MDF Magazine Newsletter Issue 58 April 2019


Autumn Issue 58

March 2019

R25.00 incl. VAT

Introducing the

parent's guide &

children's book

Muscular Dystrophy

Awareness Day

at Kabouterland!

Top 10

Muscular Dystrophy

Articles of 2018

In memory of Pieter Joubert

sully ctive

j a ckSt a n e

m a ib a 2go uggy

Posture Support Wheelchairs

24 hour Posture Management

Posture Support Buggies

The Sully Active Kids chair is a specially

designed rugged posture support wheelchair.

It is ideal for energetic and curious young

children who are able to self-propel and will

benefit from independent mobility to explore

the world. It is suitable for ages 18 months

to 5 years and can adjust to accommodate

basic to intermediate postural support needs.

It is designed to be highly maneuverable and

yet stable, allowing users with varying levels

of mobility skills to safely access more

demanding terrain.

The jackStander enables SAFE supported

standing during activities or therapy at

school and at home. Fully tilt adjustable

standing allows the child to be either upright,

in prone (on tummy) or supine (on back).

Regular short periods of supported standing

may stretch hip and lower limb muscles

and reduce the onset of spinal deformity.

Respiratory function, circulation, digestion

and bowel/bladder functioning may also be


Our Madiba Buggy and madiba2Go Buggy

are rugged posture support mobility devices

specifically designed to provide adjustable

full body support and comfort for children

from 6 months old, who are unable to sit

independently & require assisted propelling.

The madiba2Go seating system can also

be fitted onto an Active or Power base option

further expanding the modes of use for full

body posture support.

Shonaquip is South Africa’s leading paediatric wheelchair producer and service provider. We offer a wide range of award

winning, cost effective posture support devices providing mobility and support for effective 24 hour posture management.

These devices are backed by sound clinical expertise enabling custom options to be created for children with postural

and mobility disabilities. Please visit our website for assistance and further information.

Uhambo Foundation and Shonaquip are

a hybrid social enterprise working together

towards an inclusive society for children

with mobility and other disabilities.

Robust Inclusive Impact

Tel: +27 (0)21 797 8239 Email:



05 MDF notice board

06 National news

10 MD information


06 Introducing the parent's guide & children's book

07 Walk the Talk 2019

10 Myasthenia Gravis Fact Sheet

14 Every year, August has a focus on Spinal Muscular

Atrophy or SMA


16 Muscle Riders Appreciation Function

17 Muscular Dystrophy Awareness Day at Kabouterland!


18 Living in the Moment

19 A Day in the Life of a Person with MG

20 Living Independently With CMT

22 Tracey – Right on target

24 In memory of Pieter Joubert

Regular Features

33 Doctor’s corner

34 Sandra’s thoughts on …

Healthy Living

30 Sex – A guide for Parents


28 Top 10 Muscular Dystrophy Articles of 2018


Published by:

Muscular Dystrophy Foundation of SA

Tel: 011 472-9703



Publishing Team:

Managing Editor: Gerda Brown

Copy Editor: Keith Richmond

Publishing Manager: Gerda Brown

Design and Layout: Divan Joubert

Future Issues:

August 2019

(Deadline: 5 July 2019)

The Muscular Dystrophy Foundation

of South Africa

We are a non-profit organisation that supports

people affected by muscular dystrophy and

neuromuscular disorders and that endeavours to

improve the quality of life of its members.

From The

If you look up “transformation” in the dictionary you will find that it means a

marked change in form, nature, or appearance. Transformation is something

that many approach with hesitation, especially when they have been comfortable

with things the way they are. However, transformation is inherently a

change in the way things were, are or will be. This is often viewed as scary but,

at the end of the day, we all have to transform at one point or another because

time waits for no one.

The Muscular Dystrophy Foundation is experiencing a transformation as we

speak due to the tragic passing of the Gauteng Branch General Manager,

Pieter Joubert, on 3 January 2019. While this is a time to mourn for many, the

Foundation is transforming and the torch is being passed to those who stand

at the ready. We dedicate this issue of MDF Magazine to Pieter. “We will miss

you dearly.”

In this issue you can read about how cyclists raise awareness and much needed funds for the Foundation by

riding in the Telkom 947 Cycle Challenge. You can find out more about the children’s book that the Foundation

has launched and read inspiring stories of individuals affected by muscular dystrophy. There is also interesting

news on events, MD information, research articles and our regular features.

Warmest greetings and best wishes for good health and happiness in 2019.


Gerda Brown

My School Card

MySchool is South Africa’s biggest community-based

fundraising programme and raises over R4 million

every month for schools, charities and animal welfare


Every time you swipe your MySchool card at any

of the partner stores they make a donation on

your behalf to the beneficiary of your choice.

Please ask friends and family members to sign up for

a MySchool card and make the Muscular Dystrophy

Foundation of South Africa your chosen beneficiary,

which means the MDF would receive a percentage of

the purchase value whenever the card is used.

Some of the participating stores are Woolworths, Engen and Flight Centre.

Sign up at

Subscription and contributions to

the magazine

We publish three issues of MDF Magazine

a year and you can subscribe online

to the magazine or by calling your nearest


If you have any feedback on our publications,

please contact the National Office

by e-mail at

or call 011 472-9703.

Get all the latest news on the fight

against muscle-wasting conditions and

the latest research updates. It is our editorial

policy to report on developments

regarding the different types of dystrophy

but we do not thereby endorse any

of the drugs, procedures or treatments

discussed. Please consult with your own

physician about any medical interventions.

If you are interested in sharing your inspirational

stories, please let us know

and we'll be in touch to discuss this

with you. The Foundation would love

to hear from affected members, friends,

family, doctors, researchers or anyone

interested in contributing to the magazine.

Articles may be edited for space

and clarity.

MDF SA database

If you know people affected by muscular

dystrophy or neuromuscular disorders

who are not members, please

ask them to contact us so that we can

register them on our database. If we do

not have your current e-mail and postal

address, please contact your branch so

that we can update your details on our


How can you help?

Branches are responsible for doing their

own fundraising to assist members with

specialised equipment. Contact your

nearest branch of the Muscular Dystrophy

Foundation of South Africa to find

out how you can help with fundraising

events for those affected with muscular



Crossbow Marketing Consultants (Pty)

Ltd are doing invaluable work through

the selling of annual forward planners.

These products can be ordered from

Crossbow on 021 700-6500. For enquiries

contact the National Office by

e-mail at or call

011 472-9703.

MDF ::

MDF support information

For more information about the Muscular Dystrophy Foundation, the benefits of being

a member and details on how to become a member, call your nearest branch..




Tel: 011 472-9703

Address: 12 Botes Street, Florida Park,


Banking details: Nedbank, current account

no. 1958502049, branch code


CAPE BRANCH (Western Cape,

Northern Cape & part of Eastern



Tel: 021 592-7306

Fax: 086 535 1387

Address: 3 Wiener Street, Goodwood,


Banking details: Nedbank, current

account no. 2011007631,

branch code 101109


Free State, Mpumalanga, Limpopo

& North West)




Tel: 011 472-9824

Fax: 086 646 9118

Address: 12 Botes Street, Florida Park,


Banking details: Nedbank, current

account no. 1958323284

branch code 192841

Pretoria Office


Tel: 012 323-4462

Address: 8 Dr Savage Road, Prinshof,


KZN BRANCH (KZN & part of

Eastern Cape)


Tel: 031 332-0211

Address: Office 7, 24 Somtseu Road,

Durban, 4000

Banking details: Nedbank, current

account no. 1069431362

branch code 198765

General MD Information

Cape Town

Lee Leith

Tel: 021 794-5737



Robert Scott

Tel: 011 472-9824


Duchenne MD


Win van der Berg (Support Group)

Tel: 021 557-1423


Maxine Strydom (Support Group)

Tel: 031 762-1592

Cell: 083 290 6695


Jan Ferreira (Support Group – Pretoria)

Cell: 084 702 5290

Estelle Fichardt

Tel: 012 667-6806

Christine Winslow

Cell: 082 608 4820

Charcot Marie Tooth (CMT)

Hettie Woehler

Cell: 079 885 2512


Facioscapulohumeral (FSHD)

Francois Honiball

Tel: 012 664-3651

Barry Snow

Cell: 083 66 66 270

E-mail: barry.snow@worleyparsons.


Friedreich Ataxia (FA)

Linda Pryke

Cell no: 084 405 1169

Nemaline Myopathy

Adri Haxton

Tel: 011 802-7985

Spinal Muscular Atrophy (SMA)

Zeta Starograd

Tel: 011 640-1531

Lucie Swanepoel

Tel: 017 683-0287



What’s new?

When you first learn that your child has muscular dystrophy

the news is often unexpected and devastating. You may

experience a sense of powerlessness at the prospect of dealing

with the diagnosis and feel stressed at facing a future filled

with unknowns. As a first step, it is important to find out as

much as you can about your child’s condition and its care. The

more information you have, the less frightening the present

and future will seem.

The Muscular Dystrophy Foundation of South Africa has been

fortunate enough to receive a donation to enable us to draft a

parent’s manual and children’s book. These will be invaluable

tools to both parents and children in their journeys with

muscular dystrophy. Contact Gerda Brown at the National

Office if you are interested in acquiring a copy of the manual

and/or children’s book.



