Summer Issue 54
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A little boy with big dreams
“Oomies se Road Trip”
Just live! So says
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05 MDF notice board
06 National news
07 MD information
26 Health news
07 Congenital muscular dystrophy
10 Emergency alert cards
14 Make Today Count Tandem Skydiving 2017
15 Muscular dystrophy awareness run
15 “Oomies se road trip”
16 Just live! So says Anne-Marie
18 Iman Casoojee
20 Tribute feature: Patrick John Artman
21 Ride London: Barbara’s story
22 Exondys 51: the Roe family’s story
23 Ella and her ‘cheeky feet’
28 The View from Down Here
29 Doctor’s corner
30 Sandra’s thoughts on …
24 Dystrophin mutation in Duchenne mouse model
25 Myotubular myopathy gene therapy trial
25 Bone health in people with FSHD
C O N T E N T S
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
Managing Editor: Pieter Joubert
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Printer: Qualimark Printing
Cover photo of Ludick Fouche courtesy
of Angelos Frantzeskos.
(Deadline: 2 March 2018)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profi t organisation that supports
people affected by muscular dystrophy and
neuromuscular disorders and that endeavours to
improve the quality of life of its members.
I was diagnosed with FSHD in my early twenties and have been using a wheelchair
for 16 years. It was difficult to accept in the beginning but after a while you
realise that you cannot change anything and a wheelchair makes a huge difference.
It takes a lot of energy to shower, get dressed, eat, move around. I don’t
complain, as there are many people in worse situations than I am. I try to do as
much every day as I can. l try to stay positive and see the other blessings in my
life, but it's hard not to wonder “what if...?” or “why did this happen to me?” It's
a slowly progressing disease, but it's a very traumatising, suffocating disease
at the same time.
When I was diagnosed the only thing I thought of was the possibility that researchers
would soon fi nd a cure. As time went by I realised this was not going
to happen, but I still pray and believe that a cure will be found in the near
I did not want to meet other people, but after I was invited to a meeting by Tina de Vente, who was
working at the MDF offices at the time, I decided to meet with other affected members. After meeting parents
of children diagnosed with Duchenne muscular dystrophy, my outlook changed. I realised it was selfi sh of me
to think a cure should be found for my own condition and not to be as concerned about all the other conditions
I realised there were many people and families who needed help and the foundation should include and reach
out to everybody affected by muscle diseases. Over the years I have met and become friends with many affected
people and families. Families affected by muscle-wasting conditions are experts in what it means to live
with these different conditions, and it is important that they share information and support each other.
In this issue you will read of personal stories and awareness events. As usual you will also fi nd MD information
and research articles.
Thank you to everybody who has supported our foundation over the years. For those who are able to make
donations, we thank you from the bottom of our hearts.
Warmest greetings of the season, and best wishes for good health and happiness in 2018.
Until next year!
Subscription and contributions to
We publish three issues of MDF Magazine
a year and you can subscribe online
to the magazine or by calling your nearest
If you have any feedback on our publications,
please contact the National Office
by email at firstname.lastname@example.org
or call 011 472-9703.
Get all the latest news on the fight
against muscle-wasting conditions and
the latest research updates. It is our editorial
policy to report on developments
regarding the different types of dystrophy
but we do not thereby endorse any
of the drugs, procedures or treatments
discussed. Please consult with your own
physician about any medical interventions.
If you are interested in sharing your inspirational
stories, please let us know
and we’ll be in touch to discuss this
with you.The Foundation would love
to hear from affected members, friends,
family, doctors, researchers or anyone
interested in contributing to the magazine.
Articles may be edited for space
MDF SA database
If you know people affected by muscular
dystrophy or neuromuscular disorders
who are not members, please
ask them to contact us so that we can
register them on our database. If we do
not have your current e-mail and postal
address, please contact your branch so
that we can update your details on our
How can you help?
Branches are responsible for doing their
own fundraising to assist members with
specialised equipment. Contact your
nearest branch of the Muscular Dystrophy
Foundation of South Africa to find
out how you can help with fundraising
events for those affected with muscular
Crossbow Marketing Consultants (Pty)
Ltd are doing invaluable work through
the selling of annual forward planners.
These products can be ordered from
Crossbow on 021 700-6500. For enquiries
contact National Office by email at
email@example.com or call 011 472-
MDF support information
For more information about the Muscular Dystrophy Foundation, the benefits of
being a member and details on how to become a member, call your nearest branch.
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
Banking details: Nedbank, current
account no. 2011007631
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
Banking details: Nedbank, current
account no. 1958323284
branch code 192841
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
KZN BRANCH (KZN & part of
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Banking details: Nedbank, current
account no. 1069431362
branch code 198765
General MD Information
Tel: 021 794-5737
Tel: 011 472-9824
General Support Group Gauteng
Cell: 082 499 9384
Win van der Berg (Support Group)
Tel: 021 557-1423
Tel: 021 671-8702
Maxine Strydom (Support Group)
Tel: 031 762-1592
Cell: 083 290 6695
Jan Ferreira (Support Group – Pretoria)
Tel: 012 998-0251
Tel: 012 667-6806
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Cell: 084 581 0566
Tel: 012 664-3651
Cell: 083 66 66 270
Friedreich Ataxia (FA)
Cell no: 084 405 1169
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Tel: 011 640-1531
Tel: 017 683-0287
Spinal Muscular Atrophy (Adult
Tel: 012 331-3061
What’s stopping you?
By Gerda Brown
Muscular dystrophy is physically destructive, but challenges can be greatly alleviated
with assistive devices, support aids, surgery, physiotherapy, etc. It is the psychological
and emotional issues related to physical disability that cause the main challenges. When
people receive a diagnosis of muscular dystrophy, many adjust to it healthily and cope
well but others do not. Feelings of hopelessness, social isolation, frustration and depression
are all very common. The emotional wellbeing of a disabled person is incredibly
important. Several types of interventions may be implemented to achieve wellness, such
as therapy, counselling, support, etc.
Many times, when we hear the word “support”, our minds go straight to formal programmes or services. This is, however,
not always what support means. Support sources can provide assistance in day-to-day needs, provide much needed information,
and provide comfort and assurance that you are not alone.
It is with this in mind that MDFSA created a private social group for adults who share the bond of muscular dystrophy. The
support group is based on Facebook and currently has 29 members. Facebook calls it a secret group, and only members will
be able to view the content so as to ensure privacy and confidentiality.
One of our members put it so eloquently: “It's amazing what beautiful difference little support can make, even just a few
encouraging words from someone who cares. It makes your struggle less difficult but no support makes you feel like you
left behind. So let's support each other, in deed, word and prayers.”
If you would like to join us on the group, please leave a message on the Muscular Dystrophy Foundation of South Africa
Facebook page. I will gladly add you as a member. I look forward to chatting to you soon.
Did you know?
Alfredo Ferrari (1932-1956) was an Italian automotive
engineer and the first son of automaker
Enzo Ferrari. Alfredo was nicknamed Dino. He had
Duchenne muscular dystrophy and died at the age
of 24. After his death the Ferrari ‘Dino’ was fitted
with the engine that Alfredo was working on and
Enzo Ferrari named the car in honour of his son.
From an early age Enzo groomed Alfredo to be
his successor. Alfredo studied economics in
Bologna before moving to mechanical engineering
in Switzerland. Over time, it became clear that
something was wrong. Doctors had no idea what
was afflicting him and he only managed to complete
two years of his engineering education before
returning to Modena.
In his short career at Ferrari, Alfredo was credited
for the 750 Monza racing car and to a limited
extent a 1.5-litre V6 that would later see action in
Ferrari’s early Formula racers. Alfredo suggested to
his father the development of a 1.5 L DOHC V6 engine
for F2 at the end of 1955. Twelve years later,
to honour his son, Enzo named the Dino series of
road and racing Ferraris using this V-6 engine after
Alfredo had Duchenne muscular dystrophy. In the
final days of his life, while hospitalized, he discussed
technical details of the 1.5-litre V6 with
fellow engineer Vittorio Jano. Alfredo would never
see the engine, he died in Modena on 30 June 1956
at the age of 24. ...
The Autodromo Dino Ferrari in Italy is also named
in Alfredo’s honour, with his father’s name added
after Enzo Ferrari’s death in 1988.
Article from the website of Concours D’Élégance,
Paleis Het Loo, at: http://www.concourselegance.
Muscular Dystrophy Association, America
Congenital Muscular Dystrophy
What is congenital muscular dystrophy
Congenital muscular dystrophy (CMD) refers to a group of
muscular dystrophies that become apparent at or near birth.
Muscular dystrophies in general are genetic, degenerative
diseases primarily affecting voluntary muscles. Babies with
congenital muscular dystrophy are weak at birth and may
have breathing or swallowing difficulties.
Types of Congenital MD
At least 30 different types of CMD are now recognized. At
first glance, the various types of CMD seem to have little in
common other than their early onset. But on the molecular
level, the types can be grouped by how their faulty protein
A very small group of CMDs are linked to proteins that affect
what happens inside muscle fibers, affecting how the fibers
process signals from the nervous system, for example, or
how they handle calcium.
But the vast majority of CMD types are related to proteins
that make up or interact with the extracellular matrix that surrounds
Several types of CMD that arise from gene mutations that
initially seemed unrelated now appear to be related to defects
in proteins that "sugar-coat" (glycosylate) a matrix protein,
allowing it to connect with other proteins.
The extracellular – outside the cell – matrix is the substance
that surrounds the cells of a tissue, such as muscle, providing
physical and biochemical support.
An important role of the matrix around muscle fibers is force
transmission. For a muscle to pull against bones, it needs to
have contact with something that transmits force from the
muscle fibers onto the tendons and bones. When all is going
well, the matrix transmits that force, as well as chemical signals
that muscles need to stay healthy.
The matrix is a key supporting structure for the survival and
regeneration of muscle. When cells lose touch with their surrounding
matrix – as happens in most types of CMD – trouble
Signs and Symptoms
CMD can cause contractures in the wrists, ankles and other
The term congenital muscular dystrophy (CMD) is actually
the name for a group of muscular dystrophies united by the
fact that muscle weakness begins in infancy or very early
childhood (typically before age 2). Congenital diseases are
those in which the symptoms are present at or soon after
Most children with CMD exhibit some progressive muscle
weakness, although they can have different symptoms, degrees
of severity and rates of progression.
This weakness, usually first identified as hypotonia, or lack
of muscle tone, can make an infant seem “floppy.” Later,
infants and toddlers may be slow to meet motor milestones
such as rolling over, sitting up or walking, or may not meet
some milestones at all.
Some of the rarer forms of CMD are also accompanied by
significant learning disabilities, or mental retardation.
What causes congenital muscular dystrophy
It isn’t known why the CMDs cause muscle weakness earlier
than other types of muscular dystrophy. One possibility is
that the muscle proteins affected in CMD are required early
in the development of an infant’s muscle, while muscle proteins
linked to other muscular dystrophies don’t become important
until the muscles begin to get a lot of use as a child
It’s important to note that just because the muscle weakness
in CMD starts earlier, CMD isn’t automatically more severe
than other forms of muscular dystrophy. The degree and
rate of progression of muscle weakness varies with different
forms of CMD and from one child to the next.
In the mid-1990s, researchers found that a deficiency of a
protein then called merosin and now more often called laminin
211 was the underlying cause of at least some cases of
CMD. Merosin normally anchors muscle cells to a structure
that encases them (like the skin on a hot dog) called the basal
Doctors began to classify CMD as either "merosin-deficient"
or “merosin-positive.” The gene for merosin is on chromosome
As the 20th century ended, researchers began to suspect that
Ullrich’s disease, now known as Ullrich CMD, was caused
by a lack of collagen 6, a ropelike protein located in the area
where laminin 211 is found.
