MDF Magazine Newsletter Issue 58 April 2019
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Autumn <strong>Issue</strong> <strong>58</strong><br />
March <strong>2019</strong><br />
R25.00 incl. VAT<br />
Introducing the<br />
parent's guide &<br />
children's book<br />
Muscular Dystrophy<br />
Awareness Day<br />
at Kabouterland!<br />
Top 10<br />
Muscular Dystrophy<br />
Articles of 2018<br />
In memory of Pieter Joubert
sully ctive<br />
j a ckSt a n e<br />
m a ib a 2go uggy<br />
Posture Support Wheelchairs<br />
24 hour Posture Management<br />
Posture Support Buggies<br />
The Sully Active Kids chair is a specially<br />
designed rugged posture support wheelchair.<br />
It is ideal for energetic and curious young<br />
children who are able to self-propel and will<br />
benefit from independent mobility to explore<br />
the world. It is suitable for ages 18 months<br />
to 5 years and can adjust to accommodate<br />
basic to intermediate postural support needs.<br />
It is designed to be highly maneuverable and<br />
yet stable, allowing users with varying levels<br />
of mobility skills to safely access more<br />
demanding terrain.<br />
The jackStander enables SAFE supported<br />
standing during activities or therapy at<br />
school and at home. Fully tilt adjustable<br />
standing allows the child to be either upright,<br />
in prone (on tummy) or supine (on back).<br />
Regular short periods of supported standing<br />
may stretch hip and lower limb muscles<br />
and reduce the onset of spinal deformity.<br />
Respiratory function, circulation, digestion<br />
and bowel/bladder functioning may also be<br />
improved.<br />
Our Madiba Buggy and madiba2Go Buggy<br />
are rugged posture support mobility devices<br />
specifically designed to provide adjustable<br />
full body support and comfort for children<br />
from 6 months old, who are unable to sit<br />
independently & require assisted propelling.<br />
The madiba2Go seating system can also<br />
be fitted onto an Active or Power base option<br />
further expanding the modes of use for full<br />
body posture support.<br />
Shonaquip is South Africa’s leading paediatric wheelchair producer and service provider. We offer a wide range of award<br />
winning, cost effective posture support devices providing mobility and support for effective 24 hour posture management.<br />
These devices are backed by sound clinical expertise enabling custom options to be created for children with postural<br />
and mobility disabilities. Please visit our website for assistance and further information.<br />
Uhambo Foundation and Shonaquip are<br />
a hybrid social enterprise working together<br />
towards an inclusive society for children<br />
with mobility and other disabilities.<br />
Robust Inclusive Impact<br />
Tel: +27 (0)21 797 8239 Email: info@shonaquip.co.za www.shonaquip.co.za
DF<br />
<strong>Magazine</strong><br />
05 <strong>MDF</strong> notice board<br />
06 National news<br />
10 MD information<br />
MD INFORMATION<br />
06 Introducing the parent's guide & children's book<br />
07 Walk the Talk <strong>2019</strong><br />
10 Myasthenia Gravis Fact Sheet<br />
14 Every year, August has a focus on Spinal Muscular<br />
Atrophy or SMA<br />
Events<br />
16 Muscle Riders Appreciation Function<br />
17 Muscular Dystrophy Awareness Day at Kabouterland!<br />
People<br />
18 Living in the Moment<br />
19 A Day in the Life of a Person with MG<br />
20 Living Independently With CMT<br />
22 Tracey – Right on target<br />
24 In memory of Pieter Joubert<br />
Regular Features<br />
33 Doctor’s corner<br />
34 Sandra’s thoughts on …<br />
Healthy Living<br />
30 Sex – A guide for Parents<br />
Research<br />
28 Top 10 Muscular Dystrophy Articles of 2018<br />
C O N T E N T S<br />
Published by:<br />
Muscular Dystrophy Foundation of SA<br />
Tel: 011 472-9703<br />
E-mail: national@mdsa.org.za<br />
Website: www.mdsa.org.za<br />
Publishing Team:<br />
Managing Editor: Gerda Brown<br />
Copy Editor: Keith Richmond<br />
Publishing Manager: Gerda Brown<br />
Design and Layout: Divan Joubert<br />
Future <strong>Issue</strong>s:<br />
August <strong>2019</strong><br />
(Deadline: 5 July <strong>2019</strong>)<br />
The Muscular Dystrophy Foundation<br />
of South Africa<br />
We are a non-profit organisation that supports<br />
people affected by muscular dystrophy and<br />
neuromuscular disorders and that endeavours to<br />
improve the quality of life of its members.
From The<br />
If you look up “transformation” in the dictionary you will find that it means a<br />
marked change in form, nature, or appearance. Transformation is something<br />
that many approach with hesitation, especially when they have been comfortable<br />
with things the way they are. However, transformation is inherently a<br />
change in the way things were, are or will be. This is often viewed as scary but,<br />
at the end of the day, we all have to transform at one point or another because<br />
time waits for no one.<br />
The Muscular Dystrophy Foundation is experiencing a transformation as we<br />
speak due to the tragic passing of the Gauteng Branch General Manager,<br />
Pieter Joubert, on 3 January <strong>2019</strong>. While this is a time to mourn for many, the<br />
Foundation is transforming and the torch is being passed to those who stand<br />
at the ready. We dedicate this issue of <strong>MDF</strong> <strong>Magazine</strong> to Pieter. “We will miss<br />
you dearly.”<br />
In this issue you can read about how cyclists raise awareness and much needed funds for the Foundation by<br />
riding in the Telkom 947 Cycle Challenge. You can find out more about the children’s book that the Foundation<br />
has launched and read inspiring stories of individuals affected by muscular dystrophy. There is also interesting<br />
news on events, MD information, research articles and our regular features.<br />
Warmest greetings and best wishes for good health and happiness in <strong>2019</strong>.<br />
Regards<br />
Gerda Brown<br />
My School Card<br />
MySchool is South Africa’s biggest community-based<br />
fundraising programme and raises over R4 million<br />
every month for schools, charities and animal welfare<br />
organisations.<br />
Every time you swipe your MySchool card at any<br />
of the partner stores they make a donation on<br />
your behalf to the beneficiary of your choice.<br />
Please ask friends and family members to sign up for<br />
a MySchool card and make the Muscular Dystrophy<br />
Foundation of South Africa your chosen beneficiary,<br />
which means the <strong>MDF</strong> would receive a percentage of<br />
the purchase value whenever the card is used.<br />
Some of the participating stores are Woolworths, Engen and Flight Centre.<br />
Sign up at www.myschool.co.za
Subscription and contributions to<br />
the magazine<br />
We publish three issues of <strong>MDF</strong> <strong>Magazine</strong><br />
a year and you can subscribe online<br />
to the magazine or by calling your nearest<br />
branch.<br />
If you have any feedback on our publications,<br />
please contact the National Office<br />
by e-mail at national@mdsa.org.za<br />
or call 011 472-9703.<br />
Get all the latest news on the fight<br />
against muscle-wasting conditions and<br />
the latest research updates. It is our editorial<br />
policy to report on developments<br />
regarding the different types of dystrophy<br />
but we do not thereby endorse any<br />
of the drugs, procedures or treatments<br />
discussed. Please consult with your own<br />
physician about any medical interventions.<br />
If you are interested in sharing your inspirational<br />
stories, please let us know<br />
and we'll be in touch to discuss this<br />
with you. The Foundation would love<br />
to hear from affected members, friends,<br />
family, doctors, researchers or anyone<br />
interested in contributing to the magazine.<br />
Articles may be edited for space<br />
and clarity.<br />
<strong>MDF</strong> SA database<br />
If you know people affected by muscular<br />
dystrophy or neuromuscular disorders<br />
who are not members, please<br />
ask them to contact us so that we can<br />
register them on our database. If we do<br />
not have your current e-mail and postal<br />
address, please contact your branch so<br />
that we can update your details on our<br />
database.<br />
How can you help?<br />
Branches are responsible for doing their<br />
own fundraising to assist members with<br />
specialised equipment. Contact your<br />
nearest branch of the Muscular Dystrophy<br />
Foundation of South Africa to find<br />
out how you can help with fundraising<br />
events for those affected with muscular<br />
dystrophy.<br />
Fundraising<br />
Crossbow Marketing Consultants (Pty)<br />
Ltd are doing invaluable work through<br />
the selling of annual forward planners.<br />
These products can be ordered from<br />
Crossbow on 021 700-6500. For enquiries<br />
contact the National Office by<br />
e-mail at national@mdsa.org.za or call<br />
011 472-9703.<br />
<strong>MDF</strong> ::<br />
<strong>MDF</strong> support information<br />
For more information about the Muscular Dystrophy Foundation, the benefits of being<br />
a member and details on how to become a member, call your nearest branch..<br />
NATIONAL OFFICE<br />
E-mail: gmnational@mdsa.org.za<br />
Website: www.mdsa.org.za<br />
Tel: 011 472-9703<br />
Address: 12 Botes Street, Florida Park,<br />
1709<br />
Banking details: Nedbank, current account<br />
no. 19<strong>58</strong>502049, branch code<br />
198765<br />
CAPE BRANCH (Western Cape,<br />
Northern Cape & part of Eastern<br />
Cape)<br />
E-mail: cape@mdsa.org.za<br />
Tel: 021 592-7306<br />
Fax: 086 535 1387<br />
Address: 3 Wiener Street, Goodwood,<br />
7460<br />
Banking details: Nedbank, current<br />
account no. 2011007631,<br />
branch code 101109<br />
GAUTENG BRANCH (Gauteng,<br />
Free State, Mpumalanga, Limpopo<br />
& North West)<br />
E-mail: gauteng@mdsa.org.za<br />
Website: www.mdfgauteng.org<br />
Website: www.muscleriders.co.za<br />
Tel: 011 472-9824<br />
Fax: 086 646 9118<br />
Address: 12 Botes Street, Florida Park,<br />
1709<br />
Banking details: Nedbank, current<br />
account no. 19<strong>58</strong>323284<br />
branch code 192841<br />
Pretoria Office<br />
E-mail: swpta@mdsa.org.za<br />
Tel: 012 323-4462<br />
Address: 8 Dr Savage Road, Prinshof,<br />
Pretoria<br />
KZN BRANCH (KZN & part of<br />
Eastern Cape)<br />
E-mail: kzn@mdsa.org.za<br />
Tel: 031 332-0211<br />
Address: Office 7, 24 Somtseu Road,<br />
Durban, 4000<br />
Banking details: Nedbank, current<br />
account no. 1069431362<br />
branch code 198765<br />
General MD Information<br />
Cape Town<br />
Lee Leith<br />
Tel: 021 794-5737<br />
E-mail: leeleith@mweb.co.za<br />
Gauteng<br />
Robert Scott<br />
Tel: 011 472-9824<br />
E-mail: mdfgauteng@mdsa.org.za<br />
Duchenne MD<br />
Cape<br />
Win van der Berg (Support Group)<br />
Tel: 021 557-1423<br />
KZN<br />
Maxine Strydom (Support Group)<br />
Tel: 031 762-1592<br />
Cell: 083 290 6695<br />
Gauteng<br />
Jan Ferreira (Support Group – Pretoria)<br />
Cell: 084 702 5290<br />
Estelle Fichardt<br />
Tel: 012 667-6806<br />
Christine Winslow<br />
Cell: 082 608 4820<br />
Charcot Marie Tooth (CMT)<br />
Hettie Woehler<br />
Cell: 079 885 2512<br />
E-mail: hettie.woehler@gmail.com<br />
Facioscapulohumeral (FSHD)<br />
Francois Honiball<br />
Tel: 012 664-3651<br />
Barry Snow<br />
Cell: 083 66 66 270<br />
E-mail: barry.snow@worleyparsons.<br />
com<br />
Friedreich Ataxia (FA)<br />
Linda Pryke<br />
Cell no: 084 405 1169<br />
Nemaline Myopathy<br />
Adri Haxton<br />
Tel: 011 802-7985<br />
Spinal Muscular Atrophy (SMA)<br />
Zeta Starograd<br />
Tel: 011 640-1531<br />
Lucie Swanepoel<br />
Tel: 017 683-0287<br />
5
National<br />
What’s new?<br />
When you first learn that your child has muscular dystrophy<br />
the news is often unexpected and devastating. You may<br />
experience a sense of powerlessness at the prospect of dealing<br />
with the diagnosis and feel stressed at facing a future filled<br />
with unknowns. As a first step, it is important to find out as<br />
much as you can about your child’s condition and its care. The<br />
more information you have, the less frightening the present<br />
and future will seem.<br />
The Muscular Dystrophy Foundation of South Africa has been<br />
fortunate enough to receive a donation to enable us to draft a<br />
