MDF Magazine Newsletter Issue 57 December 2018

chikadee

Summer Issue 57

December 2018

R25.00 incl. VAT

Music therapy

for MD children

Beating Duchenne

one step at a time...

Dissecting

Wobbles

GET INTO THE GREEN SCENE


COMPETITION ENDS 31 DECEMBER 2018


DF

Magazine

05 MDF notice board

06 National news

10 MD information

MD INFORMATION

06 Muscular dystrophy awareness

07 Facts about Duchenne & Becker muscular dystrophy

10 The use of antioxidants in FSHD

Events

16 Music therapy for MD children

18 Telkom 947 Kiddies Ride

People

20 Natarshja Meyer – an inspiration for others

21 Hloni’s dream came true – visiting Disneyland

22 Living with congenital myopathy – Lavinia Petersen

24 Beating Duchenne one step at a time …

25 Dissecting Wobbles

27 By talking and knowing about CMT, people can

understand Ella better

28 While it’s not a cure, it’s buying us valuable time

29 Family fund cure for George on living with Becker

Regular Features

36 The View from Down Here

37 Doctor’s corner

38 Sandra’s thoughts on …

Research

30 New insights into muscle fibre loss in Duchenne

muscular dystrophy

31 CMT gene therapy trial to start in 2019

31 Update on DMD gene therapy trial

31 Pain-free and more effective: improving how we monitor

SMA

C O N T E N T S

Published by:

Muscular Dystrophy Foundation of SA

Tel: 011 472-9703

Fax: 086 646 9117

E-mail: national@mdsa.org.za

Website: www.mdsa.org.za

Publishing Team:

Managing Editor: Pieter Joubert

Copy Editor: Keith Richmond

Publishing Manager: Gerda Brown

Design and Layout: Divan Joubert

Cover photo of Lemique Consulting CC courtesy of Sarie

Truter

Future Issues:

April 2019

(Deadline: 8 March 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

Summer is finally in full swing! Whether it’s long sunny days or showers and

thunderstorms that you prefer, a typical South African summer has it covered.

For most of us there’s the expectation that summer will be filled with long, hot,

lazy days and sunshine from dawn to dusk. We anticipate getting the braai

out and spending time outdoors with loved ones. Overall, summer is just a

wonderful season with so much to offer.

In this summer issue you can read about how the Foundation got involved

with raising awareness for International Muscular Dystrophy Awareness month

during September. This campaign was launched this year and we hope that

it will grow in years to come. Hopefully it will be extended to the African

continent next year.

You can also read how small children care for those less fortunate than themselves

by raising money and riding the 947 Kiddies Ride. Well done to our little Muscle Riders!

You are absolute STARS!

As always there are also various inspiring stories of some our members and their journeys with muscular

dystrophy. As well as interesting news on events, MD information and research articles.

Our thoughts and prayers go out to Pieter Joubert and his family. Pieter suddenly fell ill and had to be

hospitalised. We eagerly await his return to the office in 2019.

Thank you to everyone who supported us this year. Without you the Foundation will not be able to provide

services to our very special members.

Wishing you a magical and blissful holiday. Have a merry Christmas and a prosperous new year!

Until next year!

Kind regards,

Gerda Brown

We would like to Thank You

Thank you to everyone who supported us during the

past year and helped to make a difference in the lives

of people who have muscular dystrophy.

From all of us at Muscular Dystrophy Foundation of South Africa

Wishing you a wonderful festive season,

and may the New Year bring you joy,

peace and happiness.

4


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

branch.

If you have any feedback on our publications,

please contact the National Office

by e-mail at national@mdsa.org.za

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

database.

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

dystrophy.

Fundraising

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 national@mdsa.org.za 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.

CAPE BRANCH (Western Cape,

Northern Cape & part of Eastern

Cape)

E-mail: cape@mdsa.org.za

Tel: 021 592-7306

Fax: 086 535 1387

Address: 3 Wiener Street, Goodwood,

7460

Banking details: Nedbank, current

account no. 2011007631,

branch code 101109

GAUTENG BRANCH (Gauteng,

Free State, Mpumalanga, Limpopo

& North West)

E-mail: gauteng@mdsa.org.za

Website: www.mdfgauteng.org

Website: www.muscleriders.co.za

Tel: 011 472-9824

Fax: 086 646 9118

Address: 12 Botes Street, Florida Park,

1709

Banking details: Nedbank, current

account no. 1958323284

branch code 192841

Pretoria Office

E-mail: swpta@mdsa.org.za

Tel: 012 323-4462

Address: 8 Dr Savage Road, Prinshof,

Pretoria

KZN BRANCH (KZN & part of

Eastern Cape)

E-mail: kzn@mdsa.org.za

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

E-mail: leeleith@mweb.co.za

Gauteng

Pieter Joubert

Tel: 011 472-9824

E-mail: gauteng@mdsa.org.za

Duchenne MD

Cape

Win van der Berg (Support Group)

Tel: 021 557-1423

KZN

Maxine Strydom (Support Group)

Tel: 031 762-1592

Cell: 083 290 6695

Gauteng

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

E-mail: hettie.woehler@gmail.com

Facioscapulohumeral (FSHD)

Francois Honiball

Tel: 012 664-3651

Barry Snow

Cell: 083 66 66 270

E-mail: barry.snow@worleyparsons.

com

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

5


National

September was

Muscular Dystrophy

Awareness Month

Because public knowledge of muscular dystrophy is

limited, attitudes towards people with muscular

dystrophy are sometimes based on ignorance and can cause

humiliation. Some might even believe that people with

muscular dystrophy could do more if they just tried harder, or

that they pretend to be unable to do something because they

just don’t want to, and that if they were just to exercise more

they would become stronger. When people are properly

informed about muscular dystrophy, their attitudes and

behaviour towards affected people become more reasonable

and sensitive; thus, discussing disability increases

understanding and tolerance. This helps to minimise the

psychological stress that muscular dystrophy sufferers

might otherwise experience when interacting with others.

September was International Muscular Dystrophy Awareness

Month, which is an important time for all persons affected

by muscular dystrophy. In order to celebrate this special

month, the National Office launched a new online awareness

programme called “Get into the green scene” – green being

the colour of the muscular dystrophy ribbon.

The objectives of the programme were two-fold. Firstly, all

the MDSA Facebook followers were requested to change

their Facebook and WhatsApp profile pictures to the

“Get into the Green scene” logo. Secondly, our Facebook

followers and members were invited to share photos on our

Facebook wall where they have “gone green”. From the

photos it was clear that everyone had a lot of fun.

Thank you very much to Lemique Consulting, Newcastle

Post Office, West Rand School, the MDF branches and our

members for making this campaign a huge success.

6

Muscles Green

By Emile Smith

My muscles became green

It's quite a colourful scene

I'm planted in the ground

My wheelchair need sound

Winter left me bleak

I'm no more weak

Can you see a blossom?

It's green and I'm awesome

I try my best

Just chilax with the rest

These muscles is bit slow

My wheels on the go

My muscles became green

It's the colour of the winning scene.


MD

Some facts about Duchenne and Becker

muscular dystrophy

What is Duchenne/Becker muscular

dystrophy?

Duchenne muscular dystrophy (DMD) is the most common

and serious neuromuscular genetic disorder diagnosed in

childhood. It is a progressive disorder that causes muscles

to become weaker over time until it affects the whole body.

DMD mostly affects boys and reaches across all races and

cultures. Although genetic disorders are usually passed down

from a parent to a child, Duchenne and Becker muscular

dystrophy (BMD) can spontaneously occur even if no one in

the family has had it before.

Becker muscular dystrophy occurs when dystrophin is

manufactured, although not in the normal form or amount.

Because of this, people with Becker are more mildly affected

and have a slower progression than people with Duchenne.

As with Duchenne, Becker can be inherited from a parent

or can be caused by a new or spontaneous mutation in the

dystrophin gene. The symptoms of Becker can begin in

childhood, the teenage years, or even later. PPMD’s

mission and work extends to both Duchenne and Becker (both

considered ‘dystrophinopathies’), but for simplicity we

primarily refer to Duchenne.

DMD is a “gender-linked or “X-linked” disorder. Males are

born with one X-chromosome (from mom) and one Y-chromosome

(from dad). Because males only have one X chromosome,

if the X-chromosome they receive has a gene mutation

that causes Duchenne, the male will be born with Duchenne.

Females are born with two X-chromosomes (one from mom

and one from dad). If females have one X-chromosome that

has a gene mutation for Duchenne, the body will generally

choose to “activate” the other normal X chromosome. If

this happens, the female will be a carrier of Duchenne. This

means that she can pass Duchenne on to her sons (her daughters

can also be carriers) but she herself will have few, if any,

symptoms of Duchenne. If the female’s body, for whatever

reason, chooses to activate the X chromosome with the mutation

for Duchenne, the female will still be a Duchenne carrier,

but will also “manifest” symptoms of Duchenne. She

will then be a “manifesting carrier” of Duchenne.

What causes the symptoms?

Parent Project Muscular Dystrophy writes as follows

2018):

Duchenne is caused by mutations in the gene that encodes

for a muscle protein called dystrophin. Dystrophin is in

every single muscle fibre in our bodies. Dystrophin acts as

the glue that holds muscles together and the “shock absorber”

that allows muscles to contract and relax without being

damaged. Without dystrophin, muscles are not able to function

or repair themselves properly. As muscles are used for normal

day-to-day activity, tiny tears are created in the muscle.

Because there is no dystrophin, the muscles can’t repair

themselves by making new muscle, so the damaged muscle

is replaced by fat and scar tissue. As muscle is replaced, the

person with Duchenne loses muscle function and strength.

There are many muscles in the body (skeletal muscles, heart

muscles, breathing muscles, etc.). Because there are so many

muscles in the body, many parts of the body can be affected

by Duchenne. For that reason, people living with Duchenne

need care for many areas of the body.

What are the symptoms of DMD and which

muscles are affected?

The DMD fact sheet of the Muscular Dystrophy Foundation

of South Africa (2000b) provides the following information:

Most affected boys develop the first sign, which is difficulty

in walking, at the age of 1 to 3 years. By approximately 8 to

11 years they become unable to walk. By their late teens to

early twenties the weakness is usually serious enough to put

their lives at risk.

Boys affected by DMD often walk on their toes with their

abdomen pushed forwards and with a waddling gait. This

is due to weakness of pelvic muscles, which normally

extend to the hips in order to retain the upright position when

standing. When these muscles are weak there is a tendency

for the pelvis to tilt forward, and to compensate for this the

7


MD

affected boy pushes his abdomen forward (called lordosis)

and his shoulders backward. Rising from the floor unassisted

also becomes progressively difficult, which is also due to

weakness of the muscles around the hips. At the same time

as weakness of the hip muscles becomes evident, there is also

weakness of the shoulder muscles so that the affected boy has

increasing difficulty raising his arms.

The confinement to a wheelchair increases the likelihood of

contractures developing as a result of immobility. The sole

of the foot often turns inward. The prolonged sitting in one

position may result in the gradual curvature of the spine to

one side and so compresses the lung on that side. This is referred

to as scoliosis and can result in serious problems with

breathing and chest infection.

The heart is also affected in DMD and this may aggravate

any respiratory problems.

and thighs, while others that are less weak are often enlarged.

The muscles of facial expression, speech and swallowing and

the involuntary muscles (for example those of the bowel and

bladder) are not affected in BMD.

Things to remember when visiting an

emergency room

The DMD emergency card of the Muscular Dystrophy

Foundation of South Africa (2017b) provides the following

information:

Duchenne muscular dystrophy

Leg fracture

• If ambulatory: Ask if internal fixation/surgery rather than

casting may be possible. Surgery may help preserve

walking.

• If your child has had a fall or a leg injury and has rapid

onset shortness of breath/difficulty breathing and changes

in alertness (confusion, agitation, disorientation), this is an

emergency; go immediately to the ER and alert staff that

symptoms could be due to fat embolism syndrome (FES).

