MDF Magazine Issue 65 August 2021 (2)

MAGAZINE

Winter Issue 65

August 2021

The Wessels family’s FSHD story

At DF, inclusivity

is a verb!

MY JOURNEY

WITH FSHD

Self Registration

Portal

WHEELCHAIRS

ON THE RUN

Roll with us!

424 Ontdekkers Rd, Florida Park, Roodepoort 1709.

Tel:011 955 7007/011 674 0547

http://www.wheelchairs-ontherun.co.za

Choosing the correct equipment to help in the care of a family member with Duchenne muscular

dystrophy can be frustrating with many choices available. From the right manual wheelchair that

can be later used for travel to a durable powerchair designed for the active person to looking for lifts,

bathing support and walking products the options are many.

Wheelchairs on the Run offers innovative and superior quality mobility aids for elders as well as

people with disabilities, which include Electric Wheelchairs. Mobility Scooters, Manual Wheelchairs,

walking accessories and bathroom aids.

Quality mobility accessories are a perfect solution for elders and those with disabilities who can

still walk but need a little assistance in the form of extra support. It is imperative to discuss about

the mobility problems with a healthcare professional so that you can fi nd appropriate care that is

required to keep your loved one active and prevent falls and injuries.

• Manual wheelchairs that are propelled by you, or someone that helps push you. The advantage of

these chairs is they are generally cheaper, lighter weight and easier to transport. However, using

the chair may require a certain amount of arm strength and endurance to meet your daily mobility

needs

• Power wheelchairs/ Electric Wheelchairs that are controlled through a joystick or alternate control

device such those controlled through your head, fi nger, or mouth and have many seating options

including power seating that allows you to raise, lower and recline the seat.

• Mobility Scooters three- or 4- wheeled for people that have trouble walking. They are controlled

by a tiller and lever

Deciding to use a wheelchair or scooter can be an emotional decision and many people are

reluctant to even think about it. However, if a lack of mobility is preventing you from doing the things

you enjoy then you should, consider using equipment that helps you with your mobility

CONTENTS

MDF MAGAZINE

MD Information

10 Charcot-Marie-Tooth disease

12 Myotonic dystrophy

14 At DF, inclusivity is a verb!

16 Disability parking bays & discst

»»

p.10

People

20 A musician with DMD

21 Hope for Jezreel, a survivor in the middle of the COVID-19

pandemic

22 Help & hope for Friedreich’s Ataxia

24 My journey with FSHD

26 The Wessels family’s FSHD story

Regular Features

28 Sandra’s thoughts on “take care”

30 The View from Down Here

32 Kiddies corner

33 Doctor’s corner

34 Random gravity checks

»»

p.42 »»

p.29

»»

p.49

Research

36 Promising research results point to potential cures for two

most common forms of CMT

38 Study may lead to new therapies for patients suffering from

DMD

39 Corticosteroids aid muscle mass in BMD & LGMD, trials

needed

Healthy Living

43 Electronic vaccination data system self-registration portal

40 Dental considerations

44 Care considerations for carriers

46 Foot drop

Published by:

Muscular Dystrophy Foundation of SA

Tel: 011 472-9703

Fax: 086 646 9117

E-mail: national@mdsa.org.za

Website: www.mdsa.org.za

Publishing Team:

Managing Editor: Gerda Brown

Copy Editor: Keith Richmond

Publishing Manager: Gerda Brown

Design and Layout: Divan Joubert

Cover photo of Wessel’s family

Future Issues: December 2021

(Deadline: 2 November 2021)

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 Editor:

Dear reader

It’s mid-July as I’m writing this letter to you. We are now in the sixteenth month of

living with COVID-19. We are in the grip of the third wave and have exhausted our

hospital bed capacity as more and more South Africans fall ill. I don’t think that any

of us were prepared for what hit us in March 2020. As COVID-19 rages on, many

experts are warning of darker days ahead. It is however so important to keep up

morale. Celebrate the small things that provide a distraction from the everyday

drudgery. Find joy in the small things, stay resilient in the fight, and we’ll get through

this together. You are not alone.

In this issue you can read inspirational stories of people affected with muscular dystrophy

and also a very special story of how one school is making a difference in the

life of a boy with facioscapulohumeral dystrophy. There is also an emotional tribute

to a friend who has passed and the significant way in which his life was celebrated.

As usual, there is also enlightening information about muscular dystrophy and research being conducted as well

as our regular features.

You will also get a glimpse of what the National Office and the MDFSA branches have been up to in the last three months.

If there is information that you would like to share with our readers, please feel free to contact the office.

Keep wearing your masks, wash and sanitise your hands and observe social distancing.

Stay safe

Gerda Brown

The Muscular Dystrophy

Foundation of SA would like

to thank Metro FM and 702

fm for raising awareness

about muscular dystrophy.

The Muscular Dystrophy Foundation of SA

would like to thank the National Lotteries

Commission for their support.

4

MDF Notice Board

Subscription and contributions to the

magazine

If you have any feedback on our

publications, please contact the

National Office by e-mail at national@

mdsa.org.za or call 011 472-9703.

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?

Contact the National Office or your

nearest branch of the Muscular

Dystrophy Foundation of South Africa

to find out how you can help with

fundraising events for those affected

with muscular dystrophy.

Fundraising

Crossbow Marketing Consultants

(Pty) Ltd are doing invaluable work

through the selling of annual forward

planners. These products can be

ordered from Crossbow on 021

700-6500. For enquiries contact the

National Office by e-mail at national@

mdsa.org.za or call 011 472-9703.

Contact the National Office or your

nearest branch, or visit our website,

to find out how you can support the

Foundation.

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.

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



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



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



code 198765

General MD Information

Cape Town

Lee Leith

Tel: 021 794-5737

E-mail: leeleith@mweb.co.za

Duchenne MD

Cape

Win van der Berg (Support Group)

Tel: 021 557-1423

Gauteng

Jan Ferreira (Support Group

– Pretoria)

Cell: 084 702 5290

Christine Winslow

Cell: 082 608 4820

Charcot-Marie-Tooth (CMT)

Hettie Woehler

Cell: 079 885 2512

E-mail: hettie.woehler@gmail.com

Facioscapulohumeral (FSHD)

Gerda Brown

Tel: 079 594 9191

E-mail: gmnational@mdsa.org.za

Friedreich’s 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 News

September is MD

Awareness Month

The month of September is International Muscular Dystrophy

Awareness Month. This month is a special opportunity to educate

the public about muscular dystrophy and issues within the muscular

dystrophy community. Raising public awareness of this disease

will continue to facilitate the discovery of treatments and cures and

will bring much needed funding for support and services for families

affected by muscular dystrophy.

You are invited to celebrate this special month with us by participating

in the “Get into the Green Scene” awareness campaign during

September 2021 (green being the colour of the MD awareness

ribbon). The goals of the programme are twofold.

• Firstly, individuals are requested to change their profile pictures

on Facebook and WhatsApp to the campaign logo.

• Secondly, participants in the campaign are requested to share

photos of where they have “gone green” on our Facebook wall

(https://www.facebook.com/Muscular-Dystrophy-Foundation-of-

South-Africa-149623611747782/?ref=aymt_homepage_panel)

or e-mail them to gmnational@mdsa.org.za.

6

MDF merchandise

Please email your order and proof of payment to

gmnational@mdsa.org.za

Masks are

available in

S-M & L-XL:

R60,00 each.

Embroidered

decals: R100,00

T-shirts are

available in

S-M & L-XL:

R130.00

Please note that the delivery

charge is for your cost.

Mug

R60,00 each.

Water bottle

(500 ml) R50.00

Notebook

water bottle

(380 ml) R100.00

Bottle opener

R50.00

MDFSA would also like to say a big thank you to Tamryn Oosthuizen for

designing the beautiful artwork for our fundraising campaigns free of

charge.

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, 18 September 2021 via MS Teams or Zoom. The link will be circulated in due

course.

The national AGM will be held via MS Teams after the branch AGMs.

RSVP: Please let the relevant branch know by 14:00, Monday, 13 September 2021 whether you will

be able to attend.

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 Dianne at

capemanager@mdsa.org.za

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

gmgauteng@mdsa.org.za

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

accountskzn@mdsa.org.za

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

MDFSA Executive Committee

8

I/We will be attending the Annual General Meeting on Saturday, 18 September 2021.

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 18 September 2021 and at any adjournment thereof.

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

Name:

Signature:

Date:

___________________________________________

___________________________________________

___________________________________________

9

MD Information

CHARCOT-MARIE-

TOOTH DISEASE

BY MAYO CLINIC

Overview

Charcot (shahr-KOH)-Marie-Tooth disease is a

group of inherited disorders that cause nerve

damage. This damage is mostly in the arms and

legs (peripheral nerves). Charcot-Marie-Tooth

disease is also called hereditary motor and sensory

neuropathy.

Charcot-Marie-Tooth disease results in smaller,

weaker muscles. You may also experience loss of

sensation and muscle contractions, and difficulty

walking. Foot deformities such as hammertoes and

high arches also are common. Symptoms usually

begin in the feet and legs, but they may eventually

affect your hands and arms.

Symptoms of Charcot-Marie-Tooth disease typically

appear in adolescence or early adulthood, but may

also develop in midlife.

Symptoms

Signs and symptoms of Charcot-Marie-Tooth

disease may include:

• Weakness in your legs, ankles and feet

• Loss of muscle bulk in your legs and feet

• High foot arches

• Curled toes (hammertoes)

• Decreased ability to run

• Difficulty lifting your foot at the ankle (footdrop)

• Awkward or higher than normal step (gait)

• Frequent tripping or falling

• Decreased sensation or a loss of feeling in your

legs and feet

10

MD Information

As Charcot-Marie-Tooth disease progresses, symptoms

may spread from the feet and legs to the

hands and arms. The severity of symptoms can

vary greatly from person to person, even among

family members.

Causes

Charcot-Marie-Tooth disease is an inherited,

genetic condition. It occurs when there are mutations

in the genes that affect the nerves in your feet,

legs, hands and arms.

Sometimes, these mutations damage the nerves.

Other mutations damage the protective coating that

surrounds the nerve (myelin sheath). Both cause

weaker messages to travel between your limbs and

brain.

Risk factors

Charcot-Marie-Tooth disease is hereditary, so

you're at higher risk of developing the disorder if

anyone in your immediate family has the disease.

Other causes of neuropathies, such as diabetes,

may cause symptoms similar to Charcot-

Marie-Tooth disease. These other conditions can

also cause the symptoms of Charcot-Marie-Tooth

disease to become worse. Medications such as the

chemotherapy drugs vincristine (Marqibo), paclitaxel

(Abraxane) and others can make symptoms

worse. Be sure to let your doctor know about all of

the medications you're taking.

Complications

Complications of Charcot-Marie-Tooth disease vary

in severity from person to person. Foot abnormalities

and difficulty walking are usually the most

serious problems. Muscles may get weaker, and

you may injure areas of the body that experience

decreased sensation.

Sometimes the muscles in your feet may not receive

your brain's signal to contract, so you're more likely

to trip and fall. And your brain may not receive pain

messages from your feet, so if you've rubbed a

blister on your toe, for example, it may get infected

without your realizing it.

You may also experience difficulty breathing, swallowing

or speaking if the muscles that control these

functions are affected by Charcot-Marie-Tooth

disease.

Article available at: https://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/

symptoms-causes/syc-20350517

11

MD Information

MYOTONIC

DYSTROPHY (DM)

BY MUSCULAR DYSTROPHY ASSOCIATION

What is myotonic dystrophy (DM)?

Myotonic dystrophy (DM) is a form of muscular dystrophy

that affects muscles and many other organs

in the body.

The word “myotonic” is the adjectival form of the

word “myotonia,” defined as an inability to relax

muscles at will.

The term “muscular dystrophy” means progressive

muscle degeneration, with weakness and shrinkage

of the muscle tissue.

Myotonic dystrophy often is abbreviated as “DM” in

reference to its Greek name, dystrophia myotonica.

Another name used occasionally for this disorder

is Steinert disease, after the German doctor who

originally described the disorder in 1909.

What causes DM?

DM is divided into two types.

Type 1 DM (DM1), long known as Steinert disease,

occurs when a gene on chromosome 19 called

DMPK contains an abnormally expanded section

located close to the regulation region of another

gene, SIX5.

Type 2 DM (DM2), recognized in 1994 as a milder

version of DM1, is caused by an abnormally

expanded section in a gene on chromosome 3

called ZNF9. DM2 was originally called PROMM,

for proximal myotonic myopathy, a term that has

remained in use but is somewhat less common

than the term DM2.

The expanded sections of DNA in these two

genes appear to have many complex effects on

various cellular processes. In both DM1 and DM2,

the repeat expansion is transcribed into RNA but

remains untranslated in protein.

These conditions are some of the most common

forms of adult-onset muscular dystrophy. DM is the

12

MD Information

most common muscular dystrophy among adults

of European ancestry. The prevalence of DM is

about 10 cases per 100,000 individuals. Among

nonwhite populations, DM1 is uncommon or rare.

