Autumn Issue 58
R25.00 incl. VAT
parent's guide &
Articles of 2018
In memory of Pieter Joubert
j a ckSt a n e
m a ib a 2go uggy
Posture Support Wheelchairs
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It is designed to be highly maneuverable and
yet stable, allowing users with varying levels
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The jackStander enables SAFE supported
standing during activities or therapy at
school and at home. Fully tilt adjustable
standing allows the child to be either upright,
in prone (on tummy) or supine (on back).
Regular short periods of supported standing
may stretch hip and lower limb muscles
and reduce the onset of spinal deformity.
Respiratory function, circulation, digestion
and bowel/bladder functioning may also be
Our Madiba Buggy and madiba2Go Buggy
are rugged posture support mobility devices
specifically designed to provide adjustable
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The madiba2Go seating system can also
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further expanding the modes of use for full
body posture support.
Shonaquip is South Africa’s leading paediatric wheelchair producer and service provider. We offer a wide range of award
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These devices are backed by sound clinical expertise enabling custom options to be created for children with postural
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Uhambo Foundation and Shonaquip are
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Tel: +27 (0)21 797 8239 Email: firstname.lastname@example.org www.shonaquip.co.za
05 MDF notice board
06 National news
10 MD information
06 Introducing the parent's guide & children's book
07 Walk the Talk 2019
10 Myasthenia Gravis Fact Sheet
14 Every year, August has a focus on Spinal Muscular
Atrophy or SMA
16 Muscle Riders Appreciation Function
17 Muscular Dystrophy Awareness Day at Kabouterland!
18 Living in the Moment
19 A Day in the Life of a Person with MG
20 Living Independently With CMT
22 Tracey – Right on target
24 In memory of Pieter Joubert
33 Doctor’s corner
34 Sandra’s thoughts on …
30 Sex – A guide for Parents
28 Top 10 Muscular Dystrophy Articles of 2018
C O N T E N T S
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Managing Editor: Gerda Brown
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
(Deadline: 5 July 2019)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profit organisation that supports
people affected by muscular dystrophy and
neuromuscular disorders and that endeavours to
improve the quality of life of its members.
If you look up “transformation” in the dictionary you will find that it means a
marked change in form, nature, or appearance. Transformation is something
that many approach with hesitation, especially when they have been comfortable
with things the way they are. However, transformation is inherently a
change in the way things were, are or will be. This is often viewed as scary but,
at the end of the day, we all have to transform at one point or another because
time waits for no one.
The Muscular Dystrophy Foundation is experiencing a transformation as we
speak due to the tragic passing of the Gauteng Branch General Manager,
Pieter Joubert, on 3 January 2019. While this is a time to mourn for many, the
Foundation is transforming and the torch is being passed to those who stand
at the ready. We dedicate this issue of MDF Magazine to Pieter. “We will miss
In this issue you can read about how cyclists raise awareness and much needed funds for the Foundation by
riding in the Telkom 947 Cycle Challenge. You can find out more about the children’s book that the Foundation
has launched and read inspiring stories of individuals affected by muscular dystrophy. There is also interesting
news on events, MD information, research articles and our regular features.
Warmest greetings and best wishes for good health and happiness in 2019.
My School Card
MySchool is South Africa’s biggest community-based
fundraising programme and raises over R4 million
every month for schools, charities and animal welfare
Every time you swipe your MySchool card at any
of the partner stores they make a donation on
your behalf to the beneficiary of your choice.
Please ask friends and family members to sign up for
a MySchool card and make the Muscular Dystrophy
Foundation of South Africa your chosen beneficiary,
which means the MDF would receive a percentage of
the purchase value whenever the card is used.
Some of the participating stores are Woolworths, Engen and Flight Centre.
Sign up at www.myschool.co.za
Subscription and contributions to
We publish three issues of MDF Magazine
a year and you can subscribe online
to the magazine or by calling your nearest
If you have any feedback on our publications,
please contact the National Office
by e-mail at email@example.com
or call 011 472-9703.
Get all the latest news on the fight
against muscle-wasting conditions and
the latest research updates. It is our editorial
policy to report on developments
regarding the different types of dystrophy
but we do not thereby endorse any
of the drugs, procedures or treatments
discussed. Please consult with your own
physician about any medical interventions.
If you are interested in sharing your inspirational
stories, please let us know
and we'll be in touch to discuss this
with you. The Foundation would love
to hear from affected members, friends,
family, doctors, researchers or anyone
interested in contributing to the magazine.
Articles may be edited for space
MDF SA database
If you know people affected by muscular
dystrophy or neuromuscular disorders
who are not members, please
ask them to contact us so that we can
register them on our database. If we do
not have your current e-mail and postal
address, please contact your branch so
that we can update your details on our
How can you help?
Branches are responsible for doing their
own fundraising to assist members with
specialised equipment. Contact your
nearest branch of the Muscular Dystrophy
Foundation of South Africa to find
out how you can help with fundraising
events for those affected with muscular
Crossbow Marketing Consultants (Pty)
Ltd are doing invaluable work through
the selling of annual forward planners.
These products can be ordered from
Crossbow on 021 700-6500. For enquiries
contact the National Office by
e-mail at firstname.lastname@example.org or call
MDF support information
For more information about the Muscular Dystrophy Foundation, the benefits of being
a member and details on how to become a member, call your nearest branch..
Tel: 011 472-9703
Address: 12 Botes Street, Florida Park,
Banking details: Nedbank, current account
no. 1958502049, branch code
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
Banking details: Nedbank, current
account no. 2011007631,
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
Banking details: Nedbank, current
account no. 1958323284
branch code 192841
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
KZN BRANCH (KZN & part of
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Banking details: Nedbank, current
account no. 1069431362
branch code 198765
General MD Information
Tel: 021 794-5737
Tel: 011 472-9824
Win van der Berg (Support Group)
Tel: 021 557-1423
Maxine Strydom (Support Group)
Tel: 031 762-1592
Cell: 083 290 6695
Jan Ferreira (Support Group – Pretoria)
Cell: 084 702 5290
Tel: 012 667-6806
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Cell: 079 885 2512
Tel: 012 664-3651
Cell: 083 66 66 270
Friedreich Ataxia (FA)
Cell no: 084 405 1169
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Tel: 011 640-1531
Tel: 017 683-0287
When you first learn that your child has muscular dystrophy
the news is often unexpected and devastating. You may
experience a sense of powerlessness at the prospect of dealing
with the diagnosis and feel stressed at facing a future filled
with unknowns. As a first step, it is important to find out as
much as you can about your child’s condition and its care. The
more information you have, the less frightening the present
and future will seem.
The Muscular Dystrophy Foundation of South Africa has been
fortunate enough to receive a donation to enable us to draft a
parent’s manual and children’s book. These will be invaluable
tools to both parents and children in their journeys with
muscular dystrophy. Contact Gerda Brown at the National
Office if you are interested in acquiring a copy of the manual
and/or children’s book.
Walk the Talk 2019
Date: 28 July 2019
Where: Marks Park Sports Club, Emmarentia
Join the Muscular Dystrophy Foundation of South Africa at Walk the Talk 2019!
Help us make a difference by walking with our team to raise awareness and
funds for those affected with muscular dystrophy.
For more information email Gerda Brown
*Entries open in May 2019*
By the National Institute of Neurological
Disorders and Stroke
What is myasthenia gravis?
Myasthenia gravis is a chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles, which are
responsible for breathing and moving parts of the body, including the arms and legs. The name myasthenia gravis, which is
Latin and Greek in origin, means "grave, or serious, muscle weakness."
The hallmark of myasthenia gravis is muscle weakness that worsens after periods of activity and improves after periods of
rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing
are often (but not always) involved in the disorder. The muscles that control breathing and neck and limb movements may
also be affected.
There is no known cure but with current therapies most cases of myasthenia gravis are not as "grave" as the name implies.
Available treatments can control symptoms and often allow people to have a relatively high quality of life. Most individuals
with the condition have a normal life expectancy.
What causes myasthenia gravis?
Myasthenia gravis is caused by an error in the transmission of nerve impulses to muscles. It occurs when normal
communication between the nerve and muscle is interrupted at the neuromuscular junction—the place where nerve cells
connect with the muscles they control.
Neurotransmitters are chemicals that neurons, or brain cells, use to communicate information. Normally when electrical
signals or impulses travel down a motor nerve, the nerve endings release a neurotransmitter called acetylcholine.
Acetylcholine travels from the nerve ending and binds to acetylcholine receptors on the muscle. The binding of acetylcholine
to its receptor activates the muscle and causes a muscle contraction.
In myasthenia gravis, antibodies (immune proteins) block, alter, or destroy the receptors for acetylcholine at the
neuromuscular junction, which prevents the muscle from contracting. In most individuals with myasthenia gravis, this
is caused by antibodies to the acetylcholine receptor itself. However, antibodies to other proteins, such as MuSK
(Muscle-Specific Kinase) protein, can also lead to impaired transmission at the neuromuscular junction.
