MDF Magazine Issue 64 April 2021

chikadee

MAGAZINE

Autumn Issue 64

April 2021

25 questions

about FSH

Two dudes,

one goal

What is it like

living with

DMD?

Rare diseases day 2021


Enquiries: (021) 592 3370


CONTENTS

MDF MAGAZINE

MD Information

10 Principles and priorities for safe and effective activity

and exercise

15 25 questions about FSH

20 Myasthenia gravis fact sheet

TRAVEL

24 Rocherpan reloaded

»»

p.10

»»

p.42 »»

p.29

»»

p.49

People

26 Rare diseases day 2021

27 Voice from the wheelchair

28 Luca Buccella – we are the makers of our future

29 WCMX (wheelchairs can’t make an X-split?)

30 Two dudes, one goal: podcast hosts Kyle Bryant and Sean

Baumstark envision (then live) life beyond circumstances

Regular Features

34 Sandra’s thoughts on wearing masks

36 The View from Down Here

38 Kiddies corner

39 Doctor’s corner

40 Random gravity checks

Research

42 Exon 45 skipping therapy for DMD shows safety in small trial

43 Scientists edge closer to treatment for myotonic dystrophy

Healthy Living

44 Covid-19 vaccines pose little risk to rare disease patients,

FDA, CDC say

46 COVID-19 Coronavirus vaccine myths and facts

47 Meditation and neuromuscular disease

49 What is it like living with DMD?

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 Lian van Eyk.

Future Issues: August 2021

(Deadline: 2 July 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:

Mother Nature showed us a couple of weeks ago with the heavy rain that it is time

for renewal and rebirth. Rain can symbolize a good thing coming after a bad time

or it can just mean the washing away of the old and re-growing of something better.

The year 2020 was quite a difficult one for most of us. The coronavirus pandemic

has left quite a lasting impact on most of our lives and unfortunately will continue

to affect our lives for some time to come. Now that we have entered 2021, we must

try our best to let 2020 become a memory and celebrate the New Year with joy and

happiness. This is however quite a tall order. My best advice is to hold on to hope

and persevere for a brighter and better tomorrow.

In this edition you can read about the significance of muscular dystrophy and the

Ferrari Dino and, as usual, there is also enlightening information about muscular

dystrophy and research being conducted.

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

to contact the office.

Regards

Gerda Brown

“The doors of MDFSA are always

open if you need to talk or just

drop in for a cup of coffee.”

4

A family of thick knee kiewiets

really took our invitation to heart

and made our garden their home.


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

Banking details: Nedbank, current

account no. 2011007631, branch

code 101109

GAUTENG BRANCH (Gauteng,

Free State, Mpumalanga, Limpopo

& North West)

E-mail: gauteng@mdsa.org.za

Website: www.mdfgauteng.org

Website: www.muscleriders.co.za

Tel: 011 472-9824

Fax: 086 646 9118

Address: 12 Botes Street, Florida

Park, 1709

Banking details: Nedbank, current

account no. 1958323284, branch

code 192841

Pretoria Office

E-mail: swpta@mdsa.org.za

Tel: 012 323-4462

Address: 8 Dr Savage Road,

Prinshof, Pretoria

KZN BRANCH (KZN & part of

Eastern Cape)

E-mail: kzn@mdsa.org.za

Tel: 031 332-0211

Address: Office 7, 24 Somtseu Road,

Durban, 4000

Banking details: Nedbank, current

account no. 1069431362, branch

code 198765

General MD Information

Cape Town

Lee Leith

Tel: 021 794-5737

E-mail: leeleith@mweb.co.za

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

Achieve financial

freedom and support

MDFSA

Clive Harper has over 39 years’ experience working in the financial

services industry. For the past 12 years his focus has been empowering

people as a financial wellness speaker, trainer, coach and

financial planner. Clive has a postgraduate qualification in financial

planning.

Clive will host a one-hour digital course on financial wellness on 28

April 2021 and 30 April 2021 from 9h00 to 10h00. All proceeds will

go to the Muscular Dystrophy Foundation of South Africa.

Cost: R500

Course content

• Ubuntu and helping family(Don’t

set yourself on fire to keep

others warm)

• Understand your payslip

• Credit cards and loans

• Bad debt – micro loans

• Cost of credit

• Your credit record

• Credit/lease agreements

• Purchasing a vehicle

• Have a plan for every stage of

your life

• Budget

• Manage debt

• Saving

• Investing money

• Investing in property

Please contact Sarie Truter if

you wish to attend

Tel. 011 472-9703;

nationalfinance@mdsa.org.za

6


MDF merchandise

Please email your order and proof of payment to

gmnational@mdsa.org.za by 31 August 2020.

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.


National News

Did you know?

Alfredo Ferrari

Published online by Wikipedia

Alfredo Ferrari (nicknamed

Alfredino or Dino) (1932–1956)

was an Italian automotive engineer

and the first son of automaker

Enzo Ferrari. He had

Duchenne muscular dystrophy

and died at the age of 24. After

his death, Ferrari named the car

fitted with the engine that Alfredo

was working on at the time of his

death "Dino" in his honour.

Early life

Born to Enzo Ferrari and his wife

Laura Dominica Garello, Alfredo

was named after his paternal

grandfather. Enzo, who at the

time was a racing driver for Alfa

Romeo, had vowed to stop racing

cars if he had a son. True to his

word, he retired from driving in

1932 and concentrated on racing

team management with his newly

formed Scuderia Ferrari.

From an early age Enzo groomed

Alfredino, "little Alfredo", to be his

successor. Alfredo studied economics

in Bologna before moving

to mechanical engineering in

Switzerland.

Career at Ferrari

In his short career at Ferrari,

Alfredo was widely credited for

the 750 Monza racing car and

to a limited extent a 1.5 litre V6

that would later see action in

Ferrari's early Formula racers.

Alfredo suggested to his father

8

the development of a 1.5 litre

DOHC V6 engine for F2 at the

end of 1955. Two years later in

1957, to honour his son, Enzo

named the Dino series of racing

sports cars using this V6 engine

after him. Road cars under the

same marque soon followed.

Death

During his time at Ferrari, Alfredo

started experiencing health problems.

His physical movements

gradually became stiff and

he was often unable to maintain

his balance. At his return

to Modena, he was diagnosed

with Duchenne muscular dystrophy.

In the final days of his life,

while hospitalized, he discussed

technical details of the 1.5-litre

V6 with fellow engineer Vittorio

Jano. Alfredo would never see

the engine; he died in Modena

on 30 June 1956 at the age of 24.

The death of Alfredo took a toll

on his parents' marriage, as his

mother never got over the loss of

her only son and her behaviour

became increasingly erratic and

unstable.

The Autodromo Enzo e Dino

Ferrari in Italy was originally

named the "Autodromo Dino

Ferrari" in Alfredo's honour, with

his father's name added after

Enzo's death in 1988.

Article available at: https://

en.wikipedia.org/wiki/Alfredo_

Ferrari#:~:text=He%20had%20

Duchenne%20muscular%20

dystrophy,%22Dino%22%20

in%20his%20honour


By Erica Zahn

Published online by

PatientWorthy

What did Greek shipping

magnate Aristotle Onassis,

Academy Award-winning actor

Sir Lawrence [sic] Olivier, and a

four-year-old girl named Hattie,

have in common?

National News

Myasthenia Gravis are

Fancy Words For: I Have a

Rare Disease!

They all had or have a neurological

disease that affected

their muscles called Myasthenia

Gravis (MG).

MG is a chronic disorder that

is characterized by fluctuating

weakness of voluntary muscle

groups and is thought to affect

20 out of 100,000 people in the

United States. Among a variety

of symptoms accompanying MG

are slurred speech, weakness in

the limbs, a drooping eyelid, and

difficulty breathing. For some, the

symptoms come and go – one

day they are fine taking steps,

and the next day … well, not so

much.

.

Article available at: https://patientworthy.com/2015/11/11/myasthenia-gravis-mg-fancy-words-rare-disease/

9


MD Information

PRINCIPLES AND PRIORITIES

FOR SAFE AND EFFECTIVE

ACTIVITY AND EXERCISE

PUBLISHED ONLINE BY MUSCULAR DYSTROPHY UK

(SECTION 3 AND APPENDIX 1 OF

“EXERCISE ADVICE FOR ADULTS WITH A MUSCLE-WASTING CONDITION”)

This section focuses

on three main types of

physical

activity/exercise:

a) aerobic activity or

exercise

b) strengthening

activities or resistance

exercise

c) stretching exercise.

a) Aerobic activity/exercise

• This type of exercise is any

physical activity that makes

your heart beat faster and/or

increases your rate of breathing.

It uses large groups of

muscles and, once established,

ideally you should be

able to sustain it comfortably

for a number of minutes.

• Examples of aerobic exercise

include walking, swimming,

using an exercise bike, propelling

your wheelchair, doing

housework and gardening.

• Aerobic activity/exercise

improves the function of your

heart, circulation and lungs. By

improving your general fitness,

this type of activity is also good

for your overall health and may

help prevent chronic disease.

• Relatively small increases in

physical activity can protect

you against chronic disease

and can improve your quality

of life by allowing you to do a

little more each day.

• Discuss with your cardiologist,

physiotherapist or neurologist

what type of aerobic activity

may be best for you.

How often should I do aerobic

activity/exercise and how long

should each exercise session

last?

• Make a note of what you can

do and for how long.

• Start with what you can do

comfortably.

• Gradually increase the length

or frequency of sessions.

Remember, though, that if

you’re having a bad day in

terms of fatigue, you may not

be able to do much. Don’t give

up and feel as though you have

taken a backward step. This is

entirely normal, and you can

restart your activity practice

once you’re feeling better.

• Make sure you include rest

periods for your muscles to

recover and to limit fatigue.

• Try to spread your physical

activity/exercise sessions

across the week to fit in with

your lifestyle and other home/

work commitments.

Key messages

• Something is better than

nothing.

• Aim not to be still for too long.

• Ensure you pace activity with

rest as needed.

How hard should I exercise?

• Aim for moderate intensity

physical activity.

• To exercise at a moderate

intensity, you will:

o feel warmer and perspire a

little

o take deeper breaths, but still

be able to talk comfortably in

full sentences (try repeating

10


MD Information

this when exercising: this

exercise is good for me).

• Using the ‘Borg RPE Scale’

(see Appendix 1), you should

work up to the RPE Scale levels

3-5 if you can.

• Rate how you feel at the beginning

of the activity, see what you

can do safely and comfortably,

and keep this as your starting

point from which to work.

• Longer and more strenuous

activity/exercise sessions

should also include a

threeto five-minute warm-up to

increase your body temperature

and reduce the potential for

post-exercise stiffness, and a

five- to ten-minute cool-down

to allow recovery of your heart

rate. Your therapist can help

you decide how you do this

In summary:

What type of

activity?

Aerobic activity/

exercise

For example, walking

to work, wheeling your

wheelchair, activities

of daily living, cycling,

swimming or static

bike.

How often? How hard? How long? What do I need to

be careful of?

Try to make

being active

part of your

daily routine or

try to be active

in these ways at

least five times

a week.

Comfortably out

of breath but

still able to talk;

Borg RPE

Scale 3 to 5.

30 minutes

intermittent

bouts aiming

for at least

10 minutes.

Do not exercise to

exhaustion

Use the Borg RPE

Scale as a

guide.

Any activity that uses

large muscle groups

and that can be

maintained

continuously and

rhythmically for a

period

of time.

b) Strengthening activities or

resistance exercise

• Can include working against

the force of gravity, using your

own body weight, lifting small

weights or pulling elastic exercise

bands.

• Generally, strengthening activities/exercises

involve the major

muscle groups.

• It is important to think about

strengthening the muscles of

your arms and legs, stomach

and back (‘core’) muscles.

• Improved core strength can

help improve your posture and

balance, which can reduce the

risk of falling and can help with

day-to-day activities, such as

wheelchair transfers.

• Avoid excessive ‘eccentric’

activity. This means repetitive

tasks or exercises where the

muscle is being lengthened,

for example squats.

• Eccentric exercises put much

greater force through the

muscle and can lead to muscle

soreness and potentially some

damage.

Talk to your physiotherapist

about which muscles you should

strengthen and how, as this will

be different for everyone.

It is important to think about

improving the endurance of your

muscles, rather than strengthening

or trying to build up muscle

bulk. This will help you with dayto-day

tasks and allow you to

do them for longer, for example,

being able to climb more stairs

before you get tired. It may not be

possible to strengthen muscles

that are very weak because of a

muscle-wasting condition, but it’s

important to maintain what you

have for as long as you can.

How often should I do strengthening

exercises and how long

should each exercise session

last?

• Ideally you should do strengthening

exercises at least twice

a week (UK Chief Medical

Officer’s Physical Activity

Guidelines 2019)

• It is better not to do strengthening

exercises on consecutive

days; give your muscles a

chance to recover.

• Within an exercise session, you

should alternate the muscles

you exercise, so if you start with

an arm exercise, do a leg exercise

next.

If adding these exercises makes

your muscles too weak, sore or

fatigued to perform daily tasks,

then do less exercise or speak

to your physiotherapist.

11


MD Information

How hard should the

strengthening exercises be?

• Low- to moderate-strength

(resistance) exercises are safe

for most people with musclewasting

conditions.

• Avoid lifting heavy weights

as this may cause damage to

already vulnerable muscles,

and put additional strain on surrounding

ligaments and joints.

• Take care to protect your

neck, back and posture when

doing any lifting, to avoid other

injuries.

• Increase the number of repetitions

rather than the weight you

lift.

• Stop the exercise if your

muscles shake too much or the

movements become jerky.

• When you start a new strength

exercise you might expect to be

a little bit achy, but any muscle

soreness should have gone

after 48 hours.

In very rare circumstances,

people with muscle-wasting conditions

can experience changes

in the colour of their urine after

exercise (in other words, urine

that appears the colour of black

tea or cola). Attend A&E if you

notice such a change, as this

could be a condition called

myoglobinuria.

In summary:

What type of

activity?

Strengthening

activities/exercises

Using exercise bands,

small weights or Tai

Chi/Pilates/yoga/mat

work style exercises.

Individual programme:

seek advice about

which muscles to

strengthen.

How often? How hard? How long? What do I need to

be careful of?

At least twice a

week.

Stop before

fatigue.

One set of

eight to

twelve

repetitions for

each muscle

group

identified.

Gradually

increase to

three sets as

you are able.

Low/moderate weights;

increase number of

repetitions rather than

weight.

c) Stretching exercises

• It is important to have good

muscle length and range of

movement for day-to-day

activities. For example, having

enough range in your shoulder

joint will help for washing and

dressing activities.

• You can include stretching

exercises in your activity/exercise

programme. It is easier

and safer to do your stretches

when your muscles and joints

are warm. Good times to do

stretches would be once you

have been active or after a bath

or shower.

• A number of very rare neuromuscular

conditions involve

tightness/contractures of the

spine or other joints. In this

case, the goal of these activities

would be to keep the flexibility

you have, rather than gain

more.

• Please take care that you do

not over-stretch weak muscles

or joints that are already very

mobile.

• If any particular muscles or

joints are stiff, you may need

a more focused stretching programme.

Speak to your physiotherapist,

who can advise you

which muscles or joints it would

be good for you to stretch.

• Activities such as gentle yoga

and Pilates can be effective.

These exercises and any

stretches can be adapted so

you do them in the best position

for you. (Please see link

in Appendix 1.)

• If you are too weak to do your

own stretches, you can do them

with help from a family member

or your carer. (Please see link

in Appendix 1.)

How often should I do stretches

and how long should each

session last?

• Stretches are more effective

when you do them regularly.

• Include them in your daily tasks,

such as doing stretches for your

calf muscles while brushing

your teeth.

• Try to hold each stretch for

30-40 seconds.

• The stretch should be slow and

sustained, with no bouncing.

12


MD Information

In summary:

What type of

activity?

Flexibility

For example,

stretches (lying,

seated or standing),

Pilates or yoga.

Static or passive

stretch.

How often? How hard? How long? What do I need to

be careful of?

Try to do this as

part of your

daily routine or

at least two/three

times a week.

Stretching

sensation but

no pain.*

30- to 40- Second

holds.

Repeat two to four

times

Do not ‘bounce’.

If you have impaired

or absent feeling or

no appreciation of

pain.

If you are able to walk as an exercise, consider using the Active 10 app:

https://campaignresources.phe.gov.uk/resources/campaigns/60-one-you-active-10/Overview

If you aim to do 10-minute blocks of physical activity or exercise, that is a positive start.