parent’s manual and children’s book. These will be invaluable<br />
tools to both parents and children in their journeys with<br />
muscular dystrophy. Contact Gerda Brown at the National<br />
Office if you are interested in acquiring a copy of the manual<br />
and/or children’s book.<br />
6
MD<br />
Walk the Talk <strong>2019</strong><br />
Date: 28 July <strong>2019</strong><br />
Where: Marks Park Sports Club, Emmarentia<br />
Join the Muscular Dystrophy Foundation of South Africa at Walk the Talk <strong>2019</strong>!<br />
Help us make a difference by walking with our team to raise awareness and<br />
funds for those affected with muscular dystrophy.<br />
For more information email Gerda Brown<br />
on gmnational@mdsa.org.za.<br />
*Entries open in May <strong>2019</strong>*
MD<br />
Myasthenia<br />
Gravis Fact<br />
Sheet<br />
By the National Institute of Neurological<br />
Disorders and Stroke<br />
What is myasthenia gravis?<br />
Myasthenia gravis is a chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles, which are<br />
responsible for breathing and moving parts of the body, including the arms and legs. The name myasthenia gravis, which is<br />
Latin and Greek in origin, means "grave, or serious, muscle weakness."<br />
The hallmark of myasthenia gravis is muscle weakness that worsens after periods of activity and improves after periods of<br />
rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing<br />
are often (but not always) involved in the disorder. The muscles that control breathing and neck and limb movements may<br />
also be affected.<br />
There is no known cure but with current therapies most cases of myasthenia gravis are not as "grave" as the name implies.<br />
Available treatments can control symptoms and often allow people to have a relatively high quality of life. Most individuals<br />
with the condition have a normal life expectancy.<br />
What causes myasthenia gravis?<br />
Myasthenia gravis is caused by an error in the transmission of nerve impulses to muscles. It occurs when normal<br />
communication between the nerve and muscle is interrupted at the neuromuscular junction—the place where nerve cells<br />
connect with the muscles they control.<br />
Neurotransmitters are chemicals that neurons, or brain cells, use to communicate information. Normally when electrical<br />
signals or impulses travel down a motor nerve, the nerve endings release a neurotransmitter called acetylcholine.<br />
Acetylcholine travels from the nerve ending and binds to acetylcholine receptors on the muscle. The binding of acetylcholine<br />
to its receptor activates the muscle and causes a muscle contraction.<br />
In myasthenia gravis, antibodies (immune proteins) block, alter, or destroy the receptors for acetylcholine at the<br />
neuromuscular junction, which prevents the muscle from contracting. In most individuals with myasthenia gravis, this<br />
8
is caused by antibodies to the acetylcholine receptor itself. However, antibodies to other proteins, such as MuSK<br />
(Muscle-Specific Kinase) protein, can also lead to impaired transmission at the neuromuscular junction.<br />
These antibodies are produced by the body's own immune system. Myasthenia gravis is an autoimmune disease because the<br />
immune system—which normally protects the body from foreign organisms—mistakenly attacks itself.<br />
The thymus is a gland that controls immune function and may be associated with myasthenia gravis. Located in the chest<br />
behind the breast bone, the gland is largest in children. It grows gradually until puberty, and then gets smaller and is replaced<br />
by fat. Throughout childhood, the thymus plays an important role in the development of the immune system because it is<br />
responsible for producing T-lymphocytes or T cells, a specific type of white blood cell that protects the body from viruses and<br />
infections.<br />
In many adults with myasthenia gravis, the thymus gland remains large. People with the disease typically have clusters of<br />
immune cells in their thymus gland similar to lymphoid hyperplasia—a condition that usually only happens in the spleen and<br />
lymph nodes during an active immune response. Some individuals with myasthenia gravis develop thymomas (tumors of the<br />
thymus gland). Thymomas are most often harmless, but they can become cancerous.<br />
The thymus gland plays a role in myasthenia gravis, but its function is not fully understood. Scientists believe that the<br />
thymus gland may give incorrect instructions to developing immune cells, ultimately causing the immune system to attack<br />
its own cells and tissues and produce acetylcholine receptor antibodies—setting the stage for the attack on neuromuscular<br />
transmission.<br />
What are the symptoms of myasthenia gravis?<br />
MD<br />
Although myasthenia gravis may affect any skeletal muscle, muscles that control eye and eyelid movement, facial<br />
expression, and swallowing are most frequently affected. The onset of the disorder may be sudden and symptoms often are not<br />
immediately recognized as myasthenia gravis.<br />
In most cases, the first noticeable symptom is weakness of the eye muscles. In others, difficulty swallowing and slurred<br />
speech may be the first signs. The degree of muscle weakness involved in myasthenia gravis varies greatly among<br />
individuals, ranging from a localized form limited to eye muscles (ocular myasthenia), to a severe or generalized form in<br />
which many muscles—sometimes including those that control breathing—are affected.<br />
9
MD<br />
Symptoms may include:<br />
• drooping of one or both eyelids (ptosis)<br />
• blurred or double vision (diplopia) due to weakness of the muscles that control eye movements<br />
• a change in facial expression<br />
• difficulty swallowing<br />
• shortness of breath<br />
• impaired speech (dysarthria)<br />
• weakness in the arms, hands, fingers, legs, and neck.<br />
Who gets myasthenia gravis?<br />
Myasthenia gravis affects both men and women and occurs across all racial and ethnic groups. It most commonly impacts<br />
young adult women (under 40) and older men (over 60), but it can occur at any age, including childhood. Myasthenia gravis<br />
is not inherited nor is it contagious. Occasionally, the disease may occur in more than one member of the same family.<br />
Although myasthenia gravis is rarely seen in infants, the fetus may acquire antibodies from a mother affected with<br />
myasthenia gravis—a condition called neonatal myasthenia. Generally, neonatal myasthenia gravis is temporary and the child's<br />
symptoms usually disappear within two to three months after birth. Rarely, children of a healthy mother may develop congenital<br />
myasthenia. This is not an autoimmune disorder (it is caused by defective genes that produce abnormal proteins in the<br />
neuromuscular junction) and can cause similar symptoms to myasthenia gravis.<br />
How is myasthenia gravis diagnosed?<br />
A doctor may perform or order several tests to confirm the diagnosis, including:<br />
• A physical and neurological examination. A physician will first review an individual’s medical history and conduct a<br />
physical examination. In a neurological examination, the physician will check muscle strength and tone, coordination, sense<br />
of touch, and look for impairment of eye movements.<br />
• An edrophonium test. This test uses injections of edrophonium chloride to briefly relieve weakness in people with<br />
myasthenia gravis. The drug blocks the breakdown of acetylcholine and temporarily increases the levels of acetylcholine at<br />
the neuromuscular junction. It is usually used to test ocular muscle weakness.<br />
• A blood test. Most individuals with myasthenia gravis have abnormally elevated levels of acetylcholine receptor antibodies.<br />
A second antibody—called the anti-MuSK antibody—has been found in about half of individuals with myasthenia gravis<br />
who do not have acetylcholine receptor antibodies. A blood test can also detect this antibody. However, in some individuals<br />
with myasthenia gravis, neither of these antibodies is present. These individuals are said to have seronegative (negative<br />
antibody) myasthenia.<br />
• Electrodiagnostics. Diagnostic tests include repetitive nerve stimulation, which repeatedly stimulates a person’s nerves<br />
with small pulses of electricity to tire specific muscles. Muscle fibers in myasthenia gravis, as well as other neuromuscular<br />
disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals. Single<br />
fiber electromyography (EMG), considered the most sensitive test for myasthenia gravis, detects impaired nerve-to-muscle<br />
transmission. EMG can be very helpful in diagnosing mild cases of myasthenia gravis when other tests fail to demonstrate<br />
abnormalities.<br />
• Diagnostic imaging. Diagnostic imaging of the chest using computed tomography (CT) or magnetic resonance imaging<br />
(MRI) may identify the presence of a thymoma.<br />
• Pulmonary function testing. Measuring breathing strength can help predict if respiration may fail and lead to a myasthenic<br />
crisis.<br />
Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or<br />
delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is<br />
restricted to only a few muscles.<br />
What is a myasthenic crisis?<br />
A myasthenic crisis is a medical emergency that occurs when the muscles that control breathing weaken to the point where<br />
individuals require a ventilator to help them breathe.<br />
Approximately 15 to 20 percent of people with myasthenia gravis experience at least one myasthenic crisis. This condition<br />
usually requires immediate medical attention and may be triggered by infection, stress, surgery, or an adverse reaction to<br />
medication. However, up to one-half of people may have no obvious cause for their myasthenic crisis. Certain medications<br />
10
MD<br />
have been shown to cause myasthenia gravis. However, sometimes these medications may still be used if it is more important<br />
to treat an underlying condition.<br />
How is myasthenia gravis treated?<br />
Today, myasthenia gravis can generally be controlled. There are several therapies available to help reduce and improve muscle<br />
weakness.<br />
• Thymectomy. This operation to remove the thymus gland (which often is abnormal in individuals with myasthenia gravis)<br />
can reduce symptoms and may cure some people, possibly by rebalancing the immune system. A recent NINDS-funded<br />
study found that thymectomy is beneficial both for people with thymoma and those with no evidence of the tumors. The<br />
clinical trial followed 126 people with myasthenia gravis and no visible thymoma and found that the surgery reduced muscle<br />
weakness and the need for immunosuppressive drugs.<br />
• Anticholinesterase medications. Medications to treat the disorder include anticholinesterase agents such as mestinon or<br />
pyridostigmine, which slow the breakdown of acetylcholine at the neuromuscular junction and thereby improve<br />
neuromuscular transmission and increase muscle strength.<br />
• Immunosuppressive drugs. These drugs improve muscle strength by suppressing the production of abnormal antibodies.<br />
They include prednisone, azathioprine, mycophenolate mofetil, tacrolimus, and rituximab. The drugs can cause significant<br />
side effects and must be carefully monitored by a physician.<br />
• Plasmapheresis and intravenous immunoglobulin. These therapies may be options in severe cases of myasthenia gravis.<br />
Individuals can have antibodies in their plasma (a liquid component in blood) that attack the neuromuscular junction. These<br />
treatments remove the destructive antibodies, although their effectiveness usually only lasts for a few weeks to months.<br />
o Plasmapheresis is a procedure using a machine to remove harmful antibodies in plasma and replace them with good<br />
plasma or a plasma substitute.<br />
o Intravenous immunoglobulin is a highly concentrated injection of antibodies pooled from many healthy donors that<br />
temporarily changes the way the immune system operates. It works by binding to the antibodies that cause myasthenia<br />
gravis and removing them from circulation.<br />
What is the prognosis?<br />
With treatment, most individuals with myasthenia can significantly improve their muscle weakness and lead normal or nearly<br />
normal lives. Sometimes the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate<br />
