MDF Magazine Newsletter Issue 59 August 2019

Winter Issue 59 

August 2019 

GUESS WHO IS ON THE TELLIE?

DF 

Magazine 

05 MDF notice board 

06 National news 

10 MD information 

MD INFORMATION 

10 Symptoms of Facioscapulohumeral Muscular Dystrophy 

12 Limb-Girdle and Distal Muscular Dystrophies 

Events 

19 MTN Walk the Talk with 702 

People 

20 Danny Kurtzman designs for life 

21 Mountains to climb 

22 Duchenne teen hits the runway 

24 I am God’s masterpiece 

26 It’s beautiful. It’s worth it. It’s parenting… 

28 Slaying warrior 

Research 

29 South African participation in ICGNMD 

30 MRI-guided biopsy shows promise for clinical trials 

31 Serum creatinine levels reflect disease severity in 

muscular dystrophy patients 

Regular Features 

32 The view from down here 

33 Doctor’s corner 

34 Sandra’s thoughts on...hands 

36 On the spot, Scott… 

37 Kiddies corner 

Healthy Living 

38 Living well with a disability 

41 Tips for emotionally coping with Duchenne muscular 

dystrophy 

C O N T E N T S 

Published by: 

Muscular Dystrophy Foundation of SA 

Tel: 011 472-9703 

E-mail: national@mdsa.org.za 

Website: www.mdsa.org.za 

Publishing Team: 

Managing Editor: Gerda Brown 

Copy Editor: Keith Richmond 

Publishing Manager: Gerda Brown 

Design and Layout: Divan Joubert 

Cover photo of TV advert 2019 

Future Issues: 

December 2019 

(Deadline: 1 November 2019) 

The Muscular Dystrophy Foundation 

of South Africa 

We are a non-profit organisation that supports 

people affected by muscular dystrophy and 

neuromuscular disorders and that endeavours to 

improve the quality of life of its members.

From The 

WHEN WAS THE LAST TIME YOU TRIED SOMETHING NEW? 

Trying new things can be very stressful. The fear of the unknown makes us all 

nervous. The fact that we must leave our comfort zone puts us in a vulnerable 

position and leaves us with a multitude of questions running through our heads. 

“Should I be doing this? Can I do this? Do I look stupid? What am I doing!?” 

While it may not feel like it, this is normal and it’s good. 

All too often we let the fear of the unknown stop us from trying something, but 

pushing ourselves is actually good for us. Trying new things not only helps us 

overcome fears but also allows us to expand our minds and learn from new 

experiences … and then there’s the rush! There’s nothing quite like the buzz 

of a new experience. 

I am not saying you have to try something outrageous like jumping out of a plane or joining the circus 

(unless that is something you want to do …) but, to be honest, trying something that’s foreign might just make 

you feel you’re outrageous anyway and leave you with memorable and positive emotions. 

But you don’t have to do something entirely new. Enhancing experiences that already make you happy is 

another way to try something “new” in a less intimidating form. It can be quite boring following the same 

monotonous routine day in and day out. 

The possibilities are absolutely endless when it comes to trying something new, and whether it is extreme or 

just a small hop outside your comfort zone you’ll still reap the benefits. So … go on an adventure, meet new 

people, learn a new skill, and do the things that set your soul on fire! 

Regards 

Gerda Brown 

Thank you, Foghound Studios, for producing an 

amazing advert about the Muscular Dystrophy 

Foundation. 

We are most grateful for your support. 

Foghound Studios offer a complete, in-house and cost-effective solution to 

television and radio commercials, event production and content production. 

They are passionate about delivering quality and value on deadline and within 

budget. 

Thank you, e-TV for airing our advertisement, for 

the whole year, to create awareness about muscular 

dystrophy. 

We are most grateful for your support.

Subscription and contributions to 

the magazine 

We publish three issues of MDF 

Magazine a year and you can subscribe 

online to the magazine or by calling 

your nearest branch. 

If you have any feedback on our 

publications, please contact the 

National Office by e-mail at 

gmnational@mdsa.org.za or call 011 

472-9703. 

Get all the latest news on the fight 

against muscle-wasting conditions and 

the latest research updates. It is our 

editorial policy to report on 

developments regarding the different 

types of dystrophy but we do not 

thereby endorse any of the drugs, 

procedures or treatments discussed. 

Please consult with your own physician 

about any medical interventions. 

If you are interested in sharing your 

inspirational stories, please let us know 

and we'll be in touch to discuss this 

with you. The Foundation would love 

to hear from affected members, friends, 

family, doctors, researchers or anyone 

interested in contributing to the 

magazine. Articles may be edited for 

space and clarity. 

MDF SA database 

If you know people affected by 

muscular dystrophy or neuromuscular 

disorders who are not members, please 

ask them to contact us so that we can 

register them on our database. If we do 

not have your current e-mail and postal 

address, please contact your branch so 

that we can update your details on our 

database. 

How can you help? 

Branches are responsible for doing 

their own fundraising to assist members 

with specialised equipment. Contact 

your nearest branch of the Muscular 

Dystrophy Foundation of South 

Africa to find out how you can help with 

fundraising events for those affected 

with muscular dystrophy. 

Fundraising 

Crossbow Marketing Consultants (Pty) 

Ltd are doing invaluable work through 

the selling of annual forward planners. 

These products can be ordered from 

Crossbow on 021 700-6500. For 

enquiries contact the National Office by 

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.. 

e-mail at national@mdsa.org.za or call 

011 472-9703. 

NATIONAL OFFICE 

E-mail: gmnational@mdsa.org.za 

Website: www.mdsa.org.za 

Tel: 011 472-9703 

Address: 12 Botes Street, Florida Park, 

1709 

Banking details: Nedbank, current account 

no. 1958502049, branch code 

198765 

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 

Robert Scott 

Tel: 011 472-9824 

E-mail: mdfgauteng@mdsa.org.za 

Duchenne MD 

Cape 

Win van der Berg (Support Group) 

Tel: 021 557-1423 

KZN 

Maxine Strydom (Support Group) 

Tel: 031 762-1592 

Cell: 083 290 6695 

Gauteng 

Jan Ferreira (Support Group – Pretoria) 

Cell: 084 702 5290 

Estelle Fichardt 

Tel: 012 667-6806 

Christine Winslow 

Cell: 082 608 4820 

Charcot Marie Tooth (CMT) 

Hettie Woehler 

Cell: 079 885 2512 

E-mail: hettie.woehler@gmail.com 

Facioscapulohumeral (FSHD) 

Francois Honiball 

Tel: 012 664-3651 

Barry Snow 

Cell: 083 66 66 270 

E-mail: barry.snow@worleyparsons. 

com 

Friedreich Ataxia (FA) 

Linda Pryke 

Cell no: 084 405 1169 

Nemaline Myopathy 

Adri Haxton 

Tel: 011 802-7985 

Spinal Muscular Atrophy (SMA) 

Zeta Starograd 

Tel: 011 640-1531 

Lucie Swanepoel 

Tel: 017 683-0287 

5

National 

NICE TO MEET YOU! 

The Muscular Dystrophy Foundation started from humble beginnings with voluntary workers in back rooms of our 

members’ residential homes. The then Muscular Dystrophy Research Foundation of South Africa (MDRF) was founded 

in 1974 by Mr and Mrs Newton Walker, who at the time had a son affected with Duchenne muscular dystrophy. They 

felt there was a need to reach out to other parents and families in a similar situation and also to support research into 

this disease with the ultimate goal of finding a cure. Today the Muscular Dystrophy Foundation of South Africa has 

grown into a registered non-profit organisation consisting of a national office and three branches which operate in the 

nine provinces of South Africa. 

Having been in business for over 45 years, we're proud of the team we've built. Our team of talented, experienced and 

motivated professionals are dedicated to improving the lives of those affected by muscular dystrophy. 

National Office 

Cape Branch 

Gerda Brown (General manager) 

Mariam Landers( Social Auxiliary Worker), Jade 

Fairbridge( Social worker), Vanessa Jordaan 

,Zukiswa Peza ( Social Auxiliary Worker) and 

Vuyokazi Nkonzombi( Social Worker) 

Gauteng Branch 

KZN Branch 

Back: Robert Scott (Business development 

specialist), Rabie Modisane (General Manager), 

Beauty Mathebula (Social worker) 

Front: Mulanga Kharidzha (Social worker), 

Rudzani Mukheli (Social Auxiliary Worker), 

Kagiso Mukuchane (Social Auxiliary Worker) 

Left to right: Noel Pillay (Chairperson); 

Raj Mahadaw (Treasurer); Debra Goldstone 

(Administrator) and Lovina Mahadaw 

(Volunteer).

National 

• National Office – Tel. 011 472-9706 

• Gauteng Branch – Tel. 011 472-9824 

• KwaZulu-Natal Branch – Tel. 031 332-0211 

• Cape Branch – Tel. 021 592-7306 

For many years Casual Day has been a steady favourite on the calendar of many 

of South Africa’s businesses, with some corporates sponsoring stickers for their 

entire staff complement as a corporate social investment initiative. Approximately 

4 500 companies, 100 schools and 400 organisations rendering services 

to persons with disabilities are participating. This year Casual Day takes place 

on Friday, 6 September 2019. The theme for this year is “Time to Shine with 

Persons with Disabilities”. 

Casual Day is one of the fundraising events that we participate in every year in 

order for us to raise much-needed funds towards our cause. We are appealing for 

your kind participation in this fundraising event by purchasing Casual Day stickers. 

You may purchase stickers, as many as you want, at the price of R10.00 per 

sticker. Of this amount, MDF will receive R4.00 per sticker. You can purchase 

your stickers at your nearest branch. 

We hope that you will be able to assist us as your participation will go a long way towards making a difference in the 

lives of our members. 

GUESS WHO IS ON THE TELLIE? 

Thank you to Foghound Studios for our lovely new television advert, and to e.tv for airing it for the year. We are most 

grateful for your support. 

We are most grateful for your support and wish to express 

our deep gratitude to your company for the amount of 

R116 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. 

7

MUSCULAR DYSTROPHY FOUNDATION OF SOUTH AFRICA 

ANNUAL GENERAL MEETING 

Dear Sir/Madam, 

Notice is hereby given of the Annual General Meeting of the Muscular Dystrophy Foundation to be 

held on Saturday, 28 September 2019 at the following venues: 

 

 

 

Cape Branch – 3 Wiener Street, Goodwood 

Gauteng Branch / National Office –12 Botes Street, Florida Park, Roodepoort 

KwaZulu-Natal Branch –Office 7, 24 Somtseu Road, Durban 

The national AGM will be held via skype after the branch AGMs. Please remain at the 

abovementioned venues. 

RSVP: Please let the relevant branch know by 14:00, Monday, 9 September 2019 if you are coming, 

so that we may arrange refreshments. 

Cape Branch: 021 592-7306 

Gauteng Branch: 011 472-9824 

KwaZulu-Natal Branch: 031 332-0211 

If you are not able to attend the AGM, please nominate a proxy on the form below. Kindly post or 

email the completed form to the relevant branch. 

Cape Branch: 3 Wiener Street, Goodwood, 7460 or email Vanessa at 

capemanager@mdsa.org.za 

Gauteng Branch: PO Box 605, Florida Hills, 1716 or email Robert at 

mdfgauteng@mdsa.org.za 

KwaZulu-Natal Branch: PO Box 510, Durban, 4000 or email Debra at 

accountskzn@mdsa.org.za 

Registration and networking start at 9:30 and the meeting starts at 10:00. Please remain for the 

national AGM at the National Office at 12:00, which will be conducted via Skype. Reviews of the 

year’s activities will be discussed and the audited financial statements will be available for perusal. A 

new executive committee will also be elected. You are cordially invited to nominate new members in 

the space provided on the proxy form. Kindly post or email the completed form to the relevant 

branch. 

The previous minutes and the audited financial statements will be available on request from our 

offices. Should you require any further information, please contact the relevant branch. 

We are looking forward to see you at the AGM! 

Kind regards 

8

MDFSA Executive Committee 

I/We will be attending the Annual General Meeting on Saturday, 28 September 2019. 

Name: 

Number of people attending: 

Dietary requirements: 

Nominees for Executive Committee: 

________________________________________________ 

________________________________________________ 

________________________________________________ 

________________________________________________ 

________________________________________________ 

________________________________________________ 

If you are unable to attend, please fill in the following section: 

PROXY FORM 

I, …………………………………………………………………………., of ………………………………………………………………………, 

being a Member of the FOUNDATION, hereby appoint ……………………………………………………………………, 

of ………………………………………………………………………, or failing him/her, the Chairperson at the said 

meeting, as my proxy to vote for me and on my behalf at the Annual General Meeting of the 

FOUNDATION to be held on 28 September 2019 and at any adjournment thereof. 

Unless otherwise instructed, my proxy may vote as he/she thinks fit. 

Name: 

Signature: 

Date: 

___________________________________________ 

___________________________________________ 

___________________________________________ 

9

MD 

Symptoms of Facioscapulohumeral 

Muscular Dystrophy 

Facioscapulohumeral muscular dystrophy is a heritable 

muscle disease, often called FSH or FSHD. Progressive 

weakening and loss of skeletal muscle are its major effects. It 

has significant medical and health impacts on individuals, 

families, and society. (It is also known as Landouzy- 

Dejerine disease, after the two French neurologists who first 

documented it in the late 19th century.) 

By the FSH Society 

FSHD is among the most common forms of muscular dystrophy, 

affecting children and adults of both sexes. The cardinal 

feature of FSHD is the progressive loss of muscle strength. 

The disease’s name comes from the typical pattern of weakness 

at onset: the face (facio), shoulder girdle (scapulo), 

and upper arms (humeral). However, the disease can differ 

in the typical initial pattern of weakness: not every patient 

experiences facial muscle loss, and many develop muscle 

weakness in the legs and torso. 