*Take extra care with any of

the above if you have altered

sensation, very weak muscles or poor

balance…

Article available at: https://www.musculardystrophyuk.org/wp-content/uploads/2021/02/

Adult-Exercise-Advice-for-People-with-

Muscle-Wasting-Conditions-Final.pdf

We would like to thank

Department of Social

Development (Gauteng

Province) for aiding us with

a much needed vehicle. This

will enable us to reach all

our special members.

13


14


MD Information

25 QUESTIONS ABOUT FSH

PUBLISHED ONLINE BY FSH-MD SUPPORT GROUP UK

4. What causes it?

It is a genetic condition, present

from when or soon after egg

and sperm come together at

conception. Normally, at a

particular site on the gene map,

each of us has many copies of a

particular sequence of genetic

instruction (DNA), arranged like a

train of identical carriages. FSHD

is caused when the number of

copies is reduced below a certain

level, like a train having too few

carriages. In some way this seems

to influence the production or

assembly of several of the protein

components of the affected muscles.

1. What is FSH-MD?

FSH-MD is a muscle wasting

condition, caused by a genetic

fault, which may be affecting the

regulation of the level of many of the

different proteins in muscles.

2. Why this name, and are there

others?

The name describes the usual

distribution of weakened muscles:

‘facio’ = facial; ‘scapulo’ =

shoulder blade; ‘humeral’ = upper

arm. Landouzy-Dejerine and

facioscapuloperoneal muscular dystrophy

are two previously used terms.

Also, some people with a diagnosis

of scapulohumeral or scapuloperoneal

syndromes may have this

condition. However, the legs can also

be affected.

3. How rare is it?

It is probably the third most common

muscular dystrophy (after Duchenne

and myotonic dystrophies),

although its frequency may vary in

different places and quite possibly

in different racial groups. Estimates

of frequency have varied from one

in about 400,000 to one in 20,000.

In Britain, the frequency is at least

one person in every 50,000, and

probably closer to one in 20,000,

accounting for between about 1200

and 3000 cases in all.

5. How severe or mild is it?

The degree of weakness or

disability can vary quite widely

between different affected members

in a family, but can show even greater

variation between people in different

families. For some, it can result in

weakness not only of facial muscles

and shoulders/upper arms, but also

of additional combinations from

the neck, forearms, wrists, fingers,

hips, legs, ankles and the back

muscles. Around 10–20% of people

eventually require a wheelchair, but

by contrast, up to one third remain

unaware of symptoms at least into

old age, although may well have

subtle detectable clinical signs. The

majority of people come between

these two extremes. The average

severity of presentation in a family, or

in a single case, seems to correlate

with the smallness of the number of

copies of the DNA repeat sequence

which remain (i.e. the fewer copies

left, the greater is the severity). In

general, the most severely affected

people tend to be the ones who have

15


MD Information

the altered genetic instruction for the

first time in the family, and where the

symptoms of weakness are evident

from early childhood.

6. Are men and women affected

equally?

We now know that, on average, men

do tend to show more weakness

and from a slightly earlier age than

women. The reason for this is not

yet clear. Within large families, and

therefore excluding the most severe

cases, women are more likely to be

less severely affected and so could

be unaware that they have inherited

the condition.

7. What are the mildest signs that

someone is affected?

Within the context of a family history

of FSHD, weakness of facial muscles

can be suspected if the eyes remain

slightly open when asleep, particularly

in young children, or if the eyelids

cannot be screwed tightly enough to

bury the eyelashes. Difficulties in

pursing the lips to whistle or to play

a woodwind or brass instrument,

or in blowing up balloons, are aslo

[sic] suggestive of the condition.

During the teenage years or in adulthood,

excessive aching around the

shoulders, rounded shoulders ad

[sic] thin upper arms may be the first

presenting signs or symptoms.

8. Does FSHD-MD affect lifespan?

Generally speaking, lifespan is not

affected, except perhaps in the most

severe cases with greatly impaired

mobility and consequent greater

risk of chest infections. There are

some recent reports suggesting an

increased association with heart

rhythm disorders, but only in a few

cases, and these are responsive to

appropriate medication. Because

of these reports, adults with FSHD

would be advised to see their GP (or

hospital doctor) every few years for

a simple heart check.

9. Will I become disabled?

The earlier in life the weakness

appears the greater it is [sic]

eventual severity. Nevertheless,

the progression of either arm or leg

weakness in the individual can be

hard to predict. Although the legs

are affected to some degree in over

50% of people, for those in whom

this does not become evident until

early adulthood, even an eventual

requirement for a wheelchair is

unlikely. To some extent, knowledge

of the size of the DNA rearrangement

(i.e. the number of repeat units

remaining) in a person with FSHD

can give a broad guide as to whether

the course of the condition would be

expected to be relatively mild of [sic]

more severe. One fairly common

feature of FSHD is an asymmetry of

weakness: an uneven distribution of

muscle weakness where one side of

the body is more affected than the

other (particularly early on). This is

often evident in the shoulders, usually

with the right side to be the first one

involved in right-handed people.

10. In what way are the legs

affected?

Early weakness at the ankles causing

‘foot drop’ is not uncommon. Some

degree of weakness at the knees

or hips develops by middle age in

over 50% of people. Together with

weakness in the back muscles,

this can result in a typical

backward-leaning and high-stepping

gait, although only 10–20% ever

requires a wheelchair.

11. Can any other problems be

anticipated?

In some of the earliest childhood

onset cases, learning difficulties

and epilepsy have been reported.

Hearing loss and specific problems

with blood vessels at the back of the

eye have been found, and although

this rarely causes visual problems, a

periodic eye check may be useful. It

is still uncertain whether these rare

features are generally associated

16


MD Information

in mild degree with FSHD, or are

limited to a few more severe cases.

Muscle pain is unfortunately a quite

frequent complaint accompanying

FSHD, often in the early stages. This

may relate to inflammation within

the muscles, which seems to occur

more in FSHD than other muscular

dystrophies. Treatment with simple

analgesia combined with anti-inflammatory

agents is usually tried but

the effectiveness for relief can vary.

Further studies are needed.

12. How is it inherited?

A separate gene determines each

hereditary characteristic or function.

These genes are packed together

in to chromosomes like beads on

a string. There are two copies of

each chromosome (excepting the X

and Y chromosomes in males), and

hence two copies of each gene (a

pair), coming one from each parent.

The ‘gene’ for FSHD is at one end

of each copy of chromosome 4. In

FSHD, one copy of this particular

pair is faulty (part of it is missing,

which is referred to as a ‘deletion’).

Hence there is a 50:50 (1 in

2) chance for each of the offspring

of an affected parent to inherit the

faulty copy, resulting in FSHD. They

also have an equal chance of inheriting

the good copy (resulting in no

risk for these individuals or their

descendants of being affected by

FSHD). This pattern of inheritance

is called ‘autosomal dominant’.

13. With completion of the ‘human

genome project’ has the gene

causing FSHD been identified?

Unfortunately the situation is a little

more complex than as discussed (in

answer 12) above. Amongst genetic

conditions, FSHMD seems so far to

be unique in that the genetic fault

‘mutation’) [sic] is the reduction

(‘deletion’ at one end of the

chromosome 4) of multiple copies of

a repeated sequence of DNA (likened

to reducing the number of carriages

in a train). This DNA change which

is the dominantly inherited factor,

is probably exerting an effect on

the way that the function of many

genes is regulated in muscle, and

particularly in the muscles of the

face and shoulder girdle. Hence,

there may be many ‘genes’ which

are involved in causing FSHD, but

for which the controlling dominantly

inherited mutation always occurs at

the same place on chromosome 4.

Much current research in FSHD is

aimed at trying to define this link.

14. Can FSHD be diagnosed from

a blood sample?

The DNA mutation causing FSHD

can indeed be recognised from

a blood sample in most people

with this condition. However,

interpretation of the test is not always

easy, and the DNA sample will need

to be forwarded to one of a few

molecular genetic laboratories able

to offer this. In individual cases it can

be harder to exclude the diagnosis

than to confirm it, although both are

usually made easier if blood samples

are also taken from both parents

of a possible affected person. In

families where there several [sic]

people known to be affected,

confirmation of diagnosis, or genetic

prediction for an individual family

member, will almost always be

possible if blood samples are

collected from several of the affected

people.

15. Is there always a family

history?

A person diagnosed with FSHD,

particularly if this is in early childhood,

may have a fresh mutation

(i.e. they have not inherited it from

either of their parents). More often,

however, a person diagnosed with

FSHD will have inherited the faulty

gene from one of his or her parents.

It may be that a newly diagnosed

person finds that there is a family

history, but that this had not been

recognised before because the

symptoms of other family members

had been very mild, or had been

misdiagnosed. We now also know

that in a significant proportion of

even quite early onset cases in

children, who appear to be the

first ones in a family, one of the

parents can show the same FSHD

mutation in some of their cells but not

in others. This ‘ mosaic’ situation in

the parent may not give any symptoms

in them, but does mean that

further children of theirs would have

a risk of being affected. We would

therefore always recommend that

both parents be invited to provide

blood samples for DNA study if they

wish to know about potential risk

to future children. In other cases

genetic testing may help resolve any

uncertainty over the affected status

of a young adult. Family members

or couples seeking further information

should refer to their local Clinical

Genetics Service.

16. How severely affected would

my sons and daughters be?

The age at onset of symptoms,

and hence the severity of FSHD,

seems to correlate broadly with the

extent of the DNA rearrangement on

chromosome 4, which once it has

arisen remains a fixed size in a

family. Thus there will be some

families where FSHD will always

tend to be quire [sic] severe, and

others where it will always be

relatively mild. However, there

can still be considerable variation

within a family for severity and

age at onset. Partly, this is due to

differences between men and

women. Although, men and women

develop the same symptoms, males

tend to develop these earlier, and

be more severe at a given age

than females. By age 30 years, just

about all males with FSHD exhibit

symptoms, but only two-thirds of

females do. We now know that some

people (particularly men) average

[sic] or mild presentations of FSHD,

may, if they are the first cases in

a family, have a mixture of normal

and FSHD-type cells and their

offspring, who have inherited the FSHD

mutation, would do so in all their

cells, and therefore present earlier

and more severely. Data from many

families suggests that offspring

inheriting the faulty gene are likely to

be affected from a similar young age

and at least as severely as occurred

in their affected parent, although in

large families affected daughters with

FSH might be milder than their fathers.

17


MD Information

17. At what age does it usually

start?

This is dependent on the extent of

the DNA rearrangement. In large

families with several affected

members, an affected person usually

first becomes aware of muscle

weakness in teenage years or

early adulthood, when he or she

experiences difficulty in raising

one of [sic] both arms, or notices

prominent shoulder blades or

wasting of upper arm muscles. In the

more severe cases, which are often

the first ones in a family and arising

from a new mutation giving a small

residual DNA repeat length, impaired

movement of facial muscles,

particularly around the mouth can be

evident by early childhood, followed

by the shoulder girdle and upper

arm weakness. In these children

progressive weakness of the legs

can start to develop by teenage

years and lead to the need for

a wheelchair. By contrast, in the

mildest families, with the largest

residual DNA repeat lengths, people

inheriting the condition may remain

unaware of symptoms until even late

in adulthood.

18. If I have no symptoms can I

still carry the gene and pass it on

to my children?

If the person with FSHD has been

affected from childhood, it is very

unlikely that an adult relative (say

a brother or sister) who is unaware

of any symptoms could ‘carry’ the

faulty gene or pass on FSHD to their

children. The parents of the affected

child are an exception, as they could

be ‘carrying’ the mutation but in only

some of their cells, and hence pass

this on to more than one child. For

people from families where several

relatives of a parent have FSHD,

one cannot give the same level of

reassurance except following DNA

testing. In these situations, many

people ‘at risk’ may be affected

only mildly, and are unaware of the

abnormal signs that are present.

Although some degree of

reassurance may be

possible if examined by a doctor

well familiar with the condition, we

now know that up to one-third of

adult women carrying the milder

mutations of FSHD, and a probably

much smaller proportion of men,

may not be showing any definite

sign of the condition. Therefore, the

answer to this question can only be

given reliably following DNA testing.

19. If one of my children is affected,

but another seems clear, is he

or she likely to have ‘escaped’

inheriting FSHD-MD?

If the apparently unaffected child

is several years beyond the age

at which the affected on [sic] first

presented with symptoms, it

becomes very likely that they have

not inherited the condition. This is

particularly so if the affected child

is the first-presenting person in the

family, and if the DNA testing has

shown that their condition has arisen

from a new DNA rearrangement (a

new mutation) not present in a DNA

sample from either parent. However,

if either parent is clinically affected

or carries the mutation, only DNA

testing can give reassurance. If a

child has no signs of FSHD, requests

for DNA testing would normally be

refused until the child is of an age to

choose this for themselves.

20. Can I avoid passing the faulty

gene on to my children?

Accurate pre-natal testing,

performed by chorion villus

biopsy (CVS), usually at 11 weeks

gestation, is now available to most

couples who would wish this, and

whose offspring would be at risk of

FSHD. It is essential that genetic

(DNA) tests be performed first on

blood samples from the affected

parent or child to define the DNA

mutation in that family. Blood

samples would usually be required

from both parents, and in some

cases from other affected relatives.

The CVS procedure is no [sic] widely

available, although the tissue sample

obtained would be forwarded to one

of a few specialist genetic laboratories.

Couples considering this should

consult with their local genetic service

that would advise accordingly,

preferably prior to becoming

pregnant.

21. Can I improve muscle

strength?

There are no cures or specific drug

treatments. Regular gentle exercise

(especially swimming ) is beneficial.

It is essential to keep your weight

down (through diet if necessary) in

order to reduce stress on already

weakened muscles. If exercises

are undertaken to increase muscle

strength any build-up should be

done gradually.

22. Can surgery help?

The scapular muscles, which attach

the shoulder blades to the chest, are

often very weak and this leads to

difficulty in lifting the arms. The

operation of scapular fixation

(fixing the shoulder blades to the

ribs at the back) has enabled

some people to regain more use

of their arms. Because prolonged

immobilisation of limbs could

increase the weakness of disused

muscles, combined assessment

from a neurologist and an orthopaedic

surgeon prior to operation is

advised. For people who have troublesome

inflammation of the eyes

as a result of them remaining open

at night, surgery to bring the eyelids

closer can be offered if artificial tears

alone are insufficient.

23. Are anaesthetics a risk?

There is no known risk, but

you should be sure that the

anaesthetist is aware of your

diagnosis prior to operation.

24. Should I declare it on

insurance forms?

Once the diagnosis has been made

you have an obligation to declare

it when requested. As there is no

significant effect on life span, you

should ask you [sic] doctor for a

letter of support if you run into

problems. When applying for a

driving licence, especially HGV or

PSV, this may be issued for a limited

duration, with renewal subject to

18


MD Information

satisfactory medical examination.

25. Finding the best help.

A GP or Consultant can refer

a person with FSHD to a

neuromuscular service, if there is

one in the region. Specialists in

neuromuscular conditions staff these

neuromuscular services. They have

the facilities to provide the most

up-to-date diagnostic information

and also specialised clinics which

children and adults alike will be

able to attend. It is also possible for

families to meet each other there;

families who are having similar

experiences and who can share

similar problems. A neuromuscular

care advisor is often on hand

to help families liaise between the

various professionals e.g. physiotherapists,

occupational therapists,

social workers, teachers etc. Even

if there is no neuromuscular service

nearby there may be a muscle

specialist in the area who will be

able to provide the care needed, or,

further general information as well

as specialist genetic assessment will

be available through the appropriate

Regional Genetic Centre. As FSHD

is a fairly rare condition, and one

about which people have often not

heard, parents of a child with FSHD

and adult with FSHD can feel rather

isolated. However, they will find that

there are many people in similar

positions and some that have already

dealt with situations that they are

encountering. The FSH-MD Support

Group was set up in 1983 specifically

to offer support and guidance to

families and individuals who have

been diagnosed with FSH.

Article available at: https://fsh-group.

org/?page_id=27

Muscular Dystrophy Foundation

of South Africa, Gauteng Branch,

would like to welcome Mr Ngizwe

Mchunu. Mchunu is a well-known

public figure in South Africa,

especially for those who follow

Maskandi and traditional music as

a whole. The Ngizwe Mchunu FM

owner is partnering with MDFSA,

Gauteng, to help raise awareness

about Muscular Dystrophy.

19


MD Information

MYASTHENIA GRAVIS

FACT SHEET

PUBLISHED ONLINE BY

NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

What is myasthenia gravis?

