MDF Magazine Newsletter Issue 55 April 2018

Autumn Issue 55
April 2018
R25.00 incl. VAT
Cycle Challenge
Muscle Riders
“Walk/run for
those who can’t”
Suzanne Glover
living with
SMA
"Don't be limited by your challenges.
Challenge your limits"

DF
Magazine
05 MDF notice board
06 National news
07 MD information
11 Disability information
MD INFORMATION
07 Friedreich’s ataxia
09 Stem cells – what are they, and could they be a potential
therapy?
11 SARS disability tax credits
Events
13 Akasia Athletic Club Fun Walk
14 Telkom 947 Cycle Challenge – Muscle Riders 2017
People
18 Peter Neville: Charcot-Marie-Tooth disease
19 Moving up in six questions: An interview with
Rianna Davis
20 Suzanne Glover on living with SMA Type 2
22 Don't be limited by your challenges
Regular Features
28 The View from Down Here
29 Doctor’s corner
30 Sandra’s thoughts on … Uncertainties in life
Research
24 Potential treatment for CMT
24 IBM trial at University College London
25 Preliminary results from FSHD trial
25 Genome editing corrects mutation in new Duchenne
mouse model
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
Cover photo of Bernadette Francois by Robert Scott
Future Issues:
August 2018
(Deadline: 29 June 2018)
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
Due to the rising costs of printing and postage, the National Office is no longer
in a position to print and distribute physical copies of the magazine. It will now
be available only as an e-magazine.
In this issue you will read of personal stories and awareness events. As usual
you will also find MD information and research articles. In order to keep our
readers interested and updated, we will continue to share information and
stories of interest with you. Please share your stories and let us know what you
would like to read about in the magazine.
Timothy Tebow, a professional baseball outfielder, was born in the Philippines
to Christian missionaries. Tebow says his main goal is to live a life he will
be proud of decades from now. He has started the Tim Tebow Foundation,
fighting for those who can’t. He asked the following questions: What are you
fighting for? What are you going to be known for? What is your legacy? Is whatever you are fighting for worth
it? Are you going to stand for something in this life? When I read about his foundation it made me realize that
our foundation has the same values. We want to give a message of hope to families and every person affected
by muscular dystrophy. We’ve got to bring Faith, Hope and Love every day to everything we get in contact with.
Share a message of hope with every single person. If we don’t do it now, when? Will you one day say that you
brought about Faith, Hope and Love and it was worth it?
People should focus on a person’s ability to have a positive impact on this world. We would not have been
able to accomplish our mission to assist affected members without the support of caring people and generous
donors over the years. We hope that you will consider becoming involved with our organisation through prayer
and our fundraising initiatives to change the lives of those affected with muscular dystrophy. We will continue
to do our utmost to support all people affected with muscle-wasting conditions. With your support we can make
a difference!
As Denzel Washington says in his book A Hand to Guide Me (Meredith Books, 2006):
At the end of the day, it’s not about what you have or even what you’ve accomplished. … It’s about who you’ve
lifted up, who you’ve made better. It’s about what you’ve given back.
Regards
Pieter Joubert
gcnetwork
genetic counselling • making sense of genetics
What is genetic counselling?
Genetic counselling is a medical service that provides you with
information about genetics to help you understand the impact of
a genetic condition on your life, and assist you with making
informed personal and medical decisions.
Genetic counsellors: Suretha Erasmus and Noelene Kinsley
Website: www.gcnet.co.za
Telephone: 010 595 1005
Email: info@gcnet.co.za
Cell phone: 082 375 1118 (Suretha Erasmus)
Address: Northcliff Medical Centre, Suite 104, 155 Beyers Naude Drive, Northcliff
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 e-mail 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 the National Office by
e-mail 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 Potgieter
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
First of its kind outside the
borders of the United States
By Gerda Brown
We are happy to announce that on 27 October 2017, the Muscular Dystrophy
Foundation of South Africa (MDSA) awarded the status of Global Certified
Duchenne Care Center to the Red Cross War Memorial Children’s Hospital in Cape
Town. This certification is the first of its kind outside the borders of the United
States and confirms that the Duchenne-specific patient care and services provided
at this centre are provided in agreement with international standards. To retain the
certification, the Red Cross Hospital must satisfy the MDSA that the agreed level of care is being maintained. We are hopeful
that, with this recognition, South Africa will now have access to early therapeutic interventions as part of Duchenne clinical
trials. In the past, South African clinics were not considered viable due to the perception that we had limited resources.
During August and September 2016 the Muscular Dystrophy Foundation was fortunate in hosting representatives from Parent
Project Muscular Dystrophy (a Duchenne-specific organisation based in the United States) to present lectures about Duchenne
muscular dystrophy to our South African families and clinicians. Parent Project Muscular Dystrophy (PPMD) is recognised
around the world as the leader in the Duchenne community. Because of their efforts, families affected by Duchenne have
better access to state-of-the-art care information and research. This visit led to the neuromuscular service, based at Red Cross
War Memorial Children’s Hospital, to apply for certification by the PPMD as a Certified Duchenne Care Center.
Muscular dystrophy (MD) is the name given to a group of more than 70 different neuromuscular disorders causing progressive
wasting and weakness of the muscles. Each type presents differently and with its own levels of complexity. The prognosis
varies according to the type of MD and the speed of progression. Some types are mild and progress very slowly, allowing
normal life expectancy, while others are more severe and result in functional disability and loss of the ability to walk. The
disorders are usually inherited, with the defective gene being passed on from one generation to the next. However, MD can
also occur in families where there is no prior history of the condition.
Duchenne muscular dystrophy (Duchenne) is the most serious neuromuscular genetic disorder diagnosed in childhood.
Because the Duchenne gene is found on the X-chromosome, it primarily affects boys. Duchenne results in progressive
loss of strength and is caused by a mutation in the gene that
encodes for dystrophin. Because dystrophin is absent, the
muscles gradually break down. The progressive muscle
weakness leads to serious medical problems, particularly
issues relating to the heart and lungs. Young men with
Duchenne typically lose the ability to walk between the ages
of 10 and 14 years and live only into their late twenties.
About the Muscular Dystrophy Foundation of South Africa (www.mdsa.org.za)
The Muscular Dystrophy Foundation of South Africa is a registered non-profit organisation consisting of a National Office
and three branches which operate in the nine provinces of South Africa. The Foundation was founded in 1974 by Mr and Mrs
Walker, who at the time had a son affected with Duchenne Muscular Dystrophy. The Foundation was established with the aim
of reaching out to other parents and families in a similar situation and to support research into this disease with the ultimate
goal of finding a cure.
About the Global Certified Duchenne Care Center Program
Created by Parent Project Muscular Dystrophy (PPMD) in the US, the Global Certified Duchenne Care Center (CDCC)
Program offers a path forward for global neuromuscular patient advocacy groups to certify Duchenne Care Centers within
their own countries. Patient advocacy groups, operating within their own country and under the guidance of Parent Project
Muscular Dystrophy’s Certified Duchenne Care Center Program, grant certification to local Duchenne Care Centers that meet
the high standards set forth by this program. Learn more online at EndDuchenne.org/CareCenters.
6

Friedreich’s Ataxia
MD
What is Friedreich's ataxia?
Friedreich's ataxia (also called FA or FRDA) is a rare inherited
disease that causes nervous system damage and movement
problems. It usually begins in childhood and leads to
impaired muscle coordination (ataxia) that worsens over time.
The disorder is named after Nicholaus Friedreich, a German
doctor who first described the condition in the 1860s.
In Friedreich’s ataxia the spinal cord and peripheral nerves
degenerate, becoming thinner. The cerebellum, part of the
brain that coordinates balance and movement, also
degenerates to a lesser extent. This damage results in
awkward, unsteady movements and impaired sensory
functions. The disorder also causes problems in the heart and
spine, and some people with the condition develop diabetes.
The disorder does not affect thinking and reasoning abilities
(cognitive functions).
Although rare, Friedreich’s ataxia is the most common form
of hereditary ataxia. Both male and female children can
inherit the disorder.
What are the signs and symptoms?
By the US National Institute of Neurological Disorders and Stroke
Most individuals with Friedreich’s ataxia tire very easily and
find that they require more rest and take a longer time to
recover from common illnesses such as colds and flu.
The rate of progression varies from person to person.
Generally, within 10 to 20 years after the appearance of
the first symptoms, the person is confined to a wheelchair,
and in later stages of the disease individuals may become
completely incapacitated.
Friedreich's ataxia can shorten life expectancy, and heart
disease is the most common cause of death. However, some
people with less severe features of Friedreich's ataxia live
into their sixties, seventies, or older.
How is Friedreich's ataxia diagnosed?
A diagnosis of Friedreich's ataxia requires a careful
clinical examination, which includes a medical history and a
thorough physical exam, in particular looking for balance
difficulty, loss of proprioception (joint sensation), absence of
reflexes, and signs of neurological problems. Genetic testing
now provides a conclusive diagnosis. Other tests that may
aid in the diagnosis or management of the disorder include:
Symptoms typically begin between the ages of 5 and 15
years, although they sometimes appear in adulthood and
on rare occasions as late as age 75. The first symptom to
appear is usually gait ataxia, or difficulty walking. The ataxia
gradually worsens and slowly spreads to the arms and the
trunk. There is often loss of sensation in the extremities,
which may spread to other parts of the body.
Other features include loss of tendon reflexes, especially in
the knees and ankles. Most people with Friedreich's ataxia
develop scoliosis (a curving of the spine to one side), which
often requires surgical intervention for treatment.
Dysarthria (slowness and slurring of speech) develops and
can get progressively worse. Many individuals with later
stages of Friedreich’s ataxia develop hearing and vision
loss.
Other symptoms that may occur include chest pain, shortness
of breath, and heart palpitations. These symptoms are the
result of various forms of heart disease that often accompany
Friedreich's ataxia, such as hypertrophic cardiomyopathy
(enlargement of the heart), myocardial fibrosis (formation of
fiber-like material in the muscles of the heart), and cardiac
failure. Heart rhythm abnormalities such as tachycardia (fast
heart rate) and heart block (impaired conduction of cardiac
impulses within the heart) are also common.
About 20 percent of people with Friedreich's ataxia develop
carbohydrate intolerance and 10 percent develop diabetes.
• electromyogram (EMG), which measures the electrical
activity of muscle cells,
• nerve conduction studies, which measure the speed with
which nerves transmit impulses,
• electrocardiogram (ECG), which gives a graphic presentation
of the electrical activity or beat pattern of the heart,
• echocardiogram, which records the position and motion of
the heart muscle,
• blood tests to check for elevated glucose levels and vitamin
E levels, and
• magnetic resonance imaging (MRI) or computed tomography
(CT) scans, tests which provide brain and spinal cord
images that are useful for ruling out other neurological
conditions.
How is Friedreich's ataxia inherited?
Friedreich's ataxia is an autosomal recessive disease,
meaning individuals only develop symptoms if they
inherit two copies of the defective FXN gene, one from their
father and one from their mother. A person who has only one
abnormal copy of the gene is called a carrier. A carrier will
not develop the disease but could pass the gene mutation
on to his or her children. If both parents are carriers, their
children will have a 1 in 4 chance of having the disease and
a 1 in 2 chance of inheriting one abnormal gene that they,
in turn, could pass on to their children. About one in 90
Americans of European ancestry carries an abnormal FXN
gene.
7