emergency medical care.<br />
Some cases of myasthenia gravis may go into remission—either temporarily or permanently—and muscle weakness may<br />
disappear completely so that medications can be discontinued. Stable, long-lasting complete remissions are the goal of<br />
thymectomy and may occur in about 50 percent of individuals who undergo this procedure.<br />
What research is being done?<br />
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about<br />
the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a<br />
component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world.<br />
Although there is no cure for myasthenia gravis, management of the disorder has improved over the past 30 years. There is a<br />
greater understanding about the structure and function of the neuromuscular junction, the fundamental aspects of the thymus<br />
gland and of autoimmunity, and the disorder itself. Technological advances have led to more timely and accurate diagnosis<br />
of myasthenia gravis and new and enhanced therapies have improved treatment options. Researchers are working to develop<br />
better medications, identify new ways to diagnose and treat individuals, and improve treatment options.<br />
Medication<br />
Some people with myasthenia gravis do not respond favorably to available treatment options, which usually include long-term<br />
suppression of the immune system. New drugs are being tested, either alone or in combination with existing drug therapies,<br />
to see if they are effective in treating the disease.<br />
Studies are investigating the use of therapy targeting the B cells that make antibodies (rituximab) or the process by which<br />
acetylcholine antibodies injure the neuromuscular junction (eculizumab). The drugs have shown promise in initial clinical<br />
trials.<br />
11
MD<br />
Diagnostics and biomarkers<br />
In addition to developing new medications, researchers are trying to find better ways to diagnose and treat this disorder. For<br />
example, NINDS-funded researchers are exploring the assembly and function of connections between nerves and muscle<br />
fibers to understand the fundamental processes in neuromuscular development. This research could reveal new therapies for<br />
neuromuscular diseases like myasthenia gravis.<br />
Researchers are also exploring better ways to treat myasthenia gravis by developing new tools to diagnose people with<br />
undetectable antibodies and identify potential biomarkers (signs that can help diagnose or measure the progression of a<br />
disease) to predict an individual’s response to immunosuppressive drugs.<br />
New treatment options<br />
Findings from a recent NINDS-supported study yielded conclusive evidence about the benefits of surgery for individuals<br />
without thymoma, a subject that had been debated for decades. Researchers hope that this trial will become a model for<br />
rigorously testing other treatment options, and that other studies will continue to examine different therapies to see if they are<br />
superior to standard care options.<br />
Article online at: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-<br />
Sheet#1<br />
Your support means hope<br />
The Muscular Dystrophy Foundation of South Africa is a<br />
registered non-profit organisation which supports people<br />
affected by muscular dystrophy and neuro-muscular<br />
disorders. We assist affected persons and their families by<br />
providing access to international information, workshops,<br />
support groups, access to genetic counselling, referrals to<br />
health facilities and providing assistive devices.<br />
The term muscular dystrophy (MD) describes a disorder<br />
that affects the muscles, resulting in progressive wasting and<br />
weakness of the muscle. Symptoms may appear at birth, in<br />
early childhood, or later in life. Individuals of either sex, all<br />
ages and ethnic backgrounds can be affected by MD.<br />
Contact us for further information:<br />
12<br />
NATIONAL OFFICE<br />
Tel: 011 472-9703<br />
E-mail: national@mdsa.org.za<br />
Website: www.mdsa.org.za<br />
GAUTENG BRANCH<br />
(Gauteng, Free State, Mpumalanga, Limpopo & North West)<br />
Tel: 011 472-9824
S wedocare<br />
medical care products
MD<br />
Every year, August has a focus on Spinal<br />
Muscular Atrophy or SMA<br />
By Independent Living<br />
Here is a quick overview of key information about the<br />
condition.<br />
What is Spinal Muscular Atrophy?<br />
There are actually four different types of SMA, which vary<br />
quite considerably.<br />
In all cases, though, the condition is genetically inherited,<br />
and causes progressive loss of movement and increasing<br />
weakness, as a result of muscle wasting.<br />
The condition can affect the ability to walk, as well as<br />
movement of the arm and hand, head and neck, breathing<br />
and swallowing.<br />
A fault in the gene called Survival Motor Neuron 1 (SMN1)<br />
causes spinal muscular atrophy. This gene carries the<br />
information that is required for producing a protein called<br />
Survival Motor Neuron (SMN) protein. Without this<br />
protein, the nerve cells that help to control the muscles for<br />
moving and breathing become damaged.<br />
How do you get SMA?<br />
You need to have a faulty SMN1 gene from both parents in<br />
order to have spinal muscular atrophy, as it is a recessive<br />
condition.<br />
About one in 50 people carries the faulty gene – around 1<br />
million to 1.5 million people in Britain.<br />
Children born to two SMA carriers have a one in four<br />
chance of developing the condition, and a one in two chance<br />
of being a carrier themselves.<br />
The four main types of SMA<br />
Spinal muscular atrophy Type 1 is the most severe, and<br />
symptoms appear very early in life. Children with this type<br />
of SMA are not able to sit unaided and, without intervention,<br />
rarely survive their second birthday.<br />
SMA Type 2 starts to manifest itself in the first year or so.<br />
It is a condition that causes serious physical disability, and<br />
children with that cannot stand without help.<br />
Improvements in understanding and care have led to a<br />
situation where most people with SMA type 2 can expect<br />
to have a productive and fulfilling life, even though the<br />
condition may shorten life expectancy.<br />
SMA Type 3 starts to show symptoms in early childhood,<br />
and is less disabling than spinal muscular atrophy types 1<br />
and 2. Children diagnosed with this type of SMA find their<br />
ability to walk decreasing with time, but they have normal<br />
life expectancy.<br />
SMA Type 4 develops in adulthood, and it is not<br />
life-threatening.<br />
How many people are affected by SMA?<br />
This is a rare condition. Worldwide, it affects one in every<br />
6,000 – 10,000 babies.<br />
Treatment of SMA<br />
There isn’t a cure, yet, though a great deal of research is<br />
going on. Meanwhile, the options available which aim to<br />
manage symptoms, reduce complications and maintain<br />
quality-of-life have been compiled into internationally<br />
agreed Standards of Care for SMA.<br />
In the UK particularly, extensive research into the<br />
genetics of SMA has led to some breakthroughs in<br />
developing treatments for the genetic fault that limits the<br />
production of SMN protein.<br />
Nusinersen, tradename Spinraza<br />
Nusinersen is a new potential treatment for SMA, which<br />
targets the SMN2 gene to produce more SMN protein. It<br />
was developed by pharmaceutical companies Ionis and<br />
Biogen, and there have been clinical trials with children<br />
affected by SMA Types 1, 2 and 3.<br />
Following these trials, earlier this summer the European<br />
Commission approved nusinersen as a treatment for SMA<br />
Types 1, 2, 3 and 4.<br />
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MD<br />
In the UK, this treatment can only be accessed through the<br />
so-called Expanded Access Programme (EAP). It is only<br />
available to children with SMA Type 1.<br />
Whether there is wider availability in the future depends on<br />
NICE (National Institute for Health and Care Excellence),<br />
the Scottish Medicines Consortium, and other devolved<br />
health authorities approving it for NHS funding.<br />
Article online at: https://www.independentliving.co.uk/advice/sma-awareness-month/<br />
15
Events<br />
Muscle Riders Appreciation Function<br />
The annual Appreciation Function for the Muscle Riders<br />
was held at Crawford College Lonehill on 17 November<br />
2018. Muscle Riders gathered to collect their goody bags,<br />
cycle jerseys and the all-important race packs.<br />
Our little heroes who took part in the Kiddies Ride<br />
in 2018 were also there to receive their Muscle<br />
Riders teddy bears and certificates!<br />
The day was very well attended and everyone enjoyed the<br />
atmosphere. We would like to thank all those in attendance<br />
and to everyone who contributed towards making the day<br />
a huge success!<br />
16
Events<br />
Muscular Dystrophy Awareness<br />
Day at Kabouterland!<br />
By Veronica Van Staden<br />
Tiaan van Staden is a young boy affected by Duchenne Muscular Dystrophy.<br />
On Rear Diseases day, the 28th of February <strong>2019</strong>, Tiaan’s sister, Mia, created awareness about Muscular<br />
Dystrophy at her School Kabouterland which is situated in Middelburg, Mpumalanga.<br />
The Headmaster of Kabouterland, Mrs Sanet Van Rensburg, said that "They are privileged to help in any<br />
way and are holding the families affected with this disease in their prayers”.<br />
The Van Staden family wishes to thank each and every person who creates awareness about Muscular<br />
Dystrophy and Rare Disease Day each year! A special thank you to Mia’s teacher, Mrs Ilze Smit, for her<br />
kind heart and the beautiful photos. Your love and support means the world to the parents of each child<br />
effected.<br />
17
People<br />
Making the most of life for us is turning out not to be<br />
trips to Disneyland or rides in chinook helicopters<br />
but enabling Tom to walk his dog, still visit the<br />
allotment with his grandad, go fishing with his dad<br />
and play outside with his sister. The simple things.<br />
Living in the moment takes on a different resonance<br />
when your child has a progressive, life-limiting<br />
condition. We know we should make the most<br />
of each day, stop and smell the roses with our<br />
children, as Duchenne forces them to slow, and live<br />
a life full of love and laughter. But in reality, this is<br />
just the time that life gets harder, when housing<br />
adaptations, care plans, hospital appointments,<br />
drug trials (if we are lucky) and increasingly<br />
divergent needs of siblings overwhelm us and<br />
threaten to obliterate our patience.<br />
Over the past year Duchenne has wreaked its<br />
damage and our son Tom has lost a lot of function.<br />
We have tried hard to find ways to keep Tom happy,<br />
socially included and resilient and wanted to share<br />
what has helped us.<br />
Living<br />
in the Moment<br />
The dog! After a disastrous start with an<br />
assistance dog from a charity that had to be returned,<br />
we bought Lily the Labrador when she was 6 months<br />
old and found an amazing dog trainer who agreed<br />
to train her specifically to meet Tom’s current and<br />
future needs. Unprompted, Tom’s Cub pack kindly<br />
raised money to help fund this training. The past 8<br />
months have been extremely challenging as Lily has<br />
knocked my daughter Amy over and broken her foot,<br />
chewed shoes, clothes and carpets, chased horses,<br />
jumped our fence and devoured the whole contents<br />
of a strangers barbecue! But during training she is<br />
faultless and the happiness and purpose she has<br />
brought to Tom’s life has been remarkable. The<br />
arrival of the manual wheelchair has been eased by<br />
training Lily to walk alongside it without biting the<br />
wheels, stiff legs at night have been soothed by the<br />
warmth of Lily’s body as she sleeps next to Tom,<br />
and feeding and grooming her have given Tom<br />
responsibility. In time Lily will accompany Tom into<br />
school, shops and hospital as his assistance dog<br />
and remain steadfastly by his side.<br />
The hospice. The first time I visited our local<br />
children’s hospice last year, the tears streamed<br />
and did not stop, but I have come to learn that<br />
