MDF Magazine Issue 54 December 2017

chikadee

Summer Issue 54

December 2017

R25.00 incl. VAT

A little boy with big dreams

“Oomies se Road Trip”

Just live! So says

Anne-Marie

Muscular dystrophy

awareness run


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Magazine

05 MDF notice board

06 National news

07 MD information

26 Health news

MD INFORMATION

07 Congenital muscular dystrophy

10 Emergency alert cards

Events

14 Make Today Count Tandem Skydiving 2017

15 Muscular dystrophy awareness run

15 “Oomies se road trip”

People

16 Just live! So says Anne-Marie

18 Iman Casoojee

20 Tribute feature: Patrick John Artman

21 Ride London: Barbara’s story

22 Exondys 51: the Roe family’s story

23 Ella and her ‘cheeky feet’

Regular Features

28 The View from Down Here

29 Doctor’s corner

30 Sandra’s thoughts on …

Research

24 Dystrophin mutation in Duchenne mouse model

25 Myotubular myopathy gene therapy trial

25 Bone health in people with FSHD

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

Printer: Qualimark Printing

Cover photo of Ludick Fouche courtesy

of Angelos Frantzeskos.

Future Issues:

April 2018

(Deadline: 2 March 2018)

The Muscular Dystrophy Foundation

of South Africa

We are a non-profi t 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

I was diagnosed with FSHD in my early twenties and have been using a wheelchair

for 16 years. It was difficult to accept in the beginning but after a while you

realise that you cannot change anything and a wheelchair makes a huge difference.

It takes a lot of energy to shower, get dressed, eat, move around. I don’t

complain, as there are many people in worse situations than I am. I try to do as

much every day as I can. l try to stay positive and see the other blessings in my

life, but it's hard not to wonder “what if...?” or “why did this happen to me?” It's

a slowly progressing disease, but it's a very traumatising, suffocating disease

at the same time.

When I was diagnosed the only thing I thought of was the possibility that researchers

would soon fi nd a cure. As time went by I realised this was not going

to happen, but I still pray and believe that a cure will be found in the near

future.

I did not want to meet other people, but after I was invited to a meeting by Tina de Vente, who was

working at the MDF offices at the time, I decided to meet with other affected members. After meeting parents

of children diagnosed with Duchenne muscular dystrophy, my outlook changed. I realised it was selfi sh of me

to think a cure should be found for my own condition and not to be as concerned about all the other conditions

as well.

I realised there were many people and families who needed help and the foundation should include and reach

out to everybody affected by muscle diseases. Over the years I have met and become friends with many affected

people and families. Families affected by muscle-wasting conditions are experts in what it means to live

with these different conditions, and it is important that they share information and support each other.

In this issue you will read of personal stories and awareness events. As usual you will also fi nd MD information

and research articles.

Thank you to everybody who has supported our foundation over the years. For those who are able to make

donations, we thank you from the bottom of our hearts.

Warmest greetings of the season, and best wishes for good health and happiness in 2018.

Until next year!

Regards

Pieter Joubert

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 email 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 National Office by email 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

General Support Group Gauteng

East Rand

Zigi Potgieter

Cell: 082 499 9384

E-mail: z.kerstholt@gmail.com

Duchenne MD

Cape

Win van der Berg (Support Group)

Tel: 021 557-1423

Penny Cato

Tel: 021 671-8702

KZN

Maxine Strydom (Support Group)

Tel: 031 762-1592

Cell: 083 290 6695

Gauteng

Jan Ferreira (Support Group – Pretoria)

Tel: 012 998-0251

Estelle Fichardt

Tel: 012 667-6806

Christine Winslow

Cell: 082 608 4820

Charcot Marie Tooth (CMT)

Hettie Woehler

Cell: 084 581 0566

E-mail: hettie@leefvoluit.co.za

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

Spinal Muscular Atrophy (Adult

SMA)

Justus Scheffer

Tel: 012 331-3061

E-mail: justusscheffer@gmail.com

5


National

What’s stopping you?

By Gerda Brown

Muscular dystrophy is physically destructive, but challenges can be greatly alleviated

with assistive devices, support aids, surgery, physiotherapy, etc. It is the psychological

and emotional issues related to physical disability that cause the main challenges. When

people receive a diagnosis of muscular dystrophy, many adjust to it healthily and cope

well but others do not. Feelings of hopelessness, social isolation, frustration and depression

are all very common. The emotional wellbeing of a disabled person is incredibly

important. Several types of interventions may be implemented to achieve wellness, such

as therapy, counselling, support, etc.

Many times, when we hear the word “support”, our minds go straight to formal programmes or services. This is, however,

not always what support means. Support sources can provide assistance in day-to-day needs, provide much needed information,

and provide comfort and assurance that you are not alone.

It is with this in mind that MDFSA created a private social group for adults who share the bond of muscular dystrophy. The

support group is based on Facebook and currently has 29 members. Facebook calls it a secret group, and only members will

be able to view the content so as to ensure privacy and confidentiality.

One of our members put it so eloquently: “It's amazing what beautiful difference little support can make, even just a few

encouraging words from someone who cares. It makes your struggle less difficult but no support makes you feel like you

left behind. So let's support each other, in deed, word and prayers.”

If you would like to join us on the group, please leave a message on the Muscular Dystrophy Foundation of South Africa

Facebook page. I will gladly add you as a member. I look forward to chatting to you soon.

Did you know?

Alfredo Ferrari (1932-1956) was an Italian automotive

engineer and the first son of automaker

Enzo Ferrari. Alfredo was nicknamed Dino. He had

Duchenne muscular dystrophy and died at the age

of 24. After his death the Ferrari ‘Dino’ was fitted

with the engine that Alfredo was working on and

Enzo Ferrari named the car in honour of his son.

From an early age Enzo groomed Alfredo to be

his successor. Alfredo studied economics in

Bologna before moving to mechanical engineering

in Switzerland. Over time, it became clear that

something was wrong. Doctors had no idea what

was afflicting him and he only managed to complete

two years of his engineering education before

returning to Modena.

In his short career at Ferrari, Alfredo was credited

for the 750 Monza racing car and to a limited

extent a 1.5-litre V6 that would later see action in

Ferrari’s early Formula racers. Alfredo suggested to

his father the development of a 1.5 L DOHC V6 engine

for F2 at the end of 1955. Twelve years later,

to honour his son, Enzo named the Dino series of

road and racing Ferraris using this V-6 engine after

him.

6

Alfredo had Duchenne muscular dystrophy. In the

final days of his life, while hospitalized, he discussed

technical details of the 1.5-litre V6 with

fellow engineer Vittorio Jano. Alfredo would never

see the engine, he died in Modena on 30 June 1956

at the age of 24. ...

The Autodromo Dino Ferrari in Italy is also named

in Alfredo’s honour, with his father’s name added

after Enzo Ferrari’s death in 1988.

Article from the website of Concours D’Élégance,

Paleis Het Loo, at: http://www.concourselegance.

com/alfredo-dino-ferrari-died-from-duchenne-muscular-dystrophy-60-years-ago-2/


Muscular Dystrophy Association, America

https://www.mda.org/disease/congenital-muscular-dystrophy

MD

Congenital Muscular Dystrophy

What is congenital muscular dystrophy

(CMD)?

Congenital muscular dystrophy (CMD) refers to a group of

muscular dystrophies that become apparent at or near birth.

Muscular dystrophies in general are genetic, degenerative

diseases primarily affecting voluntary muscles. Babies with

congenital muscular dystrophy are weak at birth and may

have breathing or swallowing difficulties.

Types of Congenital MD

At least 30 different types of CMD are now recognized. At

first glance, the various types of CMD seem to have little in

common other than their early onset. But on the molecular

level, the types can be grouped by how their faulty protein

affects cells.

A very small group of CMDs are linked to proteins that affect

what happens inside muscle fibers, affecting how the fibers

process signals from the nervous system, for example, or

how they handle calcium.

But the vast majority of CMD types are related to proteins

that make up or interact with the extracellular matrix that surrounds

muscle fibers.

Several types of CMD that arise from gene mutations that

initially seemed unrelated now appear to be related to defects

in proteins that "sugar-coat" (glycosylate) a matrix protein,

allowing it to connect with other proteins.

The extracellular – outside the cell – matrix is the substance

that surrounds the cells of a tissue, such as muscle, providing

physical and biochemical support.

An important role of the matrix around muscle fibers is force

transmission. For a muscle to pull against bones, it needs to

have contact with something that transmits force from the

muscle fibers onto the tendons and bones. When all is going

well, the matrix transmits that force, as well as chemical signals

that muscles need to stay healthy.

The matrix is a key supporting structure for the survival and

regeneration of muscle. When cells lose touch with their surrounding

matrix – as happens in most types of CMD – trouble

follows.

Signs and Symptoms

CMD can cause contractures in the wrists, ankles and other

joints.

The term congenital muscular dystrophy (CMD) is actually

the name for a group of muscular dystrophies united by the

fact that muscle weakness begins in infancy or very early

childhood (typically before age 2). Congenital diseases are

those in which the symptoms are present at or soon after

birth.

Most children with CMD exhibit some progressive muscle

weakness, although they can have different symptoms, degrees

of severity and rates of progression.

This weakness, usually first identified as hypotonia, or lack

of muscle tone, can make an infant seem “floppy.” Later,

infants and toddlers may be slow to meet motor milestones

such as rolling over, sitting up or walking, or may not meet

some milestones at all.

Some of the rarer forms of CMD are also accompanied by

significant learning disabilities, or mental retardation.

What causes congenital muscular dystrophy

(CMD)?

It isn’t known why the CMDs cause muscle weakness earlier

than other types of muscular dystrophy. One possibility is

that the muscle proteins affected in CMD are required early

in the development of an infant’s muscle, while muscle proteins

linked to other muscular dystrophies don’t become important

until the muscles begin to get a lot of use as a child

grows.

7


MD

It’s important to note that just because the muscle weakness

in CMD starts earlier, CMD isn’t automatically more severe

than other forms of muscular dystrophy. The degree and

rate of progression of muscle weakness varies with different

forms of CMD and from one child to the next.

In the mid-1990s, researchers found that a deficiency of a

protein then called merosin and now more often called laminin

211 was the underlying cause of at least some cases of

CMD. Merosin normally anchors muscle cells to a structure

that encases them (like the skin on a hot dog) called the basal

lamina.

Doctors began to classify CMD as either "merosin-deficient"

or “merosin-positive.” The gene for merosin is on chromosome

6.

As the 20th century ended, researchers began to suspect that

Ullrich’s disease, now known as Ullrich CMD, was caused

by a lack of collagen 6, a ropelike protein located in the area

where laminin 211 is found.

Collagen 6, which helps support the muscle fiber, probably

affects muscle cells via its connection to laminin 211. Laminin

211, in turn, connects to muscle cells via either of two

other proteins: integrin or dystroglycan.

Dystroglycan links the outer surface of muscle cells with

structures outside them via branches, made of sugar molecules,

that protrude from its surface and stick to laminin.

The branch structure helps explain why mutations in so many

diverse genes all appear to cause CMD. Each of these proteins

contributes in a different way to the process of “sugar-coating”

(glycosylating) dystroglycan. Several forms of

CMD — such as Fukuyama CMD, Santavuori muscle-eyebrain

disease and Walker-Warburg syndrome — arise from

defects in these glycosylation proteins.

The illustration below shows the physical relationships

among these proteins.

What are the inheritance patterns in CMD?

The CMDs are caused by genetic defects that affect important

muscle proteins. Most forms of CMD are inherited in an autosomal

recessive pattern.