MD
In 1996, an international research team identified the
Friedreich’s ataxia gene on chromosome 9. The FXN gene
codes for production of a protein called "frataxin." In the
normal version of the gene, a sequence of DNA (labeled
“GAA”) is repeated between 7 and 22 times. In the defective
FXN gene, the repeat occurs over and over again – hundreds,
even up to a thousand times.
This abnormal pattern, called a triplet repeat expansion, has
been implicated as the cause of several dominantly inherited
diseases, but Friedreich's ataxia is the only known recessive
genetic disorder caused by the problem. Almost all people
with Friedreich's ataxia have two copies of this mutant form
of FXN, but it is not found in all cases of the disease. About
two percent of affected individuals have other defects in the
FXN gene that are responsible for causing the disease.
The triplet repeat expansion greatly disrupts the normal
production of frataxin. Frataxin is found in the energyproducing
parts of the cell called mitochondria. Research
suggests that without a normal level of frataxin, certain cells
in the body (especially peripheral nerve, spinal cord, brain
and heart muscle cells) cannot effectively produce energy and
have been hypothesized to have a buildup of toxic byproducts
leading to what is called “oxidative stress.” It also may lead
to increased levels of iron in the mitochondria. When the
excess iron reacts with oxygen, free radicals can be produced.
Although free radicals are essential molecules in the body's
metabolism, they can also destroy cells and harm the body.
Can Friedreich's ataxia be cured or treated?
As with many degenerative diseases of the nervous
system, there is currently no cure or effective treatment for
Friedreich's ataxia. However, many of the symptoms and
accompanying complications can be treated to help
individuals maintain optimal functioning as long as possible.
Doctors can prescribe treatments for diabetes, if present; some
of the heart problems can be treated with medication as well.
Orthopedic problems such as foot deformities and scoliosis
can be corrected with braces or surgery. Physical therapy may
prolong use of the arms and legs. Advances in understanding
the genetics of Friedreich's ataxia are leading to breakthroughs
in treatment. Research has moved forward to the
point where clinical trials of proposed treatments are
presently occurring for Friedreich’s ataxia.
What services are useful to Friedreich's ataxia
patients and their families?
therapists, and speech therapists to help deal with some of the
other associated problems.
What research is being done?
Researchers are optimistic that they have begun to understand
the causes of the disease, and work has begun to develop
effective treatments and prevention strategies for Friedreich's
ataxia. Scientists have been able to create various models
of the disease in yeast and mice which have facilitated
understanding the cause of the disease and are now
being used for drug discovery and the development of novel
treatments.
Studies have revealed that frataxin is an important mitochondrial
protein for proper function of several organs. Yet in
people with the disease, the amount of frataxin in affected
cells is severely reduced. It is believed that the loss of frataxin
makes the nervous system, heart, and pancreas particularly
susceptible to damage from free radicals (produced when the
excess iron reacts with oxygen). Once certain cells in these
tissues are destroyed by free radicals they cannot be replaced.
Nerve and muscle cells also have metabolic needs that may
make them particularly vulnerable to this damage. Free
radicals have been implicated in other degenerative diseases
such as Parkinson's and Alzheimer's diseases.
Based upon this information, scientists and physicians have
tried to reduce the levels of free radicals, also called oxidants,
using treatment with "antioxidants." Initial clinical studies in
Europe suggested that antioxidants like coenzyme Q10,
vitamin E, and idebenone may offer individuals some limited
benefit. However, recent clinical trials in the United States
and Europe have not revealed effectiveness of idebenone in
people with Friedreich’s ataxia, but more powerful modified
forms of this agent and other antioxidants are in trials at this
time. There is also a clinical trial to examine the efficacy of
selectively removing excess iron from the mitochondria.
Scientists also are exploring ways to increase frataxin
levels through drug treatments, genetic engineering and
protein delivery systems. Several compounds that are directed
at increasing levels of frataxin may be brought to clinical
trials in the near future.
Article online at: https://www.ninds.nih.gov/Disorders/Pa-
tient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-
Fact-Sheet
Genetic testing is essential for proper clinical diagnosis, and
can aid in prenatal diagnosis and determining a person’s
carrier status. Genetic counselors can help explain how
Friedreich's ataxia is inherited. Psychological counseling and
support groups for people with genetic diseases may also help
affected individuals and their families cope with the disease.
A primary care physician can screen people for complications
such as heart disease, diabetes and scoliosis, and can
refer individuals to specialists such as cardiologists, physical
8

Stem Cell
Stem cells – what are they, and could they be a
potential therapy?
A mouse muscle fibre showing dystrophin protein
(red), nuclei (blue) and a satellite cell (green). Image
courtesy of Dr Bruno Doreste, University College London.
Stem cells are considered to have great potential for treating
numerous health conditions. We hope this article will help
you understand more about stem cells, and about where
research is in developing a stem cell therapy for musclewasting
conditions.
What are stem cells?
Our bodies are made up of many different types of cells that
are specialised to perform particular functions. For example,
the individual fibres that make up our muscles are specialised
for muscle contraction.
Stem cells are distinct from other cells in our body in that
they are unspecialised. They have the ability to develop
into many different types of cell through a process called
‘differentiation’. They are also able to self-renew, which means
they can keep dividing and producing identical copies of
themselves. These properties therefore make them attractive as
a potential therapeutic option for muscle-wasting conditions.
Stem cells are important in early life and growth, as they
develop into the cells that make up all of our tissues
and organs. But their role doesn’t end there. They are
continually working throughout our lives to ensure we
have all the cells we need. They are essential to the
maintenance of tissues such as skin, gut and blood that
undergo continuous turnover. They are also vital in maintaining
muscle, which can be built up according to the body’s
needs and can often get damaged during physical exertion.
Types of stem cell
By Muscular Dystrophy UK
There are two main types of stem cell found naturally inside
the body:
• embryonic stem cells – as their name suggests, these
stem cells originate from an embryo. They supply new
cells to the embryo as it grows and develops into a baby.
Embryonic stem cells are pluripotent, which means they
can develop into any type of cell.
• adult (somatic) stem cells – these not only supply new
cells as a person grows but also replace cells that get
damaged. Somatic stem cells are multipotent, which means
they can only change into certain cell types. For example,
muscle stem cells (satellite cells) specialise into muscle
cells. However, research has found that some adult stem
cells are more versatile than previously thought. Stem cells
from blood vessels (mesoangioblasts) and even from fat
tissue (adipose stem cells) are capable of becoming muscle
cells under certain growth conditions (see figure 1 below).
Figure 1: Satellite cells are adult stem cells found inside our muscle. They specialise into immature muscle cells called
myoblasts, which fuse together to form myotubes. These myotubes align to form mature muscle fibres. This entire process,
which is highly regulated, requires different signals to trigger each step.
It is also possible to manufacture stem cells in the
laboratory by adding a cocktail of ‘reprogramming’ factors
to specialised cells such as skin cells. These specialised cells
then convert to induced pluripotent stem (iPS) cells, which
can subsequently be converted into any type of cell. iPS cells
are similar to embryonic stem cells in this way.
From a therapeutic perspective, iPS cells can be produced
from a patient’s own cells, which makes them useful
tools for studying the treatment of human diseases. And,
because they’re made from a person’s own cells, they can be
used to create cells that can be transplanted back into the
person without the risk of immune rejection. For example,
iPS cells from someone with a genetic muscle-wasting
condition could be genetically ‘corrected’ outside of the body
using a gene therapy or genome-editing approach, allowed to
differentiate into healthy muscle cells, which are then
transplanted back into the body (see figure 2 below).
9