hospices offer a variety of support services that can<br />
really help all family members. We now go as a<br />
family to use the hydropool and also access community<br />
respite which means that once a month a<br />
wonderful, fun person comes to our house to play<br />
with Tom and Amy or take them out on a trip.<br />
Listening to our needs, the hospice has also set up<br />
a support group for 4 Duchenne boys of a similar<br />
age to go and play and talk together under the<br />
supervision of a counsellor qualified in play<br />
therapy.<br />
The off-road wheelchair. Watching Tom lose function and<br />
struggle has for me at times been unbearable. The moment I realised<br />
he could no longer easily access a beach, fishing lake, woodland<br />
and our road, I knew we had to act. Turned down by most of the<br />
wheelchair charities for an off-road model, we set up a Go Fund<br />
Me page and after clothes sales, a ball and hugely generous<br />
donations by friends, family and strangers alike, we bought Tom his<br />
mean, cool, orange terrain hopper. Making the most of life for us is<br />
turning out not to be trips to Disneyland or rides in chinook<br />
helicopters (although this is scheduled for the summer thanks to<br />
the Make a Wish Foundation) but enabling Tom to walk his dog, still<br />
visit the allotment with his grandad, go fishing with his dad and play<br />
outside with his sister. The simple things.<br />
18<br />
This entry was posted by Duchenne UK .<br />
Website: https://www.duchenneuk.org/living-in-the-moment
A Day in the Life<br />
of a Person with MG<br />
People<br />
BY RETHA DE WET<br />
What is the first thing you do when you<br />
wake up?<br />
You might have answered, “I take a shower” or “I<br />
drink coffee.” However, the first thing everyone<br />
does when waking up is to open the eyes. It is a<br />
movement so simple that most of us take it for granted<br />
— until the ability to do so has been compromised.<br />
For someone living with myasthenia gravis, even<br />
opening our eyes prior to taking the right medicine is<br />
a massive struggle. Sometimes, even when we can<br />
open our eyes, we have double or blurry vision. This<br />
is because MG causes muscle weakness, which<br />
includes the muscles in our eyes. Being unable to see<br />
clearly, despite our best efforts to squint or move<br />
closer to a specific object, can be demotivating at<br />
times.<br />
As I have said in a previous column, MG<br />
teaches us patience. With rest, our symptoms<br />
can improve (although improvement does not<br />
necessarily mean they disappear.) Luckily, I have<br />
found other remedies. Applying ice packs to my<br />
eyes or wearing an eye patch (if only one eye is<br />
affected) may help.<br />
The next part of the day is getting out of bed.<br />
This also is difficult for someone living with MG,<br />
as we might suffer from generalized weakness<br />
as well. This means that all the muscles we can<br />
willingly control may be affected. This includes<br />
arms, legs, the neck, and others. Having weak<br />
arms and a weak core makes getting up from a<br />
lying position much more difficult. Think about how<br />
a healthy person would move if they had weights<br />
attached to their limbs; it would be slow and<br />
laborious. That is what moving with MG feels like.<br />
Eventually, we have to eat. This activity may also be<br />
influenced by MG. As I take my first bite, my arms<br />
feel heavy while I lift the spoon, and my lips struggle<br />
to stay closed. Sometimes this causes food to spill<br />
from my mouth or my spoon. Eventually, I try to chew,<br />
but with every bite, I feel my cheeks and tongue<br />
becoming more tired. This sometimes leads to<br />
choking and violent coughing, which are both<br />
exhausting.<br />
As I swallow, I may experience food getting<br />
stuck in my throat because my muscles are<br />
too weak to force it down. I have found that<br />
adjusting my diet helps most with these<br />
symptoms. I try to avoid hard-to-chew foods like<br />
beef jerky and excessive helpings of cooked meat.<br />
I have swapped my porridge in the morning with<br />
yogurt, and I try to eat only after I have taken my<br />
first Mestinon (pyridostigmine) tablet for the day.<br />
Then, I have to walk down the stairs from my<br />
apartment to my car. The figurative weights on my<br />
legs seem to get heavier with each step, and by the<br />
time I reach the bottom I am gasping for air. This is<br />
because the diaphragm, the muscle that helps to<br />
exhale, is also affected by MG. Not only is seeing,<br />
moving, and eating difficult, but breathing is, too!<br />
This is the reality of living with MG. Activities we are<br />
required to do daily become strenuous tasks that can<br />
leave us exhausted before the day has even started.<br />
Luckily, MG does not affect the functioning of<br />
our brains. We are always in control of how we<br />
choose to respond to these symptoms. That<br />
does not mean that there aren’t days when we<br />
are overwhelmed by all these symptoms. It simply<br />
means that we can control our thoughts. How<br />
our friends and family react to our symptoms<br />
also can affect how we perceive them. Support is<br />
a pivotal part of managing any chronic illness.<br />
Never forget that life is beautiful. Always keep fighting.<br />
This entry was posted on 11 January <strong>2019</strong> by Retha<br />
De Wet in A Good Life with Bad Muscles - A column<br />
by Retha De Wet.<br />
Website:<br />
https://myastheniagravisnews.<br />
com/<strong>2019</strong>/01/11/day-life-person-mg-muscle-weakness-walking-eating-fatigue/<br />
19
People<br />
Living Independently With CMT Requires Creative<br />
Thinking — and a Few Handy Gadgets<br />
At 22, when I graduated from college, I, like so many<br />
of my fellow millennials, moved back home. I spent<br />
two transitional years in the room where I’d grown<br />
up, unicorn wallpaper still casting magic above the<br />
bed, and then, one weekend, I packed my clothes and<br />
moved out.<br />
I’d lived alone in my college town, but my first<br />
apartment in Omaha, my hometown, was the first<br />
apartment for which I bought new furniture (a loveseat<br />
and a bed — the books and the stereo got plunked on<br />
the floor). My boss at the time gave me a round wood<br />
table and chairs and a mid-century modern armchair<br />
I put in my ramshackle bedroom. The closet was a<br />
mess of saddle shoes and skirts and handbags, I<br />
survived on cereal and Diet Coke, and I was doing the<br />
thing, finally, without a safety net.<br />
I’ve lived in six apartments in Omaha now — three<br />
on my own, the fourth with a boyfriend, and two more<br />
on my own after him. The most recent became home<br />
just this July, and it’s my favorite of them all — high<br />
ceilings, a sunny balcony, a westward view of<br />
Nebraska’s nightly showstopper sunsets. The<br />
furniture matches. Things live properly on bookcases<br />
and shelves. There’s art made by my friends on the<br />
walls of every room.<br />
BY LINDSEY BAKER<br />
In my dozen years of living independently, I’ve learned<br />
how to keep things tidy (a minimalist approach goes<br />
far). I’ve learned how to cook. I can host a nice<br />
little party. I learned, after a doubtful beginning,<br />
domesticity. I’ve also become less able to manage it.<br />
In the reverse universe that is living with a<br />
neuromuscular disease, as my skill set grew, my<br />
ability shrank. I can make a fantastic vegetarian,<br />
gluten-free shepherd’s pie — just not on my own.<br />
Three sets of sheets is indeed the exact right<br />
number to have for each bed in the house — but I<br />
can’t smooth them out, or even fold them, anymore,<br />
neatly for the drawer.<br />
This year, 17 years after my Charcot-Marie-Tooth<br />
disease (CMT) diagnosis, I use a walker full-time,<br />
meaning I don’t cheat anymore hugging the wall from<br />
the bedroom to the bathroom — I use the walker<br />
now. My new apartment is bigger, but that means it<br />
has fewer easy handholds and supports. Space has<br />
forced me to lean, finally, on all of my support.<br />
I have an assistant who comes weekly to help with<br />
chores and errands, but most of the time, I’m by<br />
myself, working at my desk, cooking in the kitchen,<br />
reading on the balcony.<br />
I can do things. I can do the thing — independent<br />
living — but it’s taken some creative thinking. The first<br />
time I saw my new apartment, I knew I couldn’t live<br />
in it without finding a solution for the shower. It’s a<br />
standing design, but an internal built-in bench doesn’t<br />
come close enough to the shower’s edge for me to<br />
use it as an entry and exit point. Because foot drop<br />
prevents me from stepping over the low ledge at the<br />
shower’s base, I need a seat on which to pivot in and<br />
out.<br />
20
People<br />
so I’ve started putting a trivet on my walker’s seat to<br />
make the transfer from stovetop to elsewhere. Years<br />
ago, my mom gave me a long wooden kitchen ruler<br />
with a hook at one end designed to pull out a hot<br />
oven rack; that hook has come in handy pulling down<br />
rolls of paper towels from cabinets or chasing bits<br />
of dried pasta that roll into corners. And utilizing a<br />
tip from my grandmother, who lives with advanced<br />
arthritis, tongs can pick up bits and bobs off the floor,<br />
too — and, when they’re soft and silicone-tipped, can<br />
gently retrieve an egg from a carton.<br />
I automate as much as I can — electric can and wine<br />
openers and stand-mixers are crucial. I have a<br />
multi-piece chopper/food processor/blender that<br />
works with a simple motor that fits on top and has just<br />
one big power button to press. Lights and the stereo<br />
are connected to an Amazon Echo that lets me settle<br />
in, shoes off, without having to get up for much.<br />
In this, I got lucky. My dad is a retired architect. He<br />
called a contractor friend, sent a few photos of my<br />
shower and a few sketched thoughts along, and<br />
together we designed a custom-made shower bench<br />
of sturdy, water-resistant materials that safely solved<br />
the problem of egress. I also looped in my apartment<br />
building’s head of maintenance, Rex, to add a<br />
grab bar that was thinner than standard bars — my<br />
hand contractures don’t allow for a wide grip. Patient<br />
and even more creative than I when it came down to<br />
what Menard’s was stocking, Rex delivered a slim<br />
industrial bar that is, I gotta say, the coolest assistive<br />
bar in the Middle West.<br />
Reach and grip have become tricky business in other<br />
rooms. My kitchen is just a little too wide to turn in<br />
when one’s got bad balance and a hot pan in hand,<br />
It’s true that I don’t, anymore, make elaborate<br />
dinners. My parties now are all of the cocktail-andsnacks<br />
variety. I vacuum from a chair, and not often.<br />
I ask for a lot more help. I’m a little embarrassed to<br />
admit the thing about the tongs.<br />
But what I’m saying is, I’m here. I’m figuring out how<br />
to be here. There aren’t solutions for every problem,<br />
but there is that.<br />
There are ways, if you’re open to them, to be just<br />
you, at home, and pretty comfortable at that.<br />
Article posted online by the Muscular Dystrophy<br />
Association, 20 September 2018, at: https://<br />
strongly.mda.org/living-independently-cmt-requirescreative-thinking-handy-gadgets/<br />
21
People<br />
Tracey<br />
Right on<br />
target<br />
Shooting highlights:<br />
Tracey has achieved an extraordinary level of<br />
success in her chosen sport, 10 metre air rifle target<br />
shooting. In 2014, she talked to us about how the<br />
sport helps her to travel around Australia and meet<br />
different people and helps others to see past her<br />
disability.<br />
Winning a bronze medal in my first interstate<br />
competition in Sydney last year competing against<br />
Olympic champions; Becoming Queensland State<br />
Champion in late 2013 and achieving 3 personal<br />
bests and 2 bronze medals at the International<br />
Grand Prix Sydney in February this year. I also love<br />
it when strangers approach you at the airport to ask<br />
about your medals (which I always wear home…if<br />
you’ve got them, why not show them to the world)<br />
and ask if they can have a photo with you to show<br />