Collagen 6, which helps support the muscle fiber, probably
affects muscle cells via its connection to laminin 211. Laminin
211, in turn, connects to muscle cells via either of two
other proteins: integrin or dystroglycan.
Dystroglycan links the outer surface of muscle cells with
structures outside them via branches, made of sugar molecules,
that protrude from its surface and stick to laminin.
The branch structure helps explain why mutations in so many
diverse genes all appear to cause CMD. Each of these proteins
contributes in a different way to the process of “sugar-coating”
(glycosylating) dystroglycan. Several forms of
CMD — such as Fukuyama CMD, Santavuori muscle-eyebrain
disease and Walker-Warburg syndrome — arise from
defects in these glycosylation proteins.
The illustration below shows the physical relationships
among these proteins.
What are the inheritance patterns in CMD?
The CMDs are caused by genetic defects that affect important
muscle proteins. Most forms of CMD are inherited in an autosomal
In brief, if a disease is recessive, two copies of the defective
gene (one from each parent) are required to produce the
disease. Each parent would be a carrier of the gene flaw but
wouldn’t usually have the disease.
If a disease is dominant, then only one copy of the genetic
defect is needed to cause the disease. Anyone with the gene
flaw will have disease symptoms and can pass the disorder
Many times, MD appears to have occurred “out of the blue,”
but in reality, one or both parents may be carriers, unknowingly
harboring the genetic mutation. Many parents have no
idea they’re carriers of a disease until they have a child who
has the disease.
The physician should meet with the family of a child with a
clinical diagnosis of CMD as soon as possible, even before a
specific genetic diagnosis is made. The first meeting with the
family should include the following five components: diagnosis,
prognosis, recurrence risk (if known), treatment plan,
and family support and community resources.
The treatment plan should introduce a multidisciplinary approach
and include pulmonologists, cardiologists, ophthalmologists,
physiotherapists, orthopedists, possibly others,
and ideally, a palliative care specialist to optimize quality of
A follow-up visit with a genetic counselor may be in order,
but since 50 percent of children with CMD may not have a
specific genetic diagnosis, supportive care should take place
regardless of whether or not a specific genetic diagnosis is
Cardiac (heart) care
Some types of CMD, such as merosin-deficient CMD, are
associated with severe cardiac complications. Cardiac investigations
should be systematically performed during followup
examinations, the frequency of which is dependent on the
type of CMD and the level of cardiac involvement. Cardiac
symptoms sometimes are atypical, especially in younger patients,
and can start late in the course of the disease.
Many forms of congenital muscular dystrophy stem from
loss of firm connections between muscle fibers and their surroundings
Since severe heart arrhythmia can lead to sudden death,
implantation of a defibrillator should be considered.
Gastrointestinal, nutritional and oral care
Feeding and swallowing difficulties are significant problems
in some types of CMD. Individuals with this problem should
be observed and evaluated by a qualified specialist, using a
video-fluoroscopic swallow assessment, if possible.
Recommendations for the treatment and management of
feeding problems include adaptations to positioning and seating,
supports for self-feeding, safe swallowing techniques
and food texture modification.
If these recommendations are insufficient, gastrostomy tube
feeding should be considered.
Muscle weakness and facial malformation can lead to speech
problems in some people with CMD. There is no evidence
that oral motor therapy and exercises help improve speech,
but they may help resolve feeding problems.
Specially adapted computers can help children with vision
Problems related to congenital brain malformation, which
occurs in some forms of CMD, include intellectual disability,
behavioral and learning problems, autistic features, emotional
problems, seizures and vision problems.
Orthopedics and rehabilitation
Orthopedic symptoms, such as joint contractures, scoliosis,
foot and spine deformities, rigid spine, hip dislocation and
joint hypermobility are some of the most common aspects
A conservative and preventive approach to orthopedic symptoms
is recommended. Regular stretching, maintaining proper
positioning and environmental supports such as braces and
orthotics are generally favored over surgical interventions.
Although spinal surgery has been shown to improve the quality
of life of older children with progressive spinal deformity,
great care should be taken to minimize the risks of surgical
intervention; postoperative, multidisciplinary care is essential.
Physical therapy is important in maintaining range of motion
and reducing contractures. Palliative care seeks to incorporate
the emotional, spiritual, developmental and physical aspects
of caring for a person with a life-threatening disease. It
is a comprehensive and multidisciplinary model that benefits
patients, caregivers and practitioners as they seek to maximize
the life span and well-being of the person with CMD.
Problems that can be addressed through palliative care include
fatigue, pain, depression, anger, anxiety, and other
mental and emotional difficulties.
All types of CMD can lead to the development of respiratory
failure, and in some types, breathing problems may be severe
from birth. A proactive approach is favoured because breathing
problems can be present before they become noticeable.
Weak crying, ineffective cough, choking on feedings, weight
loss and repeated infections all can be signs of respiratory
distress, even though, because of motor weakness, typical
signs like breathlessness may not be present.
Aggressive treatment of acute respiratory tract infections is
particularly important, as these infections are the most common
cause of hospital admissions and death in people with
Research in the congenital muscular dystrophies centers
around understanding the molecular processes that lead to
muscle loss in these disorders and experimenting with methods
to counteract these processes.
Among the approaches being tried in laboratory rodents is
gene addition (insertion of new genes, sometimes called gene
therapy or gene transfer), either to directly supply the missing
protein or to supply proteins that can help compensate for
a missing or abnormal protein.
A variant on this theme is blocking the activity of harmful
genes, which is also being tried in lab models of CMD.
An important component of MDA research in CMD is understanding
early-stage muscle development in normal and
abnormal situations, so that this knowledge can be applied to
fixing what goes wrong with muscle development in CMD.
This type of understanding could also lead to the use of stem
cells as a treatment for CMD.
Another theme in CMD research is the need to fully understand
the process of glycosylation of proteins, such asalphadystroglycan,
in the muscle-fiber membrane. Glycosylation
of a protein means the addition of sugar molecules to the protein,
which changes the way the protein interacts with other
substances. Alpha-dystroglycan is not sufficiently glycosylated
in several forms of CMD, so understanding and correcting
this process is a promising avenue for treatment of these
Article online at: https://www.mda.org/disease/congenitalmuscular-dystrophy
EMERGENCY ALERT CARDS
Muscular Dystrophy UK
Muscular Dystrophy UK has created condition-specific alert cards for different muscle-wasting conditions.
These new cards mean that people living with muscle-wasting conditions and their families will have the security of knowing
they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults
with these conditions.
Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that a nonspecialist
clinician would need to know during a time of worsening health. To make sure the cards are effective, they cover a
wide range of possible symptoms and situations. The card also includes important contact information on a person’s specialist
neuromuscular and respiratory teams, which will ensure that expert advice will be much easier to access.
Alert card information on the following four muscle-wasting conditions is reprinted with the permission of Muscular
Dystrophy UK and appears on the website of the MDF Gauteng.
► If ambulatory: Ask if internal fixation/surgery rather
than casting may be possible. Surgery may help preserve
► If your child has had a fall or a leg injury and has rapid
onset shortness of breath or difficulty breathing and
changes in alertness (confusion, agitation, disorientation):
This is an emergency. Go immediately to the ER
and alert staff that symptoms could be due to Fat Embolism
► Risk: Respiratory failure. Please only give oxygen with
close monitoring of CO2 levels; breathing may need to
be supported (with BiPAP, for example).
► If oxygen levels are low, assisted coughing (with cough
assist machine or Amby bag) may help.
► Take your equipment (cough assist, BiPAP, etc.) with
you to the hospital/emergency room (ER); alert your
neuromuscular team that you are going to ER/hospital.
GENERAL RECOMMENDATIONS AND
► Keep immunisations up to date and get influenza vaccine
► People taking daily, long-term steroids should avoid
Emergency information – for parents of boys with
Duchenne MD (Parent Project Muscular Dystrophy)
Becker muscular dystrophy is a progressive, inherited condition
characterised by progressive muscle-wasting and weakness,
affecting mostly the proximal lower and upper limb
muscles. Symptoms and severity of the condition can vary
from one person to another.
Becker muscular dystrophy
live vaccines when possible.
► Always wear seat belts – in the car AND on the wheelchair/scooter.
► Avoid inhaled anaesthesia.
► IV anaesthesia is considered to be safe (with close monitoring).
► People with Duchenne should NOT receive succinylcholine.
► Local anaesthetics and nitrous oxide are safe for minor
IF VOMITING AND/OR UNABLE TO TAKE DAILY
CORTICOSTEROIDS FOR 24 HOURS:
► Go to a hospital emergency room; bring the PJ Nicholoff
Steroid Protocol (ParentProjectMD.org/PJ).
► Request substitute IV corticosteroid until oral medications
are tolerated (6 mg of deflazacort equals 5 mg
► Remind clinicals that high liver enzymes (AST/ALT)
are normal for people with Duchenne MD.
Patients usually have difficulties in walking and climbing
stairs. They may present with frequent falls and may become
non-ambulant as the condition progresses. Patients may also
have difficulty raising their arms above their shoulders, as the
Fatigue and pain can occur after mild exercise and in walking.
Paraspinal muscles are also affected and patients can develop
scoliosis (curvature of the spine) and lower back pain.
NOTE: Liver enzymes (AST/ALT) will be high on blood
tests; this is normal in Becker muscular dystrophy and is attributed
to muscle break-down. This should not prompt liver
investigations unless otherwise indicated.
Recommendations and precautions
► Immunisations should be kept up-to-date. Do not use
live vaccines if using corticosteroids.
► Wear seat belt when using wheelchair to avoid dangerous
► Wear a medic alert bracelet.
Anaesthetic precautions (continued)
► Use intravenous general anaesthetics only (avoid suxamethonium).
Inhaled anaesthetics should not be used.
► Local anaesthetics and nitrous oxide are safe, e.g.
for minor dental procedures.
► Patients with Becker muscular dystrophy can develop
cardiomyopathy. Those with lesser muscle symptoms
are at risk of severe heart involvement. All need regular
► Early ACE-inhibitor and beta-blocker usage slows the
Congenital muscular dystrophy (CMD) is a neuromuscular
condition caused by genetic mutations that lead to a lack of
various proteins vital for healthy muscle structure or function.
► Symptoms in small babies include hypotonia (floppiness)
and low muscle tone. Contractures (tightness) in
the hip, ankle, knee and elbow joints are common.
► In children that do not have contractures, initial problems
may be difficulties holding the head, and delays
in sitting and walking.
► Some forms of CMD can have associated brain changes
on a magnetic resonance imaging (MRI) scan.
► Some children with CMD and brain changes visible on
an MRI scan may have learning difficulties with or without
► Respiratory failure in CMD may present without the
usual signs of respiratory distress. Always consider
underlying respiratory failure.
► If presenting with respiratory symptoms or oxygen
need, measure SpO2 in air and CO2 (transcutaneous,
end-tidal or blood gas).
► Titrate oxygen therapy to achieve SpO2 94-98% and
► If CO2 is raised, consider early initiation of mask ventilation.
► Manage respiratory infections with chest physiotherapy,
and consider use of nebulised saline and in-exsufflator
(cough assist device).
► For hypersecretion, consider use of glycopyrrolate
40-100 micrograms/kg oral max 2mg six-hourly (use IV
solution 200 mcg/ml) or oral atropine drops.
progress of cardiomyopathy.