Stem Cell
Figure 2: Making healthy muscle cells from patient skin cells
Stem cells and muscle wasting
Stem cells found in skeletal muscle are called satellite cells
and their function is disrupted in some muscle-wasting
conditions. This is because the muscle gets damaged
easily and there is a continuous cycle of muscle
degeneration and regeneration. The satellite cells
cannot keep up with the demand for new muscle fibres and
eventually become exhausted and ineffective, which
ultimately leads to muscle wasting.
The underlying genetic mutation can also directly affect
satellite cell function. For example, the mutation that causes
facioscapulohumeral muscular dystrophy (FSHD) leads to
the activation of a protein called DUX4, which is toxic to
satellite cells. The loss of dystrophin in Duchenne muscular
dystrophy may also affect the division of satellite cells.
Stem cell therapy
Stem cell therapy is the transplantation of stem cells into
patients, using either their own cells or those of a donor.
This therapy has the potential to benefit people with musclewasting
conditions, as it could encourage the growth of new
muscle fibres in damaged muscle. However, to date, no stem
cell therapy has been proven effective in treating musclewasting
conditions. There have been few clinical trials, which
have unfortunately been unsuccessful. One of the main
reasons is the difficulty in delivering these cells to the
muscle.
Researchers need to overcome several challenges before
stem cell therapy could become an approved treatment for
people with muscle-wasting conditions. These include:
• growing large volumes of stem cells in the laboratory,
without losing their regenerative properties
• finding a suitable delivery mechanism, so that the stem
cells reach all of the affected muscle
• improving the integration of stem cells into muscle
(engraftment), so that they can successfully make new
muscle cells
• preventing the body’s immune system from rejecting the
transplanted stem cells.
Transplanting a patient’s own stem cells is one way to
reduce the risk of immune rejection. However, for genetic
conditions such as muscular dystrophy, the underlying
genetic mutation would still affect these cells and they may
not function as well as stem cells from a healthy person. This
means that a combination of gene and cell therapy may be
required, by genetically correcting the stem cells in the
laboratory before transplantation.
Alternatively, researchers could use donor or embryonic stem
cells. However, as with an organ transplant, there’s a risk of
immune rejection of the introduced cells. In this situation,
there would need to be careful matching of the donor, and
the recipient may need to take immunosuppressive drugs.
On the Internet, you may come across clinics around the
world offering stem cell therapies; it’s important to remember
that almost none of these are approved. There is currently
only one stem cell therapy approved by the US Food and
Drug Administration (FDA), which targets certain blood
disorders. The European Medicines Agency (EMA) has also
approved one that helps to repair part of the eye after injury.
It is extremely important to test investigational products such
as stem cell therapies in clinical trials and for regulators to
assess them. This ensures the safety of patients, by only
using drugs or treatments that are effective.
Future research
Although there is a lot of ongoing stem cell research for
muscle-wasting conditions, there is no consensus over
which type of stem cell has the most potential as a therapy.
Researchers are investigating a number of different types of
stem cell, and each has its own pros and cons.
Satellite cells – which are found naturally inside the muscle
– might seem an obvious choice for a stem cell therapy but
there are a number of issues with them. When grown outside
the body, satellite cells lose their regenerative capacity and
so do not form large amounts of muscle when transplanted.
They also rely on the host muscle environment to function
properly, so they may only have limited effectiveness in a
dystrophic muscle.
At a recent scientific workshop in Paris, international experts
discussed cell therapy for muscle-wasting conditions, and
how to move the field forward. This important meeting was
organised and hosted by the French muscular dystrophy
association, AFM-Téléthon, with some financial contribution
from Muscular Dystrophy UK and Action Duchenne. When
the scientific report is available, detailing outcomes from the
meeting, we will write a lay summary for you.
Article from the Research section of the Muscular Dystrophy
UK website at: http://www.musculardystrophyuk.org/
progress-in-research/news/
10

Disability
Have a disabled child?
Here’s how to get SARS disability tax credits
(Reprinted from the website of parent24) By Carin Bevan
Disclaimer: This article is aimed at providing general
information only, and should not be seen as financial
or tax advice. For advice about your family’s specific
circumstances and tax claims, please consult SARS
or a tax consultant that is registered with the South
African Institute of Tax Professionals (SAIT).
If you have a child with a disability, you’ve probably
felt the pinch of those extra medical and educational
expenses. But did you know that you could deduct
some of those expenses from your tax?
Who may claim the SARS disability benefits?
In order to qualify for SARS’ disability tax credits, your
child’s condition has to meet certain criteria.
SARS sees a disability as a specific impairment that
has a significant effect (or limitation) on your daily life.
• This could be a physical, sensory (visual or hearing),
communication, intellectual, or mental impairment.
• The condition has to be long term, in other words
likely to last for more than one year.
• The condition must have been confirmed by
a relevant, registered medical practitioner.
• The condition must meet SARS’ specific minimum
criteria (found on this form).
• If the effects of the condition remain moderate to
severe even after the maximum amount of
treatment or therapy, SARS considers it a
disability. But if treatment does have some
effect, it could be seen as a physical impairment
rather than a disability. In this case, you may still
qualify for tax credits, though not to the same extent.
Let’s look at some examples. If your child was
diagnosed with Down syndrome, you don’t
automatically qualify for tax benefits. This is because
the condition in itself does not impact her daily life and
abilities. However, the physical impairments, speech
impediments or intellectual disabilities associated with
the syndrome may qualify.
Another example: if your child has a visual impairment,
but a pair of good glasses helps him function with only
mild limitations, SARS considers his condition as a
physical impairment and not a disability. But if glasses
or therapy have no effect and he still struggles to
perform basic tasks that could be a disability.
What are these benefits?
There are two parts to the tax benefits: an additional
medical expenses tax credit, and a deduction of
expenses directly related to the disability.
Additional medical expenses tax credit
There are limits to how much money taxpayers can
claim back for medical expenses. When one of your
dependents has a disability, the amount you can claim
back is higher – not just for your child with the disability,
but for the entire family. This could mean a significant
refund at the end of the tax year.
Expenses directly related to disability
You can also deduct a portion of expenses directly
related to your child’s disability from your total taxable
income.
These expenses could include salaries for
carers; training courses for parents; the purchase,
insurance and maintenance of aids and prosthetics;
alterations to your home or car to accommodate
your child’s special needs; the training and care of
service animals; specialised therapy and much more.
If your child has special educational needs, there are
a lot of possible deductible expenses. For example:
• School fees — If your child goes to a special
education school, you could deduct anything above
the amount that you would have paid for your
neighbourhood school.
• Travel costs — If the closest special education school
is more than 10 km from your home, you might be
able to claim travel expenses.
• Private tutors or facilitators — If your child needs a
facilitator, these costs could also be deducted.
SARS has published a long list of qualifying
expenses.
It’s important to remember that each child’s case is
unique, and that tax law can get very complex. Just
because something is on SARS’ list doesn’t mean you
can automatically claim it: it has to be directly relevant
to your child’s case. The opposite is also true: just
because something is not on the list doesn’t mean you
can’t claim it. You can deduct anything that SARS sees
as essential to your child’s condition.
11

How do you claim?
Step 1: Complete the form
Download form ITR-DD and take it to a registered medical
practitioner qualified to treat your child’s disability. If
you’re not sure who to speak to, ask your family doctor
or paediatrician for a referral. Do keep in mind that you
may need to pay a fee to get your form completed.
If your child’s disability is confirmed as permanent or
long term, you only need to renew this form once every
five years. If it is seen as temporary, you’ll need a new
one every year.
Keep the form in a safe place. You won’t automatically
submit it to SARS, only when it is required as part of
an audit.
Step 2: Fill in your tax form
When the next tax filing season arrives, you’ll find these
questions on your form:
“Are you, your spouse or any of your qualifying children
a person with a disability?”
“If ‘Yes’, has the disability been confirmed by a duly
registered medical practitioner as prescribed?”
If you’re confident that your paperwork is in order, tick
yes. On efiling, your form will now include the relevant
fields where you fill in your deductions.
Remember:
1. Get a tax specialist
While the process may seem straightforward, it’s not
always the case. “We are finding that SARS is becoming
more and more sticky about claims,” warns SAIT
registered tax consultant Liza Southern. A good tax
specialist can help you keep your claims relevant and
above board, make sure your paperwork’s in order, and
help you deduct expenses you otherwise wouldn’t have
thought of.
2. All paperwork must be in the tax claimer’s name
“Make sure that all medical documents (receipts and
invoices) are in the name of whoever is claiming,”
advises Liza. In other words, if you’re the one
claiming an expense, make sure the invoice is not in
your spouse’s name.
3. Keep all receipts
Keep receipts for your entire family’s out-of-pocket
medical expenses. Remember, you get the additional
medical expenses tax credit for you and all your
dependants, not just for your child with the disability!
4. Keep records
Keep a detailed record of your expenses. If you’re
going to claim travel expenses, for example, you’ll have
to keep accurate records of kilometres.
5. You may be able to claim retrospectively
This means that if you’ve had medical expenses
related to your child’s disability in previous tax years but
perhaps didn’t know about the tax benefits, you could
claim back for up to three previous years as well. But,
warns Liza, you’ll still need the ITR-DD form for those
three years, which means you’ll have to get a specialist
to fill in the form retrospectively.
Article online at: http://m.parent24.com/parent24/Family/Finance_Legal/have-a-disabled-child-heres-how-toget-sars-disability-tax-credits-20170905
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: 12 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
Botlhale Ke Katlego Trading (Pty) Ltd
Phone: 083 424 7231
Website: www.bkktrading.co.za

