Winter Issue 59
GUESS WHO IS ON THE TELLIE?
05 MDF notice board
06 National news
10 MD information
10 Symptoms of Facioscapulohumeral Muscular Dystrophy
12 Limb-Girdle and Distal Muscular Dystrophies
19 MTN Walk the Talk with 702
20 Danny Kurtzman designs for life
21 Mountains to climb
22 Duchenne teen hits the runway
24 I am God’s masterpiece
26 It’s beautiful. It’s worth it. It’s parenting…
28 Slaying warrior
29 South African participation in ICGNMD
30 MRI-guided biopsy shows promise for clinical trials
31 Serum creatinine levels reflect disease severity in
muscular dystrophy patients
32 The view from down here
33 Doctor’s corner
34 Sandra’s thoughts on...hands
36 On the spot, Scott…
37 Kiddies corner
38 Living well with a disability
41 Tips for emotionally coping with Duchenne muscular
C O N T E N T S
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Managing Editor: Gerda Brown
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Cover photo of TV advert 2019
(Deadline: 1 November 2019)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profit organisation that supports
people affected by muscular dystrophy and
neuromuscular disorders and that endeavours to
improve the quality of life of its members.
WHEN WAS THE LAST TIME YOU TRIED SOMETHING NEW?
Trying new things can be very stressful. The fear of the unknown makes us all
nervous. The fact that we must leave our comfort zone puts us in a vulnerable
position and leaves us with a multitude of questions running through our heads.
“Should I be doing this? Can I do this? Do I look stupid? What am I doing!?”
While it may not feel like it, this is normal and it’s good.
All too often we let the fear of the unknown stop us from trying something, but
pushing ourselves is actually good for us. Trying new things not only helps us
overcome fears but also allows us to expand our minds and learn from new
experiences … and then there’s the rush! There’s nothing quite like the buzz
of a new experience.
I am not saying you have to try something outrageous like jumping out of a plane or joining the circus
(unless that is something you want to do …) but, to be honest, trying something that’s foreign might just make
you feel you’re outrageous anyway and leave you with memorable and positive emotions.
But you don’t have to do something entirely new. Enhancing experiences that already make you happy is
another way to try something “new” in a less intimidating form. It can be quite boring following the same
monotonous routine day in and day out.
The possibilities are absolutely endless when it comes to trying something new, and whether it is extreme or
just a small hop outside your comfort zone you’ll still reap the benefits. So … go on an adventure, meet new
people, learn a new skill, and do the things that set your soul on fire!
Thank you, Foghound Studios, for producing an
amazing advert about the Muscular Dystrophy
We are most grateful for your support.
Foghound Studios offer a complete, in-house and cost-effective solution to
television and radio commercials, event production and content production.
They are passionate about delivering quality and value on deadline and within
Thank you, e-TV for airing our advertisement, for
the whole year, to create awareness about muscular
We are most grateful for your support.
Subscription and contributions to
We publish three issues of MDF
Magazine a year and you can subscribe
online to the magazine or by calling
your nearest branch.
If you have any feedback on our
publications, please contact the
National Office by e-mail at
firstname.lastname@example.org or call 011
Get all the latest news on the fight
against muscle-wasting conditions and
the latest research updates. It is our
editorial policy to report on
developments regarding the different
types of dystrophy but we do not
thereby endorse any of the drugs,
procedures or treatments discussed.
Please consult with your own physician
about any medical interventions.
If you are interested in sharing your
inspirational stories, please let us know
and we'll be in touch to discuss this
with you. The Foundation would love
to hear from affected members, friends,
family, doctors, researchers or anyone
interested in contributing to the
magazine. Articles may be edited for
space and clarity.
MDF SA database
If you know people affected by
muscular dystrophy or neuromuscular
disorders who are not members, please
ask them to contact us so that we can
register them on our database. If we do
not have your current e-mail and postal
address, please contact your branch so
that we can update your details on our
How can you help?
Branches are responsible for doing
their own fundraising to assist members
with specialised equipment. Contact
your nearest branch of the Muscular
Dystrophy Foundation of South
Africa to find out how you can help with
fundraising events for those affected
with muscular dystrophy.
Crossbow Marketing Consultants (Pty)
Ltd are doing invaluable work through
the selling of annual forward planners.
These products can be ordered from
Crossbow on 021 700-6500. For
enquiries contact the National Office by
MDF support information
For more information about the Muscular Dystrophy Foundation, the benefits of being
a member and details on how to become a member, call your nearest branch..
e-mail at email@example.com or call
Tel: 011 472-9703
Address: 12 Botes Street, Florida Park,
Banking details: Nedbank, current account
no. 1958502049, branch code
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
Banking details: Nedbank, current
account no. 2011007631,
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
Banking details: Nedbank, current
account no. 1958323284
branch code 192841
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
KZN BRANCH (KZN & part of
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Banking details: Nedbank, current
account no. 1069431362
branch code 198765
General MD Information
Tel: 021 794-5737
Tel: 011 472-9824
Win van der Berg (Support Group)
Tel: 021 557-1423
Maxine Strydom (Support Group)
Tel: 031 762-1592
Cell: 083 290 6695
Jan Ferreira (Support Group – Pretoria)
Cell: 084 702 5290
Tel: 012 667-6806
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Cell: 079 885 2512
Tel: 012 664-3651
Cell: 083 66 66 270
Friedreich Ataxia (FA)
Cell no: 084 405 1169
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Tel: 011 640-1531
Tel: 017 683-0287
NICE TO MEET YOU!
The Muscular Dystrophy Foundation started from humble beginnings with voluntary workers in back rooms of our
members’ residential homes. The then Muscular Dystrophy Research Foundation of South Africa (MDRF) was founded
in 1974 by Mr and Mrs Newton Walker, who at the time had a son affected with Duchenne muscular dystrophy. They
felt there was a need to reach out to other parents and families in a similar situation and also to support research into
this disease with the ultimate goal of finding a cure. Today the Muscular Dystrophy Foundation of South Africa has
grown into a registered non-profit organisation consisting of a national office and three branches which operate in the
nine provinces of South Africa.
Having been in business for over 45 years, we're proud of the team we've built. Our team of talented, experienced and
motivated professionals are dedicated to improving the lives of those affected by muscular dystrophy.
Gerda Brown (General manager)
Mariam Landers( Social Auxiliary Worker), Jade
Fairbridge( Social worker), Vanessa Jordaan
,Zukiswa Peza ( Social Auxiliary Worker) and
Vuyokazi Nkonzombi( Social Worker)
Back: Robert Scott (Business development
specialist), Rabie Modisane (General Manager),
Beauty Mathebula (Social worker)
Front: Mulanga Kharidzha (Social worker),
Rudzani Mukheli (Social Auxiliary Worker),
Kagiso Mukuchane (Social Auxiliary Worker)
Left to right: Noel Pillay (Chairperson);
Raj Mahadaw (Treasurer); Debra Goldstone
(Administrator) and Lovina Mahadaw
• National Office – Tel. 011 472-9706
• Gauteng Branch – Tel. 011 472-9824
• KwaZulu-Natal Branch – Tel. 031 332-0211
• Cape Branch – Tel. 021 592-7306
For many years Casual Day has been a steady favourite on the calendar of many
of South Africa’s businesses, with some corporates sponsoring stickers for their
entire staff complement as a corporate social investment initiative. Approximately
4 500 companies, 100 schools and 400 organisations rendering services
to persons with disabilities are participating. This year Casual Day takes place
on Friday, 6 September 2019. The theme for this year is “Time to Shine with
Persons with Disabilities”.
Casual Day is one of the fundraising events that we participate in every year in
order for us to raise much-needed funds towards our cause. We are appealing for
your kind participation in this fundraising event by purchasing Casual Day stickers.
You may purchase stickers, as many as you want, at the price of R10.00 per
sticker. Of this amount, MDF will receive R4.00 per sticker. You can purchase
your stickers at your nearest branch.
We hope that you will be able to assist us as your participation will go a long way towards making a difference in the
lives of our members.
GUESS WHO IS ON THE TELLIE?
Thank you to Foghound Studios for our lovely new television advert, and to e.tv for airing it for the year. We are most
grateful for your support.
We are most grateful for your support and wish to express
our deep gratitude to your company for the amount of
R116 000 received towards purchasing motorised wheelchairs
for people in need. We appreciate your care and concern for
the needs of people affected with muscular dystrophy.
MUSCULAR DYSTROPHY FOUNDATION OF SOUTH AFRICA
ANNUAL GENERAL MEETING
Notice is hereby given of the Annual General Meeting of the Muscular Dystrophy Foundation to be
held on Saturday, 28 September 2019 at the following venues:
Cape Branch – 3 Wiener Street, Goodwood
Gauteng Branch / National Office –12 Botes Street, Florida Park, Roodepoort
KwaZulu-Natal Branch –Office 7, 24 Somtseu Road, Durban
The national AGM will be held via skype after the branch AGMs. Please remain at the
RSVP: Please let the relevant branch know by 14:00, Monday, 9 September 2019 if you are coming,
so that we may arrange refreshments.
Cape Branch: 021 592-7306
Gauteng Branch: 011 472-9824
KwaZulu-Natal Branch: 031 332-0211
If you are not able to attend the AGM, please nominate a proxy on the form below. Kindly post or
email the completed form to the relevant branch.
Cape Branch: 3 Wiener Street, Goodwood, 7460 or email Vanessa at
Gauteng Branch: PO Box 605, Florida Hills, 1716 or email Robert at
KwaZulu-Natal Branch: PO Box 510, Durban, 4000 or email Debra at
Registration and networking start at 9:30 and the meeting starts at 10:00. Please remain for the
national AGM at the National Office at 12:00, which will be conducted via Skype. Reviews of the
year’s activities will be discussed and the audited financial statements will be available for perusal. A
new executive committee will also be elected. You are cordially invited to nominate new members in
the space provided on the proxy form. Kindly post or email the completed form to the relevant
The previous minutes and the audited financial statements will be available on request from our
offices. Should you require any further information, please contact the relevant branch.
We are looking forward to see you at the AGM!
MDFSA Executive Committee
I/We will be attending the Annual General Meeting on Saturday, 28 September 2019.
Number of people attending:
Nominees for Executive Committee:
If you are unable to attend, please fill in the following section:
I, …………………………………………………………………………., of ………………………………………………………………………,
being a Member of the FOUNDATION, hereby appoint ……………………………………………………………………,
of ………………………………………………………………………, or failing him/her, the Chairperson at the said
meeting, as my proxy to vote for me and on my behalf at the Annual General Meeting of the
FOUNDATION to be held on 28 September 2019 and at any adjournment thereof.
Unless otherwise instructed, my proxy may vote as he/she thinks fit.
Symptoms of Facioscapulohumeral
Facioscapulohumeral muscular dystrophy is a heritable
muscle disease, often called FSH or FSHD. Progressive
weakening and loss of skeletal muscle are its major effects. It
has significant medical and health impacts on individuals,
families, and society. (It is also known as Landouzy-
Dejerine disease, after the two French neurologists who first
documented it in the late 19th century.)
By the FSH Society
FSHD is among the most common forms of muscular dystrophy,
affecting children and adults of both sexes. The cardinal
feature of FSHD is the progressive loss of muscle strength.
The disease’s name comes from the typical pattern of weakness
at onset: the face (facio), shoulder girdle (scapulo),
and upper arms (humeral). However, the disease can differ
in the typical initial pattern of weakness: not every patient
experiences facial muscle loss, and many develop muscle
weakness in the legs and torso.
The symptoms can develop at any age, from infancy through
advanced age. Many patients recall being unable to whistle,
smile, or close the eyelids as a child. The majority of males
are diagnosed by age 20 and females by age 30. About 4
percent of cases are diagnosed in children under the age of
5. These early-onset or infantile-onset (iFSHD) patients are
at greater risk of having more severe symptoms and added
Although the progression of FSHD is variable, it is usually
relatively slow. Asymmetry is a hallmark of FSHD. Most
patients will observe that one arm (or shoulder blade, or
lower leg) is weakened, while the other remains stronger. The
reason for this asymmetry is unknown.
A common first sign of FSHD, asymptomatic
scapular fixator causing scapular winging and
difficulty reaching above the shoulder level. Note
Early weaknesses of the muscles of the eye (difficulty
closing the eye) and mouth (difficulty smiling, puckering the
lips, or whistling) are distinctive for FSHD. Facial weakness in
combination with weaknesses in the muscles that stabilize the
shoulder blades, which result in “winging” of the scapula, is
often the basis of the physician’s initial diagnosis of FSHD.