► Heart failure symptoms will be subtle/absent in those
with greater disability. If a patient has not been having
regular heart checks, consider the possibility of a severe
► Cardiac arrhythmias must be considered for patients
with palpitations and/or dizziness/pre-syncope and investigated
with ECG, 24-hour tapes or similar.
► Chronic respiratory failure in Becker muscular dystrophy
may present without the usual signs of respiratory
distress. Subtle signs include early morning headaches,
fatigue, daytime sleepiness, reduced appetite and weight
loss. Consider underlying respiratory failure in case of
a chest infection.
► If supplemental oxygen is required during a respiratory
crisis, this must be carefully controlled. Healthcare professionals
must be alert to the possibility of acute respiratory
failure with an arterial blood gas assessment of
oxygen, carbon dioxide and bicarbonate concentration.
Non-invasive ventilation, with oxygen entrained, may
► Assisted coughing with chest physiotherapy and breathstacking
techniques with an AMBU bag help to clear
lower airways secretions. This can also be facilitated by
a cough assist device.
Congenital muscular dystrophy (CMD)
► Collect cough swab or sputum for culture and use broadspectrum
► Consult early with senior to discuss need for ITU care
and escalation of respiratory support.
► The likelihood of heart involvement depends on the
underlying CMD mutation and this guides the intensity
of cardiac surveillance (i.e. Echo and ECG).
► Cardiomyopathy occurs commonly in MDC1C (fukutin
mutation) around age 10 years, progressing to heart failure.
Periodic cardiac imaging is recommended from diagnosis.
► LV-dysfunction may be mild or non-progressive
► Even asymptomatic LV-dysfunction should be treated
empirically with conventional regimes (e.g. ACE-inhibitors
or angiotensin-receptor blockers; +/- beta-blockers;
► The possibility of severe LV-dysfunction should be
considered when CMD patients present acutely or for
other aspects of their condition.
Speech and language therapy/swallowing
► Swallowing difficulties can be common in CMD.
► Symptoms such as recurrent chest infections, unintentional
weight loss, the sensation of food and drink sticking,
or feeling the need to clear the throat when eating
or drinking, should be investigated more thoroughly.
► Refer to a specialist speech and language therapist for
an up-to-date swallowing assessment and/or the nutrition
team for consideration of alternative means of hydration/
nutrition, such as gastrostomy.
Low-energy fractures can occur in children with poor mobility
and joint contractures.
► In the limbs, these can appear as ‘greenstick’ or impacted
fractures and can be difficult to see on X-ray.
► A high level of suspicion is required if a child has minor
trauma, pain, tenderness and limited, reduced mobility.
► Refer to specialist paediatric orthopaedic services for
GI nutritional issues
► Gastrostomy tube leakage can occur and may need
► Infection should be treated with appropriate antibiotics
or topical preparations.
► If the site is very swollen, the tube may have to be
removed to relieve pain.
► If tube is removed/or falls out it is important to keep entry
site open using XX and to contact the gastrointestinal
specialist as soon as possible.
Facioscapulohumeral muscular dystrophy (FSHD)
FSHD is a muscular dystrophy characterised by progressive
muscle weakness affecting the facial, scapular, axial, upper
arm and lower leg muscles. Wrist and hand muscles as well
as those in the hips may be affected but usually later in the
condition. Bulbar muscles can be affected in the more severe
cases and at late stages of the condition. Extraocular and respiratory
muscles tend to be spared. The severity of the condition
varies from patient to patient even in the same family
and is partly dependent on the severity of the mutation.
► Respiratory function is usually normal. In a minority of
cases, however, type 2 respiratory failure may occur
owing to weak breathing muscles, causing shortness
of breath and nocturnal hypoventilation.
► Patients can be prone to chest infections owing to respiratory
failure. Patients reporting dysphagia might also
be at risk of aspiration pneumonia.
► Immunisations should be kept up to date, including the
flu and pneumococcal vaccines.
► If breathing function is impaired and if supplemental
oxygen is required during a respiratory crisis it must
be carefully controlled (aim for SpO2 target range of
88-92%) and carbon dioxide levels monitored.
Non-invasive ventilation (NIV) may be required.
► Assisted coughing with chest physiotherapy and breathstacking
techniques with an AMBU bag help to clear
lower airways secretions during acute chest infections,
or prophylactically when respiratory function is compromised.
This can also be facilitated by a cough assist
Heart function is usually not affected. Potential cardiac
symptoms (palpitation, fainting, dizziness and shortness of
breath) require appropriate investigations. Coincidental cardiac
problems, unrelated to FSHD, are more likely than causally
Chronic pain, probably secondary mechanical in origin rather
than being directly related to the myopathy, is very frequent
in FSHD patients. Mechanical cervical and lower back pain
is common especially in patients who are developing an axial
myopathy lumbar lordosis (often evident as a protuberant abdomen).
Fractures and falls
► Owing to weakness and poor balance, patients with
FSHD are at high risk of frequent falls.
► Consider checking vitamin D levels and bone mineral
density, especially following a fall or fracture.
► If ambulant, internal fixation is preferable to casting as it
helps to preserve muscle by allowing earlier mobilisation.
► Orthotics input is important, especially for ankle weakness.
Orthotics can also be used to support the axial
myopathy and periscapular weakness.
► Some patients can experience an increased sensitivity
to sedatives, inhaled anaesthetics and neuromuscular
blockade. It is essential that the anaesthetist is aware
of the diagnosis of FSHD so that appropriate plans can
be made for post-operative monitoring.
► Patients with compromised respiratory function have
a higher anaesthetic risk.
► Local anaesthetics and nitrous oxide are safe, e.g. for
minor dental procedures.
Liver serum creatine kinase (CK) and ‘liver’ enzymes (AST/
ALT, but not gamma GT) may be mildly raised owing to the
muscle involvement. The clinical setting dictates whether
further investigation of the apparent liver dysfunction is indicated.
► Constipation is common in FSHD patients with substantially
reduced mobility, but may need assessment to
exclude other causes.
► When dysphagia occurs in FSHD, patients are at risk
of aspiration pneumonia.
Other possible manifestations
► Conjunctivitis and ulceration of the cornea can occur
owing to limited blinking and inability to properly close
the eyes, also when sleeping. The patients should consider
using artificial tears and protect their eyes during
► Retinal vasculopathy, usually asymptomatic, may affect
► High-frequency sensorineural hearing loss is common,
not usually symptomatic.
► Substantial facial muscle weakness may lead to misinterpretation
of emotional expression, particularly in those
with severe, childhood-onset FSHD.
QASA “EISH” CAMPAIGN 2017
Taking Action when Disability Discrimination Occurs
QASA launches a creative “EISH”* campaign by using the wheelchair Lego man in various environments identifying
problems and issues experienced by persons with physical disabilities.
*Term used in South African English and Afrikaans to express exasperation or disbelief. The word
was first transliterated from the Xhosa language to Afrikaans, and then into South African English
(Urban Dictionary). Also used to express surprise, annoyance, pain, etc (Oxford Living Dictionary).
QASA manages a contact number for members to lodge a complaint, discuss an issue, seek advice and be heard.
0860ROLLING (0860765546) is manned by QASA staff from Monday to Friday 8am to 4pm.
QASA will take note of each and every call which will allow the organisation to interrogate the issue, provide a
solution, have a call to action and respond to the caller.
Visit our website www.qasa.co.za if you want to become a member / learn more.
JUSTICE TRANSPORT ACCESS PARKING EMPLOYMENT
The National Road Traffic Act (1996), (Act 93 of 1996) in regulation 305 sub regulation (7) states the following:-“No
person other than a disabled person or a driver of a vehicle conveying disabled persons which motor vehicle is
issued with a sticker for conveying disabled persons shall park on a parking bay reserved for disabled persons”.
QASA believes that wheelchair parking facilities, designed 3500mm wide, are for the use of wheelchair users only.
This is to ensure that a wheelchair user has the required width in order to get in or out of a vehicle safely.
QASA has a campaign whereby in the event of a non-wheelchair user misusing a wheelchair demarcated bay
the public are encouraged to take a photo (ensuring the vehicle registration is clear & wheelchair parking sign is
visible) and WhatsApp it to 0738539675 including the location, date and time and QASA will kindly sensitise the
If you have an EISH moment / experience with wheelchair parking not being provided, available
or being abused, communicate this to QASA and QASA will investigate and follow up.
QASA will strive to remove the EISH from your parking issues.
Make Today Count Tandem
By Christo van den Berg
Everyone in the cabin got ready and checked their
seat belts, and as the plane approached the point
from where we would jump, we slowed down and
the door was opened. Corné Vorster, the instructor
with whom I was doing the tandem jump, moved
me to the point of exit from the plane and said,
“Are you ready?” After a quick shuffle we jumped
out. The feeling was overwhelming; it felt like I
just dropped without any assistance, and so fast.
It was hot on the ground, but up in the air it was
very cold. You fall freely with your hands open and
simply drift in the air.
I looked around and everything looked different
from up there, like you would see in the movies.
After a few minutes, Corné held my head back,
pulled my hands in and the parachute opened up.
Corné gave me two handles, one right and one
left, and said, “You're in control of parachute”. I
turned left and then in a circle and then right into
I am affected with Charcot-Marie-Tooth disease, and
one of the things that I always wished to do was skydiving.
When I read about the “Dare Me For Charity
Skydiving” event, hosted by MDF Gauteng, which
included the Make Today Count Tandem Skydiving
event, I signed up for the challenge.
We were ready to land, the plane having landed
already, and softly we came back down to the
ground. It was really nice and a great experience
with such a professional team.
On Saturday, 12 August 2017, I had the opportunity
to do a tandem jump at Leeukop Farm Airfield in
When they lifted me up into the plane, my adrenaline
began to pump and I began to get a hollow feeling in
my stomach, the feeling that you get when you know
what is coming next and you are full of excitement.
They asked me if I was ready, and with great excitement
I said “Yes!” The plane engines started and hot
air from the exhaust pipe flowed into the cabin as the
door was shut.
The plane slowly began to move forward and the engine
started to pick up and we were lifted up into the
air. As the plane started to climb, my stomach felt
awkward, that butterfly feeling. I looked out of the
window to the ground below and realized how small
everything looked from so high up.
(Pictured: Christo van den Berg, from Bethlehem
and Elvis Naya, from the Seychelles)
By Doné and Hanti van Eyk
The Little Hero Foundation held their inaugural muscular
dystrophy awareness run on 30 September 2017 in conjunction
with the Springs parkrun. More than 500 runners lined up
to complete the five-kilometre course, most wearing green to
show support and create awareness. The heart of the event
was the intention to run for those who can’t. Before the start,
an opportunity was provided to explain to the participants and
the supporters what muscular dystrophy is and how it affects
those who live with this condition.
The Little Hero Foundation was established by
Doné and Hanti van Eyk following the diagnosis in
2017 of their two-year old son, Lian, with LMNArelated
congenital muscular dystrophy. The purpose
of the foundation is to create awareness of all types
of muscular dystrophy and actively participate in the
“fight” to find a cure.
By Pieter Joubert
Earlier this year Bennie Hattingh, an MDF Gauteng
member, and his friend Martin Kotze did an incredible
road trip in a 1968 Renault 6 from Brits to Yzerfontein
on the West Coast.
They left on 22 August and travelled 300 km per day at
60 km per hour, their car’s top speed. This unique journey
was in honour of the life of André Hattingh, son of
Bennie and Lynette Hattingh, and of others touched by
Duchenne and various muscular dystrophies.