These antibodies are produced by the body's own immune system. Myasthenia gravis is an autoimmune disease because the
immune system—which normally protects the body from foreign organisms—mistakenly attacks itself.
The thymus is a gland that controls immune function and may be associated with myasthenia gravis. Located in the chest
behind the breast bone, the gland is largest in children. It grows gradually until puberty, and then gets smaller and is replaced
by fat. Throughout childhood, the thymus plays an important role in the development of the immune system because it is
responsible for producing T-lymphocytes or T cells, a specific type of white blood cell that protects the body from viruses and
In many adults with myasthenia gravis, the thymus gland remains large. People with the disease typically have clusters of
immune cells in their thymus gland similar to lymphoid hyperplasia—a condition that usually only happens in the spleen and
lymph nodes during an active immune response. Some individuals with myasthenia gravis develop thymomas (tumors of the
thymus gland). Thymomas are most often harmless, but they can become cancerous.
The thymus gland plays a role in myasthenia gravis, but its function is not fully understood. Scientists believe that the
thymus gland may give incorrect instructions to developing immune cells, ultimately causing the immune system to attack
its own cells and tissues and produce acetylcholine receptor antibodies—setting the stage for the attack on neuromuscular
What are the symptoms of myasthenia gravis?
Although myasthenia gravis may affect any skeletal muscle, muscles that control eye and eyelid movement, facial
expression, and swallowing are most frequently affected. The onset of the disorder may be sudden and symptoms often are not
immediately recognized as myasthenia gravis.
In most cases, the first noticeable symptom is weakness of the eye muscles. In others, difficulty swallowing and slurred
speech may be the first signs. The degree of muscle weakness involved in myasthenia gravis varies greatly among
individuals, ranging from a localized form limited to eye muscles (ocular myasthenia), to a severe or generalized form in
which many muscles—sometimes including those that control breathing—are affected.
Symptoms may include:
• drooping of one or both eyelids (ptosis)
• blurred or double vision (diplopia) due to weakness of the muscles that control eye movements
• a change in facial expression
• difficulty swallowing
• shortness of breath
• impaired speech (dysarthria)
• weakness in the arms, hands, fingers, legs, and neck.
Who gets myasthenia gravis?
Myasthenia gravis affects both men and women and occurs across all racial and ethnic groups. It most commonly impacts
young adult women (under 40) and older men (over 60), but it can occur at any age, including childhood. Myasthenia gravis
is not inherited nor is it contagious. Occasionally, the disease may occur in more than one member of the same family.
Although myasthenia gravis is rarely seen in infants, the fetus may acquire antibodies from a mother affected with
myasthenia gravis—a condition called neonatal myasthenia. Generally, neonatal myasthenia gravis is temporary and the child's
symptoms usually disappear within two to three months after birth. Rarely, children of a healthy mother may develop congenital
myasthenia. This is not an autoimmune disorder (it is caused by defective genes that produce abnormal proteins in the
neuromuscular junction) and can cause similar symptoms to myasthenia gravis.
How is myasthenia gravis diagnosed?
A doctor may perform or order several tests to confirm the diagnosis, including:
• A physical and neurological examination. A physician will first review an individual’s medical history and conduct a
physical examination. In a neurological examination, the physician will check muscle strength and tone, coordination, sense
of touch, and look for impairment of eye movements.
• An edrophonium test. This test uses injections of edrophonium chloride to briefly relieve weakness in people with
myasthenia gravis. The drug blocks the breakdown of acetylcholine and temporarily increases the levels of acetylcholine at
the neuromuscular junction. It is usually used to test ocular muscle weakness.
• A blood test. Most individuals with myasthenia gravis have abnormally elevated levels of acetylcholine receptor antibodies.
A second antibody—called the anti-MuSK antibody—has been found in about half of individuals with myasthenia gravis
who do not have acetylcholine receptor antibodies. A blood test can also detect this antibody. However, in some individuals
with myasthenia gravis, neither of these antibodies is present. These individuals are said to have seronegative (negative
• Electrodiagnostics. Diagnostic tests include repetitive nerve stimulation, which repeatedly stimulates a person’s nerves
with small pulses of electricity to tire specific muscles. Muscle fibers in myasthenia gravis, as well as other neuromuscular
disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals. Single
fiber electromyography (EMG), considered the most sensitive test for myasthenia gravis, detects impaired nerve-to-muscle
transmission. EMG can be very helpful in diagnosing mild cases of myasthenia gravis when other tests fail to demonstrate
• Diagnostic imaging. Diagnostic imaging of the chest using computed tomography (CT) or magnetic resonance imaging
(MRI) may identify the presence of a thymoma.
• Pulmonary function testing. Measuring breathing strength can help predict if respiration may fail and lead to a myasthenic
Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or
delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is
restricted to only a few muscles.
What is a myasthenic crisis?
A myasthenic crisis is a medical emergency that occurs when the muscles that control breathing weaken to the point where
individuals require a ventilator to help them breathe.
Approximately 15 to 20 percent of people with myasthenia gravis experience at least one myasthenic crisis. This condition
usually requires immediate medical attention and may be triggered by infection, stress, surgery, or an adverse reaction to
medication. However, up to one-half of people may have no obvious cause for their myasthenic crisis. Certain medications
have been shown to cause myasthenia gravis. However, sometimes these medications may still be used if it is more important
to treat an underlying condition.
How is myasthenia gravis treated?
Today, myasthenia gravis can generally be controlled. There are several therapies available to help reduce and improve muscle
• Thymectomy. This operation to remove the thymus gland (which often is abnormal in individuals with myasthenia gravis)
can reduce symptoms and may cure some people, possibly by rebalancing the immune system. A recent NINDS-funded
study found that thymectomy is beneficial both for people with thymoma and those with no evidence of the tumors. The
clinical trial followed 126 people with myasthenia gravis and no visible thymoma and found that the surgery reduced muscle
weakness and the need for immunosuppressive drugs.
• Anticholinesterase medications. Medications to treat the disorder include anticholinesterase agents such as mestinon or
pyridostigmine, which slow the breakdown of acetylcholine at the neuromuscular junction and thereby improve
neuromuscular transmission and increase muscle strength.
• Immunosuppressive drugs. These drugs improve muscle strength by suppressing the production of abnormal antibodies.
They include prednisone, azathioprine, mycophenolate mofetil, tacrolimus, and rituximab. The drugs can cause significant
side effects and must be carefully monitored by a physician.
• Plasmapheresis and intravenous immunoglobulin. These therapies may be options in severe cases of myasthenia gravis.
Individuals can have antibodies in their plasma (a liquid component in blood) that attack the neuromuscular junction. These
treatments remove the destructive antibodies, although their effectiveness usually only lasts for a few weeks to months.
o Plasmapheresis is a procedure using a machine to remove harmful antibodies in plasma and replace them with good
plasma or a plasma substitute.
o Intravenous immunoglobulin is a highly concentrated injection of antibodies pooled from many healthy donors that
temporarily changes the way the immune system operates. It works by binding to the antibodies that cause myasthenia
gravis and removing them from circulation.
What is the prognosis?
With treatment, most individuals with myasthenia can significantly improve their muscle weakness and lead normal or nearly
normal lives. Sometimes the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate
emergency medical care.
Some cases of myasthenia gravis may go into remission—either temporarily or permanently—and muscle weakness may
disappear completely so that medications can be discontinued. Stable, long-lasting complete remissions are the goal of
thymectomy and may occur in about 50 percent of individuals who undergo this procedure.
What research is being done?
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about
the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a
component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world.
Although there is no cure for myasthenia gravis, management of the disorder has improved over the past 30 years. There is a
greater understanding about the structure and function of the neuromuscular junction, the fundamental aspects of the thymus
gland and of autoimmunity, and the disorder itself. Technological advances have led to more timely and accurate diagnosis
of myasthenia gravis and new and enhanced therapies have improved treatment options. Researchers are working to develop
better medications, identify new ways to diagnose and treat individuals, and improve treatment options.
Some people with myasthenia gravis do not respond favorably to available treatment options, which usually include long-term
suppression of the immune system. New drugs are being tested, either alone or in combination with existing drug therapies,
to see if they are effective in treating the disease.
Studies are investigating the use of therapy targeting the B cells that make antibodies (rituximab) or the process by which
acetylcholine antibodies injure the neuromuscular junction (eculizumab). The drugs have shown promise in initial clinical
Diagnostics and biomarkers
In addition to developing new medications, researchers are trying to find better ways to diagnose and treat this disorder. For
example, NINDS-funded researchers are exploring the assembly and function of connections between nerves and muscle
fibers to understand the fundamental processes in neuromuscular development. This research could reveal new therapies for
neuromuscular diseases like myasthenia gravis.