Walk the Talk 2019

Date: 28 July 2019

Where: Marks Park Sports Club, Emmarentia

Join the Muscular Dystrophy Foundation of South Africa at Walk the Talk 2019!

Help us make a difference by walking with our team to raise awareness and

funds for those affected with muscular dystrophy.

For more information email Gerda Brown


*Entries open in May 2019*



Gravis Fact


By the National Institute of Neurological

Disorders and Stroke

What is myasthenia gravis?

Myasthenia gravis is a chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles, which are

responsible for breathing and moving parts of the body, including the arms and legs. The name myasthenia gravis, which is

Latin and Greek in origin, means "grave, or serious, muscle weakness."

The hallmark of myasthenia gravis is muscle weakness that worsens after periods of activity and improves after periods of

rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing

are often (but not always) involved in the disorder. The muscles that control breathing and neck and limb movements may

also be affected.

There is no known cure but with current therapies most cases of myasthenia gravis are not as "grave" as the name implies.

Available treatments can control symptoms and often allow people to have a relatively high quality of life. Most individuals

with the condition have a normal life expectancy.

What causes myasthenia gravis?

Myasthenia gravis is caused by an error in the transmission of nerve impulses to muscles. It occurs when normal

communication between the nerve and muscle is interrupted at the neuromuscular junction—the place where nerve cells

connect with the muscles they control.

Neurotransmitters are chemicals that neurons, or brain cells, use to communicate information. Normally when electrical

signals or impulses travel down a motor nerve, the nerve endings release a neurotransmitter called acetylcholine.

Acetylcholine travels from the nerve ending and binds to acetylcholine receptors on the muscle. The binding of acetylcholine

to its receptor activates the muscle and causes a muscle contraction.

In myasthenia gravis, antibodies (immune proteins) block, alter, or destroy the receptors for acetylcholine at the

neuromuscular junction, which prevents the muscle from contracting. In most individuals with myasthenia gravis, this


is caused by antibodies to the acetylcholine receptor itself. However, antibodies to other proteins, such as MuSK

(Muscle-Specific Kinase) protein, can also lead to impaired transmission at the neuromuscular junction.

These antibodies are produced by the body's own immune system. Myasthenia gravis is an autoimmune disease because the

immune system—which normally protects the body from foreign organisms—mistakenly attacks itself.

The thymus is a gland that controls immune function and may be associated with myasthenia gravis. Located in the chest

behind the breast bone, the gland is largest in children. It grows gradually until puberty, and then gets smaller and is replaced

by fat. Throughout childhood, the thymus plays an important role in the development of the immune system because it is

responsible for producing T-lymphocytes or T cells, a specific type of white blood cell that protects the body from viruses and


In many adults with myasthenia gravis, the thymus gland remains large. People with the disease typically have clusters of

immune cells in their thymus gland similar to lymphoid hyperplasia—a condition that usually only happens in the spleen and

lymph nodes during an active immune response. Some individuals with myasthenia gravis develop thymomas (tumors of the

thymus gland). Thymomas are most often harmless, but they can become cancerous.

The thymus gland plays a role in myasthenia gravis, but its function is not fully understood. Scientists believe that the

thymus gland may give incorrect instructions to developing immune cells, ultimately causing the immune system to attack

its own cells and tissues and produce acetylcholine receptor antibodies—setting the stage for the attack on neuromuscular


What are the symptoms of myasthenia gravis?


Although myasthenia gravis may affect any skeletal muscle, muscles that control eye and eyelid movement, facial

expression, and swallowing are most frequently affected. The onset of the disorder may be sudden and symptoms often are not

immediately recognized as myasthenia gravis.

In most cases, the first noticeable symptom is weakness of the eye muscles. In others, difficulty swallowing and slurred

speech may be the first signs. The degree of muscle weakness involved in myasthenia gravis varies greatly among

individuals, ranging from a localized form limited to eye muscles (ocular myasthenia), to a severe or generalized form in

which many muscles—sometimes including those that control breathing—are affected.



Symptoms may include:

• drooping of one or both eyelids (ptosis)

• blurred or double vision (diplopia) due to weakness of the muscles that control eye movements

• a change in facial expression

• difficulty swallowing

• shortness of breath

• impaired speech (dysarthria)

• weakness in the arms, hands, fingers, legs, and neck.

Who gets myasthenia gravis?

Myasthenia gravis affects both men and women and occurs across all racial and ethnic groups. It most commonly impacts

young adult women (under 40) and older men (over 60), but it can occur at any age, including childhood. Myasthenia gravis

is not inherited nor is it contagious. Occasionally, the disease may occur in more than one member of the same family.

Although myasthenia gravis is rarely seen in infants, the fetus may acquire antibodies from a mother affected with

myasthenia gravis—a condition called neonatal myasthenia. Generally, neonatal myasthenia gravis is temporary and the child's

symptoms usually disappear within two to three months after birth. Rarely, children of a healthy mother may develop congenital

myasthenia. This is not an autoimmune disorder (it is caused by defective genes that produce abnormal proteins in the

neuromuscular junction) and can cause similar symptoms to myasthenia gravis.

How is myasthenia gravis diagnosed?

A doctor may perform or order several tests to confirm the diagnosis, including:

• A physical and neurological examination. A physician will first review an individual’s medical history and conduct a

physical examination. In a neurological examination, the physician will check muscle strength and tone, coordination, sense

of touch, and look for impairment of eye movements.

• An edrophonium test. This test uses injections of edrophonium chloride to briefly relieve weakness in people with

myasthenia gravis. The drug blocks the breakdown of acetylcholine and temporarily increases the levels of acetylcholine at

the neuromuscular junction. It is usually used to test ocular muscle weakness.

• A blood test. Most individuals with myasthenia gravis have abnormally elevated levels of acetylcholine receptor antibodies.

A second antibody—called the anti-MuSK antibody—has been found in about half of individuals with myasthenia gravis

who do not have acetylcholine receptor antibodies. A blood test can also detect this antibody. However, in some individuals

with myasthenia gravis, neither of these antibodies is present. These individuals are said to have seronegative (negative

antibody) myasthenia.

• Electrodiagnostics. Diagnostic tests include repetitive nerve stimulation, which repeatedly stimulates a person’s nerves

with small pulses of electricity to tire specific muscles. Muscle fibers in myasthenia gravis, as well as other neuromuscular

disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals. Single

fiber electromyography (EMG), considered the most sensitive test for myasthenia gravis, detects impaired nerve-to-muscle

transmission. EMG can be very helpful in diagnosing mild cases of myasthenia gravis when other tests fail to demonstrate


• Diagnostic imaging. Diagnostic imaging of the chest using computed tomography (CT) or magnetic resonance imaging

(MRI) may identify the presence of a thymoma.

• Pulmonary function testing. Measuring breathing strength can help predict if respiration may fail and lead to a myasthenic


Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or

delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is

restricted to only a few muscles.

What is a myasthenic crisis?

A myasthenic crisis is a medical emergency that occurs when the muscles that control breathing weaken to the point where

individuals require a ventilator to help them breathe.

Approximately 15 to 20 percent of people with myasthenia gravis experience at least one myasthenic crisis. This condition

usually requires immediate medical attention and may be triggered by infection, stress, surgery, or an adverse reaction to

medication. However, up to one-half of people may have no obvious cause for their myasthenic crisis. Certain medications



have been shown to cause myasthenia gravis. However, sometimes these medications may still be used if it is more important

to treat an underlying condition.

How is myasthenia gravis treated?

Today, myasthenia gravis can generally be controlled. There are several therapies available to help reduce and improve muscle


• Thymectomy. This operation to remove the thymus gland (which often is abnormal in individuals with myasthenia gravis)

can reduce symptoms and may cure some people, possibly by rebalancing the immune system. A recent NINDS-funded

study found that thymectomy is beneficial both for people with thymoma and those with no evidence of the tumors. The

clinical trial followed 126 people with myasthenia gravis and no visible thymoma and found that the surgery reduced muscle

weakness and the need for immunosuppressive drugs.

• Anticholinesterase medications. Medications to treat the disorder include anticholinesterase agents such as mestinon or

pyridostigmine, which slow the breakdown of acetylcholine at the neuromuscular junction and thereby improve

neuromuscular transmission and increase muscle strength.

• Immunosuppressive drugs. These drugs improve muscle strength by suppressing the production of abnormal antibodies.

They include prednisone, azathioprine, mycophenolate mofetil, tacrolimus, and rituximab. The drugs can cause significant

side effects and must be carefully monitored by a physician.

• Plasmapheresis and intravenous immunoglobulin. These therapies may be options in severe cases of myasthenia gravis.

Individuals can have antibodies in their plasma (a liquid component in blood) that attack the neuromuscular junction. These

treatments remove the destructive antibodies, although their effectiveness usually only lasts for a few weeks to months.

o Plasmapheresis is a procedure using a machine to remove harmful antibodies in plasma and replace them with good

plasma or a plasma substitute.

o Intravenous immunoglobulin is a highly concentrated injection of antibodies pooled from many healthy donors that

temporarily changes the way the immune system operates. It works by binding to the antibodies that cause myasthenia

gravis and removing them from circulation.

