MDF Magazine Issue 54 December 2017

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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DF 

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 


account no. 1958323284 


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 


account no. 1069431362 


General MD Information 

Cape Town 

Lee Leith 

Tel: 021 794-5737 

E-mail: leeleith@mweb.co.za 

Gauteng 

Pieter Joubert 

Tel: 011 472-9824 


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 

10 

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 


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. 


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


“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


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. 


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. 


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

SOMEONE I LOVE 

Needs a Cure 

Please Support 

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 


KZN BRANCH 

(KZN & part of Eastern Cape) 

Tel: 031 332-0211 

E-mail: kzn@mdsa.org.za

MDF Magazine Issue 54 December 2017

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