Respiratory care

• Risk: Respiratory failure. Please only give oxygen with

close monitoring of CO2 levels; breathing may need to be

supported (with BiPAP, for example).

• If oxygen levels are low, assisted coughing (with cough

assist machine or Ambu bag) may help.

• Take your equipment (cough assist, BiPAP, etc) with you to

the hospital/emergency room (ER); alert your neuromuscular

team that you are going to ER/hospital.

What are the symptoms of BMD and which

muscles are affected?

The BMD fact sheet of the Muscular Dystrophy Foundation

of South Africa (2000a) provides the following information:

BMD has a mild onset during childhood. Muscle cramps

during exercise are often the only problem at first but a few

affected individuals may also be late in learning to walk.

From early childhood affected boys are unable to run

very fast. During the teens or twenties, muscle weakness

becomes evident causing difficulty in rapid walking, running

and climbing stairs. Later it may be difficult to lift heavy

objects above waist level. Individuals with typical BMD may

become unable to walk in their 40s or 50s, or even later, but

there are also more rapidly progressive variants of BMD in

which the loss of mobility may happen in the 20s or 30s.

Over a period of years some muscles become weak and wasted,

especially certain muscles of the shoulders, upper arms

General recommendations and precautions

• Keep immunisations up to date and get influenza vaccine

annually.

• People taking daily, long-term steroids should avoid live

vaccines when possible.

• Always wear seat belts – in the car AND on the wheelchair/

scooter.

Anaesthetic precautions

• Avoid inhaled anaesthesia.

• IV anaesthesia is considered to be safe (with close

monitoring).

• People with Duchenne should NOT receive

succinylcholine.

• Local anaesthetics and nitrous oxide are safe for minor

dental procedures.

If vomiting and/or unable to take daily corticosteroids for 24

hours

• Go to a hospital emergency room.

• Request substitute IV corticosteroid until oral medications

are tolerated (6 mg of deflazacort equals 5 mg of prednisone).

• Remind clinicals that high liver enzymes (AST/ALT) are

normal for people with Duchenne MD.

8


MD

The BMD emergency card of the Muscular Dystrophy

Foundation of South Africa (2017a) provides the following

information:

Becker muscular dystrophy

Cardiac care

• Patients with Becker muscular dystrophy can develop

cardiomyopathy. Those with less severe muscle symptoms

are at risk of severe heart involvement. All need regular

heart checks.

• Early ACE-inhibitor and beta-blocker usage slow the

progress of cardiomyopathy.

• Cardiac arrhythmias must be considered for patients with

palpitations and/or dizziness/pre-syncope and investigated

with ECG, 24-hour tapes or similar.

Respiratory care

• Chronic respiratory failure in Becker muscular dystrophy

may present without the usual signs of respiratory distress.

Subtle signs include early morning headaches, poor sleep

continuity, fatigue, daytime sleepiness, reduced appetite

and weight loss. Consider underlying respiratory failure in

case of a chest infection.

• If supplemental oxygen is required during a respiratory

crisis, this must be carefully controlled. Healthcare professionals

must be alert to the possibility of acute respiratory

failure with an arterial blood gas assessment of oxygen,

carbon dioxide and bicarbonate concentration. Non-invasive

ventilation, with oxygen entrained, may be required.

• Assisted coughing with chest physiotherapy and breathstacking

techniques with an Ambu bag help to clear lower

airways secretions. This can also be facilitated by a cough

assist device. These interventions should be performed

only by trained and experienced persons.

Anaesthetic precautions

• Use intravenous general anaesthetics only (avoid suxamethonium).

• Inhaled anaesthetics should not be used.

• Local anaesthetics and nitrous oxide are safe, e.g. for minor

dental procedures.

Recommendations and precautions

• Immunisations should be kept up-to-date. Do not use live

vaccines if using corticosteroids.

• Wear a medic alert bracelet.

NOTE: Liver enzymes (AST/ALT) will be high on blood

tests: this is normal in Becker muscular dystrophy and is

attributed to muscle breakdown. This should not prompt liver

investigations unless otherwise indicated.

Sources

Muscular Dystrophy Foundation of South Africa. 2017a.

Becker muscular dystrophy. Emergency card.

Muscular Dystrophy Foundation of South Africa. 2017b.

Duchenne muscular dystrophy. Emergency card.

Muscular Dystrophy Foundation of South Africa. 2000a.

Becker muscular dystrophy. Fact sheet, 30 May 2000.

Muscular Dystrophy Foundation of South Africa. 2000b.

Duchenne muscular dystrophy. Fact sheet, 30 May 2000.

Parent Project Muscular Dystrophy. ©2018. What is Duchenne/Becker

muscular dystrophy? www.parentprojectmd.

org/care/for-families/for-newly-diagnosed/learn-about-duchenne-and-becker/.

Suppliers of Medical

Equipment

CE Mobility

Phone: 0860 236624

Johannesburg, Cape Town, Durban,

Port Elizabeth, Pretoria & Rivonia

Website: www.cemobility.co.za

Impact Medical Supplies

Phone: 011 469-1750

E-mail: impactmed@worldonline.

co.za

Website: www.impactmedical.co.za

Clinical Emergencies

Phone: 011 443-9093

E-mail: clinical@icon.co.za

Website: www.clinicalemergencies.

co.za

Solutions Medical

Phone: 021 592-3370

Website: www.wheelchairs.co.za

Medmedical

Phone: 011 640-5262

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Medop cc

Phone: 011 827-5893/4/5

Website: www.medop.co.za

Wheelchairs on the Run (Pty) Ltd

Phone: 011 955-7007

Website: www.wheelchairs-ontherun.

co.za

Radical Mobility

Phone: 011 664-6069

E-mail: www.radicalmobility.com

Hands on Lifts (Pty) Ltd

Phone: 011 918-7060/1

E-mail: lynn@handsonlifts.co.za

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Chairman Industries

Phone: 011 624-1222

Website: www.chairmanind.co.za

Flybrother SA

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Jessen Dakile (Pty) Ltd

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Website: www.jessendakile.co.za

Sheer Mobility

Phone: 021 552-5563

Cell phone: 082 926 5414

Website: www.sheermobility.co.za

Shonaquip

Phone: Cape Town 021 797-8239

Phone: Pretoria 012 665-1211

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Botlhale Ke Katlego Trading (Pty) Ltd

Phone: 083 424 7231

Website: www.bkktrading.co.za

9


MD

The use of antioxidants in FSHD:

What is the scientific rationale and what does

the evidence show?

By Adam Denny, PhD

(Reprinted with the permission of June Kinoshita – FSH Society)

In recent years, scientists around the world have begun to investigate the role of oxidative stress in FSHD. A 2018 study

reported that muscle biopsies from people with FSHD had greater levels of oxidative stress markers when compared to healthy

control muscle (Dias Wilson et al., 2018). In another study, a stem cell-based model indicated that high oxidative stress itself

can lead to increased DUX4 expression (Sasaki-Honda et al., 2018).

These findings indicate that DUX4 can increase oxidative stress, and that oxidative stress itself can increase DUX4

expression, proposing a damaging feedback loop, although this hypothesis needs further investigation.

What is clear in FSHD is the imbalance in reactive species and antioxidant defenses, the two key aspects underpinning

oxidative stress.

What is oxidative stress?

Oxygen is essential to life, but it’s a double-edged sword. Certain oxygen-containing molecules are chemically very reactive

and, if allowed to run amok in our bodies, can damage DNA, proteins, fats, and other components. To combat these “reactive

species,” biology has evolved molecules called antioxidants that neutralize or repair the damage.

Oxidative stress results when the production of reactive species outpaces the body’s antioxidant defenses. This imbalance can

result in longterm damage. Increases in oxidative stress are beneficial in some circumstances, for example, to destroy cancer

cells, but in disease, oxidative stress can be harmful.

10


The role of oxidative stress in FSHD

MD

Most studies of FSHD and oxidative stress are conducted in laboratory models, so we have to be cautious about extrapolating

these findings to humans.

As depicted in the figure (above), lab studies have shown that DUX4 expression can induce a multitude of problems within

skeletal muscle. These include impaired formation of muscle cells and increased inflammation, oxidative stress, and cell

death.

Given these lab findings, individuals with FSHD may well wonder if they should take steps to reduce the potential harm from

oxidative stress.

About antioxidants

To combat oxidative stress, we have antioxidants—substances

that can delay, prevent, or remove oxidative damage.

There are two categories of natural antioxidants:

enzymatic and nonenzymatic antioxidants. Enzymatic

antioxidants are produced by our bodies and work

through breaking down and protecting against the

reactive species. Non-enzymatic antioxidants are a much

larger class of antioxidants and work through disrupting

the chemical reactions caused by reactive species.

Some natural non-enzymatic antioxidants are made

within our bodies, such as vitamin A and coenzyme Q10.

When our bodies don’t make sufficient amounts, we can

take them in pill form. Others stem from external sources,

such as vitamins C, E, and K, along with zinc and selenium.

Antioxidants from external sources are important to factor into a person’s diet. While these antioxidants are also available as

pill supplements, many people prefer to obtain these antioxidants from a balanced diet.

Antioxidant trials

While antioxidants have shown promise throughout the

years in laboratory studies, these results have been hard

to replicate in clinical trials.

One clinical trial investigated the effect of combined

dietary supplementation of vitamins C and E, and minerals

zinc and selenium in individuals with FSHD (Passerieux

et al., 2015). The researchers found that supplementation

did not improve the two-minute walk test, but it did

improve muscle function: individuals could contract

their thigh muscles (quadriceps) harder and for longer

than they could before the supplementation.

The participants who received supplementation also saw

decreases in some of their oxidative stress markers and

increases in certain markers of their antioxidant defense

system.

In another small clinical trial, a Dutch group (Van der Kooi et al., 2016) investigated the supplementation of folic acid and

methionine in people with FSHD. Both supplements have antioxidant properties, and folic acid has previously been shown

to boost DNA methylation, but this study found neither folic acid nor methionine had an effect on DNA methylation levels.

11


MD

Other ways to protect against oxidative stress

Exercise is a very effective way to increase our antioxidant defenses. However, in order to obtain this benefit, one

has to first use exercise to increase levels of oxidative stress. The body then responds by boosting its antioxidant

defenses.

While the oxidative stress produced in exercise is

vital, the exact effect this may have on FSHD is not fully

understood. The type, intensity, and duration of the

exercise all may influence the outcome.

Bankolé and colleagues (Bankolé et al., 2016) have

shown that a combined strength and interval cycling

exercise-training program significantly improved fitness

and skeletal muscle function without negatively impacting

muscle damage. While this study did not investigate

the antioxidant levels of participants, it does highlight

that certain types of exercise can be beneficial for people

with FSHD regardless of the increases in oxidative stress

induced by exercise.

In conclusion…

Research to date has shown some positive results, but important questions remain. First, oxidative stress has a strong link with

FSHD cells in the test tube, but the relevance of oxidative stress in FSHD patients is unknown.

Also, while antioxidant therapies have shown modest benefits, these results came from relatively small clinical trials. We need

to conduct larger trials to understand if antioxidant therapies can protect muscles in people with FSHD.

Editor ’s note: Adam Denny earned his PhD in the Department of Physiology at the University of Otago in New Zealand.

Article available at: https://www.fshsociety.org/2018/10/the-use-of-antioxidants-in-fshd/

References

Bankolé, L.C., Millet, G.Y., Temesi, J., Bachasson, D., Ravelojaona, M., Wuyam, B., Verges, S., Ponsot, E., Antoine, J.C., Kadi,

F. & Féasson, L. 2016. “Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral

muscular dystrophy: A randomized controlled trial”, Medicine, 95(31): e4497. doi: 10.1097/MD.0000000000004497.