What is the prognosis?

With treatment, most individuals with myasthenia can significantly improve their muscle weakness and lead normal or nearly

normal lives. Sometimes the severe weakness of myasthenia gravis may cause respiratory failure, which requires immediate

emergency medical care.

Some cases of myasthenia gravis may go into remission—either temporarily or permanently—and muscle weakness may

disappear completely so that medications can be discontinued. Stable, long-lasting complete remissions are the goal of

thymectomy and may occur in about 50 percent of individuals who undergo this procedure.

What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about

the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a

component of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world.

Although there is no cure for myasthenia gravis, management of the disorder has improved over the past 30 years. There is a

greater understanding about the structure and function of the neuromuscular junction, the fundamental aspects of the thymus

gland and of autoimmunity, and the disorder itself. Technological advances have led to more timely and accurate diagnosis

of myasthenia gravis and new and enhanced therapies have improved treatment options. Researchers are working to develop

better medications, identify new ways to diagnose and treat individuals, and improve treatment options.


Some people with myasthenia gravis do not respond favorably to available treatment options, which usually include long-term

suppression of the immune system. New drugs are being tested, either alone or in combination with existing drug therapies,

to see if they are effective in treating the disease.

Studies are investigating the use of therapy targeting the B cells that make antibodies (rituximab) or the process by which

acetylcholine antibodies injure the neuromuscular junction (eculizumab). The drugs have shown promise in initial clinical




Diagnostics and biomarkers

In addition to developing new medications, researchers are trying to find better ways to diagnose and treat this disorder. For

example, NINDS-funded researchers are exploring the assembly and function of connections between nerves and muscle

fibers to understand the fundamental processes in neuromuscular development. This research could reveal new therapies for

neuromuscular diseases like myasthenia gravis.

Researchers are also exploring better ways to treat myasthenia gravis by developing new tools to diagnose people with

undetectable antibodies and identify potential biomarkers (signs that can help diagnose or measure the progression of a

disease) to predict an individual’s response to immunosuppressive drugs.

New treatment options

Findings from a recent NINDS-supported study yielded conclusive evidence about the benefits of surgery for individuals

without thymoma, a subject that had been debated for decades. Researchers hope that this trial will become a model for

rigorously testing other treatment options, and that other studies will continue to examine different therapies to see if they are

superior to standard care options.

Article online at:


Your support means hope

The Muscular Dystrophy Foundation of South Africa is a

registered non-profit organisation which supports people

affected by muscular dystrophy and neuro-muscular

disorders. We assist affected persons and their families by

providing access to international information, workshops,

support groups, access to genetic counselling, referrals to

health facilities and providing assistive devices.

The term muscular dystrophy (MD) describes a disorder

that affects the muscles, resulting in progressive wasting and

weakness of the muscle. Symptoms may appear at birth, in

early childhood, or later in life. Individuals of either sex, all

ages and ethnic backgrounds can be affected by MD.

Contact us for further information:



Tel: 011 472-9703




(Gauteng, Free State, Mpumalanga, Limpopo & North West)

Tel: 011 472-9824

S wedocare

medical care products


Every year, August has a focus on Spinal

Muscular Atrophy or SMA

By Independent Living

Here is a quick overview of key information about the


What is Spinal Muscular Atrophy?

There are actually four different types of SMA, which vary

quite considerably.

In all cases, though, the condition is genetically inherited,

and causes progressive loss of movement and increasing

weakness, as a result of muscle wasting.

The condition can affect the ability to walk, as well as

movement of the arm and hand, head and neck, breathing

and swallowing.

A fault in the gene called Survival Motor Neuron 1 (SMN1)

causes spinal muscular atrophy. This gene carries the

information that is required for producing a protein called

Survival Motor Neuron (SMN) protein. Without this

protein, the nerve cells that help to control the muscles for

moving and breathing become damaged.

How do you get SMA?

You need to have a faulty SMN1 gene from both parents in

order to have spinal muscular atrophy, as it is a recessive


About one in 50 people carries the faulty gene – around 1

million to 1.5 million people in Britain.

Children born to two SMA carriers have a one in four

chance of developing the condition, and a one in two chance

of being a carrier themselves.

The four main types of SMA

Spinal muscular atrophy Type 1 is the most severe, and

symptoms appear very early in life. Children with this type

of SMA are not able to sit unaided and, without intervention,

rarely survive their second birthday.

SMA Type 2 starts to manifest itself in the first year or so.

It is a condition that causes serious physical disability, and

children with that cannot stand without help.

Improvements in understanding and care have led to a

situation where most people with SMA type 2 can expect

to have a productive and fulfilling life, even though the

condition may shorten life expectancy.

SMA Type 3 starts to show symptoms in early childhood,

and is less disabling than spinal muscular atrophy types 1

and 2. Children diagnosed with this type of SMA find their

ability to walk decreasing with time, but they have normal

life expectancy.

SMA Type 4 develops in adulthood, and it is not


How many people are affected by SMA?

This is a rare condition. Worldwide, it affects one in every

6,000 – 10,000 babies.

Treatment of SMA

There isn’t a cure, yet, though a great deal of research is

going on. Meanwhile, the options available which aim to

manage symptoms, reduce complications and maintain

quality-of-life have been compiled into internationally

agreed Standards of Care for SMA.

In the UK particularly, extensive research into the

genetics of SMA has led to some breakthroughs in

developing treatments for the genetic fault that limits the

production of SMN protein.

Nusinersen, tradename Spinraza

Nusinersen is a new potential treatment for SMA, which

targets the SMN2 gene to produce more SMN protein. It

was developed by pharmaceutical companies Ionis and

Biogen, and there have been clinical trials with children

affected by SMA Types 1, 2 and 3.

Following these trials, earlier this summer the European

Commission approved nusinersen as a treatment for SMA

Types 1, 2, 3 and 4.



In the UK, this treatment can only be accessed through the

so-called Expanded Access Programme (EAP). It is only

available to children with SMA Type 1.

Whether there is wider availability in the future depends on

NICE (National Institute for Health and Care Excellence),

the Scottish Medicines Consortium, and other devolved

health authorities approving it for NHS funding.

Article online at:



Muscle Riders Appreciation Function

The annual Appreciation Function for the Muscle Riders

was held at Crawford College Lonehill on 17 November

2018. Muscle Riders gathered to collect their goody bags,

cycle jerseys and the all-important race packs.

Our little heroes who took part in the Kiddies Ride

in 2018 were also there to receive their Muscle

Riders teddy bears and certificates!

The day was very well attended and everyone enjoyed the

atmosphere. We would like to thank all those in attendance

and to everyone who contributed towards making the day

a huge success!



Muscular Dystrophy Awareness

Day at Kabouterland!

By Veronica Van Staden

Tiaan van Staden is a young boy affected by Duchenne Muscular Dystrophy.

On Rear Diseases day, the 28th of February 2019, Tiaan’s sister, Mia, created awareness about Muscular

Dystrophy at her School Kabouterland which is situated in Middelburg, Mpumalanga.

The Headmaster of Kabouterland, Mrs Sanet Van Rensburg, said that "They are privileged to help in any

way and are holding the families affected with this disease in their prayers”.

The Van Staden family wishes to thank each and every person who creates awareness about Muscular

Dystrophy and Rare Disease Day each year! A special thank you to Mia’s teacher, Mrs Ilze Smit, for her

kind heart and the beautiful photos. Your love and support means the world to the parents of each child




Making the most of life for us is turning out not to be

trips to Disneyland or rides in chinook helicopters

but enabling Tom to walk his dog, still visit the

allotment with his grandad, go fishing with his dad

and play outside with his sister. The simple things.

Living in the moment takes on a different resonance

when your child has a progressive, life-limiting

condition. We know we should make the most

of each day, stop and smell the roses with our

children, as Duchenne forces them to slow, and live

a life full of love and laughter. But in reality, this is

just the time that life gets harder, when housing

adaptations, care plans, hospital appointments,

drug trials (if we are lucky) and increasingly

divergent needs of siblings overwhelm us and

threaten to obliterate our patience.

Over the past year Duchenne has wreaked its

damage and our son Tom has lost a lot of function.

We have tried hard to find ways to keep Tom happy,

socially included and resilient and wanted to share

what has helped us.


in the Moment

The dog! After a disastrous start with an

assistance dog from a charity that had to be returned,

we bought Lily the Labrador when she was 6 months

old and found an amazing dog trainer who agreed

to train her specifically to meet Tom’s current and

future needs. Unprompted, Tom’s Cub pack kindly

raised money to help fund this training. The past 8

months have been extremely challenging as Lily has

knocked my daughter Amy over and broken her foot,

chewed shoes, clothes and carpets, chased horses,

jumped our fence and devoured the whole contents

of a strangers barbecue! But during training she is

faultless and the happiness and purpose she has

brought to Tom’s life has been remarkable. The

arrival of the manual wheelchair has been eased by

training Lily to walk alongside it without biting the

wheels, stiff legs at night have been soothed by the

warmth of Lily’s body as she sleeps next to Tom,

and feeding and grooming her have given Tom

responsibility. In time Lily will accompany Tom into

school, shops and hospital as his assistance dog

and remain steadfastly by his side.