their family. Now I would have to say that’s pretty<br />
cool!<br />
How did you first get involved in shooting?<br />
I have always had a secret love for guns, big ones or<br />
small, anything with fire power. I had only ever shot<br />
one rifle in my life before this and loved it. So when<br />
Muscular Dystrophy Queensland sent me a notice<br />
for a “come and try” weekend at Belmont Shooting<br />
Range last year I accepted with much excitement<br />
and anticipation. I had set my mind on shooting<br />
pistols however when I got to try one I found it<br />
way too heavy for me. I was devastated because<br />
I so badly wanted to shoot. The assistant Olympic<br />
Coach was there on the day and asked me if I would<br />
like to try shooting a rifle. I was given a stand to rest<br />
the rifle on and fired off half a dozen shots. To my<br />
amazement my grouping (shooters talk) was very<br />
good, enough to impress the Olympic Coach. He<br />
asked me if I would be interested in coming back<br />
and getting involved in shooting as a competitive<br />
sport and well the rest is history. I haven’t stopped<br />
since that day and I love it so much.<br />
22
People<br />
Why do you love shooting?<br />
Whether it’s for fun or in competitions, club shoots<br />
or interstate this is the best thing I have ever done. I<br />
thought my calling was in drag racing (another story<br />
in another life) now I would have to say shooting is<br />
my calling, fancy finding this out so late in life – not<br />
that I’m old! I just mean with my inability to do things<br />
as well anymore, I find shooting and I’m rather good<br />
at it. Not to mention I LOVE IT. Shooting has opened<br />
a door for me to enjoy myself with people that have<br />
a love for the same thing as me. Other people see<br />
me as just another person and not the disabled<br />
person in a chair. I find shooting a way to de-stress<br />
and even though competitions are stressful, when I<br />
shoot I’m in my own little world and I find it relaxing<br />
and yet very exciting at the same time. I can’t wait<br />
to get to training every week and wish I could do it<br />
full-time.<br />
uniform expenses. There are other grants out there<br />
and I’m always on the look out for them. At the<br />
beginning of the year I sat down and worked out<br />
my schedule and estimated costs then I went<br />
looking for grants etc. and put together a budget for<br />
the year. It’s always good to be prepared.<br />
Article posted online by Muscular Dystrophy<br />
Queensland, at: http://mdqld.org.au/neuromuscular-condition/stories-shared/tracey-right-on-target/<br />
Observations and obstacles:<br />
Since getting the chance to travel around<br />
Australia, something I haven’t done much of in my<br />
life, I have found flying really easy. The airlines are<br />
very good when it comes to people like us (special),<br />
you just have to ask and so far I haven’t had a<br />
problem. Now, finding accommodation, well that’s<br />
not so easy. When you’re looking for a room always<br />
call and ask for photos – especially of the bathroom<br />
because some places haven’t got a clue.<br />
You’re probably wondering how I manage funding<br />
my travel on a pension. I am always looking for<br />
grants to help in any way. Last year I received a<br />
grant for my shooting jacket from Sporting Dreams<br />
Foundation. I am also a member of the Sporting<br />
Wheelies Association who help with travel and<br />
The WCCS UJ Chapter held their<br />
annual golf day at the Benoni<br />
Country Club on 13 March <strong>2019</strong>.<br />
A portion of the proceeds will be<br />
donated to <strong>MDF</strong> Gauteng. We wish<br />
to thank all those in attendance for<br />
their amazing support!
People<br />
Pieter Joubert was the long-time General Manager<br />
of the Gauteng Branch of the Muscular Dystrophy<br />
Foundation of South Africa (<strong>MDF</strong>). Pieter himself<br />
was affected by facioscapulohumeral muscular<br />
dystrophy (FSHD).<br />
As a result of this, Pieter had been in a wheelchair<br />
for more than a decade; however, this did not stop<br />
him from dedicating a large portion of his remarkable<br />
life to the <strong>MDF</strong> and the service of its members<br />
for more than 20 years.<br />
Pieter experienced an unfortunate health setback<br />
during the week of 12 November 2018 and was admitted<br />
to the Life Flora Clinic ICU. After a long fight<br />
he unfortunately passed away on 3 January <strong>2019</strong>.<br />
Pieter’s history with the foundation stretches as far<br />
back as 1995 when the <strong>MDF</strong> consisted only of a<br />
national office to represent the entire country. He<br />
was consistently involved with the <strong>MDF</strong> over the<br />
years, playing a pivotal role in establishing the<br />
Gauteng office as well as serving on its committee.<br />
<strong>MDF</strong> Gauteng Branch took the bold move to create<br />
a position for a General Manager, a position Pieter<br />
filled with pride and tremendous success. He became<br />
very well known amongst the members of the<br />
<strong>MDF</strong>, not just in Gauteng but across the country.<br />
In 2008, <strong>MDF</strong> Gauteng was well established and<br />
under Pieter’s leadership started implementing a<br />
In memory<br />
of<br />
Pieter Joubert<br />
strategic growth strategy to expand the services<br />
of the branch. They took the bold move to submit<br />
a business plan and motivations to the National<br />
Lotteries Board (Lotto) for funding to buy a<br />
property. Lotto did not adjudicate this application<br />
until early 2010 when they announced that not just the<br />
funding to the purchase of the property was approved,<br />
but also funding for the full refurbishment and<br />
conversion of the property.<br />
<strong>MDF</strong> Gauteng took ownership of a suitable<br />
property situated on Ontdekkers Road, Roodepoort<br />
in January 2011 where Pieter immediately<br />
undertook the demanding task of the refurbishment<br />
project to ensure that the building provided not only<br />
suitable offices for the Gauteng Branch and the <strong>MDF</strong><br />
National Office but also full accessibility for people<br />
with disabilities. This office became the centre hub<br />
of the <strong>MDF</strong> and is now well known and established<br />
among the <strong>MDF</strong> and members and the community<br />
in which it is located.<br />
Throughout this time, Pieter served as vice<br />
chairperson on the Gauteng executive<br />
committee and as a member on the national executive<br />
committee, ensuring the implementation of the<br />
organisation goals and objectives. With the<br />
significant growth that was experienced, the <strong>MDF</strong><br />
Gauteng Branch decided to create a position for a<br />
general manager, a salaried employee, which was<br />
made financially possible only due to Pieter’s hard<br />
work, fundraising efforts and complete dedication.<br />
The committee encouraged Pieter to apply for the<br />
position and he became the very first general<br />
manager of the <strong>MDF</strong> Gauteng Branch, a position he<br />
filled with pride and incredible success.<br />
With competent salaried employees, a well-established<br />
location and respected brand, the <strong>MDF</strong><br />
Gauteng Branch grew from strength to strength and<br />
was able to increase the fulfilment of its obligations,<br />
and in line with the branch’s strategic goals, Pieter<br />
employed the first permanent social worker in order<br />
to reach out to the members in Gauteng at home,<br />
establish support groups and bring in new affected<br />
members.<br />
The appointment of the social worker increased<br />
the branch’s line of sight to our members and<br />
24
People<br />
Pieter soon realised that it was essential to increase<br />
this service to reach more members. With this<br />
knowledge, Pieter provided reasons and<br />
successfully applied to the Department of Social<br />
Development (DSD) for a social worker grant, which<br />
enabled the branch to employ more social workers<br />
and candidate social workers. This placed four<br />
social workers on the ground, and with Pieter’s<br />
meticulous attention to detail and fanatical reporting<br />
back to the DSD, the grant was renewed annually<br />
for the last five years.<br />
Pieter was a very competent manager, which<br />
stemmed from his extensive employment<br />
history and qualifications, and he was always very<br />
sensitive to the financial challenges any non-profit<br />
organisation (NPO) faces in South Africa.<br />
He always managed the branch’s finances with care<br />
and respect to the donors that funded the organisation,<br />
and always fulfilled a fundamental basic<br />
principle of acknowledging and thanking even the<br />
smallest donor, whether in money, materials or time.<br />
He simply believed in building sound relationships<br />
with all stakeholders, based at all times on sincere<br />
respect and dignity.<br />
For that reason Pieter built up a long list of<br />
donors, who donated to the <strong>MDF</strong> on a regular basis,<br />
simply because of the trust that he instilled in<br />
people, who knew that the funding was managed in a<br />
responsible way and was applied appropriately to<br />
the needs of the <strong>MDF</strong>.<br />
He built up significant networks across the<br />
boundaries of organisations to other NPOs,<br />
companies, service providers and the like, and many<br />
of his successes can be credited to this consistent<br />
interest and passion for the cause which he worked<br />
for, all the time with respect and dignity to all.<br />
Seasoned committee members for many years<br />
would contact him and obtain advice and guidance.<br />
He was truly a doyen in the world of NPOs which<br />
is very much because of his love for the organisation<br />
and the members he served. For many of our<br />
members, the <strong>MDF</strong> was Pieter, and Pieter was the<br />
<strong>MDF</strong>.<br />
25
However, Pieter was a lot more than his work with<br />
the <strong>MDF</strong>. He was a husband, father and friend to<br />
many people. Those who had the privilege of having<br />
him in their lives will always remember him fondly.<br />
Robert Scott, who worked alongside Pieter at the<br />
<strong>MDF</strong>, said: “I will always remember him as more<br />
than a colleague, he was my friend and I will miss<br />
him a great deal.”<br />
Win van der Berg, Chairperson of the Cape Branch<br />
committee, had the following to share: “Pieter will<br />
always hold a special and dear place in my heart.<br />
In the early years we worked closely together when<br />
things were really difficult to manage and we were<br />
feeling our way along in pursuit of providing support<br />
and equipment to our Muscular Dystrophy friends.”<br />
She added: “He was a brilliant friend whom I could<br />
call on whenever I needed someone to sound off on<br />
any new ideas or thoughts. In times of trouble he<br />
was by my side always ready to commiserate and<br />
cheer me up. In good times we shared in the spirit<br />
of achievement. He far outpassed me in matters of<br />
fundraising for the Gauteng Branch. A fact I'm still in<br />
awe of today. The branch was so lucky to have such<br />
an exceptional person within their ranks. It's always<br />
too soon to say goodbye especially to such a very<br />
dear and special friend.”<br />
Gerda Brown, General Manager of the National<br />
Office, remembers Pieter fondly and had the<br />
following words to say: “It is so difficult to write<br />
something about Pieter because how do you<br />
capture his spirit in words. He had such a big<br />
spirit. He had such a big personality. My journey<br />
with Pieter began when I joined the Muscular<br />
Dystrophy Foundation, first as a committee member<br />
for the Gauteng Branch and later as a colleague and<br />
friend. I have learned so much from him. He had<br />
vast knowledge about muscular dystrophy and was<br />
loved by everyone who crossed his path. The <strong>MDF</strong><br />
house is empty without him.”<br />
Lee Leith of the <strong>MDF</strong> executive committee had the<br />
following to say when remembering Pieter: “I have<br />
a smile on my face when I remember Pieter’s bright<br />