Researchers are also exploring better ways to treat myasthenia gravis by developing new tools to diagnose people with
undetectable antibodies and identify potential biomarkers (signs that can help diagnose or measure the progression of a
disease) to predict an individual’s response to immunosuppressive drugs.
New treatment options
Findings from a recent NINDS-supported study yielded conclusive evidence about the benefits of surgery for individuals
without thymoma, a subject that had been debated for decades. Researchers hope that this trial will become a model for
rigorously testing other treatment options, and that other studies will continue to examine different therapies to see if they are
superior to standard care options.
Article online at: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-
Your support means hope
The Muscular Dystrophy Foundation of South Africa is a
registered non-profit organisation which supports people
affected by muscular dystrophy and neuro-muscular
disorders. We assist affected persons and their families by
providing access to international information, workshops,
support groups, access to genetic counselling, referrals to
health facilities and providing assistive devices.
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. Individuals of either sex, all
ages and ethnic backgrounds can be affected by MD.
Contact us for further information:
Tel: 011 472-9703
(Gauteng, Free State, Mpumalanga, Limpopo & North West)
Tel: 011 472-9824
medical care products
Every year, August has a focus on Spinal
Muscular Atrophy or SMA
By Independent Living
Here is a quick overview of key information about the
What is Spinal Muscular Atrophy?
There are actually four different types of SMA, which vary
In all cases, though, the condition is genetically inherited,
and causes progressive loss of movement and increasing
weakness, as a result of muscle wasting.
The condition can affect the ability to walk, as well as
movement of the arm and hand, head and neck, breathing
A fault in the gene called Survival Motor Neuron 1 (SMN1)
causes spinal muscular atrophy. This gene carries the
information that is required for producing a protein called
Survival Motor Neuron (SMN) protein. Without this
protein, the nerve cells that help to control the muscles for
moving and breathing become damaged.
How do you get SMA?
You need to have a faulty SMN1 gene from both parents in
order to have spinal muscular atrophy, as it is a recessive
About one in 50 people carries the faulty gene – around 1
million to 1.5 million people in Britain.
Children born to two SMA carriers have a one in four
chance of developing the condition, and a one in two chance
of being a carrier themselves.
The four main types of SMA
Spinal muscular atrophy Type 1 is the most severe, and
symptoms appear very early in life. Children with this type
of SMA are not able to sit unaided and, without intervention,
rarely survive their second birthday.
SMA Type 2 starts to manifest itself in the first year or so.
It is a condition that causes serious physical disability, and
children with that cannot stand without help.
Improvements in understanding and care have led to a
situation where most people with SMA type 2 can expect
to have a productive and fulfilling life, even though the
condition may shorten life expectancy.
SMA Type 3 starts to show symptoms in early childhood,
and is less disabling than spinal muscular atrophy types 1
and 2. Children diagnosed with this type of SMA find their
ability to walk decreasing with time, but they have normal
SMA Type 4 develops in adulthood, and it is not
How many people are affected by SMA?
This is a rare condition. Worldwide, it affects one in every
6,000 – 10,000 babies.
Treatment of SMA
There isn’t a cure, yet, though a great deal of research is
going on. Meanwhile, the options available which aim to
manage symptoms, reduce complications and maintain
quality-of-life have been compiled into internationally
agreed Standards of Care for SMA.
In the UK particularly, extensive research into the
genetics of SMA has led to some breakthroughs in
developing treatments for the genetic fault that limits the
production of SMN protein.
Nusinersen, tradename Spinraza
Nusinersen is a new potential treatment for SMA, which
targets the SMN2 gene to produce more SMN protein. It
was developed by pharmaceutical companies Ionis and
Biogen, and there have been clinical trials with children
affected by SMA Types 1, 2 and 3.
Following these trials, earlier this summer the European
Commission approved nusinersen as a treatment for SMA
Types 1, 2, 3 and 4.
In the UK, this treatment can only be accessed through the
so-called Expanded Access Programme (EAP). It is only
available to children with SMA Type 1.
Whether there is wider availability in the future depends on
NICE (National Institute for Health and Care Excellence),
the Scottish Medicines Consortium, and other devolved
health authorities approving it for NHS funding.
Article online at: https://www.independentliving.co.uk/advice/sma-awareness-month/
Muscle Riders Appreciation Function
The annual Appreciation Function for the Muscle Riders
was held at Crawford College Lonehill on 17 November
2018. Muscle Riders gathered to collect their goody bags,
cycle jerseys and the all-important race packs.
Our little heroes who took part in the Kiddies Ride
in 2018 were also there to receive their Muscle
Riders teddy bears and certificates!
The day was very well attended and everyone enjoyed the
atmosphere. We would like to thank all those in attendance
and to everyone who contributed towards making the day
a huge success!
Muscular Dystrophy Awareness
Day at Kabouterland!
By Veronica Van Staden
Tiaan van Staden is a young boy affected by Duchenne Muscular Dystrophy.
On Rear Diseases day, the 28th of February 2019, Tiaan’s sister, Mia, created awareness about Muscular
Dystrophy at her School Kabouterland which is situated in Middelburg, Mpumalanga.
The Headmaster of Kabouterland, Mrs Sanet Van Rensburg, said that "They are privileged to help in any
way and are holding the families affected with this disease in their prayers”.
The Van Staden family wishes to thank each and every person who creates awareness about Muscular
Dystrophy and Rare Disease Day each year! A special thank you to Mia’s teacher, Mrs Ilze Smit, for her
kind heart and the beautiful photos. Your love and support means the world to the parents of each child
Making the most of life for us is turning out not to be
trips to Disneyland or rides in chinook helicopters
but enabling Tom to walk his dog, still visit the
allotment with his grandad, go fishing with his dad
and play outside with his sister. The simple things.
Living in the moment takes on a different resonance
when your child has a progressive, life-limiting
condition. We know we should make the most
of each day, stop and smell the roses with our
children, as Duchenne forces them to slow, and live
a life full of love and laughter. But in reality, this is
just the time that life gets harder, when housing
adaptations, care plans, hospital appointments,
drug trials (if we are lucky) and increasingly
divergent needs of siblings overwhelm us and
threaten to obliterate our patience.
Over the past year Duchenne has wreaked its
damage and our son Tom has lost a lot of function.
We have tried hard to find ways to keep Tom happy,
socially included and resilient and wanted to share
what has helped us.
in the Moment
The dog! After a disastrous start with an
assistance dog from a charity that had to be returned,
we bought Lily the Labrador when she was 6 months
old and found an amazing dog trainer who agreed
to train her specifically to meet Tom’s current and
future needs. Unprompted, Tom’s Cub pack kindly
raised money to help fund this training. The past 8
months have been extremely challenging as Lily has
knocked my daughter Amy over and broken her foot,
chewed shoes, clothes and carpets, chased horses,
jumped our fence and devoured the whole contents
of a strangers barbecue! But during training she is
faultless and the happiness and purpose she has
brought to Tom’s life has been remarkable. The
arrival of the manual wheelchair has been eased by
training Lily to walk alongside it without biting the
wheels, stiff legs at night have been soothed by the
warmth of Lily’s body as she sleeps next to Tom,
and feeding and grooming her have given Tom
responsibility. In time Lily will accompany Tom into
school, shops and hospital as his assistance dog
and remain steadfastly by his side.
The hospice. The first time I visited our local
children’s hospice last year, the tears streamed
and did not stop, but I have come to learn that
hospices offer a variety of support services that can
really help all family members. We now go as a
family to use the hydropool and also access community
respite which means that once a month a
wonderful, fun person comes to our house to play
with Tom and Amy or take them out on a trip.
Listening to our needs, the hospice has also set up
a support group for 4 Duchenne boys of a similar
age to go and play and talk together under the
supervision of a counsellor qualified in play
The off-road wheelchair. Watching Tom lose function and
struggle has for me at times been unbearable. The moment I realised
he could no longer easily access a beach, fishing lake, woodland
and our road, I knew we had to act. Turned down by most of the
wheelchair charities for an off-road model, we set up a Go Fund
Me page and after clothes sales, a ball and hugely generous
donations by friends, family and strangers alike, we bought Tom his
mean, cool, orange terrain hopper. Making the most of life for us is
turning out not to be trips to Disneyland or rides in chinook
helicopters (although this is scheduled for the summer thanks to
the Make a Wish Foundation) but enabling Tom to walk his dog, still
visit the allotment with his grandad, go fishing with his dad and play
outside with his sister. The simple things.
This entry was posted by Duchenne UK .
A Day in the Life
of a Person with MG
BY RETHA DE WET
What is the first thing you do when you
You might have answered, “I take a shower” or “I
drink coffee.” However, the first thing everyone
does when waking up is to open the eyes. It is a
movement so simple that most of us take it for granted
— until the ability to do so has been compromised.