As the disease progresses, the lower and upper leg muscles
are often affected. About 20 percent of FSHD patients overall
will become dependent on a wheelchair or scooter.
Weakness in the abdominal muscles can cause a protuberant
abdomen and lumbar lordosis (“sway back”). The lower
abdominal muscles are usually weaker than the upper
abdominal muscles. This results in a movement of the navel
toward the head upon flexing the neck. Doctors call this a
positive Beevor’s sign; it is not seen in many other diseases
and is a physical characteristic very specific to FSHD.
FSHD can also have the following non-muscular
manifestations: high-frequency sensorineural hearing loss in
ears, respiratory insufficiency, abnormalities of blood vessels in
the back of the eye, and non-symptomatic cardiac arrhythmias.
In more than half of people with FSHD, high-frequency
sensorineural hearing loss occurs in both ears; this should
be checked in children and adults experiencing hearing
Approximately half of FSHD cases also involve
abnormalities of blood vessels in the back of the eye, but
these lead to visual problems in less than 1 percent of cases.
Since these abnormalities are not exclusive to FSHD, one
must bear in mind that their presence alone in someone at risk
for having FSHD is not sufficient for a diagnosis of FSHD.
Respiratory insufficiency is a more common problem,
especially among patients who have become scooter or
wheelchair dependent. These patients should have an annual
consultation with a pulmonologist to monitor respiratory
function and blood carbon dioxide.
Symptoms or signs can (but don’t always) include:
• inability to whistle;
• inability to sip through a straw;
• eyes that don’t close fully during sleep;
• difficulty with sit-ups and pull-ups;
• shoulder blades that “wing” out;
• difficulty raising arm above shoulder height;
• foot drop (foot dorsiflexion weakness);
• difficulty walking, climbing stairs, or rising from a seat;
• weak lower abdominal muscles, protuberant abdomen,
• curved spine (lordosis).
Individuals with FSHD, particularly with more advanced or
severe cases, can also experience:
• episodes of “malaise” or “burning pain” in muscles;
• severe pain from changes in posture and strain on
• chronic fatigue;
• respiratory insufficiency (potentially life threatening);
• symptomatic hearing loss;
• Coats’ disease (symptomatic retinal vascular disease),
though this is rare.
Article available at: https://www.fshsociety.org/what-is-fshd/
Summary of evidence-based guideline for patients
and their families
LIMB-GIRDLE AND DISTAL
By the American Academy of Neurology (AAN) and American Association of Neuromuscular &
Electrodiagnostic Medicine (AANEM)
This fact sheet is designed to help you understand the
current evidence for diagnosing and managing limb-girdle
muscular dystrophy (LGMD) and distal muscular dystrophy
The American Academy of Neurology (AAN) is the world’s
largest association of neurologists and neuroscience
professionals. Neurologists are doctors who identify and
treat diseases of the brain and nervous system, including
neuromuscular disorders. The American Association of
Neuromuscular & Electrodiagnostic Medicine (AANEM)
is an association of neurologists, doctors of physical
medicine and rehabilitation (PMR), and other health care
professionals. PMR doctors specialize in rehabilitation.
The AAN is dedicated to promoting the highest quality
patient-centered neurologic care. The AANEM is dedicated
to advancing the care of patients with muscle and nerve
Experts from the AAN and AANEM carefully reviewed
the available scientific studies on diagnosing and managing
LGMD and distal MD. The following information* is based
on evidence from those studies. The information summarizes
the main findings of the 2014 AAN and AANEM guideline
on LGMD and distal MD.
What are LGMD and distal MD?
LGMD and distal MD are types of muscular dystrophy (MD).
MD is a group of several different genetic diseases. It causes
muscle “wasting” (thinning). This affects the muscles of the
arms and legs. In some cases it may affect:
• Muscles of the face
• Muscles that control breathing and swallowing
The muscle weakness is progressive. This means the muscle
damage gets worse and spreads over time to involve other
muscles. Muscle weakness can make it difficult to move or
to lift objects. It also affects posture, or the ability to hold the
LGMD is a group of several known disorders, sometimes
referred to as “subtypes.” It gets its name from the
muscles it affects most. “Limb girdle” refers to the hip and
shoulder areas, where the limbs attach to the body. The
affected muscles are also called “proximal” muscles. These
are the muscles closest to the center of the body. The muscles
farther away are called “distal.” Examples of distal muscles
are muscles of the hands and feet. Overall, LGMD mainly
affects the muscles of the arms and legs. It can sometimes
affect muscles that control facial movement and swallowing.
However, some LGMD subtypes can cause heart problems.
These include weakening of the heart muscle and abnormal
heart rhythm. Some subtypes also can lead to breathing
LGMD typically develops during childhood or early
adulthood. However, babies, young children, and the elderly
also can be affected. The severity of the disease differs across
subtypes. Some subtypes are mild and mainly cause muscle
pain. Others can lead to increasing weakness and loss of
mobility. People who show symptoms of weakness at birth or
as babies usually get worse faster and have worse symptoms.
Early symptoms typically include:
• Muscle weakness in the hips and legs that causes the
person to “waddle”
• Difficulty standing up, sitting down, or climbing stairs
• Trouble reaching overhead, stretching out the arms, and
carrying heavy objects
Over time, more severe symptoms may develop in some
subtypes. These include:
• Heart problems such as irregular heart rhythm
• Trouble breathing or swallowing
In addition, some subtypes of LGMD and distal MD may
• Early onset of “foot drop” (inability to lift the foot up)
• Arms or legs that no longer straighten
• Muscle cramps
• Abnormally prominent shoulder blades (these are referred
to as “winging”)
• Enlarged calves (lower legs)
LGMD and distal MD complications require many types of
• Genetic counselling and testing
• Monitoring for and treatment of heart problems
• Monitoring for and treatment of breathing problems
• Speech and language therapy (for speech and swallowing
• Nutritional support (for weight loss from swallowing
• Orthopedic therapy or surgery (for muscle problems and
• Physical and occupational therapy, including gentle
• Monitoring for symptoms of sleep problems
• Medical screening for possible infection (yearly flu shots)
These therapies involve many types of health care providers.
Moderate evidence* shows that care should be coordinated
through treatment centers specializing in MD.
Recommendations for Clinicians to Manage Complications
Cardiac (Heart) Problems
• New diagnosis of LGMD or distal
• Specific genetic diagnosis of
LGMD or distal MD
• Abnormal ECG or structural heart
• Episodes of fainting, near fainting,
or heart beating fast
• Irregular heartbeat
• Heart beating unusually fast
• Signs or symptoms
• Diagnosis of LGMD or distal MD,
especially if breathing problems
• High risk of lung or breathing
• Refer to heart specialist for
cardiac (heart) evaluation, even if
• Order heart rhythm evaluation
(Holter monitor or event
• Refer for cardiac (heart)
• Order evaluation or testing of
• Refer for evaluation or regular
testing of lung/breathing
For a summary of the main recommendations for
management, see the table below.
More studies are needed to understand better:
• How many people these diseases may affect
• The connection between genes and signs/symptoms of
• How to manage serious complications such as heart and
Strength of Evidence*
• Extreme daytime sleepiness
• Poor quality of sleep
• Breathing problems (not enough
air coming in)
• Refer for lung/breathing or sleep
evaluation for possible use of
Swallowing and Nutrition Problems
• Trouble swallowing
• Problems with foods or liquids
going into the lungs by mistake
• Weight loss
Spinal Deformities and Weak Bones
• Any diagnosis of LGMD or distal
• Spinal deformities
• Refer for evaluation of
swallowing and digestion for:
o Techniques for safe and effective
o Possible placement of a
swallowing tube (tube placed in
the stomach and small intestine to
help provide food and nutrients)
• Monitor for development of spinal
deformities (a spine that is not
• Refer to an orthopedic back
surgeon for monitoring and surgery,
• Limited or no mobility • Test for weak or fragile bones Weak
• Any diagnosis of LGMD or distal
• Any diagnosis of LGMD or distal
Strength Training and Exercise
• Any diagnosis of LGMD or distal
MD in people who exercise
• Any diagnosis of LGMD or distal
• Recommend pneumonia vaccine
according to the CDC schedule1
• Recommend yearly influenza (flu)
• Refer to a clinic with access to
multiple specialties designed for
the care of people with diseases of
the muscles and nerves
• Recommend evaluation by a
physical or occupational therapist
• Anticipate and facilitate patient
and family decision-making
related to advancement of disease
and end-of-life care
• Prescribe as needed:
o Physical and occupational
o Tailored bracing and assistive
devices (such as canes or
• Educate about signs of muscle
weakness and damage from
• Educate about safety of aerobic
exercise with supervised mild
strength training program
• Advise about the benefits of
gentle, low-impact aerobic
• Counsel about staying hydrated
and exercising moderately
CDC = Centers for Disease Control and Prevention; distal
MD = distal muscular dystrophy; ECG = electrocardiogram;
LGMD = limb-girdle muscular dystrophy
See complete guideline for complete set of recommendations.
Some recommendations apply to specific subtypes or
groups of subtypes.
The Jain Foundation and the Muscular Dystrophy Association
(MDA) reviewed the content of this fact sheet. Some information
on disease background was provided by the MDA
1. Bridges CB, Woods L, Coyne-Beasley T; Centers for
Disease Control and Prevention ACIP Adult Immunization
Work Group. Advisory Committee on Immunization Practices
(ACIP) recommended immunization schedule for adults
aged 19 years and older—United States, 2013. MMWR Surveill
Summ 2013;62(Suppl 1):9–19.
This guideline was endorsed by the American Academy of
Physical Medicine and Rehabilitation, the Child Neurology
Society, the Jain Foundation, and the Muscular Dystrophy
*After the experts review all of the published research studies,
they describe the strength of the evidence supporting
Strong evidence = future studies very unlikely to change the
Moderate evidence = future studies unlikely to change the
Weak evidence = future studies likely to change the conclusion
Very weak evidence = future studies very likely to change
Article available at: https://www.aan.com/Guidelines/Home/
AUGRABIES FALLS NATIONAL PARK
One should always be careful of perceptions. They have a
way of surprising you, fortunately sometimes in a positive
manner. We have always wanted to visit Augrabies Falls
National Park in the Northern Cape province but could never
justify travelling that distance (over 1 000 km) for what we
believed to be no more than a morning's viewing.
There is a famous statistic that the average amount of time
spent by tourists at the Grand Canyon in the United States of
America is 40 minutes. It's approximately the time it takes
you to walk from the car park to the edge of the viewing
area, be awestruck by the view, realise that there is not much
more to do once the photographs have been taken, and the
walk back to your car. We had the same perception with
Augrabies Falls National Park. During a recent trip to
Kgalagadi we decided to append Augrabies Falls National
Park onto our journey (a detour of approximately 100 km) to
see it for ourselves. No problem, just an overnight stop and
we could tick it off our list… .
It was February and really hot, hovering in the mid-40
degrees during by midday, which was about the time we
arrived at the falls after checking into our BnB. The plan was
to do the falls, spend our 40 minutes there, take photographs,
and then have the rest of the time free for further exploration.
Loretta took one look at the cross-country course which was
labelled as the wheelchair friendly path down to the falls and
declared that she might be able to get me down there but
certainly wouldn't be able to get me back up again! It was
scorching hot, and the accessible path was anything but.
We retired to our BnB and hatched another plan, extending
our stay and aiming to tackle the falls at 7 the next morning
when the gates opened and the temperatures would be more
manageable. Plan B worked like a charm and we were able
to spend all the time needed at the falls, listening to the sound
of the rushing water and the multitude of birds, reptiles and
other creatures who call the precarious cliff faces their home.
The wheelchair accessible boardwalk was manageable with
assistance (really strong assistance) but the first portion
between the reception area and the boardwalk is just a crazy
cross-country jumble of sand and stones. We discovered
afterwards that if one drives past the reception area to
accommodation Unit 51, just across the small car park
from the swimming pool, one can gain easy access to the
boardwalk and follow a far more manageable path. Sections
of the boardwalk are however very steep and need to be
handled carefully, even in dry conditions.