eyes, wide smile and ready laugh. He had such<br />
wonderful characteristics. He was a man of few<br />
words but those words meant so much to fellow<br />
colleagues as he had such a wise way of<br />
simplifying problems. He was a good friend to<br />
see each year when those of us who lived far<br />
away, like Cape Town, would meet for our annual<br />
general meeting and strategy planning. Recently our<br />
meetings have been held via Skype and we would<br />
exclaim, ‘Good, there is Pieter in the front row!’<br />
Often a phone call to him gave reassurance to those<br />
who were affected by this disorder, through his own<br />
experience of the disease. He gave confidence to<br />
those who shared the challenge of working with the<br />
Muscular Dystrophy Foundation. Thank you Pieter,<br />
we will miss you.”<br />
Christo Dippenaar, <strong>MDF</strong> member, said: “I believe<br />
you can find some peace in the words that Pieter is<br />
in a better place than us, where there is no pain. In<br />
1 Thes. 4;13 Paul said, “We grieve not as those who<br />
have no hope”. In other words, we’ll meet again in<br />
Heaven.<br />
All those who knew Pieter had the same blessing in<br />
that he affected their lives in a positive way. He will<br />
be deeply missed and never forgotten.<br />
26
27
Research<br />
Top 10 Muscular Dystrophy Articles of 2018<br />
By Jose Marques Lopes, PHD<br />
Throughout 2018, Muscular Dystrophy News Today<br />
provided daily coverage of new therapeutic strategies,<br />
clinical trials, and other topics related to muscular dystrophy<br />
(MD).<br />
As we look forward to reporting more news to patients,<br />
family members, and caregivers dealing with MD in <strong>2019</strong>,<br />
here are the Top 10 most-read articles of 2018, with a brief<br />
description of their relevance to the MD community.<br />
No. 10 – “Acceleron’s ACE-083 Therapy Candidate<br />
for FSHD Earns FDA’s Fast Track Designation”<br />
An investigational treatment for facioscapulohumeral<br />
muscular dystrophy (FSHD) called ACE-083 was<br />
granted fast track designation by the U.S. Food and Drug<br />
Administration. ACE-083 is a locally-acting compound<br />
that inhibits proteins in the TGF-beta family, such as<br />
myostatin. This action is intended to increase muscle strength<br />
in FSHD patients, who have skeletal muscle weakness and<br />
loss. The designation aims to accelerate the development of<br />
promising therapies for conditions with serious unmet needs.<br />
It was based on the positive results of the first part of a Phase<br />
2 clinical trial (NCT02927080; see No. 3 on this list).<br />
No. 9 – “Family’s Quest for ‘Overlooked’<br />
Duchenne Treatments Leads to Breast Cancer<br />
Medicine Tamoxifen”<br />
In August, we published a story on the use of the breast<br />
cancer therapy – tamoxifen – to treat Duchenne MD (DMD).<br />
Tamoxifen is a selective estrogen receptor modulator<br />
hormonal therapy that, when used with Evista<br />
(raloxifene), improved cardiac, respiratory and skeletal muscle<br />
functions, and increased bone density in a mouse model of<br />
the disease. Our article focused on Gavin Ward, an 8-yearold<br />
boy who was one of the first DMD patients in the U.S. to<br />
receive tamoxifen. He started this treatment six weeks after<br />
diagnosis. His father, Bruce, said Gavin’s hand grip<br />
strength and exercise capacity markedly improved with the<br />
therapy, and he also grew 2 inches and gained 9 pounds.<br />
His pediatrician, Vikki A. Stefans, MD, said that, unlike<br />
steroids, the chances for significant side effects with<br />
tamoxifen in males are not high. Two studies are being<br />
conducted to evaluate tamoxifen in DMD, one of which<br />
is a Phase 3 trial (NCT03354039) that is still recruiting<br />
participants in Germany and Switzerland.<br />
No. 8 – “Givinostat Phase 3 Trial Recruiting<br />
Duchenne Patients in North America, Europe”<br />
Givinostat is an investigational therapy intended to boost<br />
muscle regeneration in DMD patients. A multicenter,<br />
international Phase 3 trial (NCT02851797) on this<br />
treatment by Italfarmaco is enrolling boys older than 6 years.<br />
Givinostat’s ability to slow disease progression will be<br />
evaluated, measured by a change in the time taken to climb four<br />
stairs after 18 months of treatment. Other functional tests will<br />
be conducted, and muscle tissue will be analyzed by imaging.<br />
Givinostat is an inhibitor of enzymes called histone<br />
deacetylases (HDACs), which changes the 3D folding of<br />
DNA. Patients with DMD have higher-than-normal HDAC<br />
levels, which may prevent muscle regeneration and proper<br />
muscle contraction. An earlier Phase 2 trial (NCT01761292)<br />
showed that one-year treatment in boys ages 7-11 slowed<br />
their disease progression, among other benefits.<br />
No. 7 – “New CRISPR Strategy Corrects Wider<br />
Range of Mutations Responsible for DMD”<br />
A gene editing strategy based on the CRISPR-Cas9<br />
technology restored dystrophin production and contraction<br />
force in heart muscle cells of DMD patients. The new<br />
approach, called myoediting, targets the top 12 “hot spots”<br />
of mutations along the DMD gene so that a wide region<br />
of these hot spots is skipped from the final dystrophin<br />
protein. The team from the U.S. and Germany found that<br />
editing only 30-50% of heart muscle cells was sufficient to<br />
restore their cardiac function to near-normal levels. Exonics<br />
Therapeutics has licensed the new method, aiming to<br />
develop it for DMD and other neuromuscular disorders.<br />
28
Research<br />
No. 6 – “UT Researcher, with Cure Duchenne<br />
Support, Launches Company to Treat DMD Using<br />
CRISPR/Cas9 Technology”<br />
In <strong>April</strong>, we reported the launch of Exonics, which resulted<br />
from a collaboration between Eric Olson – a scientist with<br />
a long career in muscle biology and the director of UT<br />
Southwestern’s Hamon Center for Regenerative<br />
Science and Medicine in Dallas – and the nonprofit group<br />
CureDuchenne. The new company is using the<br />
SingleCut CRISPR-Cas9 technology aiming to correct up to 80<br />
percent of the 3,000 mutations that cause DMD. “We are<br />
really encouraged about the data suggesting this can be a<br />
life-changing therapy for patients who need it,” Olson<br />
said. Olson’s work had been supported by Parent Project<br />
Muscular Dystrophy (PPMD), a nonprofit group. The<br />
scientists will assess the method’s safety, whether it<br />
generates an immune response, and also if the benefits are<br />
stable. “We believe it will be, particularly in the heart,”<br />
Olson said.<br />
No. 5 – “Sarepta’s Gene Therapy Improves<br />
Muscle Function in 4 Boys with DMD, Phase 1/2<br />
Trial Shows”<br />
Four boys with DMD treated with a single dose of Sarepta<br />
Therapeutics’ intravenous gene therapy in an ongoing Phase<br />
1/2 trial (NCT03375164; see No. 4 and No. 1) showed<br />
improvements in all four functional parameters tested –<br />
such as time to rise and the four-stair climb test – as well<br />
as a pronounced increase in dystrophin production in their<br />
muscles. The potential treatment, called AAVrh74.MHCK7.<br />
micro-dystrophin, delivers a version of the DMD gene that<br />
is shorter but still able to restore dystrophin’s function. It<br />
specifically targets muscle tissue, in particular the heart<br />
muscle. The four boys also showed a marked decrease (more<br />
than 78%) of blood levels of creatine kinase, a marker of<br />
muscle inflammation. No serious adverse events were<br />
reported. The company plans to start a confirmation trial,<br />
which, if successful, may make the new therapy available<br />
for DMD patients.<br />
No. 4 – “Microdystrophin Gene Therapy Shows<br />
Promising Interim Results in Phase 1/2 Trial”<br />
Our No. 4 article of 2018 covered preliminary findings of the<br />
Phase 1/2 trial of Sarepta’s DMD gene therapy, developed<br />
by scientists at Nationwide Children’s Hospital (see No. 5<br />
and No. 1). The study’s design included two groups – one<br />
with have infants and toddlers ages 3 months to 3 years, and<br />
the second with children 4 to 7 years old. Muscle biopsy at<br />
three months revealed that the first three boys treated (ages<br />
4-7) had robust (76.2%) microdystrophin gene expression<br />
in muscle tissue. As found later in the trial (see No. 5), all<br />
three patients showed a significant decrease in blood levels<br />
of creatine kinase, suggesting effective muscle protection.<br />
No. 3 – “Acceleron Therapy Increases<br />
Facioscapulohumeral Dystrophy Patients’ Muscle<br />
Mass, Trial Shows”<br />
Besides its fast track designation described in No. 10 of<br />
this list, the Phase 2 results of Acceleron’s ACE-043 also<br />
received significant interest from our readers in 2018. The<br />
main goals of the dose-escalation study (NCT02927080)<br />
were to see if the FSHD treatment candidate was safe<br />
and if it increased the patients’ muscle mass. Preliminary<br />
results from 23 patients revealed that injecting ACE-083 once<br />
every three weeks into the lower leg’s tibialis anterior and the<br />
upper arm’s biceps brachii increased muscle mass by<br />
12.6% and 13.2%, respectively. An associated decrease in<br />
muscle fat was also observed. No serious adverse effects were<br />
reported.<br />
No. 2 – “Pfizer Launches Phase 1b Clinical Trial for<br />
Mini-Dystrophin Gene Therapy to Treat DMD”<br />
The start of Pfizer’s ascending dose Phase 1b trial<br />
(NCT03362502) of an investigational mini-dystrophin<br />
gene therapy was the second most-read article of 2018.<br />
PF-0693992 is a shortened version of the DMD gene,<br />
which uses a carrier – the adeno-associated virus serotype 9<br />
capsid – known for its ability to specifically target the<br />
muscles. Twelve boys ages 5-12 years were included. The<br />
first patient received the intravenous therapy on March<br />
22. The scientists will assess the therapy’s safety and<br />
tolerability, dystrophin’s expression and distribution, and<br />
muscle function and strength. Results are expected in the<br />
first half of <strong>2019</strong>, when all patients will have completed one<br />
year of treatment.<br />
No. 1 – “Young Boy Becomes First DMD Patient to<br />
Receive Investigational Systemic Microdystrophin<br />
Gene Therapy”<br />
Our most-read article of 2018 reported the start of the Phase<br />
1/2 trial (NCT03375164) testing Sarepta’s microdystrophin<br />
gene therapy for DMD patients (see No. 4 and No. 5).<br />
Besides muscle biopsies at baseline (the beginning of the<br />
trial) and three months of treatment, the study design<br />
included safety assessments up to three months after therapy<br />
delivery. PPMD partially funded the trial through a $2.2<br />
million grant. Other funding and support was provided by<br />
Sarepta.<br />
At Muscular Dystrophy News Today, we hope these news<br />
stories, along our reporting throughout <strong>2019</strong>, contribute to<br />
informing and improving the lives of everyone dealing with<br />
MD.<br />
Article posted online by Muscular Dystrophy News Today,<br />
2 January <strong>2019</strong>, at: https://musculardystrophynews.<br />
com/<strong>2019</strong>/01/02/top-10-muscular-dystrophy-articles-<br />
2018/?fbclid=IwAR16nfqFZlEZkLJ9tOOxJaTjOn955Uyko<br />
XtE7QmEVJfTbZ_dlKBW_hVpTLA<br />
29
Healthy<br />
Sex – A guide for Parents<br />
By Robert Scott<br />
You find yourself in the position that parents all over the<br />
world eventually find themselves in – your child has reached<br />
that stage in life where their sexuality is starting to rouse.<br />
In this article we will look at different ways of dealing with<br />
your adolescent’s sexuality as well as various strategies.<br />
This is not a foolproof strategy but it will assist you as a<br />
parent in managing a topic that causes many parents to feel a<br />
little uneasy. This guide is to help you as a parent of a child<br />
with a neuromuscular disorder.<br />
“The talk”<br />
The time has come to face the dreaded “talk”. This may<br />
make you feel uneasy and you are not sure what to say. This<br />
talk will be a little awkward whether you want it to be or<br />
not. Your teenager will give you the characteristic eye-rolls<br />
and you may even hear “do we really have to talk about<br />