For someone living with myasthenia gravis, even
opening our eyes prior to taking the right medicine is
a massive struggle. Sometimes, even when we can
open our eyes, we have double or blurry vision. This
is because MG causes muscle weakness, which
includes the muscles in our eyes. Being unable to see
clearly, despite our best efforts to squint or move
closer to a specific object, can be demotivating at
As I have said in a previous column, MG
teaches us patience. With rest, our symptoms
can improve (although improvement does not
necessarily mean they disappear.) Luckily, I have
found other remedies. Applying ice packs to my
eyes or wearing an eye patch (if only one eye is
affected) may help.
The next part of the day is getting out of bed.
This also is difficult for someone living with MG,
as we might suffer from generalized weakness
as well. This means that all the muscles we can
willingly control may be affected. This includes
arms, legs, the neck, and others. Having weak
arms and a weak core makes getting up from a
lying position much more difficult. Think about how
a healthy person would move if they had weights
attached to their limbs; it would be slow and
laborious. That is what moving with MG feels like.
Eventually, we have to eat. This activity may also be
influenced by MG. As I take my first bite, my arms
feel heavy while I lift the spoon, and my lips struggle
to stay closed. Sometimes this causes food to spill
from my mouth or my spoon. Eventually, I try to chew,
but with every bite, I feel my cheeks and tongue
becoming more tired. This sometimes leads to
choking and violent coughing, which are both
As I swallow, I may experience food getting
stuck in my throat because my muscles are
too weak to force it down. I have found that
adjusting my diet helps most with these
symptoms. I try to avoid hard-to-chew foods like
beef jerky and excessive helpings of cooked meat.
I have swapped my porridge in the morning with
yogurt, and I try to eat only after I have taken my
first Mestinon (pyridostigmine) tablet for the day.
Then, I have to walk down the stairs from my
apartment to my car. The figurative weights on my
legs seem to get heavier with each step, and by the
time I reach the bottom I am gasping for air. This is
because the diaphragm, the muscle that helps to
exhale, is also affected by MG. Not only is seeing,
moving, and eating difficult, but breathing is, too!
This is the reality of living with MG. Activities we are
required to do daily become strenuous tasks that can
leave us exhausted before the day has even started.
Luckily, MG does not affect the functioning of
our brains. We are always in control of how we
choose to respond to these symptoms. That
does not mean that there aren’t days when we
are overwhelmed by all these symptoms. It simply
means that we can control our thoughts. How
our friends and family react to our symptoms
also can affect how we perceive them. Support is
a pivotal part of managing any chronic illness.
Never forget that life is beautiful. Always keep fighting.
This entry was posted on 11 January 2019 by Retha
De Wet in A Good Life with Bad Muscles - A column
by Retha De Wet.
Living Independently With CMT Requires Creative
Thinking — and a Few Handy Gadgets
At 22, when I graduated from college, I, like so many
of my fellow millennials, moved back home. I spent
two transitional years in the room where I’d grown
up, unicorn wallpaper still casting magic above the
bed, and then, one weekend, I packed my clothes and
I’d lived alone in my college town, but my first
apartment in Omaha, my hometown, was the first
apartment for which I bought new furniture (a loveseat
and a bed — the books and the stereo got plunked on
the floor). My boss at the time gave me a round wood
table and chairs and a mid-century modern armchair
I put in my ramshackle bedroom. The closet was a
mess of saddle shoes and skirts and handbags, I
survived on cereal and Diet Coke, and I was doing the
thing, finally, without a safety net.
I’ve lived in six apartments in Omaha now — three
on my own, the fourth with a boyfriend, and two more
on my own after him. The most recent became home
just this July, and it’s my favorite of them all — high
ceilings, a sunny balcony, a westward view of
Nebraska’s nightly showstopper sunsets. The
furniture matches. Things live properly on bookcases
and shelves. There’s art made by my friends on the
walls of every room.
BY LINDSEY BAKER
In my dozen years of living independently, I’ve learned
how to keep things tidy (a minimalist approach goes
far). I’ve learned how to cook. I can host a nice
little party. I learned, after a doubtful beginning,
domesticity. I’ve also become less able to manage it.
In the reverse universe that is living with a
neuromuscular disease, as my skill set grew, my
ability shrank. I can make a fantastic vegetarian,
gluten-free shepherd’s pie — just not on my own.
Three sets of sheets is indeed the exact right
number to have for each bed in the house — but I
can’t smooth them out, or even fold them, anymore,
neatly for the drawer.
This year, 17 years after my Charcot-Marie-Tooth
disease (CMT) diagnosis, I use a walker full-time,
meaning I don’t cheat anymore hugging the wall from
the bedroom to the bathroom — I use the walker
now. My new apartment is bigger, but that means it
has fewer easy handholds and supports. Space has
forced me to lean, finally, on all of my support.
I have an assistant who comes weekly to help with
chores and errands, but most of the time, I’m by
myself, working at my desk, cooking in the kitchen,
reading on the balcony.
I can do things. I can do the thing — independent
living — but it’s taken some creative thinking. The first
time I saw my new apartment, I knew I couldn’t live
in it without finding a solution for the shower. It’s a
standing design, but an internal built-in bench doesn’t
come close enough to the shower’s edge for me to
use it as an entry and exit point. Because foot drop
prevents me from stepping over the low ledge at the
shower’s base, I need a seat on which to pivot in and
so I’ve started putting a trivet on my walker’s seat to
make the transfer from stovetop to elsewhere. Years
ago, my mom gave me a long wooden kitchen ruler
with a hook at one end designed to pull out a hot
oven rack; that hook has come in handy pulling down
rolls of paper towels from cabinets or chasing bits
of dried pasta that roll into corners. And utilizing a
tip from my grandmother, who lives with advanced
arthritis, tongs can pick up bits and bobs off the floor,
too — and, when they’re soft and silicone-tipped, can
gently retrieve an egg from a carton.
I automate as much as I can — electric can and wine
openers and stand-mixers are crucial. I have a
multi-piece chopper/food processor/blender that
works with a simple motor that fits on top and has just
one big power button to press. Lights and the stereo
are connected to an Amazon Echo that lets me settle
in, shoes off, without having to get up for much.
In this, I got lucky. My dad is a retired architect. He
called a contractor friend, sent a few photos of my
shower and a few sketched thoughts along, and
together we designed a custom-made shower bench
of sturdy, water-resistant materials that safely solved
the problem of egress. I also looped in my apartment
building’s head of maintenance, Rex, to add a
grab bar that was thinner than standard bars — my
hand contractures don’t allow for a wide grip. Patient
and even more creative than I when it came down to
what Menard’s was stocking, Rex delivered a slim
industrial bar that is, I gotta say, the coolest assistive
bar in the Middle West.
Reach and grip have become tricky business in other
rooms. My kitchen is just a little too wide to turn in
when one’s got bad balance and a hot pan in hand,
It’s true that I don’t, anymore, make elaborate
dinners. My parties now are all of the cocktail-andsnacks
variety. I vacuum from a chair, and not often.
I ask for a lot more help. I’m a little embarrassed to
admit the thing about the tongs.
But what I’m saying is, I’m here. I’m figuring out how
to be here. There aren’t solutions for every problem,
but there is that.
There are ways, if you’re open to them, to be just
you, at home, and pretty comfortable at that.
Article posted online by the Muscular Dystrophy
Association, 20 September 2018, at: https://
Tracey has achieved an extraordinary level of
success in her chosen sport, 10 metre air rifle target
shooting. In 2014, she talked to us about how the
sport helps her to travel around Australia and meet
different people and helps others to see past her
Winning a bronze medal in my first interstate
competition in Sydney last year competing against
Olympic champions; Becoming Queensland State
Champion in late 2013 and achieving 3 personal
bests and 2 bronze medals at the International
Grand Prix Sydney in February this year. I also love
it when strangers approach you at the airport to ask
about your medals (which I always wear home…if
you’ve got them, why not show them to the world)
and ask if they can have a photo with you to show
their family. Now I would have to say that’s pretty
How did you first get involved in shooting?
I have always had a secret love for guns, big ones or
small, anything with fire power. I had only ever shot
one rifle in my life before this and loved it. So when
Muscular Dystrophy Queensland sent me a notice
for a “come and try” weekend at Belmont Shooting
Range last year I accepted with much excitement
and anticipation. I had set my mind on shooting
pistols however when I got to try one I found it
way too heavy for me. I was devastated because
I so badly wanted to shoot. The assistant Olympic
Coach was there on the day and asked me if I would
like to try shooting a rifle. I was given a stand to rest
the rifle on and fired off half a dozen shots. To my
amazement my grouping (shooters talk) was very
good, enough to impress the Olympic Coach. He
asked me if I would be interested in coming back
and getting involved in shooting as a competitive
sport and well the rest is history. I haven’t stopped
since that day and I love it so much.