It was at this point in the day that we encountered our
perception changer. We embarked on a 90 km round trip
along the Wilderness Road, which carries one west for nearly
three hours to the kokerboom forest and then returns on a
loop road. The falls were impressive and interesting, but the
road trip through the park was awe-inspiring! The geology
is mind blowing and we were constantly shaking our heads,
wondering what sort of tectonic forces must have taken place
to create the incredible rock formations we were encountering
on the drive. Black rocks and red rocks larger than motorcars
sprinkled in huge piles as if by hand. Trees growing from
rock bases with no apparent soil. Fields of quartz, the pieces
ranging in size from larger than your fist to smaller than your
thumbnail, stretching down the hillsides, almost looking like
snow in the bright sunlight. Sadly the kokerboom forest at
the end of the Wilderness Road has been fenced off and
electrified to prevent damage from traffic and tourists.
Fortunately we encountered enough amazing old
kokerbooms along the way to satisfy our needs, some even
sporting huge sociable weaver nests in their branches. We
encountered giraffe, kudu, springbok, baboon, vervet
monkeys and even noticed the paw prints of a rather large
cat in the road. Leopard? Caracal? The birdlife is plentiful,
from the smaller bush birds to the larger raptors, and even a
fish eagle flying down the canyon. Along the route we were
able to detour to lookouts which provided different views
of the canyon and further opportunities for some dramatic
We had tried to book accommodation inside the park but
been told that a large motor vehicle manufacturer had
booked the entire camp for the month of February. We
managed to source a wonderfully wheelchair accessible room at
Augrabies Valle Guesthouse, less than 1 km from the gate, for
two-thirds of the SANParks price. When we were making
enquiries about the wheelchair accessible cottages at the park’s
reception, the staff seemed surprised we had not booked with
them, which made sense because there was very little sign of
the motor vehicle manufacturer’s test vehicles in the park.
The park’s wheelchair accessible chalet (CH2Z) was not
really accessible despite the park’s hospitality manager very
proudly telling us about its conforming to “universal access”
standards. She could not explain why the dining table was
the height of a serving counter, and despite my having an
extremely narrow wheelchair I was not able to gain entry to
the unit through the paved entrance. I would have to tackle
another cross-country track in order to reach the front door,
impossible alone and very difficult even with assistance. An
exercise in why the concept of “universal access” just doesn't
work. We were very happy to have booked accommodation
outside of the park.
Augrabies Valle Guesthouse is something of a gem. Whilst
not perfectly wheelchair accessible, it is far better than
most. Ridiculously spacious (one could hold a not-so-small
party in the living room), with an equally large bathroom
sporting a roll-in shower and plenty of lateral access to the
toilet. Its only downfall was the lack of grab rails. The room is
self-catering with a superbly equipped kitchen, all accessed
from a large level veranda which is connected to the car park
via a gentle ramp. Just 1 km back down the road one finds the
privately run Augrabies Falls Lodge, which is really the best
choice for dinner and is accessible to boot. The two combine
effortlessly to make staying outside the park a no-brainer.
SANPark accommodation failures aside, Augrabies Falls
National Park is more than just the waterfall, much more.
When the Orange River is in flood it must be spectacular
and the noise of the water rushing over the falls must be
deafening. But even on a normal day in February it was
worthy of a couple of days spent exploring the entire park,
which took us a little longer than the obligatory 40 tourist
SAVE THE DATE
SEPTEMBER IS MD
Because public knowledge of muscular dystrophy is
limited, attitudes towards people with muscular dystrophy
are sometimes based on ignorance and can cause
humiliation. Some might even believe that people with
muscular dystrophy could do more if they just tried
harder, or that they pretend to be unable to do something
because they just don’t want to, and that if they were just to
exercise more they would become stronger. When people
are properly informed about muscular dystrophy, their
attitudes and behaviour towards affected people
become more reasonable and sensitive; thus, discussing
disability increases understanding and tolerance. This
helps to minimise the psychological stress that muscular
dystrophy sufferers might otherwise experience when
interacting with others.
September is International Muscular Dystrophy
Awareness Month, which is an important time for all
persons affected by muscular dystrophy. In order to
celebrate this special month, the National Office will run
an online awareness programme called “Get into
the Green Scene” – green being the colour of the
muscular dystrophy awareness ribbon.
The objectives of the programme are two-fold:
Firstly, all the MDSA Facebook followers are
requested to change their Facebook and WhatsApp
profile pictures to the “Get into the Green Scene”
Secondly, our Facebook followers and members
are invited to share photos on our Facebook wall
of where they have “gone green”.
Please contact Gerda Brown by phone
(011 472-9703) or email (firstname.lastname@example.org.
za) should you have any enquiries.
Let the creative juices flow and show us how you
“go green” for muscular dystrophy!
MTN Walk the Talk with 702
By Gerda Brown
The sun rose on the chilly Sunday morning
of 28 July 2019. Along with thousands of
others, the Muscular Dystrophy Foundation was
making their way to MTN Walk the Talk with
Our mission was simple, raise awareness for
muscular dystrophy by taking part in the 5km
and 8km fun walks. The group doing the 5km
walk made their way to the start line a little
after 11:00 and crossed the finish line at
approximately 12:15. This was no straight
forward walk; we were doing so while pushing
a manual wheelchair with a person affected by
muscular dystrophy. Along the way we were
joined by a very special boy, also affected by
muscular dystrophy, and his family.
Thank you to everyone who joined us on the
day and made the MTN Walk the Talk with 702
an overwhelming success for MDFSA!!
Remember to keep the end of July open in your
diaries to join us next year.
DESIGNS FOR LIFE
By June Kinoshita, FSH Society
Originally published in FSHD Advocate
2019, Issue 1, p.14
The headquarters of Ezekiel Clothing is tucked in
a bland office park in Irvine, California, but inside
it’s anything but bland, with its too-cool-for-school
interior of concrete, charred timber, and smoky steel.
When I arrived there, tapping tentatively on an
unmarked, tinted glass door, I wondered if I had come
to the right place. Soon, a shadow darted up behind
the dark glass, and the door swung open to reveal
Danny Kurtzman, perched on a red scooter.
Kurtzman, 31, is co-owner of the company. With
his russet hair, trim beard, and piercing gaze, he is
an undeniable presence. Although FSH muscular
dystrophy has taken a toll on his muscles, his mind
is constantly on the move, twirling and swooping like
the surfers and skateboarders to whom his clothing
Kurtzman and his younger brother (who passed away
in 2008 from FSHD) were diagnosed in childhood.
“My parents told me and my brother that you’re
going to public school. You’re playing baseball. You’re
not made out of glass,” he said matter-of-factly. That
can-do attitude shaped how his friends saw
him. “They never looked at me like ‘you have a
After graduating in 2009 from Loyola Marymount
University in Los Angeles, where he studied business
administration in entrepreneurship and marketing,
Kurtzman went into the family’s garment manufacturing
business. The company bought Ezekiel Clothing,
which does private label for retailers like Nordstrom
Rack and Stitch Fix, and Kurtzman mastered the
complexities of running the enterprise.
On the day of my visit, Kurtzman was excited about
his latest brand, ALDAY Denim, a line of knit denim
men’s pants that combines the comfort of sweatpants
with the swagger of denim. His team was about to
launch a Kickstarter, which would raise $67,000 to
jump-start the brand. Kurtzman is passionate about
great design, particularly universally accessible
design. He invested in WHILL, a company that makes
wheelchairs with the sleek appeal of an iPhone, and
offered advice to improve the design. He recently flew
to San Francisco for a two-day hackathon at Google,
putting together a wheelchair that can be controlled
by an Android app.
Outspoken in his belief that “FSHD doesn’t define
me,” Kurtzman is an avid supporter of Life Rolls On,
a California nonprofit dedicated to improving the
quality of life for people with disabilities through
adaptive skateboarding and surfing.
Right now, Kurtzman is completing an extensive
renovation of his new home in Costa Mesa. The
house embodies universal design, he said proudly,
with all smart home features, zero steps or
thresholds, wide doorways, and accessible
Asked about his philosophy for living, Kurtzman
replied, “Giving up isn’t a choice I give myself. I do
whatever I put my mind to, regardless of how big the
obstacle is, but that’s what makes overcoming them
that much sweeter.
“It’s been amazing meeting more people that share
the same mentality, and I hope to meet many more
through this Society,” he said. “And to those who
share this disease but not my mindset of never
giving up, feel free to contact me. Sometimes you
need a friend or a brother like the one I was very
lucky to have to kick you in the butt.”
Danny Kurtzman can be reached through his
Instagram account @heavydk.
Article available at: https://www.fshsociety.org/wpcontent/uploads/2019/04/FSHD-Advocate-Magazine-2019-Issue-1-FINAL.pdf
MOUNTAINS TO CLIMB
By Neenah Williams, Colorado Springs, Colorado
Originally published in FSHD Advocate 2019, Issue 1, p.17
I was diagnosed with FSH muscular dystrophy at the
age of 16. I am now 27 years old and have started to
feel more of its effects. From an early age, I began to
lose the ability to lift my arms higher than 90 degrees.
That never stopped me from doing the things I enjoy,
most of all dancing.
Fast forward to Christmas 2017. I was driving back
home from visiting my family, and I had a thought –
that I should do something wild and spontaneous in
2018. Life is too short, and I hadn’t been on a real
vacation in a long time. I had a truly random idea that
it would be awesome to climb Mt. Kilimanjaro.
I wasn’t sure what country Mt. Kilimanjaro is in or
what type of climb it would be. I honestly decided to
go on a whim. However, I believe that everything
happens for a reason. So I researched the climb
and, a couple of weeks later, I booked my trip to
At the time, I had never experienced weakness in my
legs. But sometime last spring or summer, I noticed
that my thighs were beginning to get the hollow
feeling that I have come to associate with rapid
muscle deterioration. About a month before my trip, I
realized that I could no longer walk on my heels, and
when hiking in preparation for my trip, I began to fall
a lot more.
A couple of weeks before I left for Tanzania, I scaled
Pikes Peak in Colorado, 14,115 feet in one day. Three
weeks later, I successfully summitted Mt. Kilimanjaro,
the highest mountain in Africa, at 19,341 feet. It
was one of the proudest days of my life. The ascent
took six days, and I carried my 15-pound daypack
the whole time. It was more weight than I had ever
carried on a hike, and was a challenge both mentally
and physically. Also, altitude sickness was a concern.
We were required to walk very slowly to keep our
heart rate down.
The hikes each day ranged anywhere from four to
seven hours. On summit day, the trek took about 11
hours, because we climbed to the summit from base
camp and then returned to a camp at a lower altitude
all in the same day.
On the day we reached the summit, I stood on top of
Mt. Kilimanjaro with about 400 other hikers, unfurled
my “Stronger than FSHD” sign, which I had made
months earlier, and took my summit photo. I wanted
to show this to all my friends who are struggling with
FSHD. I doubt anyone else on the summit that day
had FSHD, and for that I am proud. I had just begun
to notice new weaknesses in my body, but did not
allow that to stand in my way.
Many times, it feels like we stand alone against
FSHD. My advice is to take things one step at a time,
push your limits whenever you can, and soon you’ll
be standing on top of the world.
Article available at: https://www.fshsociety.org/wpcontent/uploads/2019/04/FSHD-Advocate-Magazine-2019-Issue-1-FINAL.pdf
DUCHENNE TEEN HITS
THE RUNWAY AT LAS
VEGAS FASHION SHOW
By Mary Chapman
Originally published in
Muscular Dystrophy News,
15 May 2019
Joey Chorzewski has Duchenne muscular
dystrophy, a neuromuscular disease that makes
him different from most of his peers in Marshfield,
Massachusetts. But in other ways — like wanting to
wear the same kind of clothing his friends wear —
he’s a typical teenager.
Joey Chorzewski, 18, gives the thumbs-up at the
Runway of Dreams fashion show in Las Vegas.
(Photos courtesy of the Chorzewski family)
Besides offering a variety of programs and
awareness campaigns, the New Jersey-based
foundation recently co-hosted its Zappos Adaptive
and Runway of Dreams Foundation Fashion Show
featuring 30 models with different disabilities. A
collaboration with Zappos Adaptive— a division
of the online retailer that markets to people with
disabilities — the livestreamed March 27 event
in Las Vegas spotlighted the future of adaptive
Under a large tent before the show, he and
others mingled and had their hair and makeup done.
There was food and drinks, and Zappos provided a
volunteer to help each participant. Then, Joey
motored down the outdoor catwalk in front of 2,000
spectators, stopped, did a thumbs-up with both
hands, and turned around.
