MDF Magazine Newsletter Issue 59 August 2019

chikadee

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

Banking details: Nedbank, current

account no. 1958323284

branch code 192841

Pretoria Office

E-mail: swpta@mdsa.org.za

Tel: 012 323-4462

Address: 8 Dr Savage Road, Prinshof,

Pretoria

KZN BRANCH (KZN & part of

Eastern Cape)

E-mail: kzn@mdsa.org.za

Tel: 031 332-0211

Address: Office 7, 24 Somtseu Road,

Durban, 4000

Banking details: Nedbank, current

account no. 1069431362

branch code 198765

General MD Information

Cape Town

Lee Leith

Tel: 021 794-5737

E-mail: leeleith@mweb.co.za

Gauteng

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

• Any diagnosis of LGMD or distal

MD

Rehabilitation Management

• Any diagnosis of LGMD or distal

MD

Strength Training and Exercise

• Any diagnosis of LGMD or distal

MD in people who exercise

• Any diagnosis of LGMD or distal

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

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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.”

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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

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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

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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.

Article available at: https://musculardystrophynews.

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.

Article available at: https://musculardystrophynews.

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.

Gauteng Branch

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


Gauteng Branch

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


Gauteng Branch

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!

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