Reports from Europe suggest the prevalence of

DM2 is similar to that of DM1.

What are the symptoms of DM?

DM causes weakness of the voluntary muscles,

although the degree of weakness and the muscles

most affected vary greatly according to the type of

DM and the age of the person with the disorder.

Myotonia, the inability to relax muscles at will, is

another feature of DM. For example, it may be difficult

for someone with DM to let go of someone's

hand after shaking it.

As the disease progresses, the heart can develop

an abnormal rhythm and the heart muscle can

weaken. The muscles used for breathing can

weaken, causing inadequate breathing, particularly

during sleep.

In addition, in type 1 DM, the involuntary muscles,

such as those of the gastrointestinal tract, can be

affected. Difficulty swallowing, constipation, and

gallstones can occur. In females, the muscles of

the uterus can behave abnormally, leading to complications

in pregnancy and labor.

The development of cataracts (opaque spots in the

lenses of the eyes) relatively early in life is another

characteristic of DM, in both type 1 and type 2.

Overall intelligence is usually normal in people

with DM but learning disabilities and an apathetic

demeanor are common in the type 1 form. In congenital

DM1, which affects children from the time

of birth, there can be serious impairment of cognitive

functioning. These children also may have

problems with speech, hearing, and vision fatigue.

Generally, the earlier DM1 begins, the more profound

the symptoms tend to be. …

DM2 has a better overall prognosis than DM1. The

symptoms are often relatively mild and progress

slowly. DM2 rarely occurs during childhood, and

there is no known congenital-onset form of DM2.

What is the progression of DM?

The progression of DM varies greatly among individuals,

but in general, symptoms progress gradually.

Life expectancy is clearly reduced for patients with

congenital DM1 and is likely reduced for patients

with childhood DM1 and classic (adult-onset) DM1.

The most common type of DM1 — the adult-onset

form — begins in adolescence or young adulthood,

often with weakness in the muscles of the face,

neck, fingers, and ankles. The weakness is slowly

progressive for these and eventually other muscles.

When DM1 begins earlier in life than adolescence

— the congenital-onset and childhood-onset forms

of the disease — it may be quite different in progression

from the adult-onset type. Children with

congenital-onset DM1, once they survive the crucial

neonatal period of respiratory muscle weakness

with the help of assisted ventilation, usually show

improvements in motor and breathing functions.

They may have cognitive impairment, delayed

speech, difficulty eating and drinking, and various

other developmental delays.

The childhood-onset form of DM1, before the age

of 10, is more often characterized by cognitive and

behavioral abnormalities than by physical disabilities,

such as intellectual impairment, attentional

deficits, executive dysfunction, anxiety, and mood

disorders. Eventually, muscle symptoms develop,

to varying degrees.

DM2 is, in general, a milder disease than type 1. It

does not appear to have a congenital-onset form

and rarely begins in childhood.

In contrast to type 1 DM, the muscles affected first

in DM2 are the proximal muscles — those close to

the center of the body — particularly around the

hips. However, some finger weakness may be seen

early as well. The disorder progresses slowly, but

mobility may be impaired early because of weakness

of the large, weight-bearing muscles.

What is the status of research on DM?

Identification of the genetic mutations underlying

DM1 and DM2, and understanding at least in part

how the mutations cause disease, has opened up

avenues for therapy development in DM.

Most of the strategies currently in development aim

to block the harmful effects of the expanded DNA

in the DMPK gene (type 1) or the ZNF9 gene (type

2). …

Article available at: https://www.mda.org/

disease/myotonic-dystrophy

13

MD Information

AT DF, INCLUSIVITY

IS A VERB!

BY ARINDA AGGENBACH

PHOTOS COURTESY OF ARNOLD HATTINGH

Unfortunately, with the progression of his medical condition,

it was inevitable that Leon would eventually require

a motorised device. In this respect, Leon and DF did not

accept “impossible”, and the wheels were set in motion

to make it possible for Leon AND future learners who

use wheelchairs to attend our beloved school. This has

all been part of our path to becoming the school we all

dream of.

It is our mission at DF Malan High School to be a true

community school that provides quality education to ALL

learners who can benefit from it. To achieve this, we

launched the “I’m Possible” project in 2016 (https://www.

youtube.com/watch?v=3xikrVODVK0&t=20s).

This year we are “building” on this to make our school

accessible for learners in wheelchairs. This is one of the

largest humanitarian projects ever undertaken at DF.

The DF family is not about something as impersonal as a

project. Like everything at this school, it's about the learners.

In 2020 we became richer through having a special

Grade 8 learner, Leon-Louis Wessels. Leon suffers from

FSH muscular dystrophy, and the effort it took to get to

his classes with a heavy suitcase and all the stairs was

overwhelming. But Leon is a determined young man and

with the help of friends who carried his suitcase and of

teachers who persuaded him to come early, ahead of

the other learners gathering in the corridors, he faithfully

showed up in all his classes.

But achieving this is a big project. Several sets of stairs

between the two floors of the school and between levels

on the same floor have had to be dealt with, as well

as the spread of classes between different buildings.

Bearing in mind the needs of someone in a wheelchair,

and after thorough consultation with all the parties, a

plan was drawn up. To get from one level to the next,

several ramps were built (the largest in the foyer and at

the two levels of floor 1), and provision was made for an

elevator between floors 1 and 2 of the main building. In

addition, galvanised kerbs had to be inserted as well as

temporary, removable ramps and a rainwater grid over

a watercourse.

A very important question was what to call the project.

True to DF, the learners have the most creativity and

they gave us the name, which fits so well with the traditions

of the school. Once upon a time the school had a

swimming pool, which then "climbed out" during a school

holiday, and then the area became known as Wassebad,

which is now also the name of our Friday hall meeting

in the activity centre that was built in place of the pool.

Previous Matrics at the school had a “hangout” place

under the trees at the school's boundary fence. However,

for security reasons it was no longer suitable and the

Matrics were then given an area for their exclusive use.

Its name: Wasseboom. So, how appropriate is it now to

call this new project “WASSETRAP”!

14

MD Information

As with everything, cost is always a determining factor.

However, no price should ever be placed on the education

of ALL our youth. Leon's very enthusiastic parents,

Gerrit and Anneke Wessels, together with other businesses,

developed the draft plan and allocated an

amount for the project, and the school undertook to be

responsible for the outstanding amount.

With great enthusiasm, fundraisers in the school have

been chosen. The learners in the various class registers

challenge each other to see who can raise the most

money! Cars are being washed, colourful masks and ice

cream are being sold. The alumni are also used, and they

challenge each other in year groups to allocate money.

The project came to a point where we closed our eyes,

confidently saying, yes, build the elevator! The bill came

and, like a miracle, we received a very large donation

from one of our alumni, Marcel Botha and his company,

10XBeta, in New York. Marcel and his company are

innovative in their thinking and last year during the stranglehold

of COVID-19 in New York, they developed a new

ventilator at a fraction of the price of existing ventilators.

So he knows of audaciousness, and Leon's story

inspired them to help.

So Leon and his “car” are now a familiar sight in DF's corridors!

The man is always in a hurry, and like a racer he

speeds up the slopes, steams down the corridors, and

in reverse gear "parks" in the elevator, ready to quickly

pull away on the second floor to his class. To us, Leon

is a paragon of a DF learner: curious, unstoppable and

determined!

At DF we not only dream, we put action into words. Our

inspiration remains our incredible learners, of whom Leon

is an example for us every day of making the impossible

possible!

15

MD Information

DISABLED PARKING

BAYS AND DISCS

BY DISABILITY INFO SOUTH AFRICA

(ADAPTED AND EDITED)

Introduction

Wheelchair parking bays and discs are for persons who

use wheelchairs and drive themselves or who are transported

in a vehicle. These wheelchair parking bays are

set aside for wheelchair users and persons with disabilities.

They are not only close to the entrance of the venue

concerned but are also wider than the average parking

bay, being traditionally 3 500 mm wide to cater for a

wheelchair user, who needs the extra space to enter or

exit the vehicle. This extra space helps these transfers to

be done safely for the wheelchair user and helps prevent

the vehicle in the parking space alongside from getting

damaged. Persons who use these parking bays need to

apply for a wheelchair parking permit, also known as a

"disabled parking permit", "handicapped permit", "disabled

placard" or "disabled badge", which is displayed

on the vehicle upon parking it in one of these bays.

Who can use these parking bays?

According to section 137 of the Road Traffic Act 29 of

1989, municipalities provide for special parking spaces

for people with prescribed disabilities or persons who

transport them. These parking spaces can be identified

by a vertical sign showing the international symbol for disability,

which is also clearly painted on the road surface.

The permit allows exemption from street-parking charges

in some places and is used to park within dedicated disabled

parking spaces reserved for people who have satisfied

requirements to receive the placard. If you have a

disabled parking disc, you need to display the disc clearly

in your windscreen area.

16

MD Information

The QuadPara Association of South Africa (QASA) is

adamant that if you do not use a wheelchair, then you

must not use the wheelchair parking facilities. The extra

space helps the following:

• a wheelchair user to transfer into their wheelchair from

their car;

• the helper of a person who uses a wheelchair to park

the wheelchair next to the car so that they can lift the

person from the car and place them in the wheelchair;

and

• the helper of a person who uses a wheelchair to offload

a person from a kombi in a wheelchair down ramps or

with a wheelchair lift.

Currently a parking disc will be issued for up to five years,

after which the applicant must reapply. These badges are

standardised to facilitate recognition and to avoid difficulties

at local level. Since 2000, all general disabled

parking permits have had a common style and blue

colour, leading to the officially used designation “blue

badge”. Temporary discs are also issued for short-term

disabilities (three to nine months), but the same process

has to be followed.

If you are a visitor to South Africa and have an international

disabled parking permit, this would be acceptable

to use for a period of up to a month, but if a visitor

is staying for more than a month, they should apply for

a temporary disabled parking permit.

How do you apply?

There are a number of organisations to which you can

apply to register and receive a disabled parking disc.

These include the National Council of and for Persons

with Disabilities (NCPD), the QuadPara Association of

South Africa (QASA) and an APD in your province. Each

province has different procedures with regard to the application

for parking permits for persons with disabilities, but

if you apply for your parking disc from organisations such

as QASA, the disc can be used throughout South Africa.

vehicle at public venues by using the extra space that

the wheelchair parking bays provide. You can apply to

register and receive a disabled parking disc from QASA

if you are using a wheelchair on a temporary or permanent

basis. You will be required to fill out an application

form, which will also need to be completed by your doctor

confirming that your mobility is severely impaired by an

ongoing physical condition, or that your mobility is temporarily

but severely impaired. You will need to download

the form via the link below and print it out once it

has been completed by you and your doctor, and you will

need to e-mail it back to QASA via the e-mail address

info@qasa.co.za.

Once they have received your form they will consider

your application and be in contact with you once it has

been approved.

The QASA Parking Permit Application Form 2019 is available

at the following web address:

http://disabilityinfosa.co.za/wp-content/uploads/qasa_

wc_parking_permit_application_february_2019.pdf

If you need to contact QASA, you can do so using any

of the following details:

Postal address: PO Box 2368, Pinetown 3600

Street address: 17 Hamilton Crescent, Gillitts 3610

Telephone: 031 767 0352 / 767 0348

Fax: 031 767 0584

E-mail: info@qasa.co.za

Website: www.qasa.co.za

Below are listed the procedures that you need to follow

to register a parking disc with the National Council of and

for Persons with Disabilities (NCPD) or QASA. If you wish

to register your disabled parking disc in a province not

listed below, we recommend that you contact your local

association for physically disabled persons (APD) for the

procedures in your area.

The National Council of and for Persons with Disabilities

The National Council of and for Persons with Disabilities

(NCPD) can also supply information and assist with registering

and applying to use a disabled parking disc so

as to park in parking spaces for people with disabilities.

QASA

QASA runs a number of projects and services including

the provision of parking discs for persons who use wheelchairs

so that they can easily transfer into and out of their

17

MD Information

Western Cape

If you have a disability, you can apply for a disabled

parking disc from your local municipality. This disc allows

you to park in disability parking bays, and in certain circumstances

it exempts you from parking provisions.

To qualify for a disabled parking disc in this province, you

need to have a letter from your doctor confirming that

your mobility is severely impaired by an ongoing mental

or physical condition, or that your mobility is temporarily

but severely impaired.

Some municipalities require the doctor to complete a

section of the form, so the form needs to be collected

beforehand. The Western Cape government suggests

that you contact your local traffic department to confirm

whether you require a doctor’s letter or a form. You

can download the Western Cape parking permit application

form at https://www.wcapd.org.za/wp-content/

uploads/2019/01/Parking-disc_appl.pdf.