In brief, if a disease is recessive, two copies of the defective

gene (one from each parent) are required to produce the

disease. Each parent would be a carrier of the gene flaw but

wouldn’t usually have the disease.

If a disease is dominant, then only one copy of the genetic

defect is needed to cause the disease. Anyone with the gene

flaw will have disease symptoms and can pass the disorder

to children.

Many times, MD appears to have occurred “out of the blue,”

but in reality, one or both parents may be carriers, unknowingly

harboring the genetic mutation. Many parents have no

idea they’re carriers of a disease until they have a child who

has the disease.

Medical Management

General care

The physician should meet with the family of a child with a

clinical diagnosis of CMD as soon as possible, even before a

specific genetic diagnosis is made. The first meeting with the

family should include the following five components: diagnosis,

prognosis, recurrence risk (if known), treatment plan,

and family support and community resources.

The treatment plan should introduce a multidisciplinary approach

and include pulmonologists, cardiologists, ophthalmologists,

physiotherapists, orthopedists, possibly others,

and ideally, a palliative care specialist to optimize quality of

life.

A follow-up visit with a genetic counselor may be in order,

but since 50 percent of children with CMD may not have a

specific genetic diagnosis, supportive care should take place

regardless of whether or not a specific genetic diagnosis is

made.

Cardiac (heart) care

Some types of CMD, such as merosin-deficient CMD, are

associated with severe cardiac complications. Cardiac investigations

should be systematically performed during followup

examinations, the frequency of which is dependent on the

type of CMD and the level of cardiac involvement. Cardiac

symptoms sometimes are atypical, especially in younger patients,

and can start late in the course of the disease.

Many forms of congenital muscular dystrophy stem from

loss of firm connections between muscle fibers and their surroundings

(extracellular matrix).

8

Since severe heart arrhythmia can lead to sudden death,

implantation of a defibrillator should be considered.


MD

Gastrointestinal, nutritional and oral care

Feeding and swallowing difficulties are significant problems

in some types of CMD. Individuals with this problem should

be observed and evaluated by a qualified specialist, using a

video-fluoroscopic swallow assessment, if possible.

Recommendations for the treatment and management of

feeding problems include adaptations to positioning and seating,

supports for self-feeding, safe swallowing techniques

and food texture modification.

If these recommendations are insufficient, gastrostomy tube

feeding should be considered.

Muscle weakness and facial malformation can lead to speech

problems in some people with CMD. There is no evidence

that oral motor therapy and exercises help improve speech,

but they may help resolve feeding problems.

Neurological issues

Specially adapted computers can help children with vision

problems.

Problems related to congenital brain malformation, which

occurs in some forms of CMD, include intellectual disability,

behavioral and learning problems, autistic features, emotional

problems, seizures and vision problems.

Orthopedics and rehabilitation

Orthopedic symptoms, such as joint contractures, scoliosis,

foot and spine deformities, rigid spine, hip dislocation and

joint hypermobility are some of the most common aspects

of CMD.

A conservative and preventive approach to orthopedic symptoms

is recommended. Regular stretching, maintaining proper

positioning and environmental supports such as braces and

orthotics are generally favored over surgical interventions.

Although spinal surgery has been shown to improve the quality

of life of older children with progressive spinal deformity,

great care should be taken to minimize the risks of surgical

intervention; postoperative, multidisciplinary care is essential.

Palliative care

Physical therapy is important in maintaining range of motion

and reducing contractures. Palliative care seeks to incorporate

the emotional, spiritual, developmental and physical aspects

of caring for a person with a life-threatening disease. It

is a comprehensive and multidisciplinary model that benefits

patients, caregivers and practitioners as they seek to maximize

the life span and well-being of the person with CMD.

Problems that can be addressed through palliative care include

fatigue, pain, depression, anger, anxiety, and other

mental and emotional difficulties.

Respiratory care

All types of CMD can lead to the development of respiratory

failure, and in some types, breathing problems may be severe

from birth. A proactive approach is favoured because breathing

problems can be present before they become noticeable.

Weak crying, ineffective cough, choking on feedings, weight

loss and repeated infections all can be signs of respiratory

distress, even though, because of motor weakness, typical

signs like breathlessness may not be present.

Aggressive treatment of acute respiratory tract infections is

particularly important, as these infections are the most common

cause of hospital admissions and death in people with

CMD.

Research

Research in the congenital muscular dystrophies centers

around understanding the molecular processes that lead to

muscle loss in these disorders and experimenting with methods

to counteract these processes.

Among the approaches being tried in laboratory rodents is

gene addition (insertion of new genes, sometimes called gene

therapy or gene transfer), either to directly supply the missing

protein or to supply proteins that can help compensate for

a missing or abnormal protein.

A variant on this theme is blocking the activity of harmful

genes, which is also being tried in lab models of CMD.

An important component of MDA research in CMD is understanding

early-stage muscle development in normal and

abnormal situations, so that this knowledge can be applied to

fixing what goes wrong with muscle development in CMD.

This type of understanding could also lead to the use of stem

cells as a treatment for CMD.

Another theme in CMD research is the need to fully understand

the process of glycosylation of proteins, such asalphadystroglycan,

in the muscle-fiber membrane. Glycosylation

of a protein means the addition of sugar molecules to the protein,

which changes the way the protein interacts with other

substances. Alpha-dystroglycan is not sufficiently glycosylated

in several forms of CMD, so understanding and correcting

this process is a promising avenue for treatment of these

disorders.

Article online at: https://www.mda.org/disease/congenitalmuscular-dystrophy

9


EMERGENCY ALERT CARDS

Muscular Dystrophy UK

Muscular Dystrophy UK has created condition-specific alert cards for different muscle-wasting conditions.

These new cards mean that people living with muscle-wasting conditions and their families will have the security of knowing

they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults

with these conditions.

Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that a nonspecialist

clinician would need to know during a time of worsening health. To make sure the cards are effective, they cover a

wide range of possible symptoms and situations. The card also includes important contact information on a person’s specialist

neuromuscular and respiratory teams, which will ensure that expert advice will be much easier to access.

Alert card information on the following four muscle-wasting conditions is reprinted with the permission of Muscular

Dystrophy UK and appears on the website of the MDF Gauteng.

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 or 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 Amby 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.

GENERAL RECOMMENDATIONS AND

PRECAUTIONS:

► Keep immunisations up to date and get influenza vaccine

annually.

► People taking daily, long-term steroids should avoid

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Emergency information – for parents of boys with

Duchenne MD (Parent Project Muscular Dystrophy)

Becker muscular dystrophy is a progressive, inherited condition

characterised by progressive muscle-wasting and weakness,

affecting mostly the proximal lower and upper limb

muscles. Symptoms and severity of the condition can vary

from one person to another.

Becker muscular dystrophy

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; bring the PJ Nicholoff

Steroid Protocol (ParentProjectMD.org/PJ).

► 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.

Patients usually have difficulties in walking and climbing

stairs. They may present with frequent falls and may become

non-ambulant as the condition progresses. Patients may also

have difficulty raising their arms above their shoulders, as the

condition progresses.


Fatigue and pain can occur after mild exercise and in walking.

Paraspinal muscles are also affected and patients can develop

scoliosis (curvature of the spine) and lower back pain.

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

tests; this is normal in Becker muscular dystrophy and is attributed

to muscle break-down. This should not prompt liver

investigations unless otherwise indicated.

Recommendations and precautions

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

live vaccines if using corticosteroids.

► Wear seat belt when using wheelchair to avoid dangerous

falls.

► Wear a medic alert bracelet.

Anaesthetic precautions (continued)

► 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.

Cardiac

► Patients with Becker muscular dystrophy can develop

cardiomyopathy. Those with lesser muscle symptoms

are at risk of severe heart involvement. All need regular

heart checks.

► Early ACE-inhibitor and beta-blocker usage slows the

Congenital muscular dystrophy (CMD) is a neuromuscular

condition caused by genetic mutations that lead to a lack of

various proteins vital for healthy muscle structure or function.

► Symptoms in small babies include hypotonia (floppiness)

and low muscle tone. Contractures (tightness) in

the hip, ankle, knee and elbow joints are common.

► In children that do not have contractures, initial problems

may be difficulties holding the head, and delays

in sitting and walking.

► Some forms of CMD can have associated brain changes

on a magnetic resonance imaging (MRI) scan.

► Some children with CMD and brain changes visible on

an MRI scan may have learning difficulties with or without

epileptic seizures.

Respiratory

► Respiratory failure in CMD may present without the

usual signs of respiratory distress. Always consider

underlying respiratory failure.

► If presenting with respiratory symptoms or oxygen

need, measure SpO2 in air and CO2 (transcutaneous,

end-tidal or blood gas).

► Titrate oxygen therapy to achieve SpO2 94-98% and

monitor CO2.

► If CO2 is raised, consider early initiation of mask ventilation.

► Manage respiratory infections with chest physiotherapy,

and consider use of nebulised saline and in-exsufflator

(cough assist device).

► For hypersecretion, consider use of glycopyrrolate

40-100 micrograms/kg oral max 2mg six-hourly (use IV

solution 200 mcg/ml) or oral atropine drops.

MD

progress of cardiomyopathy.

► Heart failure symptoms will be subtle/absent in those

with greater disability. If a patient has not been having

regular heart checks, consider the possibility of a severe

underlying 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

► Chronic respiratory failure in Becker muscular dystrophy

may present without the usual signs of respiratory

distress. Subtle signs include early morning headaches,

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.

Congenital muscular dystrophy (CMD)

► Collect cough swab or sputum for culture and use broadspectrum

antibiotics.

► Consult early with senior to discuss need for ITU care

and escalation of respiratory support.

Cardiac

► The likelihood of heart involvement depends on the

underlying CMD mutation and this guides the intensity

of cardiac surveillance (i.e. Echo and ECG).

► Cardiomyopathy occurs commonly in MDC1C (fukutin

mutation) around age 10 years, progressing to heart failure.

Periodic cardiac imaging is recommended from diagnosis.

► LV-dysfunction may be mild or non-progressive

(MDC1A; FKRP).

► Even asymptomatic LV-dysfunction should be treated

empirically with conventional regimes (e.g. ACE-inhibitors

or angiotensin-receptor blockers; +/- beta-blockers;

etc).

► The possibility of severe LV-dysfunction should be

considered when CMD patients present acutely or for

other aspects of their condition.

Speech and language therapy/swallowing

► Swallowing difficulties can be common in CMD.

► Symptoms such as recurrent chest infections, unintentional

weight loss, the sensation of food and drink sticking,

or feeling the need to clear the throat when eating

or drinking, should be investigated more thoroughly.

► Refer to a specialist speech and language therapist for

an up-to-date swallowing assessment and/or the nutrition

team for consideration of alternative means of hydration/

nutrition, such as gastrostomy.

11


MD

Orthopaedics

Low-energy fractures can occur in children with poor mobility

and joint contractures.

► In the limbs, these can appear as ‘greenstick’ or impacted

fractures and can be difficult to see on X-ray.

► A high level of suspicion is required if a child has minor

trauma, pain, tenderness and limited, reduced mobility.

► Refer to specialist paediatric orthopaedic services for

fracture management.

GI nutritional issues

► Gastrostomy tube leakage can occur and may need

replacement.

► Infection should be treated with appropriate antibiotics

or topical preparations.

► If the site is very swollen, the tube may have to be

removed to relieve pain.

► If tube is removed/or falls out it is important to keep entry

site open using XX and to contact the gastrointestinal

specialist as soon as possible.