The symptoms can develop at any age, from infancy through 

advanced age. Many patients recall being unable to whistle, 

smile, or close the eyelids as a child. The majority of males 

are diagnosed by age 20 and females by age 30. About 4 

percent of cases are diagnosed in children under the age of 

5. These early-onset or infantile-onset (iFSHD) patients are 

at greater risk of having more severe symptoms and added 

health complications. 

Although the progression of FSHD is variable, it is usually 

relatively slow. Asymmetry is a hallmark of FSHD. Most 

patients will observe that one arm (or shoulder blade, or 

lower leg) is weakened, while the other remains stronger. The 

reason for this asymmetry is unknown. 

A common first sign of FSHD, asymptomatic 

scapular fixator causing scapular winging and 

difficulty reaching above the shoulder level. Note 

asymmetry. 

Early weaknesses of the muscles of the eye (difficulty 

closing the eye) and mouth (difficulty smiling, puckering the 

lips, or whistling) are distinctive for FSHD. Facial weakness in 

combination with weaknesses in the muscles that stabilize the 

shoulder blades, which result in “winging” of the scapula, is 

often the basis of the physician’s initial diagnosis of FSHD. 

As the disease progresses, the lower and upper leg muscles 

are often affected. About 20 percent of FSHD patients overall 

will become dependent on a wheelchair or scooter. 

Weakness in the abdominal muscles can cause a protuberant 

abdomen and lumbar lordosis (“sway back”). The lower 

10

MD 

abdominal muscles are usually weaker than the upper 

abdominal muscles. This results in a movement of the navel 

toward the head upon flexing the neck. Doctors call this a 

positive Beevor’s sign; it is not seen in many other diseases 

and is a physical characteristic very specific to FSHD. 

FSHD can also have the following non-muscular 

manifestations: high-frequency sensorineural hearing loss in 

ears, respiratory insufficiency, abnormalities of blood vessels in 

the back of the eye, and non-symptomatic cardiac arrhythmias. 

In more than half of people with FSHD, high-frequency 

sensorineural hearing loss occurs in both ears; this should 

be checked in children and adults experiencing hearing 

difficulties. 

Approximately half of FSHD cases also involve 

abnormalities of blood vessels in the back of the eye, but 

these lead to visual problems in less than 1 percent of cases. 

Since these abnormalities are not exclusive to FSHD, one 

must bear in mind that their presence alone in someone at risk 

for having FSHD is not sufficient for a diagnosis of FSHD. 

Respiratory insufficiency is a more common problem, 

especially among patients who have become scooter or 

wheelchair dependent. These patients should have an annual 

consultation with a pulmonologist to monitor respiratory 

function and blood carbon dioxide. 

Symptoms or signs can (but don’t always) include: 

• inability to whistle; 

• inability to sip through a straw; 

• eyes that don’t close fully during sleep; 

• difficulty with sit-ups and pull-ups; 

• shoulder blades that “wing” out; 

• difficulty raising arm above shoulder height; 

• foot drop (foot dorsiflexion weakness); 

• difficulty walking, climbing stairs, or rising from a seat; 

• falling; 

• weak lower abdominal muscles, protuberant abdomen, 

“Beevor’s sign”; 

• curved spine (lordosis). 

Individuals with FSHD, particularly with more advanced or 

severe cases, can also experience: 

• episodes of “malaise” or “burning pain” in muscles; 

• severe pain from changes in posture and strain on 

remaining muscles; 

• chronic fatigue; 

• respiratory insufficiency (potentially life threatening); 

• symptomatic hearing loss; 

• Coats’ disease (symptomatic retinal vascular disease), 

though this is rare. 

Article available at: https://www.fshsociety.org/what-is-fshd/ 

symptoms/ 

11

MD 

Summary of evidence-based guideline for patients 

and their families 

LIMB-GIRDLE AND DISTAL 

MUSCULAR DYSTROPHIES 

By the American Academy of Neurology (AAN) and American Association of Neuromuscular & 

Electrodiagnostic Medicine (AANEM) 

This fact sheet is designed to help you understand the 

current evidence for diagnosing and managing limb-girdle 

muscular dystrophy (LGMD) and distal muscular dystrophy 

(distal MD). 

The American Academy of Neurology (AAN) is the world’s 

largest association of neurologists and neuroscience 

professionals. Neurologists are doctors who identify and 

treat diseases of the brain and nervous system, including 

neuromuscular disorders. The American Association of 

Neuromuscular & Electrodiagnostic Medicine (AANEM) 

is an association of neurologists, doctors of physical 

medicine and rehabilitation (PMR), and other health care 

professionals. PMR doctors specialize in rehabilitation. 

The AAN is dedicated to promoting the highest quality 

patient-centered neurologic care. The AANEM is dedicated 

to advancing the care of patients with muscle and nerve 

disorders. 

Experts from the AAN and AANEM carefully reviewed 

the available scientific studies on diagnosing and managing 

LGMD and distal MD. The following information* is based 

on evidence from those studies. The information summarizes 

the main findings of the 2014 AAN and AANEM guideline 

on LGMD and distal MD. 

What are LGMD and distal MD? 

LGMD and distal MD are types of muscular dystrophy (MD). 

MD is a group of several different genetic diseases. It causes 

muscle “wasting” (thinning). This affects the muscles of the 

arms and legs. In some cases it may affect: 

• Muscles of the face 

• Muscles that control breathing and swallowing 

The muscle weakness is progressive. This means the muscle 

damage gets worse and spreads over time to involve other 

muscles. Muscle weakness can make it difficult to move or 

to lift objects. It also affects posture, or the ability to hold the 

body upright. 

LGMD 

LGMD is a group of several known disorders, sometimes 

referred to as “subtypes.” It gets its name from the 

muscles it affects most. “Limb girdle” refers to the hip and 

shoulder areas, where the limbs attach to the body. The 

affected muscles are also called “proximal” muscles. These 

are the muscles closest to the center of the body. The muscles 

farther away are called “distal.” Examples of distal muscles 

are muscles of the hands and feet. Overall, LGMD mainly 

affects the muscles of the arms and legs. It can sometimes 

affect muscles that control facial movement and swallowing. 

However, some LGMD subtypes can cause heart problems. 

These include weakening of the heart muscle and abnormal 

heart rhythm. Some subtypes also can lead to breathing 

problems. 

LGMD typically develops during childhood or early 

adulthood. However, babies, young children, and the elderly 

also can be affected. The severity of the disease differs across 

subtypes. Some subtypes are mild and mainly cause muscle 

pain. Others can lead to increasing weakness and loss of 

mobility. People who show symptoms of weakness at birth or 

as babies usually get worse faster and have worse symptoms. 

Early symptoms typically include: 

• Muscle weakness in the hips and legs that causes the 

person to “waddle” 

• Difficulty standing up, sitting down, or climbing stairs 

• Trouble reaching overhead, stretching out the arms, and 

carrying heavy objects 

Over time, more severe symptoms may develop in some 

subtypes. These include: 

• Heart problems such as irregular heart rhythm 

• Trouble breathing or swallowing 

In addition, some subtypes of LGMD and distal MD may 

cause: 

• Early onset of “foot drop” (inability to lift the foot up) 

• Arms or legs that no longer straighten 

• Muscle cramps 

• Abnormally prominent shoulder blades (these are referred 

to as “winging”) 

• Enlarged calves (lower legs) 

…. 

LGMD and distal MD complications require many types of 

care, including: 

• Genetic counselling and testing 

• Monitoring for and treatment of heart problems 

• Monitoring for and treatment of breathing problems 

• Speech and language therapy (for speech and swallowing 

problems) 

• Nutritional support (for weight loss from swallowing 

12

problems) 

• Orthopedic therapy or surgery (for muscle problems and 

bone weakness) 

• Physical and occupational therapy, including gentle 

exercise 

• Monitoring for symptoms of sleep problems 

• Medical screening for possible infection (yearly flu shots) 

These therapies involve many types of health care providers. 

Moderate evidence* shows that care should be coordinated 

through treatment centers specializing in MD. 

Recommendations for Clinicians to Manage Complications 

Complication, Recommendation 

Cardiac (Heart) Problems 

Symptom(s)/Diagnosis 

• New diagnosis of LGMD or distal 

MD 

• Specific genetic diagnosis of 

LGMD or distal MD 

• Abnormal ECG or structural heart 

evaluation 

• Episodes of fainting, near fainting, 

or heart beating fast 

• Irregular heartbeat 

• Heart beating unusually fast 

• Signs or symptoms 

Lung/Breathing Problems 

• Diagnosis of LGMD or distal MD, 

especially if breathing problems 

present 

• High risk of lung or breathing 

failure 

Recommendation 

• Refer to heart specialist for 

cardiac (heart) evaluation, even if 

no symptoms 

• Order heart rhythm evaluation 

(Holter monitor or event 

monitor) 

• Refer for cardiac (heart) 

evaluation 

• Order evaluation or testing of 

lung/breathing function 

• Refer for evaluation or regular 

testing of lung/breathing 

function 

MD 

For a summary of the main recommendations for 

management, see the table below. 

More studies are needed to understand better: 

• How many people these diseases may affect 

• The connection between genes and signs/symptoms of 

subtypes 

• How to manage serious complications such as heart and 

breathing problems 

Strength of Evidence* 

Moderate 

Moderate 

• Extreme daytime sleepiness 

• Poor quality of sleep 

• Breathing problems (not enough 

air coming in) 

• Refer for lung/breathing or sleep 

evaluation for possible use of 

breathing machine 

Swallowing and Nutrition Problems 

• Trouble swallowing 

• Problems with foods or liquids 

going into the lungs by mistake 

• Weight loss 

Spinal Deformities and Weak Bones 

• Any diagnosis of LGMD or distal 

MD 

• Spinal deformities 

• Refer for evaluation of 

swallowing and digestion for: 

o Techniques for safe and effective 

swallowing 

o Possible placement of a 

swallowing tube (tube placed in 

the stomach and small intestine to 

help provide food and nutrients) 

• Monitor for development of spinal 

deformities (a spine that is not 

straight) 

• Refer to an orthopedic back 

surgeon for monitoring and surgery, 

if needed 

Moderate 

Moderate 

• Limited or no mobility • Test for weak or fragile bones Weak

MD 

Infection Prevention 


MD 

Rehabilitation Management 


MD 

Strength Training and Exercise 


MD in people who exercise 


MD 

• Recommend pneumonia vaccine 

according to the CDC schedule1 

• Recommend yearly influenza (flu) 

vaccine 

• Refer to a clinic with access to 

multiple specialties designed for 

the care of people with diseases of 

the muscles and nerves 

• Recommend evaluation by a 

physical or occupational therapist 

as needed 

• Anticipate and facilitate patient 

and family decision-making 

related to advancement of disease 

and end-of-life care 

• Prescribe as needed: 

o Physical and occupational 

therapy 

o Tailored bracing and assistive 

devices (such as canes or 

wheelchairs) 

• Educate about signs of muscle 

weakness and damage from 

overwork 

• Educate about safety of aerobic 

exercise with supervised mild 

strength training program 

• Advise about the benefits of 

gentle, low-impact aerobic 

exercise 

• Counsel about staying hydrated 

and exercising moderately 

Moderate 

Moderate 

Moderate 

Weak 

CDC = Centers for Disease Control and Prevention; distal 

MD = distal muscular dystrophy; ECG = electrocardiogram; 

LGMD = limb-girdle muscular dystrophy 

See complete guideline for complete set of recommendations. 

Some recommendations apply to specific subtypes or 

groups of subtypes. 

The Jain Foundation and the Muscular Dystrophy Association 

(MDA) reviewed the content of this fact sheet. Some information 

on disease background was provided by the MDA 

at MDAUSA.org. 

1. Bridges CB, Woods L, Coyne-Beasley T; Centers for 

Disease Control and Prevention ACIP Adult Immunization 

Work Group. Advisory Committee on Immunization Practices 

(ACIP) recommended immunization schedule for adults 

aged 19 years and older—United States, 2013. MMWR Surveill 

Summ 2013;62(Suppl 1):9–19. 

This guideline was endorsed by the American Academy of 

Physical Medicine and Rehabilitation, the Child Neurology 

Society, the Jain Foundation, and the Muscular Dystrophy 

Association. 

…. 

*After the experts review all of the published research studies, 

they describe the strength of the evidence supporting 

each recommendation: 

Strong evidence = future studies very unlikely to change the 

conclusion 

Moderate evidence = future studies unlikely to change the 

conclusion 

Weak evidence = future studies likely to change the conclusion 

Very weak evidence = future studies very likely to change 

the conclusion 

Article available at: https://www.aan.com/Guidelines/Home/ 

GetGuidelineContent/671 

14

MD 

AUGRABIES FALLS NATIONAL PARK 

One should always be careful of perceptions. They have a 

way of surprising you, fortunately sometimes in a positive 

manner. We have always wanted to visit Augrabies Falls 

National Park in the Northern Cape province but could never 

justify travelling that distance (over 1 000 km) for what we 

believed to be no more than a morning's viewing. 

There is a famous statistic that the average amount of time 

spent by tourists at the Grand Canyon in the United States of 

America is 40 minutes. It's approximately the time it takes 

you to walk from the car park to the edge of the viewing 

area, be awestruck by the view, realise that there is not much 

more to do once the photographs have been taken, and the 

walk back to your car. We had the same perception with 

Augrabies Falls National Park. During a recent trip to 

Kgalagadi we decided to append Augrabies Falls National 

Park onto our journey (a detour of approximately 100 km) to 

see it for ourselves. No problem, just an overnight stop and 

we could tick it off our list… . 

It was February and really hot, hovering in the mid-40 

degrees during by midday, which was about the time we 

arrived at the falls after checking into our BnB. The plan was 

to do the falls, spend our 40 minutes there, take photographs, 

and then have the rest of the time free for further exploration. 

