MDF Magazine Issue 53 August 2017

Spring Issue 53
August 2017
R25.00 incl. VAT
Johannesburg to CapeTown Cycle Tour
Jordan Clements lifelong
dream of being a doctor.
Super Cars for Super
Kids.
A special day for a
special boy.

For independent living

DF
Magazine
05 MDF notice board
06 National news
07 MD information
11 Health News
MD INFORMATION
07 Charcot-Marie–Tooth disease
09 Limb girdle MD
11 Emergency alert cards
Events
16 Johannesburg to Cape Town Cycle Tour
18 Super cars for super kids
19 A special day for a special boy
People
20 Inspirational student defied muscular dystrophy dream
of being a doctor
21 Molly, my life-changing dog
22 Getting it right – White Hart Lane
23 ‘She wins all the races’ – a tragicomedy with biscuits
24 My assistance dog, Dalton
25 My story – Marinus Mans
Regular Features
29 Doctor’s Corner
30 Sandra’s Thoughts on …
Research
26 Sarepta-Genethon partnership strengthens prospects
of UNITE-DMD
27 Congenital myotonic dystrophy drug receives Fast
Track designation
28 Improving energy production could protect motor
neurons from SMA
28 Resolaris improved muscle strength in FSHD trial
C O N T E N T S
Published by:
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
E-mail: national@mdsa.org.za
Website: www.mdsa.org.za
Publishing Team:
Managing Editor: Pieter Joubert
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Printer: Qualimark Printing
Cover photo of cycle tour courtesy of Farrell Kurensky
Future Issues:
December 2017
(Deadline: 27 October 2017)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profit organisation that supports
people affected by muscular dystrophy and
neuromuscular disorders and that endeavours to
improve the quality of life of its members.

From The
Having a child or family member diagnosed with muscular dystrophy
can be most devastating when you are told. As the condition
worsens you will find more challenges and difficult decisions to face
about your life. All of this can weigh heavy on your mental health.
There is not always someone you can talk to about your psychological
support, and it is difficult to find the right person to talk to. You
might be embarrassed but it is worth talking to someone who can
help. The condition affects not only you but the whole family, your
marriage, other children, parents and friends. You think you can get
through it yourself, which you cannot. Find the right person who can
support and help you with your mental health.
Invest in mental health matters; make sure you feel understood and
not alone so that you can live your life to the fullest. Psychological
support will stop you from going into dark places and keep you focused. Once you have talked to the right person
who can help, you and your family will realise that support is essential to improve emotional well-being.
In this issue you can read personal stories and as usual MD information and research articles, as well as
emergency alert card information for emergency health care professionals on the vital and specific issues that
affect children and adults with these conditions. Please share your positive story of what it is like to live with
a muscle-wasting condition.
Spend time with people who care and want to be friends with you for the right reasons.
Regards
Pieter Joubert
4

Subscription and contributions to
the magazine
We publish three issues of MDF Magazine
a year and you can subscribe online
to the magazine or by calling your nearest
branch.
If you have any feedback on our publications,
please contact the National Office
by email at national@mdsa.org.za
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
and clarity.
MDF SA database
If you know people affected by muscular
dystrophy or neuromuscular disorders
who are not members, please
ask them to contact us so that we can
register them on our database. If we do
not have your current e-mail and postal
address, please contact your branch so
that we can update your details on our
database.
How can you help?
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
dystrophy.
Fundraising
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 National Office by email at
national@mdsa.org.za or call 011 472-
9703.
MDF ::
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
Cape)
E-mail: cape@mdsa.org.za
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
7460
Banking details: Nedbank, current
account no. 2011007631
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
E-mail: gauteng@mdsa.org.za
Website: www.mdfgauteng.org
Website: www.muscleriders.co.za
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
1709
Banking details: Nedbank, current
account no. 1958323284
branch code 192841
Pretoria Office
E-mail: swpta@mdsa.org.za
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
Pretoria
KZN BRANCH (KZN & part of
Eastern Cape)
E-mail: kzn@mdsa.org.za
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Durban, 4000
Banking details: Nedbank, current
account no. 1069431362
branch code 198765
General MD Information
Cape Town
Lee Leith
Tel: 021 794-5737
E-mail: leeleith@mweb.co.za
Gauteng
Pieter Joubert
Tel: 011 472-9824
E-mail: gauteng@mdsa.org.za
General Support Group Gauteng
East Rand
Zigi Kerstholt
Cell: 082 499 9384
E-mail: z.kerstholt@gmail.com
Duchenne MD
Cape
Win van der Berg (Support Group)
Tel: 021 557-1423
Penny Cato
Tel: 021 671-8702
KZN
Maxine Strydom (Support Group)
Tel: 031 762-1592
Cell: 083 290 6695
Gauteng
Jan Ferreira (Support Group – Pretoria)
Tel: 012 998-0251
Estelle Fichardt
Tel: 012 667-6806
Christine Winslow
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Hettie Woehler
Cell: 084 581 0566
E-mail: hettie@leefvoluit.co.za
Facioscapulohumeral (FSHD)
Francois Honiball
Tel: 012 664-3651
Barry Snow
Cell: 083 66 66 270
E-mail: barry.snow@worleyparsons.
com
Friedreich Ataxia (FA)
Linda Pryke
Cell no: 084 405 1169
Nemaline Myopathy
Adri Haxton
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Zeta Starograd
Tel: 011 640-1531
Lucie Swanepoel
Tel: 017 683-0287
Spinal Muscular Atrophy (Adult
SMA)
Justus Scheffer
Tel: 012 331-3061
E-mail: justusscheffer@gmail.com
5

National
Muscular Dystrophy Emergency Cards
By Gerda Brown
The Muscular Dystrophy Foundation of South Africa has developed emergency cards for specific types of muscular dystrophy.
These cards will allow people with muscular dystrophy and their families to easily inform non-specialist emergency
health care professionals of vital and specific medical issues affecting persons with these conditions.
The emergency cards are shaped to fit easily inside a wallet or purse, and it is recommended that they always be carried on
your person.
Cards are available for the following conditions:
• Spinal muscular atrophy type I
• Spinal muscular atrophy type II
• Spinal muscular atrophy type III
• Myotonic dystrophy types I and II
• Limb-girdle muscular dystrophy
• Facioscapulohumeral muscular dystrophy
• Congenital muscular dystrophy
• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Charcot-Marie-Tooth disease
You will find your specific card enclosed in the MDF Magazine. If you did not receive your card, your specific type of muscular
dystrophy was not clear. Please contact the National Office at 011 472-9703 or gmnational@mdsa.org.za to request
the appropriate card.
Interviews on Radio
Sonder Grense (RSG)
By Gerda Brown
Muscular dystrophy is a physically destructive disease. However,
various assistive devices, support aids, surgery, physiotherapy,
etc can assist in overcoming challenges with regard
to mobility. It is the psychological and emotional responses
to the disability that are often left unaddressed. Disability
affects everyone differently but also the same. I’m sure most
of you have felt anxious about the future – “how long will I
still walk?”; unsettled about visiting unknown places – “will
it be accessible?”; had an off day and asked “why me”?; felt
totally alone and isolated because there was no-one to identify
with; felt frustrated and angry at having to rely on other
people; and didn’t feel as confident in social situations.
As if all these internal feelings aren’t enough, they are often
confirmed by the behaviour of the public. 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 MD, their attitudes
and behaviour towards affected people become more
reasonable and sensitive; thus, discussing muscular dystrophy
increases understanding and tolerance.
6
This helps to minimise the psychological stress that sufferers
might otherwise experience when interacting with others.
One of the roles of the Muscular Dystrophy Foundation
of South Africa is to create public awareness about disability
and muscular dystrophy specifically. Gerda Brown
and Suretha Erasmus were invited for interviews by Radio
Sonder Grense on 18 and 23 May 2017. The focus of the first
interview was to raise awareness about muscular dystrophy
in general and the second to introduce the Foundation. As a
result of these talks two second-hand electric wheelchairs
were donated and Gerda was invited to also do an awareness
talk at another not-for-profit organisation.
A big thank you to Sue Pyler and Ettienne Ludick from RSG
for inviting us to be part of their show.

National Institute of Neurological Disorders
and Stroke
https://www.ninds.nih.gov/Disorders/Patient-
Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet
MD
Charcot-Marie-Tooth Disease
Pain can range from mild to severe, and some people may
need to rely on foot or leg braces or other orthopedic devices
to maintain mobility. Although in rare cases, individuals may
have respiratory muscle weakness, CMT is not considered
a fatal disease and people with most forms of CMT have a
normal life expectancy.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) is one of the most common
inherited neurological disorders. The disease is named
for the three physicians who first identified it in 1886 – Jean-
Martin Charcot and Pierre Marie in Paris, France, and
Howard Henry Tooth in Cambridge, England. CMT, also
known as hereditary motor and sensory neuropathy (HMSN)
or peroneal muscular atrophy, comprises a group of disorders
that affect peripheral nerves. The peripheral nerves lie
outside the brain and spinal cord and supply the muscles and
sensory organs in the limbs. Disorders that affect the peripheral
nerves are called peripheral neuropathies.
What are the symptoms of Charcot-Marie-
Tooth disease?
The neuropathy of CMT affects
both motor and sensory
nerves. (Motor nerves cause
muscles to contract and control
voluntary muscle activity such
as speaking, walking, breathing,
and swallowing.) A typical
feature includes weakness of
the foot and lower leg muscles,
which may result in foot drop
and a high-stepped gait with
frequent tripping or falls. Foot
deformities, such as high arches
and hammertoes (a condition
in which the middle joint
of a toe bends upwards) are
also characteristic due to weakness
of the small muscles in
the feet. In addition, the lower
legs may take on an "inverted
champagne bottle" appearance
due to the loss of muscle bulk.
Later in the disease, weakness
and muscle atrophy may occur
in the hands, resulting in difficulty
with carrying out fine
motor skills (the coordination of small movements usually in
the fingers, hands, wrists, feet, and tongue).
Onset of symptoms is most often in adolescence or early
adulthood, but some individuals develop symptoms in midadulthood.
The severity of symptoms varies greatly among
individuals and even among family members with the
disease. Progression of symptoms is gradual.
What causes Charcot-Marie-Tooth disease?
A nerve cell communicates information to distant targets by
sending electrical signals down a long, thin part of the cell
called the axon. In order to increase the speed at which these
electrical signals travel, the axon is insulated by myelin,
which is produced by another type of cell called the Schwann
cell. Myelin twists around the axon like a jelly-roll cake and
prevents the loss of electrical signals. Without an intact axon
and myelin sheath, peripheral nerve cells are unable to activate
target muscles or relay sensory information from the
limbs back to the brain.
CMT is caused by mutations in genes that produce proteins
involved in the structure and function of either the peripheral
nerve axon or the myelin sheath. Although different proteins
are abnormal in different forms of CMT disease, all of the
mutations affect the normal function of the peripheral nerves.
Consequently, these nerves slowly degenerate and lose the
ability to communicate with their distant targets. The degeneration
of motor nerves results in muscle weakness and atrophy
in the extremities (arms, legs, hands, or feet), and in
some cases the degeneration of sensory nerves results in a
reduced ability to feel heat, cold, and pain.
The gene mutations in CMT disease are usually inherited.
Each of us normally possesses two copies of every gene, one
inherited from each parent. Some forms of CMT are inherited
in an autosomal dominant fashion, which means that only
one copy of the abnormal gene is needed to cause the disease.
Other forms of CMT are inherited in an autosomal recessive
fashion, which means that both copies of the abnormal gene
must be present to cause the disease. Still other forms of
CMT are inherited in an X-linked fashion, which means that
the abnormal gene is located on the X chromosome. The X
and Y chromosomes determine an individual's sex. Individuals
with two X chromosomes are female and individuals with
one X and one Y chromosome are male.
In rare cases the gene mutation causing CMT disease is a
new mutation which occurs spontaneously in the individual's
genetic material and has not been passed down through the
family.
What are the types of Charcot-Marie-Tooth
disease?
There are many forms of CMT disease, including CMT1,
CMT2, CMT3, CMT4, and CMTX. CMT1, caused by abnormalities
in the myelin sheath, has three main types.
CMT1A is an autosomal dominant disease that results from
7