Dias Wilson, V., Thomas, C., Passerieux, E., Hugon, G., Pillard, F., Andrade, A.G., Bommart, S., Pincemail, J., Mercier, J.,

Arbogast, S. & Laoudj-Chenivesse, D. 2018. “Impaired oxygen demand during exercise is related to oxidative stress and

muscle function in FSHD”, JCSM (Journal of Cachexia, Sarcopenia and Muscle) Rapid Communications, 1(1). https://jcsmrapid-communications.info/index.php/jcsm-rc/article/view/29.

Passerieux, E., Hayot, M., Jaussent, A., Carnac, G., Gouzi, F., Pillard, F., Picot, M-C., Böcker, K., Hugon, G., Pincemail, J.,

Defraigne, J.O., Verrips, T., Mercier, J. & Laoudj-Chenivesse, D. 2015. “Effects of vitamin C, vitamin E, zinc gluconate, and

selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with facioscapulohumeral

dystrophy: A double-blind randomized controlled clinical trial”, Free Radical Biology and Medicine, 81: 158-169.

Sasaki-Honda, M., Jonouchi, T., Arai, M., Hotta, A., Mitsuhashi, S., Nishino, I., Matsuda, R. & Sakurai, H. 2018. “A patientderived

iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4”, Human

Molecular Genetics, September 12. DOI: 10.1093/hmg/ddy293.

Van der Kooi, E.L., De Greef, No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with

facioscapulohumeral muscular dystrophy”, Neuromuscular Disorders, 16(11): 766-769. DOI: 10.1016/j.nmd.2006.08.005.

12


13


Where the Big Five meet Sylvester the lion

The Karoo National Park is famous for many

wonderful reasons; however, in 2015 the most

famous reason was the grand escape of Sylvester

the lion.

The story began during the night of 4 June 2015

when a three-year-old lion escaped from the Karoo

National Park, triggering a long and arduous chase

lasting 24 days. This event had the nation watching

and waiting with bated breath and saw the start of a

wild goose chase involving many devoted individuals,

sniffer dogs, helicopters and even a microlight.

By the first week the media had run with the story

and Sylvester was a nationwide sensation, with a

select team of SANParks' trackers and honorary

rangers in hot pursuit of the wanderer. Sylvester

was finally darted on the 24th day of the search,

having travelled approximately 371 km and been

spotted a mere four times. Along the way he had

killed 27 sheep, a kudu and an Nguni cow. Although

Sylvester took his toll on local livestock during his

three-week adventure. it is said that during this time

stock theft in the region dropped to an all-time low!

Before Sylvester’s escape the other male lions in the

Karoo National Park had been making life very difficult

for him, provoking his intention to roam. When

Sylvester, fearing for his life, managed to escape

again from the Park within a matter of months after

his return, SANParks made the decision to move

him to a new home.

And so we leave Karoo National Park and turn our

attention 350 km south east, where lies the Kuzuko

contractual area of Addo Elephant National Park. It

is home to the Big Five and now to one of Africa's

most famous sons, Sylvester the lion.

During the day you can look out over the Karoo

Plains and Zuurberg Mountains, and at night you,

and Sylvester, can look up at a canopy of a million

stars. Perched on top of a hill, Kuzuko is located

in a malaria-free region and provides luxurious

accommodation, fine dining, cheetah encounters,

nature walks, bushman painting exploration and

guided game drives.

Kuzuko has a fully wheelchair accessible

chalet available for disabled visitors, providing

plenty of space, all the required grab rails and a large

roll-in shower. The unit is accessed by a well-lit

paved path from the main lodge building. The lodge

itself has an accessible viewing deck, dining room

and lounge areas with shallow gradient ramps

linking most points.

Although visitors are expected to leave their

vehicles at the park entrance, those using wheelchairs

will be given the opportunity to drive their

personal vehicle to the lodge entrance when

needing to disembark or embark.

The game drive vehicles are not specifically

wheelchair accessible, but the rangers and

staff will do whatever it takes to allow disabled

visitors to enjoy their game drives! We found them

to be extremely willing and helpful and very

considerate when negotiating with the rugged

terrain of the park.


These days Sylvester has settled down and found

the company of a male buddy, Fielies, and together

they have connected with two younger lionesses

who have their own remarkable story to tell of

survival against overwhelming odds – but that is for

another day. Sylvester has found a territory he can

call his own and, together with Fielies, they reign as

the kings of Kuzuko.

Kuzuko Lodge

Contact number: + 27 (0)42 203 1700

Email address: kuzuko@legacyhotels.com

Web: https://www.kuzuko.com

ACCESSIBLE HOLIDAY ACCOMMODATION

The following establishments offer more wheelchair accessible accommodation which has been used and

evaluated by a member of the MDF. If you have stayed at a venue and found the accommodation to be wheelchair

accessible, please let us know so that we can add it to our database.

Addo Elephant National Park

www.sanparks.co.za/parks/addo/

Cornerway House, Plettenberg Bay

info@cornerwayhouse.co.za

Excelsior Manor Guesthouse, Robertson

www.excelsior.co.za

FunkyTown, Jeffreys Bay

www.funkytown.co.za

Gubas de Hoek, Robertson

www.gubas-dehoek.com

Mountain Zebra National Park

www.sanparks.co.za/parks/mountain_zebra/

Rocherpan Nature Reserve

www.capenature.co.za/reserves/

Storms River Mouth

www.sanparks.co.za/parks/garden_route/camps/

storms_river/default.php

West Coast National Park

www.duinepos.co.za/

Makaranga Garden Lodge, Kloof, Durban

www.booking.com/hotel/za/makaranga-gardenlodge.en-gb.html

15


Events

Music therapy for MD children

Music therapy

Music therapy is the use of music and musical elements

by a registered music therapist to promote, maintain,

and restore mental, physical, emotional, and spiritual

health. Music has non-verbal, creative, structural, and

emotional qualities.

Characteristics and need areas:

• Need of independence

• Feeling of accomplishment

• Opportunities to participate in meaningful activities

• Enjoyable and recreational experiences

• Opportunities for expression

How can music therapy address the need areas for an individual with

muscular dystrophy?

• Motor skills: Strengthening of muscles through movement and instrumental play. Music also

provides motivation for movement and for improving the range of motion. Instrumental play and

movement can improve coordination.

• Communication skills are enhanced through the relationship with the therapist or group members.

Turn taking and listening during sessions helps to enhance communication.

• Cognitive skills are activated through composition and song writing.

• Emotional support is given through the opportunity for frustration to be vented verbally and

non-verbally and through verbal processing, song writing and instrumental expression.

• Musical skills are exercised.

• Social interaction takes place in music therapy and meaningful social relationships are built. This

decreases isolation and boosts self-confidence. Music therapy provides space for unconditional

positive regard and can build or restore self-esteem.

16


Events

The music therapist

After designing realistic goals and target

objectives to address identified needs,

music therapists plan and implement individualised

music therapy treatment programs with

strategies, procedures, and interventions to

develop skills necessary to achieve an

optimum level of success or quality of life for

individual clients, such as those with muscular

dystrophy. Three clinical goals will be set for

each individual or group.

Music therapists document client responses,

conduct ongoing evaluations of progress and

performance, and make recommendations for

future consideration. Music therapists work with team members and families, providing ways to include

successful music therapy techniques that help to enhance the quality of life.

For more information about music therapy in your area, please look at the website of the South African

Music Therapy Association at www.samta.co.za.

Music therapy session at West Rand School

On 31 October, MD learners at West Rand School in Krugersdorp were treated to an amazing music therapy

session lead by Mrs Estine Brown.

At first they seemed apprehensive, unsure of what this lady with a guitar had in store for them. Soon all

was revealed and they were all joined together in laughter, happiness and the pure joy of making music

together.

Afterwards they were treated further to gift bags from MDF Gauteng which contained various tasty treats.

The day was an immense success, and each and every child had a fun-filled experience they would not

soon forget.

17


Events

Telkom 947 Kiddies Ride 2018

By Dr Sandeepa Rajbaran Singh

Cayden Fourie, Dante Fourie, Ava Rudman, Juanru

Roodt, Heinrich Muller, Beth van Til, Maheya Singh,

Leyha Naicker, Kian Otto, Riley Vermaak, Henrico Verster,

Dyllen du Plooy, Daniël Erasmus and Liam Dykstra

may not have all the answers, but the one thing

they know for sure is that “Improvement begins with I”.

Motivated only by the desire to improve the lives of others,

each of the junior Muscle Riders registered for the

Telkom 94.7 Kiddies Cycle Challenge believing “I can

make a difference”.

Beneath bright blue skies and glorious sunshine, riders

exchanged high-fives and encouraging hugs to slow

the butterflies that fluttered in their tummies. The roar

of excited cyclists, kitted and ready to go, were punctuated

only by repeated safety checks. At the start line

each of the children was already a champion, but that

didn’t stop the zeal with which they furiously sped towards

the finish line. With little beads of perspiration

rolling down flushed rosy cheeks, the kids arrived at the

finish knowing they had made a difference in the lives

of their friends with muscular dystrophy.

The reasons for choosing to ride are not only simple

and true but also motivational enough to challenge each

one of us into action! Riley Vermaak (aged 4), whose

grandpa lost two sons affected by Duchenne muscular

dystrophy many years ago, rode in support of anyone

with this disease. Brothers Dante (3) and Cayden Fourie

(6) rode to help their grandpa raise lots of money

to buy wheelchairs for those who can’t walk. Cousins

Maheya Singh (5) and Leyha Naicker (11) have grown

up appreciating how blessed they are and realise that

they need to help others whenever they can, especially

when helping others feels so good! Grateful for the legs

that Jesus gave him to be able to ride his bike, Juanru

Roodt (5) took part in the race for friends who can’t

walk, and he added that he was raising money to buy

wheelchairs for them.

On the day of the cycle challenge, these brave cyclists

showed their parents and the community that they not

only knew how to count but that they also knew what

counts the most … kindness and generosity!

18


19


People

Natarshja Meyer:

An inspiration

for others

By Mariska Meyer

Natarshja is far from stopping her efforts to

excel, achieve her goals and dreams, and exceed

expectations. She would like to study tourism, and

her dream is to visit holiday destinations and resorts

to make sure they are wheelchair/disability friendly.

Natarshja is my family’s biggest inspiration, and I

know her future is bright and she will continue to

achieve and excel in whatever she does.

I believe I am the proudest mother as I write this.

Our daughter, Natarshja Meyer, who is writing

matric this year at the best school this side of the

equator, Muriel Brand in Brakpan, is the biggest

inspiration of them all. Our family has been

through some tough, trying times, starting with my

mother and my children’s grandmother passing

away at a young age of 41, my three brothers being

diagnosed with myotonic dystrophy, Natarshja being

diagnosed with Friedrich’s ataxia, and losing my dad to

murder in 2015, just after my husband left his

company to go into business with my father and being

unemployed since. Natarshja never lost hope,

never gave up and always worked hard to achieve

the goals she set for herself.

We are blessed to call this young lady with a

fighting spirit our daughter, who will never give up

on her hopes and dreams and has the brightest

outlook on her future.

Note: Natarshja Meyer and Gert (a friend)

attended Muriel Brand’s matric farewell at

“Four One and Only”, Petit, Benoni.

Natarshja’s hair and make-up were done by

Jaco de Meyer (076 159 7356).

The car was sponsored by GM Panelbeaters

(Wynand van der Walt, 076 499 1584)

I cannot ever remember Natarshja not being

the biggest inspiration and motivator to always

work to reach your goals and to never give up on

your hopes and dreams. In 2016 at age 16/17

Natarshja broke the u/18 javelin record for girls with

disabilities, making me the proudest mother and the

teachers jump for joy. In 2017 Natarshja found grade

11 a bit difficult and challenging, with her health

taking a dip to such an extent that teachers were

concerned that the stress levels of grade 12 might

be just too much for her fragile body and gentle

personality. We decided to give Natarshja the

option to leave school with a honourable grade 11

certificate, which is still a very good achievement

for a young lady with her challenges. Natarshja’s

kind nature turned into the fighting spirit of a lion.

She proclaimed she had not worked so hard over

the years to give up at the finish line! This year

she exceeded everyone’s expectations throughout

the year and attended her matric farewell this past

weekend.

