MDF Magazine Issue 63 December 2020. 8 December
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Summer Issue 63
December 2020
05 MDF notice board
06 National news
10 MD information
MD INFORMATION
10 How service dogs can benefit people with
neuromuscular diseases
12 Pain
20 Innovative assistive devices
22 Celiac disease associated with FSHMD
EVENTS
25 Mr & Ms MDFSA
People
28 A mother’s story: Raising my son with DMD
30 Living with BMD and playing sports
31 How Jillian Mercado beat the odds to become a model
32 Jordon Mossom gains degree with his autobiographical
picture portrayal of life with a disability
34 Michael, writer, poet, guest speaker
Regular Features
39 Doctor’s corner
40 The View from Down Here
42 On the spot, Scott
43 Kiddies corner
44 Sandra’s thoughts on … adjusting to the “new normal”
after COVID-19 lockdown
Healthy Living
46 Muscular dystrophy
Research
36 Breaking news in research
38 New DMD drug shows benefit in clinical trial
C O N T E N T S
Published by:
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
E-mail: national@mdsa.org.za
Website: www.mdsa.org.za
Publishing Team:
Managing Editor: Gerda Brown
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Cover photo of Babalwa Matya, Dianne de Graaf and
Mariam Landers.
Future Issues:
April 2020
(Deadline: 2 March 2021)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profi t organisation that supports
people affected by muscular dystrophy and
neuromuscular disorders and that endeavours to
improve the quality of life of its members.
From The
With the coronavirus pandemic surging all over the world, this holiday season
(like much else this year) could look very different from usual. Events have
been cancelled and gatherings postponed, and much of our socialisation has
been forced to take place online. Unusual times require unusual solutions.
Even if we can’t spend our usual time shopping for that perfect Christmas gift
or don’t get to go to that Christmas market, remember that one of the most
wonderful aspects of Christmas is spending time together. This we can do
while following the relevant public health guidelines.
In this issue of the MDF Magazine, the usual enlightening information about
muscular dystrophy and research being conducted is shared. There are
also inspiring stories of people affected by muscular dystrophy who refuse
to be defi ned by it. This has made me realise once again how important it
is to know that we are not alone. Talking with others in the same situation
helps us overcome our anger and sadness and leads us to accept what has
happened. This is by no means easy as we are unsure about what the future
will hold, but it is important that we move forward.
That being said, I wish you a magical and blissful holiday. Have a merry Christmas and a prosperous new year!
Thank you to everyone who has supported us this year. Without you the Foundation would not be able to provide
services to our very special members.
Regards
Gerda Brown
Muscular Dystrophy Foundation
We would like to wish you
a peaceful and relaxing
Festive Season and
a prosperous New Year.
4
Subscription and contributions to
the magazine
We publish three issues of MDF
Magazine a year and you can subscribe
online to the magazine or by calling
your nearest branch.
If you have any feedback on our
publications, please contact the
National Office by e-mail at
gmnational@mdsa.org.za or
call 011 472-9703.
Get all the latest news on the fight
against muscle-wasting conditions and
the latest research updates. It is our
editorial policy to report on
developments regarding the different
types of dystrophy but we do not
thereby endorse any of the drugs,
procedures or treatments discussed.
Please consult with your own physician
about any medical interventions.
If you are interested in sharing your
inspirational stories, please let us know
and we'll be in touch to discuss this
with you. The Foundation would love
to hear from affected members, friends,
family, doctors, researchers or anyone
interested in contributing to the
magazine. Articles may be edited for
space and clarity.
MDF SA database
If you know people affected by
muscular dystrophy or neuromuscular
disorders who are not members, please
ask them to contact us so that we can
register them on our database. If we do
not have your current e-mail and postal
address, please contact your branch so
that we can update your details on our
database.
How can you help?
Contact the National Office or your
nearest branch of the Muscular
Dystrophy Foundation of South
Africa to find out how you can help
with fundraising events for those
affected with muscular dystrophy.
Fundraising
Crossbow Marketing Consultants (Pty)
Ltd are doing invaluable work through
the selling of annual forward planners.
These products can be ordered from
Crossbow on 021 700-6500. For
enquiries contact the National Office by
e-mail at gmnational@mdsa.org.za or
call 011 472-9703.
MDF ::
MDF support information
For more information about the Muscular Dystrophy Foundation, the benefits of
being a member and details on how to become a member, call your nearest branch..
NATIONAL OFFICE
E-mail: gmnational@mdsa.org.za
Website: www.mdsa.org.za
Tel: 011 472-9703
Address: 12 Botes Street, Florida Park,
1709
Banking details: Nedbank, current
account no. 1958502049,
branch code 198765
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Cape)
E-mail: cape@mdsa.org.za
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
7460
Banking details: Nedbank, current
account no. 2011007631,
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
E-mail: gauteng@mdsa.org.za
Website: www.mdfgauteng.org
Website: www.muscleriders.co.za
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
1709
Banking details: Nedbank, current
account no. 1958323284,
branch code 192841
Pretoria Office
E-mail: swpta@mdsa.org.za
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
Pretoria
KZN BRANCH (KZN & part of
Eastern Cape)
E-mail: kzn@mdsa.org.za
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Durban, 4000
Banking details: Nedbank, current
account no. 1069431362, branch
code 198765
General MD Information
Cape Town
Lee Leith
Tel: 021 794-5737
E-mail: leeleith@mweb.co.za
Gauteng
Rabie Modisane
Tel: 011 472-9824
E-mail: rabie@mdsa.org.za
Duchenne MD
Cape
Win van der Berg (Support Group)
Tel: 021 557-1423
Gauteng
Jan Ferreira (Support Group –
Pretoria)
Cell: 084 702 5290
Estelle Fichardt
Tel: 012 667-6806
Christine Winslow
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Hettie Woehler
Cell: 079 885 2512
E-mail: hettie.woehler@gmail.com
Facioscapulohumeral (FSHD)
Francois Honiball
Tel: 012 664-3651
Barry Snow
Cell: 083 66 66 270
E-mail: barry.snow@worleyparsons.
com
Friedreich Ataxia (FA)
Linda Pryke
Cell no: 084 405 1169
Nemaline Myopathy
Adri Haxton
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Zeta Starograd
Tel: 011 640-1531
Lucie Swanepoel
Tel: 017 683-0287
Congenital Muscular Dystrophy
Hanti van Eyk
Tel: 082 792 2054
Doné van Eyk
Tel: 072 598 1163
General Support Group Gauteng
East Rand
Zigi Kerstholt
Cell: 082 499 9384
E-mail: z.kerstholt@gmail.com
5
National
Address by the National Chairperson of
the Executive Committee during the
Annual General Meeting
26 September 2020
Despite our successes, our country and indeed the globe continued to experience sluggish economic growth that was
exacerbated by the COVID 19 pandemic. 2020 has been a year unlike any year before and presented specific challenges
to the MDF. This has impacted negatively on our service delivery and fundraising efforts. The past few years have been
difficult and financially challenging for the Foundation.
We are grateful to all our donors, funders, and the individuals who, despite the challenging financial climate, continue
to generously support us. Your support assisted us in delivering the much-needed services required by our members and
their families. We thank you for your continued support.
We always must give acknowledgement and thanks to our biggest financial partner, Crossbow Marketing, for the
partnership over many years. We would not be able to be here today without this partnership, and we thank the
management and staff for their continual commitment and hard work in securing a constant income for the MDF.
I must commend our dedicated staff and management for pursuing the Foundation’s mandate. I thank you most
sincerely for your contribution to the success of the Foundation and the well-being of our incredibly special members.
We wish all the branches the best in their continued work to ensure that disabled people benefit from the rights that our
Constitution promises them.
The Executive Committee are to be complimented on their engagement during the year. A special word of gratitude to
the EXCO for their continued commitment to the betterment of the lives of people affected by muscular dystrophy. I look
forward to another year working together to achieve our common goal.
Adv. Maatjan Ferreira
6
Season’s Greetings from Vené
(MDFSA Ambassador)
Christmas finds us all one year older but young as ever in the
spirit of the Season.
This year wasn't necessarily the best year for everyone, but we
made the best of what we had. Days went by when we didn't
know what to do or what was coming with Covid-19 making its
entrance, but here we are, celebrating Christmas with family and
friends. Christmas is the time of giving and celebrating life, but
we must also remember to be thankful for what we have.
“Learn to give freely of all that you have. Learn also to receive
graciously all that is given to you, and use it wisely for the
expansion and betterment of the whole. When you give, give
freely and do not count the cost.” – Eileen Caddy (in Opening
doors within, Findhorn Press)
Let's end this year off by counting our blessings and thanking
those who have stood by our side.
Enjoy the holiday season. Merry Christmas
and Happy New Year.
Vené van Rooyen
MDFSA Ambassador
Best wishes
7
Go green for Muscular Dystrophy
Awareness Month!
September was 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 championed an online awareness programme called “Get into
the green scene” – green being the colour of the muscular dystrophy
ribbon. This campaign is our signature social media event to recognise
Muscular Dystrophy Awareness Month. The campaign is designed to
stand out on social media by combining the event’s official colour with
an eye-catching image.
Affected members and various corporates participated in the campaign
by posting their “green” photos on the MDFSA Facebook page. This
year we were joined by HealthMan, Iso Leso, Lemique and Wheelchairs
on the Run.
We even had a visit from Jerry the Giraffe! Thank you Anri Human for the beautiful puppet show.
A special thanks to all our members, the MDF branches and the abovementioned corporates for taking part in our
campaign.
8
FUNDRAISING
MDF merchandise
Please email your order and proof of payment to
gmnational@mdsa.org.za by 31 August 2020.