The hospice. The first time I visited our local

children’s hospice last year, the tears streamed

and did not stop, but I have come to learn that

hospices offer a variety of support services that can

really help all family members. We now go as a

family to use the hydropool and also access community

respite which means that once a month a

wonderful, fun person comes to our house to play

with Tom and Amy or take them out on a trip.

Listening to our needs, the hospice has also set up

a support group for 4 Duchenne boys of a similar

age to go and play and talk together under the

supervision of a counsellor qualified in play


The off-road wheelchair. Watching Tom lose function and

struggle has for me at times been unbearable. The moment I realised

he could no longer easily access a beach, fishing lake, woodland

and our road, I knew we had to act. Turned down by most of the

wheelchair charities for an off-road model, we set up a Go Fund

Me page and after clothes sales, a ball and hugely generous

donations by friends, family and strangers alike, we bought Tom his

mean, cool, orange terrain hopper. Making the most of life for us is

turning out not to be trips to Disneyland or rides in chinook

helicopters (although this is scheduled for the summer thanks to

the Make a Wish Foundation) but enabling Tom to walk his dog, still

visit the allotment with his grandad, go fishing with his dad and play

outside with his sister. The simple things.


This entry was posted by Duchenne UK .


A Day in the Life

of a Person with MG



What is the first thing you do when you

wake up?

You might have answered, “I take a shower” or “I

drink coffee.” However, the first thing everyone

does when waking up is to open the eyes. It is a

movement so simple that most of us take it for granted

— until the ability to do so has been compromised.

For someone living with myasthenia gravis, even

opening our eyes prior to taking the right medicine is

a massive struggle. Sometimes, even when we can

open our eyes, we have double or blurry vision. This

is because MG causes muscle weakness, which

includes the muscles in our eyes. Being unable to see

clearly, despite our best efforts to squint or move

closer to a specific object, can be demotivating at


As I have said in a previous column, MG

teaches us patience. With rest, our symptoms

can improve (although improvement does not

necessarily mean they disappear.) Luckily, I have

found other remedies. Applying ice packs to my

eyes or wearing an eye patch (if only one eye is

affected) may help.

The next part of the day is getting out of bed.

This also is difficult for someone living with MG,

as we might suffer from generalized weakness

as well. This means that all the muscles we can

willingly control may be affected. This includes

arms, legs, the neck, and others. Having weak

arms and a weak core makes getting up from a

lying position much more difficult. Think about how

a healthy person would move if they had weights

attached to their limbs; it would be slow and

laborious. That is what moving with MG feels like.

Eventually, we have to eat. This activity may also be

influenced by MG. As I take my first bite, my arms

feel heavy while I lift the spoon, and my lips struggle

to stay closed. Sometimes this causes food to spill

from my mouth or my spoon. Eventually, I try to chew,

but with every bite, I feel my cheeks and tongue

becoming more tired. This sometimes leads to

choking and violent coughing, which are both


As I swallow, I may experience food getting

stuck in my throat because my muscles are

too weak to force it down. I have found that

adjusting my diet helps most with these

symptoms. I try to avoid hard-to-chew foods like

beef jerky and excessive helpings of cooked meat.

I have swapped my porridge in the morning with

yogurt, and I try to eat only after I have taken my

first Mestinon (pyridostigmine) tablet for the day.

Then, I have to walk down the stairs from my

apartment to my car. The figurative weights on my

legs seem to get heavier with each step, and by the

time I reach the bottom I am gasping for air. This is

because the diaphragm, the muscle that helps to

exhale, is also affected by MG. Not only is seeing,

moving, and eating difficult, but breathing is, too!

This is the reality of living with MG. Activities we are

required to do daily become strenuous tasks that can

leave us exhausted before the day has even started.

Luckily, MG does not affect the functioning of

our brains. We are always in control of how we

choose to respond to these symptoms. That

does not mean that there aren’t days when we

are overwhelmed by all these symptoms. It simply

means that we can control our thoughts. How

our friends and family react to our symptoms

also can affect how we perceive them. Support is

a pivotal part of managing any chronic illness.

Never forget that life is beautiful. Always keep fighting.

This entry was posted on 11 January 2019 by Retha

De Wet in A Good Life with Bad Muscles - A column

by Retha De Wet.






Living Independently With CMT Requires Creative

Thinking — and a Few Handy Gadgets

At 22, when I graduated from college, I, like so many

of my fellow millennials, moved back home. I spent

two transitional years in the room where I’d grown

up, unicorn wallpaper still casting magic above the

bed, and then, one weekend, I packed my clothes and

moved out.

I’d lived alone in my college town, but my first

apartment in Omaha, my hometown, was the first

apartment for which I bought new furniture (a loveseat

and a bed — the books and the stereo got plunked on

the floor). My boss at the time gave me a round wood

table and chairs and a mid-century modern armchair

I put in my ramshackle bedroom. The closet was a

mess of saddle shoes and skirts and handbags, I

survived on cereal and Diet Coke, and I was doing the

thing, finally, without a safety net.

I’ve lived in six apartments in Omaha now — three

on my own, the fourth with a boyfriend, and two more

on my own after him. The most recent became home

just this July, and it’s my favorite of them all — high

ceilings, a sunny balcony, a westward view of

Nebraska’s nightly showstopper sunsets. The

furniture matches. Things live properly on bookcases

and shelves. There’s art made by my friends on the

walls of every room.


In my dozen years of living independently, I’ve learned

how to keep things tidy (a minimalist approach goes

far). I’ve learned how to cook. I can host a nice

little party. I learned, after a doubtful beginning,

domesticity. I’ve also become less able to manage it.

In the reverse universe that is living with a

neuromuscular disease, as my skill set grew, my

ability shrank. I can make a fantastic vegetarian,

gluten-free shepherd’s pie — just not on my own.

Three sets of sheets is indeed the exact right

number to have for each bed in the house — but I

can’t smooth them out, or even fold them, anymore,

neatly for the drawer.

This year, 17 years after my Charcot-Marie-Tooth

disease (CMT) diagnosis, I use a walker full-time,

meaning I don’t cheat anymore hugging the wall from

the bedroom to the bathroom — I use the walker

now. My new apartment is bigger, but that means it

has fewer easy handholds and supports. Space has

forced me to lean, finally, on all of my support.

I have an assistant who comes weekly to help with

chores and errands, but most of the time, I’m by

myself, working at my desk, cooking in the kitchen,

reading on the balcony.

I can do things. I can do the thing — independent

living — but it’s taken some creative thinking. The first

time I saw my new apartment, I knew I couldn’t live

in it without finding a solution for the shower. It’s a

standing design, but an internal built-in bench doesn’t

come close enough to the shower’s edge for me to

use it as an entry and exit point. Because foot drop

prevents me from stepping over the low ledge at the

shower’s base, I need a seat on which to pivot in and




so I’ve started putting a trivet on my walker’s seat to

make the transfer from stovetop to elsewhere. Years

ago, my mom gave me a long wooden kitchen ruler

with a hook at one end designed to pull out a hot

oven rack; that hook has come in handy pulling down

rolls of paper towels from cabinets or chasing bits

of dried pasta that roll into corners. And utilizing a

tip from my grandmother, who lives with advanced

arthritis, tongs can pick up bits and bobs off the floor,

too — and, when they’re soft and silicone-tipped, can

gently retrieve an egg from a carton.

I automate as much as I can — electric can and wine

openers and stand-mixers are crucial. I have a

multi-piece chopper/food processor/blender that

works with a simple motor that fits on top and has just

one big power button to press. Lights and the stereo

are connected to an Amazon Echo that lets me settle

in, shoes off, without having to get up for much.

In this, I got lucky. My dad is a retired architect. He

called a contractor friend, sent a few photos of my

shower and a few sketched thoughts along, and

together we designed a custom-made shower bench

of sturdy, water-resistant materials that safely solved

the problem of egress. I also looped in my apartment

building’s head of maintenance, Rex, to add a

grab bar that was thinner than standard bars — my

hand contractures don’t allow for a wide grip. Patient

and even more creative than I when it came down to

what Menard’s was stocking, Rex delivered a slim

industrial bar that is, I gotta say, the coolest assistive

bar in the Middle West.

Reach and grip have become tricky business in other

rooms. My kitchen is just a little too wide to turn in

when one’s got bad balance and a hot pan in hand,

It’s true that I don’t, anymore, make elaborate

dinners. My parties now are all of the cocktail-andsnacks

variety. I vacuum from a chair, and not often.

I ask for a lot more help. I’m a little embarrassed to

admit the thing about the tongs.

But what I’m saying is, I’m here. I’m figuring out how

to be here. There aren’t solutions for every problem,

but there is that.

There are ways, if you’re open to them, to be just

you, at home, and pretty comfortable at that.

Article posted online by the Muscular Dystrophy

Association, 20 September 2018, at: https://




Right on


Shooting highlights:

Tracey has achieved an extraordinary level of

success in her chosen sport, 10 metre air rifle target

shooting. In 2014, she talked to us about how the

sport helps her to travel around Australia and meet

different people and helps others to see past her


Winning a bronze medal in my first interstate

competition in Sydney last year competing against

Olympic champions; Becoming Queensland State

Champion in late 2013 and achieving 3 personal

bests and 2 bronze medals at the International

Grand Prix Sydney in February this year. I also love

it when strangers approach you at the airport to ask

about your medals (which I always wear home…if

you’ve got them, why not show them to the world)

and ask if they can have a photo with you to show

their family. Now I would have to say that’s pretty


How did you first get involved in shooting?