KwaZulu-Natal

In KwaZulu-Natal, the issuing of parking discs for

persons with disabilities is regulated by the Quadriplegic

Association KZN. Drivers need to apply for an official disabled

parking disc. A detailed application process has

been developed by the Association.

The application procedure for an accessible parking disc

is as follows:

• All the relevant documents must be completed in full by

the applicant as well as his or her medical practitioner.

• The application should be accompanied by a medical

certificate from a registered health professional or an

occupational therapist, physiotherapist or medical

doctor.

• The applicant must then send the completed documents

back to the Quadriplegic Association KZN, with

a certified copy of the applicant’s ID document.

• The disc is registered in the applicant’s name and can

be used with any vehicle.

• Once the form has been filled in you can e-mail it to

them at: qan@mweb.co.za.

application forms. Contact details can be found online

at: http://www.gpapd.org/index.php/gauteng-provincialassociation-for-persons-with-disabilities-contact-us

• All the relevant documents must be completed in full

by the applicant and his or her medical practitioner.

• The application should be accompanied by a medical

certificate from a registered health professional or an

occupational therapist, physiotherapist or medical

doctor.

• The applicant must then send the completed documents

back to the GPAPD, with a certified copy of the

applicant’s ID document.

• The disc is registered in the applicant’s name and can

be used with any vehicle.

Once the above is completed, the applicant will have to

appear before a screening panel, who then pursue the

final application on behalf of the applicant with the relevant

authorities.

Other provinces

If your province is not listed above, we recommend that

you contact your local association for physically disabled

persons (APD) for the procedures in your area.

Original article available at: http://disabilityinfosa.co.za/

mobility-impairments/current-accessible-features/

parking-bays/#Gauteng

You can also phone them on 031 701 7444 or 082 875

2131.

Gauteng

In Gauteng, the issuing of parking discs for persons

with disabilities is regulated by the Gauteng Provincial

Association for Persons with Disabilities (GPAPD).

Drivers need to apply for an official disabled parking disc.

A detailed application process has been developed by

the GPAPD. The application procedure for an accessible

parking disc is as follows:

• Contact your local Gauteng Provincial Association

for Persons with Disabilities (GPAPD) to request the

18

GETTING YOUR COVID-19 VACCINATION?

THANK YOU FOR PROTECTING YOURSELF AND OTHERS.

All vaccines approved by South African Health Products Regulatory Authority

(SAHPRA) have been proven to be safe and effective.

COVID-19 VACCINE SIDE EFFECTS

Headache

Joint & muscle

Chills

Tiredness

Fever Pain & swelling at

aches

the injection site

Some people may have side effects after being vaccinated, here’s what to look

out for: headache, joint aches, muscle aches, pain at the injection site, tiredness,

chills, fever and swelling at the injection site.

These side effects usually last for 2-3 days, you can take paracetamol. Should the

side effects worsen, you should contact your healthcare provider immediately.

These side effects show your body is mounting an immune response.

For assistance and more information on how to register contact the

COVID-19 toll-free hotline on 0800 029 999.

GAUTENG

PROVINCIAL GOVERNMENT

REPUBLIC OF SOUTH AFRICA

PEOPLE

A musician with Duchenne muscular dystrophy

A musician with Duchenne muscular dystrophy will release his

latest single on 30 April, using rock music to challenge

pre-conceptions about life with disability

By Muscular Dystrophy UK

Alex James is an alternative indie rock band, based in

Newton Aycliffe, whose music features raw rock and roll

sounds.

The four-man group is fronted by Alex Kennedy,

a wheelchair user who has Duchenne muscular

dystrophy, a muscle-wasting condition.

The band aims to follow the rock music tradition of

challenging beliefs – in their case of what disabled

people can do – through live performance.

Alex formed the band in 2019 when he and a group

of friends got together to make some good music.

Gradually it developed into something more meaningful.

Alex, 24, said: “Our music has a combination of

thumping bass lines, intricate guitar riffs and vocal

melodies that you can’t help but sing along to.”

Their latest song “I said that you looked fine” will be

available from 30 April to stream on all major platforms,

including Spotify, Apple Music and YouTube.

It follows their debut single ‘Direction’ achieving one of

their 2021 goals, which includes having a live gig, with

a live audience. Alex was diagnosed with Duchenne

muscular dystrophy at the age of four, after one of his

reception school teachers noticed he had difficulty in

getting up from the floor.

He said: “It is very exciting to show what someone with a

life-limiting condition can do. The band’s aim is to raise

awareness of disabilities, to provide further insight into

the importance of accessibility within the music scene,

and to prove that someone with a disability can do this.”

Alex is also training to become a primary school

teacher, specialising in music. He is passionate about

educating the younger generation and preparing them

for the world.

“Being a teacher and musician releasing music is truly

empowering for myself as a person with Duchenne.”

Alex has always wanted to share his music with

wider communities and to help people with muscular

dystrophy and other disabilities a great example of

what can be achieved.

He said: “We are hoping to work closely with Muscular

Dystrophy UK from now on to build awareness. That will

be through staging charity performances and releasing

more music. It’s very exciting. We are very proud to be

a wheelchair-fronted rock band.”

Susanne Driffield, MDUK Regional Development

Manager for North East and Cumbria, said: “It’s great

to have such a vibrant and unique band join our

community in the North East. I’m looking forward to

spreading the world about Alex James performances

and music releases.”

Article available at: https://www.

musculardystrophyuk.org/your-stories/amusician-with-duchenne-muscular-dystrophywill-release-his-latest-single-on-30-april-usingrock-music-to-challenge-pre-conceptions-aboutlife-with-disability/

20

PEOPLE

Hope for Jezreel, a

survivor in the middle

of the Covid-19

pandemic

By Iris Govender

It was the toughest decision to make considering that

Jezreel had decided previously that he did not want to

be connected to any machines. But I suppose if you

are in a life and death situation, you will choose what

is necessary for life. Jezreel chose life, and his wishes

were respected.

Jezreel Govender, my son, was diagnosed with

Duchenne muscular dystrophy (DMD) at the age of 6.

He is now 19 years old and, as happens with DMD, his

condition has deteriorated over the years but is now

stable.

It was Thursday, 7 January 2021, when Jezreel had

breathing problems just before his favourite lunch.

As the breathing worsened, he told me to take him

to the hospital, which was strange for someone who

didn’t like going to hospital. However, he was rushed

to Life Mount Edgecombe Hospital. I was terrified

going to hospital during the Covid-19 pandemic. To my

surprise, when we arrived at the ER Department it was

empty. Jezreel was immediately seen to and all the

necessary blood tests and X-rays were done including

the Covid-19 test. I was allowed to be with Jezreel due

to his lack of mobility.

He was consulted by his neurologist Dr Pam Rapiti,

who requested a blood gas analysis since she was

concerned that he was so distressed and drowsy.

Following the results, Jezreel was transferred to the

Surgical ICU and was connected to a CPAP machine.

Early in the morning Dr Jairam (specialist physician

and endocrinologist) was called in. He advised me that

Jezreel was critical and the CPAP was not working and

the other option was a ventilator. Jezreel had to be

intubated as an emergency.

Jezreel lay connected to the ventilator with little

improvement. He was diagnosed with aspiration

pneumonia. The ICU was our home for many days. It

was as though we were disconnected from the outside

world due to the virus. The only ‘TV’ I watched was

all the machines and screens connected to him as he

lay helpless in bed. I was by his side, watching and

praying. He was visited by his paediatrician, Dr Roshni

Govender. Standing by his bedside, she clasped her

hands together, closed her eyes and whispered a

prayer, a beautiful yet emotional sight. She left with

eyes flooded with tears and lots of encouragement.

After Jezreel had spent many days in hospital with no

improvement, Dr Rapiti gently spoke to us about his

having a tracheostomy and a G-tube in order to survive.

Jezreel had a contagious infection, and I was at risk

staying by his side. I was devastated as this would be

our first separation. We both cried! I had to be strong

for him amidst the emotional trauma, motivated him

and left heartbroken. After a few weeks I was permitted

to return to hospital if my Covid-19 test was negative.

My bag was packed and I was ready to return to the

hospital. My world came crashing down when my

Covid-19 result was positive! I was distraught and

there were no more tears to shed. Once again I had to

be separated from Jezreel with a 14-day quarantine.

As the days went by I received video calls from some

special angels (nurses) in hospital and my daily calls.

All in all, Jezreel spent 77 days in hospital accompanied

by pain, heartache, emotional and physical stress and

the uncertainty of the unknown, because the first day

he was admitted was the day I was preparing for his

last. Our lives have changed drastically. At times when

the stress of life gets to me and all hope is lost, I regain

my strength and hope when I think of Jezreel and his

miracle of life. Our faith in God carried us through this

rollercoaster journey.

I thank God daily for giving Jezreel a second lease

on life, and he is home with us. I thank my husband,

Rajen, and daughter, Alenora, son-in-law, Daniel, and

3-year-old granddaughter, Azalea, who also checks

if Jezreel is okay. In a short space of time we had to

learn everything that comes with caring for a child

with Duchenne muscular dystrophy on BiPAP, oxygen

concentration, oximeter and suctioning machines. The

list goes on as there is so much more. I’m grateful to

my employer for allowing me to continue to work from

home. Special thanks to Dr Jairam and Dr Rapiti for

being there for us, especially for Jezreel, and going

beyond the call of duty. I’m grateful to Mr Kooven

Naidu for sponsoring the BiPAP machine when he

heard about Jezreel’s need. Thanks to all my family

and friends for their love, support and prayers when

needed most. Appreciation also to management and

staff of Life Mount Edgecombe Hospital and Discovery

Medical Aid.

The Bible scripture that gave us hope from day one and

in our daily devotions is Jeremiah 29, verse 11 (NIV):

“For I know the plans I have for you,” declares the

LORD, “plans to prosper you and not to harm you,

plans to give you hope and a future.”

PEOPLE

Help and Hope for

Friedreich’s Ataxia

By Claire Sykes

Muscular Dystrophy Association

FA usually is not apparent in young children. It often is

diagnosed between ages 10 and 15, although it has

been found in kids as young as 2 and in adults.

The first signs of FA typically are trouble with balance

and coordination. “Kids with FA also could have a loss

of reflexes and abnormal coordination in the legs,” says

David Lynch, MD, PhD, a neurologist at Children’s

Hospital of Philadelphia and director of its Friedreich’s

Ataxia Program.

The disease generally progresses slowly, over

decades, and the sequence and severity of symptoms

vary among individuals. After several years, speech

can become slurred or jerky. Difficulty swallowing,

loss of touch sensation, and lack of coordination in the

arms and hands are not uncommon. About two-thirds

of those with FA develop scoliosis, or curvature of the

spine. About half experience cardiac defects, from the

mild to the life-threatening, with heart failure the chief

cause of death in FA.

Diagnosing FA

Bella, a 15-year-old in Fort Worth, Texas, loves jellyfish,

horses, anime, Billie Eilish, reading sci-fi and fantasy,

and making art. But living with Friedreich’s ataxia (FA)

makes it hard for her to engage in some of her favorite

activities. “I can draw and paint for only a few minutes

before my hand starts to hurt, so I usually take a break

and then start again,” Bella says.

What is FA?

Named after Nikolaus Friedreich, a German physician

who first described it in 1863, about one in 50,000

people worldwide have FA. It impacts mainly the spinal

cord and nerves that connect it to the muscles and

sensory organs (eyes, ears, nose, tongue and skin).

The part of the brain that helps with movement, the

cerebellum, also is affected, but not the parts related to

mental functioning.

The first step to diagnosing FA is a blood test. Many

people with FA have a severe lack of frataxin, a protein

that helps regulate iron levels. Without enough frataxin,

the mitochondria, a crucial energy source found in most

of the body’s cells, become damaged. Genetic testing

is the only way to reach a definite diagnosis of FA.

It took several years for Bella to get there. “She met all

the developmental milestones as a baby and toddler,”

says her mother, Cassandra Smith. When she was in

elementary school, her family noticed she was “walking

clumsily, as if she was drunk.” At age 9, an X-ray for an

unrelated reason revealed that she had scoliosis. But

Bella’s blood test came back normal, and an MRI didn’t

find any changes in the cerebellum that would explain

her trouble walking.

Still, Bella’s symptoms persisted, and even worsened.

In middle school, a physical therapist suggested she

wear leg braces. By the time she was 13, she lacked

reflexes in her legs and feet. That’s when the tests that

point to nerve damage — nerve conduction velocity

(NCV) and electromyography (EMG) — suggested she

had FA. A genetic test confirmed it.

22

PEOPLE

Living with FA

Getting a diagnosis of FA is important, because it helps

doctors determine the best treatment. “The sooner you

find out, the better the response to therapy most likely,”

Dr. Lynch says.

Treatment usually involves physical and occupational

therapy, which can help maintain coordination and

strength as long as possible. “Most people with FA

retain strength in their legs, so they can still exercise

them, plus their upper extremities. And it’s important to

keep standing to protect the bones,” Dr. Lynch says.