Masks are
available in
S-M & L-XL:
R60,00 each.
Embroidered
decals: R100,00
T-shirts are
available in
S-M & L-XL:
R130.00
Please note that the delivery
charge is for your cost.
Mug
R60,00 each.
Water bottle
(500 ml) R50.00
Bottle opener
R50.00
Notebook
water bottle
(380 ml) R100.00
MDFSA would also like to say a big thank you to Tamryn Oosthuizen for
designing the beautiful artwork for our fundraising campaigns free of charge.
MD
How Service Dogs Can Benefit People
with Neuromuscular Diseases
By Muscular Dystrophy News Today
15 May 2017
Service dogs are typically thought of as necessary companions for the visually impaired, but service and therapy dogs
can be incredibly helpful for those with neuromuscular disorders.
As well as being a trusted friend, service dogs can expand owners’ motor abilities, granting them new independence
and allowing them to get more out of life. Adults and children with neuromuscular diseases like spinal muscular
atrophy (SMA), muscular dystrophy (MD) and multiple sclerosis (MS) may find introducing a service dog to the
family improves their lives, allowing them to take a little pressure off their caregivers and giving them a best friend
for life.
Here are just a few benefits that having a service dog can bring to people who live with neuromuscular diseases
according to healthfitnessrevolution.com, mira.ca, the Lung Institute, and rover.com.
Wheelchair Assistance
Service dogs can be trained to pull wheelchairs and to help wheelchairs up ramps and onto sidewalks. They can also
help their owner move in and out of the wheelchair.
Anxiety Relief
Having a chronic illness can bring about many emotional and mental health problems. The calming nature of service
and therapy dogs can help ease anxiety and petting dogs is known to release endorphins and reduce stress.
Retrieve Items
Service dogs can help neuromuscular disease patients by picking up dropped items and fetching items from other
rooms, a vital service for someone who may find getting around difficult and painful.
Lowers Blood Pressure and Heart Rate
There is evidence that stroking a dog and sitting next to a dog lowers blood pressure and heart rate. The soothing
effects of their body heat may also help with pain relief.
Improved Balance
Walking with a service dog can help people with milder forms of neuromuscular disorders who have trouble with their
balance. The dogs can also help prop their owners in place to prevent falls.
Good Distraction
Looking after a service dog gives people something to focus on other than their illness. It can help patients develop
positive routines and force them to get up and go out.
10
MD
Exercise
Service dogs, like all dogs, need exercise, so having a service dog encourages owners to get some exercise each day.
Attract Attention
If you need help but are unable to draw attention yourself, your service dog will be able to bark loudly to attract attention
from passersby or neighbors.
Promote Communication
Dogs have been known to help promote communication and often prompt conversation from strangers when out and
about. They have also been used to help patients with speech disorders (source sciencedirect).
Help Around the House
Therapy dogs are able to help people around the house with simple tasks such as answering the doorbell, retrieving
medication, opening and closing doors, and switching lights on and off.
Article available at: https://musculardystrophynews.com/2017/05/15/service-dogs-can-benefit-people-neuromuscular-diseases/
11
PAIN
Duchenne affects every part of your body. Understanding pain can be tricky, but understanding pain in the context
of Duchenne can be especially tricky. This section hopes to help to defi ne, identify, assess, and help manage your
pain throughout the lifespan of Duchenne.
Many people try to ignore or deny pain. Pain is the body’s way of letting you know that something is wrong – it is
important to recognize and address pain when it occurs.
Managing Pain: Facts to Remember
1. Recognize that you are in pain.
2. Assess the pain using an age-appropriate scale.
3. Alert care providers that you are experiencing pain, providing them with all the information that you have gathered.
4. Manage the pain according to your care provider’s instructions.
5. Keep your care providers up to date, especially if the pain is changing in character or getting worse.
Understanding Pain and Duchenne
Many people living with Duchenne complain of pain. In a recent study of 55 patients ages 12-18 years old living
with Duchenne or spinal muscular atrophy (SMA), 55% complained of mild/moderate, persistent or chronic pain1.
Previous studies have reported that 54-80% of patients living with Duchenne suffer from mild to moderate aching
pain for more than several hours daily2. Chronic pain has been shown to impact quality of life, psychosocial
functioning, and activity3, increasing social isolation and affecting independence and identity4. Clearly, pain is an
under-recognized aspect of Duchenne and should be part of every medical evaluation.
Types of Pain
It is important to identify what type of pain you are experiencing. Pain that accompanies Duchenne can generally
be described in two ways:
Acute pain
This type of pain comes on suddenly usually as a result of disease, infl ammation, or injury. It is usually accompanied
by anxiety, fear, and/or emotional distress. Acute pain can go away suddenly or gradually, or it can become
chronic pain.
Chronic pain
Chronic pain persists over a longer period of time and is less able to be controlled by medical treatments; can be
12
By Parent Project Muscular
Dystrophy
MD
made much worse by environmental and psychological factors; and can impact activities of daily life and quality
of life.
Assessing Pain
Because pain is a subjective sensation and is perceived differently by everyone, it is necessary to develop methods
of assessing the different aspects of pain for yourself. You know yourself better than anyone else and this will
help you to recognize signs of pain or distress. If you are experiencing pain, it is important to assess that pain.
Some questions that you need to ask are:
• Is there pain?
• Where is the pain?
• On a scale of 1-10, with a #10 being the worst pain you have ever had, what number would you rate this pain?
(Alternate scales will need to be used for infants, children, or non-verbal persons)
• Infants (0-2 years old) Modifi ed Behavior Pain Scale5
Measurements Behavior Points
Facial Expression Definite positive expression (smiling) 0
Neutral expression 1
Slightly negative (grimace) 2
Definite negative expression 3
Cry Laughing/giggling 0
Not crying 1
Moaning quietly, whimpering 2
Full cry/sob 3
Movements Normal activity 0
Rested & relaxed 0
Partial movements (squirmy, arching, tensing, clenching) 1
Attempting to avoid pain 2
Agitation with complex movements involving the head,
torso or other limbs; rigidity
3
• Toddlers, young children/non-verbal persons
• OUCHER
• Wong Baker FACES pain rating scale
When did this pain start? Is this new pain or pain that you have had before?
Do you know what might be causing this pain?
What makes this pain worse? Have you done anything to try to make this pain better? Did it work? If you have
had this pain before, what might make this pain better?
Who Can Help Manage Pain?
Depending on the cause of your pain, there are many medical providers that can assist with management.
What Can Cause Pain?
We have engaged the assistance of several experts in Duchenne from across the U.S. to develop the chart below.
This chart identifi es possible causes of pain/discomfort for children, teens/tweens, and young adults/adults living
with Duchenne. It is by no means comprehensive and should never take the place of a medical consultation, but it
may give you some clues and places to start in the evaluation of pain.
Pain chart (https://www.parentprojectmd.org/wp-content/uploads/2018/04/Pain-Chart.pdf)
13
MD
STAGE: EARLY (0-10 YO)
SOURCE OF PAIN POSSIBLE CAUSES Diagnosis and/or POSSIBLE TREATMENT
Musculoskeletal
(cramping, aching)
Shortening tendons (legs, feet),
toe walking
• Treatment: Heat, massage, analgesics (Tylenol), stretching, braces
(AFO’s)
Musculoskeletal (aching) Hypokalemia (low potassium – • Diagnosis: evaluation of serum potassium
very rare)
• Treatment: supplementation as needed
Musculoskeletal (aching) Vitamin D deficiency • Diagnosis: blood tests (25 OH vitamin D level)
• Treatment: dietary evaluation and supplement vitamin D as needed
Leg/foot
Poorly fitting orthoses/braces
(AFO’s, KAFO’s)
• Diagnosis and treatment: evaluation by orthotist to check fit;; offer
analgesic medications as needed
Abdomen
Gastroesophogeal reflux (GERD,
“heartburn”)
• Treatment: Avoid NSAID’s (aspirin, ibuprofen, naproxen);;
antacids/proton pump inhibitors (PPI’s) may help
Abdomen Constipation • Treatment: Increase fruit, fiber in diet;; ensure adequate hydration;;
medications: laxatives, stool softeners
Abdomen
Hypercalcemia (calcium level is • Diagnosis: Evaluation of serum calcium level
too high – very rare)
• Treatment: evaluation of calcium in diet/supplements;; adjust as needed
Headache
If worse in am, consider
obstructive sleep apnea or
• Diagnosis: careful history, sleep study to evaluate for obstructive sleep
apnea and/or nocturnal hypoventilation
nocturnal hypoventilation
(ineffective breathing during
sleep)
• Treatment: assistive ventilatory assistance as needed (C-PAP if
obstructive sleep apnea is diagnosed;; BiPAP or VPAP for nocturnal
hypoventilation)
STAGE: TWEENS AND TEENS (11-17 YO)
SOURCE OF PAIN POSSIBLE CAUSES Diagnosis and/or POSSIBLE TREATMENT
Musculoskeletal
Back and hip pain
(aching)
Back pain (NO history of
trauma)
Poor posture, uncomfortable
positioning/pressure
• Treatment: Change position/pressure frequently;; equipment evaluation
for changes needed in positioning/pressure;; offer analgesic
medications as needed
Compression fractures • Diagnosis: X-ray to determine the presence of fractures, evaluation for
osteoporosis
• Treatment: evaluation for osteoporosis;; management of osteoporosis;;
offer analgesic medications as needed
Back pain (chronic) Scoliosis • Diagnosis: X-ray to determine the presence of scoliosis
• Treatment: continuous evaluation and management by orthopedics;;
surgical correction as indicated;; offer analgesic medications as needed
Musculoskeletal (aching) Hypokalemia (low potassium – • Diagnosis: Evaluation of serum potassium
very rare)
• Treatment: supplementation as needed
Musculoskeletal (aching) Vitamin D deficiency • Treatment: Assure adequate intake of Vitamin D and calcium;;
evaluation of 25 OH Vitamin D level;; supplementation as needed
Chest pain Musculoskeletal pain • Diagnosis: moderate to severe pain, worsens with movement,
breathing, coughing;; gets better and worse
• Treatment: Warmth, rest;; analgesic medicine as needed
Chest pain Cardiac • Diagnosis: severe chest pain, constant and consistent (does not get
better or worse, not effected by movement or breathing)
• Treatment: call cardiologist;; go to emergency room
Limb pain (history of
trauma)
Long bone fracture • Diagnosis: X-ray to determine presence of fracture;; continuous
evaluation for presence of fat embolism
• Treatment: management of fracture
Limb pain Joint contracture pain • Treatment: Evaluate positioning, musculoskeletal support;; analgesic
medications as needed
Leg/foot pain
14
Poorly fitting orthoses/braces
(AFO’s, KAFO’s)
• Diagnosis and treatment: evaluation by orthotist to check fit;; offer
analgesic medications as needed
Abdominal pain
Abdominal pain
Kidney stones (small hard
deposits of mineral and acid salts
in the kidney)
Cardiac disease/heart failure (In
advanced heart failure, the heart
is not able to adequately pump
the blood forward, so there can
be an accumulation of fluid and
blood in the liver and gut;; this can
cause a loss of appetite,
abdominal edema, fullness or
bloating, nausea, and/or vomiting)
• Diagnosis: Presentation may include: severe side and back pain below
the ribs, spreads to abdomen/groin and comes in waves;; pain with
urination, discolored urine (pink, red, brown), nausea/vomiting, constant
and/or frequent urge to urinate, possible chills and fever;; symptoms
may change as stone moves;; constipation;; Blood tests (check for level
of calcium or uric acid in blood);; urine tests (24 hour urine collection to
look for stone-forming minerals), Imaging (X-ray, CAT scan with or
without dye), evaluation of stones that may have already passed.
