areas for an individual with
• Motor skills: Strengthening of muscles through movement and instrumental play. Music also
provides motivation for movement and for improving the range of motion. Instrumental play and
movement can improve coordination.
• Communication skills are enhanced through the relationship with the therapist or group members.
Turn taking and listening during sessions helps to enhance communication.
• Cognitive skills are activated through composition and song writing.
• Emotional support is given through the opportunity for frustration to be vented verbally and
non-verbally and through verbal processing, song writing and instrumental expression.
• Musical skills are exercised.
• Social interaction takes place in music therapy and meaningful social relationships are built. This
decreases isolation and boosts self-confidence. Music therapy provides space for unconditional
positive regard and can build or restore self-esteem.
The music therapist
After designing realistic goals and target
objectives to address identified needs,
music therapists plan and implement individualised
music therapy treatment programs with
strategies, procedures, and interventions to
develop skills necessary to achieve an
optimum level of success or quality of life for
individual clients, such as those with muscular
dystrophy. Three clinical goals will be set for
each individual or group.
Music therapists document client responses,
conduct ongoing evaluations of progress and
performance, and make recommendations for
future consideration. Music therapists work with team members and families, providing ways to include
successful music therapy techniques that help to enhance the quality of life.
For more information about music therapy in your area, please look at the website of the South African
Music Therapy Association at www.samta.co.za.
Music therapy session at West Rand School
On 31 October, MD learners at West Rand School in Krugersdorp were treated to an amazing music therapy
session lead by Mrs Estine Brown.
At first they seemed apprehensive, unsure of what this lady with a guitar had in store for them. Soon all
was revealed and they were all joined together in laughter, happiness and the pure joy of making music
Afterwards they were treated further to gift bags from MDF Gauteng which contained various tasty treats.
The day was an immense success, and each and every child had a fun-filled experience they would not
Telkom 947 Kiddies Ride 2018
By Dr Sandeepa Rajbaran Singh
Cayden Fourie, Dante Fourie, Ava Rudman, Juanru
Roodt, Heinrich Muller, Beth van Til, Maheya Singh,
Leyha Naicker, Kian Otto, Riley Vermaak, Henrico Verster,
Dyllen du Plooy, Daniël Erasmus and Liam Dykstra
may not have all the answers, but the one thing
they know for sure is that “Improvement begins with I”.
Motivated only by the desire to improve the lives of others,
each of the junior Muscle Riders registered for the
Telkom 94.7 Kiddies Cycle Challenge believing “I can
make a difference”.
Beneath bright blue skies and glorious sunshine, riders
exchanged high-fives and encouraging hugs to slow
the butterflies that fluttered in their tummies. The roar
of excited cyclists, kitted and ready to go, were punctuated
only by repeated safety checks. At the start line
each of the children was already a champion, but that
didn’t stop the zeal with which they furiously sped towards
the finish line. With little beads of perspiration
rolling down flushed rosy cheeks, the kids arrived at the
finish knowing they had made a difference in the lives
of their friends with muscular dystrophy.
The reasons for choosing to ride are not only simple
and true but also motivational enough to challenge each
one of us into action! Riley Vermaak (aged 4), whose
grandpa lost two sons affected by Duchenne muscular
dystrophy many years ago, rode in support of anyone
with this disease. Brothers Dante (3) and Cayden Fourie
(6) rode to help their grandpa raise lots of money
to buy wheelchairs for those who can’t walk. Cousins
Maheya Singh (5) and Leyha Naicker (11) have grown
up appreciating how blessed they are and realise that
they need to help others whenever they can, especially
when helping others feels so good! Grateful for the legs
that Jesus gave him to be able to ride his bike, Juanru
Roodt (5) took part in the race for friends who can’t
walk, and he added that he was raising money to buy
wheelchairs for them.
On the day of the cycle challenge, these brave cyclists
showed their parents and the community that they not
only knew how to count but that they also knew what
counts the most … kindness and generosity!
By Mariska Meyer
Natarshja is far from stopping her efforts to
excel, achieve her goals and dreams, and exceed
expectations. She would like to study tourism, and
her dream is to visit holiday destinations and resorts
to make sure they are wheelchair/disability friendly.
Natarshja is my family’s biggest inspiration, and I
know her future is bright and she will continue to
achieve and excel in whatever she does.
I believe I am the proudest mother as I write this.
Our daughter, Natarshja Meyer, who is writing
matric this year at the best school this side of the
equator, Muriel Brand in Brakpan, is the biggest
inspiration of them all. Our family has been
through some tough, trying times, starting with my
mother and my children’s grandmother passing
away at a young age of 41, my three brothers being
diagnosed with myotonic dystrophy, Natarshja being
diagnosed with Friedrich’s ataxia, and losing my dad to
murder in 2015, just after my husband left his
company to go into business with my father and being
unemployed since. Natarshja never lost hope,
never gave up and always worked hard to achieve
the goals she set for herself.
We are blessed to call this young lady with a
fighting spirit our daughter, who will never give up
on her hopes and dreams and has the brightest
outlook on her future.
Note: Natarshja Meyer and Gert (a friend)
attended Muriel Brand’s matric farewell at
“Four One and Only”, Petit, Benoni.
Natarshja’s hair and make-up were done by
Jaco de Meyer (076 159 7356).
The car was sponsored by GM Panelbeaters
(Wynand van der Walt, 076 499 1584)
I cannot ever remember Natarshja not being
the biggest inspiration and motivator to always
work to reach your goals and to never give up on
your hopes and dreams. In 2016 at age 16/17
Natarshja broke the u/18 javelin record for girls with
disabilities, making me the proudest mother and the
teachers jump for joy. In 2017 Natarshja found grade
11 a bit difficult and challenging, with her health
taking a dip to such an extent that teachers were
concerned that the stress levels of grade 12 might
be just too much for her fragile body and gentle
personality. We decided to give Natarshja the
option to leave school with a honourable grade 11
certificate, which is still a very good achievement
for a young lady with her challenges. Natarshja’s
kind nature turned into the fighting spirit of a lion.
She proclaimed she had not worked so hard over
the years to give up at the finish line! This year
she exceeded everyone’s expectations throughout
the year and attended her matric farewell this past
Hloni’s dream came true visiting
Disneyland in Miami
By Lerato Chiloane
It all started when Lehlohonolo Chiloane was
nominated by an MD social worker as a suitable
candidate to have a wish fulfilled by Reach For A
She was interviewed and had three dream
choices: one was to visit Disneyland, which
she chose. Our exciting journey started on 18
September 2018 at OR Tambo airport, where we
met with Melissa and Darren of Reach For A Dream
for some drinks and itinerary explanation. We were
given a lovely send-off. At 20:00 we boarded the
plane heading for Atlanta. Hloni was very excited
as she was doing an international flight for the first
time. The staff of Delta airline were so friendly and
helpful in catering for Hloni’s needs. The whole
experience was just amazing for Hloni, from the
movies on the plane to the food. On the 19th we
arrived in Atlanta and took a connecting flight to
Florida, where we were greeted by the sight of its
many beautiful beach houses.
last park we visited was Sea World, where we saw
all the wonders of the sea.
How we wished to have stayed for longer to enjoy
the place, the people, and the amazing rides. When
people heard we were from South Africa, they
responded very warmly and asked us lots of
questions about the country. We held our SA flag
high with pride.
The most amazing thing was sharing information
about our Muscular Dystrophy Foundation of South
Africa and hearing about the Muscular Dystrophy
Association that is established over there.
It was a truly amazing experience we were
given, and we are grateful to the MDF social
worker Rudzani and to Reach For A Dream for
making Lehlohonolo Chiloane’s dream come true.
We were welcomed by staff from Give Kids the
World Village and taken by a shuttle vehicle to our
destination, about 45 minutes away. The village
is phenomenal, and once there you never want to
leave. After the Disney itinerary was given to us
and all procedures explained, we rested for the
remainder of the day as we were still jet-lagged.