Why do you love shooting?
Whether it’s for fun or in competitions, club shoots
or interstate this is the best thing I have ever done. I
thought my calling was in drag racing (another story
in another life) now I would have to say shooting is
my calling, fancy finding this out so late in life – not
that I’m old! I just mean with my inability to do things
as well anymore, I find shooting and I’m rather good
at it. Not to mention I LOVE IT. Shooting has opened
a door for me to enjoy myself with people that have
a love for the same thing as me. Other people see
me as just another person and not the disabled
person in a chair. I find shooting a way to de-stress
and even though competitions are stressful, when I
shoot I’m in my own little world and I find it relaxing
and yet very exciting at the same time. I can’t wait
to get to training every week and wish I could do it
uniform expenses. There are other grants out there
and I’m always on the look out for them. At the
beginning of the year I sat down and worked out
my schedule and estimated costs then I went
looking for grants etc. and put together a budget for
the year. It’s always good to be prepared.
Article posted online by Muscular Dystrophy
Queensland, at: http://mdqld.org.au/neuromuscular-condition/stories-shared/tracey-right-on-target/
Observations and obstacles:
Since getting the chance to travel around
Australia, something I haven’t done much of in my
life, I have found flying really easy. The airlines are
very good when it comes to people like us (special),
you just have to ask and so far I haven’t had a
problem. Now, finding accommodation, well that’s
not so easy. When you’re looking for a room always
call and ask for photos – especially of the bathroom
because some places haven’t got a clue.
You’re probably wondering how I manage funding
my travel on a pension. I am always looking for
grants to help in any way. Last year I received a
grant for my shooting jacket from Sporting Dreams
Foundation. I am also a member of the Sporting
Wheelies Association who help with travel and
The WCCS UJ Chapter held their
annual golf day at the Benoni
Country Club on 13 March 2019.
A portion of the proceeds will be
donated to MDF Gauteng. We wish
to thank all those in attendance for
their amazing support!
Pieter Joubert was the long-time General Manager
of the Gauteng Branch of the Muscular Dystrophy
Foundation of South Africa (MDF). Pieter himself
was affected by facioscapulohumeral muscular
As a result of this, Pieter had been in a wheelchair
for more than a decade; however, this did not stop
him from dedicating a large portion of his remarkable
life to the MDF and the service of its members
for more than 20 years.
Pieter experienced an unfortunate health setback
during the week of 12 November 2018 and was admitted
to the Life Flora Clinic ICU. After a long fight
he unfortunately passed away on 3 January 2019.
Pieter’s history with the foundation stretches as far
back as 1995 when the MDF consisted only of a
national office to represent the entire country. He
was consistently involved with the MDF over the
years, playing a pivotal role in establishing the
Gauteng office as well as serving on its committee.
MDF Gauteng Branch took the bold move to create
a position for a General Manager, a position Pieter
filled with pride and tremendous success. He became
very well known amongst the members of the
MDF, not just in Gauteng but across the country.
In 2008, MDF Gauteng was well established and
under Pieter’s leadership started implementing a
strategic growth strategy to expand the services
of the branch. They took the bold move to submit
a business plan and motivations to the National
Lotteries Board (Lotto) for funding to buy a
property. Lotto did not adjudicate this application
until early 2010 when they announced that not just the
funding to the purchase of the property was approved,
but also funding for the full refurbishment and
conversion of the property.
MDF Gauteng took ownership of a suitable
property situated on Ontdekkers Road, Roodepoort
in January 2011 where Pieter immediately
undertook the demanding task of the refurbishment
project to ensure that the building provided not only
suitable offices for the Gauteng Branch and the MDF
National Office but also full accessibility for people
with disabilities. This office became the centre hub
of the MDF and is now well known and established
among the MDF and members and the community
in which it is located.
Throughout this time, Pieter served as vice
chairperson on the Gauteng executive
committee and as a member on the national executive
committee, ensuring the implementation of the
organisation goals and objectives. With the
significant growth that was experienced, the MDF
Gauteng Branch decided to create a position for a
general manager, a salaried employee, which was
made financially possible only due to Pieter’s hard
work, fundraising efforts and complete dedication.
The committee encouraged Pieter to apply for the
position and he became the very first general
manager of the MDF Gauteng Branch, a position he
filled with pride and incredible success.
With competent salaried employees, a well-established
location and respected brand, the MDF
Gauteng Branch grew from strength to strength and
was able to increase the fulfilment of its obligations,
and in line with the branch’s strategic goals, Pieter
employed the first permanent social worker in order
to reach out to the members in Gauteng at home,
establish support groups and bring in new affected
The appointment of the social worker increased
the branch’s line of sight to our members and
Pieter soon realised that it was essential to increase
this service to reach more members. With this
knowledge, Pieter provided reasons and
successfully applied to the Department of Social
Development (DSD) for a social worker grant, which
enabled the branch to employ more social workers
and candidate social workers. This placed four
social workers on the ground, and with Pieter’s
meticulous attention to detail and fanatical reporting
back to the DSD, the grant was renewed annually
for the last five years.
Pieter was a very competent manager, which
stemmed from his extensive employment
history and qualifications, and he was always very
sensitive to the financial challenges any non-profit
organisation (NPO) faces in South Africa.
He always managed the branch’s finances with care
and respect to the donors that funded the organisation,
and always fulfilled a fundamental basic
principle of acknowledging and thanking even the
smallest donor, whether in money, materials or time.
He simply believed in building sound relationships
with all stakeholders, based at all times on sincere
respect and dignity.
For that reason Pieter built up a long list of
donors, who donated to the MDF on a regular basis,
simply because of the trust that he instilled in
people, who knew that the funding was managed in a
responsible way and was applied appropriately to
the needs of the MDF.
He built up significant networks across the
boundaries of organisations to other NPOs,
companies, service providers and the like, and many
of his successes can be credited to this consistent
interest and passion for the cause which he worked
for, all the time with respect and dignity to all.
Seasoned committee members for many years
would contact him and obtain advice and guidance.
He was truly a doyen in the world of NPOs which
is very much because of his love for the organisation
and the members he served. For many of our
members, the MDF was Pieter, and Pieter was the
However, Pieter was a lot more than his work with
the MDF. He was a husband, father and friend to
many people. Those who had the privilege of having
him in their lives will always remember him fondly.
Robert Scott, who worked alongside Pieter at the
MDF, said: “I will always remember him as more
than a colleague, he was my friend and I will miss
him a great deal.”
Win van der Berg, Chairperson of the Cape Branch
committee, had the following to share: “Pieter will
always hold a special and dear place in my heart.
In the early years we worked closely together when
things were really difficult to manage and we were
feeling our way along in pursuit of providing support
and equipment to our Muscular Dystrophy friends.”
She added: “He was a brilliant friend whom I could
call on whenever I needed someone to sound off on
any new ideas or thoughts. In times of trouble he
was by my side always ready to commiserate and
cheer me up. In good times we shared in the spirit
of achievement. He far outpassed me in matters of
fundraising for the Gauteng Branch. A fact I'm still in
awe of today. The branch was so lucky to have such
an exceptional person within their ranks. It's always
too soon to say goodbye especially to such a very
dear and special friend.”
Gerda Brown, General Manager of the National
Office, remembers Pieter fondly and had the
following words to say: “It is so difficult to write
something about Pieter because how do you
capture his spirit in words. He had such a big
spirit. He had such a big personality. My journey
with Pieter began when I joined the Muscular
Dystrophy Foundation, first as a committee member
for the Gauteng Branch and later as a colleague and
friend. I have learned so much from him. He had
vast knowledge about muscular dystrophy and was
loved by everyone who crossed his path. The MDF
house is empty without him.”
Lee Leith of the MDF executive committee had the
following to say when remembering Pieter: “I have
a smile on my face when I remember Pieter’s bright
eyes, wide smile and ready laugh. He had such
wonderful characteristics. He was a man of few
words but those words meant so much to fellow
colleagues as he had such a wise way of
simplifying problems. He was a good friend to
see each year when those of us who lived far
away, like Cape Town, would meet for our annual
general meeting and strategy planning. Recently our
meetings have been held via Skype and we would
exclaim, ‘Good, there is Pieter in the front row!’
Often a phone call to him gave reassurance to those
who were affected by this disorder, through his own
experience of the disease. He gave confidence to
those who shared the challenge of working with the
Muscular Dystrophy Foundation. Thank you Pieter,
we will miss you.”
Christo Dippenaar, MDF member, said: “I believe
you can find some peace in the words that Pieter is
in a better place than us, where there is no pain. In
1 Thes. 4;13 Paul said, “We grieve not as those who
have no hope”. In other words, we’ll meet again in
All those who knew Pieter had the same blessing in
that he affected their lives in a positive way. He will
be deeply missed and never forgotten.