I have always had a secret love for guns, big ones or

small, anything with fire power. I had only ever shot

one rifle in my life before this and loved it. So when

Muscular Dystrophy Queensland sent me a notice

for a “come and try” weekend at Belmont Shooting

Range last year I accepted with much excitement

and anticipation. I had set my mind on shooting

pistols however when I got to try one I found it

way too heavy for me. I was devastated because

I so badly wanted to shoot. The assistant Olympic

Coach was there on the day and asked me if I would

like to try shooting a rifle. I was given a stand to rest

the rifle on and fired off half a dozen shots. To my

amazement my grouping (shooters talk) was very

good, enough to impress the Olympic Coach. He

asked me if I would be interested in coming back

and getting involved in shooting as a competitive

sport and well the rest is history. I haven’t stopped

since that day and I love it so much.



Why do you love shooting?

Whether it’s for fun or in competitions, club shoots

or interstate this is the best thing I have ever done. I

thought my calling was in drag racing (another story

in another life) now I would have to say shooting is

my calling, fancy finding this out so late in life – not

that I’m old! I just mean with my inability to do things

as well anymore, I find shooting and I’m rather good

at it. Not to mention I LOVE IT. Shooting has opened

a door for me to enjoy myself with people that have

a love for the same thing as me. Other people see

me as just another person and not the disabled

person in a chair. I find shooting a way to de-stress

and even though competitions are stressful, when I

shoot I’m in my own little world and I find it relaxing

and yet very exciting at the same time. I can’t wait

to get to training every week and wish I could do it


uniform expenses. There are other grants out there

and I’m always on the look out for them. At the

beginning of the year I sat down and worked out

my schedule and estimated costs then I went

looking for grants etc. and put together a budget for

the year. It’s always good to be prepared.

Article posted online by Muscular Dystrophy

Queensland, at:

Observations and obstacles:

Since getting the chance to travel around

Australia, something I haven’t done much of in my

life, I have found flying really easy. The airlines are

very good when it comes to people like us (special),

you just have to ask and so far I haven’t had a

problem. Now, finding accommodation, well that’s

not so easy. When you’re looking for a room always

call and ask for photos – especially of the bathroom

because some places haven’t got a clue.

You’re probably wondering how I manage funding

my travel on a pension. I am always looking for

grants to help in any way. Last year I received a

grant for my shooting jacket from Sporting Dreams

Foundation. I am also a member of the Sporting

Wheelies Association who help with travel and

The WCCS UJ Chapter held their

annual golf day at the Benoni

Country Club on 13 March 2019.

A portion of the proceeds will be

donated to MDF Gauteng. We wish

to thank all those in attendance for

their amazing support!


Pieter Joubert was the long-time General Manager

of the Gauteng Branch of the Muscular Dystrophy

Foundation of South Africa (MDF). Pieter himself

was affected by facioscapulohumeral muscular

dystrophy (FSHD).

As a result of this, Pieter had been in a wheelchair

for more than a decade; however, this did not stop

him from dedicating a large portion of his remarkable

life to the MDF and the service of its members

for more than 20 years.

Pieter experienced an unfortunate health setback

during the week of 12 November 2018 and was admitted

to the Life Flora Clinic ICU. After a long fight

he unfortunately passed away on 3 January 2019.

Pieter’s history with the foundation stretches as far

back as 1995 when the MDF consisted only of a

national office to represent the entire country. He

was consistently involved with the MDF over the

years, playing a pivotal role in establishing the

Gauteng office as well as serving on its committee.

MDF Gauteng Branch took the bold move to create

a position for a General Manager, a position Pieter

filled with pride and tremendous success. He became

very well known amongst the members of the

MDF, not just in Gauteng but across the country.

In 2008, MDF Gauteng was well established and

under Pieter’s leadership started implementing a

In memory


Pieter Joubert

strategic growth strategy to expand the services

of the branch. They took the bold move to submit

a business plan and motivations to the National

Lotteries Board (Lotto) for funding to buy a

property. Lotto did not adjudicate this application

until early 2010 when they announced that not just the

funding to the purchase of the property was approved,

but also funding for the full refurbishment and

conversion of the property.

MDF Gauteng took ownership of a suitable

property situated on Ontdekkers Road, Roodepoort

in January 2011 where Pieter immediately

undertook the demanding task of the refurbishment

project to ensure that the building provided not only

suitable offices for the Gauteng Branch and the MDF

National Office but also full accessibility for people

with disabilities. This office became the centre hub

of the MDF and is now well known and established

among the MDF and members and the community

in which it is located.

Throughout this time, Pieter served as vice

chairperson on the Gauteng executive

committee and as a member on the national executive

committee, ensuring the implementation of the

organisation goals and objectives. With the

significant growth that was experienced, the MDF

Gauteng Branch decided to create a position for a

general manager, a salaried employee, which was

made financially possible only due to Pieter’s hard

work, fundraising efforts and complete dedication.

The committee encouraged Pieter to apply for the

position and he became the very first general

manager of the MDF Gauteng Branch, a position he

filled with pride and incredible success.

With competent salaried employees, a well-established

location and respected brand, the MDF

Gauteng Branch grew from strength to strength and

was able to increase the fulfilment of its obligations,

and in line with the branch’s strategic goals, Pieter

employed the first permanent social worker in order

to reach out to the members in Gauteng at home,

establish support groups and bring in new affected


The appointment of the social worker increased

the branch’s line of sight to our members and



Pieter soon realised that it was essential to increase

this service to reach more members. With this

knowledge, Pieter provided reasons and

successfully applied to the Department of Social

Development (DSD) for a social worker grant, which

enabled the branch to employ more social workers

and candidate social workers. This placed four

social workers on the ground, and with Pieter’s

meticulous attention to detail and fanatical reporting

back to the DSD, the grant was renewed annually

for the last five years.

Pieter was a very competent manager, which

stemmed from his extensive employment

history and qualifications, and he was always very

sensitive to the financial challenges any non-profit

organisation (NPO) faces in South Africa.

He always managed the branch’s finances with care

and respect to the donors that funded the organisation,

and always fulfilled a fundamental basic

principle of acknowledging and thanking even the

smallest donor, whether in money, materials or time.

He simply believed in building sound relationships

with all stakeholders, based at all times on sincere

respect and dignity.

For that reason Pieter built up a long list of

donors, who donated to the MDF on a regular basis,

simply because of the trust that he instilled in

people, who knew that the funding was managed in a

responsible way and was applied appropriately to

the needs of the MDF.

He built up significant networks across the

boundaries of organisations to other NPOs,

companies, service providers and the like, and many

of his successes can be credited to this consistent

interest and passion for the cause which he worked

for, all the time with respect and dignity to all.

Seasoned committee members for many years

would contact him and obtain advice and guidance.

He was truly a doyen in the world of NPOs which

is very much because of his love for the organisation

and the members he served. For many of our

members, the MDF was Pieter, and Pieter was the



However, Pieter was a lot more than his work with

the MDF. He was a husband, father and friend to

many people. Those who had the privilege of having

him in their lives will always remember him fondly.

Robert Scott, who worked alongside Pieter at the

MDF, said: “I will always remember him as more

than a colleague, he was my friend and I will miss

him a great deal.”

Win van der Berg, Chairperson of the Cape Branch

committee, had the following to share: “Pieter will

always hold a special and dear place in my heart.

In the early years we worked closely together when

things were really difficult to manage and we were

feeling our way along in pursuit of providing support

and equipment to our Muscular Dystrophy friends.”

She added: “He was a brilliant friend whom I could

call on whenever I needed someone to sound off on

any new ideas or thoughts. In times of trouble he

was by my side always ready to commiserate and

cheer me up. In good times we shared in the spirit

of achievement. He far outpassed me in matters of

fundraising for the Gauteng Branch. A fact I'm still in

awe of today. The branch was so lucky to have such

an exceptional person within their ranks. It's always

too soon to say goodbye especially to such a very

dear and special friend.”

Gerda Brown, General Manager of the National

Office, remembers Pieter fondly and had the

following words to say: “It is so difficult to write

something about Pieter because how do you

capture his spirit in words. He had such a big

spirit. He had such a big personality. My journey

with Pieter began when I joined the Muscular

Dystrophy Foundation, first as a committee member

for the Gauteng Branch and later as a colleague and

friend. I have learned so much from him. He had

vast knowledge about muscular dystrophy and was

loved by everyone who crossed his path. The MDF

house is empty without him.”

Lee Leith of the MDF executive committee had the

following to say when remembering Pieter: “I have

a smile on my face when I remember Pieter’s bright

eyes, wide smile and ready laugh. He had such

wonderful characteristics. He was a man of few

words but those words meant so much to fellow

colleagues as he had such a wise way of

simplifying problems. He was a good friend to

see each year when those of us who lived far

away, like Cape Town, would meet for our annual

general meeting and strategy planning. Recently our

meetings have been held via Skype and we would

exclaim, ‘Good, there is Pieter in the front row!’