Myasthenia gravis is a chronic autoimmune,

neuromuscular disease

that causes weakness in the skeletal

muscles that worsens after periods of

activity and improves after periods of

rest. These muscles are responsible

for functions involving breathing and

moving parts of the body, including

the arms and legs.

The name myasthenia gravis, which

is Latin and Greek in origin, means

“grave, or serious, muscle weakness.”

There is no known cure, but

with current therapies, most cases of

myasthenia gravis are not as “grave”

as the name implies. Available treatments

can control symptoms and

often allow people to have a relatively

high quality of life. Most individuals

with the condition have a normal life

expectancy.

What are the symptoms of myasthenia

gravis?

The hallmark of myasthenia gravis

is muscle weakness that worsens

after periods of activity and improves

after periods of rest. Certain muscles

such as those that control eye and

eyelid movement, facial expression,

chewing, talking, and swallowing are

often (but not always) involved in the

disorder.

The onset of the disorder may be

sudden, and symptoms often are

not immediately recognized as

myasthenia gravis. The degree of

muscle weakness involved in myasthenia

gravis varies greatly among

individuals.

People with myasthenia gravis may

experience the following symptoms:

• weakness of the eye muscles

(called ocular myasthenia)

• drooping of one or both eyelids

(ptosis)

• blurred or double vision (diplopia)

• a change in facial expression

• difficulty swallowing

• shortness of breath

• impaired speech (dysarthria)

• weakness in the arms, hands,

fingers, legs, and neck.

Sometimes the severe weakness of

myasthenia gravis may cause respiratory

failure, which requires immediate

emergency medical care.

What is a myasthenic crisis?

A myasthenic crisis is a medical emergency

that occurs when the muscles

that control breathing weaken to the

point where individuals require a ventilator

to help them breathe. It may be

triggered by infection, stress, surgery,

or an adverse reaction to medication.

Approximately 15 to 20 percent of

people with myasthenia gravis experience

at least one myasthenic crisis.

However, up to one-half of people

may have no obvious cause for their

myasthenic crisis. Certain medications

have been shown to cause

myasthenia gravis. However, sometimes

these medications may still be

used if it is more important to treat an

underlying condition.

What causes myasthenia gravis?

Antibodies

Myasthenia gravis is an autoimmune

disease, which means the immune

system—which normally protects the

body from foreign organisms—mistakenly

attacks itself.

Myasthenia gravis is caused by an

error in the transmission of nerve

impulses to muscles. It occurs when

normal communication between the

nerve and muscle is interrupted at

the neuromuscular junction—the

20


MD Information

place where nerve cells connect with

the muscles they control.

Neurotransmitters are chemicals

that neurons, or brain cells, use to

communicate information. Normally

when electrical signals or impulses

travel down a motor nerve, the nerve

endings release a neurotransmitter

called acetylcholine that binds to

sites called acetylcholine receptors

on the muscle. The binding of acetylcholine

to its receptor activates

the muscle and causes a muscle

contraction.

In myasthenia gravis, antibodies

(immune proteins produced by the

body’s immune system) block, alter,

or destroy the receptors for acetylcholine

at the neuromuscular junction,

which prevents the muscle

from contracting. This is most often

caused by antibodies to the acetylcholine

receptor itself, but antibodies

to other proteins, such as MuSK

(Muscle-Specific Kinase) protein,

also can impair transmission at the

neuromuscular junction.

The thymus gland

The thymus gland controls immune

function and may be associated with

myasthenia gravis. It grows gradually

until puberty, and then gets smaller

and is replaced by fat. Throughout

childhood, the thymus plays an important

role in the development of the

immune system because it is responsible

for producing T-lymphocytes

or T cells, a specific type of white

blood cell that protects the body from

viruses and infections.

In many adults with myasthenia

gravis, the thymus gland remains

large. People with the disease typically

have clusters of immune cells in

their thymus gland and may develop

thymomas (tumors of the thymus

gland). Thymomas are most often

harmless, but they can become

cancerous. Scientists believe the

thymus gland may give incorrect

instructions to developing immune

cells, ultimately causing the immune

system to attack its own cells and

tissues and produce acetylcholine

receptor antibodies—setting the

stage for the attack on neuromuscular

transmission.

Who gets myasthenia gravis?

Myasthenia gravis affects both men

and women and occurs across all

racial and ethnic groups. It most commonly

impacts young adult women

(under 40) and older men (over 60),

but it can occur at any age, including

childhood. Myasthenia gravis

is not inherited nor is it contagious.

Occasionally, the disease may occur

in more than one member of the

same family.

Although myasthenia gravis is rarely

seen in infants, the fetus may acquire

antibodies from a mother affected

with myasthenia gravis—a condition

called neonatal myasthenia.

Neonatal myasthenia gravis is generally

temporary, and the child’s symptoms

usually disappear within two to

three months after birth. Rarely, children

of a healthy mother may develop

congenital myasthenia. This is not an

autoimmune disorder but is caused

by defective genes that produce

abnormal proteins in the neuromuscular

junction and can cause similar

symptoms to myasthenia gravis.

How is myasthenia gravis

diagnosed?

A doctor may perform or order

several tests to confirm the diagnosis

of myasthenia gravis:

• A physical and neurological

examination. A physician will first

review an individual’s medical

history and conduct a physical

examination. In a neurological

examination, the physician will

check muscle strength and tone,

coordination, sense of touch,

and look for impairment of eye

movements.

• An edrophonium test. This test

uses injections of edrophonium

chloride to briefly relieve weakness

in people with myasthenia

gravis. The drug blocks the breakdown

of acetylcholine and temporarily

increases the levels of acetylcholine

at the neuromuscular junction.

It is usually used to test ocular

muscle weakness.

• A blood test. Most individuals with

myasthenia gravis have abnormally

elevated levels of acetylcholine

receptor antibodies. A second antibody

– called the anti-MuSK antibody

– has been found in about

half of individuals with myasthenia

gravis who do not have acetylcholine

receptor antibodies. A

blood test can also detect this antibody.

However, in some individuals

with myasthenia gravis, neither

of these antibodies is present.

These individuals are said to have

seronegative (negative antibody)

myasthenia.

• Electrodiagnostics. Diagnostic

tests include repetitive nerve stimulation,

which repeatedly stimulates

a person’s nerves with small

pulses of electricity to tire specific

muscles. Muscle fibers in myasthenia

gravis, as well as other neuromuscular

disorders, do not respond

as well to repeated electrical stimulation

compared to muscles from

normal individuals. Single fiber

electromyography (EMG), considered

the most sensitive test

for myasthenia gravis, detects

impaired nerve-to-muscle transmission.

EMG can be very helpful

in diagnosing mild cases of myasthenia

gravis when other tests fail

to demonstrate abnormalities.

• Diagnostic imaging. Diagnostic

imaging of the chest using computed

tomography (CT) or magnetic

resonance imaging (MRI)

may identify the presence of a

thymoma.

• Pulmonary function testing.

Measuring breathing strength can

help predict if respiration may fail

and lead to a myasthenic crisis.

Because weakness is a common

symptom of many other disorders,

the diagnosis of myasthenia gravis is

often missed or delayed (sometimes

up to two years) in people who experience

mild weakness or in those individuals

whose weakness is restricted

to only a few muscles.

21


MD Information

How is myasthenia gravis treated?

Today, myasthenia gravis can generally

be controlled. There are several

therapies available to help reduce

and improve muscle weakness.

• Thymectomy. This operation to

remove the thymus gland (which

often is abnormal in individuals

with myasthenia gravis) can

reduce symptoms and may cure

some people, possibly by rebalancing

the immune system. A NINDSfunded

study found that thymectomy

is helpful both for people

with thymoma and those with no

evidence of the tumors. The clinical

trial followed 126 people with

myasthenia gravis and no visible

thymoma and found that the

surgery reduced muscle weakness

and the need for immunosuppressive

drugs.

• Monoclonal antibody. This treatment

targets the process by which

acetylcholine antibodies injure

the neuromuscular junction. In

2017, the U.S. Food and Drug

Administration approved the use

of eculizumab for the treatment

of generalized myasthenia gravis

in adults who test positive for the

antiacetylcholine receptor (AchR)

antibody.

• Anticholinesterase medications.

Medications to treat the disorder

include anticholinesterase agents

such as mestinon or pyridostigmine,

which slow the breakdown

of acetylcholine at the neuromuscular

junction and thereby improve

neuromuscular transmission and

increase muscle strength.

• Immunosuppressive drugs.

These drugs improve muscle

strength by suppressing the production

of abnormal antibodies.

They include prednisone, azathioprine,

mycophenolate mofetil, and

tacrolimus. The drugs can cause

significant side effects and must be

carefully monitored by a physician.

• Plasmapheresis and intravenous

immunoglobulin. These therapies

may be options in severe cases of

myasthenia gravis. Individuals can

have antibodies in their plasma (a

liquid component in blood) that

attack the neuromuscular junction.

These treatments remove the

destructive antibodies, although

their effectiveness usually only

lasts for a few weeks to months.

o

Plasmapheresis is a procedure

using a machine to remove

harmful antibodies in plasma and

replace them with good plasma

or a plasma substitute.

o Intravenous immunoglobulin

is a highly concentrated injection

of antibodies pooled from many

healthy donors that temporarily

changes the way the immune

system operates. It works by

binding to the antibodies that

cause myasthenia gravis and

removing them from circulation.

What is the prognosis?

With treatment, most individuals with

myasthenia can significantly improve

their muscle weakness and lead

normal or nearly normal lives.

Some cases of myasthenia gravis

may go into remission – either temporarily

or permanently – and muscle

weakness may disappear completely

so that medications can be discontinued.

Stable, long-lasting complete

remissions are the goal of thymectomy

and may occur in about 50

percent of individuals who undergo

this procedure.

What research is being done?

The mission of the National Institute

of Neurological Disorders and

Stroke (NINDS) is to seek fundamental

knowledge about the brain

and nervous system and to use that

knowledge to reduce the burden of

neurological disease. The NINDS is a

component of the National Institutes

of Health (NIH), the leading supporter

of biomedical research in the world.

Although there is no cure for myasthenia

gravis, management of the disorder

has improved over the past 30

years. There is a greater understanding

about the causes, structure and

function of the neuromuscular junction,

the fundamental aspects of the

thymus gland and of autoimmunity.

Technological advances have led to

more timely and accurate diagnosis

of myasthenia gravis and new and

enhanced therapies have improved

treatment options. Researchers are

working to develop better medications,

identify new ways to diagnose

and treat individuals, and improve

treatment options.

Medication

Some people with myasthenia gravis

do not respond favorably to available

treatment options, which usually

include long-term suppression of

the immune system. New drugs are

being tested, either alone or in combination

with existing drug therapies,

to see if they are more effective in

targeting the causes of the disease.

Diagnostics and biomarkers

In addition to developing new medications,

researchers are trying to find

better ways to diagnose and treat

this disorder. For example, NINDSfunded

researchers are exploring the

assembly and function of connections

22


MD Information

between nerves and muscle fibers

to understand the fundamental processes

in neuromuscular development.

This research could reveal

new therapies for neuromuscular diseases

like myasthenia gravis.

Researchers are also exploring

better ways to treat myasthenia

gravis by developing new tools to

diagnose people with undetectable

antibodies and identify potential biomarkers

(signs that can help diagnose

or measure the progression

of a disease) to predict an individual’s

response to immunosuppressive

drugs.

New treatment options

Findings from a recent NINDSsupported

study yielded conclusive

evidence about the benefits

of surgery for individuals without

thymoma, a subject that had been

debated for decades. Researchers

hope that this trial will become a

model for rigorously testing other

treatment options, and that other

studies will continue to examine different

therapies to see if they are

superior to standard care options.

Assistive technologies, such as magnetic

devices, may also help people

with myasthenia gravis to control

some symptoms of the disorder.

Article available at: https://www.

ninds.nih.gov/disorders/patientcaregiver-education/fact-sheets/

Myasthenia-gravis-fact-sheet

A must watch movie!

The Fundamentals of

Caring

Ben is an out-of-work writer in Seattle,

avoiding his estranged wife’s attempts to

serve him with divorce papers. He takes a

six-week course to become a registered

caregiver and is hired by Elsa, a bank office

manager from England, to care for her

18-year-old son Trevor, who has Duchenne

Muscular Dystrophy.

Not suitable for younger viewers – Ed.

23


TRAVEL

Rocherpan reloaded

Six years ago I was fortunate enough to participate in

the opening of Cape Nature's new wheelchair accessible

bungalows at Rocherpan Nature Reserve up the

Cape West Coast. We returned not long after for yet

another enjoyable visit. In September this year, following

the extreme lockdown period, we decided to plan

our first "escape" into the now scary outside world and

chose Rocherpan as the closest and least threatening

wildlife option within driving distance of Cape Town. It

would give us the opportunity of seeing, firstly, how we

could handle COVID-regulated travel, and secondly,

how the wheelchair accessibility had fared since our

last visit.

Rocherpan borders the sea, about 25 km north of Velddrif,

occupying an area of 1 080 ha. “In 1839, Pierre Rocher

dredged the mouth of the Papkuils River and used

water drawn from the Auroraberg Mountains to make

better pasture for his cattle behind the dunes. In the

process, he unwittingly established ideal bird habitat”,

states Wikipedia. During the Cape rainy season the lagoon

fills an area of 110 ha and is around 6 km long. After

an extended summer during 2020 the rains arrived

in July and August offering the promise of abundance

birdlife in the reserve: 183 species of birds (including

70 of waterfowl) can be found here, including pelicans,

oystercatchers, shovelers, terns and flamingoes. There

are three bird hides, one of which has been specifically

designed and constructed for wheelchair users.

The lake was declared a nature reserve in 1966, followed

in 1988 by the coastal area being declared a

marine reserve. The beach is untouched, pristine and

unpolluted and stretches for miles north and south, its

24


TRAVEL

profile interrupted only by large flocks of seabirds resting

on the shoreline. The little road leading to the beach

also happens to feature what is arguably the most scenic

wheelchair accessible parking bay one is ever likely

to make use of! There are a number of walking trails

through the bush, and if one is so able they make for a

pleasant morning or afternoon stroll.

In the spring, which fitted in perfectly with our visit, the

veld features the famous Namaqualand bloom, infusing

the bush with a range of vivid colours. It all makes

for a very pleasant experience. None of the drama of

big game or predator viewing, but sometimes one looks

for a change of scenery and tranquillity, and Rocherpan

certainly offers both.

In 2015 Cape Nature decided to build four new chalets

at their Rocherpan reserve and took the somewhat

revolutionary decision to make all four of them fully

wheelchair accessible. These have stood the test of

time rather well and they still rank amongst the most

genuinely accessible units we have encountered in our

travels. This durability is largely due to the unusual construction

and use of simple, low maintenance materials

combined with a minimalist decor. The floor is entirely

polished concrete, the walls of galvanised corrugated

iron, the windows aluminium, and the exterior decking

and boardwalks all of durable wood construction.

The bathroom is spacious, with a full-sized roll-in shower,

a handbasin with accessible taps, and an accessible

self-composting toilet in keeping with the reserve’s sustainability

requirements. The open plan kitchen has everything

you need to keep yourself well fed and watered

(stove, oven, microwave, fridge) together with an exterior

braai area on a great big wooden deck. A network of

slightly elevated boardwalks links the chalets with each

other and the administration and parking areas. Everything

is on one level.

We were quite impressed with their commitment to sanitation

and hygiene during this COVID pandemic. On the

morning of our departure, by the time we had reached

our car, a gentleman in a full hazmat suit, armed with a

backpack container and pressurised spray, had already

collected the chalet key and was about to set to work

erasing all evidence of our stay! A year ago it would

have been a strange sight, but in September we found

it reassuring.

Cape Nature have a real gem here, and I would certainly

recommend that anyone wishing to enjoy the West

Coast scenery, the abundant birdlife, and the peace and

quiet of a nature reserve should add it to their list of

places to visit.

Resources

CapeNature. ©2021. Rocherpan Nature Reserve.

http://www.capenature.co.za/reserves/rocherpan-nature-reserve/

Wikipedia. 2019. Rocherpan Nature Reserve. Last edited

6 November 2019. https://en.wikipedia.org/wiki/Rocherpan_Nature_Reserve

25


PEOPLE

Rare diseases day 2021

Rare Disease Day takes place on the last day of

February each year. The first Rare Disease Day

was celebrated in 2008 on 29 February, a “rare”

date that happens only once every four years.

Ever since then, Rare Disease Day has taken place

on the last day of February, a month known for

having a “rare” number of days.

The main objective of Rare Disease Day is to raise

awareness about rare diseases and their impact

on people’s lives. Muscular dystrophy is one such

rare disease.