• Treatment: increased hydration, ultrasound to break up the stone,
surgical or endoscopic removal of the stone. Medications may include:
analgesics, alpha blockers (relax the ureter so that the stone may pass
more easily). Parathyroid gland surgery: too much parathyroid
hormone can increase calcium levels and cause stone formation.
• Diagnosis: cardiac MRI, cardiac ultrasound, blood tests.
• Treatment: Medications may include: diuretics (to decrease the volume
of blood that the heart needs to pump), medications to help the heart
pump more effectively (milrinone);; mechanical devices (ventricular
assist devices or ICD, implantable cardioverter defibrillator or ICD) or
heart transplant may be discussed.
Abdominal pain Constipation • Treatment: Increase fruit, fiber in diet;; ensure adequate hydration;;
medications: laxatives, stool softeners
Headache
If worse in am, consider nocturnal
hypoventilation (ineffective
• Diagnosis: careful history, sleep study to evaluate for nocturnal
hypoventilation
breathing during sleep)
• Treatment: assistive ventilatory assistance as needed (BiPAP or VPAP
for nocturnal hypoventilation)
STAGE: ADULTS (18 +)
SOURCE OF PAIN POSSIBLE CAUSES Diagnosis and/or POSSIBLE TREATMENT
Musculoskeletal
Back, Hip
Pain/pressure • Treatment: Change position/pressure frequently;; equipment evaluation;;
medication as needed
Skin Pain/pressure • Treatment: Evaluate for pressure ulcer;; medical management as
needed
General muscle pain, Hypokalemia (low potassium – • Diagnosis: Evaluation of serum potassium
cramping
very rare)
• Treatment: supplementation as needed
Chronic musculoskeletal
pain
Vitamin D deficiency • Treatment: Assure adequate intake of Vitamin D and calcium;;
evaluation of 25 OH Vitamin D level;; supplementation as needed
Chest pain Hypomagnesia (low magnesium – • Diagnosis: Evaluate serum magnesium levels
very rare)
• Treatment: supplement as needed
Chest pain
Pneumothorax (Severe stabbing • Diagnosis: X-ray, CT scan
chest pain, worse with inspiration,
shortness of breath) (“collapsed
• Treatment: monitoring (if mild), removal of the air with a needle or chest
tube, surgical repair of the leak
lung” caused by air leaking into
the space between the lung and
chest wall causing parts of the
lung to collapse)
Chest pain Cardiac • Diagnosis: severe chest pain, constant and consistent (does not get
better or worse, not effected by movement or breathing)
• Treatment: call cardiologist;; go to emergency room
Abdominal pain
Esophagitis (painful, difficult
swallowing, chest pain)
• Diagnosis: upper endoscopy (a small tube is inserted into the
esophagus and stomach to look at the tissue) or an upper GI/ barium
swallow (to look at the location and extent of esophageal damage)
• Treatment: depends on the cause;; medications may include:
analgesics, antacids, proton pump inhibitors (PPI’s);; dietary
management
Abdominal pain Gastritis (chronic or acute pain) • Diagnosis: upper endoscopy (see above), blood test (to check for
anemia (low red blood cell count), fecal (stool) blood test
• Treatment: depends on the cause;; medications may include: antacids,
PPI’s, antibiotics, dietary management, vitamin B12 (if needed)
MD
Abdominal pain
Abdominal pain
Abdominal pain
Abdominal pain
Peptic ulcer disease (burning pain
in the middle or upper stomach,
worst between meals or at night),
burning abdominal pain, nausea
and/or vomiting;; if severe, stool
may be black or look like “coffee
grounds;;” vomiting blood (“coffee
grounds”), weight loss, severe
mid-upper abdominal pain
Gall stones (hardened deposits of
digestive fluid that form in the gall
bladder;; sudden intense,
worsening pain in the upper right
or center abdomen, back pain
between shoulder blades, right
shoulder pain
Kidney stones (small hard
deposits of mineral and acid salts
in the kidney;; severe side and
back pain below the ribs, spreads
to abdomen/groin and comes in
waves;; pain with urination,
discolored urine (pink, red,
brown), nausea/vomiting,
constant and/or frequent urge to
urinate, possible chills and fever;;
symptoms may change as stone
moves)
Cardiac disease/heart failure (In
advanced heart failure, the heart
is not able to adequately pump
the blood forward, so there can
be an accumulation of fluid and
blood in the liver and gut;; this can
cause a loss of appetite,
abdominal edema, fullness or
bloating, nausea, and/or vomiting)
• Diagnosis: upper endoscopy (see above), blood test (to check for
anemia (low red blood cell count), fecal (stool) blood test
• Treatment: depends on the cause;; may require endoscopic or surgical
repair;; medications may include PPI’s, antibiotics
• Diagnosis: includes blood tests, ultrasound or CAT scan;; HIDA scan
(shows whether the gallbladder is functioning properly), endoscopic
evaluation (ultrasound or retrograde cholangiopancreatography
(ERCP)(can diagnose and remove gallstones)
• Treatment: usually surgical or endoscopic removal of the gallbladder
• Diagnosis: blood tests (check for level of calcium or uric acid in blood);;
urine tests (24 hour urine collection to look for stone-forming minerals),
Imaging (X-ray, CAT scan with or without dye), evaluation of stones
that may have already passed.
• Treatment: increased hydration, ultrasound to break up the stone,
surgical or endoscopic removal of the stone. Medications may include:
analgesics, alpha blockers (relax the ureter so that the stone may pass
more easily). Parathyroid gland surgery: too much parathyroid
hormone can increase calcium levels and cause stone formation.
• Diagnosis: cardiac MRI, cardiac ultrasound, blood tests.
• Treatment: Medications may include: diuretics (to decrease the volume
of blood that the heart needs to pump), medications to help the heart
pump more effectively (milrinone);; mechanical devices (ventricular
assist devices or ICD, implantable cardioverter defibrillator or ICD) or
heart transplant may be discussed.
Back pain (NO history of
trauma)
Compression fractures • Diagnosis: X-ray to determine the presence of fractures;; evaluation for
osteoporosis
• Treatment: analgesics, management of osteoporosis
Back pain (chronic) Scoliosis • Diagnosis: X-ray to determine the presence of scoliosis
• Treatment: continuous evaluation and management by orthopedics;;
surgical correction as indicated
Limb pain (history of
trauma)
Long bone fracture • Diagnosis: X-ray to determine presence of fracture;; management of
fracture
• Treatment: surgical correction and orthopedic management, continuous
evaluation for presence of fat embolism
Limb pain Joint contracture pain • Treatment: Evaluate positioning, musculoskeletal support;; analgesic
medications as needed
Headache
If worse in am, consider nocturnal
hypoventilation (ineffective
breathing during sleep)
• Diagnosis: careful history, sleep study to evaluate for nocturnal
hypoventilation
• Treatment: assistive ventilatory assistance as needed (BiPAP or VPAP
for nocturnal hypoventilation)
16
Important information to know about your/your child/s pain:
Onset
Do you have pain? If so, when did the pain start?
Location
Where on your body does the pain feel worst?
Duration/frequency
Is this new pain or pain that you have had before?
Is the pain constant of does it come and go?
If it comes and goes, how often does it come?
If it comes and goes, how long does it last when it comes?
Severity
On a scale of 1-10, with a #1 being no pain and #10 being the worst pain you have ever had, what number would you rate your pain?
Setting
Where were you/what were you doing when your pain started?
Aggravating or Relieving factors
What causes your pain to get worse? What causes your pain to get better?