12

Facioscapulohumeral muscular dystrophy (FSHD)

FSHD is a muscular dystrophy characterised by progressive

muscle weakness affecting the facial, scapular, axial, upper

arm and lower leg muscles. Wrist and hand muscles as well

as those in the hips may be affected but usually later in the

condition. Bulbar muscles can be affected in the more severe

cases and at late stages of the condition. Extraocular and respiratory

muscles tend to be spared. The severity of the condition

varies from patient to patient even in the same family

and is partly dependent on the severity of the mutation.

Respiratory

► Respiratory function is usually normal. In a minority of

cases, however, type 2 respiratory failure may occur

owing to weak breathing muscles, causing shortness

of breath and nocturnal hypoventilation.

► Patients can be prone to chest infections owing to respiratory

failure. Patients reporting dysphagia might also

be at risk of aspiration pneumonia.

► Immunisations should be kept up to date, including the

flu and pneumococcal vaccines.

► If breathing function is impaired and if supplemental

oxygen is required during a respiratory crisis it must

be carefully controlled (aim for SpO2 target range of

88-92%) and carbon dioxide levels monitored.

Non-invasive ventilation (NIV) may be required.

► Assisted coughing with chest physiotherapy and breathstacking

techniques with an AMBU bag help to clear

lower airways secretions during acute chest infections,

or prophylactically when respiratory function is compromised.

This can also be facilitated by a cough assist

device.

Cardiac

Heart function is usually not affected. Potential cardiac

symptoms (palpitation, fainting, dizziness and shortness of

breath) require appropriate investigations. Coincidental cardiac

problems, unrelated to FSHD, are more likely than causally

related problems.

Pain

Chronic pain, probably secondary mechanical in origin rather

than being directly related to the myopathy, is very frequent

in FSHD patients. Mechanical cervical and lower back pain

is common especially in patients who are developing an axial

myopathy lumbar lordosis (often evident as a protuberant abdomen).

Fractures and falls

► Owing to weakness and poor balance, patients with

FSHD are at high risk of frequent falls.

► Consider checking vitamin D levels and bone mineral

density, especially following a fall or fracture.

► If ambulant, internal fixation is preferable to casting as it

helps to preserve muscle by allowing earlier mobilisation.

► Orthotics input is important, especially for ankle weakness.

Orthotics can also be used to support the axial

myopathy and periscapular weakness.

Anaesthetics/sedation

► Some patients can experience an increased sensitivity

to sedatives, inhaled anaesthetics and neuromuscular

blockade. It is essential that the anaesthetist is aware

of the diagnosis of FSHD so that appropriate plans can

be made for post-operative monitoring.

► Patients with compromised respiratory function have

a higher anaesthetic risk.

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

minor dental procedures.

Liver/GI

Liver serum creatine kinase (CK) and ‘liver’ enzymes (AST/

ALT, but not gamma GT) may be mildly raised owing to the

muscle involvement. The clinical setting dictates whether

further investigation of the apparent liver dysfunction is indicated.

Gastrointestinal (GI)

► Constipation is common in FSHD patients with substantially

reduced mobility, but may need assessment to

exclude other causes.

► When dysphagia occurs in FSHD, patients are at risk

of aspiration pneumonia.

Other possible manifestations

► Conjunctivitis and ulceration of the cornea can occur

owing to limited blinking and inability to properly close

the eyes, also when sleeping. The patients should consider

using artificial tears and protect their eyes during

sleep.

► Retinal vasculopathy, usually asymptomatic, may affect

FSHD patients.

► High-frequency sensorineural hearing loss is common,

not usually symptomatic.

► Substantial facial muscle weakness may lead to misinterpretation

of emotional expression, particularly in those

with severe, childhood-onset FSHD.


QASA “EISH” CAMPAIGN 2017

Taking Action when Disability Discrimination Occurs

QASA launches a creative “EISH”* campaign by using the wheelchair Lego man in various environments identifying

problems and issues experienced by persons with physical disabilities.

*Term used in South African English and Afrikaans to express exasperation or disbelief. The word

was first transliterated from the Xhosa language to Afrikaans, and then into South African English

(Urban Dictionary). Also used to express surprise, annoyance, pain, etc (Oxford Living Dictionary).

QASA manages a contact number for members to lodge a complaint, discuss an issue, seek advice and be heard.

0860ROLLING (0860765546) is manned by QASA staff from Monday to Friday 8am to 4pm.

QASA will take note of each and every call which will allow the organisation to interrogate the issue, provide a

solution, have a call to action and respond to the caller.

Visit our website www.qasa.co.za if you want to become a member / learn more.

JUSTICE TRANSPORT ACCESS PARKING EMPLOYMENT

The National Road Traffic Act (1996), (Act 93 of 1996) in regulation 305 sub regulation (7) states the following:-“No

person other than a disabled person or a driver of a vehicle conveying disabled persons which motor vehicle is

issued with a sticker for conveying disabled persons shall park on a parking bay reserved for disabled persons”.

QASA believes that wheelchair parking facilities, designed 3500mm wide, are for the use of wheelchair users only.

This is to ensure that a wheelchair user has the required width in order to get in or out of a vehicle safely.

QASA has a campaign whereby in the event of a non-wheelchair user misusing a wheelchair demarcated bay

the public are encouraged to take a photo (ensuring the vehicle registration is clear & wheelchair parking sign is

visible) and WhatsApp it to 0738539675 including the location, date and time and QASA will kindly sensitise the

offender.

If you have an EISH moment / experience with wheelchair parking not being provided, available

or being abused, communicate this to QASA and QASA will investigate and follow up.

QASA will strive to remove the EISH from your parking issues.


Events

Make Today Count Tandem

Skydiving 2017

By Christo van den Berg

Everyone in the cabin got ready and checked their

seat belts, and as the plane approached the point

from where we would jump, we slowed down and

the door was opened. Corné Vorster, the instructor

with whom I was doing the tandem jump, moved

me to the point of exit from the plane and said,

“Are you ready?” After a quick shuffle we jumped

out. The feeling was overwhelming; it felt like I

just dropped without any assistance, and so fast.

It was hot on the ground, but up in the air it was

very cold. You fall freely with your hands open and

simply drift in the air.

I looked around and everything looked different

from up there, like you would see in the movies.

After a few minutes, Corné held my head back,

pulled my hands in and the parachute opened up.

Corné gave me two handles, one right and one

left, and said, “You're in control of parachute”. I

turned left and then in a circle and then right into

another circle.

I am affected with Charcot-Marie-Tooth disease, and

one of the things that I always wished to do was skydiving.

When I read about the “Dare Me For Charity

Skydiving” event, hosted by MDF Gauteng, which

included the Make Today Count Tandem Skydiving

event, I signed up for the challenge.

We were ready to land, the plane having landed

already, and softly we came back down to the

ground. It was really nice and a great experience

with such a professional team.

On Saturday, 12 August 2017, I had the opportunity

to do a tandem jump at Leeukop Farm Airfield in

Deneysville.

When they lifted me up into the plane, my adrenaline

began to pump and I began to get a hollow feeling in

my stomach, the feeling that you get when you know

what is coming next and you are full of excitement.

They asked me if I was ready, and with great excitement

I said “Yes!” The plane engines started and hot

air from the exhaust pipe flowed into the cabin as the

door was shut.

The plane slowly began to move forward and the engine

started to pick up and we were lifted up into the

air. As the plane started to climb, my stomach felt

awkward, that butterfly feeling. I looked out of the

window to the ground below and realized how small

everything looked from so high up.

(Pictured: Christo van den Berg, from Bethlehem

and Elvis Naya, from the Seychelles)

14


Muscular Dystrophy

Awareness Run

By Doné and Hanti van Eyk

Events

The Little Hero Foundation held their inaugural muscular

dystrophy awareness run on 30 September 2017 in conjunction

with the Springs parkrun. More than 500 runners lined up

to complete the five-kilometre course, most wearing green to

show support and create awareness. The heart of the event

was the intention to run for those who can’t. Before the start,

an opportunity was provided to explain to the participants and

the supporters what muscular dystrophy is and how it affects

those who live with this condition.

The Little Hero Foundation was established by

Doné and Hanti van Eyk following the diagnosis in

2017 of their two-year old son, Lian, with LMNArelated

congenital muscular dystrophy. The purpose

of the foundation is to create awareness of all types

of muscular dystrophy and actively participate in the

“fight” to find a cure.

“Oomies se

Road Trip”

By Pieter Joubert

Earlier this year Bennie Hattingh, an MDF Gauteng

member, and his friend Martin Kotze did an incredible

road trip in a 1968 Renault 6 from Brits to Yzerfontein

on the West Coast.

They left on 22 August and travelled 300 km per day at

60 km per hour, their car’s top speed. This unique journey

was in honour of the life of André Hattingh, son of

Bennie and Lynette Hattingh, and of others touched by

Duchenne and various muscular dystrophies.

The history of their Renault is also rather interesting. It

was found in a scrapyard and cost a mere R3 000, but,

to the surprise of everyone, purred to life after a few

fluids were put in. After being fitted with new tyres and

shocks and being freshly painted, the car was ready to

hit the road once more.

The Muscular Dystrophy Foundation Gauteng wishes to

thank Bennie Hattingh, Martin Kotze and all who were

involved for the awareness they have created. Following

the trip every day on Facebook was an amazing

experience.

15


People

Just live!

So says Anne-Marie,

diagnosed with FSHD

at age 33

[Extracts from the article “‘Lewe net!’, sê lyer”

published in TygerBurger Goodwood, 5 September

2017 written by Carina Roux (translated and

slightly adapted by Pieter Joubert)]

TygerBurger spoke to Anne-Marie

Stoman, 58, a resident of Panorama

Palms Retirement Village.

She was diagnosed with facioscapulohumeral

muscular dystrophy

(FSHD) at the age of 33.

FSHD affects the muscles in the

face, shoulders and upper arms.

It goes even further to her waist

and legs – even to her feet, Anne-

Marie explains. “My whole body

is affected. That's why I can tell

a joke without emotion”, she

laughs.

The offbeat humour soon comes

through in the conversation.

She was very sporty and took

part in hockey, squash, karate

and modern dancing. It was in an

aerobic exercise class that she

"began to feel like an elephant –

thud, thud, thud, I could not skip

anymore”.

She went home embarrassed,

where she tried to stand on her

heels. “I couldn’t. Even less on my

toes. I thought I was going crazy.”

She went from one doctor to the

next. Eventually an intern friend

referred her to a doctor at Mediclinic

Constantiaberg. He made

the diagnosis by sticking needles

into her left leg, and was able to

determine that the problem lay

with her muscles.

She continued with sport and with

exercising at a women's gym until

seven years ago, “until I really

couldn’t do it any more”.

About the diagnosis, she just

thought “whatever” and did not

even read up on FSHD. “I just

went on with my life until I started

falling – also at work.”

She worked in the army's signal

regiment, a fine-grained job

where she sometimes had to install

and carry equipment. She

started falling and later could no

longer work.

She assists with administration

functions at the Muscular Dystrophy

Foundation Cape Branch and

provides moral support for others

– like the mother of a young man

just diagnosed.

“I give moral support and sometimes

visit people when they are

a bit depressed – I love helping

people.”

Many people struggle to accept

the condition, she says, but she's

very positive – “and I laugh at everything,

maybe it's wrong! I know

exactly how it feels for people who

have just been diagnosed – you

must try to get something positive

out of your situation and it's difficult.

Once you've done the mind

switch, forget the rest, just live!”