Muscular dystrophy is a group of diseases that

cause progressive weakness and loss of muscle

mass. In muscular dystrophy, “abnormal” genes

(mutations) interfere with the production of

proteins needed to form healthy muscle. There

are many kinds of muscular dystrophy. Symptoms

of the most common variety begin in childhood.

Other types don’t surface until adulthood. These

disorders affect children and adults of every race.

The disease is usually inherited, with the defective

gene being passed on from one generation to

the next. To date there is no cure available for

muscular dystrophy.

Doné and Hanti is but one of the parents with a

child diagnosed with Muscular Dystrophy. Their

5-year old son, Lian, was diagnosed with of

LMNA-related congenital muscular dystrophy

when he was only a couple of months old. LMNA-

CMD is predominately congenital and on the

severe end of the spectrum. Affected individuals

have weak neck and axil muscles, can develop

“dropped head” syndrome and may not achieve

sitting. Contractures of the, spine, hips, knees and

Achilles tendons are involved. Scoliosis and spine

rigidity can develop. Some affected individuals

can achieve walking but will lose that ability later.

Respiratory insufficiencies develop requiring

intervention. Cardiac conduction abnormalities

can occur.

Doné and Hanti explains that “Small things that

come with no effort for us are a huge challenge to

him, like simply lifting his arms. However, none of

these challenges can dampen the brave and joyful

spirit of this young boy. No matter what challenges

Lian faces he always has a smile on his face. He is

a little “chatterbox” who amuses everyone with his

humour and cute personality. He absolutely loves

driving around in his power wheelchair, chasing

his brother and sister around the house. He gets

excited about everything and is always ready for

whatever life throws at him.

If you wonder if there is any joy in raising a child

with special needs? The answer is ABSOLUTELY

YES! We never thought that a small boy of only

five years old could teach us so much about life

and inspire others. Raising Lian opened our eyes

to a world we never would have experienced

otherwise. It teaches you more about patience,

unconditional love, hope and grace. You get a

different perspective on what matters in life. You

suddenly realize that time is a precious gift and

you never know when things might change. You

recognize the significance of the small things in

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

“wheelchair chase” around the house or in the

excitement of reaching another milestone – not to

mention the witty comments only special needs

parents would understand.”

For more information about muscular dystrophy

please contact the Muscular Dystrophy Foundation

of South Africa or visit our website at www.mdsa.

org.za.

Your support means hope.

26


PEOPLE

VOICE FROM THE WHEELCHAIR

By Rothea Louw

The frustrations of wheelchair users are generally the same. Let’s sit back and sigh together about

some of the old classic ones!

Dirtying your hands: When you take to the streets or sidewalks in a manual wheelchair on your way

to work or an appointment, you usually arrive with dirty hands and nails, and there might not be

enough time to clean them before the meeting starts. This can be followed up by blisters. Although

you sit in a chair and look like the typical office nerd, your hands feel like those of a manual

labourer or farmer.

Being the elephant in the room: Yes, you are the person sitting in the wheelchair in the corner. At

any function or get-together people prefer speaking to the one assisting or accompanying you and

not to you directly. The conversation commences as if you cannot hear or speak in person. You just

become invisible.

Entering a lift: The lift opens and you hasten towards it. The occupants move aside politely to let

you in but don’t press the hold button. The door then closes in front of you, and you have to wait

patiently for the next one as if you have no time schedule.

Coping with unavailable parking: At shopping centres you find that the parking bays allocated for

people with disabilities are all occupied, often by mothers with prams and babies. By now we all

know that these parking spots are closest to the shopping centre for people who are in the greatest

hurry! So you have to try getting out of your car and safely onto your wheelchair while still in the

traffic lane, and the motorist behind you starts hooting….

Coping with public toilet doors: Getting through public toilet doors with a wheelchair is the ultimate

challenge. Pushing the door open while you are in your chair and trying to move forward is a trial.

The doors of these toilets are designed to close by means of heavy-duty hydraulic door closers.

And that is what they do best –keep you out. You’d need to have a very thin person inside the

restroom to keep the door open for you to squeeze through. If you are alone you can get stuck

between the door and the doorframe. If “door shoving” were registered as an Olympic sport, you’d

be well qualified to compete!

Keep rolling till we bump again….

27


PEOPLE

Luca Buccella – we are the

makers of our future

Published online by Duchenne UK

To tell everybody that even the ‘less fortunate’ can have

a full life.

In many charity campaigns – at least in Italy, I don't

know if it's the same in the United States – we hear the

expression ‘less fortunate than us’ referring to disabled

people. Well, I feel I'm fortunate, or lucky, in many fields.

And then, is there such a thing as fortune? Actually,

fortune is useless without a strong will. But with your

will, fortune becomes mere clay, that you can reshape

and transform with your bare hands, just as you wish.

We must be the first to consider ourselves as the

normal people we are: the revolution must start within

us. But it's not because of our disability that we must

take things for granted: we must earn our chances,

nothing's free, we have the same rights and duties of

every other human being.

Our bodies are handicapped, not our souls: DMD

doesn't determine the people we are, it doesn't make

us better or worse than anyone else. But it's a part

of ourselves that we must learn to live with. It doesn't

represent what we are, but it may be considered as a

friend, sometimes annoying, with whom we must learn

to coexist despite the fights. It's not a part of ourselves,

but it compenetrates us, and, if lived positively, can

even make us better people.

Luca was born in Rome on December 14, 1990. After

graduating from high school, he studied at Roma Tre

University. In 2013, he earned a Bachelor’s degree in

Cinema & Television Arts. After collaborating as a film

critic for various Italian websites, he founded his own

online magazine, Rosebuddies.it. Currently, he works

as a translator of press releases for The Walt Disney

Company Italia. He also wrote and co-directed three

comedies (“Bar West”, “The Accidental Vampire” and “A

Day at the Thermae”) for an amateur theatre company

that every year performs a show for the benefit of

Parent Project Italy.

Below is Luca's inspirational speech that he gave at the

PPMD Conference at Fort Lauderdale on 30.06.2012:

"Hello everybody, my name is Luca Buccella, I am

twenty-one, and I'm here to tell all the boys with DMD

and their parents, that a future is there. And I can say

that honestly, because the future that I have started

planning when I was eight has now become my present.

Just remember that it's not the disease that makes us

better, but the way we face it. We must never think

that our disability makes us better than others, or

even special. We are unique, but that's just like every

other human being. We don't want to be seen as pure

spirits, light bearers with our soul tempered by years of

sacrifices: our disease doesn't determine our future, we

have to do it. We can be anything we want to be, if we

convince ourselves. And to become the people we want

to be, it is essential to start planning our future.

And on this specific aspect, I'd like to address myself

particularly to parents. You are the first who must raise

your children giving them a certainty that a future

does exist, and so it must be planned and considered.

Because just like everyone else on planet Earth,

since the very beginning you must start to build the

foundations on which to construct your future.

I've seen far too many people giving up, thinking there

was no future for their kids, that they would never

28


PEOPLE

reach a certain age. But I believe that this is something

you can say for any individual, because no one has

the certainty of what's going to happen tomorrow.

Abandoning every hope, convinced that there is no

future for DMD patients, would be like stopping to drink

and eat, because eventually life is going to end and

nothing can change that. Whereas life must be planned,

dreams must be pursued, and human relations must be

cherished, no matter what. Because otherwise, at the

age of twenty, you find yourself with no passions, no

interests, no love: and so, you don't have a present.

I owe my parents the fact that I've never felt different:

so, as they did, allow your children to take risks, to fail

sometimes, to savour life in every aspect good or bad.

You'll see the results, and your kids will be grateful. Just

remember that first we must realize that we're normal

and we can have a full life, than [sic] we can show it to

the world. You cannot live your life hoping in a miracle,

in a prodigious remedy that is going to fix everything.

In this last few years, research has taken a giant leap

forward, trials on man has started, showing that maybe

a cure is not so far away. But what would happen if

you spent your whole life just waiting for a cure that will

finally allow you to live what society calls ‘a normal life’,

it [sic] the treatment doesn't reach you in good time?

You would have lost a life just waiting, not living. You

must become aware of the fact that you can live a full,

happy, satisfactory and meaningful life, that maybe our

disease isn't all bad after all.

We must try and embrace our condition, and then we

can start to see upsides. Believe me, they are just as

many as the downsides. As my friend Pat Moeschen

likes to say ‘Membership has its privileges’. And so,

we have reserved parking, we don't have to queue at

amusement parks, movie tickets are less expensive.

In my country, people think twice before insulting you

in your face. And if they do so, we can ‘wheel’ them

down! And, in a relationship, a disabled person has

the absolute certainty that the person with whom he's

involved, really loves him for what he is.

Once we have learned that our disability is not an

obstacle in the pursuit of happiness, if the cure were

to arrive, it would still be great. But if this weren't to

happen, it would not be a problem. Because we had

understood that we are, and always be, the makers of

our future.

Thank you."

Article available at: https://www.duchenneuk.org/lucabuccella

WCMX (wheelchairs can’t

make an X-split?)

By Rothea Louw

BMX is a well-known sport and

phenomenon.

Every street in every town has at

least one prospective Mat Hoffman

riding and jumping up and down

over the pavements. It was only

of late that I learnt that BMX is the

abbreviation of bicycle motocross.

It is not just a name like Giant or

Trek bicycles.

Aaron “Wheelz” Fotheringham is the

name of one of these prospective

riders. The difference is that he

does not ride a bicycle. He flies by

wheelchair and competes against

BMX riders on the international

stage.

Aaron comes from Las Vegas and

lives in the United States. He has

spina bifida but no fear. He started

using a wheelchair at the age of

eight (8) after he lost the ability to

use his legs.

It was during this time that his

brother, who was an avid skater,

motivated Aaron to get on his chair

and try to skate along. With his

wheelchair and his mom cheering

him on, he changed the concept

of wheelchairs forever. On open

stages he did back flips and front

flips. He fell more on landings than

he succeeded, but he persevered.

He calls his sport and the magic that

he does “wheelchair motocross”, or

WCMX.

A famous saying of Aaron is:

“I am on a wheelchair, not in a

wheelchair.” Another is from an

interview, when he commented: “It

is a wheelchair, not a prison.”

Although that attitude is easier

to state than to put into practice,

it is still an inspiration for many

wheelchair users.

Click on the following link to

take a flip and a fall with Aaron:

https://www.youtube.com/

watch?v=UQuBzShOFew

29


PEOPLE

Two dudes, one goal: podcast hosts Kyle

Bryant and Sean Baumstark envision (then

live) life beyond circumstances

By Lindsey Baker

Published online by the Muscular Dystrophy Association

Sean Baumstark was 25 when he was diagnosed

with Friedrich’s [sic] ataxia, a neuromuscular

disease that affects the nervous system and heart

and causes muscle weakness and ataxia, a loss of

balance and coordination.

“During my diagnosis,” Sean says, “the geneticist

started talking about support groups and

encouraging that I come to grips with what I was

up against. And in that moment, although I believe

in support groups and I certainly don’t take things

for granted, in that season of my life, I simply

said, ‘Thank you, let’s move the conversation on’

because I didn’t see a need for that in that moment.

I realized that, sure, down the road that might be

necessary. But in that moment, that didn’t connect

with me.”

But Sean still wanted to learn about FA, any

research being done toward finding treatments.

He did want to know he wasn’t ‒ as he felt ‒ the

only one out there.

That’s when he found Kyle Bryant’s name.

“I left that appointment,” Sean says, “and that

night I was online, and it was in that searching

that I found Kyle’s name. He was mentioned a lot

in my local news. I thought, ‘Why is my local news

talking about this guy?’”

Kyle, who also has FA, lived in the same city as

Sean. He’d completed a cross-country bike ride

a few months prior to Sean’s search. Same age,

same diagnosis.

“I thought, ‘OK, this guy’s my new best friend,’

Sean says. “I gotta figure out what this is all

about, what we’re gonna do about it. We’ve got a

mountain to climb here. Let’s do it.”

Kyle Bryant (left) and Sean Baumstark (right).

[Image description: Kyle Bryant and Sean

Baumstark laugh behind two microphones.

Kyle is a white man with dark brown hair

and a blue T-shirt that says “I (image of

headphones) 2DD.” Sean is a white man with

blonde hair and is wearing the same T-shirt

as Kyle.]

So he hunted down Kyle’s contact information.

The two agreed to meet for lunch. And that lunch

turned into a friendship ‒ and a podcast ‒ that

now spans coast to coast. On Two Disabled Dudes,

Sean and Kyle talk to each other, and with guests

living and working in the neuromuscular disease

community, about, as they put it, “setting sights

beyond the challenges in life and dreaming big,

making a plan, and then executing like mad.” The

conversation often gets personal ‒ sometimes,

Sean and Kyle discover new things about each

other, and themselves, in the course of an episode.

As Two Disabled Dudes enters its fourth season,

30


PEOPLE

the dudes sat down to talk about how FA affects

their lives ‒ and helps to create some of those big

dreams.

Could you both share a little bit about each of

your journeys with FA?

Kyle: I was diagnosed when I was 17. Sean and I

are both 38 right now. So, I was 17, and it came

out of the blue. The first thing [for my family to

do] was find out as much as we could. And we

found out some things were not very positive.

So we were like, “All right, if that’s gonna be the

future, then we better get to livin’.” It took almost

10 years, but I figured out I wanted to do a crosscountry

bike ride from San Diego to Memphis. In

2007, my dad rode with me, and my mom drove

our support vehicle. And we stayed together every

single night for 58 days. And you would think ‒

like, we’re family ‒ you would think there would

be some conflicts, but they quickly got squashed

because we were so focused on the end goal, on

improving our lives, proving to ourselves that we

can make an impact in the world, and hopefully

helping other people.

Sean: I work for a small grocery retailer in Northern

California. We have 15 stores, and I help with the

onboarding orientation process of all of our new

hires. The job itself, or the condition of FA, can

be challenging, in that it’s hard to walk. Can’t

really run fast. I can’t do anything fast. I can’t talk

fast. I have a hard time writing or doing anything

with any type of intentional control. It can be very

exhausting trying to focus on the day-to-day

activities of my job. And not that my job is hard or

challenging, but just, that’s the major part of what

I do every day, so that’s the context I’m speaking

in.

We did two more bike rides the next two years.

In 2009, I came on staff at the Friedreich’s Ataxia

Research Alliance, and we began to build a series

of bike rides all around the country. And then

in 2010, we put together a team for the World’s

Toughest Bike Race, a race from San Diego to

Annapolis, Md. That was one of the huge projects

Sean and I worked together. We were both on that

team.

Sean: My personal journey backs way up. I was 25

when I was diagnosed, so much later onset than

most. And unlike Kyle, what kind of pushed me

to the doctor was fatigue. FA is just an energydepriving

sort of condition. The diagnosis certainly

provided answers to a lot of things, especially why

I was tired all the time and why I couldn’t walk a

straight line. I would bump into walls or people.

That diagnosis certainly helped put a few things

in perspective.

Shortly after that, Kyle and I met, and that’s

when we began to put our heads together and do

things, like riding. Like Kyle said, if we’re going

to be limited to a chair or even die young, then

we have a lot of work to do in a very short period

of time. Throughout the years, that’s really what

helped us build a friendship and a commitment to

doing whatever we could along the way, in spite of

the limitations that our disease said we should be

experiencing or that we will experience someday.

How do your diagnoses affect your life day to day?

It has definitely caused me to carefully plan ahead.

I’ve got to plan my rest schedule every week so

that I’m refreshed every day that I go to work and

able to perform the duties of my job.

Kyle: For me, day to day, I think that somebody

who’s able-bodied and doesn’t know the world

of disability, they would be like, “Dude, you’re so

limited.” But I certainly do not think of it that way.

Like, OK, fine, I have a grab bar next to my toilet,

and I use a wheelchair. But I don’t think every

time I use the grab bar, “I wish I didn’t have to use

this thing.” It’s a tool that I personally need. I am

different from everyone else, just like everyone is

different from each other, and I need these tools

31


PEOPLE

to get done the things that I want to do. I drive

with hand controls. I ride a trike with three wheels

instead of a bike, but I can outride … not everyone

I know, but I feel pretty powerful on my trike.

Like Sean, I have a full-time job. And people are

counting on me to be there, and it feels good to be

counted on, right? Maybe that’s a lot of what work

is, you know? We’re needed, and so I don’t think

that … at a fundamental level, I don’t think I’m any

different than someone who’s able-bodied. We get

to the same things in life in different ways. And,

you know, we all want and need certain things out

of life, and it’s just a matter of figuring out how

to get there.

talking about life and things he cares about and

why this is impacting him so heavily, and I was

like, “You know what? We need to talk about that

stuff all the time. Let’s record it, and other people

might find value in it as well.”