Associated Manifestations
Are you experiencing any other symptoms? (i.e., headache, dizziness, nausea, etc.)
Acknowledgements:
• Norbert Weidner, MD, Cincinnati Children's Hosptial Medical Center
• Brenda Wong, MD, Cincinnati Children's Hosptial Medical Center
• Garey Noritz, MD, Nationwide Children’s Hospital
• Kathryn Wagner, MD, PhD, Kennedy Krieger Institute
• Susan Apkon, MD, Seattle Children’s Hospital
• Fawn Leigh, MD, Massachusetts General Hospital
• Dennis Matthews, MD, Children’s Hospital Colorado
• Sindhu Ramchandren, MD, University of Michigan
Tips to Help Avoid Pain
1. Stay hydrated.
Dehydration is known to aggravate many causes of pain. Dehydration can cause headaches, increase back pain,
and can lead to the development of stones in the genitourinary (GU) tract. Drinking water is very important to
your health.
2. Eat a healthy diet.
Eating a balanced healthy diet will aid in digestion, help to prevent constipation, and will assist in weight management,
which may help with some musculoskeletal pain.
3. Stay active, flexible, and in proper alignment.
Continuing physical therapy and using AFOs (ankle foot orthoses) will help to keep the body flexible and in proper
position/alignment, which will help to prevent pain.
4. Relax.
Stress has been demonstrated in many studies to cause or worsen pain in all people. It’s important that you find
a way, and some time in each day, to relax. Go outside, play, read a book, listen to music, do simple yoga, or
meditate – whatever works for you will help to manage life and pain.
5. Spend time together as a family every day.
Spending time together as a family and communicating helps you to be more resilient to stress. As stress worsens
pain, you will be helping manage both!
6. Make sure you/your child is correctly using appropriate equipment.
Ill-fitting AFOs, not supporting the spine and wheelchairs that are not appropriate in size or support will cause
and worsen pain. It is very important to have, and use, equipment that is prescribed. You should also follow up
with your physical therapist or rehabilitation doctor regularly in order to maintain proper equipment and assistive
devices.
7. Get some sleep.
Studies have evaluated the complex link between sleep and pain, showing that each can worsen the other6. It is
17
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important, when seeking methods of management, to manage both sleep and pain.
8. Breathe.
People living with Duchenne should see their pulmonologists and receive pulmonary function tests at least once a
year after age 6. Decreased levels of oxygen, either from obstructive sleep apnea or hypoventilation, will result
in sleep-disordered breathing which affects sleep. It all works together, so make sure that breathing during sleep
is optimized.
References
1. Lager C., Kroksnark AK. G.P.305: Pain in adolescents with spinal muscular atrophy and Duchenne and Becker
muscular dystrophy. Neuromuscular Disorders. Oct 2014; Vol 10, Issue 9, 10, page 913.
2. Zebracki K., Drotar D. Pain and activity limitations in children with Duchenne or Becker muscular dystrophy.
Developmental Medicine and Child Neurology. July 2008. Fol 50, Issue 7, Pages 546-552.
3. Hunfeld JA, Perquin CW, Duivenvoorden HJ, Hazebroek-Kampschreur AA, Passchier J, Van Suijlekom-Smit
LW, et al. Chronic pain and its impact on quality of life in adolescents and their families. J Pediatr Psychol 2001;
26: 145–53.
4. Engel JM, Kartin D, Jaffe KM. Exploring chronic pain in youths with Duchenne Muscular Dystrophy: a model for
pediatric neuromuscular disease. Phys Med Rehabil Clin N Am 2005; 16: 1113–24.
5. Taddio A Nulman I et al. A revised measure of acute pain in infants. J Pain Symptom Manage. 1995; 10: 456-
463.
6. Roehrs T, Roth T. Sleep and pain: interaction of two vital functions. Seminars in Neurology. 2005; 1: 106-16.
Article available at: https://www.parentprojectmd.org/care/care-guidelines/by-area/pain/
Congratulations to our Winners
with MOVE4MD
Congratulations to Charlotte Dorfl ing and
Anri Human who both won a midweek
getaway holiday sponsored by ATKV
for their participation in MOVE4MD and
bringing in the most donations!
We would like to thank everyone who
participated and managed to run/cycle
over 4500 km in the name of raising
awareness for Muscular Dystrophy.
Thank you to ATKV for sponsoring the
terrifi c prizes!
18
TRAVEL
PORT ELIZABETH PLEASURE
By Hilton Purvis
We travel to the Addo Elephant National Park as often
as the budget allows. Travelling up to the park and
returning home afterwards takes time. The park is
nearly 1 000 km from Cape Town, and although we
turn the road trip into part of the whole getaway, the
primary objective is to spend as much time as possible
inside the park. With this in mind we have developed a
cunning plan to maximise our wildlife viewing
experience.
We check in to a bed-and-breakfast in Port Elizabeth
the day before we enter the park and again on the day
we exit the park. This allows us to make an early start
and the ability to fi nd ourselves at the south entrance
of the park on the morning of our arrival, fresh, fully
stocked with our food supply (we always self-cater) and
with virtually an entire day to quietly meander up the
park to the main rest camp, where we can check in later
in the afternoon. This effectively means that we get
ourselves four or fi ve hours of game viewing before we
even check in.
We then settle in and enjoy our reserved days in Addo
and on departure leave the main rest camp in the
mid-morning and quietly work our way south through
the park for the remainder of the day, leaving the
southern gate in late afternoon for our bed-and-breakfast,
which is less than an hour away. Our entry and exit
days therefore become leisurely and relaxing, free from
the usual hot and bothered arrival after a long day on
the road and from chasing the clock when we depart in
order to get to our overnight destination.
It is one thing having a plan such as this but quite
another implementing it, particularly when wheelchair
accessibility is a requirement. Fortunately help is at
hand in the form of the Forest Hall bed-and-breakfast
guesthouse located in the leafy suburb of Walmer
in Port Elizabeth. It is less than an hour's drive from
Addo (via the N2 to Colchester), making it an excellent
springboard to the park and the perfect stop-over when
leaving the park.
Located inside a large, sprawling wooded property,
Forest Hall offers two wheelchair accessible suites
depending on your individual requirements. They are
comfortable, spacious and fully equipped for self-catering
whilst also offering the option of a delicious morning
breakfast, one you should really make space for! Each
unit has a private veranda and provision for adjacent
parking. The bathrooms are large and fi tted with grab
rails, heated towel rails, accessible handbasin and rollin
shower.
The ambience is one of quiet comfort, a place to
relax and unwind. There is a choice of shopping
centres nearby, allowing you to stock up on food
supplies, together with numerous restaurants should
you wish to treat yourself to a meal out. The hosts,
James and Hilary Bolton, and their entire staff will do
their best to make your stay a memorable one.
Contact Details
David Bolton - 041 581 3356/072 020 9595/086 660
4848
84 River Road, Walmer, Port Elizabeth
19
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Innovative Assistive
Devices
The JAECO WREX
The JAECO WREX / Wilmington Robotic Exoskeleton is
a functional upper limb orthosis designed to enhance
movement for individuals with neuromuscular
disabilities. Its state-of-the-art construction utilizes a
light weight exoskeleton that approximates normal
human anatomy. Linear elastic bands are used both for
balance and to assist movement in three dimensions
against the effects of gravity. These features provide
for exceptional range of motion to aid in a variety of
therapeutic and daily living activities.
The WREX can be attached to most common
wheelchairs and mobility seating systems utilizing one
of the three Mount Bases provided with the arm.
For more information please watch the video at: https://www.youtube.com/watch?v=8ejkXhtIWrk
Article available at: https://jaecoorthopedic.com/product/jaeco-wrex/
The Snoozle Slide Sheet
What is the snoozle?
• Tubular 4-way slide sheet, goes on top of your regular bed
sheet.
• Comfortable on the outside and extremely slippery on the
inside.
• Slides along with your every move, helping you turn and
switch sides in bed.
• 72 cm wide and 75 cm long
Snoozle benefits
• Helps you move around, turn and switch sides in bed easily.
• Makes your movements in bed smooth and faster, so you
don't need to put in as much effort, lift yourself up from the
mattress, flex as many sore muscles or move as many
For more information please watch the video at:
https://www.thesnoozle.com/products/snoozle-slide-sheet
Article available at: https://www.thesnoozle.com/products/
snoozle-slide-sheet
20
MD
Our Perfect
Lift Story
By Dana Edwards
My name is Dana Edwards and I am the creator and
founder of DNABOT; Perfect Lift.
Perfect Lift was inspired by my son Tanner, who
suffers from Duchenne Muscular Dystrophy. Tanner
cannot stand or use his legs or arms, he is fully
dependent on our family. I refuse to let Tanner’s
disability dictate what we can and cannot do, and
believe that life can still happen for us the way it does
for everyone. I had to fi nd a way for Tanner to get back
into life and feel safe.
Tanner suffers from high anxiety and has a fear of
falling when being lifted (on and off the toilet, in and out
of the shower or tub and on and off the bed) it is horribly
sad. The social isolation that goes with these types of
diseases is heartbreaking and I knew I needed to make
something that could get him to go over to a friend's
house without worrying. We would get invited to
parties and barbecues and it was always the same
problems with the same answer “Thank you but we can’t
get into the house with Tanners chair – or there’s no lift
for him to use the pool”. I had to fi gure out how he could
accomplish these things in other peoples homes. I know
Perfect Lift can get Tanner in the house, on the couch,
in the bathroom, and in the pool. Tanner is able to be
transferred by other people besides myself. I made it
so it’s a two or three person lift. I understand a lot of us
don’t always have the extra hands, but my kids can
easily transport Tanner.