20


Hloni’s dream came true visiting

Disneyland in Miami

By Lerato Chiloane

It all started when Lehlohonolo Chiloane was

nominated by an MD social worker as a suitable

candidate to have a wish fulfilled by Reach For A

Dream.

She was interviewed and had three dream

choices: one was to visit Disneyland, which

she chose. Our exciting journey started on 18

September 2018 at OR Tambo airport, where we

met with Melissa and Darren of Reach For A Dream

for some drinks and itinerary explanation. We were

given a lovely send-off. At 20:00 we boarded the

plane heading for Atlanta. Hloni was very excited

as she was doing an international flight for the first

time. The staff of Delta airline were so friendly and

helpful in catering for Hloni’s needs. The whole

experience was just amazing for Hloni, from the

movies on the plane to the food. On the 19th we

arrived in Atlanta and took a connecting flight to

Florida, where we were greeted by the sight of its

many beautiful beach houses.

last park we visited was Sea World, where we saw

all the wonders of the sea.

How we wished to have stayed for longer to enjoy

the place, the people, and the amazing rides. When

people heard we were from South Africa, they

responded very warmly and asked us lots of

questions about the country. We held our SA flag

high with pride.

The most amazing thing was sharing information

about our Muscular Dystrophy Foundation of South

Africa and hearing about the Muscular Dystrophy

Association that is established over there.

It was a truly amazing experience we were

given, and we are grateful to the MDF social

worker Rudzani and to Reach For A Dream for

making Lehlohonolo Chiloane’s dream come true.

We were welcomed by staff from Give Kids the

World Village and taken by a shuttle vehicle to our

destination, about 45 minutes away. The village

is phenomenal, and once there you never want to

leave. After the Disney itinerary was given to us

and all procedures explained, we rested for the

remainder of the day as we were still jet-lagged.

Next morning, we had breakfast and left for the

Disney World Magic Kingdom. The place was so

beautiful. Hloni enjoyed all the rides as most of

them were wheelchair friendly. We stayed until

closing time, stopping only for lunch, and even then

Hloni didn’t want to leave. On the second day of our

adventure we went to Universal Studios where we

saw many Hollywood characters; the most exciting

part was The Wizarding World of Harry Potter. The

21


People

Living with

Congenital Myopathy

By Lavinia Petersen

someone to help me as my legs were not strong

enough for me to move around on my own. I loved

going to school, learning and meeting new friends.

At the age of 12 years (April 1998) I started walking

on my toes as my ligaments were short and I had to

undergo surgery on my legs. I was out of school for

approximately six weeks. During that period I felt so

helpless. In June of the same year I went to see an

orthopaedic surgeon for my scoliosis. Consequently

a spinal brace was constructed to control my spinal

deformity. I hated every minute of wearing it, but

I had no choice but to do so. I had to wear it to

school, where the children teased me, and I had to

sleep with it on. The only time I could take it off was

when I washed myself. I was in between the Red

Cross Hospital and Medi-Clinic, where I was treated

by three specialists.

I am Lavinia Petersen from Mossel Bay, a 31-yearold

woman who was diagnosed with congenital

myopathy, which is a muscular dystrophy (MD) that

affects the muscles from birth. At the age of 1 year

I started showing signs of MD when I frequently

fell on my forehead. My parents, Ivan and Belinda

Petersen, took me to a paediatrician in George.

The doctor suspected that I had some sort of MD

and he referred me to The Red Cross Children’s

Hospital, where a muscle biopsy confirmed that I had

congenital myopathy. The doctor told my parents

that I would only live until the age of 9 years; what a

shock that must have been for my parents. I had to

visit Red Cross Hospital every year for check-ups.

As time went by I had to go to school. My parents

were told by the teachers to put me in a school

for children with special needs, but my mother

refused and I was allowed to remain at the school

I was at. I had my challenges at school, especially

when climbing steps to attend classes. I always had

When I started attending high school in 1999, my

mother went to the principal to arrange that I have

classes in the same block because I could not walk

far and climb so many steps. One time at school

during break a friend asked me: “Are you not angry

at God for making you go through all these things,

being disabled?” I answered: “No, I’m not because

God has a reason for making me this way and he

has a purpose for me being here.” She said that

she would have been angry at God. There was a

time when I wanted to leave school because I could

not cope with the workload, but God gave me the

strength to go to school each day.

In June 2001, I had another operation on the back

of my neck muscles. The doctor at Medi-Clinic

explained that it would be a long procedure and that

my parents should remain calm when they saw me.

When the nurses pushed me out of the operating

room and into ICU, my mother collapsed when she

saw me because I had a brace on with four screws

in my head. I still have the scars of this operation.

I had a lot of support from my family, teachers and

friends. I could not attend school for six months.

I could not walk alone or wash myself properly or

wear proper clothes. During the night I had to call

my parents to help turn me over on my sides. I got

so tired of being helpless that I cried at times. My

mom had to leave her work during this time to take

care of me.

22


People

In 2003 I finished my matric, and between 2003 and

2005 I completed a management assistant course. I

started my first job straight after the exams.

Today I am 31 years old, thanks to God’s grace. I

believe God really has a purpose for me being here

and everything that I went through. He was with

me every step of the way. God blessed me with the

most amazing parents. I can always count on them

to help me. Going through all this since my childhood

was not an easy road to walk, but every hurdle

I crossed made me the person I am today.

I would like to say thank you to my family and

everyone who has played a role in my life.

People should be reminded that even if we are

disabled, we should be treated with the utmost

respect, just as anyone would want to be treated. I

want to inspire others and tell them not to give up

but to believe in themselves.

Convaid Rodeo 12 Inch special needs

stroller for sale

Includes:

Tilt in space

Adjustable hardware for left & right lateral support

Firm left & right lateral supports

Planer seat cushion - anti-thrust,

H-harness

3 Point positioning belt

Fully adjustable foot plate to suit child's length

Removeable & fully adjustable sun canopy

Removable rear wheels

Folds up, can fit in a car boot

Excellent condition. This is really a fantastic stroller for special needs children.

Rated for up to 35kg body weight. Reason for sale: my son has outgrown it. Price:

R30000.00

New would be +- R60000.00

Contact: Francois on 0828893595

Thank you, DStv for airing our advertisements about

muscular dystrophy.

We are most grateful for your support.

23


People

Beating

Duchenne

one step at

a time...

By Albi Viljoen

We would like to introduce you to Jaco George

Viljoen. Jaco is an 8-year-old boy who was born on

the 12th of April 2010 at the Sunward Park Hospital

in Boksburg.

At the age of 7, with the world at his feet, Jaco dreamt

of becoming a policeman, but his world and dreams

were shattered on the 6th of November 2017 when,

after a lot of testing, Jaco was diagnosed with

Duchenne muscular dystrophy.

Being the determined child that he is, Jaco decided

that this was merely an obstacle in his life and not

the end of it. His parents have done intensive

research and Jaco is receiving various alternative

treatments, which include biokinetics twice a week

and hydrotherapy once a week. Jaco’s diet has also

been changed to include only healthy eating with the

exclusion of sugar and starch.

Jaco is a firm believer in the story of David and

Goliath and will tell you that he is David and DMD

is Goliath and that with God on his side he will also

defeat the enemy. With that thought, the NPO “Walk

with Jaco” was registered to do various awareness

and fundraising activities to support research in the

treatment of DMD and to fund Jaco’s treatment. The

Facebook page “Walk with Jaco” has his day-to-day

stories and what is currently happening in this little

warrior’s life. Please like his page and attend the

various fundraisers were possible.

Contact details for

“Walk with Jaco” are albi@walkwithjaco.

co.za and Albi at 060 540 1437.

24


People

In 2010 I was a complete and utter mess, from a psychological point of

view. Yes, a muscle disease is a physical thing, but it’s also very much

a battle of the mind. It presents psychological, philosophical and often

spiritual obstacles that must be negotiated up here between our ears.

For many years people encouraged me to write my story down,

simply to share with others and maybe to encourage people in a similar

position to me. But the truth is I was too young and too full of

rubbish, too emotionally ‘crippled’ to put down anything of substance.

But, eventually, after more than fifteen years of dealing with FA

(Friedreich's ataxia) I started, little by little.

That was eight years ago.

By Andrew Marshall

Once I started I found that writing my thoughts down without

judgement – simply vomiting my raw emotions onto my keyboard – was

incredibly and unexpectedly cathartic. Now, I am nowhere close to

considering myself a ‘real’ writer, thanks to a combination of some pretty

delicious dyslexia, instinctive procrastination/laziness operating at Olympic levels and super dodgy keyboard

skills (which I suspect applies to a lot of you guys, too). But, after meeting my editor, Andrew Miller, and having

him help me reshape the mess I had already created, guiding me in putting down more things he thought the

reader would want to read, I finally had something. (Not only is Andrew an award-winning novelist, the author

of multiple other books and someone who works as a full-time writer in both the business and literary worlds,

he is also the ‘lucky’ beneficiary of spinal muscular atrophy type 2, a type of muscular dystrophy. He combined

his writing expertise and his experience with his own disobedient body to add to my perspective, and he has

helped me beyond comprehension.)

The result, after eight long years of effort, is Dissecting Wobbles. A book that takes you through my childhood

and that feeling of always being ‘different’, scrawny, clumsy. Then my Mom’s search for answers (and the

eternal question: why isn’t Andrew like other children?). And, of course, the big bad diagnosis, followed by my

weird, wild, rebellious teens.

To be honest, some of it was really difficult to write down. The struggle with not being like everybody else

is a lifelong battle, while girls and relationships (lack thereof!) have also been massive obstacles, as were

occasional tangles with depression, alcohol and weed. It’s not easy to talk to the world about any of these

things, or about moving into ‘adulthood’ and trying to find a place in society. But then the position I dreaded all

though my life, close to total incapacitation, hasn’t been a breeze either. So, as hard as it’s been to be honest,

there’s also been freedom involved in the process. Telling my story has given me a new way to relate to, and

share with, other people.

Of course, Dissecting Wobbles will also tell you about the wonderful and incredibly important people in my life,

and some of the awesome things I’ve been lucky enough to experience, including swimming with dolphins,

treetop ziplining, river rafting and skydiving. The skydive was organised by the MDF as a fundraising event,

and I got a bunch of people to sponsor my plummet to earth at terminal velocity. Raising cash to help people

in the same boat as I am felt phenomenal!

Because I live an exceptionally privileged life and have had opportunities many of my boatmates only dream

about, once overheads for the book have been covered 50% of sales will go to the MDF. The rest will be

invested in an idea that’s been incubating for a while, so watch this space!

Please have a look at my website (www.dissectingwobbles.co.za), and read the synopsis and samples. If you

like what you see you can get it at any decent book shop. The tech savvy can also use loot.com or takealot.

com, and a digital version is available on Amazon.

Or if you want, email me directly on marshandyjames@gmail.com and I’ll sort you out…

25


People

Tony Caruso is taking on

RideLondon for the second time

Tony Caruso, 33 from Royston, Hertfordshire, will

be taking on the Prudential RideLondon-Surrey 100

for the second time this July in aid of Muscular

Dystrophy UK.

“I absolutely loved RideLondon last time, there is

such a buzz about the event, and after a year out I’m

ready to take on the challenge again for Sophie.”

Tony’s niece and goddaughter, Sophie, was born

with the very rare muscle-wasting condition,

Ullrich muscular dystrophy. There are less than 300

children who have been diagnosed.

“To date, Sophie has undergone 8 different

operations with more in the future. There is

currently no cure for Sophie’s condition but there is

hope. There are plans for a clinical trial of a new

drug and lots of effort is being put in to understand

more about the type of MD that Sophie has. That is

why I’m taking part in RideLondon.”

Tony was one of MDUK’s top fundraisers in 2016,

raising an incredible £1140, more than double the

target.

“I achieved this through the persistence of

chasing people. On Facebook, personal WhatsApp

messages, sending round work emails, getting

Sophie’s story out there. This helped to not only get

donations from people who know Sophie, but also

others who didn’t and wanted to help.”