MD
a duplication of the gene on chromosome 17 that carries the
instructions for producing the peripheral myelin protein-22
(PMP-22). The PMP-22 protein is a critical component of
the myelin sheath. Overexpression of this gene causes the
structure and function of the myelin sheath to be abnormal.
Patients experience weakness and atrophy of the muscles of
the lower legs beginning in adolescence; later they experience
hand weakness and sensory loss. Interestingly, a different
neuropathy distinct from CMT1A called hereditary
neuropathy with predisposition to pressure palsy (HNPP) is
caused by a deletion of one of the PMP-22 genes. In this case,
abnormally low levels of the PMP-22 gene result in episodic,
recurrent demyelinating neuropathy. CMT1B is an autosomal
dominant disease caused by mutations in the gene that
carries the instructions for manufacturing the myelin protein
zero (P0), which is another critical component of the myelin
sheath. Most of these mutations are point mutations, meaning
a mistake occurs in only one letter of the DNA genetic
code. To date, scientists have identified more than 120 different
point mutations in the P0 gene. As a result of abnormalities
in P0, CMT1B produces symptoms similar to those
found in CMT1A. The less common CMT1C, CMT1D, and
CMT1E, which also have symptoms similar to those found in
CMT1A, are caused by mutations in the LITAF, EGR2, and
NEFL genes, respectively.
CMT2 results from abnormalities in the axon of the peripheral
nerve cell rather than the myelin sheath. It is less common
than CMT1. CMT2A, the most common axonal form
of CMT, is caused by mutations in Mitofusin 2, a protein associated
with mitochondrial fusion. CMT2A has also been
linked to mutations in the gene that codes for the kinesin
family member 1B-beta protein, but this has not been replicated
in other cases. Kinesins are proteins that act as motors
to help power the transport of materials along the cell. Other
less common forms of CMT2 have been recently identified
and are associated with various genes: CMT2B (associated
with RAB7), CMT2D (GARS), CMT2E (NEFL), CMT2H
(HSP27), and CMT2l (HSP22).
CMT3 or Dejerine-Sottas disease is a severe demyelinating
neuropathy that begins in infancy. Infants have severe muscle
atrophy, weakness, and sensory problems. This rare disorder
can be caused by a specific point mutation in the P0 gene or a
point mutation in the PMP-22 gene.
CMT4 comprises several different subtypes of autosomal recessive
demyelinating motor and sensory neuropathies. Each
neuropathy subtype is caused by a different genetic mutation,
may affect a particular ethnic population, and produces
distinct physiologic or clinical characteristics. Individuals
with CMT4 generally develop symptoms of leg weakness in
childhood and by adolescence they may not be able to walk.
Several genes have been identified as causing CMT4, including
GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2
(CMT4B2), SH3TC2 (CMT4C), NDG1 (CMT4D), EGR2
(CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4
(CMT4J).
CMTX is caused by a point mutation in the connexin-32 gene
on the X chromosome. The connexin-32 protein is expressed
in Schwann cells – cells that wrap around nerve axons, making
up a single segment of the myelin sheath. This protein
may be involved in Schwann cell communication with the
axon. Males who inherit one mutated gene from their mothers
show moderate to severe symptoms of the disease beginning
in late childhood or adolescence (the Y chromosome
that males inherit from their fathers does not have the connexin-32
gene). Females who inherit one mutated gene from
one parent and one normal gene from the other parent may
develop mild symptoms in adolescence or later or may not
develop symptoms of the disease at all.
How is Charcot-Marie-Tooth disease
diagnosed?
Diagnosis of CMT begins with a standard medical history,
family history, and neurological examination. Individuals
will be asked about the nature and duration of their symptoms
and whether other family members have the disease.
During the neurological examination a physician will look
for evidence of muscle weakness in the individual's arms,
legs, hands, and feet, decreased muscle bulk, reduced tendon
reflexes, and sensory loss. Doctors look for evidence of foot
deformities, such as high arches, hammertoes, inverted heel,
or flat feet. Other orthopedic problems, such as mild scoliosis
or hip dysplasia, may also be present. A specific sign that may
be found in people with CMT1 is nerve enlargement that may
be felt or even seen through the skin. These enlarged nerves,
called hypertrophic nerves, are caused by abnormally thickened
myelin sheaths.
If CMT is suspected, the physician may order electrodiagnostic
tests. This testing consists of two parts: nerve conduction
studies and electromyography (EMG). During nerve conduction
studies, electrodes are placed on the skin over a peripheral
motor or sensory nerve. These electrodes produce a small
electric shock that may cause mild discomfort. This electrical
impulse stimulates sensory and motor nerves and provides
quantifiable information that the doctor can use to arrive at a
diagnosis. EMG involves inserting a needle electrode through
the skin to measure the bioelectrical activity of muscles. Specific
abnormalities in the readings signify axon degeneration.
EMG may be useful in further characterizing the distribution
and severity of peripheral nerve involvement.
Genetic testing is available for some types of CMT and results
are usually enough to confirm a diagnosis. In addition,
genetic counseling is available to assist individuals in understanding
their condition and plan for the future.
If all the diagnostic work-up in inconclusive or genetic testing
comes back negative, a neurologist may perform a nerve
biopsy to confirm the diagnosis. A nerve biopsy involves removing
a small piece of peripheral nerve through an incision
in the skin. This is most often done by removing a piece of
the nerve that runs down the calf of the leg. The nerve is then
examined under a microscope.
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MD
Individuals with CMT1 typically show signs of abnormal
myelination. Specifically, "onion bulb" formations may be
seen which represent axons surrounded by layers of demyelinating
and remyelinating Schwann cells. Individuals with
CMT1 usually show signs of axon degeneration. Recently,
skin biopsy has been used to study unmyelinated and myelinated
nerve fibers in a minimally invasive way, but their
clinical use in CMT has not yet been established.
How is Charcot-Marie-Tooth disease treated?
There is no cure for CMT, but physical therapy, occupational
therapy, braces and other orthopedic devices, and even orthopedic
surgery can help individuals cope with the disabling
symptoms of the disease. In addition, pain-killing drugs can
be prescribed for individuals who have severe pain.
Physical and occupational therapy, the preferred treatment
for CMT, involves muscle strength training, muscle and ligament
stretching, stamina training, and moderate aerobic exercise.
Most therapists recommend a specialized treatment
program designed with the approval of the person's physician
to fit individual abilities and needs. Therapists also suggest
entering into a treatment program early; muscle strengthening
may delay or reduce muscle atrophy, so strength training
is most useful if it begins before nerve degeneration and
muscle weakness progress to the point of disability.
Stretching may prevent or reduce joint deformities that result
from uneven muscle pull on bones. Exercises to help build
stamina or increase endurance will help prevent the fatigue
that results from performing everyday activities that require
strength and mobility. Moderate aerobic activity can help
to maintain cardiovascular fitness and overall health. Most
therapists recommend low-impact or no-impact exercises,
such as biking or swimming, rather than activities such as
walking or jogging, which may put stress on fragile muscles
and joints.
Many CMT patients require ankle braces and other orthopedic
devices to maintain everyday mobility and prevent
injury. Ankle braces can help prevent ankle sprains by providing
support and stability during activities such as walking
or climbing stairs. High-top shoes or boots can also provide
support for weak ankles. Thumb splints can help with hand
weakness and loss of fine motor skills. Assistive devices
should be used before disability sets in because the devices
may prevent muscle strain and reduce muscle weakening.
Some individuals with CMT may decide to have orthopedic
surgery to reverse foot and joint deformities.
What research is being done?
The NINDS supports research on CMT and other peripheral
neuropathies in an effort to learn how to better treat, prevent,
and even cure these disorders. Ongoing research includes efforts
to identify more of the mutant genes and proteins that
cause the various disease subtypes, efforts to discover the
mechanisms of nerve degeneration and muscle atrophy with
the hope of developing interventions to stop or slow down
these debilitating processes, and efforts to find therapies to
reverse nerve degeneration and muscle atrophy.
One promising area of research involves gene therapy experiments.
Research with cell cultures and animal models has
shown that it is possible to deliver genes to Schwann cells
and muscle. Another area of research involves the use of trophic
factors or nerve growth factors, such as the hormone
androgen, to prevent nerve degeneration. Vitamin C has been
studied in CMT1A and the results of a multicentric trial are
due soon. Curcumin, a component of curry, is currently being
studied as a treatment strategy in an animal model of
CMT1B.
Limb-Girdle Muscular Dystrophy (LGMD)
Muscular Dystrophy Association, America
www.mda.org/disease/limb-girdle-musculardystrophy
What is limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy (LGMD) isn’t really one
disease. It’s a group of disorders affecting voluntary muscles,
mainly those around the hips and shoulders. The shoulder
girdle is the bony structure that surrounds the shoulder area,
and the pelvic girdle is the bony structure surrounding the
hips. Collectively, these are called the limb girdles, and it is
the muscles connected to the limb girdles that are the most
affected in LGMD.
The term proximal is also used to describe the muscles that
are most affected in LGMD. The proximal muscles are those
closest to the center of the body; distal muscles are farther
away from the center (for example, in the hands and feet).
The distal muscles are affected late in LGMD, if at all.
As of late 2012, there are more
than 20 different subtypes of
LGMD, and this is a complex
and constantly evolving area
of research.
What are the symptoms
of LGMD?
LGMD, like other muscular
dystrophies, is primarily a disorder
of voluntary muscles.
These are the muscles you
use to move the limbs, neck,
trunk and other parts of the
body that are under voluntary
control. Over time, muscle
weakness and atrophy can
lead to limited mobility and
an inability to raise the arms
above the shoulders.
9

MD
The involuntary muscles, except for the heart (which is a special
type of involuntary muscle), aren’t affected in LGMD.
Digestion, bowel, bladder and sexual function remain normal.
The brain, intellect and senses also are unaffected in
LGMD. Cardiopulmonary complications sometimes occur in
later stages of the disease.
What causes LGMD?
LGMD is caused by a mutation in any of at least 15 different
genes that affect proteins necessary for muscle function.
Some types are autosomal dominant, meaning LGMD is inherited
from one parent. Other types are autosomal recessive
and occur when a faulty gene is inherited from each parent.
What is the progression of LGMD?
At this time, progression in each type of LGMD can’t be
predicted with certainty, although knowing the underlying
genetic mutation can be helpful. Some forms of the disorder
progress to loss of walking ability within a few years and
cause serious disability, while others progress very slowly
over many years and cause minimal disability.
LGMD can begin in childhood, adolescence, young adulthood
or even later. Both genders are affected equally.
When limb-girdle muscular dystrophy begins in childhood,
some physicians say, the progression is usually faster and the
disease more disabling. When the disorder begins in adolescence
or adulthood, they say, it’s generally not as severe and
progresses more slowly.
What is the status of research on LGMD?
MDA-supported scientists are pursuing several exciting
strategies in muscular dystrophy research that have implications
for LGMD. These strategies include gene therapy, exon
skipping, stop codon-read through and myostatin blocking.
Subtypes of LGMD
Here is a list of LGMD subtypes. Type 1 LGMDs are dominantly
inherited, requiring only one mutation for symptoms
to result. Type 2 LGMDs are recessively inherited, requiring
two mutations – one from each parent – for symptoms to
appear. Sometimes, LGMDs are referred to by their names,
not their numbers, and some types have not been assigned
numbers.
Some LGMD subtype names:
1. Bethlem myopathy (collagen 6 mutation; dominant)
2. Calpainopathy (calpain mutations; recessive; LGMD2A)
3. Desmin myopathy (desmin mutation; dominant; a form
of myofibrillar myopathy; LGMD1E)
4. Dysferlinopathy (dysferlin mutations; recessive;
LGMD2B)
5. Myofibrillar myopathy (mutations in desmin, alpha-B
crystallin, myotilin, ZASP, filamin C, BAG3 or SEPN1
genes; all dominant except desmin type, which can be
dominant or recessive)
6. Sarcoglycanopathies (sarcoglycan mutation; recessive;
LGMD2C, LGMD2D, LGMD2E, LGMD2F)
7. ZASP-related myopathy (ZASP mutation; dominant;
a form of myofibrillar myopathy)
Dominant LGMD subtype numbers:
1. LGMD1A (myotilin mutation)
2. LGMD1B (lamin A/C mutation)
3. LGMD1C (caveolin 3 mutation)
4. LGMD1D (DNAJB6 mutation)
5. LGMD1E, also called desmin myopathy, a type of
myofibrillar myopathy (desmin mutation)
6. LGMD1F (chromosome 7 mutation)
7. LGMD1G (chromosome 4 mutation)
8. LGMD1H (chromosome 3 mutation)
Recessive LGMD subtype numbers:
1. LGMD2A (calpain mutations)
2. LGMD2B (dysferlin mutations)
3. LGMD2C, also called SCARMD1 (gamma sarcoglycan
mutations)
4. LGMD2D, also called SCARMD2 (alpha sarcoglycan
mutations)
5. LGMD2E (beta sarcoglycan mutations)
6. LGMD2F (delta sarcoglycan mutations)
7. LGMD2G (telethonin mutations)
8. LGMD2H (TRIM32 mutations)
9. LGMD2I (FKRP mutations)
10. LGMD2J (titin mutations)
11. LGMD2K (POMT1 mutations)
12. LGMD2L (ANO5 mutations)
13. LGMD2M (fukutin mutations)
14. LGMD2N (POMT2 mutations)
15. LGMD2O (POMGnT1 mutations)
16. LGMD2Q (plectin mutations)
Thank you, e-TV for airing our advertisements
about muscular dystrophy.
We are most grateful for your support.
10