My lift has made life happen again for us. Our family
loves to travel and traveling was exhausting. We always
ask for an accessible room and when we get there, we
get a bathroom that is not wheelchair accessible. It’s
frustrating, and a hardship. We would need to bring a lot
of equipment or have to rent it, but with my Perfect Lift,
we are able to just go now. We're able to lift him on and
off the bed, onto any toilet, in and out of any shower or
tub, and walk him into the pool or hot tub. We've lifted
him on a plane, even on a boat and into the Gulf of
Mexico. The Perfect Lift is a wonderful tool to help put
someone safely onto a "pool lift" without hurting your
back, or dropping someone who is wet and slippery. It’s
safe and it’s strong. My son weighs 110 pounds. The
water drains right through and has a commode cut out,
making it easily accessible for anyone – male or female
– to use the restroom. I keep our Perfect Lift under my
son all day. He feels comfortable and safe. As his mom,
the part I love most is how quickly we can get him where
he needs to be, especially in case of an emergency.
Perfect Lift has helped my son to be transferred around
easily, and it is my hope and prayer that it will help
anyone that is elderly or has a disability to be able to
enjoy life again. I am proud of what I have done and I
am so happy we can live life again. Tanner my son now
has his life back, and I hope you will start living too.
For more information please watch the video at:
https://perfectlift.org/media
Article available at:
https://perfectlift.org/our-story
21
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Celiac Disease Associated with
Facioscapulohumeral Muscular Dystrophy
By Dorottya Kocsis, László Herszényi, Miklós Tóth, Zsolt Tulassay, Márk Juhász
Semmelweis University, 2nd Department of Internal Medicine, Budapest, Hungary
1. Introduction
Celiac disease (CeD) is a widespread autoimmune
disorder that is initiated by the ingestion of wheat
gluten and other proteins related to rye and barley in
genetically predisposed individuals, characterized
by the presence of a variable combination of gluten
dependent clinical manifestations, CeD specifi c
antibodies, HLA-DQ2 and DQ8 haplotypes and
enteropathy. However, CeD may manifest itself at any
age, with the potential involvement of any organs. In
adulthood, “classic symptoms” including diarrhea,
abdominal distension, malabsorption syndrome as
typical clinical feature are commonly absent. Patients
may exhibit minor gastrointestinal complaints, as well
as numerous extra intestinal manifestations. The
prevalence of CeD is roughly 1%. For the diagnosis
of CeD in diet-naive adult patients serological and
histological examination is necessary. Currently, the
only appropriate treatment for CeD is a lifelong gluten
free diet (GFD) [1].
Nowadays, the range of diseases that can be proven to
occur more frequently in untreated CeD has expanded.
CeD or gluten sensitivity may initially present as one
or more neurological signs and/or symptoms. On the
other hand, it may be associated with or complicated
by neurological manifestations. Neurological manifestations
can be seen in nearly 10%-36% of CeD
patients, the most common being cerebellar ataxia
and neuropathy.[2,3] Other neurological manifestations
are epilepsy, cognitive disorders, dementia, tremor,
myelopathy, neuropathy, brainstem encephalitis,
progressive leukoencephalopathy,vasculitis, occipital
calcifi cation, anxiety/depression, and myoclonic
syndrome. They also include neuromuscular
manifestation such as peripheral polyneuropathy,
mononeuropathy multiplex, dermatomyositis,
polymyositis, and inclusion body myositis [4].
Facioscapulohumeral muscular dystrophy (FSHD) is
a common type of adult muscular dystrophy and is
divided into types 1 and 2 based on genetic
mutation.[5] Clinically, in both FSHD types, patients
suffer from a progressive and irreversible weakness
of the facial, shoulder and upper arm muscles. With
disease progression, other muscles may also become
affected. Interestingly, muscle weakness in FSHD is
often asymmetric. Symptomatic non-muscular disease
manifestations are rare but can include sensorineural
deafness, retinovasculopathy and intellectual
disability. Pain and fatigue is a frequent complaint.[6]
Approximately 95% of patients, termed FSHD1, have
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MD
a deletion of a key number of repetitive elements on
chromosome 4q35. The remaining 5%, termed FSHD2,
have no deletion on chromosome 4q35. With an
incidence between 1:15,000 and 1:20,000 FSHD is
the third most common myopathy.[7,8] The age at
disease onset ranges from infancy to middle age with
the majority becoming symptomatic in the second
and third decade of life.[9] Nowadays, no therapy is
available for FSHD. However, patients usually report
some improvement related to physical exercise and the
use of nutritional supplements [10,11].
The aim of this case report is to show an unusual
association between CeD and FSHD.
2. Case Report
A 35-year-old woman diagnosed clinically with
facioscapulohumeral muscular dystrophy 23 years
ago by pediatrician, with left side scapula alata being
the most prominent symptom. Family history revealed
a strong maternal familial inheritance pattern. Mater
diagnosed with atypical muscle dystrophy, when she
was twenty-four years old, based on weakness of
lower limb muscles, incomplete foot dorsal fl exion and
waddling gait. Neurological examinations were
conducted at Department of Neurology, Heim Pál
Children's Hospital, Budapest, Hungary. Physical exam
revealed bilateral facial weakness, most prominent on
her mouth, resulting in narrow smile and murmuring
speech. She had low-degree atrophy of shoulder
girdle muscles with left-dominated scapular winging.
Electrophysiological studies revealed peripheral
neurogenic lesions in left side supraspinatus muscle
and bilateral serratus anterior muscles, and severe
myogenlesion in orbicularis oris muscle. Lower
limbs muscles were not affected. At the time of her
diagnosis, creatine phosphokinase (CPK) level was
elevated. These results confi rmed the diagnosis of
FSHD. The initial management of FSHD was to take
vitamin E, and to do regular physical exercises. During
follow-up, her general condition were unchanged until
2001, when she neglected physical exercises for one
month. After that, she had weakness in her proximal
hip muscles, gluteus medius muscle, and difficulties
with walking. Because of her continuously increasing
lumbar lordosis it became necessary to wear a
corset temporary. She received creatine monohydrate
terapy, without any signifi cant improvement. In 2004,
DNA test were performed by patient and her mother:
both FSHD tests showed allele 1 deletion. From 2001
patient presented gastrointestinal symptoms, like
epigastrial pain, diarrhoea, and weight loss.
Gastroscopy was performed revealing
gastrooesophageal refl ux disease; at that time,
duodenal biopsy was not taken. She was treated with
proton pump-inhibitor (lanzoprazol). Because of
recurrent abdominal discomfort and temporary
occurring diarrhea, colonoscopy was performed in
2012, with negative result. Patient then went on to
suffer from chronic diarrhea, weight loss and
permanent fatigue and she was unable to do
regular physical exercises. Patients BMI (body mass
index) was 18,7 m2/kg. Consequently, her muscular
dystrophy progressed. Suspicion of malabsorption,
CeD in particular, was raised. Serology proved high
levels of IgA tissue transglutaminase antibody (tTG
IgA:292 IU, and tTG IgG: 2 IU, respectively) and
IgA and IgG deamidated gliadin peptide antibodies
(DGP IgA:228 IU, and DGP IgG:100, respectively).
Duodenal biopsy revealed subtotal villous atrophy crypt
elongation, increased intraepithelial lymphocyte /
epithelial cell ratio, providing a Marsh 3b lesion and
thereby the clinical diagnosis of CeD (Figure 1).
Somewhat surprisingly, DEXA-based osteodensitometry
has shown normal bone mineral density. Patient
started a strict GFD, and was provided with nutritional
supplements. After 3 months of GFD, patient reported
eliminated gastrointestinal symptoms, better general
condition, weight gain and increased muscle strength
her BMI value was 19,89 m2/kg. She continued with
physical exercises.
Histological picture paint with hematoxilin-eosin.
Duodenal biopsy revealed subtotal villous atrophy crypt
elongation, increased intraepithelial lymphocyte /
epithelial cell ratio, providing a Marsh 3b lesion
3. Discussion
The association of CeD and FSHD was not reported
earlier in the literature. The co-appearance of two
diseases could be coincidental, but nowadays many
evidence available to suggest CeD can present
neurological symptoms or be associated with
neurological or neuromuscular disorders.
The pathomechanism underlying of the neurological
manifestation of CeD is still unknown. Recently, there
are several hypotheses about gluten toxic damage
and vitamin malabsorption.[4,5] Neuropathy in CeD
23
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patients presumably mediated in part by
antiganglioside antibodies or by antibodies that target
transglutaminase bound to extracellular proteins such
as fi bronectin. However, these mechanisms have not
yet been established [12,13].
Numerous studies have reported neurological
manifestations in CeD that shown improvement
following the administration of GFD [13,14].
FSHD is the third most common muscular dystrophy,
with a prevalence of 1/20,000. Up until now, no
curative treatment is available. Corticosteroids,
albuterol, creatinemonohydrate and myostatin have
not been benefi cial. Physical exercise, and nutritional
supplements (vitamin E, B12, B6, D etc.) improve
strength and endurance, and may slow the
progression of muscular dystrophy.[11] In CeD, villus
atrophy inhibit the absorption of these nutritional
supplements, and generalized fatigue and weakness
may also occur caused by malabsorption. In this
reported case, introduction of GFD resulted in not only
the elimination of gastrointestinal symptoms, but also
in the improvement of symptoms related to muscular
dystrophy.
4. The Take Home Messages for the Clinicians
Appropriate nutrition is essential for patients with FSHD;
disorders leading to malabsorption contribute to the
deterioration of neurological status, therefore
alertness towards these gastrointestinal diseases,
most commonly CeD, is vital.