Tony is about to start a new job and the time off

between has given him time to get some extra

training in and follow people up for sponsorship.

“I think Sophie is actually more excited about me

starting my new job than me! My new job is for

GoHenry, a child’s pocket money card that she has

and loves!”

Tony’s tips for the rest of #TeamOrange taking on

this year’s challenge is to:

“Look out for little towns and villages whilst cycling

through Surrey. The cheers really give you a boost

for another few miles.

“Travel light! I took a backpack full of gels and food,

but didn’t really end up using any of it. There are

plenty of food and water stations along the way to

top up if you need to. Do, however, try and carry as

much water as you can and keep hydrated.”

Article online at: https://www.musculardystrophyuk.

org/your-stories/tony-caruso-is-taking-on-ridelondon-for-the-second-time/

26


People

“By talking and knowing about CMT,

people can understand Ella better”

Lucy Brady, whose daughter Ella, six, has Charcot-

Marie-Tooth disease, says that raising awareness of

the condition makes life easier for herself and her

family.

She said: “Ella calls her condition her ‘cheeky feet’,

which gives people a starting point to ask questions.

Because Charcot-Marie-Tooth doesn’t sound like it’s

related to limbs, people sometimes get confused.

They think, ‘What’s wrong with her teeth?’

afraid to ask, ‘Why does your daughter have things

on her legs?’

“Children are the best at addressing it, because they

do ask questions and then you can explain.

“We live in a small town in Cambridgeshire, and

quite a lot of people know Ella. Once I’ve explained

muscular dystrophy to them, quite a few people

have said, ‘Oh, I think that someone in my family

must have had that.’

“The best way to describe it is to say that her nerves

don’t work the way that they should, so the signals

her brain is trying to send to her feet don’t get there.

Because these signals aren’t getting through, she’s

getting muscle loss because they aren’t being used

properly.

“The diagnosis was a massive shock for us initially

and we felt a lot of disbelief, but you just have to get

on with it. We’ve always tried to tell her that if there’s

something she wants to do, she should do it. We

encourage her to cycle and use a scooter, and we

go on day trips to lots of different places.

“You get drawn into lots of appointments and treatment

plans. You adapt, but life has changed a lot

for us. We’ve had about eight different appointments

in the last month. Luckily I’m self-employed, which

makes it easier, but it does have quite an impact on

your life.

“A lot of people are interested in Ella, but because

she wears splints you tend to get people staring and

not asking questions. She’s oblivious, but as her

mum I notice it. It would be nice if people weren’t

“By talking and knowing about CMT, people can

understand Ella better, and that helps us as well.

“She had surgery in February on both of her feet to

bring them into a better position. She’s a really busy

girl so she doesn’t like being stuck in a wheelchair.

We’re six months on so she’s done really well. She’s

wearing ankle foot orthosis all day and she’s even

got a little bit of control in the muscle of her left foot

which she hasn’t had at all for about three years.

We’re expecting an 18-month time frame to see if it

has corrected more than just the foot position.

“We seem to have got the feet straight, but now

she’s suffering in her hands. We had hoped that

we’d have a lot more time before that happened,

but her fingers are curving and she’s losing a lot

of strength and wearing hand splints at night. But

she doesn’t let it get to her – she just gets on with

things.”

Article online at: https://www.musculardystrophyuk.

org/your-stories/by-talking-and-knowing-about-cmtpeople-can-understand-ella-better/

27


‘While it’s not a cure, it’s buying us valuable time’

The fight for access to Spinraza

Amy Cameron’s son Zac, three, was diagnosed with

SMA Type 1 in November 2016. He began receiving

Spinraza – the first and only treatment for the

condition – last year, and Amy is now campaigning

for all families affected by the condition to have

access to the drug.

Amy, from Alloa, Clackmannanshire, said: “When

Zac was diagnosed with SMA, my world began to

fall apart. SMA is a cruel condition and the future

for our family looked increasingly bleak. But all this

changed when we heard about Spinraza. Our spirits

were instantly lifted.

While it’s not a cure, it is buying us valuable time

with Zac and enabling him to reach milestones we

never thought would be possible, such as picking up

his cup for a drink and moving his legs. Zac has so

much to offer the world and this is the only treatment

that is giving him the chance at life.

“As parents, my husband and I are determined to

secure the happiest life possible for Zac and his

brother. Life is for living and making memories and

we will face whatever challenges lie ahead together

as a family.”

Article online at: https://www.musculardystrophyuk.org/your-stories/162422/

The Muscular Dystrophy Foundation of SA

would like to thank the National Lotteries

Commission for their support.

28


People

‘It’s so important to raise money

for research’ Family fund cure for

George on living with Becker

George Booth, six, from Weston, Stafford, began

getting muscle spasms in his calves aged two. As

time went on, these became more frequent and

painful, spreading to his thighs. When the spasms

started to last for up to an hour, preventing George

from being able to stand or walk, his parents Adam

and Cerys took him to the GP.

The doctor noticed that his calves were large and

his muscles and tendons were tight. After more

tests and consultations, he was referred to a muscle

team at a local hospital. George was diagnosed with

Becker muscular dystrophy following a DNA test, in

January 2017.

His parents and older brother Freddie set up the

family fund, A Cure for George, to raise awareness

and fund research into the condition. Since then,

Adam has cycled a stage of the Tour de France this

summer with five friends. Cerys and Adam’s brother

Freddie, nine, made and sold bookmarks as part of a

summer fete stall with other fundraising games and

Adam’s employers also donated a Champagne bottle

signed by six nations rugby players to the cause.

In total the family fund has raised over £16,000 in

less than 6 months.

Adam, a project manager, said:

“The hard thing about Becker is the uncertainty,

because it affects people in different ways. We don’t

know how quickly it’s going to progress, and how

much it’s going to impact on George.

“At the moment, he’s doing well. He uses a

wheelchair to get to school and if we’re doing

something involving a lot of walking, but he can still

play rugby on a Sunday, just as long as he takes

some breaks when he gets tired.”

“It’s so important to raise money for research. It still

surprises people when we tell them that there’s no

cure for what George has. But between now and

when he gets older, there’s lot of time for things to

change. The scientists with the brains to do it are

there, we just need to make sure they have enough

money to fund the research.”

Article online at: https://www.musculardystrophyuk.

org/your-stories/its-so-important-to-raise-moneyfor-research-family-fund-cure-for-george-on-livingwith-becker/

29


Research

The following four articles are from the website of Muscular Dystrophy UK.

(Published date: 07/09/2018)

Professor Jenny Morgan and her team

at University College London (UCL)

have shown that a type of cell death

called necroptosis has an important

role in Duchenne muscular dystrophy.

The study – published today in Nature

Communications – helps improve our

understanding of muscle fibre loss in

Duchenne.

Understanding muscle fibre death

in Duchenne muscular dystrophy

In this project, Professor Jenny

Morgan and her team at University

College, London used a mouse model

to investigate a biological process that

leads to muscle fibre death in Duchenne

muscular dystrophy.

This project was co-funded by three

members of the Duchenne Forum –

Muscular Dystrophy UK, Duchenne

Children’s Trust and The Duchenne

Research Fund. The Duchenne Forum

is a group of charities working together

to accelerate progress in the search for

treatments and eventually cures for

Duchenne muscular dystrophy.

What did the research show?

Muscle cells in people with Duchenne

muscular dystrophy undergo an

abnormal type of cell death, which is the

basis of the muscle wasting.

30

New insights into muscle fibre loss in Duchenne muscular

dystrophy

There are two types of cell death

mechanism: apoptosis and necrosis.

An apoptotic cell digests itself and a

necrotic cell explodes. In Duchenne

muscular dystrophy, muscle fibres die

by necrosis. Necrosis was believed to

be a disorganized process, but it has

been recently discovered that necrotic

cells can be finely organized. This

organized necrosis is called

necroptosis.

Professor Morgan, Dr Bencze and

colleagues have investigated the role of

necroptosis in Duchenne. When one of

the proteins of the necroptosis mechanism

was blocked in muscle cells

grown in the lab, the cells were more

resistant to some toxic treatments,

which normally trigger cell death.

The researchers also generated a

dystrophic mouse model that is missing

this protein; this protected cells

from necroptosis. In these mice, muscle

cell death and scarring (fibrosis)

were decreased, and muscle function

was improved. These results demonstrate

that necroptosis is an important

cell mechanism that is involved in

dystrophic muscle damage. Targeting

necroptotic cell death could therefore

be a therapeutic strategy to counteract

muscle loss in people with Duchenne.

The team presented this work at

conferences including the UK

Neuromuscular Translational Research

Conference and the 2017 World

Muscle Society meeting, where they

won a prize. They also published

By Jenny Sharpe

their findings in the scientific journal,

Nature Communications.

Why is this research important

and what are the next steps?

This work identifies for the first time

necroptosis as a cell death mechanism

in muscle. Although basic research

such as this is a long way from a

treatment, it is important to gain a

greater understanding of how muscles

are damaged in Duchenne muscular

dystrophy. These results show that

the proteins involved in this cell death

pathway do have a role in the symptoms

of Duchenne, but further work is

needed to understand the mechanisms

behind this. If a suitable molecule was

identified to block the cell death mechanism,

it could help to reduce the cell

death of muscle cells and slow down

the development of fibrosis. Such an

approach could be used in combination

with other treatments aiming to restore

dystrophin to the muscle.

How might this research impact

on other neuromuscular conditions?

It is likely that muscle fibres die by this

type of cell death mechanism in other

neuromuscular conditions. This would

need to be investigated in cell and animal

models of these conditions.

Article online at: https://www.musculardystrophyuk.org/grants/understanding-muscle-fibre-death-in-duchennemuscular-dystrophy/


Research

CMT gene therapy trial to start in 2019

By Sofia Nnorom

(Published date: 15/10/2018)

Sarepta Therapeutics has announced that

it will be working with Dr Zarife Sahenk

from Nationwide Children’s Hospital in

the United States to develop a gene therapy

for Charcot-Marie-Tooth disease (CMT).

The therapy – called NT-3 gene therapy –

uses a harmless adeno-associated virus to

carry a gene called neurotrophin-3 (NT-3)

into the body. Neurotrophin-3 is important

for the functioning of Schwann cells,

which are vital for maintaining the health

and survival of our nerves. CMT causes

nerves to become damaged and eventually

die, which leads to muscle weakness and

loss of feeling. Therefore finding potential

treatments to improve nerve growth and

health is vital.

Dr Sahenk has spent many years developing

and testing NT-3 gene therapy. Her

research has shown it can improve nerve

health and function in an animal model of

CMT. In Sarepta’s press release, Dr Sahenk

said:

Gene therapy represents a potential

new pathway for the treatment of CMT

Neuropathy. We look forward to collaborating

with Sarepta, whose dedication to

those impacted by neuromuscular disorders

and to rigorous scientific exploration,

echoes our own at Nationwide Children’s.

A clinical trial to test the NT-3 gene therapy

is planned to start in 2019. Although the trial

will only be recruiting people with CMT

type 1A, the NT-3 gene therapy could potentially

treat other CMT sub-types and

muscle-wasting conditions. Further research

is under way to explore its potential.

https://www.musculardystrophyuk.org/

news/news/cmt-gene-therapy-trial-to-startin-2019/

Update on DMD gene therapy trial

By Sofia Nnorom

(Published date: 04/10/2018)

Sarepta Therapeutics has released an

update on the four boys dosed in its

ongoing gene therapy trial. The data

was presented by Dr Jerry Mendell,

the trial’s principal investigator, at

the World Muscle Society conference

yesterday.

Building on Sarepta’s previous data,

Dr Mendell shared results on the fourth

boy treated with the gene therapy

(AAVrh74.MHCK7.microdystrophin).

Like the other participants, he had a

significant increase in the dystrophin

protein and a reduction in creatine kinase

levels – a marker for muscle damage.