Did you know anybody else with FA before you

met each other?

Kyle: I had met other people with FA, but I had

never met anyone who was thinking the way Sean

does, thinking big and thinking about what we

could do with FA. When Sean and I sat down for

lunch the first time, we were talking about the

potential of our situation, not how much of a

deficit we’re at compared to other people. And I

think that was one of the big reasons that we’re

still friends and doing things together, because

we try and think big about possibilities.

Sean: When I reached out to Kyle, it was definitely

a matter of, “Hey, tell me what I’m up against, what

you’re experiencing,” but also, “let’s talk about

what we can do.” And it was our first meeting

where he talked a little bit about the bike ride that

he had just done with his parents. And then we

decided to meet up again about two weeks later,

and it was in that meeting that Kyle was talking

about doing another bike ride. And I said, “I’m in.

What do I need to do?”

There are moments where, sure, I wish things were

different. I wish I was faster. I wish I could run.

But at the end of the day, that’s just me coming

to terms with it and me grieving the life I used

to hope for. That is not me being ruled by that

grief or ruled by that devastation or ruled by that

disappointment. That’s just a part of that process.

I definitely believe there’s a lot of life to be lived,

and I’m happy to live it. I’ve got work to do.

How did you guys decide to start the podcast?

Sean: That was all Kyle.

Kyle: So when we did Race Across America

together from San Diego to Annapolis, there was

a documentary crew with us the entire time, and

they made a really great documentary. Sean has

a few really great monologues in the film, just

Sean (left) and Kyle.

[Image description: Sean and Kyle wear

helmets and sunglasses as they sit on racing

trikes on a mountain path.]

Sean: You know, not to pat ourselves on the back,

but one thing I loved about even just the way he

put it ‒ “Hey, I have an idea. Let’s do a podcast.”

And the response was, “OK, let’s do it.” When we

did a ride, I didn’t own a bike. When we started a

podcast, neither one of us had any clue where to

start, what to do, or how to do it. We’re on opposite

sides of the country now. I’m in California. He’s

in Pennsylvania. But I think a testament of Kyle’s

and many others is, OK, sure, there’s gonna be

a challenge, but the overall message needs to be

explored so let’s just figure out those challenges

and find a way to make it happen. And even though

we didn’t know what we were doing, here we are

almost four years later, and we’ve got a pretty

strong following that we are certainly proud of.

How does the podcast come together with you

guys in such different time zones? How do you

choose the topics and bring it together?

Sean: Originally, once Kyle and I decided to move

forward, we had reached out to a friend of ours,

also with FA, who had a career in audio production

for concerts, to help us with editing. Kyle and I

will talk to each other via Zoom or Skype or some

sort of live platform. And individually, we’ll record

our own tracks. Then we put those two tracks

together, and hopefully it sounds just as fluid

for our listeners as it does for us. Currently, our

editing is mostly just Kyle and I.

32


PEOPLE

Kyle: The topics are really whatever Sean and I

are thinking about and what happens in our lives.

Maybe there’s some topics that are coming to the

forefront for us lately. We also interview some

really incredible people, and that has turned into a

source of great conversation. Sometimes, we just

sit down and turn on the mikes and go.

Sean: I think to speak to that, one of my favorite

episodes is No. 114. Kyle had a story to share that

he hadn’t shared with me before, so we knew that

there would be an organic conversation, maybe

five to 10 minutes. I think we both kind of expected

to share this story, maybe rant and rave a little

bit, and move on. But in that moment, it turned

into a 25- or 30-minute conversation that I think

challenged both of us to rethink how we approach

our own lives or how we approach strangers. And

it’s that willingness and flexibility to be vulnerable,

even though we’re being recorded.

Why is vulnerability important? What’s the benefit

of learning how to be vulnerable in conversation?

Kyle: I feel like the value of vulnerability is super

fundamental because what are we doing here if

we’re just gonna be fake? It’s up to us to put our

real selves out there, with all our flaws, or else

we’re putting on a show that’s not even who we

are. Sometimes we get to a very vulnerable place

in our podcasts, and I value it personally because

it’s an outlet where I can feel comfortable being

vulnerable. Holy cow, that’s kind of a weird

concept. You know, all these people are listening

to our conversation, but between me and Sean, we

feel comfortable having a vulnerable conversation.

And it makes me feel good to have that outlet,

because I don’t always feel comfortable sharing

my full self.

Sean: I think, too, to add to that, vulnerability

is where other people, whether they know us or

not, connect with us or connect with a message

of hope. When we pass by the magazine rack at

the grocery store or we’re scrolling Instagram, it’s

easy to think everybody else has their lives figured

out. But I think we all know that no matter who

they are, what their celebrity or financial status

is, everybody’s got bad days. Everybody’s got

hardships. And when you’re willing to talk openly

and be vulnerable in a space that allows that, I

think that’s what allows people to connect with

you and the overall message. And it allows them

to take some ownership over the hard stuff in their

life and gives them a little bit of hope that, OK,

although this is hard, it’s not the end of the world.

If Kyle wouldn’t have been willing to meet me or

would [sic] have been willing to be honest and

vulnerable, what would the last 10 years have

looked like for me? Or for him? Or for us together?

Or for the podcast? Or for the film that we’re a part

of? All these different things probably wouldn’t

have come to pass, which means we wouldn’t have

met people all over the world.

Why is it important to talk about rare diseases and

our experiences?

Sean: Because it’s rare disease, it’s easy, and I

think even automatic, to feel alone, to feel like

you’re the only person who understands, who

knows this, who is dealing with it. But I also think

that’s true in the world of pain. My dad fought

cancer for five years before he passed away. There

were plenty of moments where he felt like he was

the only one in the world up against the mountains

he was up against. And whether you’re talking rare

disease or something more common, it’s in those

moments of talking about it and connecting with

others that you realize you’re not by yourself, that

there are other people in your corner, that there

are other people who are cheering you on. There

are other people willing to cry with you and laugh

with you and plenty of other people that are also

willing to triumph with you and celebrate the wins,

big or small.

What do you hope listeners get from the podcast?

Kyle: The way I think of it is, like, OK, there’s a

17-year-old boy and he was diagnosed with FA,

Charcot-Marie-Tooth disease, any of these things,

and he’s nervous to talk about it with his parents,

with his friends, with his teachers, everyone. But

he can go in his room, put on his headphones, and

relate to somebody with a rare disease in his own

world, in his own mind. And if he can be a fly on

the wall for a vulnerable conversation that Sean

and I are having, maybe that’s valuable.

Sean: Yeah. I would second that.

Check out the Two Disabled Dudes podcast on

Apple Podcasts, Stitcher, Spotify, or wherever you

listen to podcasts. The dudes’ [sic] are especially

excited about episode 118 of the new season,

featuring Google’s Project Euphonia, designed to

retrain smart devices to understand people with

different ways of speaking.

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

two-dudes-one-goal-podcast-hosts-kylebryant-and-sean-baumstark-envision-then-livelife-beyond-circumstances/

33


Sandra’s thoughts

on wearing masks

By Sandra Bredell (MSW)

In this “new normal” time of our lives, we need to adhere

to certain COVID-19 regulations, regardless of the level

of lockdown. To suppress transmission and save lives,

a list of mandatory regulations has been put together.

We all know them by now:

• Physical distancing

• Avoiding crowded, closed and close-contact settings

and environments

• Having good ventilation

• Washing your hands with soap and water for at least

20 seconds and sanitising them with a hand sanitiser

containing at least 70% alcohol

• Wearing a mask in public and even inside your home

if someone you live with is sick with symptoms of

COVID-19 or has tested positive for COVID-19

Wearing a mask is part of a comprehensive strategy.

But wearing a mask on its own without adhering to the

other precautions is simply not sufficient. You must wear

the mask and do all the other required actions if you

want to keep yourself and others safe from the virus. It

is important to realise that both pre-symptomatic and

asymptomatic transmissions are quite common, as

studies have revealed that viral load peaks before the

symptoms are present and that when speaking you can

expel virus-carrying droplets.

Another important aspect to keep in mind is that you

need to wear the mask correctly. The Centers for Disease

Control and Prevention (2021) has determined that a

face mask must comply with the following requirements

in order to be effective:

• Cover both your nose and mouth

• Fit snugly but comfortably against the sides of the face

• Be secured with ties or ear loops

• Have multiple layers of fabric

• Allow for unrestricted breathing

• Be able to be laundered and machine dried without

damage or shape changes

As much as wearing a mask is important and beneficial,

it also has a few side-effects or consequences:

• It provides people with a false sense of security and

affects the way they adhere to the other requirements

of wearing a mask.

• Inappropriate use of a mask defeats the purpose of

wearing it in the first place.

• People tend to move closer to one another to hear

more clearly what they are saying, as their speech is

less audible through their masks.

In addition, research has provided evidence to show

that prolonged use of surgical masks can lead to skin

problems and possible headaches. Suggested solutions

are to improve hydration and rest and to have a proper

skin care routine. A further challenge is that a large part

of communication (55%) is non-verbal, including facial

expressions. When wearing masks, people tend to rely

more on eye contact to show their feelings and convey

empathy and understanding. Mheidly, Fares, Zalzale

and Fares (2020) provide a few suggestions to enhance

communication when wearing a mask:

• Focus more on the upper face through the eyebrows,

eyes and upper cheeks during interpersonal

communication. See how Mheidly et al. (2020) illustrate

this.

• Pay more attention to non-verbal communication such

as body language and hand gestures.

• Talk more loudly and slowly to counteract the muffling

of sound caused by wearing a face mask.

34


Against this backdrop, how do we communicate

effectively while wearing a mask? SMILE! Yes, smile

behind that mask. A person’s smile is immensely

powerful. People do not necessarily have to see your

lips showing your teeth when smiling. You can still

boost someone’s mood, show empathy and calm an

anxious friend while wearing your mask. According to

researchers the Duchenne smile is among the most

distinguished human utterance. What is a Duchenne

smile? Simply, to smile with your eyes. It is a smile

that reaches the eyes, showing crow’s feet at the outer

corners of the eyes. It is a sincere gesture to express

joy and to bring joy to others.

Thank you

The Muscular Dystrophy Foundation of SA would like

to thank Radio sonder Grense, Lotus FM and Radio

786 for raising awareness about muscular dystrophy.

So, smile, wear your mask, take care and be safe!

References

Bai, N. 2020. Still confused about masks? Here’s the

science behind how face masks prevent coronavirus.

June 26; updated July 11. University of California San

Francisco. https://www.ucsf.edu/news/2020/06/417906/

still-confused-about-masks-heres-science-behind-howface-masks-prevent

Centers for Disease Control and Prevention. 2021.

Guidance for wearing masks: help slow the spread

of COVID-19. Updated Feb. 18. https://www.cdc.gov/

coronavirus/2019-ncov/prevent-getting-sick/cloth-facecover-guidance.html

Lazzarino, A.I., Steptoe, A., Hamer, M. and Michie,

S. 2020. Covid-19: important potential side effects of

wearing face masks that we should bear in mind. April

20. The BMJ. https://www.bmj.com/content/369/bmj.

m1435/rr-40

Mheidly, N., Fares, M.Y., Zalzale, H. and Fares, J. 2020.

Effect of face masks on interpersonal communication

during the COVID-19 pandemic. Frontiers in Public

Health, 8, December 9. https://doi.org/10.3389/

fpubh.2020.582191

Rosna, E. 2020. Adverse effects of prolonged mask

use among healthcare professionals during COVID-19.

Journal of Infectious Diseases and Epidemiology,

6:130. https://clinmedjournals.org/articles/jide/journalof-infectious-diseases-and-epidemiology-jide-6-130.

php?jid=jide

35


LIFE IN THE TIMES OF COVID

It's easy to write. The hard part is

knowing what to say....

Groundhog Day is a 1993 comedy film starring

Bill Murray and Andie MacDowell. Murray portrays

a cynical television weatherman covering the

annual Groundhog Day event in Punxsutawney,

Pennsylvania, who becomes trapped in a time

loop forcing him to relive February 2 repeatedly. I

can't help thinking that the last year of lockdown

and isolation has been like one long, very long,

Groundhog Day for many of us. With a limited

palette of things to do, not many places to go,

and strictly speaking no one to see, each day

has rolled into the next with very little difference

in our activity other than to fine-tune the few

options we have had available.

We are surviving lockdown

… just!

Since my wife and I are both considered

vulnerable, the protocols have been followed

quite closely and our exposure to others limited

as much as possible, with the only exception

being necessary shopping. Even that has been

controlled noticeably by supporting local traders

on a strictly one-to-one basis and keeping visits

to the shopping mall to an absolute minimum.

No window shopping, no browsing; just quickly

in and out using a prepared list, followed by a

good scrubdown!

36


It's the bits in between that are

of concern.

We miss not being able to plan. We miss friends

face to face. We miss meals out. We don't enjoy

that everyday activities have become risky

undertakings.

We are attempting to keep ourselves sane by

getting out as often as possible. As one friend so

succinctly put it, "we need to stop our brains from

turning into mush!" Our solution involves packing

a picnic lunch and a flask of coffee and heading to

a beach of our choice. We do not leave the vehicle,

and we interact with no one. We do however have

a very neat folding, genuine plastic table that can

sit in front of the dashboard, holding our eats and

drinks. It's all very civilised; no need to rough it

during the times of COVID. Fortunately we live

near a coastline and have seven beaches in fairly

close proximity where we can sit in the car and

still enjoy a view of the ocean. These include our

local Noordhoek, Muizenberg @ Surfers Corner,

Fish Hoek, Glencairn, Simon's Town, Miller’s Point,

and Scarborough if we want to venture further

afield. Plenty of choices. The change of scenery,

the ocean waves, and the beach activities of the

more adventurous citizenry make for a pleasant

break.

We have found the Simon's Town beach (Long

Beach) to be the most enjoyable in terms of the

amount of activity there – numerous amateur

fishermen launching the tiniest craft (little more

than bathtubs with a food blender bolted onto one

end), yachts, canoes, pedalboards, rubber ducks,

kneeboards, kayaks, Hobie Cats, boardsails,

airfoils, etc, etc. Never a dull moment.

In November we managed a brief getaway up to the

Addo Elephant National Park. It was really relaxing

in the park but quite stressful during the journey

up and down. Whilst we were in the park it was

only the two of us that we needed to be concerned

about. No interaction with anyone else. We even

put a “do not disturb” sign on the door to keep

the service staff away. Our only meeting with a

park staff member was at reception on our arrival

when we handed over our reservation form. When

we departed eight days later we simply dropped

the key off in the appropriate box at the gate and

drove out into the big bad civilised world and back

to the times of COVID. That was it.

We fully self-catered for the entire journey, taking

with us all the meals and beverages we would

require. All of our meals were pre-prepared and

then frozen, to see us through the entire time that

we were away. This meant that once we left home

we did not have to interact with anyone else with

regard to food matters. The same with drinks ‒

we took everything with us and bought nothing

on the way. The result was that we resembled a

mobile food store, but at least we knew we were

independent of anyone else. It involved more

planning, more packing, more unpacking, more

cooler boxes, less space in the car, but this needed

to be done if we were to achieve a level of safety.

The rest of the journey involved staying over at

a B&B, which required some additional planning

and confirmation that they followed the necessary

sanitary protocols, but with suitable assurances

we minimised any potential risks. Even then it

involved a great deal of social distancing, mask

wearing, sanitising, wiping down of surfaces,

handles, taps, etc. At stages during this process

we found ourselves stopping and wondering if all

this was some sort of paranoia. But such are the

times of COVID. We are right in this thing, it is very

real, we have lost friends to COVID and we need

to practise behaviour that would previously have

been unthinkable.

We are scheduled to visit the Kgalagadi in a couple

of weeks. The same scenario will apply as for the

Addo trip. In the park we will need to be concerned

only about the two of us (and maybe a couple of

lion and leopard and an overly friendly ground

squirrel). We are fortunate to have escaped a small

crisis before our departure. As you know, until very

recently one could not buy or transport alcohol.

This could have posed a problem for our journey,

because I had only two bottles of beer left in the

fridge and will need at least three dozen beers

for the trip. (When temperatures in the Kgalagadi

reach 40 °C or more, it will be nice to enjoy a cold

beer in the afternoon in the bush.) Fortunately our

President made the right sounds at the right time,

permitting the purchasing of alcohol again. As

things stood until then, I might have been forced

to buy zero alcohol beer, which, as a good friend

said, would have been “complete sacrilege”!