“Walk/run for those who can’t”
Getting active to raise funds and awareness for people living
with neuromuscular disorders
By Anri Human
What began as a casual conversation
during a breakfast run to assist
children living with neuromuscular
disorders culminated in a full-blown
fundraising project. Initiated by Anri
Human and Naomi Janse van
Rensburg and with the keen support
of the executive committee of the
Akasia Athletic Club and the club
members, the project “Walk/run for
those who can’t” was born.
Members of the Akasia Athletic Club
were asked to raise funds for the
Muscular Dystrophy Foundation
Gauteng by asking others to sponsor
them per kilometre (when running
the Bestmed Tuks race on 17
February) or to donate an amount
to this worthy cause. The MDF
is a non-profit organisation that
provides support to people
living with neuromuscular disorders,
and the MDF Gauteng branch is
responsible for members with
neuromuscular disorders in
Gauteng, North West, Mpumalanga,
Limpopo and Free State. Therefore,
the needs of these members
regarding specialised equipment
and motorised wheelchairs are
numerous, but the resources are
very limited.
Akasia club supported this as their
social responsibility project for
2018, and in the process I realised
that the club members and people
in the northern side of Pretoria have
huge hearts! The Akasia club usually
makes a donation to a selected
charity on an annual basis, and this
year the executive committee,
under the leadership of Pieter Luyt
and Tommy Breedt, decided to
donate R20 000 to MDF Gauteng.
Over and above this donation, 27
Akasia club members worked
really hard and raised an additional
amount of approximately R16 000
through sponsorships, EFT and
cash payments.
After many hours of hard work,
the day finally arrived! The Tuks
Bestmed race at the High
Performance Centre of the
University of Pretoria took place
on Saturday, 17 February. On race
day it was great seeing so many
runners wearing the blue T-shirts
with the slogan “Walk/run for those
who can’t”, with the red MDF and
green Akasia logos.
Some of the Akasia club members
ran with their club tops but with an
MDF logo pinned to the shoulder
in order to raise awareness for this
cause. Some of the children with
neuromuscular disorders, their
parents, Pieter Joubert, Robert Scott
and Mulanga Kharidzha of MDF
Gauteng joined us for the event.
Interacting with other athletes and
getting to know some of the staff
and members of MDF Gauteng,
including little Lian van Eyk and his
parents, who completed the 10 km
race, was a highlight. It was such a
joy to see Lian’s beaming face, although
his parents did most of the
hard work.
A word of thanks to the MDF
members who distributed information
leaflets and magazines on the
day to athletes and others attending
the event. Education is power, and if
we can make the public more aware
of neuromuscular disorders, the war
is halfway won. We believe that we
did raise some awareness since
other clubs also showed interest in
this fundraising event, and we trust
that the money raised can assist in
making life better for many with
neuromuscular disorders.
Thank you to each and every one
who contributed, in whichever way,
to make this day a success. No
contribution went unnoticed. These
acts of kindness reminded me of
the following words by Anne Frank:
“How wonderful it is that nobody
need wait a single moment before
starting to improve the world.”
For a small club like Akasia, with
fewer than 70 members, this was
really a wonderful achievement.
Thank you to every member of the
club who improved the world of
children living with neuromuscular
disorders. I am proud to be part
of this club and to be associated
with the wonderful people from the
MDF.
Lastly, we would like to challenge all
other running clubs to support this
initiative or to host their own events
to raise money for the MDF.

Events
Telkom 947 Cycle Challenge
Muscle Riders 2017
By Robert Scott
The morning of Sunday, 19 November 2017 had
begun. It was still dark, but we were all making
our way to the big event of the day. The time
had come to show everyone what the Muscle
Riders were made of!
This day marked a notable journey for a young
boy named Ludick Fouche, 8 years old and
affected with Duchenne muscular dystrophy. He
was to be pulled in a chariot for 94.7 km with
Angelos Frantzeskos at the helm, flanked by a
wall of other Muscle Riders. The trip was not
going to be easy, but this dynamic duo had a
spirit that could not be broken.
The Muscle Riders were ready, Angelos and
the chariot were ready, and most of all our little
champion Ludick was ready.
Everyone watched the clock, and at 8:16 am the
Muscle Riders took off!
14
We watched as they disappeared into the
distance, and then we turned our attention to
our phones, on which we could carefully track
the riders’ progress as the race went on.
At midday we made our way to the finish line to
welcome our heroes home.
Over the hill they came, including Angelos and
Ludick with the Muscle Riders surrounding
them.
Applause rang through Riversands Commercial
Park as they crossed the finish line in a time of
4 hours and 32 minutes, the very first chariot
across the line. They had done it!
We could not be more proud of the Muscle
Riders of 2017, and our hearts are full of pride
for everything that was achieved.
Thank you to all the Muscle Riders – we could
not have done it without you.

Events
15

FUNKYTOWN,
Jeffreys Bay
By Hilton Purvis
The town of Jeffreys Bay is home of the best
right-hand surf break in the world! The village lies
80 km west of Port Elizabeth midway between the
Gamtoos and Kromme rivers, and the two estuaries
of the Kabeljous and Seekoei rivers. International
surfers flock to catch the legendary waves at
surfing spots named Kitchen Window, Tubes,
Super Tubes, Point and Albatross, each possessing
its own unique magic.
In this, a paradise of sunshine, aloes, dolphins,
shells, perfect points and classic reefs, surfers
and others who found it hard to leave such an
idyllic spot have turned Jeffreys Bay into a
year-round fun place to be. Jeffreys Bay is the home
of thriving surf shops, hand-crafted leather shoes
and shell art industries. The surf culture clothing
shops are synonymous with Jeffreys, and all their
clothes depict scenes in the Bay. Jeffreys is also
the hub of the calamari industry of the Eastern Cape
and is thus in the fortunate position of being able to
supply visitors with this delicacy in abundance.
16
Gotta make a move to a town that's right for me
Town to keep me movin'
Keep me groovin' with some energy
Well, I talk about it, talk about it
Talk about it, talk about it
Talk about, talk about
Talk about movin'
Gotta move on
Won't you take me to
Funkytown
Gotta make a move to a town that's right for me
Town to keep me movin'
Keep me groovin' with some energy
Well, I talk about it, talk about it
Talk about.
Lipps Inc. in their 1979 song "Funkytown"
above might have been describing our desire
to travel and explore, or they might have been
describing the town of Jeffreys Bay. With this in mind
it comes as little surprise that one should encounter
self-catering accommodation named FunkyTown
in the middle of this rather unusual Garden Route
town. What is surprising is that FunkyTown is not
only wheelchair accessible but also furnished from
what looks like an IKEA interior decor catalogue!
Nestled within the little streets near the centre of the
town, this clean, ultramodern, minimalist establishment
offers a communal kitchen, dining and lounge
areas with an external pool deck, and, as with most
tourist businesses these days, free WiFi.
The ground-floor wheelchair accessible room
is spacious and well appointed with a small
kitchenette, work area and large, accessible en suite

athroom with a roll-in shower. Access from the
secure grassed parking area and into the building is
manageable with assistance, but once inside
everything is perfectly level and accessible.
If you are looking to explore the town of Jeffreys Bay
or require a springboard into Port Elizabeth or the
Addo Elephant National Park, FunkyTown should be
on your shortlist of accommodation enquiries.
FunkyTown, Jeffreys Bay
Cell: +27 (0)76 625 0816
Landline: +27 (0)42 293 3860
GPS: S 34.051504; E 24.921219
Website: www.funkytown.co.za
E-mail: info@funkytown.co.za
ACCESSIBLE HOLIDAY ACCOMMODATION
The following establishments offer more wheelchair accessible accommodation which has been used and
evaluated by a member of the MDF. If you have stayed at a venue and found the accommodation to be
wheelchair accessible, please let us know so that we can add it to our database.
Addo Elephant National Park
www.sanparks.co.za/parks/addo/
Cornerway House, Plettenberg Bay
info@cornerwayhouse.co.za
Excelsior Manor Guesthouse, Robertson
www.excelsior.co.za
FunkyTown, Jeffreys Bay
www.funkytown.co.za
Gubas de Hoek, Robertson
www.gubas-dehoek.com
Makaranga Garden Lodge, Kloof, Durban
www.booking.com/hotel/za/makaranga-gardenlodge.en-gb.html
Mountain Zebra National Park
www.sanparks.co.za/parks/mountain_zebra/
Rocherpan Nature Reserve
www.capenature.co.za/reserves/
Storms River Mouth
www.sanparks.co.za/parks/garden_route/camps/
storms_river/default.php
West Coast National Park
www.duinepos.co.za/
17

People
‘It was a very emotional day’
Peter Neville on volunteering at the Cambridge Town and Gown
Peter Neville, 40, from Newmarket, has Charcot-
Marie-Tooth disease (CMT). He and his partner
Tracie say that they volunteer for Muscular
Dystrophy UK at the Cambridge Town and Gown
10k run because they want to “give something back”
after receiving support from the advocacy team.
He said: “I was diagnosed with CMT in February last
year. I went to the GP with what I thought was carpal
tunnel syndrome years ago and had an operation for
it, but I carried on getting the symptoms. I got sent to
Addenbrook’s hospital for tests and then I was sent
to a neurologist, who said to me straight away that
she suspected I had CMT.
“Looking back, I had all the classic symptoms
before, but I’d never picked up on them. I was
always clumsier than everyone else as a child. The
neurologist later confirmed it was CMT.
She told me that it wasn’t life-shortening but it
was life-changing, and suggested that I speak to
Muscular Dystrophy UK straight away for help.
I called the advocacy team, who advised me to
take things one step at a time and told me what
they could do for me. They managed to get me a
neuromuscular care assistant and an occupational
therapist, which really helped.
“There has been a significant deterioration in
my condition since then. Things sped up quite
quickly over the last 12 months. I used to do a lot of
fishing and I find it much harder to do now because
my mobility is more limited. I had a manual car but
I’ve had to change it for an automatic because it was
too painful to drive.
“I stayed in contact with the advocacy team, and they
wrote to the housing association when we needed a
new place because there wasn’t enough room for a
stairlift where we were living. It’s great to have that
support there for you on the whole journey, from the
moment of diagnosis to dealing with problems that
come up later.
“My partner and I volunteered at last year’s
Cambridge Town and Gown as marshals because
we really wanted to give something back. It was a
very emotional day. There was a child participating
who was blind and was running with his carer. When
you see something like that it makes you realise how
giving people can be. I can’t run, and he can’t see,
but there he was there raising money for people that
he wanted to help.
“People could see me there in the wheelchair and I
think it made them realise how much what they were
doing was helping people like me. It was a really
good atmosphere. We’re looking forward to doing it
again this year – I’m just hoping it doesn’t rain this
time!”
Article online at: http://www.musculardystrophyuk.
org/your-stories/it-was-a-very-emotional-day-peterneville-on-volunteering-at-the-cambridge-town-andgown/
18