References
[1] Husby S, Koletzko S, Korponay-Szabo IR, et
al. European Society for Pediatric Gastroenterology,
Hepatology, and Nutrition guidelines for the diagnosis
of celiac disease. J PediatrGastroenterol Nutr. 2012;
54: 136-160.
[2] Chin RL, Sander HW, Brannagan TH, et al. Celiac
neuropathy. Neurology. 2003; 60: 1581-1585.
[3] Hadjivassiliou M, Grünewald RA, Chattopadhyay
AK, et al. Clinical, radiological, neurophysiological,
and neuropathological characteristics of gluten ataxia.
Lancet. 1998; 352: 1582-1585.
[4] Chaudhry V, Ravich WJ. Neurology and General
Medicine. 3th ed. New York, NY: Churchill Livingstone;
2001. Other neurological disorders associated
with gastrointestinal, liver, or pancreatic diseases; pp.
283-4.
[5] Tawil R, Van Der Maarel SM, Tapscott SJ. Facioscapulohumeral
dystrophy: the path to consensus
on pathophysiology. Skelet Muscle. 2014; 4: 12.
[6] Statland JM, Tawil R. Facioscapulohumeral
muscular dystrophy: molecular pathological advances
and future directions. Curr Opin Neurol. 2011; 24: 423-
428.
[7] Tawil R, Van Der Maarel SM. Facioscapulohumeral
muscular dystrophy. Muscle Nerve. 2006; 34:
1-15.
[8] Mostacciuolo ML, Pastorello E, Vazza G, et al.
Facioscapulohumeral muscular dystrophy: epidemiological
and molecular study in a north-east Italian population
sample. Clin Genet. 2009; 75: 550-555.
[9] Lunt PW, Compston DA, Harper PS. Estimation
of age dependent penetrance in facioscapulohumeral
muscular dystrophy by minimising ascertainment bias.
J Med Genet. 1989; 26: 755-760.
[10] Olsen DB, Orngreen MC, Vissing J. Aerobic
training improves exercise performance in facioscapulohumeral
muscular dystrophy. Neurology 2005, 64:
1064-1066.
[11] Pasotti S, Magnani B, Longa E, et al. An integrated
approach in a case of facioscapulohumeral dystrophy.
BMC Musculoskeletal Disorders 2014, 15: 15.
[12] Chin RL, Sander HW, Brannagan TH, et al. Celiac
neuropathy. Neurology. 2003; 60: 1581-1585.
[13] Alaedini A, Green PH, Sander HW, et al. Ganglioside
reactive antibodies in the neuropathy associated
with celiac disease. J Neuroimmunol. 2002; 127:
145-148.
[14] Akimov SS, Krylov D, Fleischman LF, et al. Tissue
transglutaminase is an integrin-binding adhesion
coreceptor for fi bronectin. J Cell Biol. 2000; 148: 825-
838.
Article published in the International Journal of Celiac
Disease, Vol. 3 No. 4, 2015, pp. 162-164. Available at:
http://pubs.sciepub.com/ijcd/3/4/9/index.html
The Muscular Dystrophy Foundation of SA
would like to thank the National Lotteries
Commission for their support.
EVENTS
During September MDFSA hosted a beauty
pageant to celebrate the uniqueness of all our
beautiful members and their friends or families.
“Beauty is not in the face; beauty is a light in the
heart.”
~ From Selected short works of Khalil Gibran (Library
of Alexandria, 2009)
Congratulations to the winners in the different
categories:
Miss Junior MDFSA - Haley Bacchus
My name is Haley, a ten-year-old young lady, and I would
like to thank you all for choosing me as the winner of my
age group. I have been sick for a while now, starting off
with neck pain and then stomach and leg pain, and I just
got worse after that, from thinking that I had cancer to
being told that it was something that was in my head. I
was in and out of hospital to many different doctors, and I
thank God every day that my mom and dad took me to the
Zuid-Afrikaans Hospital in Pretoria, where Dr Alta
Terblanche (gastroenterologist) and Dr Gregory Lamb
(neurologist) put time and effort into finding out what
was wrong with me and promised that they would not let
me leave the hospital without a diagnosis. On the 1st of August 2020 they diagnosed me with juvenile
myotonic dystrophy, which is a slow progressive muscle disease. It was scary for all of us, but with the right
medication I have been able to feel better each day. I am glad my mom found the Muscular Dystrophy
Foundation; we had a lovely counsellor come all the way to the Vaal Triangle and speak to me, with no
charge for my mom and dad, and it was a huge blessing to know that we have this support system in
place and that if we have any questions or concerns we can just phone them and arrange a visit from our
counsellor.
What makes you unique?
I think what makes me unique is that I am a very friendly and loving child; I love giving back in every way
possible. Another thing that I would say makes me unique is my love for art; I have the ability to make
anything pretty with a bit of paint, glue and glitter. Anything can be beautiful if you just give it love and care.
If the President invited you to chat with him what would you say?
I would first of all thank him for all the hard work he has done during the hard time our country has been
facing because of Covid-19. And then I would ask him if there was any way he could assist South Africa in
countering pollution, so that we can all live in a cleaner and healthier environment. It hurts my heart that
some people have to live in a house or place surrounded by paper and trash.
For what do you feel most grateful?
I am most grateful for my loving and supportive family, especially my mom and dad, who are always there
for me through the good and the bad times. They always tell me that they will love me no matter what. And
that makes me happy.
What is your favourite song and can you sing it?
“Old Town Road” by Lil Nas X featuring Billy Ray Cyrus is my favourite. Yes, I can sing and dance to it.
If you could go anywhere in the world, where would you go and why?
I would love to go to London and have a ride in one of their big red buses.
If you could be anyone else besides yourself who would you be?
I love who I am and the life that I have, so I would not want to change that. I would just like to be myself 25
and no one else.
EVENTS
Master Junior MDFSA – Jason Winslow
What makes you unique?
I’m unique because even though I cannot walk anymore I
never give up and I do everything with a smile and make
others happy.
If the President invited you to chat with him what would
you say?
I would ask him to make all places in South Africa
wheelchair accessible for me and for other people in
wheelchairs. I would also tell him that I will be President one
day too.
For what in your life do you feel most grateful?
I’m grateful for my family, friends and supporters on my
journey with Duchenne and for all the nice things I have.
What is your favourite song and can you sing it?
I have too many favourite songs and I know a lot of the
words for those songs. I love music.
If you could go anywhere in the world where would you go and why?
I would go to Montenegro because I like how the cars race fast on the narrow roads. It’s in my favourite
James Bond movie.
If you could be anyone else besides yourself who would you be?
James Bond.
Miss Senior MDFSA – Caitlin Dorfling
What makes you unique?
I am a people’s person who gets along with most people
without trying hard.
If the President invited you to chat with him what would
you say?
That the government should focus more on programs to
support NPOs financially.
For what in your life do you feel most grateful?
My loving parents and all their support throughout my entire
life. They always give me positive energy and hope for the
future.
What is your favourite song and can you sing it?
Bernice West – “Sonop Blom”; yes, I can decently sing it but
in the shower.
If you could go anywhere in the world where would you
go and why?
I would love to travel to Paris, to go and experience the life of the French.
If you could be anyone else besides yourself who would you be?
My mom ‒ she is a very loving and energetic person. She is always ready to help people, no matter the
situation.
26
EVENTS
What is your favourite song and can you sing it?
My favourite song is “You Light Up My Life” by LeAnn Rimes.
Mister Senior MDFSA – Warren Tefu
What makes you unique?
I don’t allow myself to be discouraged by failure. I use it as
motivation to fix where I have gone wrong. I don’t feel sorry
for myself because of the way I am. I don’t take advantage
of my disability. I take any challenge that comes by and do it
in my own different way.
If the President invited you to chat with him what would
you say?
If I were to be invited by the President I would tell him to
choose a day that celebrates people living with a disability
so that we can be well recognised, because it is very hard to
go out there where people will be staring at us because of
the way we are and it makes it difficult for us to move around
outside freely.
For what in your life do you feel most grateful?
I feel most grateful that I am alive and that there are people
who actually care about us as people living with disabilities
and encourage us to be anything we want to be.
If you could go anywhere in the world where would you go and why?
If I could go anywhere in the world I would go to Portugal, where I would meet my role model Cristiano
Ronaldo.
If you could be anyone else besides yourself who would you be?
Cristiano Ronaldo.
Sunny side up
"I want to be like a sunflower, so that even on the darkest days I will
stand tall and find the sunlight."
As a volunteer organisation we rely on the support and goodwill
of donors to assist us. Your support is needed to help MDFSA
raise awareness about this crippling and often fatal disease, by
purchasing a virtual watering can to assist their sunflower in
growing.
Purchase a virtual watering can for only R10 and follow how our
sunflower grows on www.mdsa.org.za. You can donate via our
Snapcode or EFT. Please use “sunny” as your reference.
Banking details:
Bank: Nedbank, Current account
Acc no: 195 850 2049
Branch: Gauteng West
Code: 198-765 27
People
A Mother’s Story:
Raising my Son with
Duchenne
By Christine Winslown
Around 2 years old Jason still wasn’t walking; all he
did was bum shuffle. I decided one morning to stand
him up and hold his hands tight and make a game
out of it. We sang and played music for him to enjoy
rather than forcing him to walk on his own. “Go back,
go back!!” I would tell him excitedly and let go of his
hands. He fell on his little bum a number of times,
and after many tries he finally got the hang of it.
He started taking a few steps, and this was a major
breakthrough in our house. Finally we were making
progress.
My GP scribbled the word Duchenne on a post-it
note and told me to go home and read about it. That
was the day our lives changed forever.
My pregnancy was a difficult one. At around 10
weeks I was rushed to the ER with heavy bleeding.