EMERGENCY ALERT CARDS
Muscular Dystrophy UK
Muscular Dystrophy UK has created condition-specific alert cards for different muscle-wasting conditions.
These new cards mean that people living with muscle-wasting conditions and their families will have the security of knowing
they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults with
these conditions.
Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that a nonspecialist
clinician would need to know during a time of worsening health. To make sure the cards are effective, they cover a
wide range of possible symptoms and situations. The card also includes important contact information on a person’s specialist
neuromuscular and respiratory teams, which will ensure that expert advice will be much easier to access.
The following alert card information on the various muscle-wasting conditions is reprinted with the permission of Muscular
Dystrophy UK.
Charcot-Marie-Tooth disease (CMT)
CMT is a progressive, inherited condition affecting the motor
and sensory peripheral nerves. It affects the nerves controlling
movement of the hands and lower legs, as well as the
muscles of the feet, hands and forearms. Many people with
CMT also experience a loss of sensation in their hands and
feet.
The condition is incurable but the following interventions
can help people to deal with the daily challenges of living
with CMT:
► physiotherapy
► orthotics
► orthopaedic surgery
► occupational therapy
► pain management
► genetic counselling
Respiratory
Rarely, the diaphragm can become affected, leading to breathing
difficulties, especially at night. Sleep apnoea (significant
pauses in breathing or shallow, infrequent breathing during
sleep) is commonly experienced by people with CMT.
Medication and anaesthetic precautions
It is important that medical practitioners are aware of a diagnosis
of CMT when prescribing new medication. Anaesthetics
should not cause a particular problem, providing the
correct protocol for people with neuromuscular conditions is
followed.
Symptoms
Balance is affected owing to loss of sensation in the lower
legs and weakness of the ankle muscles. People with CMT
can find it difficult to stand still or to climb stairs and may
often fall over a lot.
Weak and numb hands cause difficulties with manual tasks,
such as holding a pen, doing up buttons, or opening jars and
bottles.
Pain is a very common. It can be caused by altered loading of
the joints, because of muscle weakness, or neuropathic pain,
owing to damage to the pain nerve endings.
Some people with CMT experience excessive fatigue that
can affect how much they can manage to do, day to day.
The main symptoms, owing to the weakness and sensory
loss, are: weak ankle muscles, changes in the foot shape, foot
drop, and weak wrists, fingers and thumbs.
Weakened muscles in the legs restrict how well and how far
people can walk. Unsteady walking can cause people to appear
drunk.
People with CMT may need to use walking aids (sticks or
walking frames) as the condition progresses. It is very rare
for people with CMT to lose the ability to walk completely,
and some find it useful to occasionally use a wheelchair for
outdoor use.
11

Health
Limb-girdle muscular dystrophies type 1
Limb-girdle muscular dystrophies type 1 (LGMD1) are
a group of muscular dystrophies that predominantly cause
weakness in the shoulder and pelvic girdle and are inherited
in an autosomal dominant pattern. The group is further divided
into subtypes based on the underlying genetic cause, with
a progressive alphabetical letter indicating the chronological
order of gene identification.
LGMD1 patients may need to use walking aids, can have difficulties
climbing stairs and lose the ability to walk. Creatine
kinase (CK) levels can be normal to moderately elevated.
The various subtypes of LGMD1 can differ in terms of condition
onset, progression, condition severity and involvement
of other systems. Prognosis and management, therefore, are
not uniform across the subtypes of LGMD1. Nonetheless,
early identification of complications and risk factors is crucial.
Subtypes of LGMD1
► LGMD1B is caused by mutations in the lamin A/C
gene. The phenotype can vary and can selectively involve
only the muscle or skin or be multi-systemic. LGMD1B
is characterised by predominant proximal weakness in
the lower limbs, contractures and cardiac arrhythmias
and dilated cardiomyopathy with risk of sudden death.
Respiratory insufficiency occurs as muscle weakness
progresses; NIV may be required in more severely
affected patients. CK is moderately elevated.
► LGMD1C is caused by mutations in the caveolin 3
gene and is characterised by an onset usually in the first
decade, a mild-to-moderate proximal muscle weakness;
however distal weakness can also occur. Muscle hypertrophy,
especially enlarged calves, is a common feature
as are cramps and rippling muscle disease. Cardiac and
respiratory function are generally not affected; however,
dilated cardiomyopathy has been rarely reported.
Cardiac
Cardiomyopathy and/or dysrhythmias are very common
in some subtypes of LGMD1, whereas some other forms
don’t have cardiac complications.
Respiratory
► Symptoms of nocturnal hypoventilation may signal the
development of significant respiratory muscle weakness
and need for intervention. Non-invasive ventilation (NIV)
may be required. If supplemental oxygen is required during
a respiratory crisis, this must be carefully controlled
and carbon dioxide levels monitored, especially in the
context of chronic respiratory failure.
► 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.
► Immunisations should be kept up to date, including the
flu and pneumococcal vaccines.
Recommendations and precautions
► Swallowing difficulties are rarely reported in LGMD1
patients; however, if present, these should be assessed by
a SALT (speech and language therapist).
► Bowel function is generally normal in LGMD1 patients;
however some patients can experience constipation.
If this is severe, it may require specialist input to exclude
other causes.
► Liver enzymes (AST/ALT/alkaline phosphatase) may be
mildly raised on blood tests in up to 50 percent of patients.
The clinical setting dictates whether further investigation
is indicated.
► Some subtypes of LGMD1 can have central nervous system
involvement with intellectual disability and/or epilepsy
and, rarely, movement disorders.
Medication and anaesthetic precautions
► It is essential that the anaesthetist is aware of the diagnosis
of LGMD1 to allow appropriate pre-operative assessment
and post-operative monitoring.
► LGMD1 patients may experience increased sensitivity
to sedatives, inhaled anaesthetics and neuromuscular
blockade.
► Local anaesthetics and nitrous oxide are safe (e.g. for
minor dental procedures).
Fractures and falls
► Owing to weakness, contractures and poor balance, patients
with LGMD1 are at high risk of frequent falls.
► If the patient is ambulant before fracture, internal fixation
is preferable to casting as it helps to preserve muscle
and speeds a return to walking.
► Orthotics input is often important, especially for ankle
weakness.
► It is advised to check vitamin D levels and bone mineral
density on a regular basis, especially following a fall or
fracture.
12

Health
Limb-girdle muscular dystrophies type 2
Limb-girdle muscular dystrophies type 2 (LGMD2) are a
group of muscular dystrophies that predominantly cause
weakness in the shoulder and pelvic girdle and are inherited
in an autosomal recessive pattern. The group is further divided
into subtypes based on the underlying genetic cause, with
a progressive alphabetical letter indicating the chronological
order of gene identification.
LGMD2 patients may need to use walking aids, can have difficulties
climbing stairs and lose the ability to walk. Creatine
kinase (CK) levels can be normal to moderately elevated.
The various subtypes of LGMD2 can differ in terms of condition
onset, progression, severity and involvement of other
systems. Prognosis and management, therefore, are not uniform
across the subtypes of LGMD2. Nonetheless, early
identification of complications and risk factors is crucial.
Subtypes of LGMD2
LGMD2A is caused by mutations in the calpain 3 gene
and is characterised by variable condition onset, progressive
proximal weakness and muscle atrophy. Cardiomyopathy has
been reported rarely. Respiratory function may decline over
time but there is rarely severe respiratory impairment.
LGMD2B is caused by mutations in the dysferlin gene and
is characterised by heterogeneous phenotypes ranging from
mild late-onset to severe forms. Cardiac dysfunction has
been reported rarely. Respiratory function may decline over
time but there is rarely severe respiratory impairment.
LGMD2C/D/E/F are caused by mutations in the sarcoglycan
genes (γ, α, β, δ respectively). They are characterised by
onset in childhood with severe disability over time and cardiac
and respiratory involvement can often be severe.
LGMD2I is caused by mutations in the FKRP gene. (Mutations
in the same gene can also cause a form of congenital
muscular dystrophy.) Onset is usually in late childhood and
the phenotype can be mild to severe. Patients can have calf
hypertrophy. Dilated cardiomyopathy and respiratory impairment
are common. Mild intellectual disability has also been
reported in some patients.
LGMD2L is caused by mutations in the anoctamin 5 gene
and is characterised by adult onset with slow progression
over years. Cardiac and respiratory function are usually normal;
however dilated cardiomyopathy has been reported in
some patients.
Cardiac
Cardiomyopathy and/or dysrhythmias are very common in
some subtypes of LGMD2, whereas some don’t have cardiac
complications.
Respiratory
► Symptoms of nocturnal hypoventilation may signal the
development of significant respiratory muscle weakness
and the need for intervention. Non-invasive ventilation
(NIV) may be required. If supplemental oxygen is required
during a respiratory crisis, this must be carefully
controlled and carbon dioxide levels monitored, especially
in the context of chronic respiratory failure.
► 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.
► Immunisations should be kept up to date, including the
flu and pneumococcal vaccines.
Medication and anaesthetic precautions
► It is essential that the anaesthetist is aware of the diagnosis
of LGMD2 to allow appropriate pre-operative assessment
and post-operative monitoring.
► LGMD2 patients may experience increased sensitivity
to sedatives, inhaled anaesthetics and neuromuscular
blockade.
► Local anaesthetics and nitrous oxide are safe (e.g. for
minor dental procedures).
Fractures and falls
► Owing to weakness, contractures and poor balance,
patients with LGMD2 are at high risk of frequent falls.
► If the patient is ambulant before fracture, internal fixation
is preferable to casting as it helps to preserve muscle
and speeds a return to walking.
► Orthotics input is often important, especially for ankle
weakness.
► It is advised to check vitamin D levels and bone mineral
density on a regular basis, especially following a fall
or fracture.
Recommendations and precautions
► Swallowing difficulties are rarely reported in LGMD2
patients; however if present they should be assessed by
a SALT.
► Bowel function is generally normal in LGMD2 patients;
however some patients can experience constipation. If
this is severe, it may require specialist input to exclude
other causes.
► Liver enzymes (AST/ALT/alkaline phosphatase) may be
mildly raised on blood tests in up to 50 percent of patients.
The clinical setting dictates whether further investigation
is indicated.
► Some subtypes of LGMD2 can have central nervous system
involvement with intellectual disability and/or epilepsy
and, rarely, movement disorders.
13

Health
Inclusion body myositis (IBM)
IBM is a late onset, slowly progressive muscle-wasting condition.
It is associated with falls, dysphagia and varying degrees
of respiratory involvement but not cardiac or central
nervous system impairment. The condition does not restrict
lifespan.
IBM is the most common cause of a late onset myopathy
in people over the age of 50, affecting around 1 in 100,000
people in the UK. The mean age of onset is 62 years and it
rarely occurs in people under the age of 40.
A characteristic pattern of very slowly progressive weakness
of grip strength and proximal weakness in the legs occurs
in most. Less frequent initial symptoms include swallowing
difficulties or foot-drop. Right-handed people usually experience
a greater degree of weakness on their left side, and vice
versa.
The cause of IBM is poorly understood but the muscle biopsy
shows features of inflammation, mitochondrial abnormality
and abnormal deposit of various proteins. Creatine kinase
(CK) is moderately elevated or normal. It is not considered a
primarily genetic condition.
Falls and mobility
The most frequently affected muscles are the quadriceps and
forearm muscles. Falls are therefore common particularly on
rough ground or on stairs. It is often impossible to stand up
after a fall without assistance. Walking frames or rollators are
usually more helpful for reducing falls than walking sticks.
While regular exercise is encouraged, targeted strength training
exercises for quadriceps should be avoided.
Stairs or steps are particularly difficult and it may be necessary
to use a chairlift. Chair leg raisers, cushions or rise-recliner
chairs should be used to assist with standing from low
seating. Grip weakness affects writing, dexterity and using
cutlery.
Respiratory impairment
Some impairment of respiratory muscle strength is common
but this rarely requires intervention.
Swallowing difficulties
► About 50 percent of patients experience swallowing difficulties
because of pharyngeal muscle weakness. As a
result of swallowing difficulties, and to avoid choking,
patients may need to modify their diet and to eat slowly.
This is particularly true of solid dry food.
► Dietary supplements or a gastrostomy feeding tube may
be necessary.
► In combination with respiratory weakness, there is an
increased risk of aspiration pneumonia.
► Swallowing difficulties may be temporarily worsened
by intercurrent or systemic illness.
Medication and anaesthetic precautions
► It is essential that the anaesthetist is aware of the diagnosis
of IBM to allow appropriate pre-operative assessment
and post-operative monitoring.
► Local anaesthetics and nitrous oxide are safe (for example,
for minor dental procedures).
► Statins are usually well tolerated but caution should
be exercised at high doses. There is a risk of side-effects
in the muscles, which will exacerbate existing muscle
weakness.
► Immunisations should be kept up to date, including flu
vaccine.
► Immunosuppression does not help the majority of patients
with IBM and should only be given under expert
neuromuscular care.
QASA “EISH” CAMPAIGN 2017
Taking Action when Disability Discrimination Occurs
QASA launches a creative “EISH”* campaign by using the wheelchair Lego man in various environments
identifying problems and issues experienced by persons with physical disabilities.
*Term used in South African English and Afrikaans to express exasperation or disbelief. The word was
first transliterated from the Xhosa language to Afrikaans, and then into South African English
(Urban Dictionary). Also used to express surprise, annoyance, pain, etc (Oxford Living Dictionary).
QASA manages a contact number for members to lodge a complaint, discuss an issue, seek advice and be heard.
0860ROLLING (0860765546) is manned by QASA staff from Monday to Friday 8am to 4pm.
QASA will take note of each and every call which will allow the organisation to interrogate the issue, provide a solution,
have a call to action and respond to the caller.
Visit our website www.qasa.co.za if you want to become a member / learn more.
JUSTICE TRANSPORT ACCESS PARKING EMPLOYMENT