“When he came out, I was like, ‘wow,’ ” his
mother said. “I was in tears. And to see how brave all
the kids are. It was awesome, more inclusive than
anything we’ve experienced.”
A future in modelling?
The whole modelling concept sprung from the
teenager’s desire to wear jeans and, well, anything
other than the myriad sweatpants he has just
because they’re easier to handle.
At the show, Joey, 18, maneuvered the runway in
his motorized chair wearing dressy black pants with
elastic around the bottom of the legs, a red shirt
with hidden magnets instead of buttons, and athletic
shoes with zippers and Velcro. His mother, Denise
Chorzewski, said in a phone interview that the Nike
outfit, which the show provided, had been adapted
At the foundation’s June 2018 show — which kicked
off Fashion Week in New York City — Joey wore a
gray fleece jacket with Velcro in the back. Because
it was his first modelling gig, he was admittedly
nervous. His second show, though, was “exciting.”
In fact, he called it the best day of his life.
“Everything was great,” said Joey, who graduates
from high school this month. “My teachers all
congratulated me and everything.”
Joey’s parents do what they can to help him feel
more fashionable, including having jeans or
khakis professionally fitted with elastic. But that’s
time-consuming and expensive. As it is, he uses
a combined standing sling and lift to help him get
his pants on. Because he can’t raise his weakened
arms that high, pullover tops are also a problem.
His mom had gotten wind of the adaptive wear
shows, and she thought it was something her
outgoing son would enjoy, even though Joey had no
“I wanted to show that people with disabilities can
wear fashionable clothes too,” she said, recalling
how 15 people were selected out of 500 applicants.
Chorzewski hopes to model again next year. An
only child who was diagnosed with Duchenne at age
3, he’s always been a bit of a ham. When he was
younger, he used to act on stage in plays.
“It made him feel alive,” his mom said. “He would
smile the entire time.”
But when he turned 12 and began using a
wheelchair, Joey didn’t want to perform anymore.
Still, he remains active. He enjoys his friends, likes
to travel and watch movies, and is a bit of a food
Joey could soon receive a robotic arm; the family
awaits an insurance decision on that. Besides his
medications, the teenager has physical therapy
three times weekly.
Adaptive clothing is big business
Despite Duchenne’s progressive nature, it’s not the
disease itself that occasionally gets Joey down.
When he’s feeling sad, it’s usually about not being
Feeling better about his clothing could help. His
parents have ordered from Zappos’ adaptive
line, and plan to order more. The division offers
everything from “wheelchair friendly” shoes and
clothing to “treatment wear.” Adaptations include
snaps and hooks instead of buttons, adjustable
hems on shirt sleeves, pant legs for those with limb
disparities, and back-of-dress openings that let
patients dress independently.
Joey Chorzewski, 18, with his
parents in Las Vegas.
The industry is already big business. According to
consultants, the global market for adaptive apparel
could reach nearly $289 billion worldwide this year,
and $350 billion by 2023.
A few years ago, after collaborating on Runway
of Dreams, Tommy Hilfiger — in partnership with
Zappos — introduced an adaptive apparel line.
Other major brands, including Target and Nike,
have since joined the fray. Yet many mainstream
retailers overlook these prospective customers,
leaving medical supply firms as the chief source of
Mindy Scheier established the Runway of Dreams
Foundation in 2015 after her young son, Oliver
— who has a rare form of muscular dystrophy —
couldn’t understand why he could not wear jeans
like other boys did.
Scheier, a fashion industry veteran, knew that sweat
pants fit nicely over Oliver’s leg braces and enabled
him to use the bathroom on his own. So she decided
to alter a pair of jeans for him.
The foundation states on its website: “Through
adaptive clothing donations, employment opportunity
initiatives, adaptive design workshops,
awareness-building campaigns and scholarship
programs, the Runway of Dreams Foundation is
empowering people with opportunity, confidence,
independence and style.”
As for Joey, his life philosophy is sanguine.
“It’s just good to stay happy,” he said. “You only live
once, so make the most of it.”
Article available at: https://musculardystrophynews.
I AM GOD’S
By Mohini Jackson
“For we are God’s masterpiece. He has created
us anew in Christ Jesus, so we can do the good
things he planned for us long ago.” Ephesians
I was born on the 31st of January 1991 in
Johannesburg to Mano and Rani Naidoo, who were
blessed with a little baby girl whom they would love
and care for. At the time I don’t think even they knew
just how special they were that God had carefully
chosen and tasked them with caring for a child with
special needs. Let me take you through the journey
of my life…
In 1996, I was diagnosed with Charcot-Marie-Tooth
muscular dystrophy. At the tender age of five I did
not understand what was happening to me and the
doctors’ rooms were a place I would visit regularly.
If I remember correctly this meant frequent trips with
mum and dad to the hospital, which to me became a
normal part of my life story. At the time, there were
so many questions, especially “what is wrong with
me?” and of course “why me?” It was time for my
enquiring mind to start writing the story of Mohini.
I cannot remember a time when I could run or jump
or be active, but that’s okay because I don’t feel I
have missed out on anything as I have had such
a full life with so many amazing experiences and
the love of so many people. I have had numerous
surgeries over the years with the most recent being
last year, in 2018, which have all helped me to walk
better, but now I have started using a wheelchair as
I can no longer walk for long periods. It took me a
long time to get to this point as I did not want to use
a wheelchair, but I have realized that if it can make
my life easier, why not?
My family have always been my driving force. My
mum, dad and older brother have been my support
throughout my life, not only taking on the task of
caring for me but never making me feel I was ever
a burden to them and always ensuring I had every
opportunity to experience the best things in life. My
parents instilled the word of God in me and always
taught me to trust in the Lord.
I attended Daxina Primary School in Lenasia South,
where I was blessed with amazing teachers and
friends who assisted me to get through day-today
activities. At that time, I was not so weak and
could get around on my own but still needed some
assistance in carrying my bags, etc. It was also the
place where I met my husband, but I’ll get to that a
bit later. I then attended the National School of the
Arts in Braamfontein, where I specialized in music.
My time there was amazing and one I am honoured
to have had. It was filled with many challenges, but
once again the Lord was watching over me and
sent me friends who became my support system
not only physically but emotionally as well – from
carrying my bags, to picking me up when I fell, and
literally carrying me to class when I did not have the
strength to make it up the many stairs.
I matriculated in 2008 and went on to the
University of the Witwatersrand to study Social Work.
Once again university proved to be a whole new
experience, with its own challenges, but I am so
grateful to have been given the opportunity to study
at such a world class institution and am proud of all
I accomplished during my time there. I remember
being terrified on the first day, trying to figure out
how I was going to navigate myself through the
campus, which is massive, and again the Lord was
on my side, watching over me, and sent me friends
who took on a pivotal role in my university journey by
assisting me around and always being there when
I needed support. Furthermore, I found a sense of
belonging at the Disability Unit, which became my
safe space, and the staff, who became like family,
were amazing in assisting to make the University
experience more accommodating. I am proud to be
a Wits graduate and hold my honours degree in
Social Work. I remember walking across the Great
Hall stage at graduation – I was so scared of falling
and couldn’t wait to get to the end, but the sense of
joy I had then was one of the best moments in my
I am currently employed as a social worker in
the Department of Social Development and
specialize in statutory work. I got married in 2015 to
Justin, whom I met in primary school, as mentioned
earlier; he still claims that he loved me from that
time. We’ve now been together for eleven years
and married for four. Having my parents walk me
down the aisle was another of the most amazing
moments in my life because I never really thought
it would happen. I am so grateful that the Lord
was instrumental in sending Justin into my life – a
man who has accepted me for who I am and loves
and cares for me as best he can. We have been
privileged to travel overseas together and hope to
have many more trips abroad; we also hope to start
our very own family soon. We are looking forward to
our future together, and even when life gets tough
we find comfort in knowing that God has a plan for
We are so blessed in sharing not only a love for
each other but also a love for the Lord. We are part
of the JLC Outreach Team, in which Justin plays
a guitar and I am a vocalist. Our vision as a team
is “Making a difference, impacting the nation”. We
have been blessed with gifts and abilities that we
want to use to bless the heart of the nation. In
doing so we not only use music to touch the lives
of people but also reach out to make a difference in
the lives of people in need.
I want this story of my life to encourage others to
know that despite their setbacks in life they are
capable of doing everything that able-bodied
people can do and should never sell themselves short.
God sends people into your life for a reason, and I
believe that every single person in my life has played
a role in defining the person I am today. When I
have bad days and my body is so weak that I
cannot move or do the most menial tasks, I cry and
get angry but then pick myself up, pray and ask God
for renewed strength.
I believe that I am God’s masterpiece. I may walk a
bit funny and look a bit different, and the world may
see me as “imperfect”, but I know that He has a plan
and purpose for my life and I am choosing to trust
in that plan.
My School Card
MySchool is South Africa’s biggest community-based
fundraising programme and raises over R4 million
every month for schools, charities and animal welfare
Every time you swipe your MySchool card at any
of the partner stores they make a donation on
your behalf to the beneficiary of your choice.
Please ask friends and family members to sign up for
a MySchool card and make the Muscular Dystrophy
Foundation of South Africa your chosen beneficiary,
which means the MDF would receive a percentage of
the purchase value whenever the card is used.
Some of the participating stores are Woolworths, Engen and Flight Centre.
Sign up at www.myschool.co.za
IT’S WORTH IT.
By Doné & Hantie Van Eyk
Muscular dystrophy was never a “household term”
in our family and was simply not something we were
familiar with until Lian came into our lives. Lian was
our little surprise “laatlammetjie” baby. With two
other children in the house (now 11 and 17 years
old), we had not been sure that we wanted more
kids until the two stripes on the pregnancy test
confirmed a brand-new baby on the way. Never in
our wildest dreams could we have imagined the joy
but also challenges that would come with this sweet
little blue-eyed boy.
Lian was born on 1 November 2019. Our small 2.4kg
boy, who could fit into a shoebox, was supposed to
make his grand entrance into this world two weeks
later but decided it was time to grace us with his
presence. Even though Lian was born two weeks
early there was no indication anything was wrong.
He was a bit “floppier” than our other children but
reached all his milestones up to six months. It was
only at about seven months that we realised Lian
didn’t lift his head anymore while lying on his tummy
and would push his head along on the floor when
he moved around. With no sign that he was about
to crawl at nine months we decided to take him to
our paediatrician, who referred us to a neurologist.
After numerous tests and a muscle biopsy the
neurologist confirmed that Lian had muscular
dystrophy. Following an initial diagnosis of LGMD
(which didn’t make any sense due to his age) we
decided to do a genetic test, which was sent off to
the United States. On 5 October 2017 we received
the final diagnosis of LMNA-related congenital muscular
LMNA-related disorders are caused by mutations
in the LMNA gene, which encodes for the nuclear
envelope proteins, Lamin A and C. The website
Cure CMD explains: “LMNA-CMD is predominately
congenital and on the severe end of the spectrum.
Affected individuals have weak neck and axil
muscles, can develop “dropped head” syndrome
and may not achieve sitting. Contractures of the,
spine, hips, knees and Achilles tendons are
involved. Scoliosis and spine rigidity can develop.
Some affected individuals can achieve walking but
will lose that ability later. Respiratory insufficiencies
develop requiring intervention. Cardiac conduction
abnormalities can occur.”
Currently Lian is still able to sit and “bum-shuffle”
although he is doing this less as it becomes harder
to do. He was never able to walk and doesn’t have
neck control. He needs to take beta-blockers to
regulate his heart rhythm and sleeps with a
BiPAP machine (oh the joy of getting a threeyear-old
sleeping with this “toy” – many will testify
how difficult it is just to get a three-year-old into
different coloured pyjamas). At the age of two
Lian got a MIC-KEY (a tube directly linked to his
stomach) to help with additional feeding as he
doesn’t gain sufficient weight. The doctors also
confirmed that Lian is already in the first stages of
Small things that come with no effort for us are a
huge challenge to him, like simply lifting his arms.
However, none of these challenges can dampen
the brave and joyful spirit of this young boy. No
matter what challenges Lian faces he always has
a smile on his face. He is a little “chatterbox” who
amuses everyone with his humour and cute
personality. He absolutely loves driving around in
his power wheelchair, chasing his brother and
sister around the house. He gets excited about
everything and is always ready for whatever life
throws at him. Obviously having a three-year-old in
a power wheelchair has caused many bumps and
bruises, and the furniture in our house needs to be
moved around a lot to make way for his adventures,
but that is the least of our worries.