Next morning, we had breakfast and left for the
Disney World Magic Kingdom. The place was so
beautiful. Hloni enjoyed all the rides as most of
them were wheelchair friendly. We stayed until
closing time, stopping only for lunch, and even then
Hloni didn’t want to leave. On the second day of our
adventure we went to Universal Studios where we
saw many Hollywood characters; the most exciting
part was The Wizarding World of Harry Potter. The
By Lavinia Petersen
someone to help me as my legs were not strong
enough for me to move around on my own. I loved
going to school, learning and meeting new friends.
At the age of 12 years (April 1998) I started walking
on my toes as my ligaments were short and I had to
undergo surgery on my legs. I was out of school for
approximately six weeks. During that period I felt so
helpless. In June of the same year I went to see an
orthopaedic surgeon for my scoliosis. Consequently
a spinal brace was constructed to control my spinal
deformity. I hated every minute of wearing it, but
I had no choice but to do so. I had to wear it to
school, where the children teased me, and I had to
sleep with it on. The only time I could take it off was
when I washed myself. I was in between the Red
Cross Hospital and Medi-Clinic, where I was treated
by three specialists.
I am Lavinia Petersen from Mossel Bay, a 31-yearold
woman who was diagnosed with congenital
myopathy, which is a muscular dystrophy (MD) that
affects the muscles from birth. At the age of 1 year
I started showing signs of MD when I frequently
fell on my forehead. My parents, Ivan and Belinda
Petersen, took me to a paediatrician in George.
The doctor suspected that I had some sort of MD
and he referred me to The Red Cross Children’s
Hospital, where a muscle biopsy confirmed that I had
congenital myopathy. The doctor told my parents
that I would only live until the age of 9 years; what a
shock that must have been for my parents. I had to
visit Red Cross Hospital every year for check-ups.
As time went by I had to go to school. My parents
were told by the teachers to put me in a school
for children with special needs, but my mother
refused and I was allowed to remain at the school
I was at. I had my challenges at school, especially
when climbing steps to attend classes. I always had
When I started attending high school in 1999, my
mother went to the principal to arrange that I have
classes in the same block because I could not walk
far and climb so many steps. One time at school
during break a friend asked me: “Are you not angry
at God for making you go through all these things,
being disabled?” I answered: “No, I’m not because
God has a reason for making me this way and he
has a purpose for me being here.” She said that
she would have been angry at God. There was a
time when I wanted to leave school because I could
not cope with the workload, but God gave me the
strength to go to school each day.
In June 2001, I had another operation on the back
of my neck muscles. The doctor at Medi-Clinic
explained that it would be a long procedure and that
my parents should remain calm when they saw me.
When the nurses pushed me out of the operating
room and into ICU, my mother collapsed when she
saw me because I had a brace on with four screws
in my head. I still have the scars of this operation.
I had a lot of support from my family, teachers and
friends. I could not attend school for six months.
I could not walk alone or wash myself properly or
wear proper clothes. During the night I had to call
my parents to help turn me over on my sides. I got
so tired of being helpless that I cried at times. My
mom had to leave her work during this time to take
care of me.
In 2003 I finished my matric, and between 2003 and
2005 I completed a management assistant course. I
started my first job straight after the exams.
Today I am 31 years old, thanks to God’s grace. I
believe God really has a purpose for me being here
and everything that I went through. He was with
me every step of the way. God blessed me with the
most amazing parents. I can always count on them
to help me. Going through all this since my childhood
was not an easy road to walk, but every hurdle
I crossed made me the person I am today.
I would like to say thank you to my family and
everyone who has played a role in my life.
People should be reminded that even if we are
disabled, we should be treated with the utmost
respect, just as anyone would want to be treated. I
want to inspire others and tell them not to give up
but to believe in themselves.
Convaid Rodeo 12 Inch special needs
stroller for sale
Tilt in space
Adjustable hardware for left & right lateral support
Firm left & right lateral supports
Planer seat cushion - anti-thrust,
3 Point positioning belt
Fully adjustable foot plate to suit child's length
Removeable & fully adjustable sun canopy
Removable rear wheels
Folds up, can fit in a car boot
Excellent condition. This is really a fantastic stroller for special needs children.
Rated for up to 35kg body weight. Reason for sale: my son has outgrown it. Price:
New would be +- R60000.00
Contact: Francois on 0828893595
Thank you, DStv for airing our advertisements about
We are most grateful for your support.
one step at
By Albi Viljoen
We would like to introduce you to Jaco George
Viljoen. Jaco is an 8-year-old boy who was born on
the 12th of April 2010 at the Sunward Park Hospital
At the age of 7, with the world at his feet, Jaco dreamt
of becoming a policeman, but his world and dreams
were shattered on the 6th of November 2017 when,
after a lot of testing, Jaco was diagnosed with
Duchenne muscular dystrophy.
Being the determined child that he is, Jaco decided
that this was merely an obstacle in his life and not
the end of it. His parents have done intensive
research and Jaco is receiving various alternative
treatments, which include biokinetics twice a week
and hydrotherapy once a week. Jaco’s diet has also
been changed to include only healthy eating with the
exclusion of sugar and starch.
Jaco is a firm believer in the story of David and
Goliath and will tell you that he is David and DMD
is Goliath and that with God on his side he will also
defeat the enemy. With that thought, the NPO “Walk
with Jaco” was registered to do various awareness
and fundraising activities to support research in the
treatment of DMD and to fund Jaco’s treatment. The
Facebook page “Walk with Jaco” has his day-to-day
stories and what is currently happening in this little
warrior’s life. Please like his page and attend the
various fundraisers were possible.
Contact details for
“Walk with Jaco” are albi@walkwithjaco.
co.za and Albi at 060 540 1437.
In 2010 I was a complete and utter mess, from a psychological point of
view. Yes, a muscle disease is a physical thing, but it’s also very much
a battle of the mind. It presents psychological, philosophical and often
spiritual obstacles that must be negotiated up here between our ears.
For many years people encouraged me to write my story down,
simply to share with others and maybe to encourage people in a similar
position to me. But the truth is I was too young and too full of
rubbish, too emotionally ‘crippled’ to put down anything of substance.
But, eventually, after more than fifteen years of dealing with FA
(Friedreich's ataxia) I started, little by little.
That was eight years ago.
By Andrew Marshall
Once I started I found that writing my thoughts down without
judgement – simply vomiting my raw emotions onto my keyboard – was
incredibly and unexpectedly cathartic. Now, I am nowhere close to
considering myself a ‘real’ writer, thanks to a combination of some pretty
delicious dyslexia, instinctive procrastination/laziness operating at Olympic levels and super dodgy keyboard
skills (which I suspect applies to a lot of you guys, too). But, after meeting my editor, Andrew Miller, and having
him help me reshape the mess I had already created, guiding me in putting down more things he thought the
reader would want to read, I finally had something. (Not only is Andrew an award-winning novelist, the author
of multiple other books and someone who works as a full-time writer in both the business and literary worlds,
he is also the ‘lucky’ beneficiary of spinal muscular atrophy type 2, a type of muscular dystrophy. He combined
his writing expertise and his experience with his own disobedient body to add to my perspective, and he has
helped me beyond comprehension.)
The result, after eight long years of effort, is Dissecting Wobbles. A book that takes you through my childhood
and that feeling of always being ‘different’, scrawny, clumsy. Then my Mom’s search for answers (and the
eternal question: why isn’t Andrew like other children?). And, of course, the big bad diagnosis, followed by my
weird, wild, rebellious teens.
To be honest, some of it was really difficult to write down. The struggle with not being like everybody else
is a lifelong battle, while girls and relationships (lack thereof!) have also been massive obstacles, as were
occasional tangles with depression, alcohol and weed. It’s not easy to talk to the world about any of these
things, or about moving into ‘adulthood’ and trying to find a place in society. But then the position I dreaded all
though my life, close to total incapacitation, hasn’t been a breeze either. So, as hard as it’s been to be honest,
there’s also been freedom involved in the process. Telling my story has given me a new way to relate to, and
share with, other people.