So far, there have been no serious

safety concerns reported for any of the

participants.

Dr Mendell also reported that all

four boys have shown improvements

in functional assessments (e.g. stair

climbing, standing up and walking

ability) compared to the start of the

study. Whilst these preliminary results

are very exciting and promising, it

should be cautioned that this study is

very small and has no controls.

Sarepta is now planning to conduct a

larger trial in the US – data from this

trial will be used to seek marketing

approval for the therapy. The company

is mapping ways to expand its clinical

program and will announce an update

once it finalises its plans.

In a press release, Doug Ingram,

Sarepta’s president and chief executive

officer said:

“The encouraging results that we

previously saw and reinforced in the

fourth patient strengthen our resolve

to rapidly move to a confirming trial

and, assuming successful, to bring

this therapy to the Duchenne community

around the world with a sense of

urgency.”

Article online at: https://www.musculardystrophyuk.org/news/news/updateon-dmd-gene-therapy-trial/

Pain-free and more effective: improving how we monitor SMA

By Andrew Mickel

Published 01/05/2018

Monitoring the progression of

muscle-wasting conditions is essential

to ensure they can be managed well.

If you have spinal muscular atrophy

(SMA), you may have experienced

a test called electromyography on a

clinical trial or during diagnosis. It

tracks the loss of motor units, the links

between the muscle and the nervous

system which are gradually lost for

people with SMA. But electromyography

can be both painful and it is limited

in how well it can monitor change.

And with treatments like Spinraza now

being developed, the need for effective

testing to ensure patients get the right

support at the right time has never been

clearer.

A new technique – discovered by

accident

A new research grant from MDUK will

help develop a technique using MRI

scanners to monitor motor units in a

pain-free and more effective way.

And like so many of science’s best

discoveries, it was found by accident.

Professor Andrew Blamire at

Newcastle University has spent much

of his research career trying to get

scanners to take new measurements.

But even he was surprised at the results

of a recent test.

31


Research

He said: “A few years ago we were

running tests using a technique that’s

generally used to measure the structure

of the brain. We were looking at

the muscles of those with Duchenne

muscular dystrophy, but when we got

back the scans, we found we had some

bad images.

“They were described by others we

were working with as ‘annoying artefacts’,

a problem with the data. But we

showed them to some colleagues who

specialise in neurophysiology, and that

was the Eureka moment – they told us

they were motor units.”

The MDUK research grant will fund

Prof Blamire to fully examine how

motor units could be monitored with

MRI, and how it can be translated into a

technology that can be easily deployed

for people with muscle-wasting conditions.

Crucially, the new technique could

also be used as a way to track loss in

clinical trials, helping to see how

treatments work and finding the best

ways to deploy them.

Questions that still need

answering

The new technique – dubbed by the

team as MUMRI, for motor unit

magnetic resonance imaging – holds

a lot of promise. Prof Blamire will

now look at taking the initial idea and

seeing if his team can turn it into something

workable by answering some key

questions.

To start with, what precisely did Prof

Blamire see in the scans? Were they

single motor units, or was it several

motor units firing at once?

And how exactly will the team be able

to isolate motor units to test them in a

systematic way that will be helpful for

clinicians? That second question could

involve some new kit being developed

so that individuals being scanned make

precise movements that can be examined

in a concise, systematic way.

Using existing technology to

tackle new problems

While we think of MRI scanners as

really large machines, there are some

scanners designed just for limbs. Prof

Blamire’s team will be looking to see if

a new type of scanner could be set up to

work in a clinic.

Says Prof Blamire: “The sense from

clinicians is that it would be great to

have it as a device in their clinic. It

could be a game changer for the way

we work – they say there’s been no

development in electrophysiological

techniques in the last 50 years.”

If a scanner can be built, it could have

use for any condition involving the loss

of motor nerves, or even the decline of

muscle function in ageing.

Dr Kate Adcock, Director of Research

and Innovation at Muscular Dystrophy

UK, said:

“We are in such an exciting time for

research into SMA. But to really get

the most from emerging treatments, we

need to understand how the condition

progresses and how effectively we can

manage it. This project is so exciting

because it makes use of existing technology

to do just that; it could mean the

end of painful existing techniques and a

new era in effective scanning. We look

forward to seeing the results.”

Article online at: https://www.musculardystrophyuk.org/news/news/painfree-and-more-effective-improvinghow-we-monitor-sma/

Thank you, ITV Networks for raising awareness about muscular dystrophy.

We are most grateful for your support.

32


Take a deep breath and cough … yes, you can!

“Breathing is the greatest pleasure in life” – Giovanni Papini

By Brenda Morrow & Anri Human

Taking a deep breath, sighing, yawning and coughing are

things healthy people don’t usually have to think about.

However, for people with neuromuscular diseases (NMDs)

it may become more and more difficult to breathe as the disease

progresses. They may also get frequent chest infections,

which could be severe, needing antibiotic therapy and sometimes

even hospital admission and ventilator support.

These breathing difficulties result from weakness of the

breathing muscles and a poor cough, as well as complications

like chest wall deformities which restrict breathing.

People with a weak, ineffective cough cannot properly clear

secretions from the lungs, which puts them at risk of more

recurrent infections and may eventually lead to chronic, permanent

lung disease.

The good news for people with NMD and breathing muscle

weakness is that a number of techniques can be used to help

them take a deep breath and clear secretions from the lungs.

These techniques may be performed at home by oneself or by

a physiotherapist and should be started as soon as the cough

becomes weaker.

A peak flow meter with a mask attached can be used to measure

the strength of the cough (Figure 1). The person is asked

to take a deep breath (as deep as possible!) and then cough

as hard as possible into the mask. The resulting air flow (the

peak cough flow) is then measured. If the peak cough flow

is under 160l/min it means the cough is not strong enough to

clear secretions from the lungs, and techniques to help cough

effectiveness should be done daily. When the peak cough

flow falls under 270l/min, it is time to start learning techniques

to improve cough effectiveness, because we know

that cough flow drops even further when you have infections

of the upper airways (like a cold).

Figure 1: Peak flow meter with mask attached for measurement

of peak cough flow (strength of cough).

There are different types of airway clearance techniques.

Some aim to move secretions from deep in your lungs to

the larger, central airways so they can be cleared easily from

there. Examples are percussions (when the physiotherapist

or caregiver claps the person’s chest with cupped hands); vibrations

(manually or using mechanical devices); and positioning

to drain secretions. These might be effective in moving

secretions, but without an effective cough none of these

techniques will lead to secretion clearance. Some breathing

exercise have also been developed to help clear secretions

(like deep breathing exercises, active cycle of breathing

technique, positive expiratory pressure (PEP) therapy, etc),

but these are not likely to work where there is severe breathing

muscle weakness, as people with NMD cannot take a

deep breath without assistance. These breathing exercises/

techniques can however be adapted to be done with ventilation

support (e.g. BiPAP), and your physiotherapist should

be able to advise you about this.

Other airway clearance techniques aim to clear secretions

from the large, central airways, and these are essential in

people with NMD and weak cough, usually after mobilising

secretions into the main airways. These are sometimes called

“cough augmentation” or “cough assistance” techniques.

There are different parts to a cough, and all are needed for the

cough to be effective. Firstly, you must be able to take a very

deep breath in, then close the vocal cords (glottis) at the back

of the throat to increase pressure inside the lungs, and then

rapidly force the breath out with an explosive opening of the

vocal cords with a cough. Depending on the type of NMD,

any or all of these components of the cough might be missing

and there are different techniques that can help.

1. Helping the person to take a deep breath (inspiratory support)

can be used to improve their ability to cough and expand

the lungs, similar to when healthy people yawn or

sigh. Techniques include the following:

a. Manual insufflation – Air is actively pushed into the lungs

using a self-inflating bag with either a mask or a mouthpiece;

or insufflation can be done by adjusting the BiPAP

or ventilator settings. The bag should be the right size so

you don’t push too much air into the lungs, which can

cause damage. Your physiotherapist or doctor should be

able to advise on what size bag you should use. These bag/

mask kits are readily available and fairly inexpensive in

33


South Africa.

b. Breath stacking

i Spontaneous breath stacking: The person takes a breath in

and traps the air (holds their breath), and then takes another

breath, traps the air and so it continues until the lungs are

“full”, after which a cough can be performed independently

or with assistance. This technique is useful because it can

be done independently, without the need for a second person.

An example of this technique (without a cough) is given

at https://www.youtube.com/watch?v=JlgeRoI5vCw.

ii Manual breath stacking: Breath stacking can also be done

using a self-inflating bag and mask/mouthpiece. The

mouthpiece is placed in the mouth or the mask is placed

over the mouth and nose. Multiple breaths are applied with

the bag and “stacked” onto each other with glottic closure

between each breath or (if glottic closure is a problem), a

one-way valve can prevent air flowing out back into the

bag. Once maximum expansion is reached, the person can

either cough themselves or have a supported cough (with

the assistance of a parent/caregiver). An example of this

technique used by a gentleman with ALS is available at

https://www.youtube.com/watch?v=I3YGh6bVsQM.

c. Glossopharyngeal or “frog” breathing: Air is forced or

gulped into the lungs using the mouth and tongue muscles.

This technique has the advantage of being able to

be performed independently. A video of glossopharyngeal

breathing is available at: https://www.youtube.com/

watch?v=9OswSaTG71I.

2. Helping to breathe out (improving cough flow):

a. Manually assisted cough (MAC): Cough flow is accelerated

by applying an external pressure on the person’s abdomen

and/or chest wall (Figure 2) during the expiratory

phase of the cough. A second person is needed to perform

a MAC.

pressure to actively and quickly suck air out of the lungs,

thereby simulating a cough. There have been reports that

MIE is effective and safe, but care must be taken to start

with low pressures so as not to damage the lungs, especially

for young children. A demonstration is given at https://

www.youtube.com/watch?v=M--uuDpGxMM.

All these cough clearance techniques have some precautions

or contraindications, and some are more widely available in

SA than others, so it is important that an experienced physiotherapist

first assess every person and together decide which

technique would be the most appropriate. Some techniques

can be done independently and others need a second person,

and this must also be taken into account when making a decision

about which technique to use, according to individual

circumstances.

What is happening in South Africa?

(Local is lekker!)

Cough augmentation

A recent survey revealed that most South African physiotherapists

prefer using MAC for cough assistance in people

with NMD. They still prefer traditional airway clearance

techniques like percussion and vibrations, and very few use

breath stacking, glossopharyngeal breathing or MIE. We are

currently working to improve physiotherapists’ knowledge

and skills in airway clearance for people with NMD through

workshops, educational newsletters and publications.

Inspiratory muscle training (IMT)

Previously (December 2017) we reported that there was an

on-going study in Gauteng and Cape Town to determine the

effect of IMT on lung function, cough effectiveness, lower

limb and upper limb function/coordination as well as quality

of life. In total 23 children between the ages of 8 and 18

years participated, and this study was completed at the end

of October 2018. The preliminary analysis shows that the

participants significantly improved their inspiratory muscle

strength and their ability to cough!

Watch this space for news of the final results of this study!

For further information or any queries, please contact us at

anrihuman@gmail.com (Gauteng), 012 521-4047, or brenda.

morrow@uct.ac.za (Cape Town).

Figure 2: Manually assisted cough demonstration on a

dummy.

3. Helping with both inspiration and expiration (breathing in

and out)

a. Combining one of the inspiratory support techniques with

an MAC is very effective; an example is presented at

https://www.youtube.com/watch?v=B_zJbMRuZT4.

b. Mechanical insufflation/exsufflation (MIE) or “CoughAssist”:

This is a fairly expensive machine that pushes air

into the lungs (through a mouthpiece/mask/tracheostomy

tube) and then rapidly switches to a negative (vacuum)

Selected resources and recommended reading:

Chatwin, M., Toussaint, M., Goncalvez, M.R. et al. (2018).