She emphasises that one must

keep on going, but she admits

you cannot force people, as they

sometimes think it's a death sentence.

Fit and active

She was always fit and active and

believes this definitely helped

her body not to deteriorate too

quickly. “I should have been in a

wheelchair a long time ago – the

longer you can keep your muscles

supple, the longer you can keep

their strength.”

In the beginning, a person will

feel the difference in their body,

she says, and later you will find

that you struggle with a drawer

that you could still open the day

before. Then you should be careful

not to hurt yourself. “I give

such advice on things that have

happened to me.”

It may sound strange, says Anne-

Marie, but she has never been

as happy as she is now. “In my

work I was always on the ball

and thought people should keep

up with my fast pace. They were

actually scared of me and didn’t

want to talk to me.” Now she is

much more relaxed.

16


Recently a ballroom dance was

held in the hall, and she told

someone: “If the Lord asked me if

he could give me my legs back so

I could go dancing or if I'd rather

have what I have now, I wouldn’t

think twice. I'm incredibly happy

here and in myself.” She still does

things, says Anne-Marie. As long

as she can, she will fold her walking

frame and put it in her car,

which she still drives. She is part

of a support group where everyone

can laugh and cry as they

please and advise one another.

She is also part of the Loslappie

Quilting Group, although she initially

doubted whether she’d be

able to work with a needle because

she couldn’t even pick up

a glass with one hand. Where

there’s a will, she finds a way.

Now completely screwed

After a fall, she recently underwent

arm surgery. With three

screws in her arm, she’s now

completely screwed, she jokes.

“I often tell people that I think I'm

too stupid to realise what's happening

to me, so I just carry on – I

know, but just keep on going.”

There have been many dark times

in her life, but she has come

through them. She realises that

her children, aged 32 and 29,

would have suffered. She has

learnt to handle things with a

sense of humour – that laughter

can turn away wrath.

You cannot walk around with the

Bible under your arm, but you can

display love and advise others.

Original article online at: https://issuu.com/tygerburger/docs/tygerburger_de_grendel_20170906

KINGFISHER CORNER, SEDGEFIELD

By Hilton Purvis

For many years the little village of Sedgefield, on the

Cape Garden Route, was a town that we always passed

through on the way to somewhere else. Each time we

would read signage indicating the "Wild Oats Farmers

Market" which is held every Saturday morning. As we

developed an interest in our local Cape Town farmers

markets we started taking more notice of the Wild Oats

market and decided to plan a holiday which would place

us there on a Saturday morning.

Finding accessible accommodation is always a challenge,

and Sedgefield does not provide many choices,

but we discovered "Kingfisher Corner" self-catering accommodation

via the website of Disabled Travel (www.

disabledtravel.co.za) and decided to give it a try.

Built on a hillside overlooking the Sedgefield estuary,

"Kingfisher Corner" consists of three separate houses.

The lower house is the home of the owner, and the

central unit has ramped access from the driveway and

provides a fully accessible interior. The upper house is

accessed from the road and provides a very spacious,

accessible, home-like interior. All provide the necessary

grab rails, roll-in showers, etc although the upper house

is a little more difficult to access with a wheelchair from

the road. The view from the veranda of the central unit

is included for this article and provides a spectacular

panorama of the estuary, which will have you spending

a lot of time finding reasons to be sipping gins and tonic

on lazy summer afternoons!

"Kingfisher Corner"

36 Kingfisher Drive, Sedgefield

Tel/Fax: +27 (0)44 343 1715

E-mail: lseals@arms.co.za

See details online at: http://www.capestay.co.za/

kingfishercorner/

The Wild Oats Farmers Market is accessible with assistance

(the car guards will direct you to parking places

which are close to the action) provided you can manage

undulating grass and hard ground under your wheels. It

is one of the few genuine farmers markets servicing the

residents of the town and not merely acting as a dining

opportunity for visitors looking for entertainment as is

so often the case in Cape Town. It is a large, busy and

active market providing fresh produce, food, beverages

and crafts over quite a large area and can keep you

busy for a good couple of hours!

Another Sedgefield institution worthy of a visit is the famous

"Mr Kaai's" fish shop on the main road, just next

to the one and only traffic robot in the town. We enjoyed,

without doubt, the finest seafood platter we have

ever eaten at Mr Kaai's, sitting outside the restaurant

underneath the canvas awning. You really cannot drive

through Sedgefield without stopping in at Mr Kaai's! It's

as simple as that.

17


People

Iman Casoojee

By Tasnim Jadwat Casoojee

on my screen. After reading a few lines it was evident

that Iman’s condition would ultimately result in her

early demise, as Iman would be classified with type

1, the most severe form of SMA.

January 2010, a new year full of hope promise and

prosperity for South Africa. But a time bomb had been

placed on my child. “SMA type 1 Werdnigg Hoffmann

disease” the doctor wrote, after a quick examination.

Fasciculations? Tremor in her hand? I’m sorry.

“Doctor, how much time do we have left with her?

A month, plus another, and maybe another?”

But it was just the beginning, a new outlook on life and

the world around. Our little angel was special from

the time she arrived in this world. Iman Casoojee was

born 6 April 2009. “You have a girl” we were told, after

a reasonably easy C-section. As I kissed her for

the very first time, I thought, by God’s mercy she is

healthy and beautiful, a child born with a single tooth.

My husband and I couldn’t wait to take her home and

start our new life together as a family. We named her

Iman not knowing that it would be the most ironic

name of all. Iman means faith.

Even before Iman entered this world, I would follow

her progress day by day on the internet. Once she was

born, I wanted to learn everything about her and how

to be the best mother possible. For a while everything

seemed fine, and she reached all her milestones, but

at six months Iman did not sit by herself and preferred

lying down all the time. Being a first-time mother, I

was not that concerned as I’d read that some kids just

develop slowly. When Iman was nine months old, she

still couldn’t sit. We noticed that she couldn’t even roll

or lift her head when placed on her tummy. We knew

something was wrong but never guessed it would be

so devastating.

When we returned to Johannesburg we took Iman to

another neurologist. Although my heart told me it was

serious, I prayed and cried, pleading to God to make

things okay. This was before our world was turned

upside down. The doctor examined Iman and said he

had bad news for us. On a piece of paper he wrote

down “SMA – Werdnigg Hoffman’s Disease”. I immediately

started crying and asked the doctor how

much time Iman had left with us. He responded that

she could have a few months left, and that no cure or

treatment was available.

When someone tells you your child is going to die, you

feel as though every bit of air in your body has been

removed and your heart has been perforated. But the

weirdest part of knowing is that you feel you already

knew it, almost déjà vu. I immediately called my parents

to inform them about Iman. We never thought

that a condition like spinal muscular atrophy would

ever manifest in our child; we did not even know it

existed. For a parent, imagining that your child may

never walk is hard enough, but being told your child’s

time is limited is the worst feeling possible.

In 2011 we attended the Cure SMA conference in

Orlando, USA and decided to make a vacation of the

trip. However, Iman contracted the RSV virus [respiratory

syncytial virus] and spent 17 days in a Miami

hospital. Her right upper lung collapsed and she was

intubated. We were so close to losing her. Miraculously,

she recovered. Fast forward to a few years

later, and Iman is still alive and looking forward to

starting a recently approved treatment for SMA, labelled

Spinraza. This lifesaving treatment is making

such a big difference to the lives of many affected

with SMA.

During a holiday to Durban, Iman was taken to my

sister’s husband, Dr Ridwan Omar, a paediatrician,

who disclosed that Iman was an extremely floppy

baby and recommended we see a paediatric neurologist,

who suggested that further testing would be

required. While the doctor examined Iman, I made

mental notes of all the symptoms she was pointing

out. Although I did not understand any of the terms,

I intended to find out what they meant. After returning

home, I “googled” the symptoms, which included

a tremor in Iman’s hand as well as “fasciculations”.

The results were devastating: a degenerative muscle

disease called “spinal muscular atrophy” popped up

18


People

Tribute feature for the

late Patrick John Artman

By Carol Artman

vigour, but Pat struggled to climb the steps and get

in and out of the swimming pool. With his “never say

die” attitude, Pat started his own company manufacturing

fibreglass basins for hairdressing salons. He

was the sole worker and delivery man, doing everything

on his own as he could not afford to hire help.

He would sometimes fall, but pick himself up and

carry on.

My husband, Patrick, and I were married on 9 March

1967. We lived in an old, run-down building in Crown

Road, Fordsburg. After a few years we moved to a

flat in Newclare, where I noticed that Pat couldn’t

climb over the little embankment in front of the flat

and had to walk a short way to where the surface

was flat. It didn’t bother us much. We were in the

prime of our lives and by this time had three children,

the youngest being our son Sheldon (4). We

had just purchased a piece of land in Fleurhof to

start building our own home. Pat was so proud and

happy, as he really wanted to have his own home.

But that pride and joy turned to sadness when, at

the age of 37, he was diagnosed with muscular dystrophy,

which we had never heard of before.

The news struck us like a death sentence. We cried,

we prayed and cried again. Yes, we were also angry

with God! But we decided to take one day at a time,

and Pat soldiered on bravely. He was diagnosed

with three types of dystrophy: limb girdle MD, spinal

muscular atrophy, and Becker MD.

During his long stay in Baragwanath Hospital undergoing

countless tests, he was unexpectedly dismissed

from his job for being absent for such a long

period attending to his health. He had lined fibreglass

pools, which required physical strength and

During this time a very “special lady” by the name of

Renske came into his life, having called him for an

appointment to sell him life insurance. She played

a very important role in our lives as she was instrumental

in getting him a motorised wheelchair when

he could no longer walk and his arms had become

weaker. Before Pat passed away he referred to her

as his “guardian angel”, which she indeed was.

Before we fully understood muscular dystrophy, we

were fortunate to meet another person with MD,

Pieter Joubert, and his family, who shared the same

challenges and made it easier for us to get through

many of them. Through what has become the Muscular

Dystrophy Foundation, Pieter introduced us

to many other people with the condition, one of the

most notable being Ilse Langenhoven, who was

serving on the committee but has since also passed

away.

Pat tried for a long time not to become dependent

on the wheelchair but as he became weaker it allowed

us to continue enjoying holidays and outings,

creating some beautiful memories. He worked tirelessly

to give his family a good life despite his circumstances,

but his long fight ended on 3 October

2017.

Thank you, Pat, for your brave fight and your love of

me and the children. You indeed had a good name

– “A good name is better than any fine perfume; and

the day of death better than the day of birth” (Ecclesiastes

7:1). We miss you, and you will forever be

in our hearts.

Rest in peace, Pa.

MDF Gauteng and Cape wish to thank you for your continued support.

20


People

Ride London: Barbara’s story

Just one year ago, Barbara was diagnosed with

facioscapulohumeral muscular dystrophy (FSHD)

which causes muscle wasting in the limbs, shoulders

and face. A life-long cyclist, she was determined

not to let her condition stop her love for the

sport.

“I’m doing Ride London because I want to prove

to myself, and others, that my condition won’t stop

me doing the sport I love. I have always cycled

regularly, and I refuse to let my condition slow me

down.”

Barbara works in an office as a case consultant for

a pensions company. She lives in Stockport, with

her husband, their two sons and their daughter.

She has big plans to compete in 2017’s Ride London

event – a 100 mile cycling challenge across

London and Surrey.

“Being diagnosed was devastating and a real

shock to all the family. I had heard of muscular dystrophy

before because my brother in law’s mother

has limb girdle muscular dystrophy. But she had

never really talked about it until I was diagnosed.