People
Moving Up in six questions:
An interview with Rianna Davis
Rianna Davis, 25, has Congenital muscular
dystrophy (CMD). In February 2017, after leaving
university due to difficulties with disability support,
she took part in Muscular Dystrophy UK’s work
experience project Moving Up. Rianna interned
with the Events and Campaigns teams and also
became a spokesperson for the charity, appearing
on BuzzFeed, London Live and speaking in
Westminster about her experiences.
Moving Up interviewed Rianna about her experiences
on the project:
Best part of the placement
All of it!
I’ve particularly enjoyed interacting with people and
the variety of the work. I’ve never been bored.
And the least expected?
I was given an increase in responsibility after one
staff member had time off work. It was quite a step
up and I didn’t realise how much work it is to stay on
top of everything!
Anything you’ve found challenging?
All of it! But in a good way.
When I first came here everything was out of my
comfort zone. I just went for it and asked for help
when I didn’t understand something.
How has the placement helped you with regards to
your future career?
I’m definitely more confident. I have more office
based skills like organisation skills.
Also, I’ve learnt more about disability rights and
the help and support I am entitled to. I am more
aware of something happening to me that shouldn’t
because of my disability and how to deal with it. I’ve
taken part in disability rights employment training
and understand now it’s not just me who doesn’t get
replies to applications.
Advice for someone considering the placement
Just go for it! If you get the opportunity, take up a
split placement between departments. I got to see
the fundraising side and the campaigns side.
Describe the placement in a word
Life-changing [can I say that or does it count as
two?]
Article online at: http://www.musculardystrophyuk.
org/your-stories/moving-up-in-five-questions-an-interview-with-rianna-davis/
19

People
‘I’ve always liked to keep busy
and keep moving’ – Suzanne Glover
on living with SMA Type 2
Suzanne Glover, 24, from County Down, was
diagnosed with SMA Type 2 when she was two
years old. She is a student at Ulster University,
doing a PhD that examines how carers cope with
the challenges of helping people with Duchenne
muscular dystrophy, another muscle-wasting
condition.
She said: “Having SMA is simply life as I know it.
When I was first diagnosed, my mum struggled to
lose the image of the little girl running around in a
party dress. But, over time, we met more families
with SMA and it soon became a new image. One
where a little girl, with a wheelchair called ‘whizzy’
and a fearless attitude defied every challenge.
“It turned out that I was still running around, but it
was just a different kind of running around because
I was in a wheelchair. I still caused the same amount
of havoc!
“Being diagnosed with SMA means that you have
to fight for a lot of things. You have to fight for your
independence.
“Initially, my care package for my undergraduate
degree was turned down for being too expensive
because I needed 24 hour care. It took a lot of
determination to change that, but I got there in
the end. It’s important that people know they have
to keep trying, otherwise they can miss out on
opportunities.
“At the moment I’m studying for my PhD, which
takes up a lot of my time, but I’ve always liked to
keep busy and keep moving. I’d like people to know
that the condition doesn’t affect my mind.
“I’m thankful that SMA gives me the drive to
overcome and achieve.
“The chest infections and the battles to get what I
need from health and social care are tough, but I
believe there is a true spirit that most people with
SMA carry. This spirit gives you determination, focus
and a bright personality. In my case, there’s also
mum behind me, supporting me in the direction I
want to go.”
Article online at: http://www.musculardystrophyuk.
org/your-stories/ive-always-liked-to-keep-busy-andkeep-moving-suzanne-glover-on-living-with-smatype-2/
20

People
"Don't be
limited by
your
challenges.
Challenge
your limits"
By Bernadette Francois
When I want to relax I read, listen to music and
cook. I love cooking not only because I love
good food but also because I find it relaxing and
therapeutic – so the more frustrated I am, the more
elaborate the meal!
My name is Bernadette Francois and I am differently
abled. I am a 45-year-old woman living with spinal
muscular atrophy type 2, which affects my spine
and muscles and means that I am unable to walk. I
have been living with this condition since birth.
I was blessed in that my family never saw my
disability as abnormal, which meant that I attended
“normal schools”, took part in all activities, went
camping and fishing on the rocks with my dad and
worked under cars with him in the backyard with my
very own overalls and tools. My friends also never
saw a problem with picking me up and taking me
wherever they were going and my doing whatever
they did.
I originally lived in Durban but moved to
Johannesburg over 20 years ago. The main reason
for my relocating was that in the early 1990s there
were just no employment opportunities for people
living with disabilities.
I love to learn and am always studying to upskill
myself and learn new things. I studied part-time
while working and have an Advanced Diploma in
Project and Programme Management. I would love
to complete a degree in project management.
I love working in customer service. In 1999 I started
working as a switchboard operator for Alexander
Forbes Financial Services and after a year was
promoted to frontline supervisor, managing the
reception and switchboard areas for a couple of
years. I had the opportunity to attend a management
programme and started working in the call centre
before being promoted to team leader. In 2005 I
joined STANLIB as a call centre team leader and a
year later became the assistant call centre manager.
I currently work in recruitment and will be partnering
someone in this area to start our own agency in the
near future.
I adopted my daughter when she was 3 years old
and she is now 12. She is my passion. I cannot
afford to hire a 24-hour caregiver, so my daughter
has to help me sometimes. This is frustrating for
me. I always need to have someone to assist me as
I cannot reach all the appliances.
Public transport in most areas is not accessible.
Uber is great, but because I use a motorised
wheelchair which is difficult to fold, I have to use
Ubervan, which is not cost effective and also limits
me because there are not as many vans available.
I enjoy using a motorised wheelchair, especially
in shopping malls, because I do not have to stand
in queues for lifts, at paypoints and at banks and
restaurants. More seriously, it gives me the
opportunity to show that a person with a disability
22

People
is capable of achieving whatever they set out to do.
For example, a former neighbour of mine had a
disabled son who was kept indoors and not really
allowed to do anything. One day the mom came and
told me she was so grateful for my attitude because
it had made her realise she did not need to hide her
boy from the world or be so overprotective, and he
was so much happier now that he could go outside.
My wheelchair has to be charged every day for
about eight hours. Every morning I use it to go with
my daughter to school and fetch her again every
afternoon.
People with disabilities are the same as everyone
else and should not be treated any differently. Yes,
some may need assistance or accommodation,
especially in the workplace, but once that is taken
care of we are more than capable of performing like
anyone else, or even better because we feel that we
have to prove ourselves.
My advice to other disabled people is to concentrate
on things that your disability doesn't prevent you
from doing well, and don't regret the things it
interferes with.
Wheelchair Bound
By Bernadette Francois
I was conversing with someone the other day about
a friend who is on maternity leave, the official term
for which is “confinement”. This got me thinking
about the way users of wheelchairs are sometimes
described as “wheelchair bound” or “confined to a
wheelchair”.
On the contrary, my wheelchair is an assistive
device. It does NOT define me in a limiting way.
There is no difference between what I am capable
of doing and what you are capable of doing except
that I can do it from the comfort of my wheelchair,
wearing killer heels, while others walk around complaining
about their sore feet! I can still cook, sing,
dance, swim, exercise, study, work, be a wife, be a
mom, be a friend. I am differently abled, NOT wheelchair
“bound”.
Such terms are very misleading. No wonder people
feel so sorry or “inspired” by people who use
wheelchairs. They think that it must be so HARD for
a wheelchair user to achieve anything.
10 RIGHTS VIOLATIONS
OF SA’S CHILDREN
WITH DISABILITIES
1. EDUCATION
The denial of the right to an education and an
equitable education.
2. ASSISTIVE DEVICES
The denial of the right to assistive devices.
3. EARLY CHILDHOOD DEVELOPMENT
The denial of the right to quality and equitable
ECD services.
4. MARGINALISATION
Their general marginalisation and exclusion from
mainstream society.
5. PROTECTION
Society’s failure to protect them from abuse,
neglect and exploitation.
6. EXCLUSION
Their exclusion from play, recreational, social and
cultural activities.
7. HEALTH and REHABILITATION
The denial of their right to quality and equitable
health and rehabilitative services.
8. JUSTICE
The denial of their right to access justice as the
victims of crime.
9. CULTURAL SUPERSTITIONS
Their alienation, exclusion and stigmatisation
because of cultural superstitions.
10. POVERTY
The denial of their right to be free from poverty.
Next time you want to say “wheelchair bound”, try
to think of a more positive way to describe the
situation. Try not to be confined or bound by your
words!
Good luck!
NCPD Disability Rights Violations DL Flyers March 2018.indd 1 2018/03/1
23