In the White Paper on the Rights of People with Disabilities (2015), Pillar1 refers to removing barriers to access and
participation, of which inaccessible transport is identified as a barrier.
In the UN Convention on the Rights of Persons with Disabilities (ratified by SA in 1997), article 20 on personal mobility
recognises this as an important element of access and states that measures must be taken to ensure that persons
with disabilities enjoy personal mobility with the greatest possible independence in the manner and at the time
of their choice, and at affordable cost.
Access to transport is a human right, and inaccessible transport in South Africa is the biggest barrier facing people
with physical disabilities, especially wheelchair users.
If you have an EISH moment or experience with inaccessible transport, communicate this to QASA, who will
investigate and follow up.
QASA will strive to remove the EISH from the transport system and infrastructure
The White Paper on the Rights of People with Disabilities (WPRPD 2015)- Pillar1 refers to “access to the built
environment” and “universal design and access” by removing barriers in the built environment.
“The new South Africa should be accessible and open to everyone. We must see that we remove all obstacles… only
then will the rights of disabled persons to equal opportunities become a reality” Nelson Mandela (1995)
Article 9 of the UNCPRD (Ratified by SA in 1997) on Accessibility recognises that State parties have legal obligations
to ensure accessibility to persons with disabilities in this vein the development and implementation of National laws
and policies that advance and are tailored to the needs of Persons with Disabilities.
The National Building Regulations and Building Standards: Act No 103 of 1977 (NBRs) as amended 1 October 2008
in “Part S facilities for Persons with Disabilities” give guidance to the minimum requirements in terms of access into
and out of buildings.
Universal Design and Accessible environments are a human right and inaccessible buildings and infrastructure in
South Africa are some of the major barriers facing people with physical disabilities especially wheelchair users.

Events
Johannesburg to Cape Town Cycle Tour
By Farrell Kurensky
Fundraising for Ludick Fouche affected with
Duchenne muscular dystrophy.
Many people have asked me the all-important question
WHY? And my answer remains the same. Those
are just statistics, distance, time, effort, metres
climbed, towns visited and so on but those statistics
mean nothing compared to the story that inspired
all of us from different backgrounds to take on a trip
like this. The answer to why is found in the story of
the Muscular Dystrophy Foundation.
Why?
I believe that giving back to people who are less
fortunate than we are is a selfless act and one that
every person should make an effort to do. I have
been working with the Muscular Dystrophy Foundation
of Gauteng for the past two-and-a-half years to
raise awareness and money in order to help provide
people who have the disease with wheelchairs, financial
support, a caregiver or whatever else they
need in order to have a more comfortable life.
Why did I choose the Muscular Dystrophy
Foundation?
I really wanted to make a difference and when I was
looking at all the charities in South Africa I noticed
that all the money from big sponsors was going to
charities and causes such as CHOC, breast cancer,
cancer, Nelson Mandela Children’s Fund, SPCA and
other large charities. Now of course these are all
really important issues that need money, but I wanted
to find a charity that really needed my help and
where I could help make a huge difference in people’s
lives directly. I also loved the fact that I could
see where my money and the money I raised was
going and how it was making such an important difference
in people’s lives right in front of my eyes.
The first year I worked with them I started a campaign
called “Body Change”, which was a challenge
to everyone who wanted to get involved to grow their
hair and challenge themselves to a physical activity
for an entire year in order to raise awareness. It was
a huge success and we raised a lot of money for the
charity but more importantly we raised vital awareness.
I have carried this on in other forms since then
with great success. I have over the past two years
also cycled the 94.7 for the charity along with countless
others. Ten other cyclists and I did the cycle
from Joburg to Cape Town for the same reason, to
raise as much awareness as possible.
What we did is a great achievement, but what is
greater was being able to donate an electric wheelchair
to a young MD sufferer. This wheelchair will
help him and his family immensely in the months
and years to come, and that for me makes life worth
living.
The trip!
“Wow!” describes pretty much everything that this
trip was.
16

Events
Day 1. JHB to Klerksdorp to an awaiting sunset on
the banks of the Vaal river, a day that saw us do 208
km and my first time ever doing more than 120 km
in one go on a bicycle, so it’s safe to say that it was
an eye-opening experience.
Day 2. Klerksdorp to Christiana, a day that saw us
do 220 km and a new record achieved of two days in
a row of more than 200 km in one go. The highlight
of this day has got to be the team spirit as everyone
was starting to feel the pinch in the legs. The positive
attitude of everyone showed me that anything
is possible if you surround yourself with the right
people.
Day 3. Christiana to Kimberly, a day that saw us
do 120 km and that seemed relatively short after the
two previous long days. Highlights of this day were
firstly the relief of doing only 120 km and secondly
arriving in the diamond city and going to see the Big
Hole.
Day 4. Kimberly to Britztown, a day that saw us do
251 km and 13 hours 58 mins on the bike. There
was no obvious highlight to this day, as you start
to lose your sense of humour pretty quickly after
spending almost 14 hours cycling with 38 degree
heat and 25 km side winds battering you the whole
way. It was a day when I had to dig deeper than I
have ever done before in order to get through it. It
tested me in every possible way, built my character
and made me a stronger person. I will remember it
for the rest of my life.
Day 5. Britztown to Three Sisters, a day that saw
us do 180 km. The highlight of this day was the
most unbelievable sunrise we witnessed while flying
along on the flat roads at 35 km/h. Your relationship
with the road at this point is a love/hate one as the
road never seems to end but gives you comfort that
at least it’s a tar road and not a sand one (haha).
Another highlight of this day was being greeted by
an amazing hotel called Travalia and the beautiful
views it provided of the surrounding mountains and
valleys that lay ahead of us.
Day 6.Three Sisters to Oudtshoorn, a day that saw
us do close to 200 km, and what an unbelievable
show that stretch of road provided us with. We started
to see why our country has got to be one the
most beautiful on this earth. As I rode along at the
front of the group with Jonny Clegg’s Asimbonanga
playing in my headphones, I really started to appreciate
this road and the journey it was taking me on.
Day 7. Oudtshoorn to Barrydale, a day that saw us
do 179 km and tackle our first really big mountain
pass, which stretched 13 km and rose over 1000
metres and was a true highlight of my trip. As hard
as this day was, it showed me that anything is possible
if we truly put our minds to it – not even mountains
can stop the progress you want to make.
Day 8. Barrydale to Hermanus, the last stretch,
which saw us do 140 km. It was a truly unforgettable
day, for when we came around a corner with
only about 20 km to go, we got our first look at the
ocean and realised we had reached the coast. It
brought back so many memories of the past seven
days, and I felt unbelievable calm and relief as well
as huge pride in myself.
Day 9. Literally the LAST DAY, which saw us do 80
km from Hermanus to Gordon’s Bay on a road that
runs along the coast and is battered by seriously
strong winds from every direction. On our arrival in
Gordon’s Bay I believe the whole group felt an unbelievable
sense of achievement but also a little sad
as our epic journey had now come to an end. We
had crossed many provinces, seen every landscape,
formed friendships, appreciated the small things in
life, bowed before mountains, been humbled by the
wind, gained a new respect for the South African
heat, and most importantly done something greater
than we were for someone less fortunate.
This is the story of our epic trip that I will never
forget, and I challenge everyone to go out and do
something for someone else today. It doesn’t have
to be a cycle trip to Cape Town; it can be as small as
sharing this story and making people aware of real
issues in this world. Challenge yourself every day
to be better, and people will surprise you with their
generosity and kindness.
17

Events
Super Cars
for Super Kids
By Robert Scott
As the sun rose on the morning of 21 May 2017, the
smell of fuel and the bellow of roaring engines were
in the air. This was a day that would not soon be
forgotten . . .
The event was Super Cars for Super Kids and would
give three lucky children with MD the opportunity
to go for a ride in cars that most of us could only
dream of! The boys were Tiaan van Staden (aged
11), Tshepo Mahlosi (11) and
Mikaeel Laher (14).
The event was organised by Melrose Motor
Investments and involved a group of inspirational
individuals who brought their luxury supercars out
for the morning to make dreams come true for a few
amazing children by taking them for a drive.
We would like to thank Melrose Motor
Investments, Bradley Ainge, all the drivers
and parents of the children for making the
day a success. That Sunday really was super,
owing to Super Cars for Super Kids!
18

Events
A special day for a special boy
By Pieter Joubert
A group of cyclists departed on 1 March and arrived in Cape Town on 9 March. These men and women
pushed themselves to generate awareness and funds in order to assist Ludick Fouche, 8 years of age and
affected with Duchenne muscular dystrophy, with a motorised wheelchair. We followed them on Whatsapp
throughout their journey and applaud them for what they are doing for people with muscular dystrophy.
On 1 July we had a get-together at our premises and presented each cyclist with a certificate of appreciation.
Angelos Frantzeskos, team leader of the group, handed over a motorised wheelchair to Ludick Fouche.
It was overwhelming to see the expression on Ludick’s face. Ludick gave a thank-you card to the Muscle
Riders that he had made himself. You are our heroes, thank you for caring, we appreciate your support.
Ludick will also be taking part in the Telkom 94.7
Cycle Challenge this year and pulled in a brand
new sports wheelchair donated by a family who
wish to remain anonymous. They heard about
Jason Winslow, aged 10 and also affected with
Duchenne muscular dystrophy, who took part in
the cycle challenge last year, and they decided
to sponsor another sports wheelchair to MDF
Gauteng to allow more children the chance to
participate too. Wheelchairs on the Run manufactured
the sports wheelchair, as they did with
Jason's Lamborghini sports wheelchair.
Jason did the hand-over of the sports wheelchair
to Muscular Dystrophy Foundation Gauteng.
Jason is looking forward to riding with Ludick in
the Telkom 94.7 Cycle Challenge in November
and to generating awareness of muscular dystrophy.
Pictured: Jason Winslow,
Sally & Chris Booysen
19