“The most challenging thing for me right now is not

being able to walk that well,” Bella says. She uses a

wheelchair when she’s at school and in public. “I try

not to let it get me down. I can still pick up a book and

read, and I hang out and have fun with my friends. Just

because I’m disabled doesn’t mean I can’t do anything

or that you have to treat me like I’m fragile. I just need

to make a few adjustments, and I need help.”

When Bella doesn’t use her wheelchair, she walks

holding onto someone. Her siblings are often there to

support her. She also has a service dog in training, a

goldendoodle named Oliver, who picks things up and

opens doors for her. “She’s trying to maintain her

independence as much as possible,” Cassandra says.

Dr. Lynch urges people with FA, especially teens, to

avoid becoming isolated. Staying involved with family

and friends, as well as with the FA community, including

local support groups and national fundraisers, are

among the ways Bella and her family stay connected

to others.

Looking Ahead

Bella is both realistic and unsure about the future.

“Eventually I won’t be able to walk at all, but I don’t

really know how it will be,” she says. “I guess I’d like to

go to college. But I don’t really think about the future. I

like to just live in the moment.”

Cassandra is thinking of the future and hoping for new

treatments and a cure. In the meantime, she wants

Bella to accomplish all she can and feel proud of it.

Fortunately, support for FA research is growing. “A large

number of companies are performing clinical trials in

FA drugs, and three to four are active in all phases of

research,” says Dr. Lynch.

This progress is thanks to research done in the past

decade and beyond that revealed the genetic cause

and how the disease affects the body. “We’re now in

our 18th year of a natural history study. This has led

to advances in drug development, leading to agents

such as omaveloxolone, which is being weighed

by the FDA [US Food and Drug Administration] for

approval.” Designated by the FDA as an orphan drug,

omaveloxolone works on the level of the mitochondria

to improve motor function. Dr. Lynch encourages people

with FA to participate in research studies whenever

possible.

Article available at: https://strongly.mda.org/helpand-hope-for-friedreichs-ataxia/

23

PEOPLE

MY JOURNEY

WITH FSHD

By Christel Rohrs

I have always been an athletic person. I am 53 years

old. I spent my youth playing sport, running, and

bodybuilding, and before and after work I earned extra

money doing personal training and instructing aerobics.

So my life revolved around exercise, and I never went a

day without running or weight training.

In 2010 I noticed that I needed to swing my right arm

and gain momentum to lift it up. When training with

weights, I could no longer go as heavy in my upper body.

I also felt pain and weakness in my lower back when

running. I was still doing mission work in Thailand and

the USA during that time, so it was only in 2011 when

I returned to South Africa that a friend noticed the bad

winging of my right scapula. I went to a physiotherapist

and I received a few exercises to do to strengthen the

serratus anterior muscles.

I did these exercises regularly and yet didn’t feel any

improvement. I tried to ignore the pain and deteriorating

movement in lifting my right arm. It was uncomfortable

running too. I completed two Comrades Marathons,

in 1995 and 2000, and was still running at least 8

km every day, but every week the distances were

decreasing because my muscles felt fatigued and my

lower back was paining. Eventually I started walking

more and running less, and my distances decreased

to a maximum of about 3 km per day. I was not feeling

good about myself, and the pain and discomfort

made the effort of moving worse every day, especially

because I had no knowledge of the reason for or cause

of this. I had seen two orthopaedic surgeons. X-rays

were done and I was sent away with the news “nothing

is structurally wrong, so just keep doing exercise”. I

felt very disillusioned. I blamed myself, believing that I

was just getting weak because I hadn’t trained enough.

Doctors had no explanation, so it must be my fault.

In 2014 I returned to Thailand to do mission work in

Chiang Mai. I was a volunteer, counselling the girls

rescued from child sex trafficking, and my energy was

invested in this cause. In 2015 I returned home for a

visit. I consulted another two orthopaedic specialists,

this time in the Durban area. Their diagnosis was the

same as the other two surgeons I had seen previously.

When I returned to Thailand, I was given the opportunity

to see a specialist in Kuala Lumpur, who told me that the

cause of my badly winging scapula was inflammation. I

went on natural meds to reduce inflammation. It helped

reduce the pain, but my upper body movement ability

was deteriorating weekly. I almost gave up.

In 2016, on my visit home, I had a surgery called

“pectoral muscle transfer”. This was to support my right

scapula and lessen the winging. The surgery failed. My

right shoulder fell forward. The pain increased, putting

more strain on my neck and back, and my range of

movement decreased. The surgeon had no explanation.

As a volunteer in Thailand, I had no medical aid in

South Africa. I had a good medical aid in Thailand, but

the Thailand surgeons had never seen any condition

like mine so they suggested I return home. One of

my amazing financial supporters paid for my surgery

(R100 000), so the fact that it had failed made me very

despondent and deeply disappointed.

I saw an orthopaedic specialist in Cape Town, and it

was arranged that I would have another surgery in a

government hospital (Tygerberg Hospital), but I would

need to be on the waiting list. In desperation I searched

for an orthopaedic surgeon in the United States, Dr

Bassem Elhassen, who was working with Mayo Clinic.

His name had been given to me by a surgeon in Cape

Town, and I wrote to him. He was very empathetic with

my situation and my financial constraints as a volunteer.

24

PEOPLE

He promised he would help me when the opportunity

arose. In March 2017 I returned to South Africa to have

the scapula fusion surgery on 31 March in Tygerberg

Hospital. This surgery also failed.

I had constant pain and discomfort. My left scapula was

winging badly too, brought on from over-use because I

could no longer use my right arm. I returned to Thailand

disheartened and in a lot of pain. However, I focused my

energy on the work I still wanted to do with counselling

the girls. I chose not to let my physical condition deter

me or to give up hope.

As a result of this surgery my right shoulder no longer

falls forward. I am still in a lot of pain in my neck,

scapulae areas and lower back. I can no longer walk

longer than 15 minutes before needing to sit, and as

each minute passes the speed at which I take each

step decreases. I can’t get up on my toes anymore,

and “jumping for joy” is no longer possible. Reaching

for coffee cups, showering and washing my hair are

all daily routine functions that I now do creatively and

differently. Getting dressed also has its challenges. I lie

down on my bed to put my blouses and dresses on, and

I sit to put my shoes on. When lying down I can achieve

more with my arms than when sitting or standing,

because in this situation my arm movements are aided

more by gravity. Being in the heated swimming pool is

my “happy place”. I have no pain in the water and I do

aqua therapy for exercise. I force myself every day to

go to the swimming pool so that my muscles don’t get

slack and will remember that they are necessary.

Every day I remind myself that there is hope, there is

love and there is faith. I can choose to be joyful, and

this I do daily. I choose to believe that my God is good,

and He proves it to me regularly. He is my hope, He is

my joy, and I choose to love myself as I am. I choose

to love myself and love others. I have FSHD, but FSHD

does not have me. Daily I practise the truth that I am

not defined by the state of my physical body. I am who

I choose to be. I am grateful, and it is a good time to

be me!

I kept in communication with Dr Bassem Elhassen

and he kept promising he would make a plan and the

hospital theatre would not charge me and nor would he

charge me for his work. I was hopeful and kept praying

for increase in faith and physical strength as well as

emotional and mental endurance.

In May of 2019 Dr Bassem operated on me in the small

little town of Annecy in France, when he attended a

Shoulder Conference there. I was his “demo model”

at the conference, where 750 surgeons from all over

the world were watching and learning new techniques

for shoulder surgeries. He surgically removed my left

hamstring and joined my right and left scapulae during

the surgery. This was a surgery no surgeon present

at the conference had ever seen before. It was also

at this conference, while on stage in front of the 750

surgeons who were asking Dr Bassem questions, that

I first learned of FSHD. Dr Bassem had asked me in

our earlier communications whether I had ever heard of

FSHD, as he thought I may have this genetic disease. I

obviously had never heard of it and I dismissed it, until

hearing these international surgeons mentioning it as a

possible diagnosis for my condition.

25

PEOPLE

The Wessels family’s FSHD story

By Anneke Wessels

My husband, Gerrit, was diagnosed with FSHD when

he was 17 years old. He was still very active in sport

at that time. He stopped some of his sport then but

was still very active in life and played golf and cricket.

We got married in 2002 and I fell pregnant in 2005.

The gynaecologist suggested that we visit a genetic

specialist at Tygerberg Hospital, which we did. Her

feedback was that the child had a 50/50 chance of

inheriting FSHD. Our only framework for knowing how

FSHD “looked” was Gerrit, so we were not scared at

all. Gerrit now has trouble lifting his arms and has back

pain, and his right leg gives away sometimes; but he is

still active and loves hunting and playing golf.

When Leon-Louis was born he was a normal, busy

boy who kept us on our toes. Then three years later

we had another son, Elje. He was also a very active

boy. Neither of them had any signs of FSHD, but that

all changed soon.

Elje’s body changed when he was 5 years old; in a

period of eight months he deteriorated so much that

walking became more and more difficult. In his Grade

1 school year we had to get him a mobility scooter

to help him get around. We planned to move Elje to

another school because it was wheelchair friendly, but

he was not accepted. I then went to see the principal

of Panorama Primary School, Mr Mostert. He said

that they would with pleasure have Elje at the school

and would make plans to help him and move classes

around so that Elje’s would be accessible. I am forever

grateful to the school. They went far beyond what they

had to do. Today Elje uses an electric chair. He also

has the assistance of a care worker who goes to school

with him to help with the basics. He is not able to walk

anymore, but he amazes us every day with his strong

will, positive attitude and sense of humour.

Leon-Louis’s body changed at about 6 years old. His

arms would hang against his body when running, but

he played sport (hockey, tennis and rugby) till he was

11 years old, when it became more difficult for him to

run and keep up with his friends. I remember a very

proud moment when he did athletics for the last time. He

ended last. When he finished he came to me and said:

“Mom, some children come in first place and some last.

I am fine with coming last. I can still run.” I was so proud

of him. He just wanted to be involved in everything.

He finished primary school when he was still able to

walk, although with difficulty. He was adamant that he

would walk. Panorama Primary School accommodated

him by letting him go first from class to class, ahead

of the other pupils. His friends would help him with his

schoolbag. Stairs took him a long time, but he was so

motivated to keep walking.

Leon-Louis then went to DF Malan High School for

Grade 8 last year. He was at the school for three

months before the COVID-19 pandemic hit the world.

He stayed home for most of the year, and all then

26

PEOPLE

changed. His body started to deteriorate, and walking

became more and more difficult and also very painful.

That is when he said that he needed assistance to go to

school. (We had made a deal years ago that he would

tell us when he needed a scooter/chair to help him get

by.) We bought him a mobility scooter, and this month

we had to upgrade to an electric wheelchair.

In October last year we also went to see the principal

and asked if it was possible to start a project to make

the high school wheelchair friendly. The response

was extremely positive; in fact the school already had

something in mind but did not know how to start. We

contributed, the school contributed, and friends and

family helped with planning, building and painting.

Then the project “Wassetrap” was born! It involved

constructing a few ramps, lowering kerbs and even

installing a lift! The target was that Leon-Louis should

be able to get to all his classes. That target was reached

within the first quarter of the year.

Now, with phase 1 completed, we will start planning

the rest, which will involve a few more big ramps and

another lift. We have had wonderful contributions from

friends, family, the alumni of DF Malan and so many

other kind people. The school has also had a few

fundraising projects towards extending the Wassetrap

project.

Our aim as parents is to keep our kids in a mainstream

school. With all the help received from the schools, this

is possible. We will always be very grateful to those

involved at DF Malan. Our situation is not easy and we

are always making plans to make life better for these

two amazing children. They teach us so much about

ourselves each day. We have grown so much as parents

and adults these last few years. It is sometimes difficult

to see the good in our situation. But we persevere and

we have a great support system. We try to do “normal”

activities, like camping. We even have a wheelchair

friendly caravan! We do get disgruntled and agitated,

especially with the public. We find that the best way

to handle this is to laugh about it. But we all have a

responsibility to accept people as they are.

My dream for my family is that my children remain

happy and will find their space in this world. Another

dream is definitely that we will do away with stairs

and build only ramps to make life easier for everyone,

including those who are old and use walkers and all the

wheelchair users.

27

Sandra’s thoughts on…

“take care”

By Sandra Bredell (MSW)

We so often use the saying “take care”, but what does it

actually mean, or maybe more specifically, what do we

mean when we say it to someone? Through observation

during the stressful time of the Covid-19 pandemic, I have

realised how often people say this to others, which has

made me think about it even more.

A definition for this phrase is “Be cautious; keep oneself

safe” (Lexico, ©2021). It seems to be a way in which

people wish others well and actually tell them to take

care of themselves. In other words, you wish that good

things will happen to them. It is also a friendly way of

showing others that you care and that you are honestly

warning them to be safe.