I remember the doctor and nurses frantically helping
me out of a wheelchair to prepare for an ultrasound.
I don’t remember much but I will never forget that
moment when the doctor said the baby had a
heartbeat.
I was admitted for a few days. I still don’t know what
the cause was but I was just so thankful that my
prayers had been answered and that my baby was
going to be okay. Little did I know that my baby was
going to be born with a fatal muscle disease.
A pregnancy is supposed to be exciting, happy and
a magical time. Mine was a constant worry, with
fear of a threatened miscarriage happening again.
I didn’t enjoy exercises like the other mommys,
and sadly I had to be cautious with the everyday
activities like climbing stairs.
Baby arrived two weeks early. Everybody who
knows me well will know that my hospital bags had
been packed weeks before. It was a long and
anxious day, with .labour pains that had started from
6 am in the morning.
After the birth I constantly worried whether I was
doing the right thing or teaching and helping my
child correctly, and whether other parents were
judging me.
Jason was eventually walking but falling down a lot.
I remember him falling down on his forehead so hard
that we had to rush him to the doctor.
People would make compliments about his huge
calves. I remember us boarding a plane once and
a lady behind us saying “look at those beautiful big
calves”. Little did we know that this was one of the
key traits of Duchenne muscular dystrophy.
We were invited to play dates, but I got to a stage
where I was making excuses not to go. Jason wasn’t
interacting with his friends; he enjoyed playing on
his own. His speech was delayed, and so he ended
up using his hands to communicate and sometimes
tapping a little harder to get your attention.
As a mother you worry whether people think your
child is naughty. My friends didn’t judge me, but I
always felt they were staring or wondering what was
actually happening. You end up isolating yourself
and your child because it’s just too exhausting and
hurtful to have to explain it all. The worst was when
parents would interfere and say “relax or stop
panicking let him go off”. As a mom you know
something is wrong and you need to be cautious.
There was so much frustration in putting Jason
through so many tests and having doctors and
specialists evaluate him. So much time was
spent at the early childhood intervention centre,
occupational therapy, speech therapy ‒ the list
goes on. Jason presented all the identifiable traits
of Duchenne, but it was not picked up. If only he
had been diagnosed then we could have started
treatment early. Instead we were forcing him to
climb stairs.
28
People
Duchenne changes a person. It changes your
relationships with friends and family. There are
friends and family who will support you on your
journey and there are others who will drift away. I’m
not sure why. Do they not care? Do they not know
how to act when they see Jason in his chair? Do we
not receive an invitation because it’s too much for
them to handle?
I smile. I try to stay positive. I am strong for my
family. I am loyal to my friends and family and
always there to support and love them. But I am also
a mother who is raising a son with Duchenne as
best I can.
I feel terrible writing this, but if I’m going to be
honest about my feelings I will say that it is not
always the easiest thing to watch another child
score a goal or climb a jungle gym. The bitterness
and anger creep in, with the question why my son
is confined to a wheelchair, and the thought that it’s
not fair.
In July 2013, when Jason was 6 years old, he
got the flu, and off to the doctor we went, not
expecting the visit to end like it did. The doctor
prescribed meds, and when we were walking out
he called us back. The doctor had noticed Jason’s
waddle and requested Jason to squat. I explained
that he couldn’t. He scribbled the word “Duchenne”
on a post-it and told me to go home and read about
it. He recommended we go to South Africa for
testing. Clueless about Duchenne, I remember
asking the doctor if it was something that could help
Jason catch up on his milestones.
I called Brohnsonn at work and told him the news
from the doctor. He immediately started googling
for information on Duchenne. Later that day he
arrived home and told me what he had read, and
it felt like the darkest, coldest day ever. It felt like
everything around me was crumbling. Shock, fear
and confusion. I don’t even think I remember what
he said after that.
But there’s another voice that tells me I am meant
to be on this journey. I’m still not completely sure
why, but I do know that it’s made me a better
person, helping me not to take things for granted
and making me less judgmental and more giving.
Jason has been non-ambulatory since March 2017.
It has been exhausting and emotional, with endless
appointments with doctors and specialists. Then
there are also the therapy sessions ….
I ask myself on a daily basis whether I have done
enough. When he goes to sleep will he stop
breathing? Duchenne puts that fear in you.
For now I will continue to raise awareness for
Duchenne. I will continue to pray for a cure. I will not
allow Duchenne to dictate to me. I will travel with my
son, go on adventures, make memories and make
each day count.
How on earth could that be? A fatal muscle
wasting disease? Jason had the biggest calves so
how could it be? We just didn’t know that it was
actually scar tissue. I thought how cruel the doctor
was to even suggest Duchenne.
Any parent will know that when your child has
just a cold or a fever it seems like the end of the
world. Now we’d been told that our only child had
Duchenne. It had entered our family telling us our
son was going to stop walking at age 12 and have a
lifespan ending in his twenties.
People
Living with Becker Muscular Dystrophy
and Playing Sports
By Brad Miller of My Beckers Story
Eventually though the Muscular Dystrophy did
take away my ability to run completely, so my
days of being involved in team sports were over.
So from that point on I was always stuck sitting
on the sidelines watching the other kids play. So
at a very young age I was use to sitting out
especially in school, but eventually I was
exempted from gym class so the feelings of
being left out slowly faded away.
Thankfully around this same time what helped
is the fact that I found a new way to be involved
in team sports, without having to run or push
myself physically. Thanks to a little company
by the name of Sega which introduce their first
gaming system, I was able to get back into
playing sports. You see playing video games
gave me the opportunity to participate in
physically demanding sports that I would never
be able to in real life. See gaming systems like
the XBOX and Sony's Playstation changed
everything for me. I now had the opportunity to
join in with my friend by playing video games.
Growing up like most children playing sports
took up a large portion of my childhood. Living
in Canada it should come as no surprise that I
grew up around street hockey. I could never play
though as my brother and his friends played and
intense game and I would have been unable to
keep up.
The very first sport I was even involved in was
soccer and it felt great to be part of a team. I
actually played on one of the local community
children’s soccer teams and still remember how
much I enjoyed playing. It was at this point I
noticed I was having issues keeping up with the
other kids on my team. While the other children
would run from one end of the field to another I
was getting left behind.
So as you can see I was able to find ways of
adapting to the changes I was facing related
to not being able to play sports anymore. My
only suggestion is to limit the time you spend
playing video games and make sure you also
focus on other things in life. Sure this is what
worked for me but depending on your physical
capabilities you might just be able to participate
in wheelchair related sports such as Tennis,
Basketball or even the Paralympic sport known
as Boccia Ball. I am just glad I found a solution
to living with Becker's Muscular Dystrophy and
not being able to join in playing sports.
Follow Brad’s story on Facebook & Instagram @
MyBeckersStory mybeckersstory.blogspot.com
30
People
How
Jillian Mercado
Beat the Odds to
Become a Model
By Halie LeSavage
29 March 2018
Representation—of diverse ages, skin tones,
body types, and abilities—is an ongoing area
for improvement in the fashion industry. Women
who have a form of disability are particularly
underrepresented, as most campaigns cast
able-bodied models and only a handful of brands
carry fashion-forward adaptive pieces.
Model Jillian Mercado is leading the charge
to remedy this gap in the fashion industry. At
13, Mercado was diagnosed with muscular
dystrophy, a condition that causes muscle
weakness and spasms. "Ever since I can
remember or have recollection, I've always been
in a wheelchair," she says.
Mercado shares that she loved fashion growing
up, but was disappointed by the lack of women
in wheelchairs in her favorite magazines. (Read:
She could never find any women who looked
like her.) "When I had the realization that I didn't
see anyone in the magazines that looked like
me, I was like, 'Oh, well maybe there is and I
just don't have that magazine,'" she recalls. Her
further searches for relatable images came up
empty-handed.
As an adult, Mercado worked to become the
model she wished she had seen growing up.
She switched career paths from fashion
editorial to modeling when a colleague cast
her in her first campaign, but becoming a
model wasn't without its challenges. "This is an
industry where everything is zoomed in.
Everyone sees every single detail. My detail
is very big," she says. "In my mind, I felt like
I had to work a million times harder to prove
everyone in the fashion world that I was there,
and for them to not see my disability. To see me,
first."
After landing her first campaign, Mercado's
been tapped to appear in ads for major brands
including Diesel, Ivy Park, and Nordstrom. Her
mission to increase the representation of
disabled women in fashion is only getting
started. "While I'm alive, I'm going to do
everything that I can to make sure that the
conversation is still going," she says. "You want
to see yourself, especially if you're in a category
that people call 'different' and 'weird.' You want
someone to be like, 'Well, how about that person
who made it?' I can be that person."
Article available at: https://www.glamour.com/story/how-jillian-mercado-beat-the-odds-to-become-amodel
31
People
Jordan Mossom
gains degree with
his autobiographical
picture portrayal of
life with a disability
By Muscular Dystrophy UK
Photography graduate Jordan has praised the
University of Cumbria for supporting him to study
for and gain a degree while living with a rare
muscle-wasting condition.
Growing up with a passion for photography,
Jordan did not think university would be an option
open to him. But he is now a proud member of
the University of Cumbria’s Class of 2020, having
successfully completing his degree this summer.
Jordan said:
Whilst I want to give people an insight into some
of the things they may take for granted, I also
want to give those who are diagnosed with the
condition reassurance that life isn’t scary, to
show what happens and what can be achieved.
He used his final exhibition to build awareness
and help others living with Duchenne muscular
dystrophy.
‘Daytime Disability’ is a snapshot of the daily
support from carers and equipment Jordan relies
upon to allow him to carry out tasks like eating,
bathing and getting dressed, and to enjoy a
quality of life that most people take for granted.