The history of their Renault is also rather interesting. It
was found in a scrapyard and cost a mere R3 000, but,
to the surprise of everyone, purred to life after a few
fluids were put in. After being fitted with new tyres and
shocks and being freshly painted, the car was ready to
hit the road once more.
The Muscular Dystrophy Foundation Gauteng wishes to
thank Bennie Hattingh, Martin Kotze and all who were
involved for the awareness they have created. Following
the trip every day on Facebook was an amazing
So says Anne-Marie,
diagnosed with FSHD
at age 33
[Extracts from the article “‘Lewe net!’, sê lyer”
published in TygerBurger Goodwood, 5 September
2017 written by Carina Roux (translated and
slightly adapted by Pieter Joubert)]
TygerBurger spoke to Anne-Marie
Stoman, 58, a resident of Panorama
Palms Retirement Village.
She was diagnosed with facioscapulohumeral
(FSHD) at the age of 33.
FSHD affects the muscles in the
face, shoulders and upper arms.
It goes even further to her waist
and legs – even to her feet, Anne-
Marie explains. “My whole body
is affected. That's why I can tell
a joke without emotion”, she
The offbeat humour soon comes
through in the conversation.
She was very sporty and took
part in hockey, squash, karate
and modern dancing. It was in an
aerobic exercise class that she
"began to feel like an elephant –
thud, thud, thud, I could not skip
She went home embarrassed,
where she tried to stand on her
heels. “I couldn’t. Even less on my
toes. I thought I was going crazy.”
She went from one doctor to the
next. Eventually an intern friend
referred her to a doctor at Mediclinic
Constantiaberg. He made
the diagnosis by sticking needles
into her left leg, and was able to
determine that the problem lay
with her muscles.
She continued with sport and with
exercising at a women's gym until
seven years ago, “until I really
couldn’t do it any more”.
About the diagnosis, she just
thought “whatever” and did not
even read up on FSHD. “I just
went on with my life until I started
falling – also at work.”
She worked in the army's signal
regiment, a fine-grained job
where she sometimes had to install
and carry equipment. She
started falling and later could no
She assists with administration
functions at the Muscular Dystrophy
Foundation Cape Branch and
provides moral support for others
– like the mother of a young man
“I give moral support and sometimes
visit people when they are
a bit depressed – I love helping
Many people struggle to accept
the condition, she says, but she's
very positive – “and I laugh at everything,
maybe it's wrong! I know
exactly how it feels for people who
have just been diagnosed – you
must try to get something positive
out of your situation and it's difficult.
Once you've done the mind
switch, forget the rest, just live!”
She emphasises that one must
keep on going, but she admits
you cannot force people, as they
sometimes think it's a death sentence.
Fit and active
She was always fit and active and
believes this definitely helped
her body not to deteriorate too
quickly. “I should have been in a
wheelchair a long time ago – the
longer you can keep your muscles
supple, the longer you can keep
In the beginning, a person will
feel the difference in their body,
she says, and later you will find
that you struggle with a drawer
that you could still open the day
before. Then you should be careful
not to hurt yourself. “I give
such advice on things that have
happened to me.”
It may sound strange, says Anne-
Marie, but she has never been
as happy as she is now. “In my
work I was always on the ball
and thought people should keep
up with my fast pace. They were
actually scared of me and didn’t
want to talk to me.” Now she is
much more relaxed.
Recently a ballroom dance was
held in the hall, and she told
someone: “If the Lord asked me if
he could give me my legs back so
I could go dancing or if I'd rather
have what I have now, I wouldn’t
think twice. I'm incredibly happy
here and in myself.” She still does
things, says Anne-Marie. As long
as she can, she will fold her walking
frame and put it in her car,
which she still drives. She is part
of a support group where everyone
can laugh and cry as they
please and advise one another.
She is also part of the Loslappie
Quilting Group, although she initially
doubted whether she’d be
able to work with a needle because
she couldn’t even pick up
a glass with one hand. Where
there’s a will, she finds a way.
Now completely screwed
After a fall, she recently underwent
arm surgery. With three
screws in her arm, she’s now
completely screwed, she jokes.
“I often tell people that I think I'm
too stupid to realise what's happening
to me, so I just carry on – I
know, but just keep on going.”
There have been many dark times
in her life, but she has come
through them. She realises that
her children, aged 32 and 29,
would have suffered. She has
learnt to handle things with a
sense of humour – that laughter
can turn away wrath.
You cannot walk around with the
Bible under your arm, but you can
display love and advise others.
Original article online at: https://issuu.com/tygerburger/docs/tygerburger_de_grendel_20170906
KINGFISHER CORNER, SEDGEFIELD
By Hilton Purvis
For many years the little village of Sedgefield, on the
Cape Garden Route, was a town that we always passed
through on the way to somewhere else. Each time we
would read signage indicating the "Wild Oats Farmers
Market" which is held every Saturday morning. As we
developed an interest in our local Cape Town farmers
markets we started taking more notice of the Wild Oats
market and decided to plan a holiday which would place
us there on a Saturday morning.
Finding accessible accommodation is always a challenge,
and Sedgefield does not provide many choices,
but we discovered "Kingfisher Corner" self-catering accommodation
via the website of Disabled Travel (www.
disabledtravel.co.za) and decided to give it a try.
Built on a hillside overlooking the Sedgefield estuary,
"Kingfisher Corner" consists of three separate houses.
The lower house is the home of the owner, and the
central unit has ramped access from the driveway and
provides a fully accessible interior. The upper house is
accessed from the road and provides a very spacious,
accessible, home-like interior. All provide the necessary
grab rails, roll-in showers, etc although the upper house
is a little more difficult to access with a wheelchair from
the road. The view from the veranda of the central unit
is included for this article and provides a spectacular
panorama of the estuary, which will have you spending
a lot of time finding reasons to be sipping gins and tonic
on lazy summer afternoons!
36 Kingfisher Drive, Sedgefield
Tel/Fax: +27 (0)44 343 1715
See details online at: http://www.capestay.co.za/
The Wild Oats Farmers Market is accessible with assistance
(the car guards will direct you to parking places
which are close to the action) provided you can manage
undulating grass and hard ground under your wheels. It
is one of the few genuine farmers markets servicing the
residents of the town and not merely acting as a dining
opportunity for visitors looking for entertainment as is
so often the case in Cape Town. It is a large, busy and
active market providing fresh produce, food, beverages
and crafts over quite a large area and can keep you
busy for a good couple of hours!
Another Sedgefield institution worthy of a visit is the famous
"Mr Kaai's" fish shop on the main road, just next
to the one and only traffic robot in the town. We enjoyed,
without doubt, the finest seafood platter we have
ever eaten at Mr Kaai's, sitting outside the restaurant
underneath the canvas awning. You really cannot drive
through Sedgefield without stopping in at Mr Kaai's! It's
as simple as that.
By Tasnim Jadwat Casoojee
on my screen. After reading a few lines it was evident
that Iman’s condition would ultimately result in her
early demise, as Iman would be classified with type
1, the most severe form of SMA.
January 2010, a new year full of hope promise and
prosperity for South Africa. But a time bomb had been
placed on my child. “SMA type 1 Werdnigg Hoffmann
disease” the doctor wrote, after a quick examination.
Fasciculations? Tremor in her hand? I’m sorry.
“Doctor, how much time do we have left with her?
A month, plus another, and maybe another?”
But it was just the beginning, a new outlook on life and
the world around. Our little angel was special from
the time she arrived in this world. Iman Casoojee was
born 6 April 2009. “You have a girl” we were told, after
a reasonably easy C-section. As I kissed her for
the very first time, I thought, by God’s mercy she is
healthy and beautiful, a child born with a single tooth.
My husband and I couldn’t wait to take her home and
start our new life together as a family. We named her
Iman not knowing that it would be the most ironic
name of all. Iman means faith.
Even before Iman entered this world, I would follow
her progress day by day on the internet. Once she was
born, I wanted to learn everything about her and how
to be the best mother possible. For a while everything
seemed fine, and she reached all her milestones, but
at six months Iman did not sit by herself and preferred
lying down all the time. Being a first-time mother, I
was not that concerned as I’d read that some kids just
develop slowly. When Iman was nine months old, she
still couldn’t sit. We noticed that she couldn’t even roll
or lift her head when placed on her tummy. We knew
something was wrong but never guessed it would be
When we returned to Johannesburg we took Iman to
another neurologist. Although my heart told me it was
serious, I prayed and cried, pleading to God to make
things okay. This was before our world was turned
upside down. The doctor examined Iman and said he
had bad news for us. On a piece of paper he wrote
down “SMA – Werdnigg Hoffman’s Disease”. I immediately
started crying and asked the doctor how
much time Iman had left with us. He responded that
she could have a few months left, and that no cure or
treatment was available.
When someone tells you your child is going to die, you
feel as though every bit of air in your body has been
removed and your heart has been perforated. But the
weirdest part of knowing is that you feel you already
knew it, almost déjà vu. I immediately called my parents
to inform them about Iman. We never thought
that a condition like spinal muscular atrophy would
ever manifest in our child; we did not even know it
existed. For a parent, imagining that your child may
never walk is hard enough, but being told your child’s
time is limited is the worst feeling possible.
In 2011 we attended the Cure SMA conference in
Orlando, USA and decided to make a vacation of the
trip. However, Iman contracted the RSV virus [respiratory
syncytial virus] and spent 17 days in a Miami
hospital. Her right upper lung collapsed and she was
intubated. We were so close to losing her. Miraculously,
she recovered. Fast forward to a few years
later, and Iman is still alive and looking forward to
starting a recently approved treatment for SMA, labelled
Spinraza. This lifesaving treatment is making
such a big difference to the lives of many affected
During a holiday to Durban, Iman was taken to my
sister’s husband, Dr Ridwan Omar, a paediatrician,
who disclosed that Iman was an extremely floppy
baby and recommended we see a paediatric neurologist,
who suggested that further testing would be
required. While the doctor examined Iman, I made
mental notes of all the symptoms she was pointing
out. Although I did not understand any of the terms,
I intended to find out what they meant. After returning
home, I “googled” the symptoms, which included
a tremor in Iman’s hand as well as “fasciculations”.
The results were devastating: a degenerative muscle
disease called “spinal muscular atrophy” popped up
Tribute feature for the
late Patrick John Artman
By Carol Artman
vigour, but Pat struggled to climb the steps and get
in and out of the swimming pool. With his “never say
die” attitude, Pat started his own company manufacturing
fibreglass basins for hairdressing salons. He
was the sole worker and delivery man, doing everything
on his own as he could not afford to hire help.
He would sometimes fall, but pick himself up and
My husband, Patrick, and I were married on 9 March
1967. We lived in an old, run-down building in Crown
Road, Fordsburg. After a few years we moved to a
flat in Newclare, where I noticed that Pat couldn’t
climb over the little embankment in front of the flat
and had to walk a short way to where the surface
was flat. It didn’t bother us much. We were in the
prime of our lives and by this time had three children,
the youngest being our son Sheldon (4). We
had just purchased a piece of land in Fleurhof to
start building our own home. Pat was so proud and
happy, as he really wanted to have his own home.
But that pride and joy turned to sadness when, at
the age of 37, he was diagnosed with muscular dystrophy,
which we had never heard of before.
The news struck us like a death sentence. We cried,
we prayed and cried again. Yes, we were also angry
with God! But we decided to take one day at a time,
and Pat soldiered on bravely. He was diagnosed
with three types of dystrophy: limb girdle MD, spinal
muscular atrophy, and Becker MD.