Reading the news each week about the evolving

COVID crisis worldwide and the constantly

changing information we are receiving about

infections and vaccinations, I cannot but think we

will still be dealing with this matter for some time

in the future. No one has really managed to get a

handle on it. If we are going to try and keep sane

and break out of the Groundhog Day repetitive

cycle, we are going to need to change how things

get done, plan accordingly, and accept that travel

and social interaction are going to be handled very

differently for some time to come.

Keep safe everyone!

37


KIDDIES CORNER

Add some music to your house using boring, old tin cans.

P.S. This project is best done with some adult supervision so help your kids out with this one!

Tin Can Chimes Idea

What waste you need:

• 3 or more tin cans with lids

By Palak Kapadia

Published online by SHEROES

• Nail and hammer

• Washers, one for each tin

• Paintbrush

• Paint

• Wool string

• Glitter

What to do out of these:

1. Paint the tin cans in different colours and add some

glitter if you’d like to.

2. Once they’re dry, make a hole at the bottom of

each can using the hammer and the nail.

3. String a long piece of wool through the holes.

4. Tie the two washers at the other end of the string,

inside the tin cans.

5. Hang the cans in a way that they overlap or hit each

other when the wind hits them.

Ta-da you have a new wind chime or should we say tin

chime!

Source:

Kapadia, Palak. 2020. Best out of waste for creative kid’s project. July 7. https://sheroes.com/articles/

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

38


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 national@mdsa.

org.za.

Is newborn screening available for

muscular dystrophy?

Newborn screening aims to detect potentially fatal or disabling conditions in newborns as early as

possible, often before the infant displays any signs or symptoms of a disease or condition. Usually

multiple tests are done simultaneously using a few drops of blood from the newborn’s heel. Blood

is tested for certain genetic, endocrine, and metabolic disorders. In order to test for a condition,

there needs to be a broad, rapid test available that is relatively cheap, has a low false positive rate

and high accuracy. Newborn screening is performed in individuals where there is no family history

of a genetic condition. It is not used where there is a known family history – in these situations,

other tests should be used to test the infant for the condition known in the family. Limited newborn

screening is available to private patients in South Africa. There is no State newborn screening

programme in South Africa.

Newborn screening for muscular dystrophy has not been widespread for a number of reasons.

Firstly, there are many different conditions and thus designing a single test to detect the majority

of these is not generally possible. This may change as genetic testing develops. Further, until

recently no treatment existed to significantly alter the disease course and thus many would have

argued against screening as early diagnosis would not have made any difference. This is changing

as treatment advances.

Some countries are now screening for the commonest form of muscular dystrophy, Duchenne

(DMD), by measuring the concentration of a type of protein called CK-MM, which is part of a group

of proteins called creatine kinase. Creatine kinase is found in muscle tissue and CK-MM enters the

blood stream in increased amounts when there is muscle damage or breakdown. Elevated levels

of CK-MM detected by the kit may indicate the presence of DMD. Results showing elevated CK-

MM must be confirmed using other testing methods, such as muscle biopsies, genetic testing and

other laboratory tests. The current availability of drugs such as steroids, ataluren, eteplirsen and

golodirsen, which may significantly alter the disease course if started early, makes screening for

DMD justifiable.

Screening for spinal muscular atrophy (SMA) by genetic testing for the commonest fault worldwide

– a deletion of both copies of the SMN1 gene – has also been introduced in some countries. New

studies are suggesting that early diagnosis and initiation of treatment with drugs such as Spinraza®

(Biogen) and Zolgensma® (Novartis) achieve best outcomes when started pre-symptomatically.

What is the difference between hereditary and sporadic

inclusion body myositis?

Inclusion body myositis refers to a group of conditions which share some clinical features of

progressive muscle weakness and wasting and also have similar features on a muscle biopsy, where

so-called inclusion bodies or rimmed vacuoles are seen. Sporadic inclusion body myositis (IBM)

presents with slowly progressive distal and proximal muscle weakness, often with years between

onset of symptoms and diagnosis. It is the most common inflammatory myopathy in men older than

50. It is distinguished from inherited IBM as there is also evidence of inflammation, not present in

inherited IBM. Inherited IBM is typically a slowly progressive muscle disease that typically presents

with bilateral foot drop between ages 20 and 40 years. Affected individuals have genetic faults in

both copies of their GNE gene.

39


Random gravity

checks

The monkey on

my back

By Andrew Marshall

Howzit guys,

I just thought I’d tell you about how I’ve been feeling for

the last few months, because if I feel this way I’m sure

some of my other boatmates will have had similar feelings

and/or experiences. Or maybe I’m just a fruitcake with

a bunch of extra nuts mixed in.

The past year was a crazy, chaotic rollercoaster, and

2021 seems to be following in its footsteps. I have always

had anxiety, depression and panic attack issues, but this

season of total uncertainty for people like you and me

– who are at a more pronounced risk of getting really ill

and potentially kicking the proverbial bucket – has been

next level. I’ve written a couple of blog posts about how

I’ve been convinced I’d caught the big bad bat flu. I titled

them Psychosomatic Insanity One and Two because my

mind was bombarded with doom and gloom. As I said,

I was convinced!

The first time I must just have had a cold, because I was

coughing and feeling like hell (and only a smidgeon of

its impact could be chalked up to man flu, I swear, cross

my heart). When I tested negative my brain was pretty

broken. Ever since then I’ve had a feeling of inevitability

hanging over my head, which is quite ridiculous because

some 50 million people (and that I think is a conservative

number) is a hell of a lot of people to run through, and

even if the Covid death numbers doubled, or tripled, that’s

still a boatload of people to work through. Statistically

I know the chances are smallish. But, that being said,

it’s still out there, with the potential to kick our bums.

I don’t think it is death I’m so worried about. Look, Covid

doesn’t look like a pleasant way to bite the big one, but

then again I’ve never really thought of pleasant ways to

face the final frontier. I think the main thing I’m concerned

about is that I have a lot more stuff I want to do. I keep

on having these incredibly big ideas about how I could

contribute to the world. Like my tablet project (which

has been put on the back burner – thanks, Covid) or

teaching parents of disabled kids not to totally wrap

them up in cotton wool but to give them their wings and

let them fly. (I still intend pursuing both these avenues.)

Another thing contributing to my anxiety is something

I have been dealing with for most of my life ‒ lack of

control (I suspect many of you have similar feelings).

And I’m not just talking about losing the remote control

and having to watch Strictly Come Dancing reruns. Um,

well, I sort of am ….

You see, we’re losing the ability to do different stuff all

the time. Like writing, walking or perhaps just talking

coherently. Chuck in the small stuff like losing the remote

and it all just compounds.

I’ve found that a few things exasperate the monkey that

generally lives relatively quietly on my back, and I know

that if I feed it food it will never die. One of the main

monkey foods that charges my anxiety is watching too

much news. I feel the media has blown the whole Covid

thing a bit out of proportion in an attempt to sensationalise

it, and even if they are close to reality and we should

all put our heads between our thighs in an attempt to

kiss our posteriors goodbye, I don’t think the constant

fixating on something that consumes your head and

heart is healthy. At the start of the pandemic I was totally

immersed in Covid news on TV. I still watch a bit every

day, because I believe that knowledge is power, but now

it is getting under my skin.

So, here are a few things that I’ve been doing to try and

get my mind off Covid.

Please excuse my privilege, but I’ve been able to see

(on Skype) a few psychologists and counsellors, and

they have really and truly helped me start to digest all

this. Okay, therapy doesn’t get your mind off it, but it’s

really good to express your thoughts and feelings to a

neutral, trained professional who doesn’t judge you ‒ to

talk stuff over and get different perspectives and explore

some ways I would never have thought of to cope. (It

was the psychologist who asked me if it was death I was

afraid of, or having little control.) I’m also lucky to have a

wide variety of friends as my sounding boards. My best

friend, Sand, who now lives in the UK but whom I chat

to regularly, gives me different perspectives and calls

me out when I’m being a spanner (but let’s face it, that

seldom occurs).

I also love watching sport – cricket in particular. I find

watching the ebb and flow of the games really interesting

and even a little therapeutic. Now, I can read some of

your minds responding, “I’d rather watch the lawn grow”

40


‒ but it doesn’t have to be sport. It could be something

like birdwatching or cooking, any activity that gets your

mind off stuff and away from churning. Ag, I just love

sport and maybe this is doff, but looking back at my life

I do feel it has carried me through a lot of things.

Music makes my rocking world go round, and instead

of listening to the stupid depressing news I’ve taken to

putting some killer tunes on. Listening to the sound of

rain falling or waves crashing while I’m writing a letter or

doing something else is incredibly relaxing, but music truly

feeds my soul. If I want to chill out I’ll put some chilled

stuff on, and if I want to relive my youth I’ll stick on a

nineties punk rock playlist. People have also suggested

that I try meditation, and I have tried a few times in the

past, but on the whole I find the spiritual ones just a little

bit plinky-plonkyish, if you know what I mean. I have also

done a few “mindful” ones though, and I feel these are

better for me.

I also try and keep busy by doing MOOCS (massive

open online courses). These can be a good way to keep

your mind active and off the monkey on the back that is

perpetually chasing its own tail. I haven’t done one lately,

but I do have my eye on a new psychology course that

looks great. And of course reading. I love reading, but

over the years I have found it more and more difficult to

keep my grip on the book and turn the pages and keep

my dodgy muscles in my eyes focused, so now I use

Audible so the authors can read to me (but between you

and me, it’s also because I’m a lazybones).

So, those are a few of the things I’ve been doing during

this crazy time, and I must say I’m feeling a billion times

better now than I have at times over the last year. I still

know that Covid is out there and that it may be a problem

if I get it. But I can also see that I’ve been so caught up in

thinking the worst and wondering, whenever I have a hay

fever sneeze, if Rona has finally come to get me, that I

have wasted a lot of time. And time is, ultimately, probably

the most precious resource there is. Here’s hoping that in

the year ahead less of it will dribble through my fingers!

Shout-out to Separations for their kind donation.

Your support is highly appreciated.

41


RESEARCH

EXON 45 SKIPPING

THERAPY FOR DMD

SHOWS SAFETY IN

SMALL TRIAL

BY MARISA WEXLER

PUBLISHED ONLINE IN MUSCULAR DYSTROPHY NEWS TODAY

JANUARY 19, 2021

different doses are reported to have

been tested, ranging from 0.1 mg/

kg to 6 mg/kg, but dosing was not

specified in the summary results

announced by Daiichi Sankyo.

Main trial goals were to evaluate the

safety and tolerability of the investigational

therapy, as well as its pharmacokinetic

profile — how the medication

moves into, through, and is

processed by the body.

A potential exon-skipping therapy

for Duchenne muscular dystrophy

(DMD) called DS-5141 showed a

good safety profile with repeat dosing

in a small clinical trial, according to a

press release.

The Phase 1/2 clinical trial

(NCT02667483) tested DS-5141

for a first time in Duchenne patients

amendable to exon 45 skipping. No

safety concerns, including clinically

significant adverse events, were

reported, and no one stopped treatment

early.

DMD is caused by mutations in

the DMD gene, which encodes the

instructions necessary to produce

dystrophin, a protein that is important

for muscle health.

DS-5141 is specifically an exon-skipping

therapy. Within a cell’s DNA, the

protein-coding parts of genes are

42

located in discreet segments called

exons. When the DNA is “read,”

these exons are strung together in

the messenger RNA, which in turn

is used to produce a protein.

DS-5141 allows the cells to skip

exon 45 when the DMD gene is read,

thereby allowing a cell to produce a

shortened ‒ but functional ‒ version

of the dystrophin protein in people

with a mutated exon 45.

The investigational therapy is being

jointly developed by Daiichi Sankyo

and the Orphan Disease Treatment

Institute in Tokyo, which specializes

in Duchenne treatments.

The trial enrolled seven boys with

DMD at two sites in Japan. DS-5141

was administered by subcutaneous

(under-the-skin) injection once

weekly for 12 weeks, followed by

once weekly for 48 weeks. Four

Another primary goal was to assess

the expression of dystrophin protein.

As announced in an earlier report,

protein expression was detected in

some, but not all, of the treated participants.

The recent release noted

“a clear increase” of dystrophin

expression in “several patients.”

A secondary goal was to assess the

production of DMD gene messenger

RNA with exon 45 skipping. This was

found in all participants.

Further analyses of trial data are

ongoing.

“Daiichi Sankyo will continue to

investigate this study’s result in detail

as part of its efforts to provide new

treatment options for patients with

DMD,” the company stated.

Article available at: https://muscular-

dystrophynews.com/2021/01/19/ds-

5141-shows-promise-in-small-dmdclinical-trial/


RESEARCH

SCIENTISTS EDGE CLOSER

TO TREATMENT FOR

MYOTONIC DYSTROPHY

BY THE UNIVERSITY OF NOTTINGHAM

PUBLISHED ONLINE BY EUREKALERT!

NEWS RELEASE, APRIL 29, 2020

THE IMAGES SHOW DM1 CELLS,

UNTREATED AND TREATED

WITH KINASE INHIBITORS.

FOLLOWING TREATMENT WITH

INHIBITORS TARGETING CDK12

NUCLEAR FOCI IN DM1 CELLS

ARE REDUCED

In a paper published today in

the journal Science Translational

Medicine, scientists from the Schools

of Life Sciences and Chemistry at the

University, have discovered that by

inhibiting a molecule in patients' cells

called CDK12, they can potentially

develop a therapy to alleviate some

of the symptoms, and help treat this

incurable condition.

Myotonic dystrophy is a long-term

genetic disorder that affects muscle

function. It is the most common form

of muscular dystrophy in adults and

affects about one in 8,000 people.

There is currently no treatment

available.

Symptoms include gradually worsening

muscle loss and weakness.

Muscles often contract and are very

slow to relax. Other symptoms may

include cataracts, intellectual disability

and heart conduction problems.

Some patients have a very mild form

and others have severe form, where

they are congenitally affected from

birth.

This is due to the molecular underpinning

of the condition, which is

caused by a dynamic mutation; a

triplet repeat expansion, in which

three base pairs of DNA are present

in different copy numbers. In the

general population people have 5‒30

copies of this DNA sequence.

In patients with myotonic dystrophy

this particular segment of DNA

becomes bigger than it is in the

general population, often with hundreds

of copies of the triplet repeat.

The faulty gene produces a faulty

RNA which contains the expansion

sequence, (RNA is a macromolecule

essential for all known forms of life

which transfers information from DNA

in the nucleus to the cytoplasm of a

cell where it makes proteins). The

faulty RNA gets stuck in the nuclei

of myotonic dystrophy patients' cells,

resulting in disruption to many cellular

processes.

In this new study, scientists have

discovered that through the inhibition

of the molecule CDK12 the additional

faulty RNA disappears, and

so reduces the symptoms of the

condition.

David Brook, Professor of Human

Molecular Genetics in the School of

Life Sciences, is the lead researcher

on the study. He said: "Through our

research we now understand a key

molecular component in the pathway

of the condition and that's a target

for us to try to inhibit this particular

CDK12 protein which will then have

beneficial effects in terms of developing

a treatment.

"Transcription is the process by

which RNA is made from DNA and

this can require CDK12. When the

repeat sequence is transcribed, it

makes the faulty expansion RNA –

but we think that the myotonic dystrophy

patients' cells struggle to make

the faulty RNA and they increase

their levels of CDK12 to keep ploughing

through the expansion sequence

and make more of this RNA because

the cell doesn't know this is toxic.

"What we've found is that our inhibitors

affect the function of CDK12 and

so prevent the transcription of the

faulty RNA which offers a possible

route to a treatment of the condition.

"We are now at the stage where we

know if we can inhibit CDK12 selectively

- then it's going to be a potential

therapy - and now we are trying

to work out how to do that."

Article available at: https://

www.eurekalert.org/pub_

releases/2020-04/uon-sec042720.

php

43


Healthy Living

COVID-19 VACCINES

POSE LITTLE RISK TO

RARE DISEASE PATIENTS,

FDA, CDC SAY

BY FOREST RAY

PUBLISHED ONLINE IN MUSCULAR DYSTROPHY NEWS TODAY

JANUARY 25, 2021

The two COVID-19 vaccines that recently received emergency

approval from the U.S. and other worldwide regulatory

agencies are expected to pose little risk to the

rare disease community, including to patients with compromised

immune systems or those participating in gene

therapy studies.

That was the message of a recent webinar, hosted

by the National Organization for Rare Disorders

(NORD), in which officials from the U.S. Food and

Drug Administration (FDA) and the Centers for Disease

Control and Prevention (CDC) addressed concerns from

the rare disease community regarding the newly available

COVID-19 vaccines.