Of course, Dissecting Wobbles will also tell you about the wonderful and incredibly important people in my life,
and some of the awesome things I’ve been lucky enough to experience, including swimming with dolphins,
treetop ziplining, river rafting and skydiving. The skydive was organised by the MDF as a fundraising event,
and I got a bunch of people to sponsor my plummet to earth at terminal velocity. Raising cash to help people
in the same boat as I am felt phenomenal!
Because I live an exceptionally privileged life and have had opportunities many of my boatmates only dream
about, once overheads for the book have been covered 50% of sales will go to the MDF. The rest will be
invested in an idea that’s been incubating for a while, so watch this space!
Please have a look at my website (www.dissectingwobbles.co.za), and read the synopsis and samples. If you
like what you see you can get it at any decent book shop. The tech savvy can also use loot.com or takealot.
com, and a digital version is available on Amazon.
Or if you want, email me directly on firstname.lastname@example.org and I’ll sort you out…
Tony Caruso is taking on
RideLondon for the second time
Tony Caruso, 33 from Royston, Hertfordshire, will
be taking on the Prudential RideLondon-Surrey 100
for the second time this July in aid of Muscular
“I absolutely loved RideLondon last time, there is
such a buzz about the event, and after a year out I’m
ready to take on the challenge again for Sophie.”
Tony’s niece and goddaughter, Sophie, was born
with the very rare muscle-wasting condition,
Ullrich muscular dystrophy. There are less than 300
children who have been diagnosed.
“To date, Sophie has undergone 8 different
operations with more in the future. There is
currently no cure for Sophie’s condition but there is
hope. There are plans for a clinical trial of a new
drug and lots of effort is being put in to understand
more about the type of MD that Sophie has. That is
why I’m taking part in RideLondon.”
Tony was one of MDUK’s top fundraisers in 2016,
raising an incredible £1140, more than double the
“I achieved this through the persistence of
chasing people. On Facebook, personal WhatsApp
messages, sending round work emails, getting
Sophie’s story out there. This helped to not only get
donations from people who know Sophie, but also
others who didn’t and wanted to help.”
Tony is about to start a new job and the time off
between has given him time to get some extra
training in and follow people up for sponsorship.
“I think Sophie is actually more excited about me
starting my new job than me! My new job is for
GoHenry, a child’s pocket money card that she has
Tony’s tips for the rest of #TeamOrange taking on
this year’s challenge is to:
“Look out for little towns and villages whilst cycling
through Surrey. The cheers really give you a boost
for another few miles.
“Travel light! I took a backpack full of gels and food,
but didn’t really end up using any of it. There are
plenty of food and water stations along the way to
top up if you need to. Do, however, try and carry as
much water as you can and keep hydrated.”
Article online at: https://www.musculardystrophyuk.
“By talking and knowing about CMT,
people can understand Ella better”
Lucy Brady, whose daughter Ella, six, has Charcot-
Marie-Tooth disease, says that raising awareness of
the condition makes life easier for herself and her
She said: “Ella calls her condition her ‘cheeky feet’,
which gives people a starting point to ask questions.
Because Charcot-Marie-Tooth doesn’t sound like it’s
related to limbs, people sometimes get confused.
They think, ‘What’s wrong with her teeth?’
afraid to ask, ‘Why does your daughter have things
on her legs?’
“Children are the best at addressing it, because they
do ask questions and then you can explain.
“We live in a small town in Cambridgeshire, and
quite a lot of people know Ella. Once I’ve explained
muscular dystrophy to them, quite a few people
have said, ‘Oh, I think that someone in my family
must have had that.’
“The best way to describe it is to say that her nerves
don’t work the way that they should, so the signals
her brain is trying to send to her feet don’t get there.
Because these signals aren’t getting through, she’s
getting muscle loss because they aren’t being used
“The diagnosis was a massive shock for us initially
and we felt a lot of disbelief, but you just have to get
on with it. We’ve always tried to tell her that if there’s
something she wants to do, she should do it. We
encourage her to cycle and use a scooter, and we
go on day trips to lots of different places.
“You get drawn into lots of appointments and treatment
plans. You adapt, but life has changed a lot
for us. We’ve had about eight different appointments
in the last month. Luckily I’m self-employed, which
makes it easier, but it does have quite an impact on
“A lot of people are interested in Ella, but because
she wears splints you tend to get people staring and
not asking questions. She’s oblivious, but as her
mum I notice it. It would be nice if people weren’t
“By talking and knowing about CMT, people can
understand Ella better, and that helps us as well.
“She had surgery in February on both of her feet to
bring them into a better position. She’s a really busy
girl so she doesn’t like being stuck in a wheelchair.
We’re six months on so she’s done really well. She’s
wearing ankle foot orthosis all day and she’s even
got a little bit of control in the muscle of her left foot
which she hasn’t had at all for about three years.
We’re expecting an 18-month time frame to see if it
has corrected more than just the foot position.
“We seem to have got the feet straight, but now
she’s suffering in her hands. We had hoped that
we’d have a lot more time before that happened,
but her fingers are curving and she’s losing a lot
of strength and wearing hand splints at night. But
she doesn’t let it get to her – she just gets on with
Article online at: https://www.musculardystrophyuk.
‘While it’s not a cure, it’s buying us valuable time’
The fight for access to Spinraza
Amy Cameron’s son Zac, three, was diagnosed with
SMA Type 1 in November 2016. He began receiving
Spinraza – the first and only treatment for the
condition – last year, and Amy is now campaigning
for all families affected by the condition to have
access to the drug.
Amy, from Alloa, Clackmannanshire, said: “When
Zac was diagnosed with SMA, my world began to
fall apart. SMA is a cruel condition and the future
for our family looked increasingly bleak. But all this
changed when we heard about Spinraza. Our spirits
were instantly lifted.
While it’s not a cure, it is buying us valuable time
with Zac and enabling him to reach milestones we
never thought would be possible, such as picking up
his cup for a drink and moving his legs. Zac has so
much to offer the world and this is the only treatment
that is giving him the chance at life.
“As parents, my husband and I are determined to
secure the happiest life possible for Zac and his
brother. Life is for living and making memories and
we will face whatever challenges lie ahead together
as a family.”
Article online at: https://www.musculardystrophyuk.org/your-stories/162422/
The Muscular Dystrophy Foundation of SA
would like to thank the National Lotteries
Commission for their support.
‘It’s so important to raise money
for research’ Family fund cure for
George on living with Becker
George Booth, six, from Weston, Stafford, began
getting muscle spasms in his calves aged two. As
time went on, these became more frequent and
painful, spreading to his thighs. When the spasms
started to last for up to an hour, preventing George
from being able to stand or walk, his parents Adam
and Cerys took him to the GP.
The doctor noticed that his calves were large and
his muscles and tendons were tight. After more
tests and consultations, he was referred to a muscle
team at a local hospital. George was diagnosed with
Becker muscular dystrophy following a DNA test, in
His parents and older brother Freddie set up the
family fund, A Cure for George, to raise awareness
and fund research into the condition. Since then,
Adam has cycled a stage of the Tour de France this
summer with five friends. Cerys and Adam’s brother
Freddie, nine, made and sold bookmarks as part of a
summer fete stall with other fundraising games and
Adam’s employers also donated a Champagne bottle
signed by six nations rugby players to the cause.
In total the family fund has raised over £16,000 in
less than 6 months.
Adam, a project manager, said:
“The hard thing about Becker is the uncertainty,
because it affects people in different ways. We don’t
know how quickly it’s going to progress, and how
much it’s going to impact on George.
“At the moment, he’s doing well. He uses a
wheelchair to get to school and if we’re doing
something involving a lot of walking, but he can still
play rugby on a Sunday, just as long as he takes
some breaks when he gets tired.”
“It’s so important to raise money for research. It still
surprises people when we tell them that there’s no
cure for what George has. But between now and
when he gets older, there’s lot of time for things to
change. The scientists with the brains to do it are
there, we just need to make sure they have enough
money to fund the research.”