During his long stay in Baragwanath Hospital undergoing
countless tests, he was unexpectedly dismissed
from his job for being absent for such a long
period attending to his health. He had lined fibreglass
pools, which required physical strength and
During this time a very “special lady” by the name of
Renske came into his life, having called him for an
appointment to sell him life insurance. She played
a very important role in our lives as she was instrumental
in getting him a motorised wheelchair when
he could no longer walk and his arms had become
weaker. Before Pat passed away he referred to her
as his “guardian angel”, which she indeed was.
Before we fully understood muscular dystrophy, we
were fortunate to meet another person with MD,
Pieter Joubert, and his family, who shared the same
challenges and made it easier for us to get through
many of them. Through what has become the Muscular
Dystrophy Foundation, Pieter introduced us
to many other people with the condition, one of the
most notable being Ilse Langenhoven, who was
serving on the committee but has since also passed
Pat tried for a long time not to become dependent
on the wheelchair but as he became weaker it allowed
us to continue enjoying holidays and outings,
creating some beautiful memories. He worked tirelessly
to give his family a good life despite his circumstances,
but his long fight ended on 3 October
Thank you, Pat, for your brave fight and your love of
me and the children. You indeed had a good name
– “A good name is better than any fine perfume; and
the day of death better than the day of birth” (Ecclesiastes
7:1). We miss you, and you will forever be
in our hearts.
Rest in peace, Pa.
MDF Gauteng and Cape wish to thank you for your continued support.
Ride London: Barbara’s story
Just one year ago, Barbara was diagnosed with
facioscapulohumeral muscular dystrophy (FSHD)
which causes muscle wasting in the limbs, shoulders
and face. A life-long cyclist, she was determined
not to let her condition stop her love for the
“I’m doing Ride London because I want to prove
to myself, and others, that my condition won’t stop
me doing the sport I love. I have always cycled
regularly, and I refuse to let my condition slow me
Barbara works in an office as a case consultant for
a pensions company. She lives in Stockport, with
her husband, their two sons and their daughter.
She has big plans to compete in 2017’s Ride London
event – a 100 mile cycling challenge across
London and Surrey.
“Being diagnosed was devastating and a real
shock to all the family. I had heard of muscular dystrophy
before because my brother in law’s mother
has limb girdle muscular dystrophy. But she had
never really talked about it until I was diagnosed.
Now, we openly share our experiences, which is
Barbara’s road to diagnosis started at a sports
massage clinic after cycling from Land’s End to
“My muscles felt stiff and tired, so I hoped a massage
would ease the tension. I had also noticed
physical differences, such as changes to my posture,
and issues with my balance, but I didn’t think
much of it. Then, at my appointment, my masseuse
was shocked when she realised I had little
muscle tissue around my neck. She was amazed
and asked how I even held myself up on a bike.
Worried, I booked an appointment with a physiotherapist,
who referred me to hospital. Just before
Christmas, in 2015, I was given the news I had
“It was such a tough period. I had no information
about the condition and felt totally isolated. There
is never a good time, but Christmas was a really
tough time to get such life-changing news.
Thankfully, not long after, I heard about Muscular
Dystrophy UK. Through them, I was able to access
information, specialist support, and heard about
others with similar conditions.
“After diagnosis, I was desperate to see someone
with my condition living an active life. I needed to
see someone else who was doing okay. As FSHD
is so rare, I didn’t know anyone else with the condition.
Then, a friend told me that I could be the
person that others look to. She was right.
“Since then, I’ve taken even more pride in maintaining
as much cycling as possible, because I
want to show others what’s possible. I have had
to make adaptations, such as taking more breaks,
but the enjoyment and drive is still there. Last summer
I cycled the ‘Holy grail’ of cycling routes when
I conquered the Madonna del Ghisallo, which is a
10km climb from Lake Como and is a place of pilgrimage
for Italian cyclists.
“I am so fortunate to have already had cycling in
my life, as it made me determined to just keep going.
I’m not super fit, and you don’t have to be to
get on a bike.
“In 2017 I have two big bike rides planned – I will
be cycling through Spain in February and France in
July with some of the cyclists I met in in Italy. One
day, I plan to cycle the length of the River Rhine
through Switzerland and Germany to the Netherlands,
which will be a real mental challenge.
“I was really inspired to enter Ride London to raise
funds and awareness of muscular dystrophy. It
would be amazing to think I have contributed to a
future cure. I’m also inspired to show others what
can be done with a condition.
“I always wanted to see someone with FSHD living
an active life in the public. Now, I’m happy to be
that person. So when the next person is diagnosed
they can see that it’s not all doom and gloom – you
can keep going.”
Article online at: http://www.musculardystrophyuk.
The Roe family’s
Mandy Roe’s son, five-year-old T-Jay, has Duchenne
muscular dystrophy, and is eligible for new
drug, Exondys 51.
The drug – which was recently approved by
the Food and Drug Administration in the United
States – is currently being considered for a licence
by the European Medicines Agency.
Read the family’s story:
“Exondys 51 is a piece of hope for T-Jay and us:
a ray of light in a very dark tunnel”.
T-Jay lives in Nottinghamshire with his parents
and big sisters Cassidy (15) and Lexi (7). His
mum, Mandy, sees the drug as potentially life
changing for T-Jay, who has the devastating
muscle-wasting condition, Duchenne muscular
“T-Jay is a happy, fun loving young boy. He
started school in September 2016 and is doing
so well, with lots of friends who he enjoys running
and playing with. He loves to read and is a
real bookworm. He is brilliant at writing and very
good with numbers.
“When T-Jay grows up he wants to be a teenage
mutant ninja turtle!”
T-Jay was diagnosed with Duchenne on 1 July
2015. He has a deletion amenable to the skipping
of exon 51, meaning he is eligible for
Mandy says: “He had a fall off the sofa and after
the blood test we got the devastating news.
At that moment, our world fell apart. It really is
heart-breaking to see your son get so upset because
he falls or can’t keep up with his friends.
It’s hard to see he can’t do things that other children
would take for granted: walking, running or
climbing the stairs.
“If he were able to start treatment with Exondys
51, he could carry on doing the things he loves
for longer: playing with his friends, going to
swimming lessons and dancing to his favourite
“If I could speak to the decision makers directly,
I would ask them to please help my son, giving
him the best chance possible to be a happy
T-Jay isn’t a case note, or a name on a piece of
paper: he is my universe.”
Article online at: http://www.musculardystrophyuk.org/your-stories/exondys-51-the-roefamilys-story/
The Muscular Dystrophy Foundation of SA would
like to thank the National Lotteries Commission for
Ella and her ‘cheeky feet’
Lucy Brady lives in Huntingdon, Cambridgeshire,
with her husband, Andrew, and their four-year-old
daughter, Ella, who has Charcot-Marie-Tooth disease
(CMT). Lucy talks about Ella’s diagnosis, and
what life is like for her young daughter.
“Ella started walking on her first birthday, but she
never found her feet properly. We would always be
following her around, waiting for her to fall.
“By the time Ella was two, she was falling over
all the time. We were getting quite worried by this
point, and after numerous trips to see the GP, we
were eventually referred to a physio. By this point,
Ella’s feet were starting to turn under. She had an
MRI, and from there, we were referred to a neurologist.
In February 2015, a blood test confirmed
Ella had CMT.
“Ella’s diagnosis didn’t come as a massive shock
to us, because I am a trained nurse, and had done
lots of research when I was trying to find answers
as to what was wrong with Ella. At first my husband
and I were relieved that it wasn’t something worse,
but then it hit us that there is no treatment, and this
took a while to come to terms with.
“Having ‘cheeky feet’ is how we describe Ella’s
condition to her. We tell her that when she was
made, CMT said they wanted to be part of her,
they picked her. When we said this to Ella, she
said “What if I don’t want CMT?” so I told her that
CMT likes her, so it will always be with her, but the
doctors will help her. To that, she said ‘OK, that’s
“Ella loves school, she is really outgoing, bubbly
and bright. She is learning phonics at the moment,
which she is enjoying. Unfortunately she didn’t
qualify for receiving any extra support at school,
but she has physio at lunchtime. Ella’s classmates
are very accepting of her condition – she wears
splints to school, and the children will ask what
they are and why she is wearing them. They hold
her hand and help her where they can.
“We recently got a dog, and as a family, we enjoy
walking him, and Ella uses her wheelchair. We also
like going on trips to London to visit the Natural
History Museum – Ella loves dinosaurs.
“Tiredness is becoming an issue for Ella. She is becoming
dependent on her splints, and without them
she really struggles to walk and wants to crawl, or
be carried. She suffers with cramping at night, so
we do massage to help with this, and watch cartoons
to distract her from the pain.
“My advice for parents who have recently had a
child diagnosed with CMT would be to make sure
you have a good support network around you. Let
people who want to help, be there for you. There
are lots of fantastic organisations out there who
can offer advice and support, including Muscular
Dystrophy UK. Don’t try and take everything on
your shoulders. You have to get to the point where
you accept your child’s condition is part of them.
Take each day as it comes.
“I think a support group for parents would be really
helpful. It would give us a human link to people,
and the chance to share experiences.
“Ella’s neurologist told us about Muscular Dystrophy
UK. We started looking on the website for information
about Ella’s condition, we found this really
helpful. It was at this point that we decided we
wanted to start fundraising for the charity.
“Last year, seven of us took part in the charity’s
Town and Gown running event in Cambridge. We
completed the 5km race, and thanks to the fantastic
support from the local community, we raised
more than £1,200 for the charity.
“We are looking at what to do next. We might do a
yearly challenge under the name ‘Ella’s team’.”
Article online at: http://www.musculardystrophyuk.
The following three articles, all by Jenny Sharpe, are from the Research section of the Muscular Dystrophy
UK website (http://www.musculardystrophyuk.org/progress-in-research/news/).
Scientists at the University of California,
Berkley, have developed a new
way to deliver the genome-editing technology,
CRISPR-Cas9 into cells. This
new system, called CRISPR-Gold, corrected
the mutated dystrophingene in
a mouse model of Duchenne muscular
CRISPR-Cas9 consists of a piece of
RNA and the Cas9 enzyme that can cut
DNA like a pair of ‘molecular scissors’.
The RNA guides Cas9 to cut a specific
region of DNA.
In order to accurately correct a mutation,
CRISPR-Cas9 must be delivered
with the healthy DNA sequence (called
the donor DNA). The cell uses the
donor DNA to repair the cut made by
Cas9, through a process called homology-directed
repair. This has been difficult
to achieve with adeno-associated
virus (AAV) delivery systems, as they
are too small to fit both the CRISPR-
Cas9 and donor DNA.
An advantage of CRISPR-Gold is that
it can carry CRISPR-Cas9 and donor
DNA simultaneously. It does this using
tiny gold balls called gold nanoparticles.
These are covered in a special
coating that helps them to get inside
New CRISPR system corrects dystrophin mutation in
Duchenne mouse model
the cell. Once inside, the gold nanoparticles
break apart and release the CRIS-
PR-Cas9 and donor DNA. This triggers
homology-directed repair, which corrects
In this study, the researchers designed
CRISPR-Gold to target the mutated
dystrophin gene in the mdx mouse
model of Duchenne muscular dystrophy.