Loretta took one look at the cross-country course which was 

labelled as the wheelchair friendly path down to the falls and 

declared that she might be able to get me down there but 

certainly wouldn't be able to get me back up again! It was 

scorching hot, and the accessible path was anything but. 

We retired to our BnB and hatched another plan, extending 

our stay and aiming to tackle the falls at 7 the next morning 

when the gates opened and the temperatures would be more 

manageable. Plan B worked like a charm and we were able 

to spend all the time needed at the falls, listening to the sound 

of the rushing water and the multitude of birds, reptiles and 

other creatures who call the precarious cliff faces their home. 

The wheelchair accessible boardwalk was manageable with 

assistance (really strong assistance) but the first portion 

between the reception area and the boardwalk is just a crazy 

cross-country jumble of sand and stones. We discovered 

afterwards that if one drives past the reception area to 

accommodation Unit 51, just across the small car park 

from the swimming pool, one can gain easy access to the 

boardwalk and follow a far more manageable path. Sections 

of the boardwalk are however very steep and need to be 

handled carefully, even in dry conditions. 

It was at this point in the day that we encountered our 

perception changer. We embarked on a 90 km round trip 

along the Wilderness Road, which carries one west for nearly 

16

MD 

three hours to the kokerboom forest and then returns on a 

loop road. The falls were impressive and interesting, but the 

road trip through the park was awe-inspiring! The geology 

is mind blowing and we were constantly shaking our heads, 

wondering what sort of tectonic forces must have taken place 

to create the incredible rock formations we were encountering 

on the drive. Black rocks and red rocks larger than motorcars 

sprinkled in huge piles as if by hand. Trees growing from 

rock bases with no apparent soil. Fields of quartz, the pieces 

ranging in size from larger than your fist to smaller than your 

thumbnail, stretching down the hillsides, almost looking like 

snow in the bright sunlight. Sadly the kokerboom forest at 

the end of the Wilderness Road has been fenced off and 

electrified to prevent damage from traffic and tourists. 

Fortunately we encountered enough amazing old 

kokerbooms along the way to satisfy our needs, some even 

sporting huge sociable weaver nests in their branches. We 

encountered giraffe, kudu, springbok, baboon, vervet 

monkeys and even noticed the paw prints of a rather large 

cat in the road. Leopard? Caracal? The birdlife is plentiful, 

from the smaller bush birds to the larger raptors, and even a 

fish eagle flying down the canyon. Along the route we were 

able to detour to lookouts which provided different views 

of the canyon and further opportunities for some dramatic 

panoramas. 

We had tried to book accommodation inside the park but 

been told that a large motor vehicle manufacturer had 

booked the entire camp for the month of February. We 

managed to source a wonderfully wheelchair accessible room at 

Augrabies Valle Guesthouse, less than 1 km from the gate, for 

two-thirds of the SANParks price. When we were making 

enquiries about the wheelchair accessible cottages at the park’s 

reception, the staff seemed surprised we had not booked with 

them, which made sense because there was very little sign of 

the motor vehicle manufacturer’s test vehicles in the park. 

The park’s wheelchair accessible chalet (CH2Z) was not 

really accessible despite the park’s hospitality manager very 

proudly telling us about its conforming to “universal access” 

standards. She could not explain why the dining table was 

the height of a serving counter, and despite my having an 

extremely narrow wheelchair I was not able to gain entry to 

the unit through the paved entrance. I would have to tackle 

another cross-country track in order to reach the front door, 

impossible alone and very difficult even with assistance. An 

exercise in why the concept of “universal access” just doesn't 

work. We were very happy to have booked accommodation 

outside of the park. 

Augrabies Valle Guesthouse is something of a gem. Whilst 

not perfectly wheelchair accessible, it is far better than 

most. Ridiculously spacious (one could hold a not-so-small 

party in the living room), with an equally large bathroom 

sporting a roll-in shower and plenty of lateral access to the 

toilet. Its only downfall was the lack of grab rails. The room is 

self-catering with a superbly equipped kitchen, all accessed 

from a large level veranda which is connected to the car park 

via a gentle ramp. Just 1 km back down the road one finds the 

privately run Augrabies Falls Lodge, which is really the best 

choice for dinner and is accessible to boot. The two combine 

effortlessly to make staying outside the park a no-brainer. 

SANPark accommodation failures aside, Augrabies Falls 

National Park is more than just the waterfall, much more. 

When the Orange River is in flood it must be spectacular 

and the noise of the water rushing over the falls must be 

deafening. But even on a normal day in February it was 

worthy of a couple of days spent exploring the entire park, 

which took us a little longer than the obligatory 40 tourist 

minutes. 

17

National 

SAVE THE DATE 

SEPTEMBER IS MD 

AWARENESS MONTH 

Because public knowledge of muscular dystrophy is 

limited, attitudes towards people with muscular dystrophy 

are sometimes based on ignorance and can cause 

humiliation. Some might even believe that people with 

muscular dystrophy could do more if they just tried 

harder, or that they pretend to be unable to do something 

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

exercise more they would become stronger. When people 

are properly informed about muscular dystrophy, their 

attitudes and behaviour towards affected people 

become more reasonable and sensitive; thus, discussing 

disability increases understanding and tolerance. This 

helps to minimise the psychological stress that muscular 

dystrophy sufferers might otherwise experience when 

interacting with others. 

September is International Muscular Dystrophy 

Awareness Month, which is an important time for all 

persons affected by muscular dystrophy. In order to 

celebrate this special month, the National Office will run 

an online awareness programme called “Get into 

the Green Scene” – green being the colour of the 

muscular dystrophy awareness ribbon. 

The objectives of the programme are two-fold: 

Firstly, all the MDSA Facebook followers are 

requested to change their Facebook and WhatsApp 

profile pictures to the “Get into the Green Scene” 

logo. 

Secondly, our Facebook followers and members 

are invited to share photos on our Facebook wall 

of where they have “gone green”. 

Please contact Gerda Brown by phone 

(011 472-9703) or email (gmnational@mdsa.org. 

za) should you have any enquiries. 

Let the creative juices flow and show us how you 

“go green” for muscular dystrophy! 

18

MTN Walk the Talk with 702 

By Gerda Brown 

Events 

The sun rose on the chilly Sunday morning 

of 28 July 2019. Along with thousands of 

others, the Muscular Dystrophy Foundation was 

making their way to MTN Walk the Talk with 

702. 

Our mission was simple, raise awareness for 

muscular dystrophy by taking part in the 5km 

and 8km fun walks. The group doing the 5km 

walk made their way to the start line a little 

after 11:00 and crossed the finish line at 

approximately 12:15. This was no straight 

forward walk; we were doing so while pushing 

a manual wheelchair with a person affected by 

muscular dystrophy. Along the way we were 

joined by a very special boy, also affected by 

muscular dystrophy, and his family. 

Thank you to everyone who joined us on the 

day and made the MTN Walk the Talk with 702 

an overwhelming success for MDFSA!! 

Remember to keep the end of July open in your 

diaries to join us next year. 

19

People 

DANNY KURTZMAN 

DESIGNS FOR LIFE 

By June Kinoshita, FSH Society 

Originally published in FSHD Advocate 

2019, Issue 1, p.14 

The headquarters of Ezekiel Clothing is tucked in 

a bland office park in Irvine, California, but inside 

it’s anything but bland, with its too-cool-for-school 

interior of concrete, charred timber, and smoky steel. 

When I arrived there, tapping tentatively on an 

unmarked, tinted glass door, I wondered if I had come 

to the right place. Soon, a shadow darted up behind 

the dark glass, and the door swung open to reveal 

Danny Kurtzman, perched on a red scooter. 

Kurtzman, 31, is co-owner of the company. With 

his russet hair, trim beard, and piercing gaze, he is 

an undeniable presence. Although FSH muscular 

dystrophy has taken a toll on his muscles, his mind 

is constantly on the move, twirling and swooping like 

the surfers and skateboarders to whom his clothing 

line appeals. 

Kurtzman and his younger brother (who passed away 

in 2008 from FSHD) were diagnosed in childhood. 

“My parents told me and my brother that you’re 

going to public school. You’re playing baseball. You’re 

not made out of glass,” he said matter-of-factly. That 

can-do attitude shaped how his friends saw 

him. “They never looked at me like ‘you have a 

disability.’” 

After graduating in 2009 from Loyola Marymount 

University in Los Angeles, where he studied business 

administration in entrepreneurship and marketing, 

Kurtzman went into the family’s garment manufacturing 

business. The company bought Ezekiel Clothing, 

which does private label for retailers like Nordstrom 

Rack and Stitch Fix, and Kurtzman mastered the 

complexities of running the enterprise. 

On the day of my visit, Kurtzman was excited about 

his latest brand, ALDAY Denim, a line of knit denim 

men’s pants that combines the comfort of sweatpants 

with the swagger of denim. His team was about to 

launch a Kickstarter, which would raise $67,000 to 

jump-start the brand. Kurtzman is passionate about 

20 

great design, particularly universally accessible 

design. He invested in WHILL, a company that makes 

wheelchairs with the sleek appeal of an iPhone, and 

offered advice to improve the design. He recently flew 

to San Francisco for a two-day hackathon at Google, 

putting together a wheelchair that can be controlled 

by an Android app. 

Outspoken in his belief that “FSHD doesn’t define 

me,” Kurtzman is an avid supporter of Life Rolls On, 

a California nonprofit dedicated to improving the 

quality of life for people with disabilities through 

adaptive skateboarding and surfing. 

Right now, Kurtzman is completing an extensive 

renovation of his new home in Costa Mesa. The 

house embodies universal design, he said proudly, 

with all smart home features, zero steps or 

thresholds, wide doorways, and accessible 

bathrooms. 

Asked about his philosophy for living, Kurtzman 

replied, “Giving up isn’t a choice I give myself. I do 

whatever I put my mind to, regardless of how big the 

obstacle is, but that’s what makes overcoming them 

that much sweeter. 

“It’s been amazing meeting more people that share 

the same mentality, and I hope to meet many more 

through this Society,” he said. “And to those who 

share this disease but not my mindset of never 

giving up, feel free to contact me. Sometimes you 

need a friend or a brother like the one I was very 

lucky to have to kick you in the butt.” 

Danny Kurtzman can be reached through his 

Instagram account @heavydk. 

Article available at: https://www.fshsociety.org/wpcontent/uploads/2019/04/FSHD-Advocate-Magazine-2019-Issue-1-FINAL.pdf

People 

MOUNTAINS TO CLIMB 

By Neenah Williams, Colorado Springs, Colorado 

Originally published in FSHD Advocate 2019, Issue 1, p.17 

I was diagnosed with FSH muscular dystrophy at the 

age of 16. I am now 27 years old and have started to 

feel more of its effects. From an early age, I began to 

lose the ability to lift my arms higher than 90 degrees. 

That never stopped me from doing the things I enjoy, 

most of all dancing. 

Fast forward to Christmas 2017. I was driving back 

home from visiting my family, and I had a thought – 

that I should do something wild and spontaneous in 

2018. Life is too short, and I hadn’t been on a real 

vacation in a long time. I had a truly random idea that 

it would be awesome to climb Mt. Kilimanjaro. 

I wasn’t sure what country Mt. Kilimanjaro is in or 

what type of climb it would be. I honestly decided to 

go on a whim. However, I believe that everything 

happens for a reason. So I researched the climb 

and, a couple of weeks later, I booked my trip to 

Tanzania. 

At the time, I had never experienced weakness in my 

legs. But sometime last spring or summer, I noticed 

that my thighs were beginning to get the hollow 

feeling that I have come to associate with rapid 

muscle deterioration. About a month before my trip, I 

realized that I could no longer walk on my heels, and 

when hiking in preparation for my trip, I began to fall 

a lot more. 

A couple of weeks before I left for Tanzania, I scaled 

Pikes Peak in Colorado, 14,115 feet in one day. Three 

weeks later, I successfully summitted Mt. Kilimanjaro, 

the highest mountain in Africa, at 19,341 feet. It 

was one of the proudest days of my life. The ascent 

took six days, and I carried my 15-pound daypack 

the whole time. It was more weight than I had ever 

carried on a hike, and was a challenge both mentally 

and physically. Also, altitude sickness was a concern. 

We were required to walk very slowly to keep our 

heart rate down. 

The hikes each day ranged anywhere from four to 

seven hours. On summit day, the trek took about 11 

hours, because we climbed to the summit from base 

camp and then returned to a camp at a lower altitude 

all in the same day. 

On the day we reached the summit, I stood on top of 

Mt. Kilimanjaro with about 400 other hikers, unfurled 

my “Stronger than FSHD” sign, which I had made 

months earlier, and took my summit photo. I wanted 

to show this to all my friends who are struggling with 

FSHD. I doubt anyone else on the summit that day 

had FSHD, and for that I am proud. I had just begun 

to notice new weaknesses in my body, but did not 

allow that to stand in my way. 

Many times, it feels like we stand alone against 

FSHD. My advice is to take things one step at a time, 

push your limits whenever you can, and soon you’ll 

be standing on top of the world. 

Article available at: https://www.fshsociety.org/wpcontent/uploads/2019/04/FSHD-Advocate-Magazine-2019-Issue-1-FINAL.pdf 

21

People 

DUCHENNE TEEN HITS 

THE RUNWAY AT LAS 

VEGAS FASHION SHOW 

By Mary Chapman 

Originally published in 

Muscular Dystrophy News, 

15 May 2019 

Joey Chorzewski has Duchenne muscular 

dystrophy, a neuromuscular disease that makes 

him different from most of his peers in Marshfield, 

Massachusetts. But in other ways — like wanting to 

wear the same kind of clothing his friends wear — 

he’s a typical teenager. 