The webinar was sponsored by the ALS Association, the

Cystic Fibrosis Foundation, and the Muscular Dystrophy

Association.

People living with rare diseases have faced unique

challenges to their physical and emotional well-being

during the ongoing COVID-19 pandemic and its related

lockdowns.

According to a survey conducted by NORD, most of the

respondents (98%) worry about the impact of COVID-19

on their disease, and more than two-thirds (69%) also

have concerns about shortages of critical medicines and

personal protective equipment. Notably, 79% of those

surveyed have had medical appointments canceled as

a result of the pandemic.

The FDA recently granted emergency use authorization

to two COVID-19 vaccines: the Pfizer and BioNTech

vaccine for individuals ages 16 and older, and the

Moderna vaccine for those 18 and older. To date, 10‒12

million doses have been deployed, the officials said.

These emergency use authorizations significantly

shorten the normally long approval processes for new

medications and allow them to enter the market more

quickly, but usually with less evidence. However, Peter

Marks, the director of the FDA’s Center for Biologics

Evaluation and Research (CBER), made it clear that

the evidence required for these COVID-19 vaccines was

“very similar in many ways” to that of a vaccine approved

through the normal process.

There is some uncertainty ‒ albeit little ‒ surrounding

COVID-19 vaccine use specifically in patients with rare

diseases. This stems primarily from the challenges of

finding sufficient numbers of people with such disorders

to participate in vaccine trials.

“They have clear and compelling evidence that

they are safe and effective. They were studied

in large trials, one in 44,000 patients, approximately,

the other in 30,000 patients, approximately,” explained

Marks, who is board certified in internal medicine,

hematology, and medical oncology.

44


Healthy Living

Still, based on the evidence to date, the FDA does not

feel concerned that the COVID-19 vaccines will cause

any harm to those with a rare disease ‒ including those

with a compromised immune system ‒ Marks said.

“It is really hard to study vaccine efficacy and

safety in one rare disease, because we just don’t

have enough people with those diseases to come to significant

conclusions,” said Stephen Hahn, the commissioner

of the FDA.

The bigger question, he said, is whether they will be as

effective among this population. At this point, scientists

don’t know for sure the answer to that question.

But since many people with rare diseases ‒ particularly

those with any form of respiratory compromise or diabetes

‒ are at risk of more severe COVID-19 infections,

“the benefit may outweigh the risks,” Marks said. He

stressed the importance of patients discussing the individual

benefits and risks of the vaccines with their own

healthcare providers.

With some in the rare disease community hoping to

access gene therapies in the not-so-distant future,

patients have expressed concern about the risk of being

unable to access these medications after receiving the

vaccine, due to the development of antibodies against

the viral vector.

Marks said this should not be an issue, noting that the

vaccines “are packaged essentially in a soap bubble, and

the soap bubble is not like … any of the adeno-associated

viruses that are being used for directly administering

gene therapy, nor is it like any of the other vectors

that are being used.”

“The likelihood of something happening here,

where one of these vaccines would preclude

you from getting a gene therapy, is pretty much nonexistent,”

he said.

When asked whether the rare disease community should

choose one of the COVID-19 vaccines over the other,

Marks explained that they are similar vaccines, with very

close dosage schedules.

The two available vaccines both use messenger RNA

(mRNA) ‒ the intermediate molecule that carries information

from the DNA to produce a protein ‒ to teach cells how

to make viral proteins that trigger an immune response

to SARS-CoV-2, the virus that causes COVID-19.

Both vaccines have shown 94‒95% efficacy, meaning

that they have prevented that percentage of patients

from becoming infected, relative to placebo treatments.

By comparison, the annual influenza vaccine is typically

about 70% effective.

The two COVID-19 vaccines also showed strong safety

profiles, with allergic reactions occurring on the order

of one in 100,000 individuals or less. Notably, the reactions

that did occur appeared to be triggered by one of

the vaccine components, which Hahn says both the FDA

and CDC are investigating.

“For all intents and purposes, these are

very similar vaccines,” Marks said, adding

“I cannot say that one is better than the other.”

In the very rare case that someone does experience an

allergic reaction, Amanda Cohn, chief medical officer in

the Office of Vaccine Policy at the CDC, says that vaccine

administration sites are trained and equipped to handle

the situation, with necessary medications on hand. The

CDC recommends waiting 30 minutes after receiving

the injection so that any symptoms that do arise can be

promptly treated.

Cohn also addressed the concern of who gets vaccinated,

and when and where. Cohn said that local jurisdictions

can exercise flexibility in these decisions, as

they best know how to serve the needs of their individual

communities. Information about available vaccinations

can be found on state health department websites

and directly from most large healthcare systems; many

municipalities also are offering the vaccine through their

health and emergency services agencies.

A final concern that the panel addressed was that of the

new SARS-CoV-2 variants, such as the one recently

discovered in the United Kingdom. Although this virus

appears to spread faster than other strains, the current

vaccines so far appear effective against it, Marks said.

“Right now, whatever you can get in your arm

in a timely manner, that’s the vaccine that’s the best,”

he said.

“More troubling,” he said, “is a South African

variant, which may be less well-covered.”

45


Healthy Living

While both the FDA and CDC continue to gather information

on this new variant, Marks commented that even if

vaccines have to be adjusted for this or other new strains,

public health agencies will be better prepared, and able

to produce a vaccine without having to spend four to six

months in clinical trials.

“What I think we’ve all learned, all of us

living in COVID-19 this year, is that we

have to just prepare for the unexpected,” Marks

concluded.

Article available at: https://musculardystrophynews.

com/2021/01/25/covid-19-vaccines-pose-little-riskto-rare-disease-patients-fda-cdc-officials-say/

COVID-19 CORONAVIRUS

VACCINE MYTHS

AND FACTS

Myth: Vaccines are unsafe and normal safety protocols

have been circumvented to fast track their authorisation

for use

Fact: The fast development and approval of vaccines is

a great human feat worthy of celebration. This has been

possible because we have learnt over many decades

how to make and test vaccines and we were able to

take those lessons and challenge ourselves to produce

a vaccine much quicker. No step in the development,

testing or ratification of the COVID-19 vaccines has been

skipped. The world was able to develop vaccines fast

because scientists and governments around the world

collaborated in a manner that has never been achieved

before and pooled resources and information to ensure

that everyone can contribute to the knowledge.

Myth: The vaccine will change my DNA

Fact: Vaccines work by stimulating the body the same

way the virus would if someone were infected. That

means when you receive the vaccine the body then

recognised that it looks like the coronavirus and then

it releases certain chemicals that start a chain reaction

to make immune cells that can fight the real virus. The

vaccine does not work on the DNA of the body. Some

people think that because some of the vaccines are

made using RNA technology that means the RNA

will interact with the DNA. That is not how it works. The

technology is simply the way the vaccine is made - not

what it will do to the body.

Myth: Vaccines contain a form of microchip that will be

used to track and control an individual

Fact: There is no vaccine "microchip" and there is no

evidence to support claims that such a move is planned.

Receiving a vaccine will not allow people to be tracked

and personal information would not be entered into a

database.

Myth: Big businesses are pushing vaccines to improve

profits

Fact: The COVID-19 crisis has caused massive upheaval

across the globe and no nation has been spared. A

vaccine represents the best hope to save lives and to

restore our way of life, many governments have therefore

entered into direct talks with vaccine makers to ensure

a timeous supply of vaccines.

Myth: Government is complicit with big businesses in

pushing vaccines despite the risks

Fact: Government is committed to saving lives and livelihoods.

The fastest way to return to our way of life is

through ensuring that the majority of the population are

protected from the virus. Vaccines are the simplest and

most effective way to do this.

Myth: The Vaccines have the mark of the Beast - 666

Fact: Vaccines have no connection with any religious

organisations and cannot be infused with spirits, demons

or other abstract ingredients.

There is no conspiracy to possess, bewitch or control

anybody.

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

myths

46


Healthy Living

MEDITATION AND

NEUROMUSCULAR

DISEASE

BY THE MUSCULAR DYSTROPHY ASSOCIATION

PUBLISHED ONLINE JANUARY 7, 2021

Living with neuromuscular disease (NMD) involves specific

challenges — some physical, some strategic, some

structural — that can create stress and contribute to

changes in both physical and mental health. Can meditation,

mindfulness, and other relaxation practices help?

Yes, says Paige Lembeck, PhD, a pediatric psychologist

and assistant professor of Clinical Child Psychology at

the Yale Child Study Center in New Haven, Conn. Paige

treats people who experience chronic headaches, muscular

dystrophy, and other neurological conditions. Here,

she sheds more light on how meditation can make a

difference.

Can meditation help in specific ways with the management

of neuromuscular disease?

Absolutely. Tons of evidence proves that meditation

changes a person’s physical state, and these interventions

are commonly used to help people with all sorts

of physical symptoms, such as chronic pain. We have

learned that relaxation and reduced stress can promote

healing and reduce inflammation in the body, which is

consistent with what we know about the “mind‒body”

connection being very real. Research shows that meditation,

mindfulness, and similar stress-reduction techniques

can especially help with cardiac and respiratory

health. If people feel more comfortable and less anxious

with the help of meditation and mindfulness, they are

also likely to cope more effectively with procedures, hospitalizations,

and other aspects of treatment for NMD.

Overall, there is a mountain of evidence showing that

supporting one’s psychological health can also lead to

more positive physical health outcomes.

How does one know if meditation is right for them?

Meditation, just like drinking water or getting a restful

night’s sleep, is something that is beneficial for everyone.

Having said that, the best way for someone to know if

meditation is a good fit is to try it out! Like any new skill,

such as learning to read or playing a new video game, it

is best to practice it regularly for brief periods of time (it

really does take practice to do it well!). At first, it is best

to practice during non-stressful times to build fluency in

using the skill before applying it in times of higher stress.

A patient, persistent approach is better than simply trying

it just once and then dismissing it as ineffective. I encourage

those who are new to meditation to think about their

own schedule and to see when it might make sense to

fit it into their routine. For example, many people like

47


Healthy Living

to use meditation as they are waiting for an appointment

or before falling asleep at night. If used regularly, it

becomes ingrained as a useful daily habit that becomes

much more automatic and helpful.

What do meditation and mindfulness practices

consist of? How much time is needed to incorporate

these practices into a daily or weekly routine?

There are many different types of meditation and mindfulness.

Both have the goal of helping us slow down, be

more aware of ourselves and our senses, and turn off

our body’s fight-or-flight response (also called our autonomic

nervous system response). They promote relaxation

and help us pay very close attention to our emotions,

thoughts, and whatever else is going on in the

moment. Often, they involve exercises and prompts to

use skills such as deep breathing or to gently direct our

attention to helpful thoughts or images. Also, meditation

and mindfulness encourage a person to use all their

senses, with the rationale that doing so deepens the

experience and makes it much more powerful.

In our age of media and technology, there are abundant

“scripts,” YouTube videos, smartphone apps, audio files,

and other tools online that are great guides to walk you

through the process. When done effectively, mindfulness

and meditation naturally evoke positive emotions

and/or physical states to allow an escape from stress

or unpleasant physical sensations. For example, if a

person loves skiing and uses guided imagery to think

deeply about an exhilarating, bright day on the slopes,

that person is essentially creating a state of mind not too

different from being there in reality.

It is possible to use these strategies as you are going

about your day without them interfering with anything else

on your schedule. For example, there are ways to walk

and to eat mindfully. Rather than devoting large chunks

of time to using these skills, I recommend incorporating

them more frequently throughout the day or week in small

amounts, which requires only a few minutes at a time.

What are some good resources for people interested

in meditation?

Some popular apps with meditation exercises include

Calm; Headspace; Stop, Breathe & Think; Buddhify; and

Insight Timer. There are also podcasts for those who

prefer this format, such as 10% Happier. The Imagine

Project and Mindful.org are great websites as well. In

addition to these, there are numerous books and publications

on the topic.

Are there other tools or self-care practices people

with chronic illness or disabilities can use to maintain

their mental health?

Relaxation techniques are always useful, such as diaphragmatic

breathing, progressive muscle relaxation,

and cognitive-behavioral strategies that involve changing

one’s thinking and actions. Cognitive techniques can be

used to catch common thinking mistakes, such as catastrophizing

and changing one’s thoughts to be more

helpful. And a strategy used to treat depression, and one

that can help prevent depression, is something called

“behavioral activation” or “pleasant activity scheduling.”

This strategy is just what it sounds like in that it emphasizes

the importance of protecting time for and engaging

in positive activities that boost one’s mood. As with physical

health, healthy habits in general serve as the foundation

for one’s mental health as well. So, ensure you are

getting good exercise and eating, hydrating, and sleeping

well. Of vital importance is also community support

‒ connecting with those who are also affected by NMD.

What advice do you have for those living with neuromuscular

disease, especially during a difficult time

of change?

Above all else, it is important to remember that many

families affected by NMD live fulfilling, happy lives and

find ways to be resilient despite adversity. It is totally

normal to have low moments or even low days in times

of stress, so validating a range of emotions without judgment

and just being a great active listener to those who

are struggling can go a long way. It is important to find

social support, communicate openly, be willing to try new

things that may help, and try to look out for those “silver

linings” that are often tough to see at first.

In addition to supporting a person with an NMD, it is

important to support and take care of everyone’s mental

health within a family. Youth with NMD often are reassured

by developmentally appropriate explanations,

opportunities to ask questions, and being given choices

or a sense of control in general. It is important to look

for ways to boost one’s independence whenever possible.

In times of stress, people benefit from structure,

routine, and access to pleasant, enjoyable activities that

can reduce anxiety and maintain a sense of normalcy.

Professional mental health services are recommended

(and can be extremely helpful) if adjustment or coping

concerns begin to impact one’s overall happiness, relationships,

or functioning at school or home.

Article available at: https://strongly.mda.org/meditationand-neuromuscular-disease/?fbclid=IwAR3YT29l0Tr1

Snh7_qBAVNBgDlihgXvBGDOpR9eEW15bFIfRUS2ML-

192RHQ

48


Healthy Living

WHAT IS IT LIKE LIVING

WITH DUCHENNE

MUSCULAR DYSTROPHY?

BY QUINN PHILLIPS

MEDICALLY REVIEWED BY JOY TANAKA

PUBLISHED ONLINE BY EVERYDAY HEALTH

LAST UPDATED JULY 6, 2020

Hearing that your child has Duchenne muscular dystrophy

‒ a genetic disease, mostly seen in boys and men,

that causes muscle function to deteriorate over time ‒

can be devastating for parents. You may wonder if your

child will be able to participate in normal activities, like

school and play, and about what kind of help they will

need once they can no longer walk easily, or at all.

There is no cure for Duchenne, and although there are

many promising potential treatments on the horizon, currently

approved treatments can only slow the progression

of the disease, not stop or reverse it. Losing muscle function,

and knowing that this process will continue, creates

many practical and emotional challenges for people with

Duchenne and their families. But these challenges don’t

have to rule out having a fulfilling, meaningful life.

Colin Rensch (upper left), Ethan LyBrand (lower left),

and Ben Dupree, with his mother, Debbie Dupree

(far right). Photos Courtesy of Parent Project

Muscular Dystrophy and Muscular Dystrophy

Association

Here are some of the ways that having Duchenne

can complicate life, and how three people who have

Duchenne are adapting to and overcoming these

complications.

Help and Connection after a Diagnosis of Duchenne

Muscular Dystrophy

When the parents of Ethan LyBrand, age 10, learned just

before his second birthday that he had Duchenne, it was

a devastating shock, even though they had observed

49


Healthy Living

for months that he didn’t have the energy or mobility of

other kids his age.

“At the time, unless you compared him to other kids,

there weren’t that many symptoms that you could outright

see,” says Ethan’s mother, Jordan LyBrand. “He was able

to run, able to go upstairs ‒ just a little bit slower.” But

earlier in life, she notes, he was late to walk and never

crawled, and was always small for his age.

As soon as Ethan received his diagnosis, the Decatur,

Alabama, family got in touch with the Muscular Dystrophy

Association (MDA) for guidance and support, and “they

became part of our family,” says Ethan’s father, Josh

LyBrand. Parents of newly diagnosed children, he

believes, should “look to the MDA and reach out to

parents of other children who have this disease. It’s a

great way to talk with them, and for them to talk with us.

And know that you’re not alone in any of this.”

The family has been involved in fundraising and advocacy

through the MDA, and Ethan was recently named

the MDA’s national ambassador for 2020–2021, a role

in which he advocates for kids living with muscular dystrophy

and neuromuscular diseases.