Being a mom and dad of a young boy with special
needs comes with many challenges. Ellen Stumbo,
referring to an essay “Notes from the deep end” by
Jennifer Blougouras (also a special needs mom),
writes that “becoming a special needs parent feels
like being pushed into the deep end of a pool,
and you don’t know how to swim. … So you kick
frantically, gasp for air, and fling your arms hoping
to find something – or someone – to hold on to.
Suddenly, because your survival depends on it, you
figure out how to float”.
No-one ever plans to be a special needs parent. In
our case, there is absolutely no reason why Lian
should have muscular dystrophy. It was not passed
on through hereditary family genes – for some
obscure reason it just happened. On more than one
occasion we’ve asked ourselves the question how
something like this just happens? Why our little
boy? And what makes it worse are the seemingly
“helpful” words from individuals who do not
understand how to handle the topic. As a
special needs parent, you frequently hear people
saying things like “I don’t know how you do it – you
are so strong” or “Special kids are only given to
special parents”. The constant response to these
statements is the assurance that you are not any
stronger or more capable than anyone else and that
you definitely didn’t receive any special abilities or
skills to raise your child.
An important choice we made after Lian’s diagnosis
was to never sit back and see our son suffer from
an incurable disease. It doesn’t matter how unfair
we feel it is, it must serve a purpose. Even though
we are in this crazy battle of unknowns, Lian’s
diagnosis opened doors for us to reach out to other
parents. We were given a chance to remind people
of the Hope we have in Jesus. We would never have
been able handle Lian’s diagnosis without the Grace
of God, and that Grace is the one thing we cling
to while fighting muscular dystrophy. That Grace
is the most important thing we want to share with
other parents who face the same heartache and
challenges we do.
Yes, life is hectic being a special needs parent.
Weekly therapy sessions and doctors’ appointments
do take their toll and increase stress levels. Those
dreadful appointments that confirm your child’s
health is regressing. Those times you look at
photos or videos and realise that your child is
not able to do whatever he was able to do just a
few months ago. Juggling activities. Marriage.
Unaffected siblings. Work and other responsibilities.
It may seem overwhelming at times, but you learn
to manage and stay afloat. And, even though you
feel as if all these things are engulfing you, the
rewards of raising a special needs child are simply
Is there any joy in raising a child with special
needs? ABSOLUTELY YES! We never thought that
a small boy of only three years old could teach us
so much about life and inspire others. Raising Lian
opened our eyes to a world we never would have
experienced otherwise. It teaches you more about
patience, unconditional love, hope and grace. You
get a different perspective on what matters in life.
You suddenly realize that time is a precious gift and
you never know when things might change. You
recognize the significance of the small things in
life. You live in the moment. You find joy in that
“wheelchair chase” around the house or in the
excitement of reaching another milestone – not to
mention the witty comments only special needs
parents would understand.
To all the other parents out there, no matter what
age: Yes, raising and caring for a child with special
needs is hard, exhausting, and at times lonely. But
it’s beautiful. It’s worth it. It’s parenting.
Cure CMD. (©2018). “LMNA related disorders”.
Stumbo, E. (No date). “I never thought I would become
a parent of a child with a disability”. https://
By Emile Smith
If you’d asked me in the beginning what muscular
dystrophy was, I wouldn't have known, but the
longer the journey got the more I understood.
I'm Emile Smith, 26 years old, living in Worcester,
and I have Becker muscular dystrophy. Symptoms
of MD started when I was about 11 years old. I was
often laughed at for not being able to run or walk
long distances and my belly standing out. Nobody
knew what was happening, and it was difficult
because many thought I was acting up. One
morning on my way to school I fell and couldn't feel
my legs and thought I was paralysed, although it
lasted only for about 10 minutes. It never happened
again, thank God. High school was just difficult. I
decided to go to a mainstream school and believed
I could do what any person can do. It was hell at
first – for example, I had to find ways to climb into
a bus, such as some sort of crawling, with mud
smearing my clothes. Finding a way to get up the
stairs was slow but I just had to prove myself and
others wrong. I was laughed at a lot, for the way
I climbed into the bus and the way I climbed the
stairs, but I dealt with the mocking and bullying head
on and it all made me grow a thick skin. But it took
me on a journey of self-discovery and accepting
the situation and realising that I needed to accept
myself more than others should.
I passed matric despite everything I faced and was
honoured with a Principal’s Award for excelling
against all odds. I've learned to focus on what I can
still do, and I don't let the things I can't do mess me
up. Yes, for some time I was angry, frustrated and
felt like a let-down because I couldn't do what others
could, but I dealt with the beautiful reality that we all
are different and unique. I went through a process
of self-approval and finding love of my body despite
its changing form. It's MY tiptoe, MY belly and MY
When I was able I did everything possible, like
gardening, cooking, baking, ironing and even
mountain climbing. When I couldn't anymore I was
at ease about it and just used my ability whenever
MD isn't all that bad and is where I learn my life
lessons. If you ask me now what MD is I would say
it’s my brain and muscles fighting against each
other, and the reality is that both of them get a
chance to win. When I fall, I laugh and expect the
same reaction from others! Yes! Why… because I'll
get up, dust myself off and keep smiling. My brain
is my deepest gift from God because I'll always
find a way to manage when I'm supposed to really
I've found a passion for writing and call myself
Ink Dripper. It helps me to deal with MD and to
understand my struggle, my fears and tears.
Sometimes I wish it was all different but then I look
at my strength and think, yes, I'm struggling but am
inspired by my own life.
I'm currently experiencing weakening of my body
and muscles. I use my “maroon ride” for special
occasions. I walk slowly and my legs often hurt. I fall
and it’s painful, but when I put some tunes on and
laugh and think “Oh come on!” Life can test me but
I'll pass through fire. I've learned that being positive
in a negative situation is a win.
I've always wanted to be a social worker and a voice
and activist for disabled children and adults – one
day. Though I haven't achieved all of my dreams
yet, I'm happy because I've accepted myself and
have found ways to get by.
Muscular dystrophy has taught me an important
lesson: When I fall, I sit there, laugh, look around,
dust myself off, keep going and keep smiling.
I'm a warrior, a "woelige ou", a fruitful tree and a
force to be reckoned with. I'm physically challenged
but I'm no outcast. I'm Emile and I have muscular
South African participation in International Centre for Genomic
Medicine in Neuromuscular Disease (ICGNMD) –
a call for collaboration with MDSA
By Francois H van der Westhuizen, PhD
Professor of Biochemistry
Deputy Director: School of Physical and Chemical Sciences North-West University
Neuromuscular diseases (NMDs) affect approximately
20 million children and adults globally. They cause either
premature death or are chronic diseases causing lifelong
disability with economic impact. They include many
different disorders affecting muscle and nerve function and
account for 20% of all neurological diseases. Examples
include muscular dystrophies, motor neuron diseases, and
mitochondrial diseases. Most NMDs are genetic single gene
disorders, with many genes being discovered. In developed
countries, a precise genetic diagnosis and gene discoveries
are already having an important impact on patient care and
health outcomes. Unfortunately in developing countries,
such as SA, this is not the case and the great strides in
research that are required to develop such genetic diagnoses
in our country have not been forthcoming in recent decades.
The newly established International Centre for Genomic
Medicine in Neuromuscular Disease (ICGNMD) - partly
funded by the MRC (UK) for five years from July 2019 -
has the mission to harness genomics to understand disease
mechanisms and improve the health outcomes of children
and adults with serious NMDs on a global scale. It is led
by the University College London & Cambridge University
and include partners from five developing countries: South
Africa, Brazil, India, Zambia and Turkey. The main
objectives are to build NMD cohorts in these countries,
identify the genes involved in the disease in each population,
and build human capacities in each country and international
networks that are sustainable. Reaching these objectives will
greatly help to address the treatment of the various NMDs.
For SAs participation, experienced researchers and
clinicians at the following universities have formed a core
• Prof Francois H van der Westhuizen (coordinator and
NMD researcher), Centre for Human Metabolomics,
North-West University (NWU), Potchefstroom
• Prof Izelle Smuts (paediatric neurologist). Department of
Paediatrics, University of Pretoria (UP).
• Prof Jo Wilmshurst (paediatric neurologist). School of
Child and Adolescent Health, Red Cross War Memorial
Children’s Hospital, University of Cape Town (UCT).
• Dr Franclo Henning (neurologist). Division of Neurology,
Stellenbosch University (SU).
• Prof Jeannine Heckmann (neurologist). Division of Neurology,
Groote Schuur Hospital, UCT.
• Prof Soraya Bardien (geneticist), Division of Molecular
Biology and Human Genetics, Stellenbosch University.
The success of this ambitious study for SA will greatly
depend on the extent in which patients can recruited and
how well the complex, population-specific clinical and
genomic data can be scrutinized. It will also depend on
collaborations with all stake holders in SA. The centres already
participating have NMD clinics a base of patients that are
visiting these clinics, as well as established collaborations
(e.g. contact with local MDSA branches) and networks.
We would like to expand the knowledge of this study so
that broader access of patients with a NMD and other
collaborations with these clinics can be established over the
next 5 years.
Through Dr Marnie Potgieter (UP), we came into contact
with MDSA to inform members of this ICGNMD study and
participate at either of the centres in the near future.
MRI-GUIDED BIOPSY SHOWS PROMISE FOR CLINICAL
By June Kinoshita
Originally published in FSHD Advocate 2019, Issue 1, p.7
A central tenet of modern FSH muscular dystrophy research
is that the muscle damage in this disease is caused by a gene
called DUX4. Normally silent in adult skeletal muscle,
DUX4 is expressed through a genetic aberration and triggers
a shower of toxic molecular events. This idea lies behind
efforts to treat FSHD with drugs and gene therapies designed
to repress DUX4.
But proving that DUX4 causes damage in actual patients
has been no easy task. In a major step forward, researchers
from the University of Washington and the University of
Rochester reported that pathologic changes in patients’
muscles are correlated with patterns of genes that are
switched on when DUX4 is expressed.
The transcontinental team accomplished this discovery
by collecting tiny bits of patients’ muscles guided by
magnetic resonance imaging (MRI). Prior studies had
suggested that MRI can detect various stages of the disease
process. “Dystrophic” muscles were filled with fat and scar
tissue, which showed up as bright spots when the MRI was
tuned to detect fat. On the other hand, some healthy-looking
muscles looked abnormal when the MRI was tuned to detect
water. Researchers had suspected that the excess water in
these muscles resulted from inflammation.
These prior MRI studies hinted that inflamed muscles might
have DUX4 activity leading to dystrophy. Data from the
new study are consistent with this idea and point the way to
designing clinical trials. MRI-guided muscle biopsy could,
in theory, show that a drug is actually repressing DUX4
in patients, while a sequence of MRI images taken after
treatment might reveal whether the drug is slowing the
damage to muscles.
The researchers would like to study the same group of
patients over time to gain a fuller understanding of how the
Most importantly, scientists need to show this method is
reliable over repeated use in diverse groups of patients
before the approach can be considered ready to use in a
clinical trial. Those studies are now going on, with results
expected in about a year.
Wang LH, Friedman SD, Shaw D, Snider L, Wong
CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM,
Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ,
Tawil RN. MRI-informed muscle biopsies correlate MRI with
pathology and DUX4 target gene expression in FSHD. Hum
Mol Genet. 2019 Feb1;28(3):476-486.
Article available at: https://www.fshsociety.org/wp-content/uploads/2019/04/FSHD-Advocate-Magazine-2019-Issue-1-FINAL.pdf
SERUM CREATININE LEVELS REFLECT DISEASE
MUSCULAR DYSTROPHY PATIENTS
By Patricia Silva
Originally published by Muscular Dystrophy News, 14 April 2015
Researchers at Sun Yat-sen University, China recently published
in the journal Disease Markers a new method to help
assess muscular dystrophy disease severity and progression.
The study is entitled “Serum Creatinine Level: A Supplemental
Index to Distinguish Duchenne Muscular Dystrophy
from Becker Muscular Dystrophy.”
Muscular dystrophies are characterized by a progressive
skeletal muscle weakness that leads to the degeneration of
muscle cells and tissues, compromising locomotion. It can
also affect specific muscles involved in respiratory function,
leading to breathing complications and cardiac problems.