Airway clearance techniques in neuromuscular disorders: A

state of the art review. Respiratory Medicine, 136: 98–110.

https://doi.org/10.1016/j.rmed.2018.01.012

Morrow, B.M., Zampoli, M., Van Aswegen, H. & Argent,

A.C. (2013). Mechanical insufflation–exsufflation in people

with neuromuscular disease. The Cochrane Library, Dec 30,

12: CD010044.

Toussaint, M., Chatwin, M., Gonzalez, J. et al. (2018). 228th

ENMC international workshop: Airway clearance techniques

in neuromuscular disorders, 3–5 March, 2017, Naarden, the

Netherlands. Neuromuscular Disorders, 28: 289–298. https://

doi.org/10.1016/j.nmd.2017.10.008

34


Our Voices – Our Life

Experiencing Myotonic Dystrophy around the World

Hello

Like you, I live with Myotonic Dystrophy (DM1). I am also the facilitator

of the largest support group for individuals living with the DM in

Switzerland and an active member of several DM Community

Organizations throughout Europe.

As a support group facilitator, I have heard many very personal stories. I have heard people

speak from their hearts about their experiences with this disease and their happiness to

finally meet someone to whom they do not need to explain what our frequent tiredness feels

like. I also feel the need and, often, the joy of people living with DM as they share what they

have learned on their journey with Myotonic Dystrophy.

Each one of these stories is important. Each one of them can help others to find

comfort, understanding, motivation, and advice.

As part of my life’s work, I am trying to connect the international DM community. Yet, in our

multilingual world, this exchange is often difficult because of language barriers. Together

today, you and I can break through the language barrier and help build a truly worldwide DM

community.

Here is how. With the assistance from contributors from the international DM-Community, I

have designed a website at

www.dm-voices.com

On this website, we invite you to share your personal story of living with Myotonic Dystrophy.

Your story will be translated into more than ten languages and DM-affected individuals

around the globe can find new inspiration in your experience.

From the submitted stories, an illustrated book will be developed, copies of which we will

provide in three languages to interested DM Community Organizations around the world. The

distribution of this book via the information channels of these organizations will be

coordinated in time with a Project Celebration in Basel, Switzerland. This Project

Celebration will involve all DM Community Organizations and all DM-affected individuals

participating in this project.

Share your story with us! Share it with the whole world and help us to send a wave of

awareness, support, and community to those living with Myotonic Dystrophy.

Best wishes,

Erich

Erich Maurer & Andreas Herzog, kontakt@myotonie.ch

in collaboration with

sponsored by


THE THREE PHASES OF ME

By Hilton Purvis

We often chat with friends about how, over time, one's views

on matters change. Things which used to upset us in our

youth just wash off one’s back today, or vice versa! It got

me thinking about matters which used to "push my buttons"

in years gone by, and those which do so today, and how my

attitudes have evolved over time. I found that I could see

my life in three distinct phases, the "freedom fighting", the

statistics, and the acceptance.

I use the term freedom fighter carefully, because although we

were never actively militant, we were fighting for freedom

in our society in the 1970's and 1980's. Back then there were

no disabled parking bays, no PAUs at airports, no ramps, no

disabled toilets. In short, nothing which would have warranted

sticking the little blue international wheelie man symbol

onto. The mindset of the time was very much that we should

be staying at home or living in institutions, being looked after.

My middle years, the 1990's, became the "statistical" years.

The years of adding up the new facilities which were slowly

becoming available. Adding up how many new disabled

people I saw out and about in town, attending a sports game,

or working in a company. These were the times of the access

committees, the independent living centres, the amakrokokroko,

and the beginnings of employment equity. Doors were

opening, albeit on the periphery, and increasingly disabled

people were visibly living independent lives.

Of late, I have to admit to entering a phase of "acceptance",

but I am not a person who naturally accepts things. I believe

we are well short of where we should be as a disabled community.

My acceptance is therefore that we have not achieved

the level of integration into society which we should have. It

also means that where I should be entering a phase of calm

and tranquillity, the whole rocking chair on the stoep thing,

I am still having my buttons pushed. It also takes something

away from the previous two phases. I'm left wondering

where we went wrong in the freedom fighting, and just what

we were really doing during the statistical period.

I think one of the mistakes we made in the 1990s was in

adopting the belief that if we could show society that

disabled people could live independently it would gain

momentum and build steadily and progressively on the initial

breakthroughs that were being made. We also believed, falsely,

that civil society would do the right thing, see the light,

and increasingly break down the physical barriers which we

face every day (transport, parking, access, etc). Along with

that we thought that there would be greater inclusion for s

disabled individuals in schooling and education, employment

opportunity, etc but this has also fallen far short. We

never really made any inroads into the architectural industry,

which is so important to our infrastructural independence.

Coupled with this is a representational shortcoming in the

development and construction industries and, saddest of all,

in the field of education (schooling, colleges and universities).

Perhaps during the "statistical" period of the 1990s we also

became so preoccupied with notching up little victories that

we lost sight of the greater battle plan. We also allowed ourselves

to become fragmented, with no coordination and with

the individual disability groupings looking after their own

interests. Whilst there is nothing intrinsically wrong with this

concept it does open the door for a loss of momentum and

focus, which is what has happened.

However, I do believe that during this "statistical" period

we fell right into the statistical trap and allowed ourselves to

accept a quota system. We are now expected to accept that

only 10% of hotel rooms might have an accessible bathroom,

or 5% of employees might have a disability. This has come

back to hurt us. If we are to make any further development,

quotas such as these need to be eradicated as soon as possible.

Everything should be accessible. Every single school

should be able to accept disabled learners. Every job should

be available to disabled individuals.

The hope that people would join us in our quest for freedom

voluntarily has not materialised. In the 1990s I firmly believed

that we needed willing participants rather than ones

who had been coerced into meeting our needs. I was mistaken.

These days, in my acceptance phase, I believe that legislation

is the only way we are likely to make any progress.

Unfortunately, in that regard we do not seem to have made

any real headway either, and existing legislation is really just

words on paper, without any real teeth. I have yet to hear

of a building construction being stopped because it did not

provide disabled access.

It seems that society has been distracted from the initial

goals. From an enlightened and promising start in the 1970s

and some strong development in the 1990s, our quest has lost

momentum with the result that the disabled community has

fallen behind in terms of gaining their educational, employment

and financial freedom. At this stage in my life I have to

accept that we have fallen short of our aspirations; the real

problem, however, is that acceptance doesn't sit well with

me.

36


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 national@mdsa.org.za.

What are muscular dystrophies?

Muscular dystrophies are a large group of muscle diseases that cause progressive loss of muscle strength and

also loss of muscle bulk. The different conditions vary widely in their age of onset, from infancy to adult life. They vary in their rate of progression, their

severity, which muscles are primarily involved and their genetic inheritance patterns. Both males and females can be affected, although some muscular

dystrophies predominantly affect males. Although muscular dystrophies affect family members in a broadly similar way, there can still be significant

differences between individuals. It is thus important to try to reach an exact diagnosis as it influences prognosis, management and genetic risk.

How does muscular dystrophy present?

People with a muscular dystrophy often report progressive weakness and difficulty with movements or tasks they were previously able to perform.

Fatigue is a common feature. Initially the weakness may appear more severe on one side of the body, although typically both sides are involved. The

weakness may begin in different ways in different individuals. Individuals may report muscle pain as a presenting or accompanying symptom. As some

muscular dystrophies involve the heart muscle, a diagnosis of a cardiomyopathy may be the first indication of a muscular dystrophy.

How are muscular dystrophies diagnosed?

Diagnosis relies primarily on clinical assessment by an experienced doctor, typically a neurologist. The diagnosis may require additional blood tests,

muscle investigations – including electromyography (EMG), or muscle biopsy to narrow down the exact diagnosis. Genetic testing has advanced in

recent years and a specific genetic test or a broad test looking for a genetic fault in a few 100 genes simultaneously may assist in identifying the exact

causative genetic fault and thus the precise diagnosis.

Are all neuro-muscular disorders genetic?

Not all neuro muscular disorders are genetic. It is important to distinguish non-genetic causes from genetic ones, as the management and treatment

may differ dramatically. Any neuro-muscular disease should be fully investigated by a neurologist to ensure that the individual receives the most

appropriate management.

Can muscular dystrophy be prevented?

If a muscular dystrophy is known to occur in a family, there are genetic tests available which can predict with high accuracy which other family

members are likely to be affected. This is important as individuals at risk can be identified and managed from as early an age as possible. Although

early management does not prevent disease, it may improve the period of time during which the individual is able to maintain good function. In

addition, if parents know that they are at risk of having a child with a muscular dystrophy, either because of their family history or because they have

had a previous affected child, it is important that they discuss their options with a genetic counsellor. Prenatal testing can identify an affected fetus as

early as 12 weeks of pregnancy. Preimplantation genetic diagnosis is an option whereby parents can test embryos after in vitro fertilisation and only

implant unaffected embryos in the uterus in order to achieve a healthy pregnancy.

Doctor’s

What treatment options are currently available?

No single treatment is available for all muscular dystrophies. No cures are currently available either and people with muscular dystrophy should be

aware of unrealistic claims made by companies or individuals. Broad principles do apply in management. It is important that people with muscular

dystrophies try to maintain their strength and mobility as much as possible. It is helpful to work with a biokineticist who can advise on appropriate

exercises. Aggressive exercise is discouraged but aerobic gentle exercise is encouraged within the individual’s capability. Increasingly specific treatments

are becoming available which allow for extended periods of improved functionality. These treatments are specific to the genetic condition and

often to the exact genetic fault or type of genetic fault.

What can I do to help a friend or family member diagnosed with a muscular dystrophy?

People with muscular dystrophies need to be supported through their disorder. It can be very frustrating for someone to lose previous abilities. Friends

and family should try to ensure that they are referred to the appropriate support services to ensure that they maintain optimal function and get the best

possible management. Referrals include medical professionals, allied health professionals, including psychologists and genetic counsellors. Support

groups such as the Muscular Dystrophy Association can assist in directing individuals to appropriate services. They also provide contact with similarly

affected individuals.

37


Sandra’s thoughts on…

Time – the best gift you can give someone

By Sandra Bredell (MSW)

“The greatest gift you can give someone is your time.

Because when you you’re your time, you are giving a

portion of your life that you will never get back” (author

unknown).

According to Frank Weil (2013), all of us have our own

sense and understanding of “time”. It may reflect a very

good experience we had or the frustration experienced

when waiting on an answer or outcome of a particular

situation. Although we can all associate with these kinds

of experience, no one really knows where the concept

actually comes from. We understand that there is a yesterday,

today and tomorrow and that if time is lost you

can never get it back and therefore time needs to be

spent wisely. This can be seen as one of the principles

of life. But as Mr Miyagi stated in the movie, Karate Kid,

“I think you know the principles. Everyone does. But

99% of all people don’t do what they know” (Foroux,

2016).

We also know that time is very important to human beings

and plays a significant role in our lives. We need

to really value and respect time, for as the saying goes,

“time and tide waits for none”. Mother Teresa agreed

by saying, “Yesterday is gone. Tomorrow has not yet

come. We only have today. Let us begin” (Bhalla, 2017).

Volunteering your time to an organisation that renders

a service to the community, to a neighbour, friend, colleague

or family member indicates that these people

are important to you and therefore you want to give

them the gift of time. This gift is a part of your life which

you are giving away. We should give more than we

take. Life is not about taking but all about what we are

giving. “We make a living by what we get; we make a

life by what we give” – Winston Churchill (Santi, 2017).

You will be surprised by the fact that the more you give

to others, the more you will receive. And here I am referring

to time. We should rather think about what we have

to offer than what we want from the world. “The effect

you have on others is the most valuable currency there

is” – Jim Carrey (Foroux, 2016).

But when you give your time to others, you benefit a

great deal yourself. Research has proved that helping

others is a fundamental part of humanity. People are

helping others at soup kitchens, welfare organisations,

children’s homes; and then there are others who assist

the community in case of a fire, natural disasters

and crime. According to a study done by Professor

Michael Norton (Harvard Business School), giving of

your time to others, makes you feel good; and a professor

of psychology at the University of California, Sonja

Lyubomirsky, saw similar results when she asked people

to perform five acts of kindness each week for six

weeks (Marsh & Suttie, 2010). To see a smile and eyes

filled with joy definitely makes it all worth it.