Article online at: https://www.musculardystrophyuk.
The following four articles are from the website of Muscular Dystrophy UK.
(Published date: 07/09/2018)
Professor Jenny Morgan and her team
at University College London (UCL)
have shown that a type of cell death
called necroptosis has an important
role in Duchenne muscular dystrophy.
The study – published today in Nature
Communications – helps improve our
understanding of muscle fibre loss in
Understanding muscle fibre death
in Duchenne muscular dystrophy
In this project, Professor Jenny
Morgan and her team at University
College, London used a mouse model
to investigate a biological process that
leads to muscle fibre death in Duchenne
This project was co-funded by three
members of the Duchenne Forum –
Muscular Dystrophy UK, Duchenne
Children’s Trust and The Duchenne
Research Fund. The Duchenne Forum
is a group of charities working together
to accelerate progress in the search for
treatments and eventually cures for
Duchenne muscular dystrophy.
What did the research show?
Muscle cells in people with Duchenne
muscular dystrophy undergo an
abnormal type of cell death, which is the
basis of the muscle wasting.
New insights into muscle fibre loss in Duchenne muscular
There are two types of cell death
mechanism: apoptosis and necrosis.
An apoptotic cell digests itself and a
necrotic cell explodes. In Duchenne
muscular dystrophy, muscle fibres die
by necrosis. Necrosis was believed to
be a disorganized process, but it has
been recently discovered that necrotic
cells can be finely organized. This
organized necrosis is called
Professor Morgan, Dr Bencze and
colleagues have investigated the role of
necroptosis in Duchenne. When one of
the proteins of the necroptosis mechanism
was blocked in muscle cells
grown in the lab, the cells were more
resistant to some toxic treatments,
which normally trigger cell death.
The researchers also generated a
dystrophic mouse model that is missing
this protein; this protected cells
from necroptosis. In these mice, muscle
cell death and scarring (fibrosis)
were decreased, and muscle function
was improved. These results demonstrate
that necroptosis is an important
cell mechanism that is involved in
dystrophic muscle damage. Targeting
necroptotic cell death could therefore
be a therapeutic strategy to counteract
muscle loss in people with Duchenne.
The team presented this work at
conferences including the UK
Neuromuscular Translational Research
Conference and the 2017 World
Muscle Society meeting, where they
won a prize. They also published
By Jenny Sharpe
their findings in the scientific journal,
Why is this research important
and what are the next steps?
This work identifies for the first time
necroptosis as a cell death mechanism
in muscle. Although basic research
such as this is a long way from a
treatment, it is important to gain a
greater understanding of how muscles
are damaged in Duchenne muscular
dystrophy. These results show that
the proteins involved in this cell death
pathway do have a role in the symptoms
of Duchenne, but further work is
needed to understand the mechanisms
behind this. If a suitable molecule was
identified to block the cell death mechanism,
it could help to reduce the cell
death of muscle cells and slow down
the development of fibrosis. Such an
approach could be used in combination
with other treatments aiming to restore
dystrophin to the muscle.
How might this research impact
on other neuromuscular conditions?
It is likely that muscle fibres die by this
type of cell death mechanism in other
neuromuscular conditions. This would
need to be investigated in cell and animal
models of these conditions.
Article online at: https://www.musculardystrophyuk.org/grants/understanding-muscle-fibre-death-in-duchennemuscular-dystrophy/
CMT gene therapy trial to start in 2019
By Sofia Nnorom
(Published date: 15/10/2018)
Sarepta Therapeutics has announced that
it will be working with Dr Zarife Sahenk
from Nationwide Children’s Hospital in
the United States to develop a gene therapy
for Charcot-Marie-Tooth disease (CMT).
The therapy – called NT-3 gene therapy –
uses a harmless adeno-associated virus to
carry a gene called neurotrophin-3 (NT-3)
into the body. Neurotrophin-3 is important
for the functioning of Schwann cells,
which are vital for maintaining the health
and survival of our nerves. CMT causes
nerves to become damaged and eventually
die, which leads to muscle weakness and
loss of feeling. Therefore finding potential
treatments to improve nerve growth and
health is vital.
Dr Sahenk has spent many years developing
and testing NT-3 gene therapy. Her
research has shown it can improve nerve
health and function in an animal model of
CMT. In Sarepta’s press release, Dr Sahenk
Gene therapy represents a potential
new pathway for the treatment of CMT
Neuropathy. We look forward to collaborating
with Sarepta, whose dedication to
those impacted by neuromuscular disorders
and to rigorous scientific exploration,
echoes our own at Nationwide Children’s.
A clinical trial to test the NT-3 gene therapy
is planned to start in 2019. Although the trial
will only be recruiting people with CMT
type 1A, the NT-3 gene therapy could potentially
treat other CMT sub-types and
muscle-wasting conditions. Further research
is under way to explore its potential.
Update on DMD gene therapy trial
By Sofia Nnorom
(Published date: 04/10/2018)
Sarepta Therapeutics has released an
update on the four boys dosed in its
ongoing gene therapy trial. The data
was presented by Dr Jerry Mendell,
the trial’s principal investigator, at
the World Muscle Society conference
Building on Sarepta’s previous data,
Dr Mendell shared results on the fourth
boy treated with the gene therapy
Like the other participants, he had a
significant increase in the dystrophin
protein and a reduction in creatine kinase
levels – a marker for muscle damage.
So far, there have been no serious
safety concerns reported for any of the
Dr Mendell also reported that all
four boys have shown improvements
in functional assessments (e.g. stair
climbing, standing up and walking
ability) compared to the start of the
study. Whilst these preliminary results
are very exciting and promising, it
should be cautioned that this study is
very small and has no controls.
Sarepta is now planning to conduct a
larger trial in the US – data from this
trial will be used to seek marketing
approval for the therapy. The company
is mapping ways to expand its clinical
program and will announce an update
once it finalises its plans.
In a press release, Doug Ingram,
Sarepta’s president and chief executive
“The encouraging results that we
previously saw and reinforced in the
fourth patient strengthen our resolve
to rapidly move to a confirming trial
and, assuming successful, to bring
this therapy to the Duchenne community
around the world with a sense of
Article online at: https://www.musculardystrophyuk.org/news/news/updateon-dmd-gene-therapy-trial/
Pain-free and more effective: improving how we monitor SMA
By Andrew Mickel
Monitoring the progression of
muscle-wasting conditions is essential
to ensure they can be managed well.
If you have spinal muscular atrophy
(SMA), you may have experienced
a test called electromyography on a
clinical trial or during diagnosis. It
tracks the loss of motor units, the links
between the muscle and the nervous
system which are gradually lost for
people with SMA. But electromyography
can be both painful and it is limited
in how well it can monitor change.
And with treatments like Spinraza now
being developed, the need for effective
testing to ensure patients get the right
support at the right time has never been
A new technique – discovered by
A new research grant from MDUK will
help develop a technique using MRI
scanners to monitor motor units in a
pain-free and more effective way.
And like so many of science’s best
discoveries, it was found by accident.
Professor Andrew Blamire at
Newcastle University has spent much
of his research career trying to get
scanners to take new measurements.
But even he was surprised at the results
of a recent test.
He said: “A few years ago we were
running tests using a technique that’s
generally used to measure the structure
of the brain. We were looking at
the muscles of those with Duchenne
muscular dystrophy, but when we got
back the scans, we found we had some
“They were described by others we
were working with as ‘annoying artefacts’,
a problem with the data. But we
showed them to some colleagues who
specialise in neurophysiology, and that
was the Eureka moment – they told us
they were motor units.”
The MDUK research grant will fund
Prof Blamire to fully examine how
motor units could be monitored with
MRI, and how it can be translated into a
technology that can be easily deployed
for people with muscle-wasting conditions.
Crucially, the new technique could
also be used as a way to track loss in
clinical trials, helping to see how
treatments work and finding the best
ways to deploy them.