Duchenne muscular dystrophy (DMD) and Becker muscular
dystrophy (BMD) are two muscular dystrophies caused
by mutations in the dystrophin gene. DMD has a rapid progression
and a phenotype more severe than BMD, where the
majority of the patients require a wheelchair by the age of
12 and often succumb to the disease in their 20s. BMD has
a milder phenotype with near-normal life expectancy. Both
disorders affect mainly boys.
Several therapeutic strategies aiming at restoring dystrophin
production are currently undergoing clinical testing,
although reliable and convenient measures to assess disease
severity and progression are urgently needed. Many of the
tools available such as immunohistochemistry or quantitative
muscle strength tests are not considered feasible or adequate
for monitoring the patient’s response to therapy due
to the invasiveness of the procedure (in the case of muscle
biopsy), or due to their subjectivity and difficulty to conduct
in young children.
Creatinine is an end product generated during muscle metabolism
and its excretion has been reported to progressively
decrease in parallel with muscle wasting in DMS patients,
suggesting that a 24-hour urinary creatinine excretion test
could be a reliable indicator of muscle mass. Since serum
creatinine levels strongly correlate with urinary creatinine
excretion levels and DMS patients usually have lower creatinine
serum levels in comparison with BMD patients, the research
team hypothesized that serum creatinine levels could
represent a useful marker to determine disease severity.
Researchers analyzed a cohort of 212 Chinese boys with
muscular dystrophies in terms of clinical, biochemical, genetic
and motor parameters to evaluate whether serum creatinine
levels could reflect disease severity. The research team
found that serum creatinine levels had a moderate to strong
inverse correlation with lower extremity motor function,
suggesting that patients with lower creatinine levels may
have a more severe disorder with greater impairment of the
motor function. It was also found that creatinine levels were
significantly higher in BMD patients in comparison to DMD
patients, indicating that a higher serum creatinine level is
linked to a milder disease.
The researchers concluded that serum creatinine levels reflect
disease severity and could potentially be used as a simple
biomarker to clinically discriminate between DMD and
BMD patients and help assess disease progression.
Article available at: https://musculardystrophynews.
TALE OF TWO CHAIRS
By Hilton Purvis
My two trusty steeds each celebrated milestones last year.
My manual wheelchair celebrated 30 years of being my
legs, and my motorised wheelchair celebrated 20 years of
powering my mobility.
In 1987, while participating in the national championships
for disabled sport, I encountered a group of German athletes
who were working for a wheelchair manufacturer named
"Sopur". As we talked one evening, after a day's competition,
they commented that my wheelchair of the time was far too
large for my body frame. My muscular dystrophy has left me
particularly thin, and my hips measure a mere 29cm across.
The Germans felt I should have been maximising the benefits
that this offered since the narrower a wheelchair can be built
the greater will be its manoeuvrability and access into tight
spaces. The solution was to have "Sopur" build a wheelchair
suited to my body frame and in the following weeks we put
the plan into action. Their brochure sported a canary yellow
frame wheelchair on the cover with dove grey upholstery. It
looked very bright, modern and funky. Remember, we were
still in the era of chrome steel Everest & Jennings monsters!
I looked at the chair and thought that on some days it would
make a brilliant ride, but for others it just would not work.
Fortunately I settled for a more subdued light grey frame and
black upholstery, with red rims and hubs. Conservative, but
easier to live with in the long run. A couple of months later
my new wheelchair arrived in South Africa with a seat width
of just 30 cm and the backrest, armrests, etc all tailored to
my size. It was a genuine custom wheelchair, not a common
commodity in those days.
That chair has been my constant companion for more than
30 years. It has gone through a couple of sets of tyres,
numerous cushions and two sets of brakes, but it has covered
many kilometres, many hundreds of thousands of kilometres.
It has travelled on aircraft, ships, ferries, trains, trams, buses,
taxis and dozens and dozens of motor cars. It remains the
narrowest adult wheelchair I have ever encountered, and true
to their reasoning it has allowed me to reach places which no
other wheelchair as ever been before.
wheelchair really shone was in the corporate office
environment, allowing me to easily and quickly
navigate a six-storey business complex. It allowed me to move
effortlessly from my office to meeting rooms, presentations,
IT bunkers, and back in the same time it took my able-bodied
colleagues to do the same. In this regard alone it was a huge
empowerment tool and paid for itself many, many times over.
I ordered it directly from Invacare, which I don't think is
possible anymore with dealer networks now filling the
gap between the end users and the manufacturers. I recall
meeting with a senior regional executive of the
company, who flew out from the United States to meet with an
occupational therapist arranging equipment for a recently
disabled insurance claimant. He was more interested in
securing a date with the occupational therapist so all of my
requests for add-ons and optional extras were readily agreed
to and I was shuffled off! I hope his date delivered! The
motorised chair arrived on a wooden pallet, having travelled
halfway around the world, but it was in perfect working
order, and they even supplied me with a programmable
controller so that I could fine tune the speeds and
responsiveness of the joystick. That would be almost
impossible to do today and most dealers or suppliers would
not know a joystick from a lipstick.
What is remarkable is the fact that it is still running on
its original set of Group 24 batteries! I attribute this
longevity to an uncompromising attitude to battery
recharging where I do not "top up". I only ever charge the
battery at a time when it is able to recharge fully and never
have the recharging cycle cut short. These days of course I
have to deal with Eskom trying to return us to the Dark Ages
and interrupting charging cycles whilst doing so, but I do
whatever I can to avoid interrupting a charging cycle.
These two wheelchairs, so different in character and design,
represent everything that is access to me. Never mind ramps,
grab rails or roll-in showers, the wheelchair is where access
starts. Without either of them I would not be who I am today.
My motorised wheelchair, the impressive sounding Invacare
"Action Arrow", has led a far simpler life despite its rather
dramatic name. No international travel or exotic destinations
for this 120kg beast, but it has taken me up to the highest
walkways of Kirstenbosch Botanical Gardens, through the
wine estate of Vergelegen, the Boulder Penguin colony and
the Victoria and Alfred Waterfront complex more times than
I can remember. It goes without saying that in the last 20
years it has cruised more than its fair share of shopping malls.
But this is just one side of the story. Where my motorised
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 email@example.com.
What is genetic testing?
Genetic testing is a type of medical test that identifies the changes in our genes that cause disease. It is usually performed by studying
DNA – the genetic code that provides the instruction manual to our body.
Why should I have genetic testing?
The results of a genetic test can confirm a suspected genetic condition (diagnostic testing). Once a genetic diagnosis is confirmed, more
specific management and therapy may be provided. Increasingly therapies are becoming available, which require the exact genetic diagnosis
to be defined. Patients with different genetic faults may qualify for different therapies.
Many patients and their families ask about the possibility of other family members developing similar symptoms to those of the individual
with muscular dystrophy. Accurate information can be provided only once the genetic diagnosis is determined, as conditions which look
similar clinically may have different inheritance patterns and thus different risks.
Some tests may be able to predict whether an individual is likely to manifest a condition that is present in their family (predictive or
preclinical testing). They may also be used to determine if an individual is a silent carrier of a condition and whether they are at risk of
having an affected child.
What genetic tests are available for people with facioscapulohumeral muscular dystrophy (FSHD) and limbgirdle
muscular dystrophy (LGMD)?
FSHD and LGMD are two of the muscular dystrophies featured in this issue of the MDF Magazine. They have some overlapping clinical
features but illustrate some important principles in genetic testing.
FSHD is caused by a complex genetic alteration. The testing requires a laboratory with specific expertise in FSHD to do the analysis.
FSHD testing is usually done as a single test for this condition. A positive test confirms the diagnosis, and a negative result makes it very
unlikely that the condition is FSHD.
LGMD is a large, complex group of conditions with variable but overlapping clinical features. There are over 30 genetic subtypes, each
of which may be caused by faults in different genes. Thus, in 2019, if a diagnosis of LGMD is suspected, the most appropriate genetic test
would be the so-called gene-panel test, where many genes are analysed simultaneously in order to find the single disease causing a fault
in an individual. Such analysis has not always been available but is increasingly available now with newer genetic testing techniques.
Such tests may miss specific conditions like FSHD.
It is important to emphasise that genetic testing is complex and expensive. It should be individualised and performed through a medical
geneticist or genetic counsellor, who can help to select the test most appropriate for the patient and is most likely to provide the required
information. Such health professionals would be able to explain the value and limitations of genetic testing for any individual.
Sandra’s thoughts on…
By Sandra Bredell (MSW)
The human hand is one of the most complicated parts
of the body. Consider the following facts (Eaton, no
date): The hand consists of more or less 29 bones,
123 ligaments, 34 muscles which give movement to the
fingers and thumb (17 in the palm of the hand and 18
in the forearm), 48 nerves (3 major nerves, 24 named
sensory branches and 21 named muscular branches)
and 30 named arteries. The thumb alone has 9
individual muscles controlled by 3 major hand nerves
and its movement is quite complex. On top of this,
the finger strength is often underestimated if you bear
in mind that rock climbers often support their entire
weight by a few fingertips. One does not realize these
astonishing facts about our hands when we use them.
Furthermore, fingers are not perfectly straight either.
Only the finger bones on the back side of the hand is
straight but curved on the palm side. The skin on the
palm side of the hand and fingers has no hair and no
ability to tan yet it is tough, durable and very sensitive.
The article “How do hands work?” (2010) tells us that
we can use our hands in a power grip, precision grip
and to touch. The power grip can be described as
the grip we use to carry a heavy bag or hold onto a
handle, and the precision grip refers to the grip we use
to write and draw. But just as important as these two
different grips is the ability to use them to touch. There are
approximately 17 000 touch receptors and nerve
endings in the palm of the hand. It is then no surprise
to me that we associate touch with the hand. Fingertips
are especially sensitive to touch.
A hand is also linked to giving and support and is used
to shake hands in friendship and closing a deal in
the business world. Different symbolic meanings are
associated with the hand.
Apparently the fingers on one hand are flexed up
to 27 million times in a lifetime. Our hands are used
to communicate and receive information from the
environment. This made me think of a story that I
read a while ago, “The importance of hands” (author
unknown), which I would like to share with you.
An old man, probably some ninety plus years, sat
feebly on the park bench. He didn’t move, just sat
with his head down staring at his hands.
When I sat down beside him he didn’t acknowledge
my presence and the longer I sat I wondered if he
was okay. Finally, not really wanting to disturb him,
but wanting to check on him at the same time, I asked
him if he was okay.
He raised his head and looked at me and smiled. Yes,
I’m fine, thank you for asking, he said in a clear strong
I didn’t mean to disturb you, sir, but you were just sitting
here staring at your hands and I wanted to make
sure you were ok, I explained to him.
Have you ever looked at your hands he asked? I
mean really looked at your hands.
I slowly opened my hands and stared down at them.
I turned them over, palms up and then palms down.
No, I guess I had never really looked at my hands as
I tried to figure out the point he was making.
Then he smiled and related this story:
Stop and think for a moment about the hands you
have, how they have served you well throughout your
years. These hands, though wrinkled, shriveled and
weak, have been the tools I have used all my life to
reach out and embrace life. They braced and caught
my fall when as a toddler I crashed upon the floor.
They put food in my mouth and clothes on my back.
As a child my mother taught me to fold them in prayer.
They tied my shoes and pulled on my boots. They
dried the tears of my children and caressed the love
of my life.
They held my rifle and wiped my tears when I went off
to war. They have been dirty, scraped and raw, swollen
and bent. They were uneasy and clumsy when I tried
to hold my newborn son. Decorated with my wedding
band they showed the world that I was married and
loved someone special. They wrote the letters home
and trembled and shook when I buried my parents and
spouse and walked my daughter down the aisle.
Yet, they were strong and sure when I dug my buddy
out of a foxhole and lifted a plow off of my best friends’
foot. They have held children, consoled neighbours,
and shook in fists of anger when I didn’t understand.
They have covered my face, combed my hair, and
washed and cleansed the rest of my body. They have
been sticky and wet, bent and broken, dried and raw.
And to this day when not much of anything else of me
works real well these hands hold me up, lay me down,
and again continue to fold in prayer. These hands are
the mark of where I’ve been and the ruggedness of my
Why all this about the human hands? Well, when last
did you actually look at your hands? I mean really look
at your hands? Even though they might not look the
way you want them to look or work as you would want
them to work, they are part of your story. Your hands
are unique and have a special function in your life. Care
for them this winter!
Eaton, C. (No date). “Hand facts and trivia”. http://www.
“How do hands work?” (2010). https://www.ncbi.nlm.