It was injected directly into the
muscles of the mice, as it cannot be delivered
Two weeks later, the researchers found
that about 5% of copies of the dystrophin
gene were corrected. This significantly
increased the amount of dystrophin
protein in the muscle and reduced
muscle scarring (fibrosis). The treated
mice also performed better in muscle
function tests compared to untreated
mice. The researchers concluded that
CRISPR-Gold was safe because it did
not cause other mutations or an immune
One of the leaders of the study, Professor
Niren Murthy, told The Scientist:
"In this paper, we were actually able
to correct [the gene for] dystrophin
back to the wild-type sequence. The
other way of treating this is to do
something called exon skipping,
By Betty Kao
which is where you delete some of
the exons and you can get dystrophin
to be produced, but it’s not [as functional
as] the wild-type protein."
CRISPR-Gold has not yet been tested
in clinical trials, but some of the researchers
have created a company
called GenEdit to focus on translating
the technology into humans. They are
also developing a next generation of
nanoparticles that can be injected into
the bloodstream. This could potentially
improve their clinical benefit, as
they could get into every muscle of the
body, including the heart and breathing
Professor Vincent Rotello, a drug
deli-very and nanotechnology expert at
University of Massachusetts, who not
involved in the study, told The Scientist:
"There’s a lot of work to be done to
move to the point where we’ll actually
be able to cure diseases, but I think
this [study] shows the way forward."
The study was published in the scientific
journal Nature Biomedical Engineering.
Article online at: http://www.musculardystrophyuk.org/news/news/newcrispr-system-corrects-dystrophin-mutation-in-duchenne-mouse-model/
Myotubular myopathy gene therapy trial to start in the UK
Audentes Therapeutics is currently developing
a gene therapy drug, named
AT132, for the potential treatment
of X-linked myotubular myopathy
(XLMTM). AT132 uses a harmless
adeno-associated virus to deliver a
healthy copy of the MTM1 gene to the
body. AT132 is currently being tested
in the US, in a phase 1/2 trial named
Audentes Therapeutics recently announced
that the Medicines and
Healthcare Products Regulatory Agency
(MHRA) has approved the Clinical
Trial Authorisation (CTA) application
for testing AT132 in the UK. This
means Audentes Therapeutics can start
working with UK based clinical study
sites to start enrolling individuals with
XLMTM into their ongoing ASPIRO
Muscle strength tests could help to predict bone health
in people with FSHD
This article was kindly shared by June
Kinoshita, FSH Society.
Muscle plays an important role in bone
health, and conditions such as Duchenne
muscular dystrophy have been
linked to low bone mineral density,
abnormal bone turnover (the cycle of
new bone formation and old bone removal),
and increased risk of fractures.
It was not known whether facioscapulohumeral
muscular dystrophy (FSHD)
also affects bone health, and a recent
study published in Muscle & Nerve begins
to address this question.
Bone health is a concern for many people
with muscular dystrophy, because
weaker muscles increase the chance of
falling and the risk of fracture. Fractured
bones can take a long time to
heal, and reduced mobility as a result
of fractures can, in turn, further weaken
Mr Matthew R Patterson, President and
Chief Executive Officer at Audentes
Therapeutics, said in a press release:
"This CTA approval represents another
important milestone for our
AT132 program. We recently announced
dosing of the first patient in
ASPIRO at a U.S. clinical study site,
and we are pleased to be working
closely with the European XLMTM
community as we continue to execute
on our global plans to develop
AT132 as a potentially transformative
product to treat this devastating
ASPIRO is a multi-centre, open-label,
dose-ascending study which will enrol
12 children who are less than five
years old with XLMTM. The study
will compare the safety and efficacy
of three different doses of AT312 in
nine of the twelve participants. The remaining
three participants will be part
of a delayed-treatment control group,
who will be treated once the optimal
The study, led by Dr Kathryn Wagner
of the Kennedy Krieger Institute in
Maryland, USA, examined 94 people
with FSHD, half in Australia and half
in the U.S. The volunteers had genetically
confirmed FSHD Type 1 and were
examined for correlations among disease
severity score, bone mineral density,
blood biomarkers (molecules associated
with bone turnover and health),
strength tests and function.
Overall, the study reported that a diagnosis
of FSHD was not predictive
of decreased bone mineral density or
increased bone fractures. However,
the researchers found that declines in
whole-body and regional bone mineral
density were moderately correlated
with reduced muscle strength and function.
These patients had a higher prevalence
of traumatic fractures, as well as
abnormally low levels of vitamin D3.
By Sofia Nnorom
dose of AT132 has been established.
Primary efficacy analysis will be assessed
twelve months after treatment,
with participants being monitored for
a further four years to assess long-term
safety and developmental progression.
Preliminary results from the ongoing
ASPIRO study are expected by the end
of the year.
In September 2017 Audentes Therapeutics
announced the US Food and
Drug Administration (FDA) granted
Rare Paediatric Disease and Fast Track
status for AT132. In addition, AT132
has also received Orphan Drug status
from both the FDA and the European
Medical Agency. These statuses will
help speed-up the development and
review process of AT132, which will
help get the therapy to patients quicker.
Article online at: http://www.musculardystrophyuk.org/news/news/myotubular-myopathy-gene-therapy-trial-tostart-in-the-uk/
By Jenny Sharpe
“Given the considerable variability
of bone health in the FSHD population,
strength and function can serve
as predictors of bone mineral density,”
the study concluded.
The authors suggested that periodic
bone-density scans should be done in
people with FSHD whose strength and
functional tests indicate a higher risk of
lower bone mineral density. This will
assist doctors in developing effective
treatment plans tailored to individuals
to help prevent fractures and promote
The study was funded by a grant from
FSHD Global Research Foundation and
the U.S. National Institutes of Health.
Article online at: http://www.musculardystrophyuk.org/news/news/musclestrength-tests-could-help-to-predictbone-health-in-people-with-fshd/
Inspiratory muscle training in children and adolescents with
neuromuscular disease: Never take breathing for granted
By Anri Human
“Life is not measured by the
number of breaths we take,
but by the moments that take
our breath away.”
– Maya Angelou
People living with a neuromuscular
disease (NMD) such as Duchenne
muscular dystrophy (DMD) or spinal
muscular atrophy (SMA) face
the challenge of progressive muscle
weakness caused by their condition.
This weakness is clearly seen
when there is difficulty with walking;
getting in and out of the car; picking
up objects and doing everyday
life activities such as eating and
dressing. In the same way as these
large muscles progressively lose
their bulk, strength and function as
time passes, so breathing muscles
also become progressively weaker.
Breathing muscles include the diaphragm
(the main muscle that assists
in taking a deep breath), intercostal
muscles (between the ribs)
and abdominal muscles. Complications
of breathing muscle weakness
include not being able to expand the
lungs enough to supply sufficient oxygen
to the body; difficulty in clearing
lung secretions because of a weak/
ineffective cough; and frequent lung
infections. The regression of breathing
muscle strength, frequent infections,
difficulty in breathing and decreased
oxygen (hypoxia) lead to
patients experiencing a poor quality
of life. The effects of breathing muscle
weakness become much more
noticeable once a person loses the
ability to walk. Therefore any treatment
that slows down muscle weakness
and keeps a person on their
feet longer may also help maintain
The solution might seem simple at
first: if breathing muscles are weak,
they should be strengthened in order
to improve, slow down or maintain
function in the same way as we
try to maintain the function of our
arms and legs. The principle is similar
to strengthening your biceps by
training with a weight or dumbbell.
Devices used for inspiratory muscle
training (IMT) provide resistance
when the user takes a deep breath,
leading to strengthening of the diaphragm.
Although training has been
shown to be effective in athletes and
patients with asthma, IMT in people
with NMD remains controversial.
For this reason we did a study to
find out if training the inspiratory
breathing muscles (especially the
diaphragm) can improve breathing
muscle strength, lung function and
quality of life of the patients using
it. The main parts of the study and
some of our early findings are outlined
in this article.
What did South African
We conducted an electronic survey
to find out how South African
physiotherapists treat children and
adolescents with NMD. Very few
physiotherapists in our country have
clinical experience and expertise in
treating people with NMD, as this
is a highly specialised field. However
most of the physiotherapists
who took part in this survey were
aware of international clinical practice
guidelines and recommended
breathing exercises and strengthening
of the breathing muscles in this
An interesting case
Previously published research studies
have suggested that people with
very poor lung function and severe
breathing muscle weakness would
not benefit from IMT and therefore
should not undergo this treatment.
However, we had a case of a
10-year-old girl with advanced spinal
muscular atrophy and severely
affected breathing muscles which
suggests that this might not necessarily
be true in all cases. After only
four weeks of training with a threshold
IMT device (15 breaths, twice
a day) we saw clear positive clinical
effects. Her inspiratory muscle
strength, her posture and her selfreported
health-related quality of life
improved. She rated her experience
with the training regime as 9/10 and
said that she would like to continue,
as it made her “breathing better”.
What did the observational
We then started a small-scale clinical
study among eight children between
the ages of 8 and 17 with a
variety of neuromuscular diseases
(including DMD and SMA). The children
did 30 deep breaths against a
resistance, twice a day, five days
a week, for six weeks. We found
significant improvements in their
breathing muscle strength and the
flow of air they could create with a
deep breath, and, excitingly, we also
saw a marked improvement in the
children’s upper limb function and
What was even more encouraging
was the feedback from patients
themselves when asked what they
thought of IMT:
“It is fun and helps me to be able
to run faster and for longer.”
“I can breathe better during the
course of the day.”
“It helps me to improve and keeps
“I can now come to the physiotherapy
department, or go to
the mall with my mother and do
shopping without getting short of
breath like I used to and have to
take a break before going further
[with her manual wheelchair].”
Furthermore, we noticed other improvements
that we did not expect:
Some of the children had better posture,
improved confidence, reported
that they could sing better as their
voice projection improved, used
their asthma pumps less, were more
motivated and concentrated better
in class, and some even showed
improved academic performance!
Although probably not all of the outcomes
can be directly attributed to
IMT, and some children might benefit
more than others depending on
the disease progression and type of
NMD, these early results are truly
Watch this space:
what is currently being
A randomised cross-over clinical
study is currently being conducted
in Cape Town and Gauteng (mainly
Pretoria) in which approximately
20 children and adolescents living
with NMD are included. Children
in the study train with a threshold
IMT device for three months and
are followed up on for another three
months to see how long the effects
of IMT last. We hope that by the
end of 2018 our results will be able
to guide clinical practice in order to
implement effective and safe treatment
strategies so that we can help
to improve the quality of life for all
people living with NMD.
I would like to acknowledge the following
very important role players:
Profs Brenda Morrow and Jennifer
Jelsma (supervisors); Dr Lieselotte
Corten (research assistant in Cape
Town), Sjaan Flanagan (Powerbreathe),
my colleagues at Red
Cross Children’s hospital (Cape
Town), Dr George Mukhari Academic
Hospital (Pretoria), Nuwe Hoop,
Pretoria and Meerhof schools, and
most importantly all the patients and
their parents who have taken part in
this study or are still part of it. I salute
each and every one of you.
For further information or any queries,
please contact us at:
tel. 012 521-4047, or
A little boy with big dreams
Ludick Fouche is 8 years old and is affected with Duchenne
muscular dystrophy. In June 2017, Ludick was given the opportunity
to go for a ride in a chariot pulled by one of our
Muscle Riders cyclists, Angelos Frantzeskos. The ride then
slowly became a more regular occurrence, and before we
knew it Ludick and Angelos were teaming up to take on the
Telkom 947 Cycle Challenge together. After many practice
sessions in Muldersdrift and awesome adventures with the
Muscle Riders team, Ludick and Angelos crossed the finish
line on 19 November 2017 in 4 hours and 32 minutes flanked
by a large group of Muscle Riders who helped. We could not
be more proud, and together with Ludick’s family and everyone
who attended, it was a day we will never forget.