Often a phone call to him gave reassurance to those

who were affected by this disorder, through his own

experience of the disease. He gave confidence to

those who shared the challenge of working with the

Muscular Dystrophy Foundation. Thank you Pieter,

we will miss you.”

Christo Dippenaar, MDF member, said: “I believe

you can find some peace in the words that Pieter is

in a better place than us, where there is no pain. In

1 Thes. 4;13 Paul said, “We grieve not as those who

have no hope”. In other words, we’ll meet again in


All those who knew Pieter had the same blessing in

that he affected their lives in a positive way. He will

be deeply missed and never forgotten.




Top 10 Muscular Dystrophy Articles of 2018

By Jose Marques Lopes, PHD

Throughout 2018, Muscular Dystrophy News Today

provided daily coverage of new therapeutic strategies,

clinical trials, and other topics related to muscular dystrophy


As we look forward to reporting more news to patients,

family members, and caregivers dealing with MD in 2019,

here are the Top 10 most-read articles of 2018, with a brief

description of their relevance to the MD community.

No. 10 – “Acceleron’s ACE-083 Therapy Candidate

for FSHD Earns FDA’s Fast Track Designation”

An investigational treatment for facioscapulohumeral

muscular dystrophy (FSHD) called ACE-083 was

granted fast track designation by the U.S. Food and Drug

Administration. ACE-083 is a locally-acting compound

that inhibits proteins in the TGF-beta family, such as

myostatin. This action is intended to increase muscle strength

in FSHD patients, who have skeletal muscle weakness and

loss. The designation aims to accelerate the development of

promising therapies for conditions with serious unmet needs.

It was based on the positive results of the first part of a Phase

2 clinical trial (NCT02927080; see No. 3 on this list).

No. 9 – “Family’s Quest for ‘Overlooked’

Duchenne Treatments Leads to Breast Cancer

Medicine Tamoxifen”

In August, we published a story on the use of the breast

cancer therapy – tamoxifen – to treat Duchenne MD (DMD).

Tamoxifen is a selective estrogen receptor modulator

hormonal therapy that, when used with Evista

(raloxifene), improved cardiac, respiratory and skeletal muscle

functions, and increased bone density in a mouse model of

the disease. Our article focused on Gavin Ward, an 8-yearold

boy who was one of the first DMD patients in the U.S. to

receive tamoxifen. He started this treatment six weeks after

diagnosis. His father, Bruce, said Gavin’s hand grip

strength and exercise capacity markedly improved with the

therapy, and he also grew 2 inches and gained 9 pounds.

His pediatrician, Vikki A. Stefans, MD, said that, unlike

steroids, the chances for significant side effects with

tamoxifen in males are not high. Two studies are being

conducted to evaluate tamoxifen in DMD, one of which

is a Phase 3 trial (NCT03354039) that is still recruiting

participants in Germany and Switzerland.

No. 8 – “Givinostat Phase 3 Trial Recruiting

Duchenne Patients in North America, Europe”

Givinostat is an investigational therapy intended to boost

muscle regeneration in DMD patients. A multicenter,

international Phase 3 trial (NCT02851797) on this

treatment by Italfarmaco is enrolling boys older than 6 years.

Givinostat’s ability to slow disease progression will be

evaluated, measured by a change in the time taken to climb four

stairs after 18 months of treatment. Other functional tests will

be conducted, and muscle tissue will be analyzed by imaging.

Givinostat is an inhibitor of enzymes called histone

deacetylases (HDACs), which changes the 3D folding of

DNA. Patients with DMD have higher-than-normal HDAC

levels, which may prevent muscle regeneration and proper

muscle contraction. An earlier Phase 2 trial (NCT01761292)

showed that one-year treatment in boys ages 7-11 slowed

their disease progression, among other benefits.

No. 7 – “New CRISPR Strategy Corrects Wider

Range of Mutations Responsible for DMD”

A gene editing strategy based on the CRISPR-Cas9

technology restored dystrophin production and contraction

force in heart muscle cells of DMD patients. The new

approach, called myoediting, targets the top 12 “hot spots”

of mutations along the DMD gene so that a wide region

of these hot spots is skipped from the final dystrophin

protein. The team from the U.S. and Germany found that

editing only 30-50% of heart muscle cells was sufficient to

restore their cardiac function to near-normal levels. Exonics

Therapeutics has licensed the new method, aiming to

develop it for DMD and other neuromuscular disorders.



No. 6 – “UT Researcher, with Cure Duchenne

Support, Launches Company to Treat DMD Using

CRISPR/Cas9 Technology”

In April, we reported the launch of Exonics, which resulted

from a collaboration between Eric Olson – a scientist with

a long career in muscle biology and the director of UT

Southwestern’s Hamon Center for Regenerative

Science and Medicine in Dallas – and the nonprofit group

CureDuchenne. The new company is using the

SingleCut CRISPR-Cas9 technology aiming to correct up to 80

percent of the 3,000 mutations that cause DMD. “We are

really encouraged about the data suggesting this can be a

life-changing therapy for patients who need it,” Olson

said. Olson’s work had been supported by Parent Project

Muscular Dystrophy (PPMD), a nonprofit group. The

scientists will assess the method’s safety, whether it

generates an immune response, and also if the benefits are

stable. “We believe it will be, particularly in the heart,”

Olson said.

No. 5 – “Sarepta’s Gene Therapy Improves

Muscle Function in 4 Boys with DMD, Phase 1/2

Trial Shows”

Four boys with DMD treated with a single dose of Sarepta

Therapeutics’ intravenous gene therapy in an ongoing Phase

1/2 trial (NCT03375164; see No. 4 and No. 1) showed

improvements in all four functional parameters tested –

such as time to rise and the four-stair climb test – as well

as a pronounced increase in dystrophin production in their

muscles. The potential treatment, called AAVrh74.MHCK7.

micro-dystrophin, delivers a version of the DMD gene that

is shorter but still able to restore dystrophin’s function. It

specifically targets muscle tissue, in particular the heart

muscle. The four boys also showed a marked decrease (more

than 78%) of blood levels of creatine kinase, a marker of

muscle inflammation. No serious adverse events were

reported. The company plans to start a confirmation trial,

which, if successful, may make the new therapy available

for DMD patients.

No. 4 – “Microdystrophin Gene Therapy Shows

Promising Interim Results in Phase 1/2 Trial”

Our No. 4 article of 2018 covered preliminary findings of the

Phase 1/2 trial of Sarepta’s DMD gene therapy, developed

by scientists at Nationwide Children’s Hospital (see No. 5

and No. 1). The study’s design included two groups – one

with have infants and toddlers ages 3 months to 3 years, and

the second with children 4 to 7 years old. Muscle biopsy at

three months revealed that the first three boys treated (ages

4-7) had robust (76.2%) microdystrophin gene expression

in muscle tissue. As found later in the trial (see No. 5), all

three patients showed a significant decrease in blood levels

of creatine kinase, suggesting effective muscle protection.

No. 3 – “Acceleron Therapy Increases

Facioscapulohumeral Dystrophy Patients’ Muscle

Mass, Trial Shows”

Besides its fast track designation described in No. 10 of

this list, the Phase 2 results of Acceleron’s ACE-043 also

received significant interest from our readers in 2018. The

main goals of the dose-escalation study (NCT02927080)

were to see if the FSHD treatment candidate was safe

and if it increased the patients’ muscle mass. Preliminary

results from 23 patients revealed that injecting ACE-083 once

every three weeks into the lower leg’s tibialis anterior and the

upper arm’s biceps brachii increased muscle mass by

12.6% and 13.2%, respectively. An associated decrease in

muscle fat was also observed. No serious adverse effects were


No. 2 – “Pfizer Launches Phase 1b Clinical Trial for

Mini-Dystrophin Gene Therapy to Treat DMD”

The start of Pfizer’s ascending dose Phase 1b trial

(NCT03362502) of an investigational mini-dystrophin

gene therapy was the second most-read article of 2018.

PF-0693992 is a shortened version of the DMD gene,

which uses a carrier – the adeno-associated virus serotype 9

capsid – known for its ability to specifically target the

muscles. Twelve boys ages 5-12 years were included. The

first patient received the intravenous therapy on March

22. The scientists will assess the therapy’s safety and

tolerability, dystrophin’s expression and distribution, and

muscle function and strength. Results are expected in the

first half of 2019, when all patients will have completed one

year of treatment.

No. 1 – “Young Boy Becomes First DMD Patient to

Receive Investigational Systemic Microdystrophin

Gene Therapy”

Our most-read article of 2018 reported the start of the Phase

1/2 trial (NCT03375164) testing Sarepta’s microdystrophin

gene therapy for DMD patients (see No. 4 and No. 5).

Besides muscle biopsies at baseline (the beginning of the

trial) and three months of treatment, the study design

included safety assessments up to three months after therapy

delivery. PPMD partially funded the trial through a $2.2

million grant. Other funding and support was provided by


At Muscular Dystrophy News Today, we hope these news

stories, along our reporting throughout 2019, contribute to

informing and improving the lives of everyone dealing with


Article posted online by Muscular Dystrophy News Today,

2 January 2019, at: https://musculardystrophynews.






Sex – A guide for Parents

By Robert Scott

You find yourself in the position that parents all over the

world eventually find themselves in – your child has reached

that stage in life where their sexuality is starting to rouse.