Joey Chorzewski, 18, gives the thumbs-up at the 

Runway of Dreams fashion show in Las Vegas. 

(Photos courtesy of the Chorzewski family) 

Besides offering a variety of programs and 

awareness campaigns, the New Jersey-based 

foundation recently co-hosted its Zappos Adaptive 

and Runway of Dreams Foundation Fashion Show 

featuring 30 models with different disabilities. A 

collaboration with Zappos Adaptive— a division 

of the online retailer that markets to people with 

disabilities — the livestreamed March 27 event 

in Las Vegas spotlighted the future of adaptive 

fashion. 

Under a large tent before the show, he and 

others mingled and had their hair and makeup done. 

There was food and drinks, and Zappos provided a 

volunteer to help each participant. Then, Joey 

motored down the outdoor catwalk in front of 2,000 

spectators, stopped, did a thumbs-up with both 

hands, and turned around. 

“When he came out, I was like, ‘wow,’ ” his 

mother said. “I was in tears. And to see how brave all 

the kids are. It was awesome, more inclusive than 

anything we’ve experienced.” 

A future in modelling? 

The whole modelling concept sprung from the 

teenager’s desire to wear jeans and, well, anything 

other than the myriad sweatpants he has just 

because they’re easier to handle. 

At the show, Joey, 18, maneuvered the runway in 

his motorized chair wearing dressy black pants with 

elastic around the bottom of the legs, a red shirt 

with hidden magnets instead of buttons, and athletic 

shoes with zippers and Velcro. His mother, Denise 

Chorzewski, said in a phone interview that the Nike 

outfit, which the show provided, had been adapted 

by Zappos. 

At the foundation’s June 2018 show — which kicked 

off Fashion Week in New York City — Joey wore a 

gray fleece jacket with Velcro in the back. Because 

it was his first modelling gig, he was admittedly 

nervous. His second show, though, was “exciting.” 

In fact, he called it the best day of his life. 

“Everything was great,” said Joey, who graduates 

from high school this month. “My teachers all 

congratulated me and everything.” 

22

People 

Joey’s parents do what they can to help him feel 

more fashionable, including having jeans or 

khakis professionally fitted with elastic. But that’s 

time-consuming and expensive. As it is, he uses 

a combined standing sling and lift to help him get 

his pants on. Because he can’t raise his weakened 

arms that high, pullover tops are also a problem. 

His mom had gotten wind of the adaptive wear 

shows, and she thought it was something her 

outgoing son would enjoy, even though Joey had no 

modelling experience. 

“I wanted to show that people with disabilities can 

wear fashionable clothes too,” she said, recalling 

how 15 people were selected out of 500 applicants. 

Chorzewski hopes to model again next year. An 

only child who was diagnosed with Duchenne at age 

3, he’s always been a bit of a ham. When he was 

younger, he used to act on stage in plays. 

“It made him feel alive,” his mom said. “He would 

smile the entire time.” 

But when he turned 12 and began using a 

wheelchair, Joey didn’t want to perform anymore. 

Still, he remains active. He enjoys his friends, likes 

to travel and watch movies, and is a bit of a food 

critic. 

Joey could soon receive a robotic arm; the family 

awaits an insurance decision on that. Besides his 

medications, the teenager has physical therapy 

three times weekly. 

Adaptive clothing is big business 

Despite Duchenne’s progressive nature, it’s not the 

disease itself that occasionally gets Joey down. 

When he’s feeling sad, it’s usually about not being 

included. 

Feeling better about his clothing could help. His 

parents have ordered from Zappos’ adaptive 

line, and plan to order more. The division offers 

everything from “wheelchair friendly” shoes and 

clothing to “treatment wear.” Adaptations include 

snaps and hooks instead of buttons, adjustable 

hems on shirt sleeves, pant legs for those with limb 

disparities, and back-of-dress openings that let 

patients dress independently. 

Joey Chorzewski, 18, with his 

parents in Las Vegas. 

The industry is already big business. According to 

consultants, the global market for adaptive apparel 

could reach nearly $289 billion worldwide this year, 

and $350 billion by 2023. 

A few years ago, after collaborating on Runway 

of Dreams, Tommy Hilfiger — in partnership with 

Zappos — introduced an adaptive apparel line. 

Other major brands, including Target and Nike, 

have since joined the fray. Yet many mainstream 

retailers overlook these prospective customers, 

leaving medical supply firms as the chief source of 

specialized clothing. 

Mindy Scheier established the Runway of Dreams 

Foundation in 2015 after her young son, Oliver 

— who has a rare form of muscular dystrophy — 

couldn’t understand why he could not wear jeans 

like other boys did. 

Scheier, a fashion industry veteran, knew that sweat 

pants fit nicely over Oliver’s leg braces and enabled 

him to use the bathroom on his own. So she decided 

to alter a pair of jeans for him. 

The foundation states on its website: “Through 

adaptive clothing donations, employment opportunity 

initiatives, adaptive design workshops, 

awareness-building campaigns and scholarship 

programs, the Runway of Dreams Foundation is 

empowering people with opportunity, confidence, 

independence and style.” 

As for Joey, his life philosophy is sanguine. 

“It’s just good to stay happy,” he said. “You only live 

once, so make the most of it.” 

Article available at: https://musculardystrophynews. 

com/2019/05/15/duchenne-teen-hits-the-runwayat-las-vegas-fashion-show/ 

23

People 

I AM GOD’S 

MASTERPIECE 

By Mohini Jackson 

“For we are God’s masterpiece. He has created 

us anew in Christ Jesus, so we can do the good 

things he planned for us long ago.” Ephesians 

2:10 

I was born on the 31st of January 1991 in 

Johannesburg to Mano and Rani Naidoo, who were 

blessed with a little baby girl whom they would love 

and care for. At the time I don’t think even they knew 

just how special they were that God had carefully 

chosen and tasked them with caring for a child with 

special needs. Let me take you through the journey 

of my life… 

In 1996, I was diagnosed with Charcot-Marie-Tooth 

muscular dystrophy. At the tender age of five I did 

not understand what was happening to me and the 

doctors’ rooms were a place I would visit regularly. 

If I remember correctly this meant frequent trips with 

mum and dad to the hospital, which to me became a 

normal part of my life story. At the time, there were 

so many questions, especially “what is wrong with 

me?” and of course “why me?” It was time for my 

enquiring mind to start writing the story of Mohini. 

I cannot remember a time when I could run or jump 

or be active, but that’s okay because I don’t feel I 

have missed out on anything as I have had such 

a full life with so many amazing experiences and 

the love of so many people. I have had numerous 

surgeries over the years with the most recent being 

last year, in 2018, which have all helped me to walk 

better, but now I have started using a wheelchair as 

I can no longer walk for long periods. It took me a 

long time to get to this point as I did not want to use 

a wheelchair, but I have realized that if it can make 

my life easier, why not? 

My family have always been my driving force. My 

mum, dad and older brother have been my support 

throughout my life, not only taking on the task of 

caring for me but never making me feel I was ever 

a burden to them and always ensuring I had every 

opportunity to experience the best things in life. My 

parents instilled the word of God in me and always 

taught me to trust in the Lord. 

I attended Daxina Primary School in Lenasia South, 

where I was blessed with amazing teachers and 

friends who assisted me to get through day-today 

activities. At that time, I was not so weak and 

could get around on my own but still needed some 

assistance in carrying my bags, etc. It was also the 

place where I met my husband, but I’ll get to that a 

bit later. I then attended the National School of the 

Arts in Braamfontein, where I specialized in music. 

My time there was amazing and one I am honoured 

to have had. It was filled with many challenges, but 

once again the Lord was watching over me and 

sent me friends who became my support system 

not only physically but emotionally as well – from 

carrying my bags, to picking me up when I fell, and 

literally carrying me to class when I did not have the 

strength to make it up the many stairs. 

I matriculated in 2008 and went on to the 

University of the Witwatersrand to study Social Work. 

Once again university proved to be a whole new 

24

People 

experience, with its own challenges, but I am so 

grateful to have been given the opportunity to study 

at such a world class institution and am proud of all 

I accomplished during my time there. I remember 

being terrified on the first day, trying to figure out 

how I was going to navigate myself through the 

campus, which is massive, and again the Lord was 

on my side, watching over me, and sent me friends 

who took on a pivotal role in my university journey by 

assisting me around and always being there when 

I needed support. Furthermore, I found a sense of 

belonging at the Disability Unit, which became my 

safe space, and the staff, who became like family, 

were amazing in assisting to make the University 

experience more accommodating. I am proud to be 

a Wits graduate and hold my honours degree in 

Social Work. I remember walking across the Great 

Hall stage at graduation – I was so scared of falling 

and couldn’t wait to get to the end, but the sense of 

joy I had then was one of the best moments in my 

life. 

I am currently employed as a social worker in 

the Department of Social Development and 

specialize in statutory work. I got married in 2015 to 

Justin, whom I met in primary school, as mentioned 

earlier; he still claims that he loved me from that 

time. We’ve now been together for eleven years 

and married for four. Having my parents walk me 

down the aisle was another of the most amazing 

moments in my life because I never really thought 

it would happen. I am so grateful that the Lord 

was instrumental in sending Justin into my life – a 

man who has accepted me for who I am and loves 

and cares for me as best he can. We have been 

privileged to travel overseas together and hope to 

have many more trips abroad; we also hope to start 

our very own family soon. We are looking forward to 

our future together, and even when life gets tough 

we find comfort in knowing that God has a plan for 

our lives. 

We are so blessed in sharing not only a love for 

each other but also a love for the Lord. We are part 

of the JLC Outreach Team, in which Justin plays 

a guitar and I am a vocalist. Our vision as a team 

is “Making a difference, impacting the nation”. We 

have been blessed with gifts and abilities that we 

want to use to bless the heart of the nation. In 

doing so we not only use music to touch the lives 

of people but also reach out to make a difference in 

the lives of people in need. 

I want this story of my life to encourage others to 

know that despite their setbacks in life they are 

capable of doing everything that able-bodied 

people can do and should never sell themselves short. 

God sends people into your life for a reason, and I 

believe that every single person in my life has played 

a role in defining the person I am today. When I 

have bad days and my body is so weak that I 

cannot move or do the most menial tasks, I cry and 

get angry but then pick myself up, pray and ask God 

for renewed strength. 

I believe that I am God’s masterpiece. I may walk a 

bit funny and look a bit different, and the world may 

see me as “imperfect”, but I know that He has a plan 

and purpose for my life and I am choosing to trust 

in that plan. 

My School Card 

MySchool is South Africa’s biggest community-based 

fundraising programme and raises over R4 million 

every month for schools, charities and animal welfare 

organisations. 

Every time you swipe your MySchool card at any 

of the partner stores they make a donation on 

your behalf to the beneficiary of your choice. 

Please ask friends and family members to sign up for 

a MySchool card and make the Muscular Dystrophy 

Foundation of South Africa your chosen beneficiary, 

which means the MDF would receive a percentage of 

the purchase value whenever the card is used. 

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

Sign up at www.myschool.co.za 

25

People 

IT’S BEAUTIFUL. 

IT’S WORTH IT. 

IT’S PARENTING… 

By Doné & Hantie Van Eyk 

Muscular dystrophy was never a “household term” 

in our family and was simply not something we were 

familiar with until Lian came into our lives. Lian was 

our little surprise “laatlammetjie” baby. With two 

other children in the house (now 11 and 17 years 

old), we had not been sure that we wanted more 

kids until the two stripes on the pregnancy test 

confirmed a brand-new baby on the way. Never in 

our wildest dreams could we have imagined the joy 

but also challenges that would come with this sweet 

little blue-eyed boy. 

Lian was born on 1 November 2019. Our small 2.4kg 

boy, who could fit into a shoebox, was supposed to 

make his grand entrance into this world two weeks 

later but decided it was time to grace us with his 

presence. Even though Lian was born two weeks 

early there was no indication anything was wrong. 

He was a bit “floppier” than our other children but 

reached all his milestones up to six months. It was 

only at about seven months that we realised Lian 

didn’t lift his head anymore while lying on his tummy 

and would push his head along on the floor when 

he moved around. With no sign that he was about 

to crawl at nine months we decided to take him to 

our paediatrician, who referred us to a neurologist. 

After numerous tests and a muscle biopsy the 

neurologist confirmed that Lian had muscular 

dystrophy. Following an initial diagnosis of LGMD 

(which didn’t make any sense due to his age) we 

decided to do a genetic test, which was sent off to 

the United States. On 5 October 2017 we received 

the final diagnosis of LMNA-related congenital muscular 

dystrophy. 

LMNA-related disorders are caused by mutations 

in the LMNA gene, which encodes for the nuclear 

envelope proteins, Lamin A and C. The website 

Cure CMD explains: “LMNA-CMD is predominately 

congenital and on the severe end of the spectrum. 

Affected individuals have weak neck and axil 

muscles, can develop “dropped head” syndrome 

and may not achieve sitting. Contractures of the, 

spine, hips, knees and Achilles tendons are 

involved. Scoliosis and spine rigidity can develop. 

Some affected individuals can achieve walking but 

will lose that ability later. Respiratory insufficiencies 

develop requiring intervention. Cardiac conduction 

abnormalities can occur.” 

Currently Lian is still able to sit and “bum-shuffle” 

although he is doing this less as it becomes harder 

to do. He was never able to walk and doesn’t have 

neck control. He needs to take beta-blockers to 

26

People 

regulate his heart rhythm and sleeps with a 

BiPAP machine (oh the joy of getting a threeyear-old 

sleeping with this “toy” – many will testify 

how difficult it is just to get a three-year-old into 

different coloured pyjamas). At the age of two 

Lian got a MIC-KEY (a tube directly linked to his 

stomach) to help with additional feeding as he 

doesn’t gain sufficient weight. The doctors also 

confirmed that Lian is already in the first stages of 

scoliosis. 