Top 10 Muscular Dystrophy Articles of 2018
By Jose Marques Lopes, PHD
Throughout 2018, Muscular Dystrophy News Today
provided daily coverage of new therapeutic strategies,
clinical trials, and other topics related to muscular dystrophy
As we look forward to reporting more news to patients,
family members, and caregivers dealing with MD in 2019,
here are the Top 10 most-read articles of 2018, with a brief
description of their relevance to the MD community.
No. 10 – “Acceleron’s ACE-083 Therapy Candidate
for FSHD Earns FDA’s Fast Track Designation”
An investigational treatment for facioscapulohumeral
muscular dystrophy (FSHD) called ACE-083 was
granted fast track designation by the U.S. Food and Drug
Administration. ACE-083 is a locally-acting compound
that inhibits proteins in the TGF-beta family, such as
myostatin. This action is intended to increase muscle strength
in FSHD patients, who have skeletal muscle weakness and
loss. The designation aims to accelerate the development of
promising therapies for conditions with serious unmet needs.
It was based on the positive results of the first part of a Phase
2 clinical trial (NCT02927080; see No. 3 on this list).
No. 9 – “Family’s Quest for ‘Overlooked’
Duchenne Treatments Leads to Breast Cancer
In August, we published a story on the use of the breast
cancer therapy – tamoxifen – to treat Duchenne MD (DMD).
Tamoxifen is a selective estrogen receptor modulator
hormonal therapy that, when used with Evista
(raloxifene), improved cardiac, respiratory and skeletal muscle
functions, and increased bone density in a mouse model of
the disease. Our article focused on Gavin Ward, an 8-yearold
boy who was one of the first DMD patients in the U.S. to
receive tamoxifen. He started this treatment six weeks after
diagnosis. His father, Bruce, said Gavin’s hand grip
strength and exercise capacity markedly improved with the
therapy, and he also grew 2 inches and gained 9 pounds.
His pediatrician, Vikki A. Stefans, MD, said that, unlike
steroids, the chances for significant side effects with
tamoxifen in males are not high. Two studies are being
conducted to evaluate tamoxifen in DMD, one of which
is a Phase 3 trial (NCT03354039) that is still recruiting
participants in Germany and Switzerland.
No. 8 – “Givinostat Phase 3 Trial Recruiting
Duchenne Patients in North America, Europe”
Givinostat is an investigational therapy intended to boost
muscle regeneration in DMD patients. A multicenter,
international Phase 3 trial (NCT02851797) on this
treatment by Italfarmaco is enrolling boys older than 6 years.
Givinostat’s ability to slow disease progression will be
evaluated, measured by a change in the time taken to climb four
stairs after 18 months of treatment. Other functional tests will
be conducted, and muscle tissue will be analyzed by imaging.
Givinostat is an inhibitor of enzymes called histone
deacetylases (HDACs), which changes the 3D folding of
DNA. Patients with DMD have higher-than-normal HDAC
levels, which may prevent muscle regeneration and proper
muscle contraction. An earlier Phase 2 trial (NCT01761292)
showed that one-year treatment in boys ages 7-11 slowed
their disease progression, among other benefits.
No. 7 – “New CRISPR Strategy Corrects Wider
Range of Mutations Responsible for DMD”
A gene editing strategy based on the CRISPR-Cas9
technology restored dystrophin production and contraction
force in heart muscle cells of DMD patients. The new
approach, called myoediting, targets the top 12 “hot spots”
of mutations along the DMD gene so that a wide region
of these hot spots is skipped from the final dystrophin
protein. The team from the U.S. and Germany found that
editing only 30-50% of heart muscle cells was sufficient to
restore their cardiac function to near-normal levels. Exonics
Therapeutics has licensed the new method, aiming to
develop it for DMD and other neuromuscular disorders.
No. 6 – “UT Researcher, with Cure Duchenne
Support, Launches Company to Treat DMD Using
In April, we reported the launch of Exonics, which resulted
from a collaboration between Eric Olson – a scientist with
a long career in muscle biology and the director of UT
Southwestern’s Hamon Center for Regenerative
Science and Medicine in Dallas – and the nonprofit group
CureDuchenne. The new company is using the
SingleCut CRISPR-Cas9 technology aiming to correct up to 80
percent of the 3,000 mutations that cause DMD. “We are
really encouraged about the data suggesting this can be a
life-changing therapy for patients who need it,” Olson
said. Olson’s work had been supported by Parent Project
Muscular Dystrophy (PPMD), a nonprofit group. The
scientists will assess the method’s safety, whether it
generates an immune response, and also if the benefits are
stable. “We believe it will be, particularly in the heart,”
No. 5 – “Sarepta’s Gene Therapy Improves
Muscle Function in 4 Boys with DMD, Phase 1/2
Four boys with DMD treated with a single dose of Sarepta
Therapeutics’ intravenous gene therapy in an ongoing Phase
1/2 trial (NCT03375164; see No. 4 and No. 1) showed
improvements in all four functional parameters tested –
such as time to rise and the four-stair climb test – as well
as a pronounced increase in dystrophin production in their
muscles. The potential treatment, called AAVrh74.MHCK7.
micro-dystrophin, delivers a version of the DMD gene that
is shorter but still able to restore dystrophin’s function. It
specifically targets muscle tissue, in particular the heart
muscle. The four boys also showed a marked decrease (more
than 78%) of blood levels of creatine kinase, a marker of
muscle inflammation. No serious adverse events were
reported. The company plans to start a confirmation trial,
which, if successful, may make the new therapy available
for DMD patients.
No. 4 – “Microdystrophin Gene Therapy Shows
Promising Interim Results in Phase 1/2 Trial”
Our No. 4 article of 2018 covered preliminary findings of the
Phase 1/2 trial of Sarepta’s DMD gene therapy, developed
by scientists at Nationwide Children’s Hospital (see No. 5
and No. 1). The study’s design included two groups – one
with have infants and toddlers ages 3 months to 3 years, and
the second with children 4 to 7 years old. Muscle biopsy at
three months revealed that the first three boys treated (ages
4-7) had robust (76.2%) microdystrophin gene expression
in muscle tissue. As found later in the trial (see No. 5), all
three patients showed a significant decrease in blood levels
of creatine kinase, suggesting effective muscle protection.
No. 3 – “Acceleron Therapy Increases
Facioscapulohumeral Dystrophy Patients’ Muscle
Mass, Trial Shows”
Besides its fast track designation described in No. 10 of
this list, the Phase 2 results of Acceleron’s ACE-043 also
received significant interest from our readers in 2018. The
main goals of the dose-escalation study (NCT02927080)
were to see if the FSHD treatment candidate was safe
and if it increased the patients’ muscle mass. Preliminary
results from 23 patients revealed that injecting ACE-083 once
every three weeks into the lower leg’s tibialis anterior and the
upper arm’s biceps brachii increased muscle mass by
12.6% and 13.2%, respectively. An associated decrease in
muscle fat was also observed. No serious adverse effects were
No. 2 – “Pfizer Launches Phase 1b Clinical Trial for
Mini-Dystrophin Gene Therapy to Treat DMD”
The start of Pfizer’s ascending dose Phase 1b trial
(NCT03362502) of an investigational mini-dystrophin
gene therapy was the second most-read article of 2018.
PF-0693992 is a shortened version of the DMD gene,
which uses a carrier – the adeno-associated virus serotype 9
capsid – known for its ability to specifically target the
muscles. Twelve boys ages 5-12 years were included. The
first patient received the intravenous therapy on March
22. The scientists will assess the therapy’s safety and
tolerability, dystrophin’s expression and distribution, and
muscle function and strength. Results are expected in the
first half of 2019, when all patients will have completed one
year of treatment.
No. 1 – “Young Boy Becomes First DMD Patient to
Receive Investigational Systemic Microdystrophin
Our most-read article of 2018 reported the start of the Phase
1/2 trial (NCT03375164) testing Sarepta’s microdystrophin
gene therapy for DMD patients (see No. 4 and No. 5).
Besides muscle biopsies at baseline (the beginning of the
trial) and three months of treatment, the study design
included safety assessments up to three months after therapy
delivery. PPMD partially funded the trial through a $2.2
million grant. Other funding and support was provided by
At Muscular Dystrophy News Today, we hope these news
stories, along our reporting throughout 2019, contribute to
informing and improving the lives of everyone dealing with
Article posted online by Muscular Dystrophy News Today,
2 January 2019, at: https://musculardystrophynews.
Sex – A guide for Parents
By Robert Scott
You find yourself in the position that parents all over the
world eventually find themselves in – your child has reached
that stage in life where their sexuality is starting to rouse.
In this article we will look at different ways of dealing with
your adolescent’s sexuality as well as various strategies.
This is not a foolproof strategy but it will assist you as a
parent in managing a topic that causes many parents to feel a
little uneasy. This guide is to help you as a parent of a child
with a neuromuscular disorder.