Now, we openly share our experiences, which is

really valuable.”

Barbara’s road to diagnosis started at a sports

massage clinic after cycling from Land’s End to

John O’Groats.

“My muscles felt stiff and tired, so I hoped a massage

would ease the tension. I had also noticed

physical differences, such as changes to my posture,

and issues with my balance, but I didn’t think

much of it. Then, at my appointment, my masseuse

was shocked when she realised I had little

muscle tissue around my neck. She was amazed

and asked how I even held myself up on a bike.

Worried, I booked an appointment with a physiotherapist,

who referred me to hospital. Just before

Christmas, in 2015, I was given the news I had

FSHD.

“It was such a tough period. I had no information

about the condition and felt totally isolated. There

is never a good time, but Christmas was a really

tough time to get such life-changing news.

Thankfully, not long after, I heard about Muscular

Dystrophy UK. Through them, I was able to access

information, specialist support, and heard about

others with similar conditions.

“After diagnosis, I was desperate to see someone

with my condition living an active life. I needed to

see someone else who was doing okay. As FSHD

is so rare, I didn’t know anyone else with the condition.

Then, a friend told me that I could be the

person that others look to. She was right.

“Since then, I’ve taken even more pride in maintaining

as much cycling as possible, because I

want to show others what’s possible. I have had

to make adaptations, such as taking more breaks,

but the enjoyment and drive is still there. Last summer

I cycled the ‘Holy grail’ of cycling routes when

I conquered the Madonna del Ghisallo, which is a

10km climb from Lake Como and is a place of pilgrimage

for Italian cyclists.

“I am so fortunate to have already had cycling in

my life, as it made me determined to just keep going.

I’m not super fit, and you don’t have to be to

get on a bike.

“In 2017 I have two big bike rides planned – I will

be cycling through Spain in February and France in

July with some of the cyclists I met in in Italy. One

day, I plan to cycle the length of the River Rhine

through Switzerland and Germany to the Netherlands,

which will be a real mental challenge.

“I was really inspired to enter Ride London to raise

funds and awareness of muscular dystrophy. It

would be amazing to think I have contributed to a

future cure. I’m also inspired to show others what

can be done with a condition.

“I always wanted to see someone with FSHD living

an active life in the public. Now, I’m happy to be

that person. So when the next person is diagnosed

they can see that it’s not all doom and gloom – you

can keep going.”

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

org/your-stories/ride-london-barbaras-story/

21


People

The Roe family’s

story

Mandy Roe’s son, five-year-old T-Jay, has Duchenne

muscular dystrophy, and is eligible for new

drug, Exondys 51.

The drug – which was recently approved by

the Food and Drug Administration in the United

States – is currently being considered for a licence

by the European Medicines Agency.

Read the family’s story:

“Exondys 51 is a piece of hope for T-Jay and us:

a ray of light in a very dark tunnel”.

T-Jay lives in Nottinghamshire with his parents

and big sisters Cassidy (15) and Lexi (7). His

mum, Mandy, sees the drug as potentially life

changing for T-Jay, who has the devastating

muscle-wasting condition, Duchenne muscular

dystrophy.

“T-Jay is a happy, fun loving young boy. He

started school in September 2016 and is doing

so well, with lots of friends who he enjoys running

and playing with. He loves to read and is a

real bookworm. He is brilliant at writing and very

good with numbers.

“When T-Jay grows up he wants to be a teenage

mutant ninja turtle!”

T-Jay was diagnosed with Duchenne on 1 July

2015. He has a deletion amenable to the skipping

of exon 51, meaning he is eligible for

Exondys 51.

Mandy says: “He had a fall off the sofa and after

the blood test we got the devastating news.

At that moment, our world fell apart. It really is

heart-breaking to see your son get so upset because

he falls or can’t keep up with his friends.

It’s hard to see he can’t do things that other children

would take for granted: walking, running or

climbing the stairs.

“If he were able to start treatment with Exondys

51, he could carry on doing the things he loves

for longer: playing with his friends, going to

swimming lessons and dancing to his favourite

songs.

“If I could speak to the decision makers directly,

I would ask them to please help my son, giving

him the best chance possible to be a happy

young boy.

T-Jay isn’t a case note, or a name on a piece of

paper: he is my universe.”

Article online at: http://www.musculardystrophyuk.org/your-stories/exondys-51-the-roefamilys-story/

The Muscular Dystrophy Foundation of SA would

like to thank the National Lotteries Commission for

their support.

22


People

Ella and her ‘cheeky feet’

Lucy Brady lives in Huntingdon, Cambridgeshire,

with her husband, Andrew, and their four-year-old

daughter, Ella, who has Charcot-Marie-Tooth disease

(CMT). Lucy talks about Ella’s diagnosis, and

what life is like for her young daughter.

“Ella started walking on her first birthday, but she

never found her feet properly. We would always be

following her around, waiting for her to fall.

“By the time Ella was two, she was falling over

all the time. We were getting quite worried by this

point, and after numerous trips to see the GP, we

were eventually referred to a physio. By this point,

Ella’s feet were starting to turn under. She had an

MRI, and from there, we were referred to a neurologist.

In February 2015, a blood test confirmed

Ella had CMT.

“Ella’s diagnosis didn’t come as a massive shock

to us, because I am a trained nurse, and had done

lots of research when I was trying to find answers

as to what was wrong with Ella. At first my husband

and I were relieved that it wasn’t something worse,

but then it hit us that there is no treatment, and this

took a while to come to terms with.

“Having ‘cheeky feet’ is how we describe Ella’s

condition to her. We tell her that when she was

made, CMT said they wanted to be part of her,

they picked her. When we said this to Ella, she

said “What if I don’t want CMT?” so I told her that

CMT likes her, so it will always be with her, but the

doctors will help her. To that, she said ‘OK, that’s

fine.’

“Ella loves school, she is really outgoing, bubbly

and bright. She is learning phonics at the moment,

which she is enjoying. Unfortunately she didn’t

qualify for receiving any extra support at school,

but she has physio at lunchtime. Ella’s classmates

are very accepting of her condition – she wears

splints to school, and the children will ask what

they are and why she is wearing them. They hold

her hand and help her where they can.

“We recently got a dog, and as a family, we enjoy

walking him, and Ella uses her wheelchair. We also

like going on trips to London to visit the Natural

History Museum – Ella loves dinosaurs.

“Tiredness is becoming an issue for Ella. She is becoming

dependent on her splints, and without them

she really struggles to walk and wants to crawl, or

be carried. She suffers with cramping at night, so

we do massage to help with this, and watch cartoons

to distract her from the pain.

“My advice for parents who have recently had a

child diagnosed with CMT would be to make sure

you have a good support network around you. Let

people who want to help, be there for you. There

are lots of fantastic organisations out there who

can offer advice and support, including Muscular

Dystrophy UK. Don’t try and take everything on

your shoulders. You have to get to the point where

you accept your child’s condition is part of them.

Take each day as it comes.

“I think a support group for parents would be really

helpful. It would give us a human link to people,

and the chance to share experiences.

“Ella’s neurologist told us about Muscular Dystrophy

UK. We started looking on the website for information

about Ella’s condition, we found this really

helpful. It was at this point that we decided we

wanted to start fundraising for the charity.

“Last year, seven of us took part in the charity’s

Town and Gown running event in Cambridge. We

completed the 5km race, and thanks to the fantastic

support from the local community, we raised

more than £1,200 for the charity.

“We are looking at what to do next. We might do a

yearly challenge under the name ‘Ella’s team’.”

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

org/your-stories/ella4-has-charcot-marie-toothdisease-cmt-her-mum-lucy-shares-her-story/

23


Research

The following three articles, all by Jenny Sharpe, are from the Research section of the Muscular Dystrophy

UK website (http://www.musculardystrophyuk.org/progress-in-research/news/).

20/10/2017

Scientists at the University of California,

Berkley, have developed a new

way to deliver the genome-editing technology,

CRISPR-Cas9 into cells. This

new system, called CRISPR-Gold, corrected

the mutated dystrophingene in

a mouse model of Duchenne muscular

dystrophy.

CRISPR-Cas9 consists of a piece of

RNA and the Cas9 enzyme that can cut

DNA like a pair of ‘molecular scissors’.

The RNA guides Cas9 to cut a specific

region of DNA.

In order to accurately correct a mutation,

CRISPR-Cas9 must be delivered

with the healthy DNA sequence (called

the donor DNA). The cell uses the

donor DNA to repair the cut made by

Cas9, through a process called homology-directed

repair. This has been difficult

to achieve with adeno-associated

virus (AAV) delivery systems, as they

are too small to fit both the CRISPR-

Cas9 and donor DNA.

An advantage of CRISPR-Gold is that

it can carry CRISPR-Cas9 and donor

DNA simultaneously. It does this using

tiny gold balls called gold nanoparticles.

These are covered in a special

coating that helps them to get inside

24

New CRISPR system corrects dystrophin mutation in

Duchenne mouse model

the cell. Once inside, the gold nanoparticles

break apart and release the CRIS-

PR-Cas9 and donor DNA. This triggers

homology-directed repair, which corrects

the mutation.

In this study, the researchers designed

CRISPR-Gold to target the mutated

dystrophin gene in the mdx mouse

model of Duchenne muscular dystrophy.

It was injected directly into the

muscles of the mice, as it cannot be delivered

systemically.

Two weeks later, the researchers found

that about 5% of copies of the dystrophin

gene were corrected. This significantly

increased the amount of dystrophin

protein in the muscle and reduced

muscle scarring (fibrosis). The treated

mice also performed better in muscle

function tests compared to untreated

mice. The researchers concluded that

CRISPR-Gold was safe because it did

not cause other mutations or an immune

response.

One of the leaders of the study, Professor

Niren Murthy, told The Scientist:

"In this paper, we were actually able

to correct [the gene for] dystrophin

back to the wild-type sequence. The

other way of treating this is to do

something called exon skipping,

By Betty Kao

which is where you delete some of

the exons and you can get dystrophin

to be produced, but it’s not [as functional

as] the wild-type protein."

CRISPR-Gold has not yet been tested

in clinical trials, but some of the researchers

have created a company

called GenEdit to focus on translating

the technology into humans. They are

also developing a next generation of

nanoparticles that can be injected into

the bloodstream. This could potentially

improve their clinical benefit, as

they could get into every muscle of the

body, including the heart and breathing

muscles.

Professor Vincent Rotello, a drug

deli-very and nanotechnology expert at

University of Massachusetts, who not

involved in the study, told The Scientist:

"There’s a lot of work to be done to

move to the point where we’ll actually

be able to cure diseases, but I think

this [study] shows the way forward."

The study was published in the scientific

journal Nature Biomedical Engineering.

Article online at: http://www.musculardystrophyuk.org/news/news/newcrispr-system-corrects-dystrophin-mutation-in-duchenne-mouse-model/


Research

Myotubular myopathy gene therapy trial to start in the UK

17/10/2017

Audentes Therapeutics is currently developing

a gene therapy drug, named

AT132, for the potential treatment

of X-linked myotubular myopathy

(XLMTM). AT132 uses a harmless

adeno-associated virus to deliver a

healthy copy of the MTM1 gene to the

body. AT132 is currently being tested

in the US, in a phase 1/2 trial named

ASPIRO.

Audentes Therapeutics recently announced

that the Medicines and

Healthcare Products Regulatory Agency

(MHRA) has approved the Clinical

Trial Authorisation (CTA) application

for testing AT132 in the UK. This

means Audentes Therapeutics can start

working with UK based clinical study

sites to start enrolling individuals with

XLMTM into their ongoing ASPIRO

trial.