Small things that come with no effort for us are a 

huge challenge to him, like simply lifting his arms. 

However, none of these challenges can dampen 

the brave and joyful spirit of this young boy. No 

matter what challenges Lian faces he always has 

a smile on his face. He is a little “chatterbox” who 

amuses everyone with his humour and cute 

personality. He absolutely loves driving around in 

his power wheelchair, chasing his brother and 

sister around the house. He gets excited about 

everything and is always ready for whatever life 

throws at him. Obviously having a three-year-old in 

a power wheelchair has caused many bumps and 

bruises, and the furniture in our house needs to be 

moved around a lot to make way for his adventures, 

but that is the least of our worries. 

Being a mom and dad of a young boy with special 

needs comes with many challenges. Ellen Stumbo, 

referring to an essay “Notes from the deep end” by 

Jennifer Blougouras (also a special needs mom), 

writes that “becoming a special needs parent feels 

like being pushed into the deep end of a pool, 

and you don’t know how to swim. … So you kick 

frantically, gasp for air, and fling your arms hoping 

to find something – or someone – to hold on to. 

Suddenly, because your survival depends on it, you 

figure out how to float”. 

No-one ever plans to be a special needs parent. In 

our case, there is absolutely no reason why Lian 

should have muscular dystrophy. It was not passed 

on through hereditary family genes – for some 

obscure reason it just happened. On more than one 

occasion we’ve asked ourselves the question how 

something like this just happens? Why our little 

boy? And what makes it worse are the seemingly 

“helpful” words from individuals who do not 

understand how to handle the topic. As a 

special needs parent, you frequently hear people 

saying things like “I don’t know how you do it – you 

are so strong” or “Special kids are only given to 

special parents”. The constant response to these 

statements is the assurance that you are not any 

stronger or more capable than anyone else and that 

you definitely didn’t receive any special abilities or 

skills to raise your child. 

An important choice we made after Lian’s diagnosis 

was to never sit back and see our son suffer from 

an incurable disease. It doesn’t matter how unfair 

we feel it is, it must serve a purpose. Even though 

we are in this crazy battle of unknowns, Lian’s 

diagnosis opened doors for us to reach out to other 

parents. We were given a chance to remind people 

of the Hope we have in Jesus. We would never have 

been able handle Lian’s diagnosis without the Grace 

of God, and that Grace is the one thing we cling 

to while fighting muscular dystrophy. That Grace 

is the most important thing we want to share with 

other parents who face the same heartache and 

challenges we do. 

Yes, life is hectic being a special needs parent. 

Weekly therapy sessions and doctors’ appointments 

do take their toll and increase stress levels. Those 

dreadful appointments that confirm your child’s 

health is regressing. Those times you look at 

photos or videos and realise that your child is 

not able to do whatever he was able to do just a 

few months ago. Juggling activities. Marriage. 

Unaffected siblings. Work and other responsibilities. 

It may seem overwhelming at times, but you learn 

to manage and stay afloat. And, even though you 

feel as if all these things are engulfing you, the 

rewards of raising a special needs child are simply 

unexplainable. 

Is there any joy in raising a child with special 

needs? ABSOLUTELY YES! We never thought that 

a small boy of only three years old could teach us 

so much about life and inspire others. Raising Lian 

opened our eyes to a world we never would have 

experienced otherwise. It teaches you more about 

patience, unconditional love, hope and grace. You 

get a different perspective on what matters in life. 

You suddenly realize that time is a precious gift and 

you never know when things might change. You 

recognize the significance of the small things in 

life. You live in the moment. You find joy in that 

“wheelchair chase” around the house or in the 

excitement of reaching another milestone – not to 

mention the witty comments only special needs 

parents would understand. 

To all the other parents out there, no matter what 

age: Yes, raising and caring for a child with special 

needs is hard, exhausting, and at times lonely. But 

it’s beautiful. It’s worth it. It’s parenting. 

References 

Cure CMD. (©2018). “LMNA related disorders”. 

https://www.curecmd.org/lmna 

Stumbo, E. (No date). “I never thought I would become 

a parent of a child with a disability”. https:// 

www.ellenstumbo.com/i-never-thought-i-would-become-a-special-needs-parent/ 

27

People 

SLAYING 

WARRIOR 

By Emile Smith 

If you’d asked me in the beginning what muscular 

dystrophy was, I wouldn't have known, but the 

longer the journey got the more I understood. 

I'm Emile Smith, 26 years old, living in Worcester, 

and I have Becker muscular dystrophy. Symptoms 

of MD started when I was about 11 years old. I was 

often laughed at for not being able to run or walk 

long distances and my belly standing out. Nobody 

knew what was happening, and it was difficult 

because many thought I was acting up. One 

morning on my way to school I fell and couldn't feel 

my legs and thought I was paralysed, although it 

lasted only for about 10 minutes. It never happened 

again, thank God. High school was just difficult. I 

decided to go to a mainstream school and believed 

I could do what any person can do. It was hell at 

first – for example, I had to find ways to climb into 

a bus, such as some sort of crawling, with mud 

smearing my clothes. Finding a way to get up the 

stairs was slow but I just had to prove myself and 

others wrong. I was laughed at a lot, for the way 

I climbed into the bus and the way I climbed the 

stairs, but I dealt with the mocking and bullying head 

on and it all made me grow a thick skin. But it took 

me on a journey of self-discovery and accepting 

the situation and realising that I needed to accept 

myself more than others should. 

I passed matric despite everything I faced and was 

honoured with a Principal’s Award for excelling 

against all odds. I've learned to focus on what I can 

still do, and I don't let the things I can't do mess me 

up. Yes, for some time I was angry, frustrated and 

felt like a let-down because I couldn't do what others 

could, but I dealt with the beautiful reality that we all 

are different and unique. I went through a process 

of self-approval and finding love of my body despite 

its changing form. It's MY tiptoe, MY belly and MY 

everything else. 

When I was able I did everything possible, like 

gardening, cooking, baking, ironing and even 

mountain climbing. When I couldn't anymore I was 

at ease about it and just used my ability whenever 

I could. 

MD isn't all that bad and is where I learn my life 

lessons. If you ask me now what MD is I would say 

it’s my brain and muscles fighting against each 

other, and the reality is that both of them get a 

chance to win. When I fall, I laugh and expect the 

same reaction from others! Yes! Why… because I'll 

get up, dust myself off and keep smiling. My brain 

is my deepest gift from God because I'll always 

find a way to manage when I'm supposed to really 

struggle. 

I've found a passion for writing and call myself 

Ink Dripper. It helps me to deal with MD and to 

understand my struggle, my fears and tears. 

Sometimes I wish it was all different but then I look 

at my strength and think, yes, I'm struggling but am 

inspired by my own life. 

I'm currently experiencing weakening of my body 

and muscles. I use my “maroon ride” for special 

occasions. I walk slowly and my legs often hurt. I fall 

and it’s painful, but when I put some tunes on and 

laugh and think “Oh come on!” Life can test me but 

I'll pass through fire. I've learned that being positive 

in a negative situation is a win. 

I've always wanted to be a social worker and a voice 

and activist for disabled children and adults – one 

day. Though I haven't achieved all of my dreams 

yet, I'm happy because I've accepted myself and 

have found ways to get by. 

Muscular dystrophy has taught me an important 

lesson: When I fall, I sit there, laugh, look around, 

dust myself off, keep going and keep smiling. 

I'm a warrior, a "woelige ou", a fruitful tree and a 

force to be reckoned with. I'm physically challenged 

but I'm no outcast. I'm Emile and I have muscular 

dystrophy. 

28

Research 

South African participation in International Centre for Genomic 

Medicine in Neuromuscular Disease (ICGNMD) – 

a call for collaboration with MDSA 

By Francois H van der Westhuizen, PhD 

Professor of Biochemistry 

Deputy Director: School of Physical and Chemical Sciences North-West University 

Neuromuscular diseases (NMDs) affect approximately 

20 million children and adults globally. They cause either 

premature death or are chronic diseases causing lifelong 

disability with economic impact. They include many 

different disorders affecting muscle and nerve function and 

account for 20% of all neurological diseases. Examples 

include muscular dystrophies, motor neuron diseases, and 

mitochondrial diseases. Most NMDs are genetic single gene 

disorders, with many genes being discovered. In developed 

countries, a precise genetic diagnosis and gene discoveries 

are already having an important impact on patient care and 

health outcomes. Unfortunately in developing countries, 

such as SA, this is not the case and the great strides in 

research that are required to develop such genetic diagnoses 

in our country have not been forthcoming in recent decades. 

The newly established International Centre for Genomic 

Medicine in Neuromuscular Disease (ICGNMD) - partly 

funded by the MRC (UK) for five years from July 2019 - 

has the mission to harness genomics to understand disease 

mechanisms and improve the health outcomes of children 

and adults with serious NMDs on a global scale. It is led 

by the University College London & Cambridge University 

and include partners from five developing countries: South 

Africa, Brazil, India, Zambia and Turkey. The main 

objectives are to build NMD cohorts in these countries, 

identify the genes involved in the disease in each population, 

and build human capacities in each country and international 

networks that are sustainable. Reaching these objectives will 

greatly help to address the treatment of the various NMDs. 

For SAs participation, experienced researchers and 

clinicians at the following universities have formed a core 

team: 

• Prof Francois H van der Westhuizen (coordinator and 

NMD researcher), Centre for Human Metabolomics, 

North-West University (NWU), Potchefstroom 

• Prof Izelle Smuts (paediatric neurologist). Department of 

Paediatrics, University of Pretoria (UP). 

• Prof Jo Wilmshurst (paediatric neurologist). School of 

Child and Adolescent Health, Red Cross War Memorial 

Children’s Hospital, University of Cape Town (UCT). 

• Dr Franclo Henning (neurologist). Division of Neurology, 

Stellenbosch University (SU). 

• Prof Jeannine Heckmann (neurologist). Division of Neurology, 

Groote Schuur Hospital, UCT. 

• Prof Soraya Bardien (geneticist), Division of Molecular 

Biology and Human Genetics, Stellenbosch University. 

The success of this ambitious study for SA will greatly 

depend on the extent in which patients can recruited and 

how well the complex, population-specific clinical and 

genomic data can be scrutinized. It will also depend on 

collaborations with all stake holders in SA. The centres already 

participating have NMD clinics a base of patients that are 

visiting these clinics, as well as established collaborations 

(e.g. contact with local MDSA branches) and networks. 

We would like to expand the knowledge of this study so 

that broader access of patients with a NMD and other 

collaborations with these clinics can be established over the 

next 5 years. 

Through Dr Marnie Potgieter (UP), we came into contact 

with MDSA to inform members of this ICGNMD study and 

participate at either of the centres in the near future. 

29

Research 

MRI-GUIDED BIOPSY SHOWS PROMISE FOR CLINICAL 

TRIALS 

By June Kinoshita 

Originally published in FSHD Advocate 2019, Issue 1, p.7 

A central tenet of modern FSH muscular dystrophy research 

is that the muscle damage in this disease is caused by a gene 

called DUX4. Normally silent in adult skeletal muscle, 

DUX4 is expressed through a genetic aberration and triggers 

a shower of toxic molecular events. This idea lies behind 

efforts to treat FSHD with drugs and gene therapies designed 

to repress DUX4. 

But proving that DUX4 causes damage in actual patients 

has been no easy task. In a major step forward, researchers 

from the University of Washington and the University of 

Rochester reported that pathologic changes in patients’ 

muscles are correlated with patterns of genes that are 

switched on when DUX4 is expressed. 

The transcontinental team accomplished this discovery 

by collecting tiny bits of patients’ muscles guided by 

magnetic resonance imaging (MRI). Prior studies had 

suggested that MRI can detect various stages of the disease 

process. “Dystrophic” muscles were filled with fat and scar 

tissue, which showed up as bright spots when the MRI was 

tuned to detect fat. On the other hand, some healthy-looking 

muscles looked abnormal when the MRI was tuned to detect 

water. Researchers had suspected that the excess water in 

these muscles resulted from inflammation. 

These prior MRI studies hinted that inflamed muscles might 

have DUX4 activity leading to dystrophy. Data from the 

new study are consistent with this idea and point the way to 

designing clinical trials. MRI-guided muscle biopsy could, 

in theory, show that a drug is actually repressing DUX4 

in patients, while a sequence of MRI images taken after 

treatment might reveal whether the drug is slowing the 

damage to muscles. 

The researchers would like to study the same group of 

patients over time to gain a fuller understanding of how the 

disease progresses. 

Most importantly, scientists need to show this method is 

reliable over repeated use in diverse groups of patients 

before the approach can be considered ready to use in a 

clinical trial. Those studies are now going on, with results 

expected in about a year. 

REFERENCE 

Wang LH, Friedman SD, Shaw D, Snider L, Wong 

CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, 

Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, 

Tawil RN. MRI-informed muscle biopsies correlate MRI with 

pathology and DUX4 target gene expression in FSHD. Hum 

Mol Genet. 2019 Feb1;28(3):476-486. 

30 

Article available at: https://www.fshsociety.org/wp-content/uploads/2019/04/FSHD-Advocate-Magazine-2019-Issue-1-FINAL.pdf

Research 

SERUM CREATININE LEVELS REFLECT DISEASE 

SEVERITY IN 

MUSCULAR DYSTROPHY PATIENTS 

By Patricia Silva 

Originally published by Muscular Dystrophy News, 14 April 2015 

Researchers at Sun Yat-sen University, China recently published 

in the journal Disease Markers a new method to help 

assess muscular dystrophy disease severity and progression. 

The study is entitled “Serum Creatinine Level: A Supplemental 

Index to Distinguish Duchenne Muscular Dystrophy 

from Becker Muscular Dystrophy.” 