People
How inspirational student Jordan Clements
defied muscular dystrophy to realise his
lifelong dream of being a doctor
By Rebecca Black
Belfast Telegraph, July 4 2017
Medical graduate Jordan Clements
has completed one of the toughest
degrees at Queen's despite suffering
from muscular dystrophy – all
inspired by a fierce determination to
give something back for the care he
has received.
The 24-year-old has been in a
wheelchair since he was 15, a difficult
transition from being a child
who loved to swim and play cricket.
His earlier memories are of wanting
to be a doctor, just like his father
Barry, and he said the challenge of
his illness made him even more determined
to realise this dream.
Yesterday Jordan graduated after
six years of study.
When he was just nine years old he
was drawing pictures of himself in a
white coat. He was diagnosed with
muscular dystrophy the same year.
By the age of 15 he was forced to
accept he needed a chair to get
around.
However, he said the additional
challenges simply drove him to work
harder.
Jordan was head boy at Wallace
High School and went on to achieve
straight A*s in his exams to win a
place at Queen's to study medicine.
"It's in my DNA, there has never
been anything else," he revealed.
Jordan said he and his siblings
would have been around hospitals
at an early stage and seeing his father
in action was "a massive inspiration".
"But actually being in and out of the
hospital as a patient myself from a
young age, seeing it from that perspective,
watching how the doctors
interacted with myself, is something
that really hit home with me," he
said.
"I want to give what I can to do the
very same. I have benefited from it,
it has made a massive difference to
me and if I can muster up enough
strength to give something back, to
emulate that, then I'll be happy."
Jordan said he was too young as
a boy to realise what his diagnosis
meant initially.
"I just remember going to see the
doctor one day and him trying to
explain how it was going to be, and
that I was going to be a bit weaker,"
he said.
"To be honest, I thought: 'Oh, a
bit weaker, I'm sure I can manage
that'.
"As a child you don't really see the
true picture. As a nine-year-old I just
remember sitting in the consultation
room smiling and thinking about
getting an ice cream afterwards.
"But as the years went on the walking
became more difficult, I was
leaning further back, when it got to
about fourth year I was leaning so
far back and putting myself under so
much physical stress that my heart
rate was through the roof. That's
when I went into the chair.
"It would have been second year to
fourth year in school, the biggest
hit. When you are at that time, puberty,
there is a lot going through
your head, a lot of school pressure,
social pressure - what will my
friends think, will people look at me,
is it giving up?
"I was very stubborn and resilient.
But my family, my mentors at school
and friends, said: 'Look Jordan, it
doesn't mean we will look at you any
differently'. That would have been
my biggest hurdle to overcome –
being looked at as being something
else to who I was before. It was that
social stigma and people pitying
more than respecting me.
"But I couldn't have asked for anything
better than that network of
support I had, or that transition
never would have happened."
Jordan said that as tough as things
were, it pushed him to follow his
dreams against the odds.
"The harder it got, the more drive I
hit back with. That is my logic, you
may find things get you down but it's
really how you get back up and keep
moving is how I see it," he said.
"It has almost inspired me more,
the more restricted and physically
suffocating it is, the more you fight
back and your dreams get bigger.
I would regard myself as a bit of a
dreamer."
Jordan will now have a few weeks
off until August before he starts the
first of two years as a junior doctor
at Belfast City Hospital.
"Following that, you decide whether
you want to specialise. For me, it
will be between radiology or cancer
care. I can't wait to start."
Barry is currently a surgeon in
Belfast.
He paid tribute to his son's determination
as well as some of those who
have supported him, particularly
Jordan's mother Kerry, his physician
John McConville and his disability
officer at Queen's, Drew Gilliland.
"It's been a significant achievement
for Jordan, but he has always rallied
in the face of adversity; I can't think
of anyone else who would have
managed this," he said.
Article online at: http://www.belfasttelegraph.co.uk/news/education/
graduations/how-inspirational-student-jordan-clements-defied-muscular-dystrophy-to-realise-hislifelong-dream-of-being-a-doctor-35891822.html

Molly, my
life-changing dog
People
By Lucy Watts
Lucy Watts MBE, 23, has an undiagnosed
muscle-wasting condition
and Ehlers-Danlos Syndrome. In
her blog, she talks about training
her pet dog Molly to become her official
assistance dog.
On the 6 September 2016, my
Cocker Spaniel Molly passed her
Level Three assessment and became
my accredited Assistance
Dog. Molly is somewhat of an unconventional
assistance dog, in
that she was a pet first; unlike the
dogs bred and trained by the likes
of Guide Dogs, Hearing Dogs and
Canine Partners. We got Molly as
an eight week old puppy in March
2013 as a family pet, but she was
a life-changer right from day one.
Before Molly I was bed bound except
for going out to hospital appointments,
and when I was out
in my wheelchair, I was stared at,
talked over and ignored. Having
Molly changed that. I was getting
out every day to walk her, enjoying
fresh air, and got back into my hobby
of photography. The four walls
that had become my prison were no
longer; my dog had set me free.
I was going to dog training classes
every week, teaching Molly tricks
at home, and even teaching her
little tasks to help me, like picking
up things when I dropped them. I
had the best summer in 2013, my
health was relatively stable and
then something happened that
would change the course of my life,
and Molly’s life, forever.
In September 2013, our neighbours
gave my mum a cutting from a
magazine to give to me. This article
talked about a charity called Dog
Assistance in Disability (Dog A.I.D)
who help disabled people train their
pet dog to become their assistance
dog. The charity pairs the disabled
person and their dog with a volunteer
trainer, and the training takes
place over three levels; passing
Level Three gains full Assistance
Dog status under Assistance Dogs
UK (the UK arm of Assistance Dogs
International), meaning the partnership
have full access rights under
the Equality Act, they get their
yellow ID book, and the dog gets
its working jacket. It was perfect for
Molly and I, knowing she had already
learnt a few tasks to help me,
so we applied. A month later Molly
was assessed for her suitability
which she passed with flying colours,
and we started the training.
In March 2014, Molly and I were
in the Friends for Life competition
at Crufts, the world’s biggest
dog show. We were voted winners
by the British public, and it was a
whirlwind of media including appearances
on The Alan Titchmarsh
Show. I became poorly after Crufts,
and from May 2014 to May 2015 I
barely walked her as I was in and
out of hospital. Then my mum, who
had learnt various specialist medical
techniques necessary to keep
me alive and at home, became ill.
After securing a 24 hour care package
from ITU nurses and overnight
carers, and fending off the CCG’s
insistence that I be put in an old
people’s home, mum had her surgery.
Molly was the only thing that
got me through mum’s illness. She
was my saving grace, without her
I’d have given up.
Soon after, Molly passed her Level
One with Dog A.I.D and we were
working really hard on her training,
enjoying lovely walks in the sun and
I had a positive focus. It was short
lived as in January 2016 I started
getting poorly, then mum was unwell
again. May came, and I started
to improve, and by July I was walking
and training Molly again every
day. To our delight, in August she
passed her Level Two, and then
on the 6th September, passed her
Level Three assessment, meaning
we were now an accredited
Assistance Dog partnership and
Molly could now come everywhere
with me to assist me. We got our
ID book and Molly her very smart
working jacket, and we started exploring
the world together.
We have had so much fun, Molly
really does love her job. She is also
a welcome attraction at events,
people love having her there. And
I love having her beside me, giving
me confidence and reducing my
dependence on those around me.
Molly’s tasks include picking up
dropped items, fetching named
items, undressing me, fetching
the post, loading and unloading
the washing machine, fetching
help, closing doors (she is learning
to open them), passing notes
between mum/nurse and I, putting
rubbish in the bin and more. However
Molly also does another task,
one she has learnt herself. I have
three chronic infections, and get
severe infections very frequently,
but due to my body not recognising
these as invaders, I end up with
sepsis before I get symptoms of an
infection or before my temperature
spikes. Molly will alert me three to
four hours before my temperature
spikes, giving me a warning that I
am going to get poorly. She does
this by incessantly and obsessively
licking my hands and arms.
It’s not just the physical assistance
though, it’s the confidence
and mental and emotional side too.
Molly broke down the barrier between
me and other people. She
keeps me going, walking her gives
structure to my day, we have fun
learning tricks and we cuddle up in
bed together. I can stroke her when
I am stressed to calm down, and
she never fails to make me smile.
The confidence she gave me led
to me accepting to speak in Parliament
in November 2013 – and
I haven’t looked back since! I now
hold seven positions within charities,
have given many speeches,
and I received an MBE in the New
Year’s Honours 2016 for services
to young people with disabilities.
She really is a life-changing dog.
Article published 04/01/2017 online
at: http://www.musculardystrophyuk.org/blog/molly-my-lifechanging-dog/

People
Getting it right
White Hart Lane
By Steve Davies
My name is Steve and I have Becker Muscular Dystrophy
and am a big Tottenham fan. My experiences
of going to live football have always been very positive
and I was quite surprised to hear that other football
grounds seem to be letting down its disabled
fans including those in the top division.
I went to my first game about 4 years ago after a
chance meeting with a friend of a friend at an MD
fundraising event who organised accessible tickets.
I didn’t think that I would ever go to a match due to
my disability but was pleasantly surprised at the access
and support, I got the bug big time.
Since my first outing I now get to a few games a
season with either my sister or my mum who get a
free personal assistant ticket. Currently I’m in a bit
of a transition phase between still being able to walk
and using a manual chair when attending games.
However this is not a problem as I can wheel to my
seat and transfer taking away the worry of falling
and, when the time comes, have the option to sit in
the wheelchair area.
Tottenham’s ground, White Hart Lane is an old stadium,
and like many old buildings making them disabled
friendly is not always simple, however here
they have worked hard to provide great facilities for
disabled people both in wheelchairs, ambulant supporters
and those in between.
They have facilities such as locked disabled toilets
with the disabled stewards having RADAR keys preventing
use and abuse by others. They also have
separate refreshment facilities to reduce queuing
time and avoid having to negotiate large numbers of
people. The disability stewards are a super group of
people who are always very welcoming to the regulars
and first timers alike. Nothing is ever too much
trouble which all adds to the great experience.
The view from the seats I have sat in have generally
been good apart from when people around me
stand up celebrating a goal. There is also one obstacle
which is nothing to most people, a small step
no more than 4 inches high between the front row
and the path in front of it which I think is there to
stop the front row from flooding. The stewards are
always very apologetic about this every time I go
as it takes me time to negotiate but they are always
there to assist, along with whoever I’m with or fellow
supporters, so it’s never an issue.
The club seem clued up on disability with their own
disability liaison officer, Shirley, who is always available
on the phone to assist with any issues and she
is present on match days.
They also have a Disabled Supporters Association
which I am a member of who provide a voice to the
club regarding all issues surrounding disability.
They are in the process of building a new stadium
and seem forward thinking to be able to improve
on what is already in place. This is exciting from
my point of view as the improvements will enhance
the experience such as having no small obstacles to
overcome and better views.
I know I’m fortunate to support a team who can
make necessary changes as not all clubs are able
to and some think they can just shy away from it.
Going to live sport is great so why should having a
disability mean missing out or putting up with poor
conditions? This is why the Trailblazers campaign
on access to spectator sports is so vital to highlight
issues to improve access for all and make that difference.
Article published 23/09/2016 online at: http://www.
musculardystrophyuk.org/blog/getting-it-rightwhite-hart-lane/
22

People
‘She wins all the races’ – A tragicomedy with biscuits
By Sheonad MacFarlane
A review on the hit show ‘She Wins All the Races’.
It’s the 1970s and Belinda is a fun loving, living life
to the full little girl. She has two brothers: Older and
Younger. They are somehow different. They don’t
walk properly. There are family secrets hidden in a
drawer, “the drawer she must never open”. One day
she opens the drawer and her world is blown apart.
Duchenne muscular dystrophy enters her life.
What can she do to save her brothers? She needs
help… A microscopic Wonderwoman travels through
the body of Younger to the left calf muscle, but the
muscle caves in around her. Duchenne is not something
that can be battled against; but instead something
is missing. She dons her supersleuth hat and
meets the elusive Dystrophin in a seedy Becker Bar:
there is hope in research – a treatment perhaps and
Science shines bright.
As time passes the reality of the disease must be
faced. Her brothers become wheelchair dependent,
their muscles weaken until they can no longer keep
their eyes open. The family becomes four… and
then three as they say goodbye.
She Wins All the Races is a quirky tragicomedy with
biscuits – Tunnock Teacakes and all! – and a modicum
of Abba. It tells the story of a little girl who has
two brothers living with Duchenne muscular dystrophy.
You understand the loss the family feels, the
ever present grief and sorrow, following their diagnosis.
You see Belinda, desperate to be seen by her
parents ever focused on the needs of her brothers.
You feel the despair as they wrangle with their own
spirituality, Jesus ever present in the room.
You imagine everyone living life to the full, wheelchairs
racing in the park, Match of the Day on a
Saturday night.
Shelley O’Brien tells her real life story openly and
honestly. The show is challenging: emotions run
close to the surface; the “beast in the labyrinth”
feels ever present in the room; the physical deterioration
evident in the graceful movements that she
makes; the loss of her brothers acutely palpable as
the balloons floating high are carefully packed away.
Music plays quietly in the background. Life carries
on; bittersweet perhaps but it carries on:
“Happiness, happiness, the greatest gift that I possess,
I thank the Lord I’ve been blessed, with more
than my share of happiness”
There are tears falling silently down my face as
Shelley takes her final bow and I am in awe of her
strength and courage. Yes, She Wins All the Races
is challenging, but educational and, for me, cathartic
too. There is courage and resilience abundant
throughout, but in the end what you are left with is
love, the love that binds this family together throughout
their journey with Duchenne. The love that encouraged
Shelley to tell her story. This same love
carries many families through each day as they live
with neuromuscular disease and that is a wonderful
and powerful force.
Shelley O’Brien is one woman on a mission, spreading
awareness of Duchenne muscular dystrophy
across the UK. If only Wonderwoman could really
help in the fight against this muscle-wasting condition…
Article published 19/10/2016 online at: http://www.
musculardystrophyuk.org/blog/all-posts-by-shewins-all-the-races-a-tragicomedy-with-biscuits/
23