The time has come to face the dreaded “talk”. This may
make you feel uneasy and you are not sure what to say. This
talk will be a little awkward whether you want it to be or
not. Your teenager will give you the characteristic eye-rolls
and you may even hear “do we really have to talk about
this?” One crucial thing to remember is that you have been
involved with your child’s sexual development all along from
when you told them about how boys and girls are different,
but as time goes on this becomes increasingly complicated
when you need to start addressing issues such as sexuality,
dating and sexual relationships.
What you need to remember is that your teen needs
answers and you are in the best position to answer them! Just
remember to be honest and answer questions as best you
can. Also, it is important to remember that this needs to be a
conversation, so do not attempt to force your child to
see things the way you do. If you keep this in mind the
conversation will be easier and constructive.
Muscular Dystrophy Canada (2013), in their booklet Let’s
talk about sex: a resource for parents, says the following:
Puberty is a critical stage in your child’s development.
Your teen’s body is maturing. However, depending on
the type of neuromuscular disorder, this physical turning
point may occur later for your child than for others of the
same age. For example, boys with Duchenne muscular
dystrophy often have plump, hairless faces, making them
look younger than their peers.
It is important to keep in mind that despite her or his
physical disability, your child is becoming an adult, a
sexual being capable of reproduction. The hormonal
development that comes with puberty happens to all
adolescents. These changes inevitably lead to an
exploration of one’s own body and the accompanying
sensations, including masturbation. This can
sometimes be more complicated for young people with
neuromuscular disorders because of a lack of
coordination, spasms, pain or muscle weakness.
If you are comfortable discussing this very intimate
subject with your teen, you should know that there are
technical aids, such as body harnesses, that can facilitate
Sexual identity and body image
Your adolescent is reaching that stage in life where they are
adjusting to the new body image that comes with puberty and
this will involve many mixed emotions.
Your teenager will also try to exert greater independence;
however, remember to keep a balance between letting them
spread their wings and also obeying your authority and rules
as their parent.
The media will also have an impact on how they see
themselves. Muscular Dystrophy Canada (2013) elaborates
on this topic:
Teenagers often compare themselves to others while at the
same time wanting to stand out. Since children affected
with a neuromuscular discorder [sic] have significant
physical differences, they may struggle to find ways to
make themselves more attractive to others. Like all teens,
they must learn to accept their new body image as well as
the differences related to their disability. The enormous
pressure exerted by media-driven images of beauty can
create inferiority complexes, so it’s important to talk with
your teen about issues surrounding appearance and how
comfortable they are in their “own skin.”
Concerning stereotypes that your teen may face, Muscular
Dystrophy Canada (2013) elaborates as follows.
When someone does not match the typical
stereotypes of beauty, they run the risk of developing low
self-esteem, eating disorders and even depression. These
stereotypes are often reinforced by media advertising,
movies and even fairytales heard at a very young age.
You should make your child aware of the dangers of such
stereotypes and make it clear that only a very small
percentage of people actually meet these media-driven
standards of beauty. You could look at some images
together and encourage your teen to develop a critical view
of advertising, or watch the videos on the Dove website. This
way, your child will be better equipped to face stereotypes.
Your teen’s sexual orientation
Your teen will go through a stage of discovery where they
may begin to question their own sexuality. They may be attracted
to others of the same sex, opposite sex or even both
sexes, or they may not be attracted to anyone at all.
It is crucial to remember that there is nothing wrong with
how your teen feels, and during this time they may even start
to worry about rejection by their peers.
If your teen is not comfortable discussing this with you, help
them find someone they can talk to.
Relationships and online dating
Relationships can be tricky no matter what your age. This
is even more so when you are a teenager in the throes of
puberty and sexuality, with hormones running wild. You
need to tell your teen the important things such as knowing
their own limits and respecting themselves as well as others.
Muscular Dystrophy Canada (2013) also addresses the
following important factor relating to the child’s
expectations of a romantic partner:
His or her romantic partner is not a replacement
for you. If they are looking for someone who can
provide the same care and attention that you do, there
is a real risk the relationship will go awry. In love,
one should desire the other person without always
expecting to be taken care of as in a nurse/patient
relationship. Talk to your teen about her or his
expectations in a romantic relationship and the role of
In today’s age of technology, online dating has become more
prevalent than we may care to admit. This may seem like an
even more attractive option for a teen with a neuromuscular
disorder. However, the online world can be an extremely
dangerous place and it is important to make your teen aware
of the potential dangers.
One of the most popular trends has become the sending
of nude photographs, and your teen should be told that
this is a serious no-no. Additionally they should not send
personal information that could enable a stranger to find them,
and if they ever want to meet up with someone they should
always arrange to meet in a public place and have a trusted
person accompany them to avoid any dangerous situations
that could otherwise arise.
The subject of sex needs to be approached properly with your
teen. It is important that you and your teen be aware that
penetration does not need to take place in order to have a
sexual relationship – examples are masturbation and body
A subject that needs to be looked at is that of birth control.
There are many options available that can prevent unwanted
pregnancy and the transmission sexual diseases.
The various types of birth control are listed by Muscular
Dystrophy Canada (2013) as follows:
The birth control pill, the patch and vaginal rings:
These methods prevent ovulation, thereby reducing the
risk of fertilization and pregnancy. However, they are not
recommended for your daughter with a neuromuscular
disorder because they may increase the risk of blood clots.
Depo-Provera: This is an injection given four times per
year. It is likely to stop menstrual cycles after the first year
of use, so it’s practical in terms of hygiene. It also contains
no estrogen, a hormone that can cause blood clots. On the
other hand, it’s important to note that this treatment may
reduce bone density, so your doctor might recommend a
calcium supplement. When injections stop, Depo-Provera
may remain active for another nine months and continue
to prevent fertilization.
The IUD (coil): This method is available in two
forms, with or without hormones. Like Depo-Provera,
the intra-uterine device with hormones contains only
progesterone and may therefore be a good option.
Whichever form is chosen, it works for five years.
One drawback is that it must be checked regularly to
ensure the two “arms” of the device are staying in place.
Furthermore, bleeding may occur between menstrual
periods in the first months after implantation by the doctor.
The diaphragm: This method requires a significant
amount of manipulation. A doctor’s advice is needed to
determine the correct size. When properly used, it creates
a sperm barrier. For greater effectiveness, a spermicide
should also be used.
Condoms: This is the only contraceptive available for
males. Condoms vary greatly in size, texture, colour, etc.
Most are made of latex, but people who are allergic to
latex can choose polyurethane condoms. This method
protects against some sexually-transmitted and
blood-borne infections (STBBIs). Please note that if a
lubricant is used with a condom, it must be water-based.
The female condom: This method offers the same
advantages as the male condom: it’s very effective against
STBBIs and unwanted pregnancies. A gel lubricant is
recommended for added comfort. However, installing the
female condom can be challenging and a few tries may
be necessary. The female condom is also more expensive
than its male counterpart.
The issue of abuse
It is important to remember that people with any physical
disabilities are in a vulnerable position and may be open
to sexual abuse. This is even more so in cases where the
individual requires personal care as the people providing this
care could take advantage of the situation. You should make
it clear to your child that if they experience anything that
makes them uncomfortable they should tell you immediately.
Furthermore, it is a good idea to ensure that they know the
difference between what is appropriate and what isn’t. Sexual
abuse does not have to be physical either; it can take the form
of spoken words too. It is crucial that your child know the
There are certain warning signs that you as a parent can keep
an eye out for that could be signs of abuse. These include
increased sexual urges, aggression or a complete loss of
interest in sex altogether.
Your child should be able to speak to you without any fear,
and it is important that you cultivate an environment of safety
with your child.
In the end . . .
Despite your child having a neuromuscular disorder, they
are going to go through all the changes that every child
experiences in life. What matters is how you and they deal
Whether you like it or not, they are interested in sex and
are going to want to explore. You are their parent and you
can keep them well informed and forewarned so that they
develop in a healthy way without fear of judgement.
Don’t be scared to talk to your child about sex; it really isn’t
that bad, and they may even thank you for those awkward
conversations one day!
Muscular Dystrophy Canada. 2013. Let’s talk about sex:
A resource for parents. http://muscle.ca/wp-content/uploads/2012/11/SexualityParentGuide13-E.pdf
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 email@example.com.
Are care management protocols in place in South Africa for patients
with muscular dystrophies?
Care management protocols are a team-based, patient-centred approach designed to assist patients and their support systems in
managing medical conditions more effectively. No specific protocols that are nationally approved and applicable to all patients are in
place in South Africa for patients with muscular dystrophy. Importantly, the protocols for patients with muscular dystrophies in South
Africa are similar to those for patients elsewhere in the world. Thus most treating clinicians would tend to refer to international care
protocols and follow these or adapt them. Care management protocols assist patients to get comprehensive and systematic care in a
coordinated fashion. Unfortunately, the majority of patients have relatively limited access to comprehensive care and particularly
What medical professionals should I enlist for my care management if I have muscular dystrophy?