Being aware of businesses struggling, losses on the

economic front, and schools closing for the second

time during this pandemic really brings about a rise

in uncertainty. There is unpredictability with regard

to stabilising the economic growth of businesses,

protecting jobs, being able to pay salaries, staying

healthy, completing a school year or tertiary education

‒ and so the list goes on. There are a lot of uncertainties

if we think about it, and they look even more daunting

when listed. When we start to think about the healthcare

system being overloaded already, and all the people

dealing with trauma and loss, we can feel even more

stressed and overwhelmed. Before we know it, we can

be pushed to our limits, and our mental health can take

strain and be stretched to extremity. With restrictions

such as physical distancing and curfew in place, we need

to be aware of the impact that isolation, loneliness and

potentially overwhelming feelings can have on us. It is

very important that we take account of this now as we

fight the third wave of the pandemic.

Amidst the Covid-19 pandemic we all need someone,

whether a family member, friend or colleague, to reach

out to when our emotional resources are depleted. In

return we can offer the same to them. We do not have to

be in the frontline fighting off the virus but can do our part

where we are. We need to take time to listen to others,

to hear the experiences that they want to share and how

they are coping with the emotional rollercoaster of the

pandemic. In a way we are all grieving, and we all need

to be heard. We can try to avoid the habit of asking “How

are you?” and not really waiting for an honest answer

but being satisfied with “I’m fine”. If we want to really

listen, we must be patient and wait for the other person

to share their real experience, which will indicate the

person’s mental health “temperature”.

In a world full of uncertainties, let us get back our power

over the things we can control. This needs to start with

self-care.

1. Check in with yourself:

• Take your own mental health “temperature”.

• What do you need to do to stay connected with others?

• How are you doing?

• Do you follow a routine, a regular schedule?

• Reflect on your thoughts. What are you thinking?

2. Ask for help when you need it – e.g. from the following:

• Adcock Ingram Depression and Anxiety Helpline. 0800

70 80 90.

• SA Federation for Mental Health HelpDesk. +27 (0)11

781 1852 or https://www.safmh.org/help-desk/.

• South African Depression and Anxiety Group (SADAG)

Mental Health Line. 011 234 4837.

• Social workers at the MDF offices in South Africa.

• Lifeline. 0800 150 150.

28

3. Look for the positive in every day, and say it out loud

or write it down:

• Give credit, where credit is due.

• Share a compliment.

• Express gratitude and appreciation.

There is no fixed rule or definition of self-care, as it is

unique to each person. Self-care is about what you need

in order to be happy and what keeps you going. What

experts do know about self-care is that it enhances your

overall well-being.

We might still have a long way through the Covid-19

pandemic, and being anxious and feeling stressed is quite

understandable, but you can draw on the strengths that

have helped you through other difficult times in your life.

On this note, I want to wish you good health and encourage

you to stay strong by filling up your emotional resources.

“Take care.”

Sources

Johnson, W. and Humble, A. 2020. To take care of others,

start by taking care of yourself. Harvard Business Review.

https://hbr.org/2020/04/to-take-care-of-others-start-bytaking-care-of-yourself.

Lawler, M. 2021. What is self-care and why is it so

important for your health? Everyday Health. https://www.

everydayhealth.com/self-care/.

Lexico. ©2021. Sv “Take care”. https://www.lexico.com/

definition/take¬care.

ReachOut.com. 2021. How to deal with uncertainty during

coronavirus. https://au.reachout.com/articles/how-todeal-with-uncertainty-during-coronavirus.

29

JOURNEY FOR A FRIEND

Union's End, located at 24°46'10.3"S 19°59'57.8"E,

is not a camp or a town. It is the extreme northwesterly

point in South Africa and the northernmost

point of the Northern Cape. It is located in the

Kgalagadi Transfrontier Park, at the point where

the borders of South Africa, Namibia and Botswana

intersect. This historical point is marked by a small

information board, a pole bearing the longitude

and latitude of the spot and nothing much else.

It is quite literally the end of the line as the sandy

"tweespoor" road comes to a dusty stop in a small

patch of gravel under an enormous African sky.

To your left the Namibian border fence runs off

into the distance and over the horizon. To your

right is a more rudimentary Botswanan "No

Trespassing" sign, well faded from many years of

baking summertime temperatures well over 40°C.

The nearest meaningful town, Upington, is 550

km south, and if you look east there is arguably

not another living soul for another 600 km.

Technically you can place your left hand inside

Namibia, your right hand inside Botswana, and

have your feet planted in South Africa. That is if

you have scanned the surrounding long grass for

lion beforehand!

We first visited the Kgalagadi in 2019, and our

travelling companions, Neill and Ursula, in their

4x4, escorted us, in our not-so-4x4, north

on the difficult road from Nossob camp. Neill

was our "travelling buddy", a friend who always

encouraged us to extend our horizons, with the

assurance that he would be there to help us if we

became stranded. In this case the wet conditions

following days of thunderstorms proved to be too

treacherous and we had to abort the journey. Ever

since then Neill had wanted to get me and my

wheelchair to Union's End to experience its unique

remoteness. We tried again in 2020 but were once

again thwarted in our efforts by a journey that

would have required nearly 12 hours seated in

the car. It was too much for me and we had to

turn back at the appropriately named Lijersdraai.

It made the lure of Union's End grow even greater.

Then along came COVID-19 and with it Neill's

tragic death from the virus. It was a passing which

shocked and saddened us all to our very core, as

just months earlier we had been discussing so

many travel and exploration plans for the future.

We planned another journey to the Kgalagadi

for March 2021, and this time Union's End was

calling loud! We decided that the only way to reach

this northernmost point was to stop over in the

equally remote wilderness camp of Grootkolk. It

is a collection of just four safari tents, unfenced,

with no electricity or drinking water, but incredibly

one of the tents is wheelchair accessible. Our one

concern was the condition of the roads, which can

vary from day to day. We were not even sure if we

could reach Grootkolk. The adventure of 2019 had

shown us how the roads could become completely

flooded overnight, and friends of ours who had

travelled the route just a few weeks earlier had

become trapped in the soft, dry sand.

30

The extremes were extreme!

Fortunately the travel gods looked kindly upon us

and we were able to enjoy a brilliantly smooth and

uneventful ride all the way to Grootkolk through

a landscape transformed by earlier January rains.

The veld was covered in lush, long, green grass for

endless kilometres, resembling the rolling plains

of central Africa. It was a sight which one might

witness only once in a lifetime as this is, after all,

considered an arid, desert region.

The following day dawned bright and clear, with

two lions walking into the camp waterhole as we

prepared the morning coffee. It was a short 26

km drive to Union's End, and we were the only

vehicle on the road north, adding to the sense

of remoteness. Our arrival at Union's End was

witnessed by a curious pale chanting goshawk

and some rather preoccupied ground squirrels.

The temptation was there for me to exit our

vehicle and take some photographs sitting in the

wheelchair, but having seen lions in the area we

decided that discretion was the better part of

valour. The visitors book, a standard A4 school

textbook, showed signatures dating back to 2017,

with plenty of room for future entries. Not many

pages considering that it spanned a four-year

period. It is not a part of the world many people

have the chance to visit.

Union's End was everything we hoped it would

be. The travelling stars aligned, we were able to

secure accessible accommodation in Grootkolk,

the thunderstorms held off, the roads were in

wonderful condition and the scenery was endless.

All we had to do was follow our noses until the

road ran out. Neill's desire to get us there was

certainly justified as it is an extraordinary part

of the world and without doubt the most remote

destination I have ever reached. It was a journey

we needed to do.

Neill, my china, we would like to think that you

were with us on the drive up to Union's End. We

hope you enjoyed the ride!

31

KIDDIES CORNER

Out of waste DIY: Wondering how to make the best out of waste from newspaper? Here’s one for

you. Help your children create a piggy bank from an old waste bottle to teach them the value of

both saving and reusing.

Bottle Money Bank Idea

What waste you need:

• Plastic bottle

By Palak Kapadia

Published online by SHEROES

• Piece of paper (Be creative with your newspaper

choice)

• Felt pens

• Glue

What to do out of these:

1. Clean and dry the bottle.

2. On the side of the bottle, cut a slot big enough to

send a coin through.

3. Seal the edges with glued paper or tape to prevent

any tearing.

4. Cover the rest of the bottle with the paper and paint

it or make patterns.

5. You can even go all out and make it look like a pig

with just same basic paper sticking.

6. Your money bank is ready!

Source:

Kapadia, Palak. 2020. 27 best out of waste for creative kid’s project. #14. July 7. https://sheroes.com/

articles/best-out-of-waste-ideas/NjkzNw==

32

Doctor’s Column

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 gmnational@

mdsa.org.za

If two siblings have muscular dystrophy,

will the progression and symptoms be

the same?

There are many different forms or subtypes of muscular dystrophy. These may present in diverse ways and at

different ages and with markedly different severities. If two siblings have muscular dystrophy, it is very likely

that they have the same genetic form of muscular dystrophy. Thus, they would be expected to have broadly

similar disease in terms of the distribution of muscle weakness and other clinical features. In some conditions,

siblings are likely to present in a more or less similar fashion and at similar ages. However, other conditions

vary widely in their presentation, even between siblings. Clinicians who are familiar with the different types

of muscular dystrophy should be able to answer this question more specifically in a family once a diagnosis

is known.

As an affected adult, are there ways to have children

who are not affected?

Yes, there are many options. It would be important for an affected adult to consult with a medical geneticist

or genetic counsellor to facilitate the most appropriate decision for a particular couple. This would depend

on the specific genetic information but also the couple’s personal preferences around the most appropriate

decision for them.

Importantly, the first step would be to confirm a specific diagnosis in the affected individual. This may require

a detailed neuromuscular assessment and investigations, possibly including genetic testing. Once a specific

diagnosis is determined, the pattern of inheritance of the condition can be determined. The risk of having an

affected child may vary from extremely low (close to 0%) if the affected adult has a rare autosomal recessive

condition to 100% if the affected individual is female and has a mitochondrial myopathy. For affected individuals

with an autosomal dominant condition, the risk of recurrence is 50%. In X-linked conditions, a male will have

unaffected children, whereas a female carrier has a 50% chance of her boys being affected. In the situation

where there is a risk of children being affected, various reproductive options are available to ensure that the

individual has unaffected children. It is important that the genetic risk be determined as accurately as possible,

so that further information has a sound basis rather than being an unscientific estimate.

Broadly the two groups of options include those where the risk is reduced by testing a pregnancy or by

avoiding a biological contribution from the affected parent.

A pregnancy can be tested once a genetic diagnosis is confirmed in the affected individual. This generally

requires an invasive test to obtain genetic material from the foetus (either chorionic villus sampling at

approximately 11‒12 weeks or amniocentesis at 16‒18 weeks’ gestation). In addition, preimplantation genetic

testing is also now available. In this case, the couple would need to go through in vitro fertilisation, so that

embryos are available for testing in the laboratory. Once the embryos are tested, those that are shown to be

unaffected with the genetic disease in the affected parent can be implanted to achieve a pregnancy.

Alternatively, a donor egg can be used if the female partner is the one affected with muscular dystrophy,

or donor sperm can be used if the male partner is affected. This would mean that the child could have a

contribution from the unaffected parent but no biological contribution from the second affected parent.

Each couple has unique circumstances, both biological and psychosocial, which impact on their decision

making. Thus, it is important that all options available to a specific couple be thoroughly discussed so that

they can make the most appropriate decision for them.

33

Random gravity

checks

By Andrew Marshall

Howzit guys

In the last issue or the one before that (I have the

memory of a potato) I spoke about how I think purpose

and meaning in our lives are really important. And about

how writing my memoir gave me a reason to get up in

the mornings and made me feel I was helping people in

similar positions by telling my story and describing some

of the mistakes I’ve made. I told you about the project a

few of my friends and I were working on, how we were

trying to get tablets and computers into the hands of

other disabled folks. Because I believe technology is

like a window into the outside world for a lot of people. I

also told you that the project had to be put on the back

burner because of Covid-19, and how massively this

impacted my sense of purpose and meaning.

In summary, the uncertainty of the pandemic has made

me do a lot of thinking about my value and my individual

place on this crazy rock hurtling through space.

I think the main thing I have recognised (which I touched

on when I wrote about George Floyd’s murder a while

back) is that we don’t know the power of our actions

when we are simply living our day-to-day lives.

Maybe someone totally able bodied sees you chilling

in your wheelchair or battling with your crutches, or

whatever, and maybe that experience changes the way

they look at life. You my friend are changing the world

right there!

This is one of the reasons why I try and get out of my

comfort zone and interact with people from all over the

world, disabled and non-disabled. So they can impact

me, and I can impact them. For example, I’ve gone to an

online event called The Human Library that isn’t targeted

at us wheelie Bobs, and I’ve met a lot incredible people.

Google them. They’re really cool. I’m thinking about

becoming a human book one of these days.