People
My assistance
dog, Dalton
By David Morgan
I have had dogs for most of my life and really enjoy
having a dog. After being diagnosed with a progressive
condition like inclusion body myositis (IBM), I
knew it would affect the use of my hands. I thought
it would be useful to have a dog that could help me
with things I could no longer do.
I started to research charities that provide assistance
dogs, and wondered if they considered people
like me (with my condition) in their profile.
I realised I had to think about whether I was worthy
and capable of looking after a dog, especially
thinking about the future. With all these questions in
mind, I found a charity called Canine Partners who
seemed a good fit for me. I began the application for
an assistance dog.
This involved firstly a form-filling exercise. Then I
had to get three health professionals to report that I
was ok to take care of a dog and that I fit the charity’s
profile for having an assistance dog.
If the process goes well, you are approved and invited
to their training facility to meet them and some
trained dogs for a demonstration of their skills. Then
you go on a waiting list, which – as their dogs are in
demand – is around 12 to18 months.
The puppies are trained in basic obedience by a
“Puppy Parent” – volunteers who raise the puppy
for roughly a year. Then they go for advanced training
at the charity’s facility for 16 weeks. When they
have met a standard, they are matched with someone
on the waiting list.
When I was matched with my dog, I was invited
down to meet the dog for a day. We discussed the
requirements of my personal situation, in an effort
to match me with the qualities of the dog and to
finalise his training to meet my needs as much as
possible.
After the dog finished his training, I was booked
on a two-week residential course to train me and
the dog together. The first week was mostly training
in an inside arena where all basic situations
were practised together. Then in the second week
we spent every day at a local shopping centre practising
going through shops, lifts and so on. It was
a very valuable experience. The staff and trainers
were encouraging and very positive.
My dog, Dalton, is a three-year-old Labrador. He is
still a definite teenager in the way he acts, on his
down-time off lead in the park he is a manic teenager!
Everyone I meet thinks he is gorgeous and he
loves the attention. He gets distracted easily, so it is
a job to keep his attention and keep him focused.
At home he is quiet and compliant until the doorbell
goes, then his exuberant nature often gets the
better of him! But that’s what makes his character
interesting.
Dalton is able to help me by picking up dropped objects
from the floor, opening and closing doors and
lowering footplates on my wheelchair. He also helps
me to take off my socks and put on and take off
my coat. He is trained to activate the Lifeline emergency
call machine; on the command “ALARM”, he
touches the button with his nose. This has to be
practiced monthly and from different parts of the
house so he doesn’t forget how to do it.
I have had Dalton now for 10 months. It has been
demanding and because of my muscle and general
fatigue, it can be extremely tiring at times. But the
situation is a positive and growing experience. It
gets me out there exercising the dog, and I enjoy
how other people react to seeing my assistance dog
and engage in conversation.
The company/partnership bond with a dog is a special
one. It’s different from having a carer, although
it isn’t an either/or situation; I need the help of a
carer too in doing the things a dog can’t do.
Article published 28/11/2016 online at: http://
www.musculardystrophyuk.org/blog/ my-assistance-dog-dalton/
24

People
My Story
Marinus Mans
I have been living with limb-girdle muscular dystrophy
(LGMD) for almost two decades now. I was
misdiagnosed at first and in my twenties I thought I
had the nerve condition called Charcot-Marie-Tooth
disease. I was the master of denial and very traumatised
by the diagnosis. All of this happened in my
third year studying law, during the best days of my
life, and I think Madiba was still our president.
Back then we didn’t have the luxury of genetic testing
or anything like that, and there was still way
too much stigma attached to people seeking help
from psychologists. “When the going gets tough the
tough get going” was my mantra. I had some serious
functional depression but I managed to soldier on
and finish three law degrees.
I’m writing this article for all those warriors who think
they can’t do anything after being diagnosed, think
they won’t be able to in the future, or just want to
give up. It’s also directed at those who are on my
frequency. We all need a reminder of the awesome
things we are still able to achieve and experience –
no matter where we are in the cycle of things.
Three years ago I had to say goodbye to a successful
career which, with the help of many great people,
I had built over more than a decade – a career that
I put most of my time, heart and soul into. It paid
well and I made a difference in people’s lives. But
I reached a stage in my life where I just couldn’t
keep up with the pace anymore. I was a Specialist
Analyst for the Financial Services Board, working
weekdays, weekends and even public holidays conducting
on-site visits at large insurers and interviewing
CEOs and their staff. I was also the relationship
manager for a large group of insurers and had to
fly all over the country, causing all sorts of mayhem
everywhere I went.
I used to take one long holiday of about thirty days
just to recover from the previous year and to try to
have as much rest and fun as possible before taking
on the next challenge. But after a few years I
had pushed myself to the limit and needed to slow
things down. I had been at many crossroads in my
life, and part of living with LGMD is to accept the
hard knocks with a positive attitude. You have to become
the master of adapting.
I was lucky enough to have great disability benefits
and I’m able to live comfortably and I’m still independent.
I drive a car although I need help in and out. I
receive physical therapy twice a week. My domestic
worker helps me twice a week with household
chores and I have a handyman/shopping assistant
who comes in twice a month. He sometimes travels
with me around the country and we end up where
we’re not supposed to be. I have so many stories
about travelling!
I’m a freelance music journalist and for the past two
years I’ve been writing weekly album reviews for a
well-known Afrikaans website. I go to shows and
gigs when I feel up to it and then write about the
experience. I’m working on a science fiction/horror
novel and a collection of short stories. I do things at
my own pace now, and when I feel I can’t do something
I say no thanks.
I have learned many lessons over the years and
hope to share them with you. Keep on rolling!
25

Research
30/06/2017
We were delighted to hear the recent
news that Sarepta Therapeutics has
partnered with Genethon (read our
Breaking News page for more information).
This has positive implications for
the UNITE-DMD project that we are
co-funding with Action Duchenne and
the French Muscular Dystrophy
Association (AFM).
UNITE-DMD builds on the collaborative
work of Professor George Dickson
from Royal Holloway University and
Genethon. Over the last decade, they
have designed and refined a microdystrophin
gene therapy for Duchenne
muscular dystrophy. This research has
been largely supported by MDUK and
AFM.
This micro-dystrophin gene therapy
will be tested in a phase I/II clinical
26
The following six articles, all by Jenny Sharpe, are from the Research section of the Muscular Dystrophy
UK website (http://www.musculardystrophyuk.org/progress-in-research/news/).
12/06/2017
A new biotechnology company called
Myonexus Therapeutics is developing
gene therapies for limb girdle muscular
dystrophy (LGMD).
Myonexus’ pipeline includes three
clinical-stage programmes for LGMD
2D (alpha-sarcoglycanopathy), LGMD
2B (dysferlinopathy) and LGMD 2E
(beta-sarcoglycanopathy). The LGMD
2D and LGMD 2B gene therapies are
currently being tested in phase 1 trials
at Nationwide Children’s Hospital
Center for Gene Therapy in Ohio, USA
(visit clinicaltrials.gov for more information).
A trial testing the LGMD 2E
gene therapy is expected to begin in
November 2017.
Sarepta-Genethon partnership strengthens
prospects of UNITE-DMD
trial as part of the four-year UNITE-
DMD project. Although Sarepta is not
directly involved with UNITE-DMD,
its partnership with Genethon is extremely
beneficial and strengthens the
project’s prospects. It will contribute to
the necessary financial resources and
commercial expertise to manage future
clinical trials and regulatory approval
processes.
Professor George Dickson, one of the
leaders of UNITE-DMD, said:
Sarepta and Genethon working together,
along with patient-centred organisations
like MDUK and AFM, is a
powerful combination. It will help us to
achieve the ultimate goal of bringing a
safe and effective DMD gene therapy
into routine clinical use.
Dr Jenny Versnel, Director of
Research and Business Innovation at
MDUK, said:
Additionally, the company will advance
two preclinical programmes for
LGMD 2C (gamma-sarcoglycanopathy)
and LGMD 2L (anoctaminopathy).
Myonexus’ gene therapies use an adeno-associated
virus (AAV) to deliver
the desired gene into the body (you can
read more about this in our AAV feature
article). They were originally developed
by Dr Louise Rodino-Klapac
and Dr Jerry Mendell and their research
teams at Nationwide Children’s Hospital.
Both researchers will continue
to work closely with Myonexus, with
Dr Rodino-Klapac serving as its Chief
Scientific Officer and Dr Mendell as a
clinical development consultant.
This partnership between Sarepta and
Genethon is very exciting and will help
to advance the UNITE-DMD project in
future. The collaborative input of three
patient organisations into this project
will ensure that the voice of the
Duchenne community is heard.
Diana Ribeiro, CEO of Action
Duchenne, said:
Collaboration is vital to the Duchenne
community. We are excited to see
the benefits this partnership between
Sarepta and Genethon, can bring to the
UNITE-DMD project and what it will
mean for developing the gene therapy
approach for the global community.
Article online at: http://www.musculardystrophyuk.org/news/news/sarepta-genethon-partnership-strengthensprospects-of-unite-dmd/
New biotech launched to advance LGMD gene therapies
Dr Rodino-Klapac said in Myonexus’
press release:
Based on our strong preclinical and
early clinical data, I am excited to accelerate
clinical development of our
LGMD gene therapy pipeline and eager
to work with the Myonexus team to
continue translating our neuromuscular
disease gene therapy expertise into
potentially approved medicines.
Article online at: http://www.musculardystrophyuk.org/news/news/newbiotech-launched-to-advance-lgmdgene-therapies/

Research
Congenital myotonic dystrophy drug receives
Fast Track designation
06/06/2017
The US Food and Drug Administration
(FDA) has granted Fast Track designation
to AMO-02 (also known as tideglusib)
for the treatment of congenital
myotonic dystrophy. This will speed up
its development and help get it to patients
quicker.
AMO-02 inhibits an enzyme called
glycogen synthase kinase 3ß (GSK3ß),
which is over-active in people with congenital
myotonic dystrophy. Preclinical
research has shown that inhibiting
GSK3ß can increase muscle strength
and decrease myotonia in mouse models
of the condition.
AMO Pharma is currently testing the
safety and effectiveness of AMO-02 in
a phase 2 trial at the John Walton Centre,
Newcastle. The trial is still recruiting
participants; for more information,
please read our news story.
Dr Mike Snape, Chief Executive Officer
of AMO Pharma, said in a press
release:
The designation of Fast Track status for
our development program for AMO-02
highlights both the urgent need for a
treatment for patients and the potential
for this novel therapy to offer a major
advance in their care in the years ahead.
Fast Track designation is a special status
that helps to accelerate the development
and review of drugs for serious
health conditions. Drugs that receive
Fast Track designation are eligible for
more frequent meetings and written
communications with the FDA, as well
as accelerated review and priority approval
processes.
Article online at: http://www.musculardystrophyuk.org/news/news/congenital-myotonic-dystrophy-drug-receivesfast-track-designation/
Follistatin gene therapy improves muscle function
of people with IBM
25/04/2017
Promising results from a phase 1 trial
for sporadic inclusion body myositis
(sIBM) have been published in the scientific
journal, Molecular Therapy. The
trial tested the safety of a follistatin
gene therapy.
Follistatin is a naturally-occurring protein
that blocks myostatin. Myostatin
is a protein that limits muscle growth
and stops our muscles from becoming
too big. Blocking myostatin allows the
muscles to grow and become stronger,
which could potentially be beneficial
for people with muscle-wasting conditions
such as IBM.
The follistatin gene contains the instructions
to make follistatin protein.
Delivering a copy of the follistatin
gene into the muscle could increase
the amount of follistatin protein and
help to build muscle:
In this study, the follistatin gene was
packaged into an adeno-associated virus
(AAV). This was injected into both
quadriceps (the muscle on the front of
the thigh) of six sIBM patients, who
were then monitored for up to two
years.
The results showed that the follistatin
gene therapy was safe and well-tolerated.
It also improved the participants’
muscle function. Before treatment, they
were able to walk approximately 444m
in the six-minute walk test (6MWT).
One year after treatment, they were
able to walk about 56m further.
This is promising when compared to
the external control group of 8 sIBM
patients, who experienced a decline of
approximately 25.8m per year.
Biopsies from the trial participants’
muscles also showed that the follistatin
gene therapy reduced fibrosis (scarring)
and improved muscle regeneration.
One of the study leaders, Professor
Brian Kaspar from Nationwide
Children’s Hospital, USA, co-founded
Milo Biotechnology, which is developing
this follistatin gene therapy (called
AAV1-FS344). It is being trialled for
Becker and Duchenne muscular dystrophies,
as well as IBM.
Al Hawkins, Chief Executive Officer
of Milo Biotechnology, said:
We’re very encouraged by the results to
date in inclusion body myositis, which
form the foundation for larger pivotal
studies in this intractable disease.
Article online at: http://www.musculardystrophyuk.org/news/news/follistatingene-therapy-improves-muscle-function-of-people-with-ibm/
27