So next time you are wondering about what to give to a

friend or family member, consider the gift of your time.

Offering your time to do something for them or to spend

time with them is the best gift you can give.

References

Bhalla, S. 2017. “Importance of time…”. My Edu Corner.

http://www.myeducorner.com/importance-time-essayspeech-article/.

Foroux, D. 2016. “7 principles of life that everyone

knows, but only a few follow”. Updated 2017. Huffpost.

https://www.huffpost.com/entry/7-life-principles-everyone-knows-only-few-follow_b_11318702.

Marsh, J. & Suttie, J. 2010. “5 ways giving is good for

you”. Greater Good Magazine. https://greatergood.

berkeley.edu/article/item/5_ways_giving_is_good_for_

you.

Santi, J. 2017. “The secret to happiness is helping others”.

Time. http://time.com/4070299/secret-to-happiness/.

Weil, F.A. 2013. “The meaning of time”. Huffpost. Updated

2014. https://www.huffingtonpost.com/frank-aweil/the-meaning-of-time_b_4351464.html.


Family picnic at the Urban Park

Cape Branch

On 1st September we hosted our

annual family picnic for affected

members and their loved ones.

We spiced things up this year by

hosting an outdoor treasure hunt.

What fun it was for both children

and adults to explore the park to

hunt down clues and fun goodies.

Thereafter, we all celebrated

awareness month together and

shared a lovely picnic. Many

thanks to everyone who came out

to spend this special day with us,

and to Mrs Gilda van der Merwe

for planning and facilitating the

event.

IN MEMORIAM

It is with great sadness that we bade farewell to Mr Basil Lerer on 10 July 2018. Our sincere

condolences to his family. You are in our thoughts. It’s always too soon to say goodbye.

It is with very heavy hearts that we said goodbye to Vuyolwethu Stuurman on 12 June 2018. Our

sincere condolences to his family. We loved to see his gentle smile at our visits to Tembaletu School.

Our deepest condolences to the Grobbelaar family on the passing of their daughter, Chante, on 26 July

2018. Your family is in our thoughts.

Condolences to family and friends. Ed.

39


Cape Branch

Grand West children’s outing

On Wednesday 5 September 2018 our MDF children

from Astra School enjoyed a fun day at our annual Grand

West outing. We kicked off the day with a lovely brunch at

Wimpy. Afterwards, the group got to go bowling and play

arcade games at the Magic Company. What a joy it was to

watch the faces of our MD children enjoying the thrill and

excitement of all the activities on the day. This was once

again a wonderful fun-filled day to remember, and each

child returned home with a lovely goodie bag.

Special thanks to Reach for a Dream for funding the lunch

and for joining us on this special day, and to Mandy and

Lawrence Green for funding the tokens. Also, thank you

to Astra School for arranging for the children to be safely

transported to the venue with staff to assist the children

on the day.

40


Cape Branch

Awareness events

The Cape Branch’s social service team conducted six different awareness

campaigns during the last quarter. Many thanks to the schools, community

centres, NPOs and clinics that hosted us. We greatly appreciate the

opportunities to share information about muscular

dystrophy within our surrounding communities.

Pictures from APD Tygerberg

Awareness Event and van Riebeeck

Strand Primary School.

Annual Golf Day

A sincere thanks to the Goodwood Rotarians and Judy Bird for

assisting in making a huge success of this event, held on

12 October. A word of special thanks to Sanjay Narshi and

Anne-Marie Stoman for their great support at the event.

The National Lottery Commission

We are very grateful for the funding received from the National

Lottery Commission. We were able to purchase three motorised

wheelchairs, two Bi-Pap machines and several cushions and

mattresses, and to refurbish another B-Pap machine .

A picture of 2 of the recipients of the wheelchairs purchased.

41


Gauteng Branch

Muscular Dystrophy Campaign

SMS and stand a chance to win 1 of 3 Voyageur Schwinn bicycles

The Blue Bottle Group has a team of cyclists that cycled with our logos

on their jerseys at the Telkom 947 Cycle Challenge on 18 November

2018. Additionally, the Blue Bottle Group bought three bicycles and is

running an SMS campaign whereby, at a cost of R30 per SMS, people

can stand a chance to win one of the bicycles. The campaign will run until the end of December 2018.

Please support people affected with muscle-wasting conditions by SMSing your name and email address to

42351 and stand a chance to win 1 of 3 Voyageur Schwinn bicycles valued at R6 500 each.

Muscular Dystrophy Foundation Gauteng wishes to thank the Blue Bottle Group and everyone who supports

our cause!

New wheelchair for sale

Please contact Lindsay Walsh on cellphone number 0834692877

if you would like to buy this brand new wheelchair for R60 000.

42


Gauteng Branch

Donation of a vehicle

We would like to thank the Talia family for donating

a Chrysler Voyager with motorised lift to us. The

vehicle is a great help, especially in transporting the

General Manager on a daily basis.

Nazier and Fatima Talia have been very good to

us over many years and we wish to thank them

sincerely for the great donation. We are most grateful

for their support and willingness to help when needed.

Pictured: Robert Scott, Fatima Talia and

Pieter Joubert

Ezibeleni School outing

On 6 September, MD learners from Ezibeleni School

went for an outing to East Rand Mall. They were

treated to lunch at Mugg & Bean, where they had

a choice of folded fillers, toasted sandwiches and

something to drink. They enjoyed the outing very

much.

Ithembelihle School outing

On 26 September, MD learners from Ithembelihle School were taken on an outing to East Rand Mall, where they

were treated to lunch at Panarotti’s. They had monster pizzas and something to drink for 21 people.

43


Gauteng Branch

Special delivery at

Pretoria School

Learners living with muscular dystrophy were

treated with gifts on Wednesday 31 October

2018.

The learners are all part of the muscular

dystrophy group which is run by the school

physiotherapist and the school Social worker

at Pretoria School. I, the muscular dystrophy

social worker does group sessions with them

once a month. The learners were very happy

to receive gifts from the Foundation.

Lionel Smook surprised with

CE Power Chair

We could not find parts for my old wheelchair, and

our social worker, Mulanga Kharidzha, told me that

there was a waiting list but they would try their best

to help as soon as funds became available.

On 31 October, staff from the office surprised me and

handed over the wheelchair. I would like to thank the

Foundation and Muscle Riders for assisting me with

a power wheelchair.

Thank you for helping all our members with

specialised equipment.

(Pictured: Mulanga Kharidzha, Pieter Joubert, Lionel and Rina Smook)

Photography/Videography

• Annual reports • Golf days

• Awards

• Entertainment

• Conferences • Team building

• Product launches

info@strikeaposephotography.co.za www.strikeaposephotography.co.za

Call: Dee-Ann 082 412 9650

44


Our son Matthew Wilson

By Cindy Frantzeskos

We were very privileged to have had a son like a Matthew. I want

to tell you about the remarkable young man he was.

Matthew was born with Duchenne muscular dystrophy, but he

never used his disability as an excuse for anything. He never

even allowed me to park in the disabled parking – gotta love that

one.Everyone who knew Matthew had some special moments

with him. For me there were many along the way. There is a song

that Matthew and I used to sing in the car on the way home when

he was a toddler. “You are my sunshine, my only sunshine. You

make me happy when skies are grey …

Matthew was and always will be my sunshine. He was one of

those rare human beings whom everyone loved. His smile could

light up a room and he had beautiful sparkly eyes. He had a dry

sense of humour, and he loved to joke with his group of close

friends and of course his family. He nicknamed my brother “Victor

DJ skip skip” – for obvious reasons.

I must say he was also fortunate to have cousins whom he was close to and who spent time with him. He was also adventurous

and embraced life despite his illness. He could put able-bodied people to shame. If I look back over the years, to

when he was still able to walk, he would run races and be the last one running but with a huge smile on his face, waving

at us. At the age of 11 years he went into a wheelchair, still living life as only he knew how.

Matthew once won a four-wheeled motorbike in a competition (I was not even aware that he had entered – his Gran had

posted the letter). We spent many weekends at the race track. He would be lifted on to the motorbike, and although he fell

off many times and broke some bones, he was right back on again the next week. He then sold his motorbike and bought

a boat! This was while holidaying in Plettenberg Bay, where he made many friends.

One day Matthew went paintball shooting, and when he came back he said it was one of his best days ever – never mind

all the bruises!

He also went white water rafting in Parys with Kyle, one of his closest friends, and the organisers were super impressed

at his determination. They would sometimes camp in our back yard in a tent, but this was 5-star all the way – with TV,

PlayStation, everything in that tent.

Matthew loved to play 30 Seconds and of course his PlayStation. He also loved music, all types of genre – from Robbie

Williams and Queen to Eminem and Ed Sheeran – and he would sing along.

Matthew loved to watch movies and he always chose ones that had a life lesson – except for Harold and Kumar. He loved

Superman and obviously Wonder Woman, but Batman not so much (a rich man with gadgets).

Matthew also loved the Manchester United soccer team. Where this comes from I have no idea. He was fortunate to go to

Old Trafford and watch them play. When they came to South Africa he met the entire team, shaking hands with everyone,

from Sir Alex Ferguson to Wayne Rooney and John O Shea. In fact he made us wait from 9 in the morning until 10 that

night at the Palazzo Hotel to get all their signatures.

He also loved fast cars and was given opportunities to drive in many – Maserati, Lambhorghini, Ferrari, McLaren, Audi R8.

He also raced around Kyalami and met Kerry McGregor and Baby Jake, among others.

He loved going out and would “organise” tickets to Prime Circle and Black Eyed Peas. I remember a long road trip to Sun

City with a bus full of family and friends. His last outing would have been to Comic Con – he had booked those tickets

months in advance, but life had other plans for him when, on 15 September, he left us to go on his next journey ….

In his last few days Matthew decided to stay home in bed. - I don’t know how he found the courage to say to the doctor, “I

don’t want to be on anything mechanical”. It broke our hearts, but as he said, he had had a good life.

Your wings were ready but our Hearts were not. You are our hero and we will never ever forget you, Matthew!

It is always too soon to say goodbye! Our sincere condolences. Ed.

45


KZN Branch

A huge thank you

Muscular Dystrophy Foundation KZN Branch are most grateful

for the support and wish to express our sincere gratitude to all

our donors for their sponsorship and donations, as well as to

all our members who have been a tremendous support to KZN

Branch.

Your generosity is greatly appreciated by the executive committee,

staff and volunteers of the MDF KZN Branch.

Casual Day 2018

The Muscular Dystrophy Foundation KZN Branch sold 2 793 stickers

and would like to sincerely thank the following volunteers, schools and

companies that assisted us in our Casual Day sticker sales:

Mercedes-Benz, Riverhorse Valley; Reutech Communication management

and staff; Cathy Khoon Khoon and family; Nedbank Kingsmead

Phase 2; Mrs Bhanjee and family; SA Homeloans, La Lucia; Effingham

Primary School staff and pupils; Effingham Secondary School staff and

pupils; U & G Fabrics, Overport, Durban; Parmalat; St Raphaels School

staff and pupils, Montclair; Mason Lincoln Special School staff and pupils;

Mobility Solutions; Briardene, Durban North; New Frontier Tours,

Westville; Kandice Govender and family; Netcare, Kingsway; Weziwe

Magoso; 45th Engen, Sherwood; Namitha Chabilal from Inkosi Albert

Luthuli Central Hospital and her team; Neil and Duane Goldstone.

Thank you once again for your support and assistance in the sale of stickers. We look forward to your assistance,

support and contribution again next year!

Annalie Harris is selling this Motorised Shopping Scooter with trailer, battery charger and user manual. Price is R25 000, however

Annalie is open for negotiation. For more information, contact her at 084 370 5477.

FOR SALE

46

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