08/08/2017

Muscle strength tests could help to predict bone health

in people with FSHD

This article was kindly shared by June

Kinoshita, FSH Society.

Muscle plays an important role in bone

health, and conditions such as Duchenne

muscular dystrophy have been

linked to low bone mineral density,

abnormal bone turnover (the cycle of

new bone formation and old bone removal),

and increased risk of fractures.

It was not known whether facioscapulohumeral

muscular dystrophy (FSHD)

also affects bone health, and a recent

study published in Muscle & Nerve begins

to address this question.

Bone health is a concern for many people

with muscular dystrophy, because

weaker muscles increase the chance of

falling and the risk of fracture. Fractured

bones can take a long time to

heal, and reduced mobility as a result

of fractures can, in turn, further weaken

muscles.

Mr Matthew R Patterson, President and

Chief Executive Officer at Audentes

Therapeutics, said in a press release:

"This CTA approval represents another

important milestone for our

AT132 program. We recently announced

dosing of the first patient in

ASPIRO at a U.S. clinical study site,

and we are pleased to be working

closely with the European XLMTM

community as we continue to execute

on our global plans to develop

AT132 as a potentially transformative

product to treat this devastating

rare disease."

ASPIRO is a multi-centre, open-label,

dose-ascending study which will enrol

12 children who are less than five

years old with XLMTM. The study

will compare the safety and efficacy

of three different doses of AT312 in

nine of the twelve participants. The remaining

three participants will be part

of a delayed-treatment control group,

who will be treated once the optimal

The study, led by Dr Kathryn Wagner

of the Kennedy Krieger Institute in

Maryland, USA, examined 94 people

with FSHD, half in Australia and half

in the U.S. The volunteers had genetically

confirmed FSHD Type 1 and were

examined for correlations among disease

severity score, bone mineral density,

blood biomarkers (molecules associated

with bone turnover and health),

strength tests and function.

Overall, the study reported that a diagnosis

of FSHD was not predictive

of decreased bone mineral density or

increased bone fractures. However,

the researchers found that declines in

whole-body and regional bone mineral

density were moderately correlated

with reduced muscle strength and function.

These patients had a higher prevalence

of traumatic fractures, as well as

abnormally low levels of vitamin D3.

By Sofia Nnorom

dose of AT132 has been established.

Primary efficacy analysis will be assessed

twelve months after treatment,

with participants being monitored for

a further four years to assess long-term

safety and developmental progression.

Preliminary results from the ongoing

ASPIRO study are expected by the end

of the year.

In September 2017 Audentes Therapeutics

announced the US Food and

Drug Administration (FDA) granted

Rare Paediatric Disease and Fast Track

status for AT132. In addition, AT132

has also received Orphan Drug status

from both the FDA and the European

Medical Agency. These statuses will

help speed-up the development and

review process of AT132, which will

help get the therapy to patients quicker.

Article online at: http://www.musculardystrophyuk.org/news/news/myotubular-myopathy-gene-therapy-trial-tostart-in-the-uk/

By Jenny Sharpe

“Given the considerable variability

of bone health in the FSHD population,

strength and function can serve

as predictors of bone mineral density,”

the study concluded.

The authors suggested that periodic

bone-density scans should be done in

people with FSHD whose strength and

functional tests indicate a higher risk of

lower bone mineral density. This will

assist doctors in developing effective

treatment plans tailored to individuals

to help prevent fractures and promote

bone health.

The study was funded by a grant from

FSHD Global Research Foundation and

the U.S. National Institutes of Health.

Article online at: http://www.musculardystrophyuk.org/news/news/musclestrength-tests-could-help-to-predictbone-health-in-people-with-fshd/

25


Health

Inspiratory muscle training in children and adolescents with

neuromuscular disease: Never take breathing for granted

By Anri Human

“Life is not measured by the

number of breaths we take,

but by the moments that take

our breath away.”

– Maya Angelou

People living with a neuromuscular

disease (NMD) such as Duchenne

muscular dystrophy (DMD) or spinal

muscular atrophy (SMA) face

the challenge of progressive muscle

weakness caused by their condition.

This weakness is clearly seen

when there is difficulty with walking;

getting in and out of the car; picking

up objects and doing everyday

life activities such as eating and

dressing. In the same way as these

large muscles progressively lose

their bulk, strength and function as

time passes, so breathing muscles

also become progressively weaker.

Breathing muscles include the diaphragm

(the main muscle that assists

in taking a deep breath), intercostal

muscles (between the ribs)

and abdominal muscles. Complications

of breathing muscle weakness

include not being able to expand the

lungs enough to supply sufficient oxygen

to the body; difficulty in clearing

lung secretions because of a weak/

ineffective cough; and frequent lung

infections. The regression of breathing

muscle strength, frequent infections,

difficulty in breathing and decreased

oxygen (hypoxia) lead to

patients experiencing a poor quality

of life. The effects of breathing muscle

weakness become much more

noticeable once a person loses the

ability to walk. Therefore any treatment

that slows down muscle weakness

and keeps a person on their

feet longer may also help maintain

breathing function.

26

The solution might seem simple at

first: if breathing muscles are weak,

they should be strengthened in order

to improve, slow down or maintain

function in the same way as we

try to maintain the function of our

arms and legs. The principle is similar

to strengthening your biceps by

training with a weight or dumbbell.

Devices used for inspiratory muscle

training (IMT) provide resistance

when the user takes a deep breath,

leading to strengthening of the diaphragm.

Although training has been

shown to be effective in athletes and

patients with asthma, IMT in people

with NMD remains controversial.

For this reason we did a study to

find out if training the inspiratory

breathing muscles (especially the

diaphragm) can improve breathing

muscle strength, lung function and

quality of life of the patients using

it. The main parts of the study and

some of our early findings are outlined

in this article.

What did South African

physiotherapists say?

We conducted an electronic survey

to find out how South African

physiotherapists treat children and

adolescents with NMD. Very few

physiotherapists in our country have

clinical experience and expertise in

treating people with NMD, as this

is a highly specialised field. However

most of the physiotherapists

who took part in this survey were

aware of international clinical practice

guidelines and recommended

breathing exercises and strengthening

of the breathing muscles in this

patient group.

An interesting case

Previously published research studies

have suggested that people with

very poor lung function and severe

breathing muscle weakness would

not benefit from IMT and therefore

should not undergo this treatment.

However, we had a case of a

10-year-old girl with advanced spinal

muscular atrophy and severely

affected breathing muscles which

suggests that this might not necessarily

be true in all cases. After only

four weeks of training with a threshold

IMT device (15 breaths, twice

a day) we saw clear positive clinical

effects. Her inspiratory muscle

strength, her posture and her selfreported

health-related quality of life

improved. She rated her experience

with the training regime as 9/10 and

said that she would like to continue,

as it made her “breathing better”.

What did the observational

study reveal?

We then started a small-scale clinical

study among eight children between

the ages of 8 and 17 with a

variety of neuromuscular diseases

(including DMD and SMA). The children

did 30 deep breaths against a

resistance, twice a day, five days

a week, for six weeks. We found

significant improvements in their

breathing muscle strength and the

flow of air they could create with a


deep breath, and, excitingly, we also

saw a marked improvement in the

children’s upper limb function and

coordination.

What was even more encouraging

was the feedback from patients

themselves when asked what they

thought of IMT:

“It is fun and helps me to be able

to run faster and for longer.”

“I can breathe better during the

course of the day.”

“It helps me to improve and keeps

me healthier.”

“I can now come to the physiotherapy

department, or go to

the mall with my mother and do

shopping without getting short of

breath like I used to and have to

take a break before going further

[with her manual wheelchair].”

Furthermore, we noticed other improvements

that we did not expect:

Some of the children had better posture,

improved confidence, reported

that they could sing better as their

voice projection improved, used

their asthma pumps less, were more

motivated and concentrated better

in class, and some even showed

improved academic performance!

Although probably not all of the outcomes

can be directly attributed to

IMT, and some children might benefit

more than others depending on

the disease progression and type of

NMD, these early results are truly

encouraging.

Watch this space:

what is currently being

done?

A randomised cross-over clinical

study is currently being conducted

in Cape Town and Gauteng (mainly

Pretoria) in which approximately

20 children and adolescents living

with NMD are included. Children

in the study train with a threshold

IMT device for three months and

are followed up on for another three

months to see how long the effects

of IMT last. We hope that by the

end of 2018 our results will be able

to guide clinical practice in order to

Health

implement effective and safe treatment

strategies so that we can help

to improve the quality of life for all

people living with NMD.

Acknowledgements:

I would like to acknowledge the following

very important role players:

Profs Brenda Morrow and Jennifer

Jelsma (supervisors); Dr Lieselotte

Corten (research assistant in Cape

Town), Sjaan Flanagan (Powerbreathe),

my colleagues at Red

Cross Children’s hospital (Cape

Town), Dr George Mukhari Academic

Hospital (Pretoria), Nuwe Hoop,

Pretoria and Meerhof schools, and

most importantly all the patients and

their parents who have taken part in

this study or are still part of it. I salute

each and every one of you.

Further information

For further information or any queries,

please contact us at:

anrihuman@gmail.com (Gauteng),

tel. 012 521-4047, or

brenda.morrow@uct.ac.za (Cape

Town)

A little boy with big dreams

Ludick Fouche is 8 years old and is affected with Duchenne

muscular dystrophy. In June 2017, Ludick was given the opportunity

to go for a ride in a chariot pulled by one of our

Muscle Riders cyclists, Angelos Frantzeskos. The ride then

slowly became a more regular occurrence, and before we

knew it Ludick and Angelos were teaming up to take on the

Telkom 947 Cycle Challenge together. After many practice

sessions in Muldersdrift and awesome adventures with the

Muscle Riders team, Ludick and Angelos crossed the finish

line on 19 November 2017 in 4 hours and 32 minutes flanked

by a large group of Muscle Riders who helped. We could not

be more proud, and together with Ludick’s family and everyone

who attended, it was a day we will never forget.

Look out for the April 2018 issue of MDF Magazine, in which

we will revisit the Telkom 947 Cycle Challenge in a big way.

Pictured: Front: Jan Ferreira, Ludick Fouche and

Angelos Frantzeskos. Rear: Anzelle Fouche. ►

27


This makes accessing the tremendous

power of the smartphone so much easier

and places the availability of all of

the items mentioned earlier in this article

right on the tip of my tongue!

My smartphone died the other day,

which led me to put together a list of

items I needed to tote around all day in

order to function normally. It amounted

to quite a staggering collection of items

which include a laptop/PC, diary, reference

books, novels, multimedia discs,

notebook and pen, calculator, GPS,

stopwatch/timer/watch, torch, remote

control for front gate, spirit level, alarm

clock, telephone, video camera, stills

camera, magnifying lens, USB memory

stick, radio, music player, Scrabble,

chess, photo album and sticky notes.

It became clear to me only when I assembled

all of these items just how

much functionality I had placed on my

smartphone. I would consider myself a

relatively "lite" user and certainly not

someone who has the phone permanently

attached to the end of his arm!

No doubt when I first obtained my

smartphone it was intended to be used

as a communication device, but as time

passed and the technology developed,

the phone took on additional work responsibilities

and went from being a

part-time assistant to a full-time employee!

Some people might argue that

the new phones are "employers" by the

way they control our lives, but that is a

debate for another time.

The hopefully temporary hospitalisation

of my smartphone led me to realise

what a valuable contribution these devices

make to the disabled community.