Then some friends of mine have a company here in SA

selling wheelchair bags and other wheelchair stuff (https://

www.facebook.com/Smergos/). They also run weekly

Zoom meetings where they have a guest speaker talking

about everything disability related. In a few weeks’ time

I will be presenting on – you guessed it – purpose and

meaning, and in doing so filling my cup with the same.

How did I ever survive without Zoom?

I’ve tried to make a point of putting myself more in other

people’s line of vision. I don’t mean going out there and

being susceptible to dodgy germs, but making sure I

contact people. Some I haven’t been in touch with for

ages, but I contact new people too.

Just sharing a few words and saying howzit has much

more power than you might think. I usually use Facebook

to connect with people and share a few of my views and

thoughts, but even if you are not on social media, why

not SMS your old friends, your Aunty, or whoever? Say

a few kind words. Share a fact they may not have known.

Laugh a little. You don’t know (and probably never will)

what this might mean to them.

A friend who runs a business with her husband up in

Botswana told me a story the other day that sort of

encapsulates what I’m trying to say. They employed a

new night security guard, and my friend hadn’t met him

yet. The guard wrote down the licence plate number of

a dodgy car that had been cruising the neighbourhood

at 2 am and may have been linked to criminal activity.

He also called his security company to investigate. My

friend baked him some cookies and brought him a Coke

(and I think a few extra bucks) just to say thank you for

being vigilant. She left them on the security desk before

his shift.

Later, my friend saw some movement on the security

camera. It was the guard. First he just stood and stared

at his thank-you snack with his hand to his mouth. Then

there were tears rolling down his face. He kept on

rereading the thank-you note, over and over again. What

was a small act of kindness for my friend was massively

meaningful to him.

The reason I’m telling you guys this is because you don’t

know if your text to your Aunty - or whoever - might mean

just as much as my friend’s cookies did to this man. Just

by being you. Just by being alive and interacting with

people, you can easily change someone’s perspective

on life.

34

I also wanted to chat to you about something really

important to me. My mother, being the incredible lady

she is, spoke to anyone who would listen to her when

she was called for her vaccination. Although Saul (my

helper) and I were already registered, I did not fit the

over 60s criteria. But because of my co-morbidity my

mother would not take no for an answer. She went right

to the top of the administering facility, who then agreed

to allow me to have the jab when she said she would

forgo her shot so I could have one. But because Mom

is over 70, we all got lucky!

This experience prompted me to start an online petition

for people with co-morbidities to get the jab. I intend to

present it to the health. I would very much appreciate

it if you would have a look at it and sign. Copy the link

below into your web browser if you’re interested, and

thanks for listening!

https://www.change.org/p/any-persons-with-one-or-more-comorbidity-and-there-friendsand-family-our-lives-are-important-too?recruiter=1212344811&utm_source=share_

petition&utm_campaign=share_for_starters_page&utm_medium=whatsapp&utm_

content=washarecopy_29513947_en-GB%3A7&recruited_by_id=929ae370-d354-11eb-bbac-

4fa5e0010523

35

RESEARCH

PROMISING RESEARCH

RESULTS POINT TO POTENTIAL

CURES FOR TWO MOST

COMMON FORMS OF CMT

BY KEITH FARGO

CHIEF SCIENTIFIC OFFICER, CMT RESEARCH FOUNDATION

attached the siRNA molecules to

nanoparticles formed from a naturally

occurring lipid called squalene.

These nanoparticles were

able to carry the siRNA molecules

to the peripheral nerves and deliver

them to Schwann cells. The treatment

caused a desired reduction

in PMP22 RNA and protein levels.

Promisingly, this resulted in regrowth

and remyelination of axons, and

the mice regained normal strength,

balance, and nerve function.

Momentum is building in the development

of gene therapies for Charcot-

Marie-Tooth disease. Landmark

back-to-back research publications

offer innovative approaches

to potentially curing the two most

common forms of CMT.

What was published?

Two research studies were published

in biomedical journals in

March 2021, each describing innovative

approaches to gene therapy

in CMT.

1. Promising Results for CMT1A

A French research group from

Inserm, a public scientific and technological

institute in France, published

results of a genetic treatment

on two mouse models of

CMT1A. A duplication of the PMP22

gene causes CMT1A. But instead

of editing the gene’s DNA, the

researchers took advantage of a naturally

occurring process called RNA

interference. This approach allowed

them to target PMP22 messenger

RNA for destruction, reducing the

amount of PMP22 RNA ‒ and therefore,

PMP22 protein ‒ produced by

the gene duplication. In this experiment,

the researchers activated the

RNA interference process specifically

in Schwann cells ‒ the cells

responsible for forming peripheral

nerve myelin. The researchers

injected the animals with genetic

material called small interfering RNA

(siRNA) to activate the RNA interference

machinery.

As with many potential CMT therapies,

getting the siRNA to the

correct cells is a significant obstacle.

When the researchers first treated

the CMT1A model mice with plain

siRNA, nothing happened. To overcome

this hurdle, the researchers

Funding for this project was provided

by the French National Research

Agency (ANR).

2. Advancing Gene Therapy for

CMT1X

The day after the above paper was

published, an international research

team with members in Cyprus, the

United Kingdom and Sweden published

their findings on using gene

therapy to treat mice with CMT1X.

CMT1X is caused primarily by mutations

of the GJB1 gene that lead to

the loss of functional connexin 32

protein (Cx32). To correct this, the

researchers packaged a “normal”

GJB1 gene into a viral vector (AAV9)

capable of delivering its payload to

cells in the body. Then, they considered

how to ensure the genetic

therapy works in Schwann cells,

where the GJB1 mutations are

thought to cause CMT1X. To do this,

36

RESEARCH

the researchers cleverly packaged

another portion of genetic material

called a “promoter” into the AAV9

vector along with the GJB1 gene.

When a gene is under the control

of a promoter, it will be expressed

when (or where) the promoter is activated.

Because the researchers in

this study used the MPZ promoter,

the “normal” GJB1 was turned into

Cx32 protein specifically in Schwann

cells. First, the researchers tried the

treatment in young mice that had not

yet developed symptoms. Over time,

untreated mice developed disease

symptoms, but those treated with

the gene therapy did not. Next,

the researchers tried treating older

animals that had already developed

disease symptoms. Remarkably,

even after just a single treatment,

the mice improved in every measure,

including strength and nerve structure

and function.

Principal funding for this project

was provided jointly by the Charcot-

Marie-Tooth Association (CMTA) and

the Muscular Dystrophy Association

(MDA).

When can patients expect to benefit

from these treatments?

While these papers are very exciting

to the research community, it is

important to remember that these

studies were performed in mice.

Even the most promising studies in

mice must be confirmed with additional

research, usually including

research in another animal model,

before being considered for human

clinical trials. Because of this, these

potential therapies need further

development before they are ready

for use by CMT patients. However,

these studies provide critical proof of

concept that we can solve the delivery

challenges associated with CMT.

It is not a matter of if but of when.

Article available at: https://cmtrf.

org/momentous-march-for-cmtresearch/

37

RESEARCH

STUDY MAY LEAD TO NEW THERAPIES

FOR PATIENTS SUFFERING FROM

DUCHENNE MUSCULAR DYSTROPHY

BY NEWS MEDICAL LIFE SCIENCES

REVIEWED BY EMILY HENDERSON, 15 APRIL 2021

can better understand how chronic

inflammation promotes muscle fibrosis

and, more importantly, we can

facilitate development of novel therapies

for DMD," said senior author

Armando Villalta, PhD, assistant

professor in UCI's Department of

Physiology & Biophysics.

A new study, led by the University

of California, Irvine (UCI), reveals

how chronic inflammation promotes

muscle fibrosis, which could inform

the development of new therapies

for patients suffering from Duchenne

muscular dystrophy (DMD), a fatal

muscle disease.

Titled, "A Stromal Progenitor and ILC2

Niche Promotes Muscle Eosinophilia

and Fibrosis-Associated Gene

Expression," the study was published

today in Cell Reports. Chronic

inflammation is a major pathological

process contributing to the progression

and severity of several degenerative

disorders, including Duchenne

muscular dystrophy (DMD). Studies

directed at establishing a causal link

between muscular dystrophy and

muscle inflammation have revealed a

complex dysregulation of the immune

response to muscle damage.

During muscular dystrophy, chronic

activation of innate immunity causes

scarring of skeletal muscle, or fibrosis,

compromising motor function.

How immunity is linked to the molecular

and cellular regulation of muscle

fibrosis was not well defined, until

now.

“In our study we found the interaction

between two types of cells--a novel

stromal progenitor, which is similar to

a stem cell, and group 2 innate lymphoid

cells (ILC2), which are a type

of immune cell that reside in skeletal

muscle--promotes the invasion of

white blood cells in muscle. This condition

is associated with the elevation

of genes that promote muscle tissue

scarring found in DMD."

Jenna Kastenschmidt, PhD, Study

Lead Author and Assistant Specialist,

Department of Physiology &

Biophysics, UCI School of Medicine

The new study not only reveals the

interaction of cells contributing to

DMD, but it illuminates how muscle

eosinophilia is regulated. Eosinophils

are white blood cells that infiltrate

dystrophic muscle causing fibrosis.

In this study, researchers found that

eosinophils were elevated in DMD

muscle compared to control patients.

In addition, researchers found the

deletion of ILC2s in dystrophic mice

mitigated muscle eosinophilia, reducing

the expression of genes associated

with muscle fibrosis. These findings

contribute to the understanding

of the complex regulation of muscle

inflammation and fibrosis during

muscular dystrophy.

"By further defining the interaction

between skeletal muscle-resident

immune and stromal cells, we

Ongoing work from Villalta's lab continues

to focus on how distinct facets

of the immune system regulate DMD

pathogenesis and how these processes

influence the efficacy and

long-term stability of gene replacement

therapy.

Article available at: https://www.

news-medical.net/news/20210415/

Study-may-lead-to-new-therapies-

for-patients-suffering-from-

Duchenne-muscular-dystrophy.aspx

38

RESEARCH

CORTICOSTEROIDS AID MUSCLE MASS

IN BMD AND LGMD, TRIALS NEEDED

BY MARISA WEXLER

IN MUSCULAR DYSTROPHY NEWS TODAY

Once-weekly corticosteroid treatment

was safe and well-tolerated in

people with Becker muscular dystrophy

(BMD) or limb-girdle muscular

dystrophy (LGMD) in a small clinical

trial, and early evidence suggests

that corticosteroids can improve

muscle mass and muscle function in

these patients.

These findings warrant further trials

to assess corticosteroid’s potential

benefits in treating BMD and LGMD,

according to its researchers.

Data were presented in the poster,

“24-week open label clinical trial to

test safety and efficacy of oral weekly

prednisone in adults with Becker

(BMD) and Limb-Girdle Muscular

Dystrophy (LGMD),” at the 2021

American Academy of Neurology

annual meeting.

Corticosteroids (sometimes referred

to as “steroids”) are a class of medication

that decrease inflammation

and closely resemble cortisol, a

hormone produced by the adrenal

glands. Corticosteroid treatment is

common for people with Duchenne

muscular dystrophy, and it has been

shown to improve walking ability and

survival.

Researchers at Northwestern

University conducted a small,

24-week Phase 2 clinical trial

(NCT04054375) to examine the

safety and tolerability of once-weekly

corticosteroid use in people with

BMD or LGMD.

A total of 20 patients completed

the trial: one with BMD and 19 with

LGMD. Participants ranged from 18

to 63 years old; about two-thirds were

male. Six were able to walk.

Patients were given a corticosteroid

called prednisone at doses of 0.75

mg/kg or 1 mg/kg depending on body

weight, taken after the last meal

every Monday for about six months.

Before and after treatment, they

underwent a battery of laboratory

and imaging tests. For most of these

assessments, values did not significantly

differ between the trial’s start

and end. The researchers highlighted

that these findings indicate that treatment

did not cause any noteworthy

problems in areas such as weight,

metabolism, blood pressure, and

breathing ability.

Corticosteroid use, however, led to

an increase in lean muscle mass, as

well as a decrease in levels of creatine

kinase, which is a marker of

muscle damage.

Among the six patients able to walk,

a trend toward a better walking ability

was seen.

Corticosteroid treatment was generally

safe and well-tolerated. The

most common events were increased

anxiety on Monday nights and facial

acne. No serious adverse events

were reported, and no one discontinued

treatment due to side effects. All

but one of these 20 patients elected

to continue taking weekly corticosteroids

after finishing the study.

“Additional multicenter randomized

clinical trials are needed to better

understand how weekly steroids

may benefit patients with BMD and

LGMD,” the researchers concluded.

Article available at: https://musculardystrophynews.com/2021/04/21/

aanam-corticosteroids-aid-muscle-mass-in-bmd-and-lgmd-trialsneeded/

39

Healthy Living

DENTAL

CONSIDERATIONS

BY PARENT PROJECT MUSCULAR DYSTROPHY

Duchenne affects orofacial muscles (muscles of the

face and the mouth) and influences orofacial function

(chewing, swallowing, etc.). There is a high prevalence

of malocclusion (the incorrect relationship between

the teeth of the upper and lower dental arches as they

approach each other when the jaw closes). An increased

expansion of the lower dental arch, compared to the

upper dental arch, may result in open bites (the lower

and upper teeth not coming in contact with each other

when the teeth/jaws close) and crossbites (the lower

and upper teeth coming in contact incorrectly and ineffectively).