There are many different muscular dystrophies, which affect individuals of all ages and to different degrees. They may also affect other
organ systems to varying degrees. All individuals should have one health professional who is primarily responsible for their care and
who coordinates their visits and assessments with those of other health professionals. The primary carer should ensure that all their
treatments and medications are coordinated and that no medications or therapies interact adversely. The primary carer would
typically be a neurologist but could be one of many types of heath care professional. People with muscular dystrophy may also require
assessment and management by other clinicians, including cardiologists, pulmonologists, orthopaedic surgeons, gastroenterologists, general
paediatricians and general physicians.
Allied health care professionals are also extremely important in the care of individuals with muscular dystrophies as they support
diagnosis, recovery, and quality of life. These include physiotherapists, occupational therapists, biokineticists, speech therapists and
dieticians, who should all work not only to assist patients to maintain strength and mobility but also to ensure that appropriate assistance
is provided for activities of daily living.
Medical geneticists and genetic counsellors are also important as they can assist not only in directing appropriate genetic testing for a
confirmation of diagnosis but also in defining risks for other family members. Genetics professionals also assist in directing appropriate
health care and ensuring that individuals have the information required to deal with their disease. Genetic counselling is the process of
helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This
process integrates the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence, education
about inheritance, testing, management, prevention, resources, research and counselling to promote informed choices and adaptation to
the risk or condition.
Are there any supplements or vitamins that should be taken if you are diagnosed with MD?
Most muscular dystrophies are genetic conditions. Thus vitamins and supplements do not usually influence the course of the disease.
However, all individuals should have a healthy diet with adequate intake of vitamins and minerals. Some individuals with MD may have
increased energy requirements, whilst others, with limited mobility, have reduced requirements.
Sandra’s thoughts on…
By Sandra Bredell (MSW)
Inspiration in English, inspirasie in Afrikaans, ugqozi
in Zulu and iphefumlelwe in Xhosa is described as
“the process of being mentally stimulated to do or feel
something” (Vocabulary.com). “Inspire” derives from
the Latin word “inspirare”, which means “to blow into”. It
makes one think of a fire and blowing air over a flame to
make it bigger (Kaufman, 2011a).
To be inspirational means to offer some upliftment to
others so that they become more motivated to be the
best that they can be. It also refers to being an example
to others and to motivate and encourage others to grow
and reach their potential (Biography Online).
Inspiration comes in many forms. Sometimes a
movie or a book can inspire or energise you to create
something, start a new project or sport or even take a
whole new direction in your career. In everyday life a lot
of pressure is directed at measuring talent and abilities.
So often inspiration is overlooked in a culture obsessed
with success and performance. Inspiration plays an
important role in opening up new opportunities and
possibilities in changing our perspective on ordinary
experiences and our limitations (Kaufman, 2011b).
Who or what is your inspiration in life? Where and how
do you get motivated and energised to keep going?
In answering these questions, what would be
characteristics of an inspirational person? They most
likely would not be selfish, they would not act out of
pride or superiority, they would have courage to do what
is right, they would stick to their principles. Inspirational
people are usually positive and happy people with a
vision of hope (Kaufman, 2011b).
It is wonderful to have places or things that inspire
you and even to have an inspirational person or role
model, but have you given enough thought to being an
inspiration to yourself and others? It all starts with you.
The 5 Second Rule by Mel Robbins states: “If you
have an instinct to act on a goal, you must physically
move within five seconds or your brain will kill it” (Chai,
2017). So the next time you get a great idea, try to count
from 5 to 1 and act. Also try to cut down the stress and
drench yourself in motivational literature and movies.
This will remind you of your intention to create or do
something towards your goal. And finally talk to the
person that knows you best... you. This type of
conversation, however, needs to be in a positive
manner. You need to affirm and remind yourself of who
you are and what you want to achieve. Let’s get inspired
to reach our goals (Chai, 2017).
Inspire yourself and you will inspire others.
Biography Online. (No date). “Inspirational definition”.
Chai, N. (2017). “The 5 best ways to motivate yourself”.
Success, 7 September. https://www.success.com/the-
Kaufman, S.B. (2011a). “Why inspiration matters”.
Harvard Business Review, 8 November. https://hbr.
Kaufman, S.B. (2011b). “Why inspiration matters: inspiration
impacts everything”. Psychology Today, 5 October.
Vocabulary.com. (No date). “Inspire”. https://www.vocabulary.com/dictionary/inspire
Adult Support Group: 2018 Send-off
On 3 December 2018 we
celebrated the end of another
successful year of our adult
support group programme and
the International Day of People
with Disabilities. We all got into
the festive spirit and chatted the
morning away over coffee and
good food. A special thanks and
congratulations to everyone who
was involved in the programme
during 2018. We are very
privileged to be a part of your
Children’s Support Groups
It is with great excitement that we launched our school-based support group programmes for the year. We are so
happy to continue our partnership with Astra LSEN School, Eros LSEN School and Tembaletu LSEN School. Many
thanks to these partners for the opportunity and platform to run muscular dystrophy and Duchenne muscular dystrophy
support groups. Our incredible social auxiliary workers, Mariam Landers and Zukiswa Peza, have done a wonderful
job running these sessions during the first quarter of the year. We can't wait to see the wonderful things these
programmes will achieve during the rest of 2019.
Adult Support Group:
February marked the beginning of our 2019 adult
support group programme. We kicked things into gear with a
Valentine's Day social. Our members had the opportunity
to reconnect after the long festive break and to share their
thoughts and ideas for the 2019 programme. Thank you to
everyone who attended this meeting. If you couldn't make it,
don't fret! We host a meeting on the first Saturday of every
month, and you are always welcome to join us.
A day not soon forgotten . . .
It was an early morning wake-up, and while most of South Africa slept thousands of cyclists were making their
way to Riversands Commercial Park. The Muscle Riders were ready and 94.7 kilometres lay in front of them.
This day promised to be one that we would not soon forget!
Over 200 Muscle Riders approached the start line
ready for the epic ride ahead, and among them was a
young boy, Mikaeel Laher (16 years old with Duchenne
MD), who was about to take on the race in the Muscle
Riders chariot! He was not alone though – he brought
muscle with him and was to be pulled by a team of Muscle
Riders lead by Angelos Frantzeskos.
We sat with bated breath, wondering how our heroes
were doing. We need not have worried – they were
firmly in the saddle and showing everyone just what
the Muscle Riders could do. The team pushed hard and
made it across the line, and we could not be more proud
of their unbelievable effort!
Mikaeel had the following to say after the race: “I would like to thank the MDF, Angelos and team for giving me
the opportunity to ride along in the chariot. I hope that more people will support the Muscle Riders team in future
so that we can create more awareness and funds. I enjoyed every minute of it.”
Angelos Frantzeskos added: “It was exhilarating to see someone so young enjoy the ride so much, it was an
A special thank you goes out to the Glencore Cycle Team for their overwhelming support – we could not have
asked for a more inspirational and supportive team! Sannetjie Els of the Glencore team said how much the team
enjoyed cycling with the Muscle Riders and that everyone had had a terrific time cycling for those affected with
The atmosphere at the cycle challenge was something that had to be seen to be believed. The air was full of
the most amazing smells of delicious food nearby and cappuccinos that were nothing short of spectacular. The
heat was unforgiving to say the least but that did nothing to the unbreakable spirit of all those who were cycling
for people affected with muscular dystrophy.
To each and every Muscle Rider, we are truly blessed to have each one of you behind us and we cannot wait
to see what 2019 holds in store!
Tashni van Schalkwyk
Tashni was born on 18 October 2008 at Linksfield Hospital, Edenvale.
She was diagnosed with SMA at a very young age.
The brave and loving soul started her schooling career at Ithembilihle School, Primrose in 2015.
She did incredibly well at school and had a special artistic talent.
Reach For A Dream recognised her in this regard by inviting her to demonstrate her artistic
Tashni touched every person she came into contact with in a special way.
She was a very intelligent child and managed to scoop an award at her school for best chess
She was admitted to hospital on 15 January2019, where she was called to rest the following
Tashni will be sorely missed by her mother, sister, nieces, cousins, uncles, aunts, extended
family as well as the hospital and all those at her school.
It’s always too soon to say goodbye. It is with very heavy
hearts that we say goodbye to Franki Smith, who passed
away on 18 February 2019 – he was an incredible young
man. Our sincere condolences to his family. You are in
Our thoughts and prayers go out to the Talakumini family. We are deeply saddened by the loss
of Dumisani Talakumini on 28 November 2018. His kind and gentle nature and incredible artistic
talent will be deeply missed.