I don't know about you, but I generally

struggle to physically handle items such

as computers, books, remote controls,

etc. I battle to hold them, and my fingers

struggle to operate them. Having

to pick things up and put them down

all the time is really a no-no, and even

more so if they are bulky and heavy.

When I have them all condensed into

one small item, which is easily operated

via a touch screen, then the advantages

become immediately apparent.

ALL-IN-ONE

I shall focus on just one example for a

moment. My Roberts Birds of Southern

Africa guide, which for many years

was a manageably sized printed book,

has in its most recent incarnation become

a monster coffee table book! This

makes it essentially useless to me since

it is impossible to hold the beast, never

mind actually page through it. Even my

able-bodied birdwatching friends have

effectively shunned it. Along came the

Roberts Birds of Southern Africa App

for Android and iOS, which included

all of the information from the book

together with the functionality of being

able to search, listen to bird calls, create

lists, make notes and search maps.

It provided all of the resources of the

book, plus more, in an interactive package

smaller than the size of my hand.

Another feature I have enjoyed using

on my smartphone is the ability to

"ask" it to perform basic and simple

tasks such as dialling a number, sending

a message, opening a particular

application and many more. The very

enthusiastic voice activated Google Assistant

(Android) and the equally helpful

Siri (iOS) are always ready to do

my bidding with suitably phrased voice

commands. They don't always work so

well in a noisy environment, but within

the peace and quiet of your own home

(where no one can see you talking to

yourself on the phone!) it is remarkably

useful.

The opportunity to have my smartphone

function as a remote control device has

provided me with much satisfaction,

and I am looking forward to seeing how

this feature will develop in the coming

years. My previous phone provided remote

control via an infrared port, which

worked very effectively on devices

such as my television, video player, etc.

It was however limited by this communication

mechanism and by whether

one had a phone with an infrared port.

Now you can download applications

which provide remote control for gates

and doors (literally kilometres away

from where you might be sitting) via

the phone's communication mechanism

without any need to have hardware features

such as infrared ports or Bluetooth

connectivity. Coupled to this, you can

connect to video cameras which allow

not only access control but also the

ability to see activity and exactly who

is coming or going.

Somewhere along the line, after my

smartphone died, I think I also missed

the ability to make phone calls! I didn't

notice it at first because all the added

functionality provided for so many of

my needs that the primary goal of the

device was somehow lost in translation.

Having to use a landline phone invokes

a feeling of being in a museum, sampling

a piece of technology from the

past capable of performing only one

task.

I sure hope they can fix my smartphone

soon – all this stuff I now have to carry

around weighs a ton!

28


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.

How to maintain muscle strength

How do I maintain muscle strength if I have muscular dystrophy? Is there

any medication, diet or exercise that is effective?

Muscular dystrophies are a large group of conditions which vary significantly in age of onset, rate of sion and severity. It is thus very difficult to answer the question of how to maintain muscle strength apart from broad general

progresprinciples.

In almost all muscular dystrophies progressive weakness is a key part of the disease, as there is an inherent problem with the structure or function of the

muscle. In addition, it is very hard for people to build new muscle cells after birth. People who do not have muscular dystrophy build muscle bulk by

enlarging the muscle cells they have through exercising strenuously and pushing their limits. The approach as regards people with muscular dystrophy

should be very different.

It is good to work regularly with a biokineticist or physiotherapist who is aware of the specific areas of strength and weakness and can thus provide an

individualised programme for each client. Biokineticists or physiotherapists may also be able to advise on how to use less affected muscles to overcome

weaknesses of more affected muscles, so that function is maintained.

People with muscular dystrophy should make every effort to improve muscle tone and fitness and maintain whatever strength they can. They should not

try to build muscle or strength, as there is a significant risk of further damage to muscles that are already damaged and stressed. Thus, a person should

exercise regularly and non-strenuously. Weights and resistance should generally not be used. Exercise should be aerobic. Individuals need to listen

to their bodies and should stop exercising if they have any pain or fatigue. They should use stretching exercises to increase and maintain the range of

motion and to avoid contractures developing or worsening. It is also important to strengthen stomach and back muscles (both being ‘core’ muscles) as

this can improve posture and balance and enable you to breathe better.

Cardiomyopathies and cardiac conduction defects are very common in several forms of muscular dystrophy. Individuals should be aware that if these

are present they could also limit exercise capacity. Similar principles as those above apply, and exercise should be within the cardiac capacity of an

individual. If there is any doubt about a person’s cardiac status, a cardiologist should be consulted before any exercise programme is initiated.

As in healthy individuals, exercise used correctly can be beneficial in maintaining and improving strength and activities of daily living. Exercise also

reduces fatigue, improves bone density, improves sleep and has positive psychological effects.

Doctor’s

In contrast to the benefits of exercise, there is little to suggest that diet or medication is beneficial in improving muscular dystrophy.

A note on Guillain-Barré syndrome

What is the relationship between Guillain-Barré syndrome and muscular dystrophy?

Although Guillain-Barré syndrome and muscular dystrophy may appear to have overlapping

symptoms of weakness, which can be progressive, they have completely different causes and

disease courses. Guillain-Barré syndrome is a rare condition in which the body’s immune

system attacks the nerves, leading to muscle weakness and even paralysis. Although the exact

cause is unknown, it often occurs after a viral or bacterial infection. The onset may be

rapid, but most people eventually make a full recovery, some more rapidly than others. This

is in contrast to muscular dystrophies, which are due to genetic causes and do not generally

improve after onset but continue to progress.

29


Sandra’s thoughts on…

Feeling lost in life’s maze

Sandra Bredell (MSW)

The feeling of being lost in life has been described in

many ways – like being dropped in the centre of a maze

with no map of how to get out, going around in circles,

ending up in dead ends all the time, going backwards

and forwards but not seeming to make any progress

(Hounsell, 2016, 2017). These experiences may sound

familiar to you because they are real and we all experience

some of them in our life from time to time.

We feel that we are stuck in the middle, moving in circles

and making no progress. We might be feeling walled in

and with nowhere to turn. Maybe we have experienced

a feeling of not having the capabilities for fi nding a way

out of the situation. Why would this be? It might be that

we think we should be able to control where we are going

or where we want to go. Or we might be hoping for

someone to rescue us from this route that is taking us in

circles. Sometimes we do get a glimpse of the pathway

but might think that we do not have the tools to conquer

it. Maybe we accept that we are being guided by a higher

power and that we should be calm and continue with

what we need to deal with. On the other hand, it might

also leave us angry and anxious, resulting in us blaming

others for our situation, blaming people close to us, our

parents, brothers and sisters and being disappointed in

the higher power for not helping us out of this predicament.

That is a lot to think about.

So, how do we navigate our way out of this

maze?

When we fi nd ourselves tied up in the challenges of

life’s maze, we have to keep our focus on the pathway

and not get side-tracked by what people say or what

we think they are going to say, by the economic situation

in the country and the scarcity of water, et cetera.

These are important aspects that can infl uence our life,

but single-handed we cannot solve all of these situations.

Regardless of how much we blame others, we

can choose our emotions to restrict our moving forward

or see this maze as an opportunity to develop life skills,

believe in ourselves and trust the support that people

are offering us in moving forward and making progress.

We can take stock of our capabilities and our support

systems and keep focused. That should build our confi -

dence to conquer the maze.

Remember, even if we fi nd ourselves at the same spot

more than once, we are not falling behind. Life is not a

race and defi nitely not linear. The goal of life is not to get

things done but to allow ourselves to live. We so often

want to be fi nished with pain, doubt, uncertainty and

loss. We want to “solve the maze and get out” (Beck,

2013). But in actual fact it gets us to move out of our

comfort zones and gives us an opportunity to gain more

skills and put them to work.

Maybe we should also see the maze as a safe place

where we can explore what feels dangerous. As 2017

draws to an end, and I do not know where you are in the

maze of life, my wishes are that you will fi nd the maze

also to be a safe place where you can allow yourself

to get to know yourself and trust your abilities to make

a choice to move forward and make progress in 2018.

For those who will be going on holiday, travel safely and

enjoy the time with family and friends. Wishing you a

wonderful and blessed 2018!

Sources:

Beck, M. 2013. The labyrinth of life. Martha Beck. Available

at: marthabeck.com/2013/03/the-labyrinth-of-life

Hounsell, S. 2016. Do you feel like you are lost in a

maze? Sandy Hounsell. Available at: https://sandyhounsell.com/feel-like-i-am-lost-in-a-maze/

Hounsell, S. 2017. Do you feel like you are lost in a

maze? LinkedIn. Available at: https://www.linkedin.com/

pulse/do-you-feel-like-lost-maze-sandy-hounsell

Marshall, J. 2017. Feeling lost in life’s maze? Think

again. LinkedIn. Available at: https://www.linkedin.com/

pulse/feeling-lost-lifes-maze-change-think-again-joemarshall

Pattakos, A. 2012. Life and the labyrinth of meaning.

HuffPost. Available at: https://www.huffingtonpost.com/

alex-pattakos/meaning-of-life_b_1584775.html

30


Golf day

Cape Branch

Our sincere thanks to the Rotarian Club of Goodwood

for the successful golf day on 6 October. A special

thanks to Colin Jacobs and Judy Bird for the effort put

into the arrangements for the day. Once again Anne-

Marie Stoman and Sanjay Narshi were a huge help in

promoting the muscular dystrophy cause.

Wellness health fair

at Bothasig Clinic

On 9 September we joined other NPOs to raise awareness

at the Bothasig Clinic. It was a great opportunity

to promote awareness within our area.

Family fun picnic

World Duchenne Day on 2 September

was celebrated at the beautiful Urban

Park in Green Point. We enjoyed a funfilled

day in the company of friends and

members, with many fun activities for

the children.

31


Cape Branch

Grand West outing

On Thursday 21 September 2017 our MDF children

enjoyed a fun day at our annual Grand West outing.

The group got to do ten pin bowling and played

arcade games to their heart’s content 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. Everyone enjoyed a

lovely lunch at Wimpy restaurant, and each child

received a goodie bag to take home. Our sincere

thanks to Reach for a Dream for their assistance on

this special day. This was once again a wonderful

fun-filled day for our MD children.

Customized backs of

wheelchairs

Our sincere thanks to the Wetterhahn Foundation

for their donation of R50 000, which

was used to update five wheelchairs with

new customised NXT backs. These NXT

backs provide individual customised support

for both back and head if or when necessary.

This new back can be customised to

recipients as they grow and as their posture

changes. This donation has provided both

comfort and safety for the recipients.

32


Gauteng Branch

Muscular dystrophy workshop

By Robert Scott

The morning of 2 September 2017 was a little on the chilly

side, but that did not stop many MDF members from making

their way to the muscular dystrophy workshop at Hope

School in Westcliff.

If you needed MD knowledge, some fun and some great

tasting food, this was the best place to be!

Talks were given by John Rodda (professor of

paediatric neurology at Wits and head of department

at Chris Hani Baragwanath Hospital),

Suretha Erasmus (genetic counsellor), Kerrie

Austin (physiotherapist) and Marinus Mans, who

told his inspirational personal story as someone

affected with MD. We would like to thank them all

for spending the day with us.

Furthermore we would like to thank all of our

sponsors for assisting us with the amazing food!

Thank you to:

A group picture was taken of everyone in attendance with a red balloon to show their support for World

Duchenne Awareness Day on 7 September.

The workshop was informative and enjoyed by all. Lastly, thank you to Hope School, MDF staff and all the

volunteers who helped make the day an amazing success!