“The importance of your hands”. (No date). Inspirational
many people sat along life’s wayside
way-worn, weary and blue
but something could cause them to take heart
just a word of encouragement.
Encouragement gives you strength
Courage to go on with life
But steep and abrupt is the way
Without it you will give up.
Encouragement gives you hope
Hope that bring the goal line nearer
Hope that can carry you when you’re tired
‘cause hopelessness will drain your strength.
With encouragement you can endure more
With it your hardships won’t feel heavy
And light-footed you’ll go forward
To finish the race of life.
Written by C. Dippenaar
ON THE SPOT, SCOTT…
TAKING MY BLINKERS OFF
By Robert Scott
Looking back to before I started working at the MDF,
disability could not have been further from my mind. What
I mean by this is that I knew nobody who had a disability
of any form so it was something that never factored in my
life. Now I was not one of those people who would park in a
disability parking so I had a certain level of social
responsibility, but that is where it ended with me.
For the better part of my life the word “disability” always
conjured up images of someone with a different way of
walking or with a missing limb, for example. Muscular
dystrophy may as well have been ancient Greek to me, not
a foggy clue I had! Then came along a small unassuming
building in Florida Park – you guessed it, it was the Muscular
I had a job interview coming up with the Foundation
and realized that I needed to educate myself as to what
muscular dystrophy was. I went through the process of
searching online and, like many, I did nothing but confuse
myself to a dizzy height! Once I started trying to read up
about the genetics side of things it was all downhill from
there. If anything I was more confused than before I started!
After a few hours I had managed to figure out the basics of
what MD is and was simply hoping that someone would not
ask me on my first day on the job to explain the over 70
different types of MD.
Then came a breath of fresh air – the people I would be
working with were affected themselves. At first I admit I was
uptight in my interactions. I went through things in my head
like “what can I say and what can’t I say”? All of this was
because I was worried I might offend someone. This soon
went away when I realized that my way of thinking at that
time was silly, as my colleagues were “normal” people like
the rest of us, and if anything were more open about having a
disability than I could have imagined. Let me illustrate.
In an effort to gain more clarity I asked my colleagues if
there was anything in particular that they struggled with on a
daily basis. What followed was one of the most enlightening
conversations of my life, and at times we were all sharing
a good laugh. One of the group said that they had always
preferred to take baths instead of showers. However, on one
occasion they made the unfortunate mistake of putting bath
oil in the water. This ended up doing nothing but creating a
slip ’n slide and they ended up having a less than graceful
I realized that while having a disability is nothing to laugh
about, it all depends on how you look at it. You can be very
uptight and serious or you can accept it and learn to look
on the bright side. Just because something is serious doesn’t
mean you can’t have a laugh about it.
These people became my knowledge centre, and over time
we grew from working with one another to becoming friends.
They taught me that having a disability is not a
pleasant thing but you need to learn that you are not different
from other people. What I mean by this is that once you become
comfortable with yourself and learn not to take life so
seriously, you have already won half the battle.
This all occurred more than two years ago for me, and since
then I have experienced more than I could have imagined
and learnt so much more. Now this is not to say that all these
experiences were easy. I have seen many people pass away
and seen tragic situations that have broken my heart. But
they have all come with an important life lesson for me: no
matter what happens, you need to live your life as if every
day may be your last.
So if I can pass any message on to our readers it is that one
shouldn’t get too tied down with anything negative. Some
things will get you down and some days will feel impossible,
but do not let them define who you are! Do everything you
can every single day of your life. Live and laugh like you
never have before.
To end off I would like to quote from the 1996 film “Jack”:
Please, don't worry so much, because in the end none of us
have very long on this earth – life is fleeting. And if you're
ever distressed, cast your eyes to the summer sky when
the stars are strung across the velvety night, and when a
shooting star streaks through the blackness turning night
into day, make a wish and think of me. Make your life
Play is an important part of a child's early development. Playing helps young children's brains to
develop and their language and communication skills to mature.
COFFEE CAN DRUMS
Originally published on Kids Activities.com, 20 March 2015
Let kids create some music of their own with some simple Coffee Can Drums. This fun activity inspires
creativity not only in the creation of the instrument, but in the hours they’ll spend banging on the drums
All you need to create your own coffee can drums are some old
coffee cans, balloons, scissors, and some packing tape.
Cut the nozzle off the balloons and stretch them around the can.
We double layered the balloons for durability and cut the top
layer for a fun effect.
Tape them in place, and your kids are ready to make music!
Article available at: https://kidsactivitiesblog.com/5491/bigthoughts-creative-kids/
LIVING WELL WITH A
DISABILITY HOW TO
AND BUILD A
By Melinda Smith
Last updated: November 2018.
Adjusting to life with a disability can be a difficult transition.
We all tend to take our health for granted—until it’s gone.
Then, it’s all too easy to obsess over what we’ve lost. But
while you can’t go back in time to a healthier you or wish
away your limitations, you can change the way you think
about and cope with your disability. You are still in control
of your life! There are many ways you can improve your
independence, sense of empowerment, and outlook. No
matter your disability, it’s entirely possible to overcome the
challenges you face and enjoy a full—and fulfilling—life.
Is it possible to live well with a disability?
Most of us expect to live long, healthy lives. So when you’re
hit by a disabling injury or illness, it can trigger a range of
unsettling emotions and fears. You may wonder how you’ll
be able to work, find or keep a relationship, or even be happy
again. But while living with a disability isn’t easy, it doesn’t
have to be a tragedy. And you are not alone. Millions of people
have traveled this road before you and found ways to not
just survive, but thrive. You can too.
healthy, unlimited body, but likely the loss of at least some of
your plans for the future.
Don’t try to ignore or suppress your feelings. It’s only
human to want to avoid pain, but just like you won’t get over
an injury by ignoring it, you can’t work through grief without
allowing yourself to feel it and actively deal with it. Allow
yourself to fully experience your feelings without judgement.
You’re likely to go through a roller coaster of emotions—
from anger and sadness to disbelief. This is perfectly
normal. And like a roller coaster, the experience is
unpredictable and full of ups and downs. Just trust that with
time, the lows will become less intense and you will begin to
find your new normal.
1. Learn to accept your disability
It can be incredibly difficult to accept your disability.
Acceptance can feel like giving in—throwing in the towel
on life and your future. But refusing to accept the reality
of your limitations keeps you stuck. It prevents you from
moving forward, making the changes you need to make, and
finding new goals.
Give yourself time to mourn
Before you can accept your disability, you first need to
grieve. You’ve suffered a major loss. Not just the loss of your
You don’t have to put on a happy face. Learning to live
with a disability isn’t easy. Having bad days doesn’t mean
you’re not brave or strong. And pretending you’re okay when
you’re not doesn’t help anyone—least of all your family and
friends. Let the people you trust in on how you’re really
feeling. It will help both them and you.
Coming to terms with your new reality
It’s healthy to grieve the life you’ve lost, but it’s not
healthy to continue looking back and wishing for a return
to your pre-disability “normal.” As tough as it is,
it’s important to let go of the past and accept where you
• You can be happy, even in a “broken” body. It may
not seem like it now, but the truth is that you can
build a happy, meaningful life for yourself, even
if you’re never able to walk, hear, or see like you
used to. It may help to search out inspiring stories
of people with disabilities who are thriving and living
lives they love. You can learn from others who
have gone before you, and their successes can help
you stay motivated during tough times. Don’t dwell
on what you can no longer do. Spending lots of time
thinking about the things your disability has taken
from you is a surefire recipe for depression. Mourn
the losses, then move on. Focus on what you can do
and what you hope to do in the future. This gives
you something to look forward to.
• Learn as much as possible about your disability.
While obsessing over negative medical information
is counterproductive, it’s important to understand
what you’re facing. What’s your diagnosis? What is
the typical progression or common complications?
Knowing what’s going on with your body and what
to expect will help you prepare yourself and adjust
2. Find ways to minimize your disability’s impact on your
It goes without saying that your disability has already
changed your life in big ways. It doesn’t help to live in
denial about that. You’ve got limitations that make things
more difficult. But with commitment, creativity, and a
willingness to do things differently, you can reduce the
impact your disability has on your life.
Be your own advocate. You are your own best advocate
as you negotiate the challenges of life with a disability,
including at work and in the healthcare system. Knowledge
is power, so educate yourself about your rights and the
resources available to you. As you take charge, you’ll also
start to feel less helpless and more empowered.
Take advantage of the things you can do. While you may
not be able to change your disability, you can reduce its
impact on your daily life by seeking out and embracing
whatever adaptive technologies and tools are available. If
you need a device such as a prosthetic, a white cane, or a
wheelchair to make your life easier, then use it. Try to let go
of any embarrassment or fear of stigma. You are not defined
by the aids you use.
Set realistic goals—and be patient. A disability forces
you to learn new skills and strategies. You may also have to
relearn simple things you used to take for granted. It can
be a frustrating process, and it’s only natural to want to
rush things and get back to functioning as quickly as
possible. But it’s important to stay realistic. Setting overly
aggressive goals can actually lead to setbacks and
discouragement. Be patient with yourself. Every small step
forward counts. Eventually, you’ll get there.
3. Ask for (and accept) help and support
When struggling with a disability, it’s easy to feel completely
misunderstood and alone. You may be tempted to withdraw
from others and isolate yourself. But staying connected to
others will make a world of difference in your mood and
Tips for finding (and accepting) help and support
Nurture the important relationships in your
life. Now, more than ever, staying connected is
important. Spending time with family and friends will
help you stay positive, healthy, and hopeful. Sometimes,
you may need a shoulder to cry on or someone to vent
to. But don’t discount the importance of setting aside
your disability from time to time and simply having fun.
Joining a disability support group. One of the
best ways to combat loneliness and isolation is to
participate in a support group for people dealing with similar
challenges. You’ll quickly realize you’re not alone. Just
that realization goes a long way. You’ll also benefit from
the collective wisdom of the group. Support groups
are a great place to share struggles, solutions, and
Accepting help doesn’t make you weak. In fact, it
can make you stronger, especially if your refusal to
seek out needed assistance is delaying your progress or
making you worse, either physically or emotionally. Let
go of the fear that asking for support will inspire pity.
Allow the people who care about you to pitch in. Not
only will you benefit, it will also make them feel better!
Consider talking to a mental health professional.
Having someone to talk to about what you’re
going through can make a huge difference. While
loved ones can provide great support in this
way, you may also want to consider talking to a
therapist. The right therapist can help you process the
changes you’re facing, work through your grief, and
reframe your outlook in a more positive, realistic way.
4. Find things to do that give you meaning and purpose
A disability can take away many aspects of your identity,
leaving you questioning who you are, what your value
is, and where you fit in society. It’s easy to start feeling
useless and empty, especially if you can’t do the same work or
activities as you did before. That’s why it’s important to find
new things that make you feel good about yourself—things
that give you a renewed sense of meaning and purpose.
Volunteer. Volunteering is a great way to feel more
productive and like you’re making a difference. And it’s
something you can do even if you have limited mobility or
can’t work. Pick a cause you’re passionate about and then
figure out how you can get involved. There are numerous
opportunities out there—many of which can even be done
Develop new hobbies and activities that make you
happy. A disability can make the activities you used to
enjoy more difficult, or even impossible. But staying
engaged will make a big difference in your mental health.
Look for creative ways to participate differently in old
favorites, or take this opportunity to develop new interests.
Find ways to give back to those who help you. When you’re
disabled, you often must accept a lot of help from friends and
family. This is not a bad thing! But it will make you feel good
if you find ways to reciprocate. For example, maybe you’re
great with computers and can help a tech-challenged family
member. Or maybe you’re a good listener your friends know
they can count on when they need someone to talk to. Even
things as small as a thank-you card or a genuine compliment
Take care of an animal. Caring for a pet is a great way
to get outside of yourself and give you a sense of being
needed. And while animals are no substitution for human
connection, they can bring joy and companionship into your
life and help you feel less isolated. If you aren’t able
to have a pet, there are other ways to find animal
companionship, including volunteering at your local animal
shelter or veterinarian’s office.
5. Make your health a top priority
In order to feel your best, it’s important to support and
strengthen your health with regular exercise, a healthy diet,
plenty of sleep, and effective stress management.
It’s important to get exercise in any way that you can.
Not only is it good for your body—it’s essential for
mental health. Regular exercise helps reduce anxiety and
depression, relieve tension and stress, and improve sleep.