Research
Published: 21/02/2018
A recent preclinical study has
identified a potential therapeutic
target for Charcot Marie Tooth disease
(CMT). Although this research is in
relatively early stages, it could help to
develop a new treatment.
Our nerve cells communicate with
other cells by sending electrical signals
down their long, thin axons. Within
the axons are rod-like structures called
microtubules, which act a bit like train
tracks. They help to transport cargo,
such as proteins, mitochondria and
vesicles, up and down the nerve cell.
This process of axonal transport is
disrupted in several neurodegenerative
conditions, including some types of
CMT.
The following four articles are from the website of Muscular Dystrophy UK.
Early-stage research identifies potential treatment for CMT
The microtubules in the axon can be
modified by a number of proteins,
which can impact how well they
transport their cargoes. One of these
proteins, an enzyme called histone
deacetylase 6 (HDAC6), has been
shown to modify microtubules, leading
to impaired axonal transport.
Researchers in the lab of Prof Ludo
Van Den Bosch, KU Leuven, previously
found that inhibiting these negative
effects of HDAC6 improved axonal
transport in a mouse model of CMT2F.
In this new study, they investigated
whether this could also be beneficial to
a mouse model of CMT2D.
The researchers treated the CMT2D
mice with an HDAC6 inhibitor called
tubastatin A. They found that this stabilised
the microtubules and improved
axonal transport. This improved nerve
By Jenny Sharpe
health, resulting in greater muscle
function in the mice.
Lead author of the study, Dr Veronick
Benoy, said in a press release:
“These results suggest that disturbed
acetylation of α-tubulin may be a common
hallmark of different forms of
CMT. Moreover, we found a cellular
link between HDAC6 and the diseaseassociated
protein, indicating that
HDAC6 could be linked to CMT disease
pathogenesis and that selective inhibition
of HDAC6 with a drug could
be a beneficial treatment strategy for a
wide variety of CMT patients.”
This study was published in the
scientific journal, Brain.
Article online at: http://www.musculardystrophyuk.org/news/news/earlystage-research-identifies-potentialtreatment-for-cmt/
Orphazyme sponsors IBM trial at University College London
By Jenny Sharpe
Published: 25/01/2018
Danish biotech company, Orphazyme,
has assumed sponsorship of a phase 2/3
trial assessing the safety and efficacy of
arimoclomal for the treatment of sporadic
inclusion body myositis (sIBM).
The trial has sites at the University of
Kansas Medical Center, USA, and the
Institute of Neurology at University
College London (UCL). The UCL site
is expected to begin recruitment soon;
we will let you know when this starts.
24
MDUK’s Chair, Professor Mike Hanna,
is the principal investigator at the UCL
trial site. He said in a press release:
“Arimoclomol has strong potential
benefit in patients with this disabling
disease. We made the case quite strongly
that arimoclomol should be properly
tested in a large trial, and it is most
exciting that we have now started the
next step in the clinical development.”
The exact cause of sIBM is not fully
understood. Some research suggests
that it is partly caused by certain
proteins being folded incorrectly.
These misfolded proteins accumulate
in clumps inside the muscle, causing
inflammation and muscle damage.
Arimoclomal is an experimental drug
that enhances the cells’ ability to
re-fold proteins. This could help to clear
the toxic clumps in muscles affected by
sIBM. You can read more about arimoclomal
on Orphazyme’s website.
Article online at: http://www.musculardystrophyuk.org/news/news/orphazyme-sponsors-ibm-trial-at-universitycollege-london/

Research
Acceleron announce preliminary results from FSHD trial
By Jenny Sharpe
Published: 31/01/2018
Acceleron Pharmaceuticals has
announced preliminary results from its
phase 2 trial testing ACE-083 in adults
with facioscapulohumeral muscular
dystrophy (FSHD).
ACE-083 is a drug that inhibits a
family of proteins that negatively
regulate muscle growth (including
myostatin). This approach aims to
build muscle mass and improve muscle
strength.
The trial is split into two parts:
• Part 1 is a dose-escalation study.
This was designed to identify the
highest and safest dose of ACE-083
in adults with FSHD. Participants
were divided into three dose groups
(150mg, 200mg, 250mg), and received
injections of ACE-083 into
either the upper leg (tibialis anterior
muscle), or the upper arm (biceps
brachii muscle).
• Part 2 is a randomised, double-blind,
placebo-controlled study. This will
start once Part 1 is complete. The
best dose from Part 1 will be tested
in Part 2.
Acceleron has released data from the
150mg and 200mg dose groups in Part
1. Overall the drug was well tolerated
and no serious adverse events occurred.
Magnetic Resonance Imaging (MRI)
was used to quantify the volume of
the targeted upper leg or upper arm
muscle. This was carried out before
treatment (the baseline) and three
weeks after the last injection of ACE-
083.
The results showed that ACE-083
increased the volume of the upper
leg by an average of 12.6%, and the
upper arm by an average of 13.2%.
The amount of fat in the leg and arm
muscles also decreased.
While these results are promising, they
are based on a small number of patients
(23 in total) and there was no placebo
to compare against. We also don’t yet
know what effect ACE-083 has on
muscle strength and function. This will
be investigated in Part 2 of the study,
which is due to start in the second
quarter of 2018.
Dr Matthew Sherman, Chief Medical
Officer of Acceleron, said:
“These data support our decision to
advance to Part 2 of the Phase 2 trial,
which we expect to initiate in the
second quarter of this year. We look
forward to fully exploring functional
outcomes in the larger, placebo-controlled
Part 2 of the trial.”
Article online at: http://www.musculardystrophyuk.org/news/news/acceleron-announce-preliminary-resultsfrom-fshd-trial/
Genome editing corrects mutation in new Duchenne mouse model
By Betty Kao, Royal Holloway University
Published: 23/01/2018
US scientists have created a new
mouse model of Duchenne muscular
dystrophy (DMD) and treated it with
an improved genome editing technique.
This corrected the dystrophin gene and
protected the muscles from damage.
While the results of this preclinical
study are promising, more research is
needed before genome editing can be
tested in people with Duchenne muscular
dystrophy.
The new mouse model has a deletion
of exon 50, which is one of the most
common mutations causing DMD.
This makes it an important tool for
future DMD research. Previously, most
studies have used the mdx mouse
model, which has a different and less
common mutation.
The exon 50 deletion puts the dystrophin
gene “out of frame”. This means
that exon 49 can’t join up with exon 51,
as the ends of these two exons don’t fit
together (see below). This leads to an
incomplete, faulty dystrophin protein.
To put the gene back ‘in frame’,
Professor Eric Olsen and his team at
the Wellstone Muscular Dystrophy
Research Centre, Texas, designed a
CRISPR/Cas9 tool to make a single cut
near exon 51. This was packaged into
an adeno-associated virus (AAV) and
injected into the bloodstream of very
young mice with the exon 50 deletion.
The CRISPR treatment corrected
the dystrophin gene and increased
dystrophin production in the heart and
muscles of the mice. Different tests
showed that the muscles were healthy
and muscle strength was improved.
This demonstrates that treatment in
very early stages of the condition can
protect the muscles from damage.
When the researchers analysed the
dystrophin gene of the CRISPR-treated
mice, they found that it had been put
in frame by two different mechanisms.
One of these involved exon skipping,
where exon 51 was ‘skipped’ (you can
read more about exon skipping in our
factsheet). This resulted in a dystrophin
protein missing exons 50 and 51.
The other mechanism involved the
insertion of a particular DNA letter
(called adenosine) next to exon 51.
This allowed exon 51 to join up with
exon 49, resulting in a dystrophin
protein missing only exon 50.
No off-target effects were found,
which suggests that the Cas9
scissors were cutting the DNA in the
right place. However further research
is still needed to confirm the long-term
safety of CRISPR/Cas9 and how long
its therapeutic effect might last.
Prof Olson is the founder of Exonics
Therapeutics, which aims to develop
CRISPR/Cas9 for commercialisation.
Article online at: http://www.musculardystrophyuk.org/news/news/genomeediting-corrects-mutation-in-newduchenne-mouse-model/
25

BARRIERS AND CHALLENGES
All people, even people with disabilities, must be able
to fully participate in community life. Even though it
has much improved, people with disabilities still face
challenges when they are out and about.
Attitudinal challenges – stereotyping of people with
disabilities (e.g. Talk slowly and loudly to a person
using a wheelchair)
Physical challenges – stairs and high curbs blocks a
person with a physical disability from entering a
building

Policy challenges – work environments are not
modified to enable disabled persons to do the job they
are hired for
Social challenges – children with disabilities are
less likely to have completed mainstream schooling
compared to peers without disabilities
Transportation challenges – public
transportation may be unavailable or
at inconvenient locations