Questions that still need
The new technique – dubbed by the
team as MUMRI, for motor unit
magnetic resonance imaging – holds
a lot of promise. Prof Blamire will
now look at taking the initial idea and
seeing if his team can turn it into something
workable by answering some key
To start with, what precisely did Prof
Blamire see in the scans? Were they
single motor units, or was it several
motor units firing at once?
And how exactly will the team be able
to isolate motor units to test them in a
systematic way that will be helpful for
clinicians? That second question could
involve some new kit being developed
so that individuals being scanned make
precise movements that can be examined
in a concise, systematic way.
Using existing technology to
tackle new problems
While we think of MRI scanners as
really large machines, there are some
scanners designed just for limbs. Prof
Blamire’s team will be looking to see if
a new type of scanner could be set up to
work in a clinic.
Says Prof Blamire: “The sense from
clinicians is that it would be great to
have it as a device in their clinic. It
could be a game changer for the way
we work – they say there’s been no
development in electrophysiological
techniques in the last 50 years.”
If a scanner can be built, it could have
use for any condition involving the loss
of motor nerves, or even the decline of
muscle function in ageing.
Dr Kate Adcock, Director of Research
and Innovation at Muscular Dystrophy
“We are in such an exciting time for
research into SMA. But to really get
the most from emerging treatments, we
need to understand how the condition
progresses and how effectively we can
manage it. This project is so exciting
because it makes use of existing technology
to do just that; it could mean the
end of painful existing techniques and a
new era in effective scanning. We look
forward to seeing the results.”
Article online at: https://www.musculardystrophyuk.org/news/news/painfree-and-more-effective-improvinghow-we-monitor-sma/
Thank you, ITV Networks for raising awareness about muscular dystrophy.
We are most grateful for your support.
Take a deep breath and cough … yes, you can!
“Breathing is the greatest pleasure in life” – Giovanni Papini
By Brenda Morrow & Anri Human
Taking a deep breath, sighing, yawning and coughing are
things healthy people don’t usually have to think about.
However, for people with neuromuscular diseases (NMDs)
it may become more and more difficult to breathe as the disease
progresses. They may also get frequent chest infections,
which could be severe, needing antibiotic therapy and sometimes
even hospital admission and ventilator support.
These breathing difficulties result from weakness of the
breathing muscles and a poor cough, as well as complications
like chest wall deformities which restrict breathing.
People with a weak, ineffective cough cannot properly clear
secretions from the lungs, which puts them at risk of more
recurrent infections and may eventually lead to chronic, permanent
The good news for people with NMD and breathing muscle
weakness is that a number of techniques can be used to help
them take a deep breath and clear secretions from the lungs.
These techniques may be performed at home by oneself or by
a physiotherapist and should be started as soon as the cough
A peak flow meter with a mask attached can be used to measure
the strength of the cough (Figure 1). The person is asked
to take a deep breath (as deep as possible!) and then cough
as hard as possible into the mask. The resulting air flow (the
peak cough flow) is then measured. If the peak cough flow
is under 160l/min it means the cough is not strong enough to
clear secretions from the lungs, and techniques to help cough
effectiveness should be done daily. When the peak cough
flow falls under 270l/min, it is time to start learning techniques
to improve cough effectiveness, because we know
that cough flow drops even further when you have infections
of the upper airways (like a cold).
Figure 1: Peak flow meter with mask attached for measurement
of peak cough flow (strength of cough).
There are different types of airway clearance techniques.
Some aim to move secretions from deep in your lungs to
the larger, central airways so they can be cleared easily from
there. Examples are percussions (when the physiotherapist
or caregiver claps the person’s chest with cupped hands); vibrations
(manually or using mechanical devices); and positioning
to drain secretions. These might be effective in moving
secretions, but without an effective cough none of these
techniques will lead to secretion clearance. Some breathing
exercise have also been developed to help clear secretions
(like deep breathing exercises, active cycle of breathing
technique, positive expiratory pressure (PEP) therapy, etc),
but these are not likely to work where there is severe breathing
muscle weakness, as people with NMD cannot take a
deep breath without assistance. These breathing exercises/
techniques can however be adapted to be done with ventilation
support (e.g. BiPAP), and your physiotherapist should
be able to advise you about this.
Other airway clearance techniques aim to clear secretions
from the large, central airways, and these are essential in
people with NMD and weak cough, usually after mobilising
secretions into the main airways. These are sometimes called
“cough augmentation” or “cough assistance” techniques.
There are different parts to a cough, and all are needed for the
cough to be effective. Firstly, you must be able to take a very
deep breath in, then close the vocal cords (glottis) at the back
of the throat to increase pressure inside the lungs, and then
rapidly force the breath out with an explosive opening of the
vocal cords with a cough. Depending on the type of NMD,
any or all of these components of the cough might be missing
and there are different techniques that can help.
1. Helping the person to take a deep breath (inspiratory support)
can be used to improve their ability to cough and expand
the lungs, similar to when healthy people yawn or
sigh. Techniques include the following:
a. Manual insufflation – Air is actively pushed into the lungs
using a self-inflating bag with either a mask or a mouthpiece;
or insufflation can be done by adjusting the BiPAP
or ventilator settings. The bag should be the right size so
you don’t push too much air into the lungs, which can
cause damage. Your physiotherapist or doctor should be
able to advise on what size bag you should use. These bag/
mask kits are readily available and fairly inexpensive in
b. Breath stacking
i Spontaneous breath stacking: The person takes a breath in
and traps the air (holds their breath), and then takes another
breath, traps the air and so it continues until the lungs are
“full”, after which a cough can be performed independently
or with assistance. This technique is useful because it can
be done independently, without the need for a second person.
An example of this technique (without a cough) is given
ii Manual breath stacking: Breath stacking can also be done
using a self-inflating bag and mask/mouthpiece. The
mouthpiece is placed in the mouth or the mask is placed
over the mouth and nose. Multiple breaths are applied with
the bag and “stacked” onto each other with glottic closure
between each breath or (if glottic closure is a problem), a
one-way valve can prevent air flowing out back into the
bag. Once maximum expansion is reached, the person can
either cough themselves or have a supported cough (with
the assistance of a parent/caregiver). An example of this
technique used by a gentleman with ALS is available at
c. Glossopharyngeal or “frog” breathing: Air is forced or
gulped into the lungs using the mouth and tongue muscles.
This technique has the advantage of being able to
be performed independently. A video of glossopharyngeal
breathing is available at: https://www.youtube.com/
2. Helping to breathe out (improving cough flow):
a. Manually assisted cough (MAC): Cough flow is accelerated
by applying an external pressure on the person’s abdomen
and/or chest wall (Figure 2) during the expiratory
phase of the cough. A second person is needed to perform
pressure to actively and quickly suck air out of the lungs,
thereby simulating a cough. There have been reports that
MIE is effective and safe, but care must be taken to start
with low pressures so as not to damage the lungs, especially
for young children. A demonstration is given at https://
All these cough clearance techniques have some precautions
or contraindications, and some are more widely available in
SA than others, so it is important that an experienced physiotherapist
first assess every person and together decide which
technique would be the most appropriate. Some techniques
can be done independently and others need a second person,
and this must also be taken into account when making a decision
about which technique to use, according to individual
What is happening in South Africa?
(Local is lekker!)
A recent survey revealed that most South African physiotherapists
prefer using MAC for cough assistance in people
with NMD. They still prefer traditional airway clearance
techniques like percussion and vibrations, and very few use
breath stacking, glossopharyngeal breathing or MIE. We are
currently working to improve physiotherapists’ knowledge
and skills in airway clearance for people with NMD through
workshops, educational newsletters and publications.
Inspiratory muscle training (IMT)
Previously (December 2017) we reported that there was an
on-going study in Gauteng and Cape Town to determine the
effect of IMT on lung function, cough effectiveness, lower
limb and upper limb function/coordination as well as quality
of life. In total 23 children between the ages of 8 and 18
years participated, and this study was completed at the end
of October 2018. The preliminary analysis shows that the
participants significantly improved their inspiratory muscle
strength and their ability to cough!