Research
Improving energy production could protect
motor neurons from SMA
05/06/2017
MDUK-funded researchers have found
that improving energy production in
certain motor neurons with spinal muscular
atrophy (SMA) could potentially
protect them from damage. This could
lead to the development of new treatments.
What were the researchers
aiming to find out?
SMA is a condition affecting motor
neurons (the nerves that connect the
spinal cord to muscle), causing them
to deteriorate and eventually die. There
are certain groups of motor neurons
that escape this fate, though the reasons
behind this are not clear.
With support from Muscular Dystrophy
UK and the SMA Trust, Professor Tom
Gillingwater and colleagues at the University
of Edinburgh investigated why
some motor neurons are protected and
some aren’t. Previous research from
Professor Gillingwater’s group had
shown that in protected motor neurons,
certain genes are turned on or off, suggesting
that gene activity plays a role
in protection. The aim of this project
was to identify the specific genes and
pathways involved in this protection, as
they could be useful therapeutic targets.
04/05/2017
aTyr Pharma has released results from
its phase 1/2 trial testing Resolaris in
young adults with early-onset
facioscapulohumeral muscular
dystrophy (FSHD).
Inflammation contributes to muscle
damage in muscular dystrophies such
as FSHD. Resolaris is a protein that
aims to reduce inflammation by altering
the body’s immune response.
The trial aimed to test the safety and effectiveness
of Resolaris in people with
FSHD who were diagnosed before 10
years of age. Eight people aged between
16-20 took part in the 12-week
study.
28
What did they find out?
Professor Gillingwater and his team
compared the gene activity of the different
motor neuron populations in
mouse models with SMA. They found
that genes involved with energy production
were more active in protected
motor neurons than in vulnerable ones.
This meant that the protected neurons
were more efficient at generating energy.
The team then investigated whether it
might be possible to protect vulnerable
motor neurons by improving their energy
production. They treated a zebrafish
model of SMA with an FDA-approved
drug called terazosin, which activates
a specific gene involved in energy production.
Terazosin reduced the number
of damaged motor neurons in this zebrafish
model, suggesting that it has a
protective effect.
How might this help people living
with SMA?
These findings improve our understanding
of the underlying biology of
SMA, which is key to developing effective
treatments. Although there is now
a licensed treatment that addresses the
primary cause of SMA by increasing
levels of SMN protein, so additional,
complementary therapies are still needed.
The results showed that Resolaris was
safe and well-tolerated, including at
the highest dose. 63% of participants
showed an improvement in muscle
strength and 67% reported an improvement
in their quality of life.
Although this trial had small numbers
of participants, its findings are promising.
They also confirm what was
observed in a separate phase 1/2 trial,
where 50% of adults with FSHD (not
early-onset) had improvements in muscle
function.
Dr Sanjay Shukla, aTyr Pharma’s
Chief Medical Officer, said:
These results are important as they
reinforce previous clinical results (in
adult FSHD and adult LGMD2B) with
SMA causes motor neuron loss early on
in life, so it is important to find ways to
protect the remaining motor neurones.
This study has identified a potential
protective pathway, which can be targeted
with a drug that is FDA-approved
for another health condition. This is
encouraging news, though further research
is needed before the drug could
be used in people with SMA.
Professor Gillingwater said:
We are very excited by these encouraging
results and hope that our work will
help contribute to the ongoing efforts to
find successful and effective treatments
for SMA and related conditions. We
are very grateful to the SMA Trust and
Muscular Dystrophy UK for supporting
this research.
The study was published in the
scientific journal, PLoS Genetics.
Article online at: http://www.musculardystrophyuk.org/news/news/improving-energy-production-could-protectmotor-neurons-from-sma/
Resolaris improved muscle strength in FSHD trial
Resolaris in a younger patient population,
with a potentially more aggressive
progression of disease.
Resolaris has Orphan Drug Designation
for the treatment of both FSHD
and limb girdle muscular dystrophy
(LGMD). This special status gives
companies certain incentives to help
develop and market their rare disease
product.
Article online at: http://www.musculardystrophyuk.org/news/news/resolarisimproved-muscle-strength-in-fshdtrial/

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 national@mdsa.org.za.
What is limb-girdle muscular dystrophy (LGMD) ?
Limb-girdle muscular dystrophy (LGMD) is not one disease but a group of genetic
disorders. The name is a descriptive term for the common features, which include
progressive weakness and wasting of the muscles closest to the body (proximal
muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and
thighs. The common X-linked muscular dystrophies Duchenne muscular dystrophy
and Becker muscular dystrophy are usually excluded from this group of disorders.
Different LGMDs may have marked variability in age of onset, severity, and progression. Features vary between different families,
and even to a lesser extent among members of the same family. Some individuals with LGMD develop joint stiffness, weak
heart muscle (cardiomyopathy), and breathing problems due to weak chest muscles. Intelligence is generally unaffected.
LGMDs are broadly classified into Type 1 forms, which have an autosomal dominant inheritance pattern (affecting individuals in
multiple generations) and Type 2 forms, which have an autosomal recessive pattern of inheritance (affecting individuals in one
generation, parents being unaffected but carriers). There are more than 30 subtypes depending on exactly which muscle protein
is faulty.
How is LGMD diagnosed?
LGMD diagnosis is complex. Clinical features are usually the clue to the diagnosis. An elevated blood creatine kinase concentration
is an important clue (although this can be elevated in other conditions). However, an exact diagnosis often requires muscle
biopsy, with detailed complex analysis of the muscle tissue. More recently, genetic testing has been able to replace muscle
biopsy for diagnosis. The muscle tissue tests and some genetic tests are available in South Africa. Some need to be sent overseas.
Genetic tests determine the exact gene and the exact genetic fault in a particular individual. One particular subtype, LGMD
2I, is particularly common in people with Afrikaans ancestry. Testing can be facilitated through local genetic services.
How is LGMD managed?
For all LGMD subtypes it is important to maintain mobility and prevent contractures through regular, non-strenuous exercise.
Individuals with LGMD should try to retain strength rather than build muscle. Mechanical aids can be very helpful to assist with
mobility. Weight should be controlled. Surgery may be required for scoliosis and foot deformities. Cardiac and lung function
should be monitored.
Doctor’s
Why is an exact diagnosis of the type of LGMD important?
Although general management is similar, specific complications of the
LGMD subtype may require specific management. When an exact subtype
is known, more accurate information can be given to other family members
about recurrence risk.
Newer gene therapies are aimed at specific subtypes, so patients can access
new therapy trials or medications only if their subtype is known. A few
new therapies are referred to elsewhere in this magazine with regard to three
clinical stage gene therapy programs (LGMD2E, LGMD2D, and LGMD2B)
and two preclinical gene therapy programs (LGMD2C and LGMD2L).
29

Sandra’s thoughts on…
“there is nothing either good or
bad, but thinking makes it so”
Sandra Bredell (MSW)
Yes, this is the famous saying of Hamlet in the
well-known play Hamlet by William Shakespeare.
Shakespeare was a very clever man – not only did he
manage to write well and was talented in theatre work,
but he seemed to have a clever way of getting people
to think. I mean, how many people do not know of his
work? To this day, 400 hundred years later, people are
still reading and studying his work. If you think that I
am going to share some ideas on English literature and
how to understand Shakespeare’s work, you are definitely
mis-sing the mark. This is all about what and how
we think about certain experiences in our life.
In philosophy a typical question would be, “How should
I live?” But, as so appropriately pointed out by Prof.
Bernard Williams of Princeton University, people rather
focus on asking “What is my duty?” (Mace, 2015). We
are all faced with different situations in life and each
one of us perceives and experiences these situations
differently. This is embedded in our spiritual and moral
beliefs and is further influenced by preconceived ideas
and the society’s standards. These internal values and
the way we understand and process information lead
and guide us in making decisions. Therefore, when we
make decisions, we might focus on what is expected of
us rather than how we should live according to our set
of beliefs (CareerRide.com, 2014).
I would like to share a story with you that I read on
the internet the other day (Falland, ©2009–2013). The
story is about a young man who had been in an accident
in which his motor bike was damaged and he
had ended up in hospital. Immediately people started to
respond by sharing the terrible news among his family
and friends by focusing on the fact that he had recently
bought the bike and how unlucky he was. On the other
hand, the young man held the belief that everything in
life happens for a reason. While he was recovering in
hospital, his house had been vandalised and burnt to
the ground. Now people responded by saying that he
was so lucky to still have been in hospital, otherwise he
could have been killed in the fire, and by posing questions
like, “How can people do that?” But the young man
stuck to his belief that things happen for a reason. Fully
recovered from the accident, the young man stood in
front of the ruins that once had been his house, when a
man in a suit walked up to him. It turned out that he was
working for a property development company and that
they were interested in buying this property. A joint project
for the property was discussed and they sealed the
deal. Townhouses were built and the young man made
a good profit from this business deal. The response
from the family and friends was that if his house had
not burnt down he would not have had this business opportunity.
The young man’s reply was that this might be
true, but everything happens for a reason.
What does this say about you and me? What would
your thoughts have been and how would you have responded
if you had been in the young man’s situation?
In our country, we have experienced flooding, drought,
water restriction and very recently the devastating
Knysna fires. People think differently about these experiences
as well. What stood out for me when all of
this was happening in Knysna was the caring behaviour
of the people of South Africa. Volunteers joined the
firefighters, other volunteers cared for the firefighters,
nationally people donated goods and money towards
people in need, churches offered help and accommodation,
holiday property owners assisted with accommodation,
volunteers cared for animals, school stationery
was provided for scholars, and trauma counselling was
provided to the people of Knysna. Terrible circumstances
like this, could easily influence people’s perceptions
and experiences and make them think negatively about
them, but they could also easily do the opposite.
Does this make you think about your own beliefs and
thoughts and how they influence the decisions you
make, especially concerning the question “How should
I live my life?” You can change the way you think about
things, but this remains your choice.
References
CareerRide.com. 2014. Good or bad – your thinking
makes it so. http://www.careerride.com/view/good-orbad-your-thinking-makes-it-so-15357.aspx
Falland, C. ©2009-2013. There is nothing either good
or bad but thinking makes it so. Blog – Conversations
to inspire, no date. http://candeecefalland.com/mindset/there-is-nothing-either-good-or-bad-but-thinkingmakes-it-so/
Mace, W.L. 2015. There is nothing either good or bad but
thinking makes it so: The case against moralism. Blog
– Campus confidential: Coping with college, January
08. Psychology Today. https://www.psychologytoday.
com/blog/campus-confidential-coping-college/201501/
there-is-nothing-either-good-or-bad-thinking-makes-it
30

Motorised Wheelchair
Maintenance
A wheelchair should be maintained so that it will last and
work properly. When wheelchairs break down, it becomes
a problem to move around independently and get involved
socially.
There are many things that a wheelchair user, caregiver
or family member can do to maximise the chair’s lifetime
and usefulness.
When purchasing a wheelchair, read the supplier’s manual
on preventive maintenance. This contains specifics of
caring for the particular make of wheelchair. Keep
the manual for future reference after you have read it.
Take proper care of your wheelchair.
By Pieter Joubert
Guide to regular maintenance for a wheelchair
Give the chair a thorough cleaning on a regular basis with
a soft, damp cloth and keep dirt out of the mechanisms.
Cleanliness is important so that dirt does not get into the
gears, motors, or other parts.
Check tyre pressure and ensure that the wheel locks are
still tightly attached to the frame and that they are easy to
activate.
Look at the axle housing and clean away any dirt.
Examine the front casters to check for looseness,
misalignment, or wobbling.
Check that removable parts, like the leg rests or back rests,
are comfortable. They can be easily removed and put back
on.
Some routine maintenance and inspection procedures may
not be possible. Contact the supplier and make an appointment
to have the wheelchair serviced. Do not allow people
who are not trained to do repairs and tamper with your
wheelchair; rather have a service provider look at it.
Check the battery and connections regularly. Charge the
battery when the charge level is half. The battery will last
longer if you charge it after usage. Check joystick controls
to make sure they are operating properly. Do not switch on
or tamper with the joystick whilst charging.
Do not pick up a charger on its wires as they will become
loose and you will not be able to charge your wheelchair.
A well-maintained wheelchair can last for many years. Do
not allow people to play or tamper with your wheelchair.
A wheelchair is a necessity for you to be able to move
around independently.
Article online at: http://mdfgauteng.org/motorised-wheelchair-maintenance/
Suppliers of Medical Equipment
CE Mobility
Phone: 0860 236624
Johannesburg, Cape Town, Durban,
Port Elizabeth, Pretoria & Rivonia
Website: www.cemobility.co.za
Impact Medical Supplies
Phone: 011 469-1750
E-mail:impactmed@worldonline.
co.za
Website: www.impactmedical.co.za
Clinical Emergencies
Phone: 011 443-9093
E-mail: clinical@icon.co.za
Website: www.clinicalemergencies.
co.za
Solutions Medical
Phone: 021 592-3370
Website: www.wheelchairs.co.za
Medmedical
Phone: 011 640-5262
Website: www.medmedical.co.za
Medop cc
Phone: 011 827-5893/4/5
Website: www.medop.co.za
Wheelchairs on the Run (Pty) Ltd
Phone: 011 955-7007
Website: www.wheelchairs-ontherun.
co.za
Radical Mobility
Phone: 011 664-6069
E-mail: www.radicalmobility.com
Hands on Lifts (Pty) Ltd
Phone: 011 918-7060/1
E-mail: lynn@handsonlifts.co.za
Website: www.handsonlifts.co.za
Chairman Industries
Phone: 011 624-1222
Website: www.chairmanind.co.za
Flybrother SA
Phone: 011 425-4300
Cell phone: 084 777 5105
Website: www.flybrothersa.co.za
Jessen Dakile (Pty) Ltd
Phone: 011 793-6260
Website: www.jessendakile.co.za
Sheer Mobility
Phone: 021 552-5563
Cell phone: 082 926 5414
Website: www.sheermobility.co.za
Shonaquip
Phone: Cape Town 021 797-8239
Phone: Pretoria 012 665-1211
Phone: Port Elizabeth 079 524-4350
E-mail: nina@shonaquip.co.za
Website: www.shonaquip.co.za
31