And as you get more physically fit, you’ll also feel more
confident and strong.
Start small and build from there. Don’t jump too quickly
into a strenuous routine. You’re more likely to get
injured or discouraged and discontinue. Instead, find ways
to increase the amount of physical activity in your day in
small, incremental steps.
Find creative ways to exercise. Instead of dwelling on
the activities you can’t do, focus on finding those that are
possible. Even if your mobility is limited, with a little
creativity, you can find ways to exercise in most cases.
Listen to your body. Exercise should never hurt or make
you feel lousy. Stop exercising immediately and call your
doctor if you feel dizzy, short of breath, develop chest pain
or pressure, break out in a cold sweat, or experience pain.
Don’t compare yourself to others (or to your past self).
Avoid the trap of comparing your exercise efforts to those
of others—even others with similar disabilities. And don’t
discourage yourself by comparing where you are today to
where you were pre-disability. The only healthy way to judge
your progress is by comparing where you are today to where
you were yesterday.
Eat well to optimize energy and vitality
Nutritious eating is important for everyone—and even
more so when you’re battling physical limitations or health
complications. Eating well will boost your energy and
promote vitality so you can partake in the activities you want
to and reach your goals. While eating healthy isn’t always
easy when you’re struggling with a disability, even small
changes can make a positive impact on your health.
Focus on how you feel after eating. You’ll start to notice
that when you eat healthy, balanced meals, you feel more
energetic and satisfied afterward. In contrast, when you opt
for junk food or unhealthy options, you don’t feel as good.
This awareness will help foster healthy new habits and tastes.
Get plenty of high-quality protein. Protein is essential
to healing and immune system functioning. Focus on
quality sources such as organic, grass-fed meat and dairy,
fish, beans, nuts and seeds, tofu, and soy products.
Minimize sugar and refined carbs. You may crave
sugary snacks, baked goods, or comfort foods such as pasta
or French fries, but these “feel-good” foods quickly lead to
a crash in mood and energy. Aim to cut out as much of these
foods as possible.
Drink plenty of water. Your body performs best when it’s
properly hydrated, yet many people don’t get the fluids they
need. When you’re dehydrated, you simply don’t feel as
good. Water also helps flush our systems of waste products
Don’t underestimate the power of sleep
Quality sleep is important for flushing out toxins and protecting
your brain. Most adults need 7 to 9 hours. Establish a
regular sleep schedule; create relaxing bedtime rituals such
as taking a bath or doing some light stretches, and turn off all
screens at least one hour before sleep.
6. Make stress management a priority
Stress is hard on the body and can make many symptoms
worse, so it’s important to find ways to manage your stress,
such as practicing relaxation techniques, carving out a healthy
work-life balance, and learning healthier coping strategies.
Article available at: https://www.helpguide.org/articles/
5 TIPS FOR EMOTIONALLY COPING
By Wendy Henderson
Originally published by Muscular Dystrophy News, 16 February 2017
As boys with Duchenne muscular dystrophy get older,
their disease progresses and it’s likely that their emotional
response to the disease will change over time. It’s perfectly
natural for Duchenne MD patients to experience frustration,
anger, self-pity and anxiety regarding their condition, but
there are ways that you can help them cope with their emotions.
We’ve put together a list of tips for helping Duchenne
MD patients cope better emotionally with the disease and
feel happier about themselves with information from Parent
Encourage Open Communication
Be open and honest about Duchenne and let your child know
that they can speak to you about any concerns or worries they
have at any time. If he’d rather speak to a doctor or counsellor,
then let him know that you can arrange that for him.
Allow free-flowing conversation about his emotions and let
him express his thoughts in a healthy and constructive way.
There may be certain issues that your son is experiencing that
are adding to his emotional stress such as bullying, learning
problems or teenage hormones. If the problem is something
that can be sorted, put plans in place to rectify the situation.
Keep up with Your Child’s Changing Needs at School
As your child’s Duchenne progresses, the school may need to
change its classroom set-up to become more accommodating
and to ensure he is not accidentally being excluded from activities.
Your son’s needs will continue to change as he ages,
so you need to be one step ahead to ensure there are as few
problems as possible.
Encourage your child to be as independent as possible. The
more they can do for themselves, the better their sense of
self-worth will be. Encourage them to socialize with friends
and to take part in activities without you.
Encourage Decision Making
As your son gets older, he should take on more responsibility
in the decisions regarding his healthcare, education, and
social life. Be there to guide, but acknowledge that he can
make some age-appropriate decisions on his own.
Article available at: https://musculardystrophynews.
Meet the Branch Committee
I am Anne-Marie Stoman, member of the MDF
Cape Town branch since 2010. I serve on the
committee and attend and help where I can. I
have two daughters Chrismarie and Madeleine.
They support me whenever needed and I love
them to bits. I was a WO in the SANDF, stationed
in Youngsfield Military Base at the Signal Unit but
worked at the Castle and Parliament.
I participated in many different sport activities
which kept me fit and only started walking wiith
a walker in 2006. I was diagnosed with FSHD in
1991, but never took notice of it untill it started
affecting my sport activities in hockey, squash, karate,
modern dancing and gym up till 2014.
I am now in a retirement village Panorama Palms and I am incredibly happy. I help residents with any technology
aspects as far as I can and call on assist with calling an uber when needed. My hobby is quilting. Although
its difficult working with a needle, I have completed four big quilts and few small ones of which I am very proud.
I am in a relationship with a dear friend whom I’ve known for approximately 30 years. May the Lord grant us many
years of happiness as he brought us together.
May our Cape Town branch be blessed with many more years as it feels like family when visiting there.
Keep up the good work everyone
With lots of love and appreciation
My name is Sanjay Narshi, I was diagnosed at Groote Schuur Hospital with Muscular Dystrophy in 1993. My
hobbies are shoe & bag repairs, I also enjoy doing art drawings or paintings. I love attending the MDF support
groups each month. I try to live life to the fullest & take each day as it comes.
Fairbridge - Social Worker
I graduated at The University of The Western Cape in the
year 2017. I have previously worked in Child Protection
Services for just over a year.
I started my journey at Muscular Dystrophy Foundation on
18 June 2019 and I am looking forward to growing at the
Our social auxiliary workers,
Mariam Landers and Zukiswa
Peza, raised awareness at
various schools, libraries, clinics
and hospitals such as Bel Porto
School, Astra School, Brooklyn
and Athlone libraries, Parow
Clinic, Heideveld Clinic and
Groote Schuur Hospital. Many
thanks to the communities,
clinics and hospital for the
INTAKA OUTING WITH DUCHENNE BOYS
In the second quarter of the year, on 15 May 2019, we took the Duchenne boys on an exciting excursion to Intaka
Island/Bird Island. The lesson covered general characteristics of different birds. At the end of the lesson the boys had
to identify the birds that they had seen by indicating this on a sheet. They were also educated on different indigenous
plants in Africa. The children had an enjoyable time; although exhausting, it was a great outing and very educational.
Adult Support Group:
February marked the beginning of our 2019 adult
support group programme. We kicked things into gear with a
Valentine's Day social. Our members had the opportunity
to reconnect after the long festive break and to share their
thoughts and ideas for the 2019 programme. Thank you to
everyone who attended this meeting. If you couldn't make it,
don't fret! We host a meeting on the first Saturday of every
month, and you are always welcome to join us.
ADULT SUPPORT GROUP
In the last quarter we had a few great Adult Support Group meetings and would like to thank our members for
finding time to attend these meetings once a month.
On 2 March 2019 we decided to do something
different by taking our Adult Support Group to the Sea Point
Promenade for a walk and a cup of coffee. We had a fun
morning of socialising at the beach over a cup of coffee.
On 6 April 2019 we had a very successful and interactive
session on “Self care”. Our members enjoyed this
session very much and it was wonderful to share
personal experiences and learn from one another.
On 1 June 2019 we once again enjoyed a great morning
at the Stay Easy Hotel over a lovely cup of coffee. We would like to take this opportunity thank the Stay Easy Hotel
for their hospitality.
Our deepest condolences to little angel Luke De Villiers, who passed away in May
2019. May his family find comfort during this difficult time.
It is with very heavy heart that we say goodbye to one of our Eastern Cape
members, Lorraine Abbott, who passed away on 20 April 2019. Your family is in
It is with heavy hearts that we bid farewell to young
Sinoxolo Mtyhido, who passed away at the age 14 on 21 May 2019. His beautiful
smile and humbleness will be sadly missed by all, especially the Duchenne boys.
Our sincere condolences to the Mtyhido family.
We sadly had to say goodbye to a young girl, Ovayo Kotoki, who had such a bright
future ahead of her. She passed away on 12 April 2019 at the age of 15. Our
sincere condolences to the Kokoti family and friends.
Condolences to family and friends. Ed.
WELCOME RABIE MODISANE, GENERAL MANAGER
– GAUTENG BRANCH
This organization has gone through a difficult time since the passing on of
its General Manager, Pieter Joubert, at the beginning of this year. It is very
clear that Pieter was great leader and I’m thrilled to be taking over from
him. Robert Scott, our Business Development Specialist, did very well as
Acting General Manager until my appointment.
Our social workers also continued to do good work despite (in their
words) “losing a father figure who was always there for us”. Our branch’s
proximity to the National Office is a big plus. Our team of young social
workers greatly benefit from the enormous social work experience of Gerda
Brown, General Manager of the National Office.
I have been in the nonprofit sector for over two decades. Wherever I
worked, in youth organizations running developmental programmes
for young people, or as a senior manager of certain nonprofits, or as a
consultant for a community based organization – it’s mostly been about
serving people who are faced with serious struggles on a daily basis. I consider this a privilege and always do my
best to add value to their lives and in return learn and grow from all experiences.
The challenge ahead is a big one for all of us. The needs of those we serve grow day by day; on the other
hand, resources keep diminishing. We rely on a small pool of supporters who constantly get more requests –
sometimes for even more desperate situations. But, with a committed board, passionate social workers, professional
managers, and supporters and donors who have become our partners, we shall achieve our mission. I am happy
to be part of this family.
PRETORIA SCHOOL PICNIC
On Tuesday 21 May 2019 we had a picnic at Pretoria School's yard, with MD group learners, physiotherapists
and social workers. The aim was to encourage learners to do well in their mid-year examinations. We also
enjoyed different snacks on that event.
A GARDEN TO REMEMBER MDF’S PIETER
By Adele Bloem
Originally published in the Roodepoort Record, 21 June 2019
Friends, family and colleagues came together on a chilly Saturday morning to honour the memory of a man who
made a huge impact – not only on their lives, but on the community as well.
The Muscular Dystrophy Foundation (MDF) Gauteng decided to rename the house where their offices are situated,
as well as unveil a memorial garden, in honour of Pieter Joubert, the previous manager, who passed away
in January this year.
Robert Scott, the Acting Manager of MDF Gauteng, explained, “Pieter was affected by facioscapulohumeral
muscular dystrophy (FSHD), and, as a result of this, he was in a wheelchair for more than a decade. However,
this did not stop him from dedicating a large portion of his remarkable life to the MDF and the service of its
members for more than 20 years.”
He added that Pieter was truly a doyen in the world of non-profit organisations, which was very much because
of his love for the MDF and the members he served.
“For many of our members, the MDF was Pieter, and Pieter was the MDF. However, Pieter was a lot more than
this; he was a husband, father and friend to many people. Those who had the privilege of having him in their
lives will always remember him fondly,” Robert concluded.
Article available at: https://roodepoortrecord.co.za/2019/06/21/a-garden-to-remember-a-good-mana-garden-
SAVE THE DATE
Discovery 947 ride Joburg
The Discovery 947 ride Joburg on 17 November
2019 is fast approaching. We ask all of our past and
present Muscle Riders and all newcomers to join us
once again and help us make a difference!
FILADELFIA SCHOOL OUTING
On Saturday 8 June 2019 we took muscular dystrophy learners from Filadelfia Secondary School in
Soshanguve, Block L to a local mall, Soshanguve Crossing. Learners were treated to lunch at Spur and some
games at the venue.
We would like to thank Spur Soshanguve Crossing for
sponsoring us with lunch.
GOLF DAY WITH REDHILL SCHOOL
We would like to thank Redhill School for organizing a fantastic Golf Day that took place at the Royal Johannesburg
& Kensington Golf Club on 21 June. MDF Gauteng was one of the beneficiaries of the day and we could
not be more grateful for the generosity and support!