Autumn Issue 64
What is it like
Rare diseases day 2021
Enquiries: (021) 592 3370
10 Principles and priorities for safe and effective activity
15 25 questions about FSH
20 Myasthenia gravis fact sheet
24 Rocherpan reloaded
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
34 Sandra’s thoughts on wearing masks
36 The View from Down Here
38 Kiddies corner
39 Doctor’s corner
40 Random gravity checks
42 Exon 45 skipping therapy for DMD shows safety in small trial
43 Scientists edge closer to treatment for myotonic dystrophy
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?
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
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.
“The doors of MDFSA are always
open if you need to talk or just
drop in for a cup of coffee.”
A family of thick knee kiewiets
really took our invitation to heart
and made our garden their home.
MDF Notice Board
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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.
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
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.
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Tel: 021 557-1423
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Cell: 084 702 5290
Cell: 082 608 4820
Cell: 079 885 2512
Tel: 079 594 9191
Friedreich’s Ataxia (FA)
Cell no: 084 405 1169
Tel: 011 802-7985
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Tel: 011 640-1531
Tel: 017 683-0287
freedom and support
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
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.
• Ubuntu and helping family(Don’t
set yourself on fire to keep
• 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
• Manage debt
• Investing money
• Investing in property
Please contact Sarie Truter if
you wish to attend
Tel. 011 472-9703;
Please email your order and proof of payment to
email@example.com by 31 August 2020.
S-M & L-XL:
S-M & L-XL:
Please note that the delivery
charge is for your cost.
(500 ml) R50.00
(380 ml) R100.00
MDFSA would also like to say a big thank you to Tamryn Oosthuizen for
designing the beautiful artwork for our fundraising campaigns free of
Did you know?
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.
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
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
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.
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
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://
By Erica Zahn
Published online by
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?
Myasthenia Gravis are
Fancy Words For: I Have a
They all had or have a neurological
disease that affected
their muscles called Myasthenia
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
Article available at: https://patientworthy.com/2015/11/11/myasthenia-gravis-mg-fancy-words-rare-disease/
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
a) aerobic activity or
activities or resistance
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
• Make a note of what you can
do and for how long.
• Start with what you can do
• 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
across the week to fit in with
your lifestyle and other home/
• Something is better than
• 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
• To exercise at a moderate
intensity, you will:
o feel warmer and perspire a
o take deeper breaths, but still
be able to talk comfortably in
full sentences (try repeating
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
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
What type of
For example, walking
to work, wheeling your
of daily living, cycling,
swimming or static
How often? How hard? How long? What do I need to
be careful of?
Try to make
part of your
daily routine or
try to be active
in these ways at
least five times
of breath but
still able to talk;
Scale 3 to 5.
for at least
Do not exercise to
Use the Borg RPE
Scale as a
Any activity that uses
large muscle groups
and that can be
rhythmically for a
b) Strengthening activities or
• Can include working against
the force of gravity, using your
own body weight, lifting small
weights or pulling elastic exercise
• Generally, strengthening activities/exercises
involve the major
• 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
• 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
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
• Ideally you should do strengthening
exercises at least twice
a week (UK Chief Medical
Officer’s Physical Activity
• 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
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.
How hard should the
strengthening exercises be?
• Low- to moderate-strength
(resistance) exercises are safe
for most people with musclewasting
• 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
• Increase the number of repetitions
rather than the weight you
• 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
What type of
Using exercise bands,
small weights or Tai
work style exercises.
seek advice about
which muscles to
How often? How hard? How long? What do I need to
be careful of?
At least twice a
One set of
three sets as
you are able.
increase number of
repetitions rather than
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
• 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
• A number of very rare neuromuscular
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
• Please take care that you do
not over-stretch weak muscles
or joints that are already very
• 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
• 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
• Try to hold each stretch for
• The stretch should be slow and
sustained, with no bouncing.
What type of
seated or standing),
Pilates or yoga.
Static or passive
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.
30- to 40- Second
Repeat two to four
Do not ‘bounce’.
If you have impaired
or absent feeling or
no appreciation of
If you are able to walk as an exercise, consider using the Active 10 app:
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
Article available at: https://www.musculardystrophyuk.org/wp-content/uploads/2021/02/
We would like to thank
Department of Social
Province) for aiding us with
a much needed vehicle. This
will enable us to reach all
our special members.
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
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
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
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
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
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
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
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
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
15. Is there always a family
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
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. At what age does it usually
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
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’
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
21. Can I improve muscle
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
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
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
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,
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.
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.
PUBLISHED ONLINE BY
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
What is myasthenia gravis?
Myasthenia gravis is a chronic autoimmune,
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
What are the symptoms of myasthenia
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
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
People with myasthenia gravis may
experience the following symptoms:
• weakness of the eye muscles
(called ocular myasthenia)
• drooping of one or both eyelids
• 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
What causes myasthenia gravis?
Myasthenia gravis is an autoimmune
disease, which means the immune
system—which normally protects the
body from foreign organisms—mistakenly
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
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
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
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
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
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
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
• 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
• 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)
• 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
• 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.
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
• 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)
• 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.
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
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
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
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
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.
A must watch movie!
The Fundamentals of
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
Not suitable for younger viewers – Ed.
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
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
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
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.
CapeNature. ©2021. Rocherpan Nature Reserve.
Wikipedia. 2019. Rocherpan Nature Reserve. Last edited
6 November 2019. https://en.wikipedia.org/wiki/Rocherpan_Nature_Reserve
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
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
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
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.
Your support means hope.
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
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….
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
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
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
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
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
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
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
Click on the following link to
take a flip and a fall with Aaron:
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
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,
“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
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,
the dudes sat down to talk about how FA affects
their lives ‒ and helps to create some of those big
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
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
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
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
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.
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
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/
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
• 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
• 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.
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.
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!
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
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/
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.
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/
Rosna, E. 2020. Adverse effects of prolonged mask
use among healthcare professionals during COVID-19.
Journal of Infectious Diseases and Epidemiology,
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
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
It's the bits in between that are
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
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
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
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!
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
• Wool string
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
Kapadia, Palak. 2020. Best out of waste for creative kid’s project. July 7. https://sheroes.com/articles/
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.
Is newborn screening available for
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
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.
The monkey on
By Andrew Marshall
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
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”
‒ 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.
EXON 45 SKIPPING
THERAPY FOR DMD
SHOWS SAFETY IN
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
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
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
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
“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-
SCIENTISTS EDGE CLOSER
TO TREATMENT FOR
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
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
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
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
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
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
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
"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://
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
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
The webinar was sponsored by the ALS Association, the
Cystic Fibrosis Foundation, and the Muscular Dystrophy
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
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.
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
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,”
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
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,”
“More troubling,” he said, “is a South African
variant, which may be less well-covered.”
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
Article available at: https://musculardystrophynews.
Myth: Vaccines are unsafe and normal safety protocols
have been circumvented to fast track their authorisation
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
Myth: Big businesses are pushing vaccines to improve
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
Article available at: https://www.gov.za/covid-19/vaccine/
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
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
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
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
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
WHAT IS IT LIKE LIVING
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
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
Help and Connection after a Diagnosis of Duchenne
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
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
Maintaining Mobility with Duchenne Muscular
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
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
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.”
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
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
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
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
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/
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.
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
firstname.lastname@example.org 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.
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.
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.
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.
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
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
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.”
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
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
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.