“I was so happy. I could not believe that I would ever

be getting this big of a role,” says Ethan of his appointment.

“And I’m going to have this amazing role for two

more years.”

Maintaining Mobility with Duchenne Muscular

Dystrophy

Duchenne affects everyone a bit differently, and that’s

certainly true when it comes to the kinds of daily activities

people can do on their own, and for how long.

Ben Dupree, a 26-year-old resident of Dallas who has

Duchenne, was diagnosed at the late age of 9 and

required progressively more assistance to walk from

then until age 15, when he started using a wheelchair

full-time.

Before that, walking “was just so tiring, even at short distances,”

Dupree remembers. “I began to feel isolated

from my friends. I wasn’t able to participate in some of

the same activities as my friends, and that gap widened

as I got further into high school.”

Advocating for Accessibility

While switching to using a wheelchair full-time allowed

him to participate in many activities, Dupree also notes

that it brought new limitations, since not every location

or activity in question was wheelchair accessible. But,

he notes, “as I got into college, I began learning to advocate

more for myself and find a way around a lot of those

barriers.”

It helped, he acknowledges, that during the year he lived

on campus, he had a personal aide to help him stretch

and do chores like laundry. But, he says, “I was still relatively

independent. I didn’t need assistance that often.”

Air Travel

Traveling by airplane is a difficult task for someone who

uses a power wheelchair, Dupree says. “There’s a lot

you have to do to pack up a power wheelchair so that it

doesn’t get damaged in the process. You have to know

how to take it apart and put it together. And there’s a

process of getting out of the chair, getting in a transfer

chair, and getting transferred onto the plane.”

Still, he travels for conferences related to Duchenne, such

as the Parent Project Muscular Dystrophy (PPMD) annual

conference, a yearly event that brings families together

to learn about treatment advances for Duchenne, recent

clinical trials, and the organization’s advocacy work. The

conference also features closed sessions just for teens

and adults with Duchenne or Becker muscular dystrophy,

and individual consultations with experts.

Adapting, and Then Adapting Again

Colin Rensch, a 26-year-old resident of Kalamazoo,

Michigan, with Duchenne, remembers being “kind of

topsy-turvy on my feet until I was about 12,” following

his diagnosis at age 3. He underwent tenotomy, or heel

lengthening, at that age, which didn’t help him to walk

more easily, and by age 13 or 14 he had started using a

scooter, before transitioning to a wheelchair at 15.

Rensch lived on campus in an accessible dorm during

all four years of college, and his mobility limitations didn’t

stop him from traveling to Vienna, Austria, as part of a

research project for his master’s program in music and

history. But he admits that “it can be exhausting sometimes

when you know that things are continually changing,

just a gradual sort of losing of abilities. You just have

to stay on top of trying to get any type of resource you

can.”

Beyond Mobility, Help with Daily Tasks

Ethan LyBrand is still walking but gets tired easily and

sometimes uses a wheelchair, which he has named

Bumblebee after his favorite Transformer (from the film

series). “I need help with a lot of things,” says Ethan. “I

can’t get up from a sitting position; I can’t go use the restroom

by myself. Mom and Dad have to help me with my

food, getting it ready. It impacts me a lot, but since I’m a

really positive person, I always see the bright side of it.”

Undergoing Treatments for Duchenne Muscular

Dystrophy

Thanks to his relatively early diagnosis, Ethan LyBrand

was able to start steroid therapy (a standard treatment

for Duchenne) at age 3, and he also participated in a

50


Healthy Living

clinical trial for a myostatin inhibitor ‒ a class of drugs

that may help increase muscle mass and strength. And

so far, he hasn’t needed further treatments to address

symptoms or complications of Duchenne.

In addition to his tenotomy at 12, Rensch underwent

a spinal fusion at 20 ‒ a surgery to repair scoliosis, a

sideways curvature of the spine, resulting from loss of

muscle mass in his trunk. “My back was only 30 percent

scoliosed when they fused it, but they fused the whole

thing to prevent organ damage,” as well as to improve

his posture, he notes.

Dupree notes that steroids for Duchenne cause unpleasant

side effects, like irritability and delayed growth. For

a while, he was prescribed growth hormones to make

up for this effect, “but that upset the equilibrium I had

going. In the position I was in, being on the edge of being

able to walk, suddenly being taller can throw that off a

bit,” he says.

Currently, Dupree takes several medicines to improve his

heart function and uses a BiPAP (bilevel positive airway

pressure) machine to help with breathing at night. “That

was kind of a journey to get to that point. Adjusting to

having a mask on at night is difficult,” he says. But “the

benefits for my health and well-being, and longevity, outweigh

the annoyance of wearing it or the time it took to

get used to it.”

Purpose and Positivity with Duchenne Muscular

Dystrophy

Duchenne hasn’t stopped Ethan LyBrand, Dupree, or

Rensch from pursuing meaningful activities and careers.

Getting and Giving Social Support

In addition to his official role with the Muscular Dystrophy

Association, Ethan recently took over the group’s online

social channels to offer a “Joke a Day for MDA” as a

way to keep people’s spirits up during the COVID-19

pandemic. “It just seemed like a really good idea at the

time to show people that they weren’t alone and bring a

smile to their face during these tough times,” he says. “I

really feel like it gave people something to look forward to

every day, and it gave me something to look forward to.”

Unfortunately, due to the pandemic, Ethan’s “favorite

week of the entire year,” the MDA Summer Camp, won’t

be happening this year in its regular form. In past years

at this camp, “I get to see so many of my friends, I get

to meet new people, and it’s just the best experience

ever,” he says. “There are so many good activities, like

archery, horseback riding, a pool, tubing, a water slide,

and a zip line, which has got to be my favorite.”

Studying, Singing, and Composing

Rensch is finishing up his second master’s thesis and will

soon begin a PhD program in musicology. “The history of

music is something I’m really passionate about,” he says.

In addition to his academic study of music, “I’ve gotten

into singing over the past few years, so that’s been quite

fun” — including joining a church choir. With the effects

of Duchenne on breathing and muscle strength, “all of

the vocal stuff is a little complicated, but you kind of have

to figure out hacks,” he notes. Rensch also composes

music, and uses software liberally in the process. This,

he says, makes it less important that his finger dexterity

on the keyboard isn’t what it used to be.

Giving Input on Drug Approvals

After finishing a degree in biochemistry, Dupree is pursuing

a graduate degree in social work. He is also a patient

representative for the U.S. Food and Drug Administration

(FDA) in the Duchenne drug approval process, and sat

on a panel for one drug consideration already.

Planning and Problem-Solving Necessary

“From my experience, there are a lot of extra steps that

come with having Duchenne to accomplish some goals,”

says Dupree. “A lot of things can still be done, it just takes

some extra planning and steps that a lot of people don’t

have to think about.”

Rensch agrees that to live well with Duchenne, “You

have to be a good problem solver. But your quality of

life can be pretty good if you’re willing to keep up with

those things. Navigating that is different for everyone.”

Article available at: https://www.everydayhealth.com/genetic-diseases/

what-is-it-like-living-with-duchenne-muscular-dystrophy/

51


Cape Branch News

Goals of the Muscular Dystrophy Foundation

of South Africa, Cape Branch

Our primary goal at the Muscular Dystrophy Foundation is to support all clients and their families affected by

any type of muscular dystrophy or neuromuscular disorder. We aim to achieve this by doing the following:

• Hosting support groups for learners at LSEN schools

• Hosting adult and parent support groups

• Creating muscular dystrophy awareness

• Assisting clients with specialised equipment when needed

• Fundraising to sustain our programmes and help create awareness

• Supporting and promoting ongoing muscular dystrophy research

• Creating adult and teen Whatsapp support groups for our clients

• Collaborating with stakeholders

• Campaigning for recognition and equality for people affected by muscular dystrophy

• Improving the quality of life for all our clients

• Maintaining the dignity of our clients

• Empowering our clients to make decisions that impact their quality of life in a positive way

• Assisting our clients with skills development

• Motivating our clients to integrate into mainstream society

• Encouraging our clients to be as independent as possible to boost their confidence

• Encouraging our clients to be involved in the organisation

• Connecting our clients with specialised health services professionals

Our ultimate goal, however, is to find a cure for muscular dystrophy.

The Muscular Dystrophy Foundation Cape Branch would like to thank the Smit family for their generous donation

of a wheelchair and a walker. These were donated in memory of their late father.

52


KZN BRANCH NEWS

KZN Gets its Wheels

The year 2021 started off with exciting news for the KZN Branch. Our thanks go to the National Lotteries

Commission for sponsoring our vehicle and also for financial support towards our operational costs for 2020.

Our long-awaited vehicle will allow us to travel to attend to awareness programmes and fundraising events

in KZN. The branded vehicle, fitted with ramps, will also allow us to transport our volunteers who depend on

wheelchairs to participate in our special events and awareness programmes.

Thank you once again, National Lotteries Commission, for your consideration and for recognising our needs

in trying to meet our obligations.

News from KZN

The KZN Branch reports that despite the circumstances and challenges faced since mid-March 2020 and in

particular the challenges faced by the entire country since April 2020 relating to the COVID-19 protocols and

lockdowns, we have striven to stay close to as many members and volunteers as possible. As for many other

non-profit organisations, the challenges and circumstances have been both positive and negative.

Naturally, our first priority was the welfare of our members. A special thank-you to all parents and members

who responded to our SMS messages immediately after the first lockdown was announced in mid-March

2020. We hope and pray that the one-off amount deposited into your bank account helped you to cover your

medication or grocery expenses. Those who have not received your SMS should please send an email to

accountskzn@mdsa.org.za updating your information, and we will assist you where we possibly can.

We humbly appeal for more volunteers to assist us in our projects, which will allow us to move forward in supporting

our members and parents.

DATABASE

As mentioned, some of you may have not have received the SMS offering you our support, and this could

mean that we do not have your current contact details. We will be setting aside the month of April 2021 for

you to contact our office number, 031 332 0211, Mondays to Fridays from 08h00 to 16h00, to update your

information on our database. Please take advantage of this so that you are not left out in terms of support

and applications for equipment.

FUNDRAISING

We want to place on record our sincere appreciation of all our loyal donors and volunteers who assisted us in

the sale of Casual Day stickers in November and December 2020. We are extremely grateful for your assistance

and contribution and look forward to your continued support in our other fundraising drives. Our branch’s

“My Support Means Hope” sticker drive for 2021 is now in progress, with a target of 2 000 stickers to be sold

monthly. We look forward to support from companies, schools and all our loyal volunteers in assisting us to

achieve this target. Any volunteer who wants to adopt and coordinate this commission-based project is urged

to contact our office number or send us an email explaining your interest.

53


Gauteng Branch News

Meet the new Business Development Specialist

and General Manager

Themba Harmonious Bumba was born over three decades ago at

Nkomo Village outside Giyani in Limpopo province. After completing

his secondary school education at Mahumani High School, Bumba

pursued his tertiary education studies in Gauteng, where he studied

media and journalism at Jeppe College. He is an experienced communications

and fundraising specialist with vast experience.

Bumba's experience ranges from working in the radio sector, nongovernment

organisations and advocacy organisations. He did

fundraising for international organisations such as Greenpeace

and Action Aid and for local NGOs like the South African National

Council for the Blind. He also did a stint with the International

Federation of Red Cross and Red Crescent Societies as their partnerships

and communications officer in their Southern Africa cluster.

Themba joins the Muscular Dystrophy Foundation after working as

both a sports presenter and a community engagement coordinator

at Vision FM.

I am happy to join the MDF and make sure that we take this organisation

to greater heights; it is my objective to bring sustainability

to the organisation and help those who pin their only hope on us.

We should remember our main objective as being to strengthen

the organisation, and stick to it. Our members and clients must see

HOPE whenever they see our logo.

He is a prominent Mamelodi Sundowns FC supporter, and he loves socialising and networking.

Themba is a father of three ‒ two boys and a girl (Ngilosi, Darren and Amila) and he is married to Mbali Jele.

We want to bid Themba welcome as part of the MDF Gauteng Branch team. He started at our branch on 1

January 2021, and we look forward to a long and prosperous career with him.

Rothea Louw is another new face in the Gauteng Branch.

She was born and bred in the heart of the Karoo in a small town,

Noupoort. She is one of four children in a close-knit family. After

school she studied social work at the University of Stellenbosch.

From there she moved to Namibia and worked as a community

developer for the Herero population.

She then started working at the South African Military Health Service

as a social worker. The highlights of her career during this time were

to be appointed manager of the SAMHS crèche in Pretoria and to

be utilised as the social work supervisor in Gauteng.

During this time, she met her husband Hannes. He is a trained

social worker and has furthered his studies in psychology, financial

management and property appraisal. Hannes was diagnosed

with multiple sclerosis about 20 years ago, which has given Rothea

knowledge and understanding of families that experience loss due

to a progressive disease.

54


Gauteng Branch News

She spent the last 17 years teaching at a primary school, where she was responsible for computer training

and literacy for children from Gr. RR to Gr 7. This involved a variety of skills, from teaching them to click with

a mouse to keeping them off the internet!

The Louws have two daughters, who both live in Johannesburg. Joalet is an office manager of a property

group. Mariet teaches accountancy and is married to Dawid, who works at Hatch Engineering. Then there is

Kanja, her border collie. Kanja falls in the category of friends.

Rothea loves to be with friends and family and to spend quality time with them. She enjoys cooking, gardening,

good movies and reading.

She believes her biggest advantage in life is that she still has an 84-year-old mother, who still prays for her

every day.

Her biggest frustration in life is the maintenance and upkeep of their swimming pool. Although it is a small

pool, it keeps her humble.

After only a month at the Foundation, Rothea’s dreams for the MDF Gauteng Branch include building a close

network of members that can act as a centre of knowledge and support, raising general public awareness to

a point where they have basic knowledge of the disease, and reaching out to people who are in need.

There is no Barista or Nespresso at the head office, but if you ever are in the vicinity of Roodepoort you are

welcome to pop in for tea.

Mulanga Kharidzha is an old hand but not old

school

Mulanga Kharidzha is a well-known face in our branch. For all our

new members, we would like to share some information about

her and the services she renders. She is a social worker for the

Muscular Dystrophy Foundation of South Africa, Gauteng Branch

and is based in Tshwane (Pretoria). She is also responsible for

social work services in North West and Limpopo provinces. She

has provided a selfie (see the photo) of herself standing in front

of her office in Pretoria ‒ this is to make sure that you know which

door to enter when visiting her. Mulanga is known as a caretaker

with her finger on the pulse of the dynamics in our office and of the

members for whom she is responsible.

Members of the Foundation around the Tshwane area are welcome

to visit her at her office, which is at Prinshof School in Pretoria, near

the Tshwane district hospital and Steve Biko Academic Hospital.

She is at the Pretoria office from Mondays to Thursdays. On Fridays

she travels about 130 km from Pretoria to the Florida Park office

in Roodepoort, Florida Park. This is where the main office of the

MDF Gauteng Branch is situated and where all employees of the

branch meet once a week.

Mulanga’s call to all our members is: “Let’s all continue to stay safe.”

55


IN MEMORIAM

In loving memory of Johnny Santos

Johnny was an amazing person, always smiling, and a very kind

soul. He loved life, and he loved his food, and he loved fast cars

and racing motorbikes. He studied architecture at CAE College

and also achieved in IT A+ and N+. He was always willing to help

people with his computers and laptops. He loved technology and

he had passion for music. He loved listening to music such as Pop,

Rock, Oldies and music from the 70's and 80's. He enjoyed life

almost like a normal person. He went to Edenvale High School,

where he passed his matric (Grade 12). When he was at school,

he read all the Harry Potter Books, and he loved watching movies,

series and documentary programmes. He furthermore loved nature

and animals.

Johnny was diagnosed with Duchenne muscular dystrophy. He

was a loving son and we were very close. From the point of view

of a mother I made sure that he did everything normally like any

person without muscular dystrophy.

He worked for Bidvest (NCP Yeast) for eight years and was always a good worker. He was responsible

for controlling and checking the bakeries’ yeast for use at Albany, Sunbake and other bakeries in the

country. He used to control and check the tanks and graphs on the laptop and do updates for the bakeries

depending on the readings.

Johnny lived the fullest life, always with a big smile on his face. He really was so positive towards life.

We will miss him, but the most important thing is we have the best memories of my son and will never

forget him.

Regards

Maria Santos

Likhona Rosemary Zibi

It is with great sadness that the Cape Branch has learnt that Likhona

Rosemary Zibi passed away. Sincere condolences to her family, and

may she rest in peace.

Condolences to family and friends. Ed.

56

More magazines by this user
Similar magazines