Muscular dystrophies are characterized by a progressive 

skeletal muscle weakness that leads to the degeneration of 

muscle cells and tissues, compromising locomotion. It can 

also affect specific muscles involved in respiratory function, 

leading to breathing complications and cardiac problems. 

Duchenne muscular dystrophy (DMD) and Becker muscular 

dystrophy (BMD) are two muscular dystrophies caused 

by mutations in the dystrophin gene. DMD has a rapid progression 

and a phenotype more severe than BMD, where the 

majority of the patients require a wheelchair by the age of 

12 and often succumb to the disease in their 20s. BMD has 

a milder phenotype with near-normal life expectancy. Both 

disorders affect mainly boys. 

Several therapeutic strategies aiming at restoring dystrophin 

production are currently undergoing clinical testing, 

although reliable and convenient measures to assess disease 

severity and progression are urgently needed. Many of the 

tools available such as immunohistochemistry or quantitative 

muscle strength tests are not considered feasible or adequate 

for monitoring the patient’s response to therapy due 

to the invasiveness of the procedure (in the case of muscle 

biopsy), or due to their subjectivity and difficulty to conduct 

in young children. 

Creatinine is an end product generated during muscle metabolism 

and its excretion has been reported to progressively 

decrease in parallel with muscle wasting in DMS patients, 

suggesting that a 24-hour urinary creatinine excretion test 

could be a reliable indicator of muscle mass. Since serum 

creatinine levels strongly correlate with urinary creatinine 

excretion levels and DMS patients usually have lower creatinine 

serum levels in comparison with BMD patients, the research 

team hypothesized that serum creatinine levels could 

represent a useful marker to determine disease severity. 

Researchers analyzed a cohort of 212 Chinese boys with 

muscular dystrophies in terms of clinical, biochemical, genetic 

and motor parameters to evaluate whether serum creatinine 

levels could reflect disease severity. The research team 

found that serum creatinine levels had a moderate to strong 

inverse correlation with lower extremity motor function, 

suggesting that patients with lower creatinine levels may 

have a more severe disorder with greater impairment of the 

motor function. It was also found that creatinine levels were 

significantly higher in BMD patients in comparison to DMD 

patients, indicating that a higher serum creatinine level is 

linked to a milder disease. 

The researchers concluded that serum creatinine levels reflect 

disease severity and could potentially be used as a simple 

biomarker to clinically discriminate between DMD and 

BMD patients and help assess disease progression. 


com/2015/04/14/serum-creatinine-levels-reflect-diseaseseverity-in-muscular-dystrophy-patients/ 

31

TALE OF TWO CHAIRS 

By Hilton Purvis 

My two trusty steeds each celebrated milestones last year. 

My manual wheelchair celebrated 30 years of being my 

legs, and my motorised wheelchair celebrated 20 years of 

powering my mobility. 

In 1987, while participating in the national championships 

for disabled sport, I encountered a group of German athletes 

who were working for a wheelchair manufacturer named 

"Sopur". As we talked one evening, after a day's competition, 

they commented that my wheelchair of the time was far too 

large for my body frame. My muscular dystrophy has left me 

particularly thin, and my hips measure a mere 29cm across. 

The Germans felt I should have been maximising the benefits 

that this offered since the narrower a wheelchair can be built 

the greater will be its manoeuvrability and access into tight 

spaces. The solution was to have "Sopur" build a wheelchair 

suited to my body frame and in the following weeks we put 

the plan into action. Their brochure sported a canary yellow 

frame wheelchair on the cover with dove grey upholstery. It 

looked very bright, modern and funky. Remember, we were 

still in the era of chrome steel Everest & Jennings monsters! 

I looked at the chair and thought that on some days it would 

make a brilliant ride, but for others it just would not work. 

Fortunately I settled for a more subdued light grey frame and 

black upholstery, with red rims and hubs. Conservative, but 

easier to live with in the long run. A couple of months later 

my new wheelchair arrived in South Africa with a seat width 

of just 30 cm and the backrest, armrests, etc all tailored to 

my size. It was a genuine custom wheelchair, not a common 

commodity in those days. 

That chair has been my constant companion for more than 

30 years. It has gone through a couple of sets of tyres, 

numerous cushions and two sets of brakes, but it has covered 

many kilometres, many hundreds of thousands of kilometres. 

It has travelled on aircraft, ships, ferries, trains, trams, buses, 

taxis and dozens and dozens of motor cars. It remains the 

narrowest adult wheelchair I have ever encountered, and true 

to their reasoning it has allowed me to reach places which no 

other wheelchair as ever been before. 

wheelchair really shone was in the corporate office 

environment, allowing me to easily and quickly 

navigate a six-storey business complex. It allowed me to move 

effortlessly from my office to meeting rooms, presentations, 

IT bunkers, and back in the same time it took my able-bodied 

colleagues to do the same. In this regard alone it was a huge 

empowerment tool and paid for itself many, many times over. 

I ordered it directly from Invacare, which I don't think is 

possible anymore with dealer networks now filling the 

gap between the end users and the manufacturers. I recall 

meeting with a senior regional executive of the 

company, who flew out from the United States to meet with an 

occupational therapist arranging equipment for a recently 

disabled insurance claimant. He was more interested in 

securing a date with the occupational therapist so all of my 

requests for add-ons and optional extras were readily agreed 

to and I was shuffled off! I hope his date delivered! The 

motorised chair arrived on a wooden pallet, having travelled 

halfway around the world, but it was in perfect working 

order, and they even supplied me with a programmable 

controller so that I could fine tune the speeds and 

responsiveness of the joystick. That would be almost 

impossible to do today and most dealers or suppliers would 

not know a joystick from a lipstick. 

What is remarkable is the fact that it is still running on 

its original set of Group 24 batteries! I attribute this 

longevity to an uncompromising attitude to battery 

recharging where I do not "top up". I only ever charge the 

battery at a time when it is able to recharge fully and never 

have the recharging cycle cut short. These days of course I 

have to deal with Eskom trying to return us to the Dark Ages 

and interrupting charging cycles whilst doing so, but I do 

whatever I can to avoid interrupting a charging cycle. 

These two wheelchairs, so different in character and design, 

represent everything that is access to me. Never mind ramps, 

grab rails or roll-in showers, the wheelchair is where access 

starts. Without either of them I would not be who I am today. 

My motorised wheelchair, the impressive sounding Invacare 

"Action Arrow", has led a far simpler life despite its rather 

dramatic name. No international travel or exotic destinations 

for this 120kg beast, but it has taken me up to the highest 

walkways of Kirstenbosch Botanical Gardens, through the 

wine estate of Vergelegen, the Boulder Penguin colony and 

the Victoria and Alfred Waterfront complex more times than 

I can remember. It goes without saying that in the last 20 

years it has cruised more than its fair share of shopping malls. 

But this is just one side of the story. Where my motorised 

32

Prof Amanda Krause, MBBCh, PhD MB BCh, 

Medical Geneticist/Associate. Professor. 

Head: Division of Human Genetics. 

National Health Laboratory Service (NHLS) 

& The University of the Witwatersrand. 

Please e-mail your questions about genetic counselling to national@mdsa.org.za. 

What is genetic testing? 

Genetic testing is a type of medical test that identifies the changes in our genes that cause disease. It is usually performed by studying 

DNA – the genetic code that provides the instruction manual to our body. 

Why should I have genetic testing? 

The results of a genetic test can confirm a suspected genetic condition (diagnostic testing). Once a genetic diagnosis is confirmed, more 

specific management and therapy may be provided. Increasingly therapies are becoming available, which require the exact genetic diagnosis 

to be defined. Patients with different genetic faults may qualify for different therapies. 

Many patients and their families ask about the possibility of other family members developing similar symptoms to those of the individual 

with muscular dystrophy. Accurate information can be provided only once the genetic diagnosis is determined, as conditions which look 

similar clinically may have different inheritance patterns and thus different risks. 

Some tests may be able to predict whether an individual is likely to manifest a condition that is present in their family (predictive or 

preclinical testing). They may also be used to determine if an individual is a silent carrier of a condition and whether they are at risk of 

having an affected child. 

What genetic tests are available for people with facioscapulohumeral muscular dystrophy (FSHD) and limbgirdle 

muscular dystrophy (LGMD)? 

FSHD and LGMD are two of the muscular dystrophies featured in this issue of the MDF Magazine. They have some overlapping clinical 

features but illustrate some important principles in genetic testing. 

FSHD is caused by a complex genetic alteration. The testing requires a laboratory with specific expertise in FSHD to do the analysis. 

FSHD testing is usually done as a single test for this condition. A positive test confirms the diagnosis, and a negative result makes it very 

unlikely that the condition is FSHD. 

Doctor’s 

LGMD is a large, complex group of conditions with variable but overlapping clinical features. There are over 30 genetic subtypes, each 

of which may be caused by faults in different genes. Thus, in 2019, if a diagnosis of LGMD is suspected, the most appropriate genetic test 

would be the so-called gene-panel test, where many genes are analysed simultaneously in order to find the single disease causing a fault 

in an individual. Such analysis has not always been available but is increasingly available now with newer genetic testing techniques. 

Such tests may miss specific conditions like FSHD. 

It is important to emphasise that genetic testing is complex and expensive. It should be individualised and performed through a medical 

geneticist or genetic counsellor, who can help to select the test most appropriate for the patient and is most likely to provide the required 

information. Such health professionals would be able to explain the value and limitations of genetic testing for any individual. 

33

Sandra’s thoughts on… 

Hands 

By Sandra Bredell (MSW) 

The human hand is one of the most complicated parts 

of the body. Consider the following facts (Eaton, no 

date): The hand consists of more or less 29 bones, 

123 ligaments, 34 muscles which give movement to the 

fingers and thumb (17 in the palm of the hand and 18 

in the forearm), 48 nerves (3 major nerves, 24 named 

sensory branches and 21 named muscular branches) 

and 30 named arteries. The thumb alone has 9 

individual muscles controlled by 3 major hand nerves 

and its movement is quite complex. On top of this, 

the finger strength is often underestimated if you bear 

in mind that rock climbers often support their entire 

weight by a few fingertips. One does not realize these 

astonishing facts about our hands when we use them. 

Furthermore, fingers are not perfectly straight either. 

Only the finger bones on the back side of the hand is 

straight but curved on the palm side. The skin on the 

palm side of the hand and fingers has no hair and no 

ability to tan yet it is tough, durable and very sensitive. 

The article “How do hands work?” (2010) tells us that 

we can use our hands in a power grip, precision grip 

and to touch. The power grip can be described as 

the grip we use to carry a heavy bag or hold onto a 

handle, and the precision grip refers to the grip we use 

to write and draw. But just as important as these two 

different grips is the ability to use them to touch. There are 

approximately 17 000 touch receptors and nerve 

endings in the palm of the hand. It is then no surprise 

to me that we associate touch with the hand. Fingertips 

are especially sensitive to touch. 

A hand is also linked to giving and support and is used 

to shake hands in friendship and closing a deal in 

the business world. Different symbolic meanings are 

associated with the hand. 

Apparently the fingers on one hand are flexed up 

to 27 million times in a lifetime. Our hands are used 

to communicate and receive information from the 

environment. This made me think of a story that I 

read a while ago, “The importance of hands” (author 

unknown), which I would like to share with you. 

An old man, probably some ninety plus years, sat 

feebly on the park bench. He didn’t move, just sat 

with his head down staring at his hands. 

When I sat down beside him he didn’t acknowledge 

my presence and the longer I sat I wondered if he 

was okay. Finally, not really wanting to disturb him, 

but wanting to check on him at the same time, I asked 

him if he was okay. 

He raised his head and looked at me and smiled. Yes, 

I’m fine, thank you for asking, he said in a clear strong 

voice. 

I didn’t mean to disturb you, sir, but you were just sitting 

here staring at your hands and I wanted to make 

sure you were ok, I explained to him. 

Have you ever looked at your hands he asked? I 

mean really looked at your hands. 

I slowly opened my hands and stared down at them. 

I turned them over, palms up and then palms down. 

No, I guess I had never really looked at my hands as 

I tried to figure out the point he was making. 

Then he smiled and related this story: 

Stop and think for a moment about the hands you 

have, how they have served you well throughout your 

years. These hands, though wrinkled, shriveled and 

34

weak, have been the tools I have used all my life to 

reach out and embrace life. They braced and caught 

my fall when as a toddler I crashed upon the floor. 

They put food in my mouth and clothes on my back. 

As a child my mother taught me to fold them in prayer. 

They tied my shoes and pulled on my boots. They 

dried the tears of my children and caressed the love 

of my life. 

They held my rifle and wiped my tears when I went off 

to war. They have been dirty, scraped and raw, swollen 

and bent. They were uneasy and clumsy when I tried 

to hold my newborn son. Decorated with my wedding 

band they showed the world that I was married and 

loved someone special. They wrote the letters home 

and trembled and shook when I buried my parents and 

spouse and walked my daughter down the aisle. 

Yet, they were strong and sure when I dug my buddy 

out of a foxhole and lifted a plow off of my best friends’ 

foot. They have held children, consoled neighbours, 

and shook in fists of anger when I didn’t understand. 

They have covered my face, combed my hair, and 

washed and cleansed the rest of my body. They have 

been sticky and wet, bent and broken, dried and raw. 

And to this day when not much of anything else of me 

works real well these hands hold me up, lay me down, 

and again continue to fold in prayer. These hands are 

the mark of where I’ve been and the ruggedness of my 

life. 

Why all this about the human hands? Well, when last 

did you actually look at your hands? I mean really look 

at your hands? Even though they might not look the 

way you want them to look or work as you would want 

them to work, they are part of your story. Your hands 

are unique and have a special function in your life. Care 

for them this winter! 