33


Gauteng Branch

“Special guests from Prague” MDA Ride

Muscular Dystrophy Foundation Gauteng recently had the

pleasure of meeting some colleagues all the way from the

Czech Republic!

MDA Ride is a group of people who decided to band together

to support those affected with muscular dystrophy

in the Czech Republic, but with a twist. They do it with their

motorcycles! They have been in operation for nine years

and have managed to help many people in this time.

It was an honour to have met these amazing individuals

and wish them the best of luck with their work. We salute

you and thank you for all that you do for those affected with

muscular dystrophy!

By Robert Scott

A feel-good morning held in aid of muscular dystrophy

Saturday 4 November witnessed the inaugural Redhill High School’s wellness

Saturday – something for the body, mind and spirit. The morning was

held primarily to help to raise money and awareness for muscular dystrophy

and MDF Gauteng. The fine, hot day saw 22 enthusiastic, energetic people

attend the 8:00 am to 9:00am boot camp session led by Sonio Fiandeiro,

a Redhill teacher qualified in and passionate about fitness. This raised R1

100. Approximately 100 yoga enthusiasts took part in the 1½-hour SUCO

yoga session from 9:30 to 11:00am. This calmer yet invigorating session

was led by members of the SUCO yoga company. The latter kindly donated

20% of its takings to our cause.

It was heartwarming to note how many participants revealed

a keen interest in the charity and in informing

themselves about muscular dystrophy. Hopefully this

awareness will spread and many more people will support

the 2018 event.

We would like to thank Redhill School and

The Sunshine Collective (SUCO) for their support.

By Michelle Pretorius

34


Gauteng Branch

Thank you Old Mutual Foundation

We are most grateful for your support and wish to express our

deep gratitude to your company for the amount of R125 000

received towards purchasing motorised wheelchairs for people

in need. We appreciate your care and concern for the needs of

people affected with muscular dystrophy.

Thabo Maleho

Thabo Maleho, aged 9, affected with Duchenne muscular dystrophy, has

been assisted with a new motorised wheelchair. His father no longer has to

carry him as he can move around independently. Thabo is very happy, and

his father wishes to thank the MDF for assisting his son with a motorised

wheelchair.

Letsetsa Tobby Maphapo

I am Toby Maphapo and I am from Limpopo. I would like to say thank

you to the Muscular Dystrophy Foundation Gauteng for helping me to get

a new motorised wheelchair. I am thrilled with it and cannot thank them

enough. I am very happy.

Yours sincerely,

Toby Maphapo

German Maleshane

My name is German Maleshane, from Tlamelang Special School, and I would like to take this moment to

thank the Muscular Dystrophy Foundation Gauteng for the new wheelchair.

You guys gave me life, and life is good from now on. I will be able to go to places in my hometown, and I am

also going to Grade 12, so thanks a lot!

You gave me hope and changed my life, and I can also visit my friends and relatives now.

Yours sincerely,

German Maleshane

Tshenolo Molapisi

My name is Tshenolo Molapisi and I would like to take this opportunity to say thank you to the Muscular

Dystrophy Foundation Gauteng for giving me the new wheelchair. I am so happy to have gotten the new

wheelchair.

Yours sincerely,

Tshenolo Molapisi

35


KZN Branch

Casual Day 2017

The Muscular Dystrophy Foundation KZN Branch participated with

Casual Day sticker sales, and were delighted with the sale of 2 598 stickers.

As in previous years, the branch could not have done this alone,

and we wish to place on record our sincere thanks to the following volunteers,

schools and companies that assisted us in our sticker sales:

• Sister Namitha Chabilal from Inkosi Albert Luthuli Central Hospital

• Cornel Smith, management and staff of Reutech Communication

(New Germany, KZN) for their generous donation once again this

year, matching the rand value of the stickers sold

• U & G Fabrics

• Staff, family and friends at Effingham Primary School

• Staff and pupils of Effingham Secondary School

• St Raphael’s School, Montclair

• Volunteers – Cathy Khoon Khoon, Veronique Conner

• Volunteers – Mercedes Benz, Riverhorse Valley

• Bronz Salon

• SA Homeloans, La Lucia

• Parmalat, Riverhorse Valley

• New Frontier Tours, Westville

• Tetra Pak South Africa, Pinetown

• Meltec Agencies, Pinetown

Pictured: Maureen Malinga,

Bronwen Goldstone, Chernice

Singh, Alison Bruce and Adelle

Hayes

The KZN Branch also wishes to place on record our thanks and appreciation to the management and staff at the

Westville Mall for allowing us the use of their premises over a few days. You assisted us greatly in promoting

awareness of muscular dystrophy.

A big thank you and appreciation also goes to Neil Goldstone and Duane Goldstone for generously providing

time from their busy schedules in assisting with the selling of stickers.

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

and contribution again next year!

KZN Branch AGM 2017

The Muscular Dystrophy Foundation held its 43rd Annual General

Meeting on 21 October 2017 at 24 Somtseu Road, Durban. It was

a well-attended meeting, and it was great to see new as well as

familiar faces. The MDF chairman of KZN, Mr Noel Pillay, reported

that this year had been a rewarding year for the KZN Branch

and was proud to say that the KZN office had progressed by leaps

and bounds in pursuing and implementing some strategic goals.

Our treasurer, Mr Raj Mahadaw, gave feedback indicating that,

despite some challenges, all was not doom and gloom. He stated

that we at MDF KZN were ever grateful to our companies and donors

who had loyally supported us during the past financial year,

and it was through their assistance that we could assist in providing

motorised and manual wheelchairs and assistive devices for

those who needed them. He also said that although we would

have liked to assist more people, funding was a challenge.

Pictured: Noel Pillay,

Debbie Goldstone, Dr Pam Rapiti,

Lovina Mahadaw, Namitha Chabilal,

Raj Mahadaw

We are proud to announce that we have a newly elected task force team that will assist the branch in marketing,

the care of people with muscular dystrophy, and fundraising events. Dr Pam Rapiti stressed that the foundation

is here to improve the lives of those with MD and their families.

We would like to once again thank all staff, members, those with MD, and volunteers for attending our AGM, and

everyone 36 for their assistance and support of the MDF KZN Branch!


KZN Branch

Awareness at Genetic Congress

Durban, 2017

The 17th Biennial Genetic Congress was recently held at Elangeni Hotel,

Durban. This was organised and facilitated by a group of enthusiastic and

passionate people working in the field of human genetics in KZN, assisted

by a conference convenor. The theme, ‘Ubuntu genetics: We are because

you are’, focused on community genetics. It was well attended by national

and international delegates including clinicians, geneticists, counsellors,

nurses and allied health professionals. The academic programme highlighted

various aspects of genetics including counselling, clinical cases,

genetic testing available in SA and overseas, and research on various

genetic topics. Learners from Westpark School for Learners with Special

Educational Needs officially opened the congress with their electrifying

rendition of the national anthem and showcased their talents with gumboot

dancing and drums.

An emotional and special tribute was delivered by Prof M Adhikari on the

late Prof WS Winship, known as the father of genetics in KZN.

Pictured: Namitha Chabilal

and Debbie Goldstone

As part of the social programmes, delegates had the opportunity to dress

in colourful traditional wear, apply mehndi and eat traditional Indian

meals at a colourful and entertaining Indian Evening at the Maharani Hotel.

The gala dinner was held at the Ushaka Marine World, surrounded by hammerheads and sharks – it felt as

though we were having dinner on the ocean bed – a breathtaking experience indeed!

MDF KZN was invited to be part of this special meeting by Genetics Alliance SA – an umbrella body for support

groups in SA. MDF KZN being a member of the alliance, we had the opportunity to be part of this prestigious

gathering.

An awareness table was set up and Casual Day stickers and licence disc holders were on sale. This was well

supported by all. Members of the MDF also took the opportunity to market the foundation and its role in the community

and networked with other societies and trade bodies.

Amashova Cycle Challenge

Amashova is a cycle race from Pietermaritzburg to

Durban that took place on 22 October 2017.

In order to raise funds for the Muscular Dystrophy Foundation

KZN, Dr Amith Keshave and his team formed

The 100s Club – to get at least 100 people to support

the team for cycling the Amashova by donating at least

R100 each.

By successfully completing the race, Dr Keshave’s team

managed to raise R23 000 for the foundation. This initiative

was inspired by one of Dr Keshave’s patients, Baby

Arushi, diagnosed with spinal muscular atrophy type 1.

Thank you for your donation and support!

Pictured: Dr Amith Keshave, Namitha Chabilal,

Sonam Nundkissoor (mom), Baby Arushi

Nundkissoor, Akashen Nundkissoor (dad)

37


KZN Branch

KZN Branch Golf Day

KZN Branch Golf Day

By Debbie Goldstone

On 17 September 2017, Fairways Golf Club hosted a golf tournament

in partnership with the Muscular Dystrophy Foundation

KZN Branch at the picturesque Amanzimtoti Golf Course.

Whilst the start of the day was preceded by ominous weather

and light rain, the rest of the day was without rain and presented

the golfers with perfect playing conditions. The club

was gracious in welcoming representatives of the MDF and

promised to consider an annual MDF golf day.

Great prizes were presented to golfers bringing in the top

scores at the end of the day, sponsored by Fairways Virtual

Golf Club and the MDF.

A big thank you goes out to Africa Training Centre for generously

donating R8 000 and to Fairways Virtual Golf Club for

also donating R4 000 to the Muscular Dystrophy Foundation

KZN Branch. Thanks also goes to Indhu Meiser, Executive

Manager of Dash Luxury Apartments, for generously sponsoring

a one-night stay at their luxury apartments.

A great thank you to all who assisted and for allowing us this

opportunity to create awareness and bring in much needed

funds. We raised a total of R13 020 (inclusive of donations

and a lucky draw).

MDF KZN awareness table at

genetics congress

An awareness table was set up at the 17th Biennial Congress

of the Southern African Society for Human Genetics, which was

held on 13 –16 August at the Elangeni Hotel, Durban. The sale of

Casual Day stickers and licence disc holders was well supported

by the delegates. Members of the MDF took the opportunity to

market the foundation and its role in the community.

Thank you for your support!

38

Pictured: Namitha Chabilal,

Debbie Goldstone and

Dr. Pam Rapiti


1 st

WHEELCHAIR

CUSHION

For independent living

sales@wheelchairs.co.za

www.wheelchairs.co.za

Tel (021) 592 3370


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MUSCULAR DYSTROPHY

AWARENESS & RESEARCH

WE NEVER GIVE UP HOPE

Contact us for further information:

The term muscular dystrophy (MD) describes a disorder

that affects the muscles, resulting in progressive

wasting and weakness of the muscle. Symptoms may

appear at birth, in early childhood, or later in life.

Neuromuscular disorders affect not only the muscles

but also the nervous system.

Individuals of either sex and all ages

and ethnic backgrounds can be

affected by MD.

NATIONAL OFFICE

Tel: 011 472-9703

E-mail: national@mdsa.org.za

Website: www.mdsa.org.za

CAPE BRANCH

(Western Cape, Northern Cape & part of Eastern Cape)

Tel: 021 592-7306

E-mail: cape@mdsa.org.za

GAUTENG BRANCH

(Gauteng, Free State, Mpumalanga, Limpopo & North

West)

Tel: 011 472-9824

E-mail: gauteng@mdsa.org.za

KZN BRANCH

(KZN & part of Eastern Cape)

Tel: 031 332-0211

E-mail: kzn@mdsa.org.za

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