Cape Branch
Adult Support Group
At our Adult Support Group it has been all about understanding
MD and its assistive devices better. Thank
you very much to Ms Amber Ross (intern genetics
counsellor) and Theunis Hattingh (F & H Mobility Services)
for taking time out to teach us about the genetic
component of muscular dystrophy and wheelchair battery
maintenance. We absolutely loved learning from
you.
Awareness Networking
There is nothing more fulfilling and educational than getting
to connect with other disability focused NGOs in Cape
Town. Thank you very much to our local Department of
Social Services office for inviting us to spread the awareness
at this incredible social networking event in Retreat.
Winter Drive
32
The Cape Branch ran a campaign to keep our members
warm in the icy cold winter weather. We are happy to report
that knee blankets and knitted gloves were distributed to a
number of our members. Thank you to our lovely Win van
der Berg and Vanessa Jordaan for all the love and energy
they poured into knitting the many pairs of gloves.

Craft Day for Children
with Duchenne
Cape Branch
This term’s activity for our Duchenne children
was a model building morning. The boys enjoyed
hot chocolate and muffins on arrival and
then set to work building aeroplanes and
exotic creatures.
After all that tricky work a Kentucky fried
chicken lunch box was provided for lunch. The
children went home with a warm knee blanket
and a pair of knitted gloves each. It was a funfilled
morning and everyone left with a model
to display at home.
Shannon van den Heever's
21st Birthday
A very happy twenty-first birthday to
“Princess” Shannon van den Heever.
You looked absolutely gorgeous at
your party. Wish we could have
joined you!
In Memoriam: Viola Stephens
It is with great sadness that we bid farewell to Mrs Viola Stephens, who passed away on 17th June 2017.
Our sincere condolences to her family. We will dearly miss this beautiful determined,
kind and inspirational woman.
33

Gauteng Branch
Robert Scott Biography
I am 27 years old and I was born in South Africa, but the majority
of my family are from Scotland. I have two degrees in psychology
and I have always had a passion for helping make a difference in
the lives of others.
My hobbies include playing video games, reading thriller novels
and watching sci-fi movies. I am a huge Batman fan and collect
comic books and statues from the series. I also did mixed martial
arts for seven years, which taught me a lot of discipline in life. I am
very excited to be a part of MDF Gauteng and look forward to a
long and fruitful career working with all of you.
Muscle Riders
(Ride For A Purpose – ride for
those who can’t)
This is the sixth year that we will participate in the
Telkom 947 Cycle Challenge. The cycle challenge
will take place on Sunday, 19 November 2017 at
Riversands Commercial Park. Our Muscle Riders
group are a group of cyclists who care for people
affected with muscular dystrophy and want to make
a difference in the lives of those less fortunate than
themselves.
Please ask family and friends who cycle to ride for us.
We would like to get more riders who can help generate awareness and much-needed funds. We rely on the
support of individuals and companies to support us so that we can give our members the assistance they
need. We wish to thank everyone who rode for us last year and is supporting us again this year.
If you are unable to ride for us, you are welcome to make a donation to our worthy cause. We can issue you
with a section 18(a) tax certificate for tax purposes.
Banking details are as follows:
Name: Muscular Dystrophy Foundation Gauteng
Bank: Nedbank
Branch code: 192841
Branch: Flora Centre Florida
Account number: 1958 323 284
Reference: Muscle Riders and your name
Website: www.muscleriders.co.za
Facebook page: www.facebook.com/mdfgautengcycle
Should you be interested in riding for us or helping us to make this project a success, please let us know so
that we can provide you with further information.
34

Gauteng Branch
Welcome Beauty Matimu Mathebula
I am a social worker based in Ekurhuleni Metropolitan Municipality
area. I come from Limpopo, Giyani, Ka Ngove and currently reside
in Germiston.
I have an honours degree in social work obtained at the University
of South Africa (UNISA). I am a mother of a girl, aged 7 and a boy,
aged 3. I am a God-fearing woman who attends church at the Unity
Fellowship Church. I enjoy helping people in need of support and I
am a motivational speaker for young people at schools and focus
on the importance of investing their future in education. My hobbies
include reading and singing. Over weekends, I spend my time doing
voluntary work at children's homes and orphanages.
Muscular Dystrophy
Workshop
Muscular Dystrophy Foundation Gauteng is pleased
to announce that we will be hosting a workshop on
different types of muscular dystrophy.
Parents of children and persons affected with any
type of muscular dystrophy are encouraged to
attend.
Speakers:
Prof. John Rodda (Paediatric Neurologist)
Mrs Suretha Erasmus (Genetic Counsellor)
Mrs Kerrie Austin (Physiotherapist)
The workshop will be conducted, free of charge, on Saturday, 2 September 2017 (09:00 registration and
tea) at Hope School, Pallinghurst Avenue, Westcliff.
To make a booking, please contact MDF Gauteng before Friday, 18 August by phone on 011 472-9824
or by e-mail at mdfgauteng@mdsa.org.za.
Thank you, DStv for airing our advertisements about
muscular dystrophy.
We are most grateful for your support.
35

Gauteng Branch
Keletso Morulane’s 21st Birthday
I turned 21 on 29 January 2017.
My 21st birthday party was a day I will never forget. I would like
to thank my family and friends for celebrating it with me, and to
my mom and sister, thank you for making the day a success. It
was really nice and I thoroughly enjoyed it. I wish I could turn
back time and do it all over again.
Keletso Morulane
In Loving Memory
Ethan John Thomson
11 March 1999 – 20 March 2017
Our hearts are broken on the loss of our Ethan – we will
miss you our Angel.
Ethan had a personality all of his own and brought great
joy, laughter and happiness to so many over the years.
He was admitted to the I.C.U. at Mulbarton, where he
celebrated his 18th birthday, and after a very brave battle,
our Good Lord took him Home to be with Him on,
Monday 20th March 2017.
“God saw you getting tired, when a cure was not to be, so HE wrapped his arms around you and
whispered, ‘Come to Me’.
And when I saw you sleeping so peaceful and free from pain, I could not wish you back to suffer
that again.”
May the Force be with you always Ethan.
Thank you, Foghound Studios, for producing an
amazing ad about our Muscle Riders.
We are most grateful for your support.
36
Foghound Studios offer a complete, in-house and cost-effective solution to television and
radio commercials, event production and content production. They are passionate about
delivering quality and value on deadline and within budget.

KZN
Thank You to Westville
Boys High School
On Friday 24th February Westville Boys High
School hosted their annual golf day at Kloof
Country Club. We were given a hole to set up
with our branded table and gazebo. Thank you
for allowing us this opportunity to generate
awareness and bring in much-needed funds.
We raised R3 540 in donations.
Mohamed Adam and Siyabonga
Thusi get to be mobile
On Thursday 6th April we were delighted that Mohamed
Adam and Siyabonga Thusi received their motorised wheelchairs.
Mohamed is 9 years old and affected with Duchenne
muscular dystrophy. He attends A.M. Moolla Spes Nova
School. He had never used a motorised wheelchair before
and was full of excitement.
Siyabonga Thusi also had not used a motorised wheelchair
before and could not stop smiling. Siyabonga is 20 years old
and has Duchenne muscular dystrophy. He lives in Tongaat
with his mom, Nokuthula.
Thank You
Westville Senior Primary School
On Thursday 6th April we were delighted that Mohamed
Adam Westville Senior Primary School supported MDF KZN
for the seventh year in a row and handed over a cheque of
R3 000 on Friday, 30th June to support the Muscular
Dystrophy Foundation KZN. Thank you so much to the
Principal, Mr Richard Brown, the staff and pupils for
your constant support; it is much appreciated.
From Westville Senior Primary’s Facebook page:
Our school motto, “Ut Prosim” (We Shall Serve) is an
integral part of our school ethos and our children have a keen awareness of the need to play a positive role in
supporting those in need. Today saw another chapter in this ongoing WSPS charity programme as the
Muscular Dystrophy Foundation were handed a cheque of R3 000 to assist their excellent work in helping those
with this debilitating condition. We take this opportunity to salute all the staff at MDF for their invaluable work.
37

Big smiles from Zamageba Zulu as she
becomes mobile
On Monday 15th May Zamageba, aged 18, affected with centronuclear
myopathy, received a motorised wheelchair. Zamageba is in Grade 11 and a
learner at Open Air School. The wheelchair will make a huge difference and
give her the independence she needs to move around independently. It will
allow her to interact with friends and family without requiring to be pushed
everywhere.
The thank-you letter from Zamageba reads as follows:
Dear Ma’am
A thank you might not be enough, but then again, I don’t know what to say or how to begin. Few years back, in
my old school, I had an electric wheelchair, but it was not mine. I knew I would have to leave it. I was so grateful
because I had a chance to do things I couldn’t do in a manual wheelchair.
This is so cool. I just found out that I wasn’t the only one waiting for this wheelchair. I got new friends, on the first
day, because of the wheelchair. Again, this is so cool. I will be able to move around easily. I went up the ramp,
my first time, and I was screaming the whole time. It was such a rush. As slow as it was, I was scared. I had fun.
In Grade 9, we chose subjects. I had no idea what I wanted to be. My disability was one of my reasons. But then
I found a passion. I started writing in Grade 7. None of the books I started were finished. I found new ideas, but I
never got to finish them or write them down.
Now I have three novels that I’m busy with. They are going well. The problem was, while I thought about the setting
for my books, I knew it wouldn’t be possible because I knew that I wouldn’t be able to go around and look for the
best place. But now I have hope. All thanks to you. Like I said, life is gonna be awesome!
Now I’m going to the university without difficulties. I’m going to explore the world. Mom will be so happy when I
tell her the good news. She always wanted me to have one of these wheelchairs. You have helped me in so many
ways. So from the bottom of my heart, thank you, thank you, thank you, thank you so much. I guess one thank you
is not enough.
#ILoveYouToTheMoonAndBack
From Zama
Casual Day 2017
Casual Day has become a firm favourite on the calendar of many of South Africa’s businesses, with some
corporates sponsoring stickers for their entire staff complement as a corporate social investment initiative.
Approximately 4 500 companies, 100 hundred schools and 400 organizations rendering services to persons
with disabilities are participating. It is an excellent opportunity for corporate team building, whilst also making
a contribution to one of the country’s most vulnerable sectors of society; persons with disabilities. This year
Casual Day takes place on Friday, 1 September 2017. The theme for this year is “Let’s celebrate our diversity!”
Casual Day is one of the fundraising events that we participate in every year, in order for us to raise much needed
funds towards our cause. We are kindly appealing for your participation in this fundraising event by purchasing
Casual Day stickers. You may purchase stickers, as many stickers as you want, at the price of R10-00 per sticker.
Of this amount, MDF will receive R4-00 per sticker. You can purchase your stickers at your nearest branch.
• National Office – Tel. 011 472-9703
• Gauteng Branch – Tel. 011 472-9824
• Kwazulu-Natal Branch – Tel. 031 332-0211
• Cape Branch – Tel. 021 592-7306
38
We hope that you will be able to assist us as your participation will go a long way in making
a difference in the lives of our members.