Look out for the April 2018 issue of MDF Magazine, in which
we will revisit the Telkom 947 Cycle Challenge in a big way.
Pictured: Front: Jan Ferreira, Ludick Fouche and
Angelos Frantzeskos. Rear: Anzelle Fouche. ►
This makes accessing the tremendous
power of the smartphone so much easier
and places the availability of all of
the items mentioned earlier in this article
right on the tip of my tongue!
My smartphone died the other day,
which led me to put together a list of
items I needed to tote around all day in
order to function normally. It amounted
to quite a staggering collection of items
which include a laptop/PC, diary, reference
books, novels, multimedia discs,
notebook and pen, calculator, GPS,
stopwatch/timer/watch, torch, remote
control for front gate, spirit level, alarm
clock, telephone, video camera, stills
camera, magnifying lens, USB memory
stick, radio, music player, Scrabble,
chess, photo album and sticky notes.
It became clear to me only when I assembled
all of these items just how
much functionality I had placed on my
smartphone. I would consider myself a
relatively "lite" user and certainly not
someone who has the phone permanently
attached to the end of his arm!
No doubt when I first obtained my
smartphone it was intended to be used
as a communication device, but as time
passed and the technology developed,
the phone took on additional work responsibilities
and went from being a
part-time assistant to a full-time employee!
Some people might argue that
the new phones are "employers" by the
way they control our lives, but that is a
debate for another time.
The hopefully temporary hospitalisation
of my smartphone led me to realise
what a valuable contribution these devices
make to the disabled community.
I don't know about you, but I generally
struggle to physically handle items such
as computers, books, remote controls,
etc. I battle to hold them, and my fingers
struggle to operate them. Having
to pick things up and put them down
all the time is really a no-no, and even
more so if they are bulky and heavy.
When I have them all condensed into
one small item, which is easily operated
via a touch screen, then the advantages
become immediately apparent.
I shall focus on just one example for a
moment. My Roberts Birds of Southern
Africa guide, which for many years
was a manageably sized printed book,
has in its most recent incarnation become
a monster coffee table book! This
makes it essentially useless to me since
it is impossible to hold the beast, never
mind actually page through it. Even my
able-bodied birdwatching friends have
effectively shunned it. Along came the
Roberts Birds of Southern Africa App
for Android and iOS, which included
all of the information from the book
together with the functionality of being
able to search, listen to bird calls, create
lists, make notes and search maps.
It provided all of the resources of the
book, plus more, in an interactive package
smaller than the size of my hand.
Another feature I have enjoyed using
on my smartphone is the ability to
"ask" it to perform basic and simple
tasks such as dialling a number, sending
a message, opening a particular
application and many more. The very
enthusiastic voice activated Google Assistant
(Android) and the equally helpful
Siri (iOS) are always ready to do
my bidding with suitably phrased voice
commands. They don't always work so
well in a noisy environment, but within
the peace and quiet of your own home
(where no one can see you talking to
yourself on the phone!) it is remarkably
The opportunity to have my smartphone
function as a remote control device has
provided me with much satisfaction,
and I am looking forward to seeing how
this feature will develop in the coming
years. My previous phone provided remote
control via an infrared port, which
worked very effectively on devices
such as my television, video player, etc.
It was however limited by this communication
mechanism and by whether
one had a phone with an infrared port.
Now you can download applications
which provide remote control for gates
and doors (literally kilometres away
from where you might be sitting) via
the phone's communication mechanism
without any need to have hardware features
such as infrared ports or Bluetooth
connectivity. Coupled to this, you can
connect to video cameras which allow
not only access control but also the
ability to see activity and exactly who
is coming or going.
Somewhere along the line, after my
smartphone died, I think I also missed
the ability to make phone calls! I didn't
notice it at first because all the added
functionality provided for so many of
my needs that the primary goal of the
device was somehow lost in translation.
Having to use a landline phone invokes
a feeling of being in a museum, sampling
a piece of technology from the
past capable of performing only one
I sure hope they can fix my smartphone
soon – all this stuff I now have to carry
around weighs a ton!
Prof Amanda Krause, MBBCh, PhD MB BCh,
Medical Geneticist/Associate. Professor.
Head: Division of Human Genetics.
National Health Laboratory Service (NHLS)
& The University of the Witwatersrand.
Please e-mail your questions about genetic counselling to firstname.lastname@example.org.
How to maintain muscle strength
How do I maintain muscle strength if I have muscular dystrophy? Is there
any medication, diet or exercise that is effective?
Muscular dystrophies are a large group of conditions which vary significantly in age of onset, rate of sion and severity. It is thus very difficult to answer the question of how to maintain muscle strength apart from broad general
In almost all muscular dystrophies progressive weakness is a key part of the disease, as there is an inherent problem with the structure or function of the
muscle. In addition, it is very hard for people to build new muscle cells after birth. People who do not have muscular dystrophy build muscle bulk by
enlarging the muscle cells they have through exercising strenuously and pushing their limits. The approach as regards people with muscular dystrophy
should be very different.
It is good to work regularly with a biokineticist or physiotherapist who is aware of the specific areas of strength and weakness and can thus provide an
individualised programme for each client. Biokineticists or physiotherapists may also be able to advise on how to use less affected muscles to overcome
weaknesses of more affected muscles, so that function is maintained.
People with muscular dystrophy should make every effort to improve muscle tone and fitness and maintain whatever strength they can. They should not
try to build muscle or strength, as there is a significant risk of further damage to muscles that are already damaged and stressed. Thus, a person should
exercise regularly and non-strenuously. Weights and resistance should generally not be used. Exercise should be aerobic. Individuals need to listen
to their bodies and should stop exercising if they have any pain or fatigue. They should use stretching exercises to increase and maintain the range of
motion and to avoid contractures developing or worsening. It is also important to strengthen stomach and back muscles (both being ‘core’ muscles) as
this can improve posture and balance and enable you to breathe better.
Cardiomyopathies and cardiac conduction defects are very common in several forms of muscular dystrophy. Individuals should be aware that if these
are present they could also limit exercise capacity. Similar principles as those above apply, and exercise should be within the cardiac capacity of an
individual. If there is any doubt about a person’s cardiac status, a cardiologist should be consulted before any exercise programme is initiated.
As in healthy individuals, exercise used correctly can be beneficial in maintaining and improving strength and activities of daily living. Exercise also
reduces fatigue, improves bone density, improves sleep and has positive psychological effects.
In contrast to the benefits of exercise, there is little to suggest that diet or medication is beneficial in improving muscular dystrophy.
A note on Guillain-Barré syndrome
What is the relationship between Guillain-Barré syndrome and muscular dystrophy?
Although Guillain-Barré syndrome and muscular dystrophy may appear to have overlapping
symptoms of weakness, which can be progressive, they have completely different causes and
disease courses. Guillain-Barré syndrome is a rare condition in which the body’s immune
system attacks the nerves, leading to muscle weakness and even paralysis. Although the exact
cause is unknown, it often occurs after a viral or bacterial infection. The onset may be
rapid, but most people eventually make a full recovery, some more rapidly than others. This
is in contrast to muscular dystrophies, which are due to genetic causes and do not generally
improve after onset but continue to progress.
Sandra’s thoughts on…
Feeling lost in life’s maze
Sandra Bredell (MSW)
The feeling of being lost in life has been described in
many ways – like being dropped in the centre of a maze
with no map of how to get out, going around in circles,
ending up in dead ends all the time, going backwards
and forwards but not seeming to make any progress
(Hounsell, 2016, 2017). These experiences may sound
familiar to you because they are real and we all experience
some of them in our life from time to time.
We feel that we are stuck in the middle, moving in circles
and making no progress. We might be feeling walled in
and with nowhere to turn. Maybe we have experienced
a feeling of not having the capabilities for fi nding a way
out of the situation. Why would this be? It might be that
we think we should be able to control where we are going
or where we want to go. Or we might be hoping for
someone to rescue us from this route that is taking us in
circles. Sometimes we do get a glimpse of the pathway
but might think that we do not have the tools to conquer
it. Maybe we accept that we are being guided by a higher
power and that we should be calm and continue with
what we need to deal with. On the other hand, it might
also leave us angry and anxious, resulting in us blaming
others for our situation, blaming people close to us, our
parents, brothers and sisters and being disappointed in
the higher power for not helping us out of this predicament.
That is a lot to think about.
So, how do we navigate our way out of this
When we fi nd ourselves tied up in the challenges of
life’s maze, we have to keep our focus on the pathway
and not get side-tracked by what people say or what
we think they are going to say, by the economic situation
in the country and the scarcity of water, et cetera.
These are important aspects that can infl uence our life,
but single-handed we cannot solve all of these situations.
Regardless of how much we blame others, we
can choose our emotions to restrict our moving forward
or see this maze as an opportunity to develop life skills,
believe in ourselves and trust the support that people
are offering us in moving forward and making progress.
We can take stock of our capabilities and our support
systems and keep focused. That should build our confi -
dence to conquer the maze.
Remember, even if we fi nd ourselves at the same spot
more than once, we are not falling behind. Life is not a
race and defi nitely not linear. The goal of life is not to get
things done but to allow ourselves to live. We so often
want to be fi nished with pain, doubt, uncertainty and
loss. We want to “solve the maze and get out” (Beck,
2013). But in actual fact it gets us to move out of our
comfort zones and gives us an opportunity to gain more
skills and put them to work.
Maybe we should also see the maze as a safe place
where we can explore what feels dangerous. As 2017
draws to an end, and I do not know where you are in the
maze of life, my wishes are that you will fi nd the maze
also to be a safe place where you can allow yourself
to get to know yourself and trust your abilities to make
a choice to move forward and make progress in 2018.
For those who will be going on holiday, travel safely and
enjoy the time with family and friends. Wishing you a
wonderful and blessed 2018!
Beck, M. 2013. The labyrinth of life. Martha Beck. Available
Hounsell, S. 2016. Do you feel like you are lost in a
maze? Sandy Hounsell. Available at: https://sandyhounsell.com/feel-like-i-am-lost-in-a-maze/
Hounsell, S. 2017. Do you feel like you are lost in a
maze? LinkedIn. Available at: https://www.linkedin.com/
Marshall, J. 2017. Feeling lost in life’s maze? Think
again. LinkedIn. Available at: https://www.linkedin.com/
Pattakos, A. 2012. Life and the labyrinth of meaning.
HuffPost. Available at: https://www.huffingtonpost.com/
Our sincere thanks to the Rotarian Club of Goodwood
for the successful golf day on 6 October. A special
thanks to Colin Jacobs and Judy Bird for the effort put
into the arrangements for the day. Once again Anne-
Marie Stoman and Sanjay Narshi were a huge help in
promoting the muscular dystrophy cause.
Wellness health fair
at Bothasig Clinic
On 9 September we joined other NPOs to raise awareness
at the Bothasig Clinic. It was a great opportunity
to promote awareness within our area.
Family fun picnic
World Duchenne Day on 2 September
was celebrated at the beautiful Urban
Park in Green Point. We enjoyed a funfilled
day in the company of friends and
members, with many fun activities for
Grand West outing
On Thursday 21 September 2017 our MDF children
enjoyed a fun day at our annual Grand West outing.
The group got to do ten pin bowling and played
arcade games to their heart’s content at the Magic
Company. What a joy it was to watch the faces of
our MD children enjoying the thrill and excitement
of all the activities on the day. Everyone enjoyed a
lovely lunch at Wimpy restaurant, and each child
received a goodie bag to take home. Our sincere
thanks to Reach for a Dream for their assistance on
this special day. This was once again a wonderful
fun-filled day for our MD children.