Watch this space for news of the final results of this study!
For further information or any queries, please contact us at
email@example.com (Gauteng), 012 521-4047, or brenda.
firstname.lastname@example.org (Cape Town).
Figure 2: Manually assisted cough demonstration on a
3. Helping with both inspiration and expiration (breathing in
a. Combining one of the inspiratory support techniques with
an MAC is very effective; an example is presented at
b. Mechanical insufflation/exsufflation (MIE) or “CoughAssist”:
This is a fairly expensive machine that pushes air
into the lungs (through a mouthpiece/mask/tracheostomy
tube) and then rapidly switches to a negative (vacuum)
Selected resources and recommended reading:
Chatwin, M., Toussaint, M., Goncalvez, M.R. et al. (2018).
Airway clearance techniques in neuromuscular disorders: A
state of the art review. Respiratory Medicine, 136: 98–110.
Morrow, B.M., Zampoli, M., Van Aswegen, H. & Argent,
A.C. (2013). Mechanical insufflation–exsufflation in people
with neuromuscular disease. The Cochrane Library, Dec 30,
Toussaint, M., Chatwin, M., Gonzalez, J. et al. (2018). 228th
ENMC international workshop: Airway clearance techniques
in neuromuscular disorders, 3–5 March, 2017, Naarden, the
Netherlands. Neuromuscular Disorders, 28: 289–298. https://
Our Voices – Our Life
Experiencing Myotonic Dystrophy around the World
Like you, I live with Myotonic Dystrophy (DM1). I am also the facilitator
of the largest support group for individuals living with the DM in
Switzerland and an active member of several DM Community
Organizations throughout Europe.
As a support group facilitator, I have heard many very personal stories. I have heard people
speak from their hearts about their experiences with this disease and their happiness to
finally meet someone to whom they do not need to explain what our frequent tiredness feels
like. I also feel the need and, often, the joy of people living with DM as they share what they
have learned on their journey with Myotonic Dystrophy.
Each one of these stories is important. Each one of them can help others to find
comfort, understanding, motivation, and advice.
As part of my life’s work, I am trying to connect the international DM community. Yet, in our
multilingual world, this exchange is often difficult because of language barriers. Together
today, you and I can break through the language barrier and help build a truly worldwide DM
Here is how. With the assistance from contributors from the international DM-Community, I
have designed a website at
On this website, we invite you to share your personal story of living with Myotonic Dystrophy.
Your story will be translated into more than ten languages and DM-affected individuals
around the globe can find new inspiration in your experience.
From the submitted stories, an illustrated book will be developed, copies of which we will
provide in three languages to interested DM Community Organizations around the world. The
distribution of this book via the information channels of these organizations will be
coordinated in time with a Project Celebration in Basel, Switzerland. This Project
Celebration will involve all DM Community Organizations and all DM-affected individuals
participating in this project.
Share your story with us! Share it with the whole world and help us to send a wave of
awareness, support, and community to those living with Myotonic Dystrophy.
Erich Maurer & Andreas Herzog, email@example.com
in collaboration with
THE THREE PHASES OF ME
By Hilton Purvis
We often chat with friends about how, over time, one's views
on matters change. Things which used to upset us in our
youth just wash off one’s back today, or vice versa! It got
me thinking about matters which used to "push my buttons"
in years gone by, and those which do so today, and how my
attitudes have evolved over time. I found that I could see
my life in three distinct phases, the "freedom fighting", the
statistics, and the acceptance.
I use the term freedom fighter carefully, because although we
were never actively militant, we were fighting for freedom
in our society in the 1970's and 1980's. Back then there were
no disabled parking bays, no PAUs at airports, no ramps, no
disabled toilets. In short, nothing which would have warranted
sticking the little blue international wheelie man symbol
onto. The mindset of the time was very much that we should
be staying at home or living in institutions, being looked after.
My middle years, the 1990's, became the "statistical" years.
The years of adding up the new facilities which were slowly
becoming available. Adding up how many new disabled
people I saw out and about in town, attending a sports game,
or working in a company. These were the times of the access
committees, the independent living centres, the amakrokokroko,
and the beginnings of employment equity. Doors were
opening, albeit on the periphery, and increasingly disabled
people were visibly living independent lives.
Of late, I have to admit to entering a phase of "acceptance",
but I am not a person who naturally accepts things. I believe
we are well short of where we should be as a disabled community.
My acceptance is therefore that we have not achieved
the level of integration into society which we should have. It
also means that where I should be entering a phase of calm
and tranquillity, the whole rocking chair on the stoep thing,
I am still having my buttons pushed. It also takes something
away from the previous two phases. I'm left wondering
where we went wrong in the freedom fighting, and just what
we were really doing during the statistical period.
I think one of the mistakes we made in the 1990s was in
adopting the belief that if we could show society that
disabled people could live independently it would gain
momentum and build steadily and progressively on the initial
breakthroughs that were being made. We also believed, falsely,
that civil society would do the right thing, see the light,
and increasingly break down the physical barriers which we
face every day (transport, parking, access, etc). Along with
that we thought that there would be greater inclusion for s
disabled individuals in schooling and education, employment
opportunity, etc but this has also fallen far short. We
never really made any inroads into the architectural industry,
which is so important to our infrastructural independence.
Coupled with this is a representational shortcoming in the
development and construction industries and, saddest of all,
in the field of education (schooling, colleges and universities).
Perhaps during the "statistical" period of the 1990s we also
became so preoccupied with notching up little victories that
we lost sight of the greater battle plan. We also allowed ourselves
to become fragmented, with no coordination and with
the individual disability groupings looking after their own
interests. Whilst there is nothing intrinsically wrong with this
concept it does open the door for a loss of momentum and
focus, which is what has happened.
However, I do believe that during this "statistical" period
we fell right into the statistical trap and allowed ourselves to
accept a quota system. We are now expected to accept that
only 10% of hotel rooms might have an accessible bathroom,
or 5% of employees might have a disability. This has come
back to hurt us. If we are to make any further development,
quotas such as these need to be eradicated as soon as possible.
Everything should be accessible. Every single school
should be able to accept disabled learners. Every job should
be available to disabled individuals.
The hope that people would join us in our quest for freedom
voluntarily has not materialised. In the 1990s I firmly believed
that we needed willing participants rather than ones
who had been coerced into meeting our needs. I was mistaken.
These days, in my acceptance phase, I believe that legislation
is the only way we are likely to make any progress.
Unfortunately, in that regard we do not seem to have made
any real headway either, and existing legislation is really just
words on paper, without any real teeth. I have yet to hear
of a building construction being stopped because it did not
provide disabled access.
It seems that society has been distracted from the initial
goals. From an enlightened and promising start in the 1970s
and some strong development in the 1990s, our quest has lost
momentum with the result that the disabled community has
fallen behind in terms of gaining their educational, employment
and financial freedom. At this stage in my life I have to
accept that we have fallen short of our aspirations; the real
problem, however, is that acceptance doesn't sit well with
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 firstname.lastname@example.org.
What are muscular dystrophies?
Muscular dystrophies are a large group of muscle diseases that cause progressive loss of muscle strength and
also loss of muscle bulk. The different conditions vary widely in their age of onset, from infancy to adult life. They vary in their rate of progression, their
severity, which muscles are primarily involved and their genetic inheritance patterns. Both males and females can be affected, although some muscular
dystrophies predominantly affect males. Although muscular dystrophies affect family members in a broadly similar way, there can still be significant
differences between individuals. It is thus important to try to reach an exact diagnosis as it influences prognosis, management and genetic risk.
How does muscular dystrophy present?
People with a muscular dystrophy often report progressive weakness and difficulty with movements or tasks they were previously able to perform.
Fatigue is a common feature. Initially the weakness may appear more severe on one side of the body, although typically both sides are involved. The
weakness may begin in different ways in different individuals. Individuals may report muscle pain as a presenting or accompanying symptom. As some
muscular dystrophies involve the heart muscle, a diagnosis of a cardiomyopathy may be the first indication of a muscular dystrophy.