This results in a significantly weak bite force.

As you get older, weakness in the orofacial muscles may

affect orofacial function leading to difficulty chewing and

swallowing.

CHANGES IN STRUCTURE

The orofacial skeleton is the structure of the face and

mouth, which includes the position of the teeth and shape

of the dental arches. Habits, such as thumb sucking

and breathing with an open mouth, as well as orofacial

muscle strength and function play a role in the development

(shape) of the orofacial skeleton.

Tongue Changes

In Duchenne, the tongue may enlarge with age while

the strength and function of tongue weakens. As the

tongue enlarges and becomes weaker, it may have difficulty

maintaining the movement and pressure required

for chewing, swallowing and speech. An enlarged tongue

can also contribute to worsening dental malocclusion,

changing the appearance of the face and causing more

difficulties with chewing. Keeping the tongue in, and

avoiding “mouth breathing” may help to minimize this

change.

CHANGES IN FUNCTION

As you get older, your tongue muscle, muscles in and

around your mouth, and the muscles used for swallowing

become progressively weaker, causing eating to be

a slower and more difficult process.

Alterations in Chewing and Swallowing

If you are found to have malocculusion [sic] of the teeth,

you may have issues chewing your food completely,

making it more difficult to swallow. […] inefficient chewing

along with weakened swallowing muscles may lead to

an accumulation of unswallowed “residue” in the throat.

This accumulation causes a feeling of choking or of food

“stuck in the throat.” This residue sitting in the throat may

be aspirated into the lungs, increasing the risk of aspiration

pneumonia. Minimizing solid food during meals (thinning

foods or following meals with at least 3 swallows of

water) may help to decrease the residue left in the throat.

40

Healthy Living

of the teeth. Areas between the tongue and cheek also

need to be included (with a weaker muscles [sic], there

is less “natural cleaning” of this area). For this reason it

is also important to rinse the mouth with water after every

meal to remove any unswallowed residue.

ORTHODONTIA

Given the oropharyngeal changes inherent in this diagnosis,

orthodontic treatments should not be initiated by

anyone without a thorough understanding of Duchenne.

Speak to your primary care provider or neuromuscular

team about orthodontic recommendations.

In addition, preventive removal of wisdom teeth may not

be appropriate for all. This procedure should be evaluated

from an individual benefit-risk perspective, including

the risk of anesthesia, aspiration, and of osteonecrosis

(severe bone disease) of the jaw caused by molar extraction

when patients are also taking bisphosphonates.

DENTAL PROCEDURES

When a person with Duchenne undergoes general anesthesia,

they are at risk for a number of serious problems.

Chewing Interventions

The progressive weakening of the chewing muscles may

be slowed down with exercise. Encouraging exercises,

such as chewing sugar free chewing gum, may help to

keep the muscles needed for chewing stronger.

Swallowing Interventions

Difficulty swallowing is called dysphagia. […]

DENTAL HYGIENE

Poor dental hygiene can lead to issues with tooth decay

and gum disease. Dental hygiene can be an issue if the

jaw is difficult to open and the tongue is difficult to move

out of the way. Abnormal dental findings often include

high levels of decay, heavy plaque especially around the

lower teeth, unhealthy gums, and poor dentition.

Children should begin seeking dental care very early.

Maintaining a healthy diet, practicing daily oral hygiene

(brushing and flossing), fluoride prophylaxis, using sealants

appropriately and seeing a dentist every 6 months

are extremely important.

As people living with Duchenne get older, reduced

upper limb function makes oral hygiene more difficult.

Parents/caregivers will need to be shown how to effectively

brush the teeth of another. This may include how

to move the tongue away to get access to all surfaces

Dental Procedure Recommendations

Dental hygiene and proper care are extremely important

and help to reduce the incidence of oral and respiratory

infections, specifically pneumonia. Dentistry generally

can and should be performed with minimal or no

anesthesia to provide the patient with maximal physical

and emotional comfort. Local anesthetics (i.e. novocaine,

lidocaine) or inhaled nitrous oxide (“laughing gas”)

are both generally safe to use in people with Duchenne

regardless of their pulmonary function or ambulation.

Any oxygen use should be cautioned in people with

Duchenne who are non-ambulatory and/or have abnormal

pulmonary function.

Nitrous Oxide

The use of inhaled anesthetics (i.e. Halothane, Isoflurane,

Seroflurane) can result in serious complications. One

complication is rhabdomyolysis, which is the massive

breakdown of skeletal muscle tissue which can ultimately

damage the kidneys. Another is hyperkalemia, which is

the release of too much potassium into the bloodstream

which can result in cardiac arrest (“heart attack”).

Nitrous oxide (“laughing gas”), used during office dental

procedures by an observant dentist, is an accepted and

safe practice, even though it is inhaled. Nitrous oxide is

a commonly used inhaled anesthetic in dentistry, emergency,

and ambulatory centers. Advantages of nitrous

oxide include:

• Impressive safety profile

• Provides excellent minimal and moderate sedation for

anxious patients

• Quickly and easily absorbed into the bloodstream and

the brain, as well as easily eliminated from the body

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Healthy Living

Following nitrous oxide, patients are generally given

oxygen for 1-2 minutes in order to “wash out” the gas

from the respiratory system. The oxygen is administered

in an “open system” (mixed with room air), so

the oxygen concentration is not 100%. The use of an

“oxygen washout” is also a safe and appropriate practice

for people with Duchenne.

Local Anesthetics

In many dental procedures, local anesthetics are often

given via injection. Commonly used anesthetics include

Novocaine or Lidocaine. Local anesthetics are considered

safe for use in Duchenne.

Oxygen use

Many parents are concerned with the use of oxygen is

mentioned [sic]. The use of oxygen in an ambulatory

patient with normal lung function poses minimal threat.

The use of oxygen by itself is a concern when its intended

use is to treat hypoventilation in a non-ambulatory patient

with decreased pulmonary function.

Patients with Duchenne who have pulmonary dysfunction

(abnormal breathing) should consider receiving dental

care requiring general anesthesia in a hospital or surgery

center staffed with an anesthesiologist, and equipped

to monitor intra-operative respiratory functioning and to

manage potential respiratory and cardiac emergencies.

Non-ambulatory patients with Duchenne have weaker

respiratory muscles. Therefore, as the disease progresses,

it becomes difficult to cough and to take deep

breaths. Up to a point, shallow breathing can provide

the body with adequate oxygen supply and adequate

removal of carbon dioxide. That delicate balance of

oxygen and carbon dioxide allows breathing to continue.

When extra or supplemental oxygen is given, this delicate

balance is disturbed. The respiratory center may get

the false impression that the body has enough oxygen,

and the drive to breathe diminishes. Without effective

breathing, carbon dioxide can build to dangerous levels

(called hypercapnia).

Oxygen should never be given without constantly monitoring

the level of carbon dioxide CO2 in the expired

breath (the “end-tidal CO2”) or the CO2 level in blood. A

normal end tidal CO2 is between 30-45 mmHg. A CO2

level greater than 45 mmHg indicates that CO2 is not

being expelled from the body. Non-invasive ventilation

(Bi-PAP via mouthpiece or nasal cannula) will assist with

the mechanical process of breathing, delivery of oxygen

and removal of CO2.

DENTAL PROCEDURE FACTS TO REMEMBER

• Dentistry generally can, and should, be performed

with the minimal amount of anesthesia possible while

providing the patient maximal physical and emotional

comfort.

• Local anesthetics, nitrous oxide, and an oxygen “wash

out” are safe for most patients with Duchenne, especially

patients who are ambulatory with normal pulmonary

function (normal breathing).

• Patients with Duchenne who have pulmonary dysfunction

(abnormal breathing) should consider receiving

dental care requiring general anesthesia in a hospital

or surgery center staffed with an anesthesiologist, and

equipped to monitor intra-operative respiratory functioning

and to manage potential respiratory and cardiac

emergencies.

References

1. Becker DE, Rosenberg M, “Nitrous Oxide and

the Inhalations Anesthetics,” Anesth Prog, 2008, winter,

55(4): 124-131.

2. “Respiratory Care of the Patient with Duchenne

Muscular Dystrophy,” American Thoracic Society

Document, Am J Respir Crit Care Med, 2004, 170:

456-465.

3. Birnkrant D, Panitch HB, Benditt JO, Boitano

LJ, Carter ER, Cwik VA, Finder JD, Iannaccone ST,

Jacobson LE, Kohn GL, Motoyama EK, Moxley RT,

Schroth MK, Sharma GD and Sussman MD, “American

College of Chest Physicians Consensus Statement on

the Respiratory and Related Management of Patients with

Duchenne Muscular Dystrophy Undergoing Anesthesia

or Sedation,” Chest, 2007, 132:1977-1986.

Article available at: https://www.parentprojectmd.org/

care/care-guidelines/by-area/dental-considerations/

42

Healthy Living

ELECTRONIC VACCINATION

DATA SYSTEM (EVDS) SELF

REGISTRATION PORTAL

BY SOUTH AFRICAN GOVERNMENT

Who must register?

• All healthcare workers (public and private) who intend

to be vaccinated in Phase I

• From 16 April citizens aged 60 years and older

• From 1 July citizens aged 50 years and older

The above should enrol on the Electronic Vaccination

Data System (EVDS) on http://vaccine.enroll.health.

gov.za/.

Please direct questions to the Support e-mail: evds.hcwselfregistration@health.gov.za

(link sends e-mail).

What will the information be used for?

Information submitted during registration will be used to:

• identify eligible vaccination beneficiaries

• plan supply of vaccines and ancillary items

• allocate beneficiaries to their nearest available service

point

• communicate with enrolled individuals about the vaccination

program, including but not limited to:

o eligibility

o where they will be vaccinated

o follow-up vaccination appointments.

What do you need to register?

1. Access to the internet on any device (cellphone, laptop,

tablet, desktop, etc).

2. Your ID number or passport (non-RSA), general

contact information (your cellphone number will be

used as the primary mode of communication).

3. Information about your employment (primary employer

and location of work).

4. Where relevant, your professional registration details

and medical aid are also requested.

5. With all information at hand registration should take

approximately 2–3 minutes (three steps).

Article available at: https://www.gov.za/covid-19/vaccine/

evds

43

Healthy Living

CARE CONSIDERATIONS

FOR CARRIERS

BY PARENT PROJECT MUSCULAR DYSTROPHY

All carriers should be evaluated by a healthcare provider

familiar with Duchenne.

SKELETAL MUSCLES

Most carrier females (about 80-90%) have no problems

with their skeletal muscles. Some have mild muscle

weakness, fatigue (a tired feeling), pain or cramping

in their muscles. Rarely, a carrier has symptoms that

are as severe as those of a male with muscular dystrophy.

These issues should be addressed by specialists

in these areas (ie, neuromuscular specialists (neurology

or physical medicine and rehabilitation (PM&R),

physical therapy, etc.) and followed regularly. They may

suggest stretches, exercises, and/or medication for pain

that may be helpful.

CARDIAC FUNCTION

Carrier females have an increased chance of changes

to heart function. It is not yet known how common heart

changes are, but some studies have estimated that

10-50% of carriers have heart changes. The large majority

of carriers will never need heart treatment or have

health effects.

Females [sic] carriers are usually not affected with

Duchenne or Becker because they make enough of the

dystrophin protein. However, they can have some symptoms

of Duchenne, such as changes to heart function,

mild muscle weakness, fatigue (a tired feeling), or cramping

in their muscles. Rarely, a carrier has symptoms that

are as severe as those of a male with muscular dystrophy.

The term “manifesting carrier” is often used to

describe a woman who has some of the symptoms seen

in males who have Duchenne.

In addition, symptoms can be seen in young girls who

are carriers of Duchenne. Although rare, it is important

to be aware of this risk, and bring any concerns about

muscle weakness, impaired balance or frequent falls,

muscle fatigue, and cognitive or behavioral issues to your

doctor. This is especially important if there is a known

family history of Duchenne. […]

Because a small percentage of carriers may have serious

heart concerns, however, it is important for all women

who are carriers and women who are at risk to be carriers

(for example, women with a son or brother with

Duchenne) to have regular heart evaluations, beginning

in their late teens/early adult years and, if normal,

repeated every 3-5 years.

Women who know that they are carriers, or women who

suspect that they might be carriers, should discuss heart

screening with their doctors. The best screening plan is

not yet known, so different healthcare providers might

make different recommendations. Findings from a recent

study suggest that beginning cardiac MRI in the third

decade of life to evaluate for the presence of underlying

cardiac disease should be considered. If there are

any problems or potential problems found, the carrier

may be referred to a cardiologist. If cardiac issues are

found, they should be treated by a cardiologist who is

familiar with heart failure and, if possible, knowledgeable

about Duchenne.