In this article we will look at different ways of dealing with

your adolescent’s sexuality as well as various strategies.

This is not a foolproof strategy but it will assist you as a

parent in managing a topic that causes many parents to feel a

little uneasy. This guide is to help you as a parent of a child

with a neuromuscular disorder.

“The talk”

The time has come to face the dreaded “talk”. This may

make you feel uneasy and you are not sure what to say. This

talk will be a little awkward whether you want it to be or

not. Your teenager will give you the characteristic eye-rolls

and you may even hear “do we really have to talk about

this?” One crucial thing to remember is that you have been

involved with your child’s sexual development all along from

when you told them about how boys and girls are different,

but as time goes on this becomes increasingly complicated

when you need to start addressing issues such as sexuality,

dating and sexual relationships.

What you need to remember is that your teen needs

answers and you are in the best position to answer them! Just

remember to be honest and answer questions as best you

can. Also, it is important to remember that this needs to be a

conversation, so do not attempt to force your child to

see things the way you do. If you keep this in mind the

conversation will be easier and constructive.


Muscular Dystrophy Canada (2013), in their booklet Let’s

talk about sex: a resource for parents, says the following:

Puberty is a critical stage in your child’s development.

Your teen’s body is maturing. However, depending on

the type of neuromuscular disorder, this physical turning

point may occur later for your child than for others of the

same age. For example, boys with Duchenne muscular

dystrophy often have plump, hairless faces, making them

look younger than their peers.

It is important to keep in mind that despite her or his

physical disability, your child is becoming an adult, a

sexual being capable of reproduction. The hormonal

development that comes with puberty happens to all

adolescents. These changes inevitably lead to an

exploration of one’s own body and the accompanying

sensations, including masturbation. This can

sometimes be more complicated for young people with

neuromuscular disorders because of a lack of

coordination, spasms, pain or muscle weakness.

If you are comfortable discussing this very intimate

subject with your teen, you should know that there are

technical aids, such as body harnesses, that can facilitate

this self-exploration.”

Sexual identity and body image

Your adolescent is reaching that stage in life where they are

adjusting to the new body image that comes with puberty and

this will involve many mixed emotions.

Your teenager will also try to exert greater independence;


however, remember to keep a balance between letting them

spread their wings and also obeying your authority and rules

as their parent.

The media will also have an impact on how they see

themselves. Muscular Dystrophy Canada (2013) elaborates

on this topic:

Teenagers often compare themselves to others while at the

same time wanting to stand out. Since children affected

with a neuromuscular discorder [sic] have significant

physical differences, they may struggle to find ways to

make themselves more attractive to others. Like all teens,

they must learn to accept their new body image as well as

the differences related to their disability. The enormous

pressure exerted by media-driven images of beauty can

create inferiority complexes, so it’s important to talk with

your teen about issues surrounding appearance and how

comfortable they are in their “own skin.”

Concerning stereotypes that your teen may face, Muscular

Dystrophy Canada (2013) elaborates as follows.

When someone does not match the typical

stereotypes of beauty, they run the risk of developing low

self-esteem, eating disorders and even depression. These

stereotypes are often reinforced by media advertising,

movies and even fairytales heard at a very young age.

You should make your child aware of the dangers of such

stereotypes and make it clear that only a very small

percentage of people actually meet these media-driven

standards of beauty. You could look at some images

together and encourage your teen to develop a critical view

of advertising, or watch the videos on the Dove website. This

way, your child will be better equipped to face stereotypes.

Your teen’s sexual orientation

Your teen will go through a stage of discovery where they

may begin to question their own sexuality. They may be attracted

to others of the same sex, opposite sex or even both

sexes, or they may not be attracted to anyone at all.

It is crucial to remember that there is nothing wrong with

how your teen feels, and during this time they may even start

to worry about rejection by their peers.

If your teen is not comfortable discussing this with you, help

them find someone they can talk to.

Relationships and online dating


Relationships can be tricky no matter what your age. This

is even more so when you are a teenager in the throes of

puberty and sexuality, with hormones running wild. You

need to tell your teen the important things such as knowing

their own limits and respecting themselves as well as others.

Muscular Dystrophy Canada (2013) also addresses the

following important factor relating to the child’s

expectations of a romantic partner:

His or her romantic partner is not a replacement

for you. If they are looking for someone who can

provide the same care and attention that you do, there

is a real risk the relationship will go awry. In love,

one should desire the other person without always

expecting to be taken care of as in a nurse/patient

relationship. Talk to your teen about her or his

expectations in a romantic relationship and the role of

each partner.

In today’s age of technology, online dating has become more

prevalent than we may care to admit. This may seem like an

even more attractive option for a teen with a neuromuscular

disorder. However, the online world can be an extremely

dangerous place and it is important to make your teen aware

of the potential dangers.

One of the most popular trends has become the sending

of nude photographs, and your teen should be told that

this is a serious no-no. Additionally they should not send

personal information that could enable a stranger to find them,

and if they ever want to meet up with someone they should

always arrange to meet in a public place and have a trusted

person accompany them to avoid any dangerous situations

that could otherwise arise.


The subject of sex needs to be approached properly with your

teen. It is important that you and your teen be aware that

penetration does not need to take place in order to have a

sexual relationship – examples are masturbation and body


A subject that needs to be looked at is that of birth control.

There are many options available that can prevent unwanted

pregnancy and the transmission sexual diseases.



The various types of birth control are listed by Muscular

Dystrophy Canada (2013) as follows:

The birth control pill, the patch and vaginal rings:

These methods prevent ovulation, thereby reducing the

risk of fertilization and pregnancy. However, they are not

recommended for your daughter with a neuromuscular

disorder because they may increase the risk of blood clots.

Depo-Provera: This is an injection given four times per

year. It is likely to stop menstrual cycles after the first year

of use, so it’s practical in terms of hygiene. It also contains

no estrogen, a hormone that can cause blood clots. On the

other hand, it’s important to note that this treatment may

reduce bone density, so your doctor might recommend a

calcium supplement. When injections stop, Depo-Provera

may remain active for another nine months and continue

to prevent fertilization.

The IUD (coil): This method is available in two

forms, with or without hormones. Like Depo-Provera,

the intra-uterine device with hormones contains only

progesterone and may therefore be a good option.

Whichever form is chosen, it works for five years.

One drawback is that it must be checked regularly to

ensure the two “arms” of the device are staying in place.

Furthermore, bleeding may occur between menstrual

periods in the first months after implantation by the doctor.

The diaphragm: This method requires a significant

amount of manipulation. A doctor’s advice is needed to

determine the correct size. When properly used, it creates

a sperm barrier. For greater effectiveness, a spermicide

should also be used.

Condoms: This is the only contraceptive available for

males. Condoms vary greatly in size, texture, colour, etc.

Most are made of latex, but people who are allergic to

latex can choose polyurethane condoms. This method

protects against some sexually-transmitted and

blood-borne infections (STBBIs). Please note that if a

lubricant is used with a condom, it must be water-based.

The female condom: This method offers the same

advantages as the male condom: it’s very effective against

STBBIs and unwanted pregnancies. A gel lubricant is

recommended for added comfort. However, installing the

female condom can be challenging and a few tries may

be necessary. The female condom is also more expensive

than its male counterpart.

The issue of abuse

It is important to remember that people with any physical

disabilities are in a vulnerable position and may be open

to sexual abuse. This is even more so in cases where the

individual requires personal care as the people providing this

care could take advantage of the situation. You should make

it clear to your child that if they experience anything that

makes them uncomfortable they should tell you immediately.

Furthermore, it is a good idea to ensure that they know the

difference between what is appropriate and what isn’t. Sexual

abuse does not have to be physical either; it can take the form

of spoken words too. It is crucial that your child know the


There are certain warning signs that you as a parent can keep

an eye out for that could be signs of abuse. These include

increased sexual urges, aggression or a complete loss of

interest in sex altogether.

Your child should be able to speak to you without any fear,

and it is important that you cultivate an environment of safety

with your child.

In the end . . .

Despite your child having a neuromuscular disorder, they

are going to go through all the changes that every child

experiences in life. What matters is how you and they deal

with it.

Whether you like it or not, they are interested in sex and

are going to want to explore. You are their parent and you

can keep them well informed and forewarned so that they

develop in a healthy way without fear of judgement.

Don’t be scared to talk to your child about sex; it really isn’t

that bad, and they may even thank you for those awkward

conversations one day!


Muscular Dystrophy Canada. 2013. Let’s talk about sex:

A resource for parents.


Prof Amanda Krause, MBBCh, PhD MB BCh,

Medical Geneticist/Associate. Professor.

Head: Division of Human Genetics.

National Health Laboratory Service (NHLS)

& The University of the Witwatersrand.

Please e-mail your questions about genetic counselling to

Are care management protocols in place in South Africa for patients

with muscular dystrophies?