this?” One crucial thing to remember is that you have been<br />
involved with your child’s sexual development all along from<br />
when you told them about how boys and girls are different,<br />
but as time goes on this becomes increasingly complicated<br />
when you need to start addressing issues such as sexuality,<br />
dating and sexual relationships.<br />
What you need to remember is that your teen needs<br />
answers and you are in the best position to answer them! Just<br />
remember to be honest and answer questions as best you<br />
can. Also, it is important to remember that this needs to be a<br />
conversation, so do not attempt to force your child to<br />
see things the way you do. If you keep this in mind the<br />
conversation will be easier and constructive.<br />
Puberty<br />
Muscular Dystrophy Canada (2013), in their booklet Let’s<br />
talk about sex: a resource for parents, says the following:<br />
Puberty is a critical stage in your child’s development.<br />
Your teen’s body is maturing. However, depending on<br />
the type of neuromuscular disorder, this physical turning<br />
point may occur later for your child than for others of the<br />
same age. For example, boys with Duchenne muscular<br />
dystrophy often have plump, hairless faces, making them<br />
look younger than their peers.<br />
It is important to keep in mind that despite her or his<br />
physical disability, your child is becoming an adult, a<br />
sexual being capable of reproduction. The hormonal<br />
development that comes with puberty happens to all<br />
adolescents. These changes inevitably lead to an<br />
exploration of one’s own body and the accompanying<br />
sensations, including masturbation. This can<br />
sometimes be more complicated for young people with<br />
neuromuscular disorders because of a lack of<br />
coordination, spasms, pain or muscle weakness.<br />
If you are comfortable discussing this very intimate<br />
subject with your teen, you should know that there are<br />
technical aids, such as body harnesses, that can facilitate<br />
this self-exploration.”<br />
Sexual identity and body image<br />
Your adolescent is reaching that stage in life where they are<br />
adjusting to the new body image that comes with puberty and<br />
this will involve many mixed emotions.<br />
Your teenager will also try to exert greater independence;<br />
30
however, remember to keep a balance between letting them<br />
spread their wings and also obeying your authority and rules<br />
as their parent.<br />
The media will also have an impact on how they see<br />
themselves. Muscular Dystrophy Canada (2013) elaborates<br />
on this topic:<br />
Teenagers often compare themselves to others while at the<br />
same time wanting to stand out. Since children affected<br />
with a neuromuscular discorder [sic] have significant<br />
physical differences, they may struggle to find ways to<br />
make themselves more attractive to others. Like all teens,<br />
they must learn to accept their new body image as well as<br />
the differences related to their disability. The enormous<br />
pressure exerted by media-driven images of beauty can<br />
create inferiority complexes, so it’s important to talk with<br />
your teen about issues surrounding appearance and how<br />
comfortable they are in their “own skin.”<br />
Concerning stereotypes that your teen may face, Muscular<br />
Dystrophy Canada (2013) elaborates as follows.<br />
When someone does not match the typical<br />
stereotypes of beauty, they run the risk of developing low<br />
self-esteem, eating disorders and even depression. These<br />
stereotypes are often reinforced by media advertising,<br />
movies and even fairytales heard at a very young age.<br />
You should make your child aware of the dangers of such<br />
stereotypes and make it clear that only a very small<br />
percentage of people actually meet these media-driven<br />
standards of beauty. You could look at some images<br />
together and encourage your teen to develop a critical view<br />
of advertising, or watch the videos on the Dove website. This<br />
way, your child will be better equipped to face stereotypes.<br />
Your teen’s sexual orientation<br />
Your teen will go through a stage of discovery where they<br />
may begin to question their own sexuality. They may be attracted<br />
to others of the same sex, opposite sex or even both<br />
sexes, or they may not be attracted to anyone at all.<br />
It is crucial to remember that there is nothing wrong with<br />
how your teen feels, and during this time they may even start<br />
to worry about rejection by their peers.<br />
If your teen is not comfortable discussing this with you, help<br />
them find someone they can talk to.<br />
Relationships and online dating<br />
Healthy<br />
Relationships can be tricky no matter what your age. This<br />
is even more so when you are a teenager in the throes of<br />
puberty and sexuality, with hormones running wild. You<br />
need to tell your teen the important things such as knowing<br />
their own limits and respecting themselves as well as others.<br />
Muscular Dystrophy Canada (2013) also addresses the<br />
following important factor relating to the child’s<br />
expectations of a romantic partner:<br />
His or her romantic partner is not a replacement<br />
for you. If they are looking for someone who can<br />
provide the same care and attention that you do, there<br />
is a real risk the relationship will go awry. In love,<br />
one should desire the other person without always<br />
expecting to be taken care of as in a nurse/patient<br />
relationship. Talk to your teen about her or his<br />
expectations in a romantic relationship and the role of<br />
each partner.<br />
In today’s age of technology, online dating has become more<br />
prevalent than we may care to admit. This may seem like an<br />
even more attractive option for a teen with a neuromuscular<br />
disorder. However, the online world can be an extremely<br />
dangerous place and it is important to make your teen aware<br />
of the potential dangers.<br />
One of the most popular trends has become the sending<br />
of nude photographs, and your teen should be told that<br />
this is a serious no-no. Additionally they should not send<br />
personal information that could enable a stranger to find them,<br />
and if they ever want to meet up with someone they should<br />
always arrange to meet in a public place and have a trusted<br />
person accompany them to avoid any dangerous situations<br />
that could otherwise arise.<br />
Sex<br />
The subject of sex needs to be approached properly with your<br />
teen. It is important that you and your teen be aware that<br />
penetration does not need to take place in order to have a<br />
sexual relationship – examples are masturbation and body<br />
touching.<br />
A subject that needs to be looked at is that of birth control.<br />
There are many options available that can prevent unwanted<br />
pregnancy and the transmission sexual diseases.<br />
31
Healthy<br />
The various types of birth control are listed by Muscular<br />
Dystrophy Canada (2013) as follows:<br />
The birth control pill, the patch and vaginal rings:<br />
These methods prevent ovulation, thereby reducing the<br />
risk of fertilization and pregnancy. However, they are not<br />
recommended for your daughter with a neuromuscular<br />
disorder because they may increase the risk of blood clots.<br />
Depo-Provera: This is an injection given four times per<br />
year. It is likely to stop menstrual cycles after the first year<br />
of use, so it’s practical in terms of hygiene. It also contains<br />
no estrogen, a hormone that can cause blood clots. On the<br />
other hand, it’s important to note that this treatment may<br />
reduce bone density, so your doctor might recommend a<br />
calcium supplement. When injections stop, Depo-Provera<br />
may remain active for another nine months and continue<br />
to prevent fertilization.<br />
The IUD (coil): This method is available in two<br />
forms, with or without hormones. Like Depo-Provera,<br />
the intra-uterine device with hormones contains only<br />
progesterone and may therefore be a good option.<br />
Whichever form is chosen, it works for five years.<br />
One drawback is that it must be checked regularly to<br />
ensure the two “arms” of the device are staying in place.<br />
Furthermore, bleeding may occur between menstrual<br />
periods in the first months after implantation by the doctor.<br />
The diaphragm: This method requires a significant<br />
amount of manipulation. A doctor’s advice is needed to<br />
determine the correct size. When properly used, it creates<br />
a sperm barrier. For greater effectiveness, a spermicide<br />
should also be used.<br />
Condoms: This is the only contraceptive available for<br />
males. Condoms vary greatly in size, texture, colour, etc.<br />
Most are made of latex, but people who are allergic to<br />
latex can choose polyurethane condoms. This method<br />
protects against some sexually-transmitted and<br />
blood-borne infections (STBBIs). Please note that if a<br />
lubricant is used with a condom, it must be water-based.<br />
The female condom: This method offers the same<br />
advantages as the male condom: it’s very effective against<br />
STBBIs and unwanted pregnancies. A gel lubricant is<br />
recommended for added comfort. However, installing the<br />
female condom can be challenging and a few tries may<br />
be necessary. The female condom is also more expensive<br />
than its male counterpart.<br />
The issue of abuse<br />
It is important to remember that people with any physical<br />
disabilities are in a vulnerable position and may be open<br />
to sexual abuse. This is even more so in cases where the<br />
individual requires personal care as the people providing this<br />
care could take advantage of the situation. You should make<br />
it clear to your child that if they experience anything that<br />
makes them uncomfortable they should tell you immediately.<br />
Furthermore, it is a good idea to ensure that they know the<br />
difference between what is appropriate and what isn’t. Sexual<br />
abuse does not have to be physical either; it can take the form<br />
of spoken words too. It is crucial that your child know the<br />
difference.<br />
There are certain warning signs that you as a parent can keep<br />
an eye out for that could be signs of abuse. These include<br />
increased sexual urges, aggression or a complete loss of<br />
interest in sex altogether.<br />
Your child should be able to speak to you without any fear,<br />
and it is important that you cultivate an environment of safety<br />
with your child.<br />
In the end . . .<br />
Despite your child having a neuromuscular disorder, they<br />
are going to go through all the changes that every child<br />
experiences in life. What matters is how you and they deal<br />
with it.<br />
Whether you like it or not, they are interested in sex and<br />
are going to want to explore. You are their parent and you<br />
can keep them well informed and forewarned so that they<br />
develop in a healthy way without fear of judgement.<br />
Don’t be scared to talk to your child about sex; it really isn’t<br />
that bad, and they may even thank you for those awkward<br />
conversations one day!<br />
References<br />
Muscular Dystrophy Canada. 2013. Let’s talk about sex:<br />
A resource for parents. http://muscle.ca/wp-content/uploads/2012/11/SexualityParentGuide13-E.pdf<br />
32
Prof Amanda Krause, MBBCh, PhD MB BCh,<br />
Medical Geneticist/Associate. Professor.<br />
Head: Division of Human Genetics.<br />
National Health Laboratory Service (NHLS)<br />
& The University of the Witwatersrand.<br />
Please e-mail your questions about genetic counselling to national@mdsa.org.za.<br />
Are care management protocols in place in South Africa for patients<br />
with muscular dystrophies?<br />
Care management protocols are a team-based, patient-centred approach designed to assist patients and their support systems in<br />
managing medical conditions more effectively. No specific protocols that are nationally approved and applicable to all patients are in<br />
place in South Africa for patients with muscular dystrophy. Importantly, the protocols for patients with muscular dystrophies in South<br />
Africa are similar to those for patients elsewhere in the world. Thus most treating clinicians would tend to refer to international care<br />