How are muscular dystrophies diagnosed?
Diagnosis relies primarily on clinical assessment by an experienced doctor, typically a neurologist. The diagnosis may require additional blood tests,
muscle investigations – including electromyography (EMG), or muscle biopsy to narrow down the exact diagnosis. Genetic testing has advanced in
recent years and a specific genetic test or a broad test looking for a genetic fault in a few 100 genes simultaneously may assist in identifying the exact
causative genetic fault and thus the precise diagnosis.
Are all neuro-muscular disorders genetic?
Not all neuro muscular disorders are genetic. It is important to distinguish non-genetic causes from genetic ones, as the management and treatment
may differ dramatically. Any neuro-muscular disease should be fully investigated by a neurologist to ensure that the individual receives the most
Can muscular dystrophy be prevented?
If a muscular dystrophy is known to occur in a family, there are genetic tests available which can predict with high accuracy which other family
members are likely to be affected. This is important as individuals at risk can be identified and managed from as early an age as possible. Although
early management does not prevent disease, it may improve the period of time during which the individual is able to maintain good function. In
addition, if parents know that they are at risk of having a child with a muscular dystrophy, either because of their family history or because they have
had a previous affected child, it is important that they discuss their options with a genetic counsellor. Prenatal testing can identify an affected fetus as
early as 12 weeks of pregnancy. Preimplantation genetic diagnosis is an option whereby parents can test embryos after in vitro fertilisation and only
implant unaffected embryos in the uterus in order to achieve a healthy pregnancy.
What treatment options are currently available?
No single treatment is available for all muscular dystrophies. No cures are currently available either and people with muscular dystrophy should be
aware of unrealistic claims made by companies or individuals. Broad principles do apply in management. It is important that people with muscular
dystrophies try to maintain their strength and mobility as much as possible. It is helpful to work with a biokineticist who can advise on appropriate
exercises. Aggressive exercise is discouraged but aerobic gentle exercise is encouraged within the individual’s capability. Increasingly specific treatments
are becoming available which allow for extended periods of improved functionality. These treatments are specific to the genetic condition and
often to the exact genetic fault or type of genetic fault.
What can I do to help a friend or family member diagnosed with a muscular dystrophy?
People with muscular dystrophies need to be supported through their disorder. It can be very frustrating for someone to lose previous abilities. Friends
and family should try to ensure that they are referred to the appropriate support services to ensure that they maintain optimal function and get the best
possible management. Referrals include medical professionals, allied health professionals, including psychologists and genetic counsellors. Support
groups such as the Muscular Dystrophy Association can assist in directing individuals to appropriate services. They also provide contact with similarly
Sandra’s thoughts on…
Time – the best gift you can give someone
By Sandra Bredell (MSW)
“The greatest gift you can give someone is your time.
Because when you you’re your time, you are giving a
portion of your life that you will never get back” (author
According to Frank Weil (2013), all of us have our own
sense and understanding of “time”. It may reflect a very
good experience we had or the frustration experienced
when waiting on an answer or outcome of a particular
situation. Although we can all associate with these kinds
of experience, no one really knows where the concept
actually comes from. We understand that there is a yesterday,
today and tomorrow and that if time is lost you
can never get it back and therefore time needs to be
spent wisely. This can be seen as one of the principles
of life. But as Mr Miyagi stated in the movie, Karate Kid,
“I think you know the principles. Everyone does. But
99% of all people don’t do what they know” (Foroux,
We also know that time is very important to human beings
and plays a significant role in our lives. We need
to really value and respect time, for as the saying goes,
“time and tide waits for none”. Mother Teresa agreed
by saying, “Yesterday is gone. Tomorrow has not yet
come. We only have today. Let us begin” (Bhalla, 2017).
Volunteering your time to an organisation that renders
a service to the community, to a neighbour, friend, colleague
or family member indicates that these people
are important to you and therefore you want to give
them the gift of time. This gift is a part of your life which
you are giving away. We should give more than we
take. Life is not about taking but all about what we are
giving. “We make a living by what we get; we make a
life by what we give” – Winston Churchill (Santi, 2017).
You will be surprised by the fact that the more you give
to others, the more you will receive. And here I am referring
to time. We should rather think about what we have
to offer than what we want from the world. “The effect
you have on others is the most valuable currency there
is” – Jim Carrey (Foroux, 2016).
But when you give your time to others, you benefit a
great deal yourself. Research has proved that helping
others is a fundamental part of humanity. People are
helping others at soup kitchens, welfare organisations,
children’s homes; and then there are others who assist
the community in case of a fire, natural disasters
and crime. According to a study done by Professor
Michael Norton (Harvard Business School), giving of
your time to others, makes you feel good; and a professor
of psychology at the University of California, Sonja
Lyubomirsky, saw similar results when she asked people
to perform five acts of kindness each week for six
weeks (Marsh & Suttie, 2010). To see a smile and eyes
filled with joy definitely makes it all worth it.
So next time you are wondering about what to give to a
friend or family member, consider the gift of your time.
Offering your time to do something for them or to spend
time with them is the best gift you can give.
Bhalla, S. 2017. “Importance of time…”. My Edu Corner.
Foroux, D. 2016. “7 principles of life that everyone
knows, but only a few follow”. Updated 2017. Huffpost.
Marsh, J. & Suttie, J. 2010. “5 ways giving is good for
you”. Greater Good Magazine. https://greatergood.
Santi, J. 2017. “The secret to happiness is helping others”.
Weil, F.A. 2013. “The meaning of time”. Huffpost. Updated
Family picnic at the Urban Park
On 1st September we hosted our
annual family picnic for affected
members and their loved ones.
We spiced things up this year by
hosting an outdoor treasure hunt.
What fun it was for both children
and adults to explore the park to
hunt down clues and fun goodies.
Thereafter, we all celebrated
awareness month together and
shared a lovely picnic. Many
thanks to everyone who came out
to spend this special day with us,
and to Mrs Gilda van der Merwe
for planning and facilitating the
It is with great sadness that we bade farewell to Mr Basil Lerer on 10 July 2018. Our sincere
condolences to his family. You are in our thoughts. It’s always too soon to say goodbye.
It is with very heavy hearts that we said goodbye to Vuyolwethu Stuurman on 12 June 2018. Our
sincere condolences to his family. We loved to see his gentle smile at our visits to Tembaletu School.
Our deepest condolences to the Grobbelaar family on the passing of their daughter, Chante, on 26 July
2018. Your family is in our thoughts.
Condolences to family and friends. Ed.
Grand West children’s outing
On Wednesday 5 September 2018 our MDF children
from Astra School enjoyed a fun day at our annual Grand
West outing. We kicked off the day with a lovely brunch at
Wimpy. Afterwards, the group got to go bowling and play
arcade games at the Magic Company. What a joy it was to
watch the faces of our MD children enjoying the thrill and
excitement of all the activities on the day. This was once
again a wonderful fun-filled day to remember, and each
child returned home with a lovely goodie bag.
Special thanks to Reach for a Dream for funding the lunch
and for joining us on this special day, and to Mandy and
Lawrence Green for funding the tokens. Also, thank you
to Astra School for arranging for the children to be safely
transported to the venue with staff to assist the children
on the day.
The Cape Branch’s social service team conducted six different awareness
campaigns during the last quarter. Many thanks to the schools, community
centres, NPOs and clinics that hosted us. We greatly appreciate the
opportunities to share information about muscular
dystrophy within our surrounding communities.
Pictures from APD Tygerberg
Awareness Event and van Riebeeck
Strand Primary School.
Annual Golf Day
A sincere thanks to the Goodwood Rotarians and Judy Bird for
assisting in making a huge success of this event, held on
12 October. A word of special thanks to Sanjay Narshi and
Anne-Marie Stoman for their great support at the event.