We all have those light-bulb
moments, instants when everything
becomes perfectly clear and understandable.
They are represented really
well in animated cartoons where the
on-screen character sports a most confused
look on their face, followed by the
proverbial light bulb illuminating above
their head, followed shortly thereafter
by a look which says that the proverbial
penny has dropped, everything
has fallen into place and they fully
understand what has just taken place.
I love light-bulb moments, but sadly
they are all too scarce in the wheelchair
accessibility world. I would like to see
more of them occurring, particularly in
the design offices of architects, property
developers, interior designers and
construction site managers.
We live in an era when access for the
disabled should not be an issue, yet it
continues to be so. This is largely due
to people not having an understanding
of the problem or of how to go
about rectifying it. We have people
designing and constructing buildings and
infrastructure believing that they
know what is required for disabled
access, yet the reality is that they do not
understand the nature of the problem in
the first place. Just recently I had reason
to look for accommodation in one
of our most popular East Coast seaside
resorts. I visited three self-catering
developments, all claiming to be wheelchair
accessible and all exhibiting
wheelchair access signage, yet not one
was accessible to anyone permanently
disabled.
When this anomaly was pointed out
to the owners there was no light-bulb
JUST SIT DOWN
moment. Nothing lit up. No pennies
fell into place. One owner believed
that making the front door accessible
qualified the place as disabled
friendly, whilst another had obviously
purchased a "bathroom kit" of grab rails
believing that merely bolting them
to the wall transformed the bathroom
magically into an accessible unit. They
simply did not understand what was
required. Perhaps, more disturbingly,
they were not particularly interested in
learning what was really needed. They
felt they had made an effort, and that
was enough. The reality was that the
only disabled people who could use
their accommodation would be those
who could stand and walk (albeit just
one or two steps).
Every once in a while, however, there
is a glimmer of hope. I shared in a
light-bulb moment a couple of weeks
ago. I was sitting in a supposedly
wheelchair accessible bathroom
detailing various aspects which made it
a non-wheelchair accessible bathroom.
Items such as the very decorative
designer hand basin (you know, those
currently trendy rectangular wash
trough designs), and the wall mirror
mounted at a height of more than 1.5
metres above the ground, and the hand
shower unit that was at the opposite
end of the shower to the water taps. I
was trying to describe to the gentleman
involved how inaccessible these
items were but could see that he did not
understand the issues from his
standing height of 2 metres. I then
gestured towards the plastic garden
chair which I had retrieved from the
exterior patio to use in the shower that
morning, and I asked him to "just sit
down" for a moment.
In that moment everything fell into
place. The bulb went on. The penny
dropped. I could literally see that look
on his face the moment he understood.
Suddenly the designer hand basin was
at the same level as his chin, and if he'd
wished to wash his hands he needed
to come up with some interesting arm
contortions in order to get his elbows
over the rim and hands into the basin.
Suddenly that easily visible wall mirror
was way above his head and completely
out of view. Equally the hand shower
unit and the water taps were so far apart
that when he sat on a chair he could
access one but not the other.
In fairness to the gentleman involved,
the experience must have had a
profound impact, because when we met
again over a cup of coffee the following
morning the first thing he said to me
was "just sit down"! And in an e-mail to
me a couple of weeks later he referred
to the "just sit down" moment.
It is encounters such as these which
give me hope. Hope that there are
people who have the capacity to grasp
the moment and realise what they
have been missing all along. Hope that
we might be able to reach architects,
property developers, interior designers
and construction site managers. I
feel it is important to reaffirm those
professions because they play a key role
in our inclusion in the broader society.
I would argue that they are perhaps the
most important professions impacting
on our lives, more so than the medical,
health care and technology industries.
Without an accessible environment we
go nowhere.
28

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 Friedreich’s ataxia ?
Friedreich’s ataxia (FRDA) is a disease that typically starts before the age of 25 years, but
usually between the ages of 10 and 15 years. The earliest symptoms are loss of co-ordination
with difficulty walking. Patients often notice the development of a very high foot arch. People
with FRDA also develop slurred speech, muscle weakness and visual and hearing difficulties. The weakness often results in severe
curvature of the spine (scoliosis). About two-thirds of affected individuals develop a cardiac muscle problem, termed cardiomyopathy, and about a
quarter develop diabetes.
FRDA is a genetic condition inherited in what is termed an autosomal recessive fashion. This means that an individual with FRDA has two faulty genes,
one inherited from each parent. Their parents are unaffected as they have one faulty and one normal gene, and are so-called ‘carriers’. When parents
are both carriers, each of their children has a ¼ or 25% chance of having FRDA.
The majority of FRDA patients have exactly the same genetic fault – an abnormal repeat expansion in the gene. It is thus relatively straightforward to
confirm the diagnosis.
Although there is no cure for FRDA, there are many ways to assist people living with FRDA. It is important to try to maintain mobility as long as
possible, and to prevent deformities developing with occupational therapy and physiotherapy. Scoliosis should be aggressively treated, especially as
severe scoliosis can impact on heart function. Cardiomyopathy and diabetes can be managed by appropriate specialists. Hearing and visual aids are
also available, if required.
Many therapies for FRDA are under investigation. Many are directed at trying to improve mitochondrial function, as this is severely disturbed in
FRDA. Others are trying to replace the missing protein. There have been some promising results of early trials.
Why is progress so slow on finding a cure for muscular dystrophy?
This is a question people with muscular dystrophy ask frequently. There are many reasons for this. Firstly, there are hundreds of different muscular
dystrophies, each with different characteristics and probably each requiring its own therapy. It is hoped, however, that once significant breakthroughs
are made with one type of muscular dystrophy, developments for other conditions will be achieved more quickly.
Doctor’s
In most muscular dystrophies the muscle structure has been abnormal since conception. Thus, by the time an individual presents with the disease it is
already longstanding, and significant damage or loss of cells has occurred. In addition, it is very hard to build muscle cells after we are born, so any
therapy has to be able to reach all our muscle cells and repair the damaged ones. It is unlikely that we could replace the damaged cells with new ones as
they form very complex structures. Muscle cells are not easy to reach, and each muscle cell would need to be reached separately. This is rather different
from a protein that is deficient in our blood, for example, where the tissue is accessible and the protein does not need to integrate into cell structure but
rather is in solution.
There have been some very important recent advances in therapies for muscular dystrophies.
Although these are not cures, clinical trials have demonstrably slowed disease progression.
Some of these have managed to partially correct the DNA message so that muscle cells
which previously produced only abnormal protein now produce some functional protein.
Many new developments in molecular biology offer a lot of promise regarding genetic
diseases. We can only hope that this promise will be fulfilled sooner rather than later.
29

Sandra’s thoughts on…
......Uncertainties in life
By Sandra Bredell (MSW)
Why do we not notice the good and certainty around
us when everything is going well? Why is it that we
feel paralysed by uncertainty or, put differently, by
insufficient certainty?
Certainty in life does not equal the amount of security
you have in place to protect you and your family. In fact,
nothing is equal to certainty in life, because we cannot
control what happens to us. Life is uncertain and that is
a fact. Changes are bound to happen in our life.
The only way that we can answer the above questions
is to understand where uncertainty stems from. When
we are faced with changes, we feel uncertain about
things in our life and we tend to feel we are “losing
control” over a situation. We start to feel anxious and
panicky because we fear the unknown. This takes us
back to Franklin D. Roosevelt’s famous statement that
the only thing to fear is fear itself (cited by Wallace,
2009).
So now we start to see the pattern: changes –
uncertainty – loss of control – challenges – anxiousness
and panicking – fear. Then we start to fear the
times when changes will happen, and the whole
process starts all over again. Some will refer to this
as a vicious circle, but others will be able to see the
opportunity to tap into their potential, creativity and
strength. Uncertainty is scary, but it is not all bad.
By mastering the fears that go with it, you can turn
uncertainty into a great opportunity for growth. You
might also find it interesting to read Lane Wallace’s
book, Surviving Uncertainty: Taking a Hero’s Journey
(cf. Wallace, ©2010–2015).
Let’s take the water crisis as an example. We could
dwell on all the things that may happen when we
reach Day Zero and how the country would struggle to
recover after that. Instead, we should focus our thoughts
and energy on what we can do daily, weekly and
monthly to avoid Day Zero. This way, we start to feel
more in control, although the uncertainty still exists.
Using the “Maybe” concept or approach can help
us realise that “every situation has multiple possible
outcomes” and therefore that “Maybe something else
could happen” (Carmen, 2017). This can change the
way we think and, by helping us stay in the present
moment, can put us back in the driver’s seat, so to speak.
Maybe this way of looking at situations in life can ease
some of the fears and stresses you face in your own life.
Till next time, stay in the present, focus on what you can
control, keep your faith and take care!
References
Carmen, A. 2017. A survival guide for uncertain times
#3: Positive thinking? Blog, February 10. Psychology
Today. http://www.psychologytoday.com/blog/the-giftmaybe/201702/survival-guide-uncertain-times-3-positive-thinking
Wallace, L. 2009. Surviving uncertainty – a few tips.
The Atlantic, May 22. https://www.theatlantic.com/
national/archive/2009/05/surviving-uncertainty-a-fewtips/18044/
Wallace, L. ©2010–2015. Surviving uncertainty. Lane
Wallace: Writer, Speaker, Consultant. http://www.
lanewallace.com/books/surviving-uncertainty/
30

Cape Branch
Craft Day
On 21 and 28 February 2018 we hosted craft
days for the children with muscular dystrophy.
The children got to build wooden sculptures of
dinosaurs, automobiles, motorbikes and the
Statue of Liberty. We got our creative juices
flowing and had lovely lunches from Spur and KFC.
Special thanks to Mandy and Cameron for all their
help crafting with the children, and for providing
wonderful snack goodie bags for them to take
home.
31

Cape Branch
Crossbow Marketing
Consultants Visit
Since 1988 Crossbow Marketing Consultants
(Pty) Ltd has been assisting us to raise funds
by designing, manufacturing, marketing and
selling various products for and on behalf of
the MDF. The income generated by them
allows us to work towards the goals of our
organisation. We truly see this partnership as
essential to our survival.
As a token of appreciation, we took cupcakes
on Valentine’s day to the Steenberg and
Milnerton office of Crossbow to thank all staff
for their hard work and dedication.
Pictured right: Lee Leith, showing
appreciation from MDF Cape branch.
Buckets of Love
The Catholic Association has a 20-year history of supplying meals to those in need over the December period.
The children with muscular dystrophy received these beautiful “Buckets of Love” to share with their families
over the festive season.
We would like to thank the Catholic Association for their support.
32

Cape Branch
Valentines Social
This year our adult support group got together to
celebrate the month of love. Thank you to everyone
who joined this lovely social gathering. It was lovely to
share stories about the festive season and celebrate
the new year with you over a cup of coffee. It was with
this lovely gathering that our 2018 Adult Support Group
programme was launched.
Pictured: Sanjay Narshi
Fun at the
Iziko Museum
To end 2017 off with a bang we celebrated
with the Duchenne boys by taking them
to the Iziko Museum in Cape Town. The
morning was filled exploring the fantastic
and awe-inspiring exhibitions of skeletal
remains of a number of different animals,
even including dinosaurs! We were spoilt
with goodie bags from Gift of the Givers,
and each child got to take one home with
them when the day was done.
Members who passed away
It is with great sadness that we bid farewell to Mr Shaun Joon. Our sincere condolences to his family.
We will dearly miss this beautifully determined and kind gentleman, who led by shining example on how
to persevere through difficult circumstances in a kind-hearted manner.
It’s always too soon to say goodbye. It is with very heavy hearts that we say goodbye to Mr Craig
Thomson. Our sincere condolences to his family. We loved to see his gentle smile at our Adult Support
Group outings. All our love and wishes to Craig’s parents, James and Merle.
Our deepest condolences to the Burton family on the passing of their son, Mogamat Noor. Noor’s
gentle patience and warm smile will always be remembered. Your family is in our thoughts.
33

