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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 />

14


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

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