The National Lottery Commission
We are very grateful for the funding received from the National
Lottery Commission. We were able to purchase three motorised
wheelchairs, two Bi-Pap machines and several cushions and
mattresses, and to refurbish another B-Pap machine .
A picture of 2 of the recipients of the wheelchairs purchased.
Muscular Dystrophy Campaign
SMS and stand a chance to win 1 of 3 Voyageur Schwinn bicycles
The Blue Bottle Group has a team of cyclists that cycled with our logos
on their jerseys at the Telkom 947 Cycle Challenge on 18 November
2018. Additionally, the Blue Bottle Group bought three bicycles and is
running an SMS campaign whereby, at a cost of R30 per SMS, people
can stand a chance to win one of the bicycles. The campaign will run until the end of December 2018.
Please support people affected with muscle-wasting conditions by SMSing your name and email address to
42351 and stand a chance to win 1 of 3 Voyageur Schwinn bicycles valued at R6 500 each.
Muscular Dystrophy Foundation Gauteng wishes to thank the Blue Bottle Group and everyone who supports
New wheelchair for sale
Please contact Lindsay Walsh on cellphone number 0834692877
if you would like to buy this brand new wheelchair for R60 000.
Donation of a vehicle
We would like to thank the Talia family for donating
a Chrysler Voyager with motorised lift to us. The
vehicle is a great help, especially in transporting the
General Manager on a daily basis.
Nazier and Fatima Talia have been very good to
us over many years and we wish to thank them
sincerely for the great donation. We are most grateful
for their support and willingness to help when needed.
Pictured: Robert Scott, Fatima Talia and
Ezibeleni School outing
On 6 September, MD learners from Ezibeleni School
went for an outing to East Rand Mall. They were
treated to lunch at Mugg & Bean, where they had
a choice of folded fillers, toasted sandwiches and
something to drink. They enjoyed the outing very
Ithembelihle School outing
On 26 September, MD learners from Ithembelihle School were taken on an outing to East Rand Mall, where they
were treated to lunch at Panarotti’s. They had monster pizzas and something to drink for 21 people.
Special delivery at
Learners living with muscular dystrophy were
treated with gifts on Wednesday 31 October
The learners are all part of the muscular
dystrophy group which is run by the school
physiotherapist and the school Social worker
at Pretoria School. I, the muscular dystrophy
social worker does group sessions with them
once a month. The learners were very happy
to receive gifts from the Foundation.
Lionel Smook surprised with
CE Power Chair
We could not find parts for my old wheelchair, and
our social worker, Mulanga Kharidzha, told me that
there was a waiting list but they would try their best
to help as soon as funds became available.
On 31 October, staff from the office surprised me and
handed over the wheelchair. I would like to thank the
Foundation and Muscle Riders for assisting me with
a power wheelchair.
Thank you for helping all our members with
(Pictured: Mulanga Kharidzha, Pieter Joubert, Lionel and Rina Smook)
• Annual reports • Golf days
• Conferences • Team building
• Product launches
Call: Dee-Ann 082 412 9650
Our son Matthew Wilson
By Cindy Frantzeskos
We were very privileged to have had a son like a Matthew. I want
to tell you about the remarkable young man he was.
Matthew was born with Duchenne muscular dystrophy, but he
never used his disability as an excuse for anything. He never
even allowed me to park in the disabled parking – gotta love that
one.Everyone who knew Matthew had some special moments
with him. For me there were many along the way. There is a song
that Matthew and I used to sing in the car on the way home when
he was a toddler. “You are my sunshine, my only sunshine. You
make me happy when skies are grey …
Matthew was and always will be my sunshine. He was one of
those rare human beings whom everyone loved. His smile could
light up a room and he had beautiful sparkly eyes. He had a dry
sense of humour, and he loved to joke with his group of close
friends and of course his family. He nicknamed my brother “Victor
DJ skip skip” – for obvious reasons.
I must say he was also fortunate to have cousins whom he was close to and who spent time with him. He was also adventurous
and embraced life despite his illness. He could put able-bodied people to shame. If I look back over the years, to
when he was still able to walk, he would run races and be the last one running but with a huge smile on his face, waving
at us. At the age of 11 years he went into a wheelchair, still living life as only he knew how.
Matthew once won a four-wheeled motorbike in a competition (I was not even aware that he had entered – his Gran had
posted the letter). We spent many weekends at the race track. He would be lifted on to the motorbike, and although he fell
off many times and broke some bones, he was right back on again the next week. He then sold his motorbike and bought
a boat! This was while holidaying in Plettenberg Bay, where he made many friends.
One day Matthew went paintball shooting, and when he came back he said it was one of his best days ever – never mind
all the bruises!
He also went white water rafting in Parys with Kyle, one of his closest friends, and the organisers were super impressed
at his determination. They would sometimes camp in our back yard in a tent, but this was 5-star all the way – with TV,
PlayStation, everything in that tent.
Matthew loved to play 30 Seconds and of course his PlayStation. He also loved music, all types of genre – from Robbie
Williams and Queen to Eminem and Ed Sheeran – and he would sing along.
Matthew loved to watch movies and he always chose ones that had a life lesson – except for Harold and Kumar. He loved
Superman and obviously Wonder Woman, but Batman not so much (a rich man with gadgets).
Matthew also loved the Manchester United soccer team. Where this comes from I have no idea. He was fortunate to go to
Old Trafford and watch them play. When they came to South Africa he met the entire team, shaking hands with everyone,
from Sir Alex Ferguson to Wayne Rooney and John O Shea. In fact he made us wait from 9 in the morning until 10 that
night at the Palazzo Hotel to get all their signatures.
He also loved fast cars and was given opportunities to drive in many – Maserati, Lambhorghini, Ferrari, McLaren, Audi R8.
He also raced around Kyalami and met Kerry McGregor and Baby Jake, among others.
He loved going out and would “organise” tickets to Prime Circle and Black Eyed Peas. I remember a long road trip to Sun
City with a bus full of family and friends. His last outing would have been to Comic Con – he had booked those tickets
months in advance, but life had other plans for him when, on 15 September, he left us to go on his next journey ….
In his last few days Matthew decided to stay home in bed. - I don’t know how he found the courage to say to the doctor, “I
don’t want to be on anything mechanical”. It broke our hearts, but as he said, he had had a good life.
Your wings were ready but our Hearts were not. You are our hero and we will never ever forget you, Matthew!
It is always too soon to say goodbye! Our sincere condolences. Ed.
A huge thank you
Muscular Dystrophy Foundation KZN Branch are most grateful
for the support and wish to express our sincere gratitude to all
our donors for their sponsorship and donations, as well as to
all our members who have been a tremendous support to KZN
Your generosity is greatly appreciated by the executive committee,
staff and volunteers of the MDF KZN Branch.
Casual Day 2018
The Muscular Dystrophy Foundation KZN Branch sold 2 793 stickers
and would like to sincerely thank the following volunteers, schools and
companies that assisted us in our Casual Day sticker sales:
Mercedes-Benz, Riverhorse Valley; Reutech Communication management
and staff; Cathy Khoon Khoon and family; Nedbank Kingsmead
Phase 2; Mrs Bhanjee and family; SA Homeloans, La Lucia; Effingham
Primary School staff and pupils; Effingham Secondary School staff and
pupils; U & G Fabrics, Overport, Durban; Parmalat; St Raphaels School
staff and pupils, Montclair; Mason Lincoln Special School staff and pupils;
Mobility Solutions; Briardene, Durban North; New Frontier Tours,
Westville; Kandice Govender and family; Netcare, Kingsway; Weziwe
Magoso; 45th Engen, Sherwood; Namitha Chabilal from Inkosi Albert
Luthuli Central Hospital and her team; Neil and Duane Goldstone.
Thank you once again for your support and assistance in the sale of stickers. We look forward to your assistance,
support and contribution again next year!
Annalie Harris is selling this Motorised Shopping Scooter with trailer, battery charger and user manual. Price is R25 000, however
Annalie is open for negotiation. For more information, contact her at 084 370 5477.