References 

Eaton, C. (No date). “Hand facts and trivia”. http://www. 

eatonhand.com/hw/facts.htm? 

“How do hands work?” (2010). https://www.ncbi.nlm. 

nih.gov/books/NBK279362/#top 

“The importance of your hands”. (No date). Inspirational 

Archive. http://www.inspirationalarchive.com/271/theimportance-of-your-hands/ 

Encouragement 

many people sat along life’s wayside 

way-worn, weary and blue 

but something could cause them to take heart 

just a word of encouragement. 

Encouragement gives you strength 

Courage to go on with life 

But steep and abrupt is the way 

Without it you will give up. 

Encouragement gives you hope 

Hope that bring the goal line nearer 

Hope that can carry you when you’re tired 

‘cause hopelessness will drain your strength. 

With encouragement you can endure more 

With it your hardships won’t feel heavy 

And light-footed you’ll go forward 

To finish the race of life. 

Written by C. Dippenaar 

35

ON THE SPOT, SCOTT… 

TAKING MY BLINKERS OFF 

By Robert Scott 

Looking back to before I started working at the MDF, 

disability could not have been further from my mind. What 

I mean by this is that I knew nobody who had a disability 

of any form so it was something that never factored in my 

life. Now I was not one of those people who would park in a 

disability parking so I had a certain level of social 

responsibility, but that is where it ended with me. 

For the better part of my life the word “disability” always 

conjured up images of someone with a different way of 

walking or with a missing limb, for example. Muscular 

dystrophy may as well have been ancient Greek to me, not 

a foggy clue I had! Then came along a small unassuming 

building in Florida Park – you guessed it, it was the Muscular 

Dystrophy Foundation. 

I had a job interview coming up with the Foundation 

and realized that I needed to educate myself as to what 

muscular dystrophy was. I went through the process of 

searching online and, like many, I did nothing but confuse 

myself to a dizzy height! Once I started trying to read up 

about the genetics side of things it was all downhill from 

there. If anything I was more confused than before I started! 

After a few hours I had managed to figure out the basics of 

what MD is and was simply hoping that someone would not 

ask me on my first day on the job to explain the over 70 

different types of MD. 

Then came a breath of fresh air – the people I would be 

working with were affected themselves. At first I admit I was 

uptight in my interactions. I went through things in my head 

like “what can I say and what can’t I say”? All of this was 

because I was worried I might offend someone. This soon 

went away when I realized that my way of thinking at that 

time was silly, as my colleagues were “normal” people like 

the rest of us, and if anything were more open about having a 

disability than I could have imagined. Let me illustrate. 

In an effort to gain more clarity I asked my colleagues if 

there was anything in particular that they struggled with on a 

daily basis. What followed was one of the most enlightening 

conversations of my life, and at times we were all sharing 

a good laugh. One of the group said that they had always 

preferred to take baths instead of showers. However, on one 

occasion they made the unfortunate mistake of putting bath 

oil in the water. This ended up doing nothing but creating a 

slip ’n slide and they ended up having a less than graceful 

experience. 

I realized that while having a disability is nothing to laugh 

about, it all depends on how you look at it. You can be very 

uptight and serious or you can accept it and learn to look 

on the bright side. Just because something is serious doesn’t 

mean you can’t have a laugh about it. 

These people became my knowledge centre, and over time 

we grew from working with one another to becoming friends. 

They taught me that having a disability is not a 

pleasant thing but you need to learn that you are not different 

from other people. What I mean by this is that once you become 

comfortable with yourself and learn not to take life so 

seriously, you have already won half the battle. 

This all occurred more than two years ago for me, and since 

then I have experienced more than I could have imagined 

and learnt so much more. Now this is not to say that all these 

experiences were easy. I have seen many people pass away 

and seen tragic situations that have broken my heart. But 

they have all come with an important life lesson for me: no 

matter what happens, you need to live your life as if every 

day may be your last. 

So if I can pass any message on to our readers it is that one 

shouldn’t get too tied down with anything negative. Some 

things will get you down and some days will feel impossible, 

but do not let them define who you are! Do everything you 

can every single day of your life. Live and laugh like you 

never have before. 

To end off I would like to quote from the 1996 film “Jack”: 

Please, don't worry so much, because in the end none of us 

have very long on this earth – life is fleeting. And if you're 

ever distressed, cast your eyes to the summer sky when 

the stars are strung across the velvety night, and when a 

shooting star streaks through the blackness turning night 

into day, make a wish and think of me. Make your life 

spectacular. 

36

KIDDIES CORNER 

Play is an important part of a child's early development. Playing helps young children's brains to 

develop and their language and communication skills to mature. 

COFFEE CAN DRUMS 

By Rachel 

Originally published on Kids Activities.com, 20 March 2015 

Let kids create some music of their own with some simple Coffee Can Drums. This fun activity inspires 

creativity not only in the creation of the instrument, but in the hours they’ll spend banging on the drums 

after! 

All you need to create your own coffee can drums are some old 

coffee cans, balloons, scissors, and some packing tape. 

Cut the nozzle off the balloons and stretch them around the can. 

We double layered the balloons for durability and cut the top 

layer for a fun effect. 

Tape them in place, and your kids are ready to make music! 

Article available at: https://kidsactivitiesblog.com/5491/bigthoughts-creative-kids/ 

37

Healthy 

LIVING WELL WITH A 

DISABILITY HOW TO 

COPE WITH 

LIMITATIONS, 

OVERCOME 

CHALLENGES, 

AND BUILD A 

FULFILLING LIFE 

By Melinda Smith 

Last updated: November 2018. 

Adjusting to life with a disability can be a difficult transition. 

We all tend to take our health for granted—until it’s gone. 

Then, it’s all too easy to obsess over what we’ve lost. But 

while you can’t go back in time to a healthier you or wish 

away your limitations, you can change the way you think 

about and cope with your disability. You are still in control 

of your life! There are many ways you can improve your 

independence, sense of empowerment, and outlook. No 

matter your disability, it’s entirely possible to overcome the 

challenges you face and enjoy a full—and fulfilling—life. 

Is it possible to live well with a disability? 

Most of us expect to live long, healthy lives. So when you’re 

hit by a disabling injury or illness, it can trigger a range of 

unsettling emotions and fears. You may wonder how you’ll 

be able to work, find or keep a relationship, or even be happy 

again. But while living with a disability isn’t easy, it doesn’t 

have to be a tragedy. And you are not alone. Millions of people 

have traveled this road before you and found ways to not 

just survive, but thrive. You can too. 

healthy, unlimited body, but likely the loss of at least some of 

your plans for the future. 

Don’t try to ignore or suppress your feelings. It’s only 

human to want to avoid pain, but just like you won’t get over 

an injury by ignoring it, you can’t work through grief without 

allowing yourself to feel it and actively deal with it. Allow 

yourself to fully experience your feelings without judgement. 

You’re likely to go through a roller coaster of emotions— 

from anger and sadness to disbelief. This is perfectly 

normal. And like a roller coaster, the experience is 

unpredictable and full of ups and downs. Just trust that with 

time, the lows will become less intense and you will begin to 

find your new normal. 

1. Learn to accept your disability 

It can be incredibly difficult to accept your disability. 

Acceptance can feel like giving in—throwing in the towel 

on life and your future. But refusing to accept the reality 

of your limitations keeps you stuck. It prevents you from 

moving forward, making the changes you need to make, and 

finding new goals. 

Give yourself time to mourn 

Before you can accept your disability, you first need to 

grieve. You’ve suffered a major loss. Not just the loss of your 

38

You don’t have to put on a happy face. Learning to live 

with a disability isn’t easy. Having bad days doesn’t mean 

you’re not brave or strong. And pretending you’re okay when 

you’re not doesn’t help anyone—least of all your family and 

friends. Let the people you trust in on how you’re really 

feeling. It will help both them and you. 

Coming to terms with your new reality 

It’s healthy to grieve the life you’ve lost, but it’s not 

healthy to continue looking back and wishing for a return 

to your pre-disability “normal.” As tough as it is, 

it’s important to let go of the past and accept where you 

are. 

• You can be happy, even in a “broken” body. It may 

not seem like it now, but the truth is that you can 

build a happy, meaningful life for yourself, even 

if you’re never able to walk, hear, or see like you 

used to. It may help to search out inspiring stories 

of people with disabilities who are thriving and living 

lives they love. You can learn from others who 

have gone before you, and their successes can help 

you stay motivated during tough times. Don’t dwell 

on what you can no longer do. Spending lots of time 

thinking about the things your disability has taken 

from you is a surefire recipe for depression. Mourn 

the losses, then move on. Focus on what you can do 

and what you hope to do in the future. This gives 

you something to look forward to. 

• Learn as much as possible about your disability. 

While obsessing over negative medical information 

is counterproductive, it’s important to understand 

what you’re facing. What’s your diagnosis? What is 

the typical progression or common complications? 

Knowing what’s going on with your body and what 

to expect will help you prepare yourself and adjust 

more quickly. 

2. Find ways to minimize your disability’s impact on your 

life 

It goes without saying that your disability has already 

changed your life in big ways. It doesn’t help to live in 

denial about that. You’ve got limitations that make things 

more difficult. But with commitment, creativity, and a 

willingness to do things differently, you can reduce the 

impact your disability has on your life. 

Be your own advocate. You are your own best advocate 

as you negotiate the challenges of life with a disability, 

including at work and in the healthcare system. Knowledge 

is power, so educate yourself about your rights and the 

resources available to you. As you take charge, you’ll also 

start to feel less helpless and more empowered. 

Take advantage of the things you can do. While you may 

not be able to change your disability, you can reduce its 

impact on your daily life by seeking out and embracing 

whatever adaptive technologies and tools are available. If 

Healthy 

you need a device such as a prosthetic, a white cane, or a 

wheelchair to make your life easier, then use it. Try to let go 

of any embarrassment or fear of stigma. You are not defined 

by the aids you use. 

Set realistic goals—and be patient. A disability forces 

you to learn new skills and strategies. You may also have to 

relearn simple things you used to take for granted. It can 

be a frustrating process, and it’s only natural to want to 

rush things and get back to functioning as quickly as 

possible. But it’s important to stay realistic. Setting overly 

aggressive goals can actually lead to setbacks and 

discouragement. Be patient with yourself. Every small step 

forward counts. Eventually, you’ll get there. 

3. Ask for (and accept) help and support 

When struggling with a disability, it’s easy to feel completely 

misunderstood and alone. You may be tempted to withdraw 

from others and isolate yourself. But staying connected to 

others will make a world of difference in your mood and 

outlook. 

Tips for finding (and accepting) help and support 

Nurture the important relationships in your 

life. Now, more than ever, staying connected is 

important. Spending time with family and friends will 

help you stay positive, healthy, and hopeful. Sometimes, 

you may need a shoulder to cry on or someone to vent 

to. But don’t discount the importance of setting aside 

your disability from time to time and simply having fun. 

Joining a disability support group. One of the 

best ways to combat loneliness and isolation is to 

participate in a support group for people dealing with similar 

challenges. You’ll quickly realize you’re not alone. Just 

that realization goes a long way. You’ll also benefit from 

the collective wisdom of the group. Support groups 

are a great place to share struggles, solutions, and 

encouragement. 

Accepting help doesn’t make you weak. In fact, it 

can make you stronger, especially if your refusal to 

seek out needed assistance is delaying your progress or 

making you worse, either physically or emotionally. Let 

go of the fear that asking for support will inspire pity. 

Allow the people who care about you to pitch in. Not 

only will you benefit, it will also make them feel better! 

Consider talking to a mental health professional. 

Having someone to talk to about what you’re 

going through can make a huge difference. While 

loved ones can provide great support in this 

way, you may also want to consider talking to a 

therapist. The right therapist can help you process the 

changes you’re facing, work through your grief, and 

reframe your outlook in a more positive, realistic way. 

39

Healthy 

4. Find things to do that give you meaning and purpose 

A disability can take away many aspects of your identity, 

leaving you questioning who you are, what your value 

is, and where you fit in society. It’s easy to start feeling 

useless and empty, especially if you can’t do the same work or 

activities as you did before. That’s why it’s important to find 

new things that make you feel good about yourself—things 

that give you a renewed sense of meaning and purpose. 

Volunteer. Volunteering is a great way to feel more 

productive and like you’re making a difference. And it’s 

something you can do even if you have limited mobility or 

can’t work. Pick a cause you’re passionate about and then 

figure out how you can get involved. There are numerous 

opportunities out there—many of which can even be done 

from home. 

Develop new hobbies and activities that make you 

happy. A disability can make the activities you used to 

enjoy more difficult, or even impossible. But staying 

engaged will make a big difference in your mental health. 

Look for creative ways to participate differently in old 

favorites, or take this opportunity to develop new interests. 

Find ways to give back to those who help you. When you’re 

disabled, you often must accept a lot of help from friends and 

family. This is not a bad thing! But it will make you feel good 

if you find ways to reciprocate. For example, maybe you’re 

great with computers and can help a tech-challenged family 

member. Or maybe you’re a good listener your friends know 

they can count on when they need someone to talk to. Even 

things as small as a thank-you card or a genuine compliment 

count. 

Take care of an animal. Caring for a pet is a great way 

to get outside of yourself and give you a sense of being 

needed. And while animals are no substitution for human 

connection, they can bring joy and companionship into your 

life and help you feel less isolated. If you aren’t able 

to have a pet, there are other ways to find animal 

companionship, including volunteering at your local animal 

shelter or veterinarian’s office. 

5. Make your health a top priority 

In order to feel your best, it’s important to support and 

strengthen your health with regular exercise, a healthy diet, 

plenty of sleep, and effective stress management. 

Exercise 

It’s important to get exercise in any way that you can. 

Not only is it good for your body—it’s essential for 

mental health. Regular exercise helps reduce anxiety and 

depression, relieve tension and stress, and improve sleep. 