protocols and follow these or adapt them. Care management protocols assist patients to get comprehensive and systematic care in a<br />
coordinated fashion. Unfortunately, the majority of patients have relatively limited access to comprehensive care and particularly<br />
team-based care.<br />
What medical professionals should I enlist for my care management if I have muscular dystrophy?<br />
There are many different muscular dystrophies, which affect individuals of all ages and to different degrees. They may also affect other<br />
organ systems to varying degrees. All individuals should have one health professional who is primarily responsible for their care and<br />
who coordinates their visits and assessments with those of other health professionals. The primary carer should ensure that all their<br />
treatments and medications are coordinated and that no medications or therapies interact adversely. The primary carer would<br />
typically be a neurologist but could be one of many types of heath care professional. People with muscular dystrophy may also require<br />
assessment and management by other clinicians, including cardiologists, pulmonologists, orthopaedic surgeons, gastroenterologists, general<br />
paediatricians and general physicians.<br />
Allied health care professionals are also extremely important in the care of individuals with muscular dystrophies as they support<br />
diagnosis, recovery, and quality of life. These include physiotherapists, occupational therapists, biokineticists, speech therapists and<br />
dieticians, who should all work not only to assist patients to maintain strength and mobility but also to ensure that appropriate assistance<br />
is provided for activities of daily living.<br />
Medical geneticists and genetic counsellors are also important as they can assist not only in directing appropriate genetic testing for a<br />
confirmation of diagnosis but also in defining risks for other family members. Genetics professionals also assist in directing appropriate<br />
health care and ensuring that individuals have the information required to deal with their disease. Genetic counselling is the process of<br />
helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This<br />
process integrates the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence, education<br />
about inheritance, testing, management, prevention, resources, research and counselling to promote informed choices and adaptation to<br />
the risk or condition.<br />
Doctor’s<br />
Are there any supplements or vitamins that should be taken if you are diagnosed with MD?<br />
Most muscular dystrophies are genetic conditions. Thus vitamins and supplements do not usually influence the course of the disease.<br />
However, all individuals should have a healthy diet with adequate intake of vitamins and minerals. Some individuals with MD may have<br />
increased energy requirements, whilst others, with limited mobility, have reduced requirements.<br />
33
Sandra’s thoughts on…<br />
Inspiration<br />
By Sandra Bredell (MSW)<br />
Inspiration in English, inspirasie in Afrikaans, ugqozi<br />
in Zulu and iphefumlelwe in Xhosa is described as<br />
“the process of being mentally stimulated to do or feel<br />
something” (Vocabulary.com). “Inspire” derives from<br />
the Latin word “inspirare”, which means “to blow into”. It<br />
makes one think of a fire and blowing air over a flame to<br />
make it bigger (Kaufman, 2011a).<br />
To be inspirational means to offer some upliftment to<br />
others so that they become more motivated to be the<br />
best that they can be. It also refers to being an example<br />
to others and to motivate and encourage others to grow<br />
and reach their potential (Biography Online).<br />
Inspiration comes in many forms. Sometimes a<br />
movie or a book can inspire or energise you to create<br />
something, start a new project or sport or even take a<br />
whole new direction in your career. In everyday life a lot<br />
of pressure is directed at measuring talent and abilities.<br />
So often inspiration is overlooked in a culture obsessed<br />
with success and performance. Inspiration plays an<br />
important role in opening up new opportunities and<br />
possibilities in changing our perspective on ordinary<br />
experiences and our limitations (Kaufman, 2011b).<br />
Who or what is your inspiration in life? Where and how<br />
do you get motivated and energised to keep going?<br />
In answering these questions, what would be<br />
characteristics of an inspirational person? They most<br />
likely would not be selfish, they would not act out of<br />
pride or superiority, they would have courage to do what<br />
is right, they would stick to their principles. Inspirational<br />
people are usually positive and happy people with a<br />
vision of hope (Kaufman, 2011b).<br />
It is wonderful to have places or things that inspire<br />
you and even to have an inspirational person or role<br />
model, but have you given enough thought to being an<br />
inspiration to yourself and others? It all starts with you.<br />
The 5 Second Rule by Mel Robbins states: “If you<br />
have an instinct to act on a goal, you must physically<br />
move within five seconds or your brain will kill it” (Chai,<br />
2017). So the next time you get a great idea, try to count<br />
from 5 to 1 and act. Also try to cut down the stress and<br />
drench yourself in motivational literature and movies.<br />
This will remind you of your intention to create or do<br />
something towards your goal. And finally talk to the<br />
person that knows you best... you. This type of<br />
conversation, however, needs to be in a positive<br />
manner. You need to affirm and remind yourself of who<br />
you are and what you want to achieve. Let’s get inspired<br />
to reach our goals (Chai, 2017).<br />
Inspire yourself and you will inspire others.<br />
References<br />
Biography Online. (No date). “Inspirational definition”.<br />
https://www.biographyonline.net/people/inspirational/<br />
definition.html<br />
Chai, N. (2017). “The 5 best ways to motivate yourself”.<br />
Success, 7 September. https://www.success.com/the-<br />
5-best-ways-to-motivate-yourself/<br />
Kaufman, S.B. (2011a). “Why inspiration matters”.<br />
Harvard Business Review, 8 November. https://hbr.<br />
org/2011/11/why-inspiration-matters<br />
Kaufman, S.B. (2011b). “Why inspiration matters: inspiration<br />
impacts everything”. Psychology Today, 5 October.<br />
https://www.psychologytoday.com/us/blog/beautiful-minds/201110/why-inspiration-matters<br />
Vocabulary.com. (No date). “Inspire”. https://www.vocabulary.com/dictionary/inspire<br />
34
Cape Branch<br />
Adult Support Group: 2018 Send-off<br />
On 3 December 2018 we<br />
celebrated the end of another<br />
successful year of our adult<br />
support group programme and<br />
the International Day of People<br />
with Disabilities. We all got into<br />
the festive spirit and chatted the<br />
morning away over coffee and<br />
good food. A special thanks and<br />
congratulations to everyone who<br />
was involved in the programme<br />
during 2018. We are very<br />
privileged to be a part of your<br />
journey.<br />
Children’s Support Groups<br />
It is with great excitement that we launched our school-based support group programmes for the year. We are so<br />
happy to continue our partnership with Astra LSEN School, Eros LSEN School and Tembaletu LSEN School. Many<br />
thanks to these partners for the opportunity and platform to run muscular dystrophy and Duchenne muscular dystrophy<br />
support groups. Our incredible social auxiliary workers, Mariam Landers and Zukiswa Peza, have done a wonderful<br />
job running these sessions during the first quarter of the year. We can't wait to see the wonderful things these<br />
programmes will achieve during the rest of <strong>2019</strong>.<br />
Adult Support Group:<br />
<strong>2019</strong> Kick-off<br />
February marked the beginning of our <strong>2019</strong> adult<br />
support group programme. We kicked things into gear with a<br />
Valentine's Day social. Our members had the opportunity<br />
to reconnect after the long festive break and to share their<br />
thoughts and ideas for the <strong>2019</strong> programme. Thank you to<br />
everyone who attended this meeting. If you couldn't make it,<br />
don't fret! We host a meeting on the first Saturday of every<br />
month, and you are always welcome to join us.<br />
35
Gauteng Branch<br />
A day not soon forgotten . . .<br />
It was an early morning wake-up, and while most of South Africa slept thousands of cyclists were making their<br />
way to Riversands Commercial Park. The Muscle Riders were ready and 94.7 kilometres lay in front of them.<br />
This day promised to be one that we would not soon forget!<br />
Over 200 Muscle Riders approached the start line<br />
ready for the epic ride ahead, and among them was a<br />
young boy, Mikaeel Laher (16 years old with Duchenne<br />
MD), who was about to take on the race in the Muscle<br />
Riders chariot! He was not alone though – he brought<br />
muscle with him and was to be pulled by a team of Muscle<br />
Riders lead by Angelos Frantzeskos.<br />
We sat with bated breath, wondering how our heroes<br />
were doing. We need not have worried – they were<br />
firmly in the saddle and showing everyone just what<br />
the Muscle Riders could do. The team pushed hard and<br />
made it across the line, and we could not be more proud<br />
of their unbelievable effort!<br />
Mikaeel had the following to say after the race: “I would like to thank the <strong>MDF</strong>, Angelos and team for giving me<br />
the opportunity to ride along in the chariot. I hope that more people will support the Muscle Riders team in future<br />
so that we can create more awareness and funds. I enjoyed every minute of it.”<br />
Angelos Frantzeskos added: “It was exhilarating to see someone so young enjoy the ride so much, it was an<br />
amazing experience.”<br />
A special thank you goes out to the Glencore Cycle Team for their overwhelming support – we could not have<br />
asked for a more inspirational and supportive team! Sannetjie Els of the Glencore team said how much the team<br />
enjoyed cycling with the Muscle Riders and that everyone had had a terrific time cycling for those affected with<br />
muscular dystrophy.<br />
The atmosphere at the cycle challenge was something that had to be seen to be believed. The air was full of<br />
the most amazing smells of delicious food nearby and cappuccinos that were nothing short of spectacular. The<br />
heat was unforgiving to say the least but that did nothing to the unbreakable spirit of all those who were cycling<br />
for people affected with muscular dystrophy.<br />
To each and every Muscle Rider, we are truly blessed to have each one of you behind us and we cannot wait<br />
to see what <strong>2019</strong> holds in store!<br />
36
Gauteng Branch<br />
Tashni van Schalkwyk<br />
Tashni was born on 18 October 2008 at Linksfield Hospital, Edenvale.<br />
She was diagnosed with SMA at a very young age.<br />
The brave and loving soul started her schooling career at Ithembilihle School, Primrose in 2015.<br />
She did incredibly well at school and had a special artistic talent.<br />
Reach For A Dream recognised her in this regard by inviting her to demonstrate her artistic<br />
talent.<br />
Tashni touched every person she came into contact with in a special way.<br />
She was a very intelligent child and managed to scoop an award at her school for best chess<br />
player.<br />
She was admitted to hospital on 15 January<strong>2019</strong>, where she was called to rest the following<br />
day.<br />
Tashni will be sorely missed by her mother, sister, nieces, cousins, uncles, aunts, extended<br />
family as well as the hospital and all those at her school.<br />
Franki Smith<br />
It’s always too soon to say goodbye. It is with very heavy<br />
hearts that we say goodbye to Franki Smith, who passed<br />
away on 18 February <strong>2019</strong> – he was an incredible young<br />
man. Our sincere condolences to his family. You are in<br />
our thoughts.<br />
Dumisani Talakumini<br />
Our thoughts and prayers go out to the Talakumini family. We are deeply saddened by the loss<br />
of Dumisani Talakumini on 28 November 2018. His kind and gentle nature and incredible artistic<br />
talent will be deeply missed.<br />
37