44

Healthy Living

REPRODUCTIVE CARE

It is important for carriers and potential carriers to have

the best and most accurate information in order to make

informed decisions about future pregnancies. Women

have several reproductive choices to consider including

pre-implantation genetic testing or prenatal genetic

testing during pregnancy. These decisions are very complicated

and personal and there is no “right answer.”

Please speak with a genetic counselor if you are a carrier

or if you have a child with Duchenne or Becker. A genetic

counselor can review the benefits and risks for each of

these procedures and discuss all of your options so you

can make the best decision for you and your family. […]

PSYCHOLOGICAL CARE

Learning that one is a carrier can cause strong emotions.

It is not uncommon for women to feel sad, worried, or

guilty after learning that they are carriers. Although no

one is in charge of which genes they pass on to their

children, many women wish that they could control their

genes or take back the illness.

Carriers considering having children (or more children)

may be afraid of the possibility of having an affected son

(or another affected son). Sometimes the fears change

their plans about having children. Some women choose

to have prenatal genetic testing during pregnancy. Other

women choose to have children no matter what. These

decisions are very complicated and personal, and there

is no “right” answer.

Manifesting carriers may have additional feelings related

to the uncertainty around their own health. It is difficult to

predict if the symptoms in a woman who is a manifesting

carrier may get worse, and if so, at what rate. It can be

especially challenging for manifesting carriers who are

trying to take care of an affected son while dealing with

their own symptoms.

Strong feelings related to being a carrier do not happen

only in families with Duchenne or Becker; they may be

found along with any genetic condition. Speaking to a

healthcare provider, especially a genetic counselor or

psychological counselor, or other mothers in similar situations

about these feelings may be helpful.

SYMPTOMS IN CARRIERS

When thinking about symptoms in carriers, there are

three different groups to consider:

Carriers With No Symptoms

Most carriers fall into this category. About 80-90% of carriers

have no muscle symptoms. Such carriers usually do

not know that they are carriers unless a family member is

diagnosed with Duchenne and they have genetic carrier

testing.

Manifesting Carriers

Manifesting carriers have skeletal muscle, joint, or heart

symptoms caused by the mutation in the dystrophin gene.

Germline Mosaic Carriers

Women with germline mosaicism most likely have no

increased chance for skeletal muscle symptoms or heart

changes related to Duchenne. […]

Article available at: https://www.parentprojectmd.org/

care/for-carriers/carrier-symptoms/

A Rollz rollator and wheelchair

For more information visit www.rollz.com

or email info@rollz.com.

The Rollz Motion is known for combining two products in one. It is both a rollator and a transport chair, which is a

unique combination. Thanks to this duo product users do not have to decide which one to take along, as they can

take both with them and transform it when needed. This innovative product encourages individuals who require a

mobility device to go out and travel because they love the way it opens their world again. So they are able to walk as

far as they can with family or friends, and then transform it into a wheelchair to rest while still continuing the journey.

45

Healthy Living

FOOT DROP

BY MAYO CLINIC

Diagnosis

Foot drop is usually diagnosed during a physical exam.

Your doctor will watch you walk and check your leg

muscles for weakness. He or she may also check for

numbness on your shin and on the top of your foot and

toes.

Imaging tests

Foot drop is sometimes caused by an overgrowth of bone

in the spinal canal or by a tumor or cyst pressing on the

nerve in the knee or spine. Imaging tests can help pinpoint

these types of problems.

• X-rays. Plain X-rays use a low level of radiation to visualize

a soft tissue mass or a bone lesion that might be

causing your symptoms.

• Ultrasound. This technology, which uses sound waves

to create images of internal structures, can check for

cysts or tumors on the nerve or show swelling on the

nerve from compression.

• CT scan. This combines X-ray images taken from

many different angles to form cross-sectional views

of structures within the body.

• Magnetic resonance imaging (MRI). This test uses

radio waves and a strong magnetic field to create

detailed images. MRI is particularly useful in visualizing

soft tissue lesions that may be compressing a

nerve.

Treatment for foot drop depends on the cause. If the

cause is successfully treated, foot drop might improve or

even disappear. If the cause can't be treated, foot drop

can be permanent.

Foot drop

The most common type of foot drop is

caused by injury to the peroneal nerve,

which controls the muscles that lift your

foot. Foot drop can be temporary or permanent.

A brace can help hold your foot

in a more normal position.

Nerve tests

Electromyography (EMG) and nerve conduction studies

measure electrical activity in the muscles and nerves.

These tests can be uncomfortable, but they're useful

in determining the location of the damage along the

affected nerve.

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Healthy Living

Treatment for foot drop might include:

• Braces or splints. A brace on your ankle and foot or

splint that fits into your shoe can help hold your foot

in a normal position.

• Physical therapy. Exercises that strengthen your leg

muscles and help you maintain the range of motion

in your knee and ankle might improve gait problems

associated with foot drop. Stretching exercises are particularly

important to prevent the stiffness in the heel.

• Nerve stimulation. Sometimes stimulating the nerve

that lifts the foot improves foot drop.

• Surgery. Depending upon the cause, and if your foot

drop is relatively new, nerve surgery might be helpful.

If foot drop is long-standing, your doctor might suggest

surgery that fuses ankle or foot bones or a procedure

that transfers a working tendon and attached muscle

to a different part of the foot.

Lifestyle and home remedies

Because foot drop can increase your risk of tripping and

falling, consider taking these precautions around your

house:

• Keep all floors clear of clutter.

• Avoid the use of throw rugs.

• Move electrical cords away from walkways.

• Make sure rooms and stairways are well-lit.

• Place fluorescent tape on the top and bottom steps of

stairways.

• Is my condition likely temporary or chronic?

• What treatment do you recommend?

• Do you have brochures or other printed material I can

have?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask questions, such as:

• Are your symptoms present all the time, or do they

come and go?

• Does anything seem to make your symptoms better?

• Does anything seem to make your symptoms worse?

• Do you notice weakness in your legs?

• Does your foot slap the floor when you walk?

• Do you have numbness or tingling in your foot or leg?

• Do you have pain? If so what is it like and where is it

located?

• Do you have a history of diabetes?

• Do you have other muscle weakness?

Article available at: https://www.mayoclinic.org/diseases-conditions/foot-drop/diagnosis-treatment/

drc-20372633

Preparing for your appointment

You're likely to start by seeing your family doctor.

Depending on the suspected cause of foot drop, you

may be referred to a doctor who specializes in brain and

nerve disorders (neurologist).

Here's some information to help you get ready for your

appointment.

What you can do

Make a list of:

• Your symptoms, including ones that seem unrelated to

the reason for which you scheduled the appointment,

and when they began

• Key personal information, including major stresses or

recent life changes

• All medications, vitamins or supplements you take,

including doses

• Questions to ask your doctor

For foot drop, questions to ask your doctor include:

• What's causing my symptoms?

• What tests do I need?

47

Cape Branch News

Awareness session in Philippi

The Cape Branch of the Muscular Dystrophy Foundation

conducted an awareness session in Philippi on 11

June 2021. The aim was to help the attendees have a

better understanding of muscular dystrophy. It was well

attended and the staff were pleased to be ablwe to share

information with this farming community.

48

KZN BRANCH NEWS

The MDF KZN Branch has had the privilege of handing over a

manual customised wheelchair to Andile Maseka, a learner at

Open Air School in Durban. On receiving a request for assistance

from the school’s physiotherapy department, the KZN Branch was

able to seek a donation from Palm Footwear.

We are grateful to Jay Marrie and her management team at Palm

Footwear for their support and contribution towards Andile’s

manual wheelchair.

Thank you Palm Footwear. Your support means hope to Andile

and the MDF KZN Branch.

Message to all members on the MDF KZN database

Kindly update your contact details on our database by sending an e-mail to accountskzn@mdsa.org.za or by

phoning us on 031 332 0211 between 08h00 and 16h00 (Monday to Friday).

Thank you to all who have already updated their details.

49

Gauteng Branch News

GAUTENG AND BABIES

Extremely beautiful, cute and cuddly. But they keep you awake

at night and sleepy by day.

The MDF Gauteng Branch was recently blessed with two toothless

members of our personnel. They are not on our payroll, but

they have an impact on our office.

Themba Bumba, the Business Development Specialist of our

branch, and his wife, Mbali, became the proud parents of a baby

boy. Themba has no problems when it comes to rubbing out

winds. He can also change a nappy with closed eyes. However,

the days are long for a father who now has four children and has

to work during the day and is on night shift when he gets home.

The baby was christened Akhanya, which means “light”.

From the rest of the branch, we would like to congratulate the

Bumba’s on their baby. May he become the star of Mamelodi

Sundowns in 2042 and shine as a goal poacher. We believe that

he will live up to his name.

Mulanga Kharidzha and her husband, Murendeni Nematonzhe, recently had a baby girl, Gundo Nematonzhe.

Gundo, whose name means “victory”, was born in April, a week before the expected date. Mulanga had been

working her last day before her planned maternity leave. She went home that afternoon as usual, with the

idea of having a last peaceful weekend before the long nights and sleep deprivation started. Gundo decided

differently and was born that same evening!

As a first-time mum, Mulanga realised that you have to make use of your resources (in the form of Gundo’s

grandparents) in trying times. She and Gundo fled the cold winter in Gauteng and went to visit her family,

where it is warmer and there are more hands to help and love them through the first three months.

We are looking forward to meeting Gundo face to face.

Welcome back Robert Scott

I have long been a familiar face at MDF Gauteng from 2017 all

the way through 2020.

I took the decision at the end of 2020 and left the Foundation to

pursue other ventures.

However, it soon became apparent to me that something was all

of a sudden missing in my life. During my years at the Foundation

I was fortunate enough to meet many amazing and inspiring

people, all of whom left a mark on me.

I soon came to the realization that MDF was what was missing for

me. The sense of purpose, the relationships built and the calling

greater than myself was something I longed for once again.

Thankfully I have found my way back to the Foundation and I

look forward to being here for many years to come and to continue

the amazing journey that I started so many years ago!

50

Gauteng Branch News

Importance of awareness

By Beauty Matimu Mathebula

It happens frequently that community members ask me where I work and what I do. When I tell them of my

involvement with the Muscular Dystrophy Foundation of South Africa (MDF), most of them say they don’t

know anything about the disease.

I then tell them what muscular dystrophy (MD) entails: that it is an inherited disorder affecting one in every

1 200 people; that it results from genetic mutations causing a dysfunction in or lack of proteins essential for

muscle cell stability; that this leads to progressive destruction and weakness in the muscles; that there are

different types of MD that vary in certain ways; and that the MDF renders social work services and support to

members and their families, runs awareness and educational programmes, and supplies equipment where

we can.

When I walk away from such a discussion, I always feel pleased, thinking to myself, “One more person is

now aware of muscular dystrophy”.

Creating awareness of MD and disability is a vital part of the MDF’s role, and for this purpose regular awareness

campaigns are conducted. An awareness campaign is typically defined as a sustained effort to educate

individuals and boost public awareness about an organisation, cause or issue. It can include activities planned

for a specific time or addressed to a specific target group, aiming to increase knowledge and leading to positive

changes in thinking and behaviour regarding a specific social issue. Such campaigns include advertising

through different types of media – television, radio, internet and print ‒ so as to reach a wider audience.

The MDF’s “Get into the Green Scene” campaign strives to create awareness during the muscular dystrophy

awareness month (September). Creating awareness in public hospitals, clinics, schools and other NGOs is

normally part of the social workers’ role, but the Covid-19 pandemic has curtailed work in these areas.

The challenges faced by people with a disability such as MD, both in public and in the family, are significantly

influenced by others’ knowledge about and attitude towards disability. Examples include the religious beliefs

of families, which can be used by others to mock people living with a disability; the lack of assistive devices,

which contributes to why they are unable to go out and or be involved in activities in their communities, such

as in sport, religion, etc; and societal barriers preventing participation, such as a lack of disability friendly

facilities and sporting amenities.

Awareness campaigns are therefore needed to ensure that muscular dystrophy is understood by families and

communities. Advocating for the needs of people living with muscular dystrophy is also required to ensure

that new public structures accommodate the needs of people living with disabilities.

The MDF in Gauteng aims to continue raising community awareness of muscular dystrophy and how people

affected with it can live a fulfilling life, although Covid-19 and the related restrictions hamper the implementation

of programmes. In Gauteng we usually focus on schools to create awareness among children, who can

also spread the information at home.

During September, the MD awareness month, we hope you will hear us on the community radios, where we

will be involved in interviews to raise awareness of muscular dystrophy and the effect that it has on members

and their families. We will conduct interviews in different provinces and for different language groups.

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Enquiries: (021) 592 3370

MDF Magazine Issue 65 August 2021 (2)

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