And as you get more physically fit, you’ll also feel more 

confident and strong. 

Start small and build from there. Don’t jump too quickly 

into a strenuous routine. You’re more likely to get 

injured or discouraged and discontinue. Instead, find ways 

to increase the amount of physical activity in your day in 

small, incremental steps. 

Find creative ways to exercise. Instead of dwelling on 

the activities you can’t do, focus on finding those that are 

possible. Even if your mobility is limited, with a little 

creativity, you can find ways to exercise in most cases. 

Listen to your body. Exercise should never hurt or make 

you feel lousy. Stop exercising immediately and call your 

doctor if you feel dizzy, short of breath, develop chest pain 

or pressure, break out in a cold sweat, or experience pain. 

Don’t compare yourself to others (or to your past self). 

Avoid the trap of comparing your exercise efforts to those 

of others—even others with similar disabilities. And don’t 

discourage yourself by comparing where you are today to 

where you were pre-disability. The only healthy way to judge 

your progress is by comparing where you are today to where 

you were yesterday. 

Eat well to optimize energy and vitality 

Nutritious eating is important for everyone—and even 

more so when you’re battling physical limitations or health 

complications. Eating well will boost your energy and 

promote vitality so you can partake in the activities you want 

to and reach your goals. While eating healthy isn’t always 

easy when you’re struggling with a disability, even small 

changes can make a positive impact on your health. 

Focus on how you feel after eating. You’ll start to notice 

that when you eat healthy, balanced meals, you feel more 

energetic and satisfied afterward. In contrast, when you opt 

for junk food or unhealthy options, you don’t feel as good. 

This awareness will help foster healthy new habits and tastes. 

Get plenty of high-quality protein. Protein is essential 

to healing and immune system functioning. Focus on 

quality sources such as organic, grass-fed meat and dairy, 

fish, beans, nuts and seeds, tofu, and soy products. 

Minimize sugar and refined carbs. You may crave 

sugary snacks, baked goods, or comfort foods such as pasta 

or French fries, but these “feel-good” foods quickly lead to 

a crash in mood and energy. Aim to cut out as much of these 

foods as possible. 

Drink plenty of water. Your body performs best when it’s 

properly hydrated, yet many people don’t get the fluids they 

need. When you’re dehydrated, you simply don’t feel as 

good. Water also helps flush our systems of waste products 

and toxins. 

Don’t underestimate the power of sleep 

Quality sleep is important for flushing out toxins and protecting 

your brain. Most adults need 7 to 9 hours. Establish a 

regular sleep schedule; create relaxing bedtime rituals such 

as taking a bath or doing some light stretches, and turn off all 

screens at least one hour before sleep. 

40

Healthy 

6. Make stress management a priority 

Stress is hard on the body and can make many symptoms 

worse, so it’s important to find ways to manage your stress, 

such as practicing relaxation techniques, carving out a healthy 

work-life balance, and learning healthier coping strategies. 

Article available at: https://www.helpguide.org/articles/ 

healthy-living/living-well-with-a-disability.htm/ 

5 TIPS FOR EMOTIONALLY COPING 

WITH DUCHENNE 

MUSCULAR DYSTROPHY 

By Wendy Henderson 

Originally published by Muscular Dystrophy News, 16 February 2017 

As boys with Duchenne muscular dystrophy get older, 

their disease progresses and it’s likely that their emotional 

response to the disease will change over time. It’s perfectly 

natural for Duchenne MD patients to experience frustration, 

anger, self-pity and anxiety regarding their condition, but 

there are ways that you can help them cope with their emotions. 

We’ve put together a list of tips for helping Duchenne 

MD patients cope better emotionally with the disease and 

feel happier about themselves with information from Parent 

Project MD. 

Encourage Open Communication 

Be open and honest about Duchenne and let your child know 

that they can speak to you about any concerns or worries they 

have at any time. If he’d rather speak to a doctor or counsellor, 

then let him know that you can arrange that for him. 

Allow free-flowing conversation about his emotions and let 

him express his thoughts in a healthy and constructive way. 

Identify Issues 

There may be certain issues that your son is experiencing that 

are adding to his emotional stress such as bullying, learning 

problems or teenage hormones. If the problem is something 

that can be sorted, put plans in place to rectify the situation. 

Keep up with Your Child’s Changing Needs at School 

As your child’s Duchenne progresses, the school may need to 

change its classroom set-up to become more accommodating 

and to ensure he is not accidentally being excluded from activities. 

Your son’s needs will continue to change as he ages, 

so you need to be one step ahead to ensure there are as few 

problems as possible. 

Encourage Independence 

Encourage your child to be as independent as possible. The 

more they can do for themselves, the better their sense of 

self-worth will be. Encourage them to socialize with friends 

and to take part in activities without you. 

Encourage Decision Making 

As your son gets older, he should take on more responsibility 

in the decisions regarding his healthcare, education, and 

social life. Be there to guide, but acknowledge that he can 

make some age-appropriate decisions on his own. 


com/2017/02/16/5-tips-for-emotionally-coping-with-duchenne-muscular-dystrophy/ 

41

Cape Branch 

Meet the Branch Committee 

Anne-Marie Stoman 

I am Anne-Marie Stoman, member of the MDF 

Cape Town branch since 2010. I serve on the 

committee and attend and help where I can. I 

have two daughters Chrismarie and Madeleine. 

They support me whenever needed and I love 

them to bits. I was a WO in the SANDF, stationed 

in Youngsfield Military Base at the Signal Unit but 

worked at the Castle and Parliament. 

I participated in many different sport activities 

which kept me fit and only started walking wiith 

a walker in 2006. I was diagnosed with FSHD in 

1991, but never took notice of it untill it started 

affecting my sport activities in hockey, squash, karate, 

modern dancing and gym up till 2014. 

I am now in a retirement village Panorama Palms and I am incredibly happy. I help residents with any technology 

aspects as far as I can and call on assist with calling an uber when needed. My hobby is quilting. Although 

its difficult working with a needle, I have completed four big quilts and few small ones of which I am very proud. 

I am in a relationship with a dear friend whom I’ve known for approximately 30 years. May the Lord grant us many 

years of happiness as he brought us together. 

May our Cape Town branch be blessed with many more years as it feels like family when visiting there. 

Keep up the good work everyone 

With lots of love and appreciation 

Sanjay Narshi 

My name is Sanjay Narshi, I was diagnosed at Groote Schuur Hospital with Muscular Dystrophy in 1993. My 

hobbies are shoe & bag repairs, I also enjoy doing art drawings or paintings. I love attending the MDF support 

groups each month. I try to live life to the fullest & take each day as it comes. 

Kind regards 

Sanjay 

Welcome Jade 

Fairbridge - Social Worker 

I graduated at The University of The Western Cape in the 

year 2017. I have previously worked in Child Protection 

Services for just over a year. 

I started my journey at Muscular Dystrophy Foundation on 

18 June 2019 and I am looking forward to growing at the 

organisation. 

42

Cape Branch 

AWARENESS 

Our social auxiliary workers, 

Mariam Landers and Zukiswa 

Peza, raised awareness at 

various schools, libraries, clinics 

and hospitals such as Bel Porto 

School, Astra School, Brooklyn 

and Athlone libraries, Parow 

Clinic, Heideveld Clinic and 

Groote Schuur Hospital. Many 

thanks to the communities, 

clinics and hospital for the 

positive feedback. 

INTAKA OUTING WITH DUCHENNE BOYS 

In the second quarter of the year, on 15 May 2019, we took the Duchenne boys on an exciting excursion to Intaka 

Island/Bird Island. The lesson covered general characteristics of different birds. At the end of the lesson the boys had 

to identify the birds that they had seen by indicating this on a sheet. They were also educated on different indigenous 

plants in Africa. The children had an enjoyable time; although exhausting, it was a great outing and very educational. 

Adult Support Group: 

2019 Kick-off 

February marked the beginning of our 2019 adult 

support group programme. We kicked things into gear with a 

Valentine's Day social. Our members had the opportunity 

to reconnect after the long festive break and to share their 

thoughts and ideas for the 2019 programme. Thank you to 

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

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

month, and you are always welcome to join us. 

43

Cape Branch 

ADULT SUPPORT GROUP 

In the last quarter we had a few great Adult Support Group meetings and would like to thank our members for 

finding time to attend these meetings once a month. 

On 2 March 2019 we decided to do something 

different by taking our Adult Support Group to the Sea Point 

Promenade for a walk and a cup of coffee. We had a fun 

morning of socialising at the beach over a cup of coffee. 

On 6 April 2019 we had a very successful and interactive 

session on “Self care”. Our members enjoyed this 

session very much and it was wonderful to share 

personal experiences and learn from one another. 

On 1 June 2019 we once again enjoyed a great morning 

at the Stay Easy Hotel over a lovely cup of coffee. We would like to take this opportunity thank the Stay Easy Hotel 

for their hospitality. 

IN MEMORIAM 

Our deepest condolences to little angel Luke De Villiers, who passed away in May 

2019. May his family find comfort during this difficult time. 

It is with very heavy heart that we say goodbye to one of our Eastern Cape 

members, Lorraine Abbott, who passed away on 20 April 2019. Your family is in 

our thoughts. 

It is with heavy hearts that we bid farewell to young 

Sinoxolo Mtyhido, who passed away at the age 14 on 21 May 2019. His beautiful 

smile and humbleness will be sadly missed by all, especially the Duchenne boys. 

Our sincere condolences to the Mtyhido family. 

We sadly had to say goodbye to a young girl, Ovayo Kotoki, who had such a bright 

future ahead of her. She passed away on 12 April 2019 at the age of 15. Our 

sincere condolences to the Kokoti family and friends. 

44 

Condolences to family and friends. Ed.

WELCOME RABIE MODISANE, GENERAL MANAGER 

– GAUTENG BRANCH 

This organization has gone through a difficult time since the passing on of 

its General Manager, Pieter Joubert, at the beginning of this year. It is very 

clear that Pieter was great leader and I’m thrilled to be taking over from 

him. Robert Scott, our Business Development Specialist, did very well as 

Acting General Manager until my appointment. 

Our social workers also continued to do good work despite (in their 

words) “losing a father figure who was always there for us”. Our branch’s 

proximity to the National Office is a big plus. Our team of young social 

workers greatly benefit from the enormous social work experience of Gerda 

Brown, General Manager of the National Office. 


I have been in the nonprofit sector for over two decades. Wherever I 

worked, in youth organizations running developmental programmes 

for young people, or as a senior manager of certain nonprofits, or as a 

consultant for a community based organization – it’s mostly been about 

serving people who are faced with serious struggles on a daily basis. I consider this a privilege and always do my 

best to add value to their lives and in return learn and grow from all experiences. 

The challenge ahead is a big one for all of us. The needs of those we serve grow day by day; on the other 

hand, resources keep diminishing. We rely on a small pool of supporters who constantly get more requests – 

sometimes for even more desperate situations. But, with a committed board, passionate social workers, professional 

managers, and supporters and donors who have become our partners, we shall achieve our mission. I am happy 

to be part of this family. 

PRETORIA SCHOOL PICNIC 

On Tuesday 21 May 2019 we had a picnic at Pretoria School's yard, with MD group learners, physiotherapists 

and social workers. The aim was to encourage learners to do well in their mid-year examinations. We also 

enjoyed different snacks on that event. 

45


A GARDEN TO REMEMBER MDF’S PIETER 

By Adele Bloem 

Originally published in the Roodepoort Record, 21 June 2019 

Friends, family and colleagues came together on a chilly Saturday morning to honour the memory of a man who 

made a huge impact – not only on their lives, but on the community as well. 

The Muscular Dystrophy Foundation (MDF) Gauteng decided to rename the house where their offices are situated, 

as well as unveil a memorial garden, in honour of Pieter Joubert, the previous manager, who passed away 

in January this year. 

Robert Scott, the Acting Manager of MDF Gauteng, explained, “Pieter was affected by facioscapulohumeral 

muscular dystrophy (FSHD), and, as a result of this, he was in a wheelchair for more than a decade. However, 

this did not stop him from dedicating a large portion of his remarkable life to the MDF and the service of its 

members for more than 20 years.” 

He added that Pieter was truly a doyen in the world of non-profit organisations, which was very much because 

of his love for the MDF and the members he served. 

“For many of our members, the MDF was Pieter, and Pieter was the MDF. However, Pieter was a lot more than 

this; he was a husband, father and friend to many people. Those who had the privilege of having him in their 

lives will always remember him fondly,” Robert concluded. 

Article available at: https://roodepoortrecord.co.za/2019/06/21/a-garden-to-remember-a-good-mana-garden- 

to-remember-mdfs-pieter-web/?fbclid=IwAR1XIooJbp0Vpt4XUjV_AJtaX7M9ALfHSN7t09lOcUFHUJKFCi_JEd- 

4Bzbk 

SAVE THE DATE 

Discovery 947 ride Joburg 

The Discovery 947 ride Joburg on 17 November 

2019 is fast approaching. We ask all of our past and 

present Muscle Riders and all newcomers to join us 

once again and help us make a difference! 

46


FILADELFIA SCHOOL OUTING 

On Saturday 8 June 2019 we took muscular dystrophy learners from Filadelfia Secondary School in 

Soshanguve, Block L to a local mall, Soshanguve Crossing. Learners were treated to lunch at Spur and some 

games at the venue. 

We would like to thank Spur Soshanguve Crossing for 

sponsoring us with lunch. 

GOLF DAY WITH REDHILL SCHOOL 

We would like to thank Redhill School for organizing a fantastic Golf Day that took place at the Royal Johannesburg 

& Kensington Golf Club on 21 June. MDF Gauteng was one of the beneficiaries of the day and we could 

not be more grateful for the generosity and support! 

47

MDF Magazine Newsletter Issue 59 August 2019

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