Care management protocols are a team-based, patient-centred approach designed to assist patients and their support systems in

managing medical conditions more effectively. No specific protocols that are nationally approved and applicable to all patients are in

place in South Africa for patients with muscular dystrophy. Importantly, the protocols for patients with muscular dystrophies in South

Africa are similar to those for patients elsewhere in the world. Thus most treating clinicians would tend to refer to international care

protocols and follow these or adapt them. Care management protocols assist patients to get comprehensive and systematic care in a

coordinated fashion. Unfortunately, the majority of patients have relatively limited access to comprehensive care and particularly

team-based care.

What medical professionals should I enlist for my care management if I have muscular dystrophy?

There are many different muscular dystrophies, which affect individuals of all ages and to different degrees. They may also affect other

organ systems to varying degrees. All individuals should have one health professional who is primarily responsible for their care and

who coordinates their visits and assessments with those of other health professionals. The primary carer should ensure that all their

treatments and medications are coordinated and that no medications or therapies interact adversely. The primary carer would

typically be a neurologist but could be one of many types of heath care professional. People with muscular dystrophy may also require

assessment and management by other clinicians, including cardiologists, pulmonologists, orthopaedic surgeons, gastroenterologists, general

paediatricians and general physicians.

Allied health care professionals are also extremely important in the care of individuals with muscular dystrophies as they support

diagnosis, recovery, and quality of life. These include physiotherapists, occupational therapists, biokineticists, speech therapists and

dieticians, who should all work not only to assist patients to maintain strength and mobility but also to ensure that appropriate assistance

is provided for activities of daily living.

Medical geneticists and genetic counsellors are also important as they can assist not only in directing appropriate genetic testing for a

confirmation of diagnosis but also in defining risks for other family members. Genetics professionals also assist in directing appropriate

health care and ensuring that individuals have the information required to deal with their disease. Genetic counselling is the process of

helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This

process integrates the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence, education

about inheritance, testing, management, prevention, resources, research and counselling to promote informed choices and adaptation to

the risk or condition.


Are there any supplements or vitamins that should be taken if you are diagnosed with MD?

Most muscular dystrophies are genetic conditions. Thus vitamins and supplements do not usually influence the course of the disease.

However, all individuals should have a healthy diet with adequate intake of vitamins and minerals. Some individuals with MD may have

increased energy requirements, whilst others, with limited mobility, have reduced requirements.


Sandra’s thoughts on…


By Sandra Bredell (MSW)

Inspiration in English, inspirasie in Afrikaans, ugqozi

in Zulu and iphefumlelwe in Xhosa is described as

“the process of being mentally stimulated to do or feel

something” ( “Inspire” derives from

the Latin word “inspirare”, which means “to blow into”. It

makes one think of a fire and blowing air over a flame to

make it bigger (Kaufman, 2011a).

To be inspirational means to offer some upliftment to

others so that they become more motivated to be the

best that they can be. It also refers to being an example

to others and to motivate and encourage others to grow

and reach their potential (Biography Online).

Inspiration comes in many forms. Sometimes a

movie or a book can inspire or energise you to create

something, start a new project or sport or even take a

whole new direction in your career. In everyday life a lot

of pressure is directed at measuring talent and abilities.

So often inspiration is overlooked in a culture obsessed

with success and performance. Inspiration plays an

important role in opening up new opportunities and

possibilities in changing our perspective on ordinary

experiences and our limitations (Kaufman, 2011b).

Who or what is your inspiration in life? Where and how

do you get motivated and energised to keep going?

In answering these questions, what would be

characteristics of an inspirational person? They most

likely would not be selfish, they would not act out of

pride or superiority, they would have courage to do what

is right, they would stick to their principles. Inspirational

people are usually positive and happy people with a

vision of hope (Kaufman, 2011b).

It is wonderful to have places or things that inspire

you and even to have an inspirational person or role

model, but have you given enough thought to being an

inspiration to yourself and others? It all starts with you.

The 5 Second Rule by Mel Robbins states: “If you

have an instinct to act on a goal, you must physically

move within five seconds or your brain will kill it” (Chai,

2017). So the next time you get a great idea, try to count

from 5 to 1 and act. Also try to cut down the stress and

drench yourself in motivational literature and movies.

This will remind you of your intention to create or do

something towards your goal. And finally talk to the

person that knows you best... you. This type of

conversation, however, needs to be in a positive

manner. You need to affirm and remind yourself of who

you are and what you want to achieve. Let’s get inspired

to reach our goals (Chai, 2017).

Inspire yourself and you will inspire others.


Biography Online. (No date). “Inspirational definition”.


Chai, N. (2017). “The 5 best ways to motivate yourself”.

Success, 7 September.


Kaufman, S.B. (2011a). “Why inspiration matters”.

Harvard Business Review, 8 November. https://hbr.


Kaufman, S.B. (2011b). “Why inspiration matters: inspiration

impacts everything”. Psychology Today, 5 October. (No date). “Inspire”.


Cape Branch

Adult Support Group: 2018 Send-off

On 3 December 2018 we

celebrated the end of another

successful year of our adult

support group programme and

the International Day of People

with Disabilities. We all got into

the festive spirit and chatted the

morning away over coffee and

good food. A special thanks and

congratulations to everyone who

was involved in the programme

during 2018. We are very

privileged to be a part of your


Children’s Support Groups

It is with great excitement that we launched our school-based support group programmes for the year. We are so

happy to continue our partnership with Astra LSEN School, Eros LSEN School and Tembaletu LSEN School. Many

thanks to these partners for the opportunity and platform to run muscular dystrophy and Duchenne muscular dystrophy

support groups. Our incredible social auxiliary workers, Mariam Landers and Zukiswa Peza, have done a wonderful

job running these sessions during the first quarter of the year. We can't wait to see the wonderful things these

programmes will achieve during the rest of 2019.

Adult Support Group:

2019 Kick-off

February marked the beginning of our 2019 adult

support group programme. We kicked things into gear with a

Valentine's Day social. Our members had the opportunity

to reconnect after the long festive break and to share their

thoughts and ideas for the 2019 programme. Thank you to

everyone who attended this meeting. If you couldn't make it,

don't fret! We host a meeting on the first Saturday of every

month, and you are always welcome to join us.


Gauteng Branch

A day not soon forgotten . . .

It was an early morning wake-up, and while most of South Africa slept thousands of cyclists were making their

way to Riversands Commercial Park. The Muscle Riders were ready and 94.7 kilometres lay in front of them.

This day promised to be one that we would not soon forget!

Over 200 Muscle Riders approached the start line

ready for the epic ride ahead, and among them was a

young boy, Mikaeel Laher (16 years old with Duchenne

MD), who was about to take on the race in the Muscle

Riders chariot! He was not alone though – he brought

muscle with him and was to be pulled by a team of Muscle

Riders lead by Angelos Frantzeskos.

We sat with bated breath, wondering how our heroes

were doing. We need not have worried – they were

firmly in the saddle and showing everyone just what

the Muscle Riders could do. The team pushed hard and

made it across the line, and we could not be more proud

of their unbelievable effort!

Mikaeel had the following to say after the race: “I would like to thank the MDF, Angelos and team for giving me

the opportunity to ride along in the chariot. I hope that more people will support the Muscle Riders team in future

so that we can create more awareness and funds. I enjoyed every minute of it.”

Angelos Frantzeskos added: “It was exhilarating to see someone so young enjoy the ride so much, it was an

amazing experience.”

A special thank you goes out to the Glencore Cycle Team for their overwhelming support – we could not have

asked for a more inspirational and supportive team! Sannetjie Els of the Glencore team said how much the team

enjoyed cycling with the Muscle Riders and that everyone had had a terrific time cycling for those affected with

muscular dystrophy.

The atmosphere at the cycle challenge was something that had to be seen to be believed. The air was full of

the most amazing smells of delicious food nearby and cappuccinos that were nothing short of spectacular. The

heat was unforgiving to say the least but that did nothing to the unbreakable spirit of all those who were cycling

for people affected with muscular dystrophy.

To each and every Muscle Rider, we are truly blessed to have each one of you behind us and we cannot wait

to see what 2019 holds in store!


Gauteng Branch

Tashni van Schalkwyk

Tashni was born on 18 October 2008 at Linksfield Hospital, Edenvale.

She was diagnosed with SMA at a very young age.

The brave and loving soul started her schooling career at Ithembilihle School, Primrose in 2015.

She did incredibly well at school and had a special artistic talent.

Reach For A Dream recognised her in this regard by inviting her to demonstrate her artistic


Tashni touched every person she came into contact with in a special way.

She was a very intelligent child and managed to scoop an award at her school for best chess


She was admitted to hospital on 15 January2019, where she was called to rest the following


Tashni will be sorely missed by her mother, sister, nieces, cousins, uncles, aunts, extended

family as well as the hospital and all those at her school.

Franki Smith

It’s always too soon to say goodbye. It is with very heavy

hearts that we say goodbye to Franki Smith, who passed

away on 18 February 2019 – he was an incredible young

man. Our sincere condolences to his family. You are in

our thoughts.

Dumisani Talakumini

Our thoughts and prayers go out to the Talakumini family. We are deeply saddened by the loss

of Dumisani Talakumini on 28 November 2018. His kind and gentle nature and incredible artistic

talent will be deeply missed.


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