Gauteng Branch
Muscle Riders
appreciation function
By Robert Scott
The annual Muscle Riders appreciation function was
held on Saturday, 18 November 2017 at Crawford
College Lonehill.
The day saw the Muscle Riders from far and wide
converge to meet one another, collect their race packs
and of course the famous Muscle Riders cycle jersey.
Thank you to each and every person who
supported the 2017 cause and all the cyclists who chose
to join the Muscle Riders Team.
Thank you to Jason Greer, the official MDF Gauteng ambassador, who was master of ceremonies for the
day, and Dee-Ann Kaaijk from Strike A Pose photography, who agreed to capture the event with some
incredible photographs.
Thank you to the children who took part in the annual
Kiddies Ride on Saturday, 11 November. They also raised
funds for children in need of motorised wheelchairs and had
amazing fun doing it.
The little heroes were Cayden Fourie (aged 5), Ava Rudman
(5), Quintin Fouche (5), Juanru Roodt (4), Beth Van Til (3)
and Dante Fourie (2).
Thank you to our generous sponsors: Mitsubishi Electric,
Spoormaker & Partners, Cool Tech (Pty) Ltd, Eskort Ltd
Princess Crossing, Tru Juice (Pty) Ltd, Paarman Foods,
CE Mobility, John Leamy Insurance, SuperSpar Florida
Junction, and Hollywood Costumes.
Lastly, thank you to Crawford College Lonehill and all the
volunteers who helped make the day an amazing success!
34

Gauteng Branch
Blue Bottle Group
MDF Gauteng wishes to express our deep gratitude
and thanks to the Blue Bottle Group.
As part of the Telkom 947 cycle challenge, their
cycle team wore the Muscle Riders logo on their
team kit.
On Monday, 15 January 2018 Pieter Joubert and
Robert Scott received the donation of R25,014 and
there were smiles all around. Thank you Blue Bottle
for your continued support and kindness towards
the Foundation. It means the world to all of us.
Pictured: From left to right, Robert Scott,
Pieter Joubert and Jose Nascimento
Annual WCCS UJ Golf Day
On 8 March 2018 the Annual WCCS UJ Golf Day was held at Jackal
Creek Golf Course. Funds raised will be used to host the annual
World Congress of Chiropractic Students in Sandton. We will receive
a percentage of profit from the chiropractic golf day. We would like
to thank Chase Batty and other students from the University of
Johannesburg for all their hard work with the golf day. This is the
seventh year that we are a beneficiary of fundraising and wish to
thank the WCCS UJ Chapter for caring and their continued support.
Pictured: Ashley Kupfer, Devlin Randal-Smith
& Micah Kupfer
Pictured: Chase Batty, Robert Scott
& Ami-Lee Verwey
35

Gauteng Branch
Tshepo Mahlosi, a
very happy boy
Tshepo Mahlosi, who is 12 years
old and affected with Duchenne
muscular dystrophy, received
his new motorised wheelchair on
Sunday, 11 February 2018. The
Muscle Riders were proud to see
all the hard work pay off, and
Tshepo is looking forward to many
happy years with his newfound
independence.
Thank You!
My name is Mzwandile du Plessis, from Katlehong. I
would like to thank the Muscular Dystrophy Foundation
Gauteng for the new motorised wheelchair. I am very happy
and wish to thank them for assisting me.
Yours sincerely
Mzwandile du Plessis
36
Clara Moloi says thank you
Muscular dystrophy is a very difficult disease to live with, especially when we keep growing up and it keeps
getting worse. I was born with the type of muscular dystrophy called myotubular myopathy. I’m now in my
mid-thirties and the progression of the disease worsens by the day.
I have short breath and I can’t digest food well due to the deformation of the spine.
Having the Muscular Dystrophy Foundation is a blessing from God. I asked for a cushion from the Foundation
and they referred me to CE Mobility to be assessed for the correct one. The occupational therapist there by
the name of Kat realised that my sitting position was one of the causes of my deformation, and she decided
that we should try a new backrest that has support on the sides to help me to sit up straight and that will
assist with breathing and digesting. The MDF helped with the purchase of the backrest and now I’m sitting up
straight, a little better than with the normal backrest, and I’m able to burp without being assisted (like a baby).
Even though I’m not used to sitting straight and it’s painful, I believe that I won’t be using my nebuliser for a
while. Thank you very much MDF Gauteng Branch.
Yours sincerely
Clara Moloi

Gauteng Branch
Make Today Count
Tandem Skydiving 2018
Adventure Skydives in Deneysville offers skydiving
with a difference – the fast speed at which you rush
towards the ground due to the thin air in the
Highveld. In the tandem jump, after a quick briefing,
you are good to go, attached to an instructor with a
special harness for two.
A tandem jump will cost you R2,600 and you will also receive a DVD that contains a video and photos taken of
your jump.
Date : Saturday, 18 August 2018 and Sunday, 19 August 2018
Where : Leeukop Farm Airfield, Deneysville (on the Vaal)
Bookings can be made through Robert Scott via email: mdfgauteng@mdsa.org.za
Muscular Dystrophy Workshop
The Muscular Dystrophy Foundation Gauteng is pleased to announce that we will be hosting a
workshop about caring for persons with muscular dystrophy, the handling of them, stretching exercises by a
physiotherapist, and the importance of education by an educational psychologist.
Parents of children and persons affected with any type of muscular dystrophy are encouraged to attend.
Speakers: Mrs Kerrie Austin (Physiotherapist), Mrs Antoinette Human (Psychologist - Education)
The workshop will be conducted, free of charge, on Saturday, 1 September 2018 (venue will be confirmed).
To make a booking, please contact MDF Gauteng before Friday, 17 August by phone on 011 472-9824
or by e-mail at mdfgauteng@mdsa.org.za.
Muscle Riders 2018
(Ride For A Purpose – ride for those who can’t)
This is the seventh year that we will be participating in the Telkom 947
Cycle Challenge. The cycle challenge will take place on Sunday,
18 November 2018 at Riversands Commercial Park. Our Muscle
Riders 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
they are.
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.
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 event a success, please let us know so that
we can provide you with further information.
37

KZN Branch
Updating of information
for Muscular Dystrophy
Foundation KZN Branch
Dear Members
In order to ensure that the Muscular Dystrophy
Foundation database contains updated and
accurate information, we request that you
notify the KZN Branch immediately of any
changes to information provided, by contacting
the KZN Branch directly, either by phone (031
332 0211) or by email (accountskzn@mdsa.
org.za), so that your information can be
updated accordingly.
Thank you in advance for your assistance and
support.
9 DISABILITY
RIGHTS VIOLATIONS
1. EXCLUSION FROM EMPLOYMENT
Widespread discrimination means that 7.5% of South
Africans who have a disability do not participate in
the economy.
2. INEQUALITIES IN EDUCATION
Unequal education opportunities condemn 1000s of
persons with disabilities to poverty and deprivation.
3. DENIAL OF REASONABLE ACCOMMODATION
Equitable measures to support the participation of
persons with disabilities in society on an equal basis
with non-disable people are ignored.
4. INACCESSIBILITY
Accommodation, buildings, services, information
programmes, communication remain inaccessible.
5. NON-PROVISION OF ASSISTIVE DEVICES
Assistive devices are essential for living ans accessing
fundamental rights and freedoms including the right to
communication, mobility, education.
6. MARGINILISATION BY SOCIETY
Attitudinal barriers in society disable persons
with impairments.
The Muscular Dystrophy Foundation
of SA would like to thank the National
Lotteries Commission for their support.
7. STIGMA IN CULTURAL BELIEFS
Disability is seen as a curse in some cultures and the
related stigma forces families to hide their relative with
a disability.
8. PREVALENCE OF DISABLISM
Prejudices towards, and stereotype about, disability
and persons with disabilities are prevalent in society
which results in disability discrimination.
9. INACCESSIBILITY TO JUSTICE SYSTEMS
Persons with disabilities are more vulnerable to
neglect, abuse, and exploitation and are unable to
access justice due to disablism.
NCPD Disability Rights Violations DL Flyers March 2018.indd 2 2018/03/14 8:37:
38

Stockists of all the leading import power brands

SOMEONE I LOVE
Needs a Cure
Please Support
MUSCULAR DYSTROPHY
AWARENESS & RESEARCH
WE NEVER GIVE UP HOPE
Contact us for further information:
The term muscular dystrophy (MD) describes a disorder
that affects the muscles, resulting in progressive
wasting and weakness of the muscle. Symptoms may
appear at birth, in early childhood, or later in life.
Neuromuscular disorders affect not only the muscles
but also the nervous system.
Individuals of either sex and all ages
and ethnic backgrounds can be
affected by MD.
NATIONAL OFFICE
Tel: 011 472-9703
E-mail: national@mdsa.org.za
Website: www.mdsa.org.za
CAPE BRANCH
(Western Cape, Northern Cape & part of Eastern Cape)
Tel: 021 592-7306
E-mail: cape@mdsa.org.za
GAUTENG BRANCH
(Gauteng, Free State, Mpumalanga, Limpopo & North
West)
Tel: 011 472-9824
E-mail: gauteng@mdsa.org.za
KZN BRANCH
(KZN & part of Eastern Cape)
Tel: 031 332-0211
E-mail: kzn@mdsa.org.za