Customized backs of
Our sincere thanks to the Wetterhahn Foundation
for their donation of R50 000, which
was used to update five wheelchairs with
new customised NXT backs. These NXT
backs provide individual customised support
for both back and head if or when necessary.
This new back can be customised to
recipients as they grow and as their posture
changes. This donation has provided both
comfort and safety for the recipients.
Muscular dystrophy workshop
By Robert Scott
The morning of 2 September 2017 was a little on the chilly
side, but that did not stop many MDF members from making
their way to the muscular dystrophy workshop at Hope
School in Westcliff.
If you needed MD knowledge, some fun and some great
tasting food, this was the best place to be!
Talks were given by John Rodda (professor of
paediatric neurology at Wits and head of department
at Chris Hani Baragwanath Hospital),
Suretha Erasmus (genetic counsellor), Kerrie
Austin (physiotherapist) and Marinus Mans, who
told his inspirational personal story as someone
affected with MD. We would like to thank them all
for spending the day with us.
Furthermore we would like to thank all of our
sponsors for assisting us with the amazing food!
Thank you to:
A group picture was taken of everyone in attendance with a red balloon to show their support for World
Duchenne Awareness Day on 7 September.
The workshop was informative and enjoyed by all. Lastly, thank you to Hope School, MDF staff and all the
volunteers who helped make the day an amazing success!
“Special guests from Prague” MDA Ride
Muscular Dystrophy Foundation Gauteng recently had the
pleasure of meeting some colleagues all the way from the
MDA Ride is a group of people who decided to band together
to support those affected with muscular dystrophy
in the Czech Republic, but with a twist. They do it with their
motorcycles! They have been in operation for nine years
and have managed to help many people in this time.
It was an honour to have met these amazing individuals
and wish them the best of luck with their work. We salute
you and thank you for all that you do for those affected with
By Robert Scott
A feel-good morning held in aid of muscular dystrophy
Saturday 4 November witnessed the inaugural Redhill High School’s wellness
Saturday – something for the body, mind and spirit. The morning was
held primarily to help to raise money and awareness for muscular dystrophy
and MDF Gauteng. The fine, hot day saw 22 enthusiastic, energetic people
attend the 8:00 am to 9:00am boot camp session led by Sonio Fiandeiro,
a Redhill teacher qualified in and passionate about fitness. This raised R1
100. Approximately 100 yoga enthusiasts took part in the 1½-hour SUCO
yoga session from 9:30 to 11:00am. This calmer yet invigorating session
was led by members of the SUCO yoga company. The latter kindly donated
20% of its takings to our cause.
It was heartwarming to note how many participants revealed
a keen interest in the charity and in informing
themselves about muscular dystrophy. Hopefully this
awareness will spread and many more people will support
the 2018 event.
We would like to thank Redhill School and
The Sunshine Collective (SUCO) for their support.
By Michelle Pretorius
Thank you Old Mutual Foundation
We are most grateful for your support and wish to express our
deep gratitude to your company for the amount of R125 000
received towards purchasing motorised wheelchairs for people
in need. We appreciate your care and concern for the needs of
people affected with muscular dystrophy.
Thabo Maleho, aged 9, affected with Duchenne muscular dystrophy, has
been assisted with a new motorised wheelchair. His father no longer has to
carry him as he can move around independently. Thabo is very happy, and
his father wishes to thank the MDF for assisting his son with a motorised
Letsetsa Tobby Maphapo
I am Toby Maphapo and I am from Limpopo. I would like to say thank
you to the Muscular Dystrophy Foundation Gauteng for helping me to get
a new motorised wheelchair. I am thrilled with it and cannot thank them
enough. I am very happy.
My name is German Maleshane, from Tlamelang Special School, and I would like to take this moment to
thank the Muscular Dystrophy Foundation Gauteng for the new wheelchair.
You guys gave me life, and life is good from now on. I will be able to go to places in my hometown, and I am
also going to Grade 12, so thanks a lot!
You gave me hope and changed my life, and I can also visit my friends and relatives now.
My name is Tshenolo Molapisi and I would like to take this opportunity to say thank you to the Muscular
Dystrophy Foundation Gauteng for giving me the new wheelchair. I am so happy to have gotten the new
Casual Day 2017
The Muscular Dystrophy Foundation KZN Branch participated with
Casual Day sticker sales, and were delighted with the sale of 2 598 stickers.
As in previous years, the branch could not have done this alone,
and we wish to place on record our sincere thanks to the following volunteers,
schools and companies that assisted us in our sticker sales:
• Sister Namitha Chabilal from Inkosi Albert Luthuli Central Hospital
• Cornel Smith, management and staff of Reutech Communication
(New Germany, KZN) for their generous donation once again this
year, matching the rand value of the stickers sold
• U & G Fabrics
• Staff, family and friends at Effingham Primary School
• Staff and pupils of Effingham Secondary School
• St Raphael’s School, Montclair
• Volunteers – Cathy Khoon Khoon, Veronique Conner
• Volunteers – Mercedes Benz, Riverhorse Valley
• Bronz Salon
• SA Homeloans, La Lucia
• Parmalat, Riverhorse Valley
• New Frontier Tours, Westville
• Tetra Pak South Africa, Pinetown
• Meltec Agencies, Pinetown
Pictured: Maureen Malinga,
Bronwen Goldstone, Chernice
Singh, Alison Bruce and Adelle
The KZN Branch also wishes to place on record our thanks and appreciation to the management and staff at the
Westville Mall for allowing us the use of their premises over a few days. You assisted us greatly in promoting
awareness of muscular dystrophy.
A big thank you and appreciation also goes to Neil Goldstone and Duane Goldstone for generously providing
time from their busy schedules in assisting with the selling of stickers.
Thank you once again for your support and assistance in the sale of stickers. We look forward to your assistance
and contribution again next year!
KZN Branch AGM 2017
The Muscular Dystrophy Foundation held its 43rd Annual General
Meeting on 21 October 2017 at 24 Somtseu Road, Durban. It was
a well-attended meeting, and it was great to see new as well as
familiar faces. The MDF chairman of KZN, Mr Noel Pillay, reported
that this year had been a rewarding year for the KZN Branch
and was proud to say that the KZN office had progressed by leaps
and bounds in pursuing and implementing some strategic goals.
Our treasurer, Mr Raj Mahadaw, gave feedback indicating that,
despite some challenges, all was not doom and gloom. He stated
that we at MDF KZN were ever grateful to our companies and donors
who had loyally supported us during the past financial year,
and it was through their assistance that we could assist in providing
motorised and manual wheelchairs and assistive devices for
those who needed them. He also said that although we would
have liked to assist more people, funding was a challenge.
Pictured: Noel Pillay,
Debbie Goldstone, Dr Pam Rapiti,
Lovina Mahadaw, Namitha Chabilal,
We are proud to announce that we have a newly elected task force team that will assist the branch in marketing,
the care of people with muscular dystrophy, and fundraising events. Dr Pam Rapiti stressed that the foundation
is here to improve the lives of those with MD and their families.
We would like to once again thank all staff, members, those with MD, and volunteers for attending our AGM, and
everyone 36 for their assistance and support of the MDF KZN Branch!
Awareness at Genetic Congress
The 17th Biennial Genetic Congress was recently held at Elangeni Hotel,
Durban. This was organised and facilitated by a group of enthusiastic and
passionate people working in the field of human genetics in KZN, assisted
by a conference convenor. The theme, ‘Ubuntu genetics: We are because
you are’, focused on community genetics. It was well attended by national
and international delegates including clinicians, geneticists, counsellors,
nurses and allied health professionals. The academic programme highlighted
various aspects of genetics including counselling, clinical cases,
genetic testing available in SA and overseas, and research on various
genetic topics. Learners from Westpark School for Learners with Special
Educational Needs officially opened the congress with their electrifying
rendition of the national anthem and showcased their talents with gumboot
dancing and drums.
An emotional and special tribute was delivered by Prof M Adhikari on the
late Prof WS Winship, known as the father of genetics in KZN.
Pictured: Namitha Chabilal
and Debbie Goldstone
As part of the social programmes, delegates had the opportunity to dress
in colourful traditional wear, apply mehndi and eat traditional Indian
meals at a colourful and entertaining Indian Evening at the Maharani Hotel.
The gala dinner was held at the Ushaka Marine World, surrounded by hammerheads and sharks – it felt as
though we were having dinner on the ocean bed – a breathtaking experience indeed!
MDF KZN was invited to be part of this special meeting by Genetics Alliance SA – an umbrella body for support
groups in SA. MDF KZN being a member of the alliance, we had the opportunity to be part of this prestigious
An awareness table was set up and Casual Day stickers and licence disc holders were on sale. This was well
supported by all. Members of the MDF also took the opportunity to market the foundation and its role in the community
and networked with other societies and trade bodies.
Amashova Cycle Challenge
Amashova is a cycle race from Pietermaritzburg to
Durban that took place on 22 October 2017.
In order to raise funds for the Muscular Dystrophy Foundation
KZN, Dr Amith Keshave and his team formed
The 100s Club – to get at least 100 people to support
the team for cycling the Amashova by donating at least
By successfully completing the race, Dr Keshave’s team
managed to raise R23 000 for the foundation. This initiative
was inspired by one of Dr Keshave’s patients, Baby
Arushi, diagnosed with spinal muscular atrophy type 1.
Thank you for your donation and support!
Pictured: Dr Amith Keshave, Namitha Chabilal,
Sonam Nundkissoor (mom), Baby Arushi
Nundkissoor, Akashen Nundkissoor (dad)
KZN Branch Golf Day
KZN Branch Golf Day
By Debbie Goldstone
On 17 September 2017, Fairways Golf Club hosted a golf tournament
in partnership with the Muscular Dystrophy Foundation
KZN Branch at the picturesque Amanzimtoti Golf Course.
Whilst the start of the day was preceded by ominous weather
and light rain, the rest of the day was without rain and presented
the golfers with perfect playing conditions. The club
was gracious in welcoming representatives of the MDF and
promised to consider an annual MDF golf day.
Great prizes were presented to golfers bringing in the top
scores at the end of the day, sponsored by Fairways Virtual
Golf Club and the MDF.
A big thank you goes out to Africa Training Centre for generously
donating R8 000 and to Fairways Virtual Golf Club for
also donating R4 000 to the Muscular Dystrophy Foundation
KZN Branch. Thanks also goes to Indhu Meiser, Executive
Manager of Dash Luxury Apartments, for generously sponsoring
a one-night stay at their luxury apartments.
A great thank you to all who assisted and for allowing us this
opportunity to create awareness and bring in much needed
funds. We raised a total of R13 020 (inclusive of donations
and a lucky draw).
MDF KZN awareness table at
An awareness table was set up at the 17th Biennial Congress
of the Southern African Society for Human Genetics, which was
held on 13 –16 August at the Elangeni Hotel, Durban. The sale of
Casual Day stickers and licence disc holders was well supported
by the delegates. Members of the MDF took the opportunity to
market the foundation and its role in the community.
Thank you for your support!
Pictured: Namitha Chabilal,
Debbie Goldstone and
Dr. Pam Rapiti
For independent living
Tel (021) 592 3370
SOMEONE I LOVE
Needs a Cure
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.
Tel: 011 472-9703
(Western Cape, Northern Cape & part of Eastern Cape)
Tel: 021 592-7306
(Gauteng, Free State, Mpumalanga, Limpopo & North
Tel: 011 472-9824
(KZN & part of Eastern Cape)
Tel: 031 332-0211