BA (Hons) Photography graduate Jordan captured
his images in the first months of the coronavirus
lockdown, between March and May.
They not only show Jordan using items such as a
ventilator and hoist but provide a personal insight
into his relationship with support workers Lauren,
Brooke and Heather.
Support and facilities at the university’s Brampton
Road campus, Carlisle have played their part.
He said
Everyone has been very friendly and supportive
and the facilities, like the dark room, are
fantastic. They’ve helped make university a real
experience for me and given me confidence to
do this.
Initially it was thought I may have to defer
for a year for accessibility adjustments to be
made but I was glad to be able to start in
September 2017. A new Changing Place was
created on campus whilst I was on the course;
some challenges did take more time than
others to overcome.
The tutors and technicians have been
incredibly supportive. For instance, there’d be
times I’d be late for lectures due to transport
delays. The size of our cohort meant that when
I was late, I was still able to join the group and
they’d be able to help me straight away, bring
me up to speed on what I’d missed.
Jordan’s documentary project features among the
work of 129 final-year arts students on 2020Vision,
a website that is the first fully digital showcase
of those completing courses at the university’s
Institute of the Arts. Jordan encourages those
visiting his online exhibition space to learn more
about his condition.
32
People
Kate Adcock, Director of Research and Innovation,
Muscular Dystrophy UK said
We congratulate Jordan on having achieved this
terrific degree. We also applaud the University
of Cumbria for supporting his studies throughout.
The images for his final project, taken despite
the extra effort needed during lockdown,
are wonderful. This is an outstanding example
of someone with a muscle wasting condition
making every day count. I’m excited to see how
his career progresses.
Jordan’s pictures are available for viewing at:
https://www.2020vision.gallery/photography.
html
and
https://www.jordanmossom.com/daytimedisability
Dr Sarah Bonnar, programme leader for the BA
(Hons) Photography degree, said
Daytime Disability is a project that has brought
some emotions out of Jordan that are
normally hidden behind closed doors out of
embarrassment on having to rely on medical
equipment and support staff to retain
independence.
It has taken lots of confidence for him to show
some of these emotions for the first time in a project
that will be seen by many people, far and wide,
from the public, to friends and family, and to fellow
photographers.
Article available at: https://www.musculardystrophyuk.org/your-stories/jordan-mossom-gains-degreewith-his-autobiographical-picture-portrayal-of-life-with-a-disability/
33
People
Michael - writer, poet, guest
speaker
Michael Lockley is married to Lianne who has Mytonic Dystrophy, which has become more debilitating over
the past 10 years. They lost both their children, Kirsten and Stuart within 8 days of each other in December
2018, their son having been Cerebral Palsied. In Reflections Squared, Michael has put together a collection
of lyrics and poetry that he has written around personal life experiences, as well as reflecting on life
events as a whole. Reflections Squared can be purchased directly from Michael in PDF or Word Format at
R150 a copy and 10% of the cover price will be donated to The Muscular Dystrophy Foundation of South
Africa. It is also available on Amazon Kindle. If you would like to obtain a copy directly from Michael, he can
be contacted on lockley@worldonline.co.za.
Slow motion
Time stands still
When time is done.
Every memory framed,
Perfect picture everyone.
Never ending
Never fading,
Each my own, just mine.
Relived in slow motion,
One picture at a time.
My wife Lianne has Mytonic Dystrophy which is becoming
more debilitating as the years pass by. We
lost both our children within 8 days of each other in
December 2018. I asked her recently why she was
so quiet. She answered: “I am reliving Stuart and
Kirsten’s lives in slow motion.” This was such a deep
connection for me, especially as she is almost totally
blind and pictures in her head, are her sight. Her
words moved me to pen the following words:
Slow motion,
Dreams within my head.
Can’t hug your body,
You can hug my mind instead.
Years seem pointless,
They only measure time
And time has taken
Both of who were mine.
But memories remain timeless,
As constellations grow,
Wrapped in pretty blankets
Starry memories rolled out slow.
Slow motion,
Dreams within my head.
Can’t hug your body
You can hug my mind instead.
Slow motion,
Dreams within my head.
Can’t hug your body,
You can hug my mind instead.
34
Heaven-Wood
People
Leaves sway gently
Jigsaw pieces hung from trees,
Then slowly descending
Upon an Autumn breeze.
Falling before me
Crunched beneath my feet,
Moss carpeted stairways
Fed by rambling waters sweet.
In this hectic world, we all have a real space or imagined
place that we turn to for solitude and comfort. I
love trees and forests and the depth of life that trees
and forests nurture. They are my escape, but given
reality, I often can only escape in my mind.
The only rush of traffic,
Are ants that ply their way.
The only flights are butterflies
That somersault and play.
The only pollution
Is the noise of buzzing bees,
The only intrusion
Is my body soul and me.
Snowflakes falling
From a lofty sky,
Kissing sleeping cradles
as they pass on by.
Cotton balls and icicles
Blanket fallow ground,
Nimble Deer footprints,
Soft without a sound.
The only rush of traffic,
Are ants that ply their way.
The only flights are butterflies
That summersault and play.
The only pollution
Is the noise of buzzing bees,
The only intrusion
Is my body soul and me.
Winter turns to Springtime
Heralding a Summer sun.
Life in full circle
Since time was begun.
This is my paradise
I would die here if I could,
And instantly enter
The Gates of Heaven-Wood.
Stuart, Lianne, Kirsten and Michael at Kirsten’s
wedding in September 2009, Watford England
The only rush of traffic,
Are ants that ply their way.
The only flights are butterflies
That summersault and play.
The only pollution
Is the noise of buzzing bees,
The only intrusion
Is my body soul and me.
35
Research
Breaking news in research
By Muscular Dystrophy UK
FDA accepts application for exon-skipping DMD drug –
26 August 2020
The US Food and Drug Administration (FDA) has accepted
an application from Sarepta Therapeutics for accelerated
approval for Casimersen (SRP-4045), a potential treatment
for Duchenne muscular dystrophy.
The drug, which would be marketed as AMONDYS 45 in
the States, uses exon-skipping technology to skip exon 45 of
the Duchenne gene. This is a technique that involves small
pieces of DNA called ‘molecular patches’ which mask a
portion of a gene where there is a mistake or mutation.
A phase three study is under way to evaluate the efficacy
and safety of Casimersen. Sarepta Therapeutics has already
submitted some data from this study to the FDA, showing a
statistically significant increase in dystrophin production in
patients compared to those who have not received treatment
or have received a placebo. The study is ongoing, and the
FDA has provided a regulatory action date of 25 February
2021.
Promising updates on PTC Therapeutics’ trials for SMA
drug – 17 June 2020
PTC Therapeutics has shared an update on two trials of
Risdiplam, an experimental drug for the treatment of spinal
muscular atrophy (SMA). The drug increases SMN protein
levels, the protein absent in people with SMA. The drug
works by targeting the SMN2 gene.
The SUNFISH trial investigated the effect of Risdiplam
in children and adults with SMA Type 2 or 3. Recent data
show Risdiplam improved motor function after 24 months of
treatment compared to natural history data.
JEWELFISH studies people with SMA aged six months to 60
who have previously been treated with other SMA therapies.
Results showed that Risdiplam led to rapid and sustained
increases in SMN protein levels.
Positive news from Sarepta LGMD2E gene therapy trial
– 10 June 2020
Sarepta Therapeutics has shared an update on two groups of
patients who have received SRP-9003, as part of a study into
its gene therapy for limb girdle muscular dystrophy Type 2E
(LGMD2E).
SRP-9003 is an experimental AAV gene therapy that codes
for the full-length beta-sarcoglycan protein and has been
shown to increase gene expression – the process in which
the instructions in our DNA are converted into a functional
product, such as a protein – in muscle.
It’s a promising step forward in the study of gene therapy
for LGMD2E and provides information relevant to the
company’s other gene therapy studies, such as Duchenne
muscular dystrophy.
Acceleron discontinues drug development for CMT – 10
March 2020
Today, Acceleron announced topline results from its Phase
II ACE-083 trial for Charcot-Marie-Tooth Disease. Although
the drug increased the size of the muscles it was injected into,
this did not translate into a clinical benefit i.e. there was no
improvement in muscle strength or function. Unfortunately,
this means that Acceleron is discontinuing development of
ACE-083 for CMT.
ACE-083 is a drug that inhibits a family of proteins that
negatively regulate muscle growth (including myostatin).
First CNM patient receives anti-sense drug – 5 March
2020
Dynacure have announced that the first person in its Phase
I/II trial, Unite-CNM, has received the drug DYN101. This
is the first time that anyone with centronuclear myopathy
(CNM) has received an anti-sense drug.
36
Research
DYN101 is an antisense drug designed to switch off DNM2,
a gene that is overactive in CNM.
More positive news from SMA SUNFISH trail – 6 February
2020
PTC Therapeutics have shared the clinical data presented at
the International SMA Europe Conference in France.
The study showed improvement in muscle function in people
with SMA type 2 and 3 when treated with risdiplam over
a period of 12 months. Children aged 2-5 years, showed
improvement compared to those not receiving the drug.
In people older than 5, the progression of the condition
stabilised.
FSHD drug granted orphan drug status by FDA – 29
January 2020
Fulcrum Therapeutics has announced that the United States
Food and Drug Administration (FDA) has granted Orphan
Drug designation (ODD) to losmapimod for the treatment
of patients with FSHD. This designation gives Fulcrum
certain financial benefits that will help to lower the cost of
developing the drug. Losmapimod has been shown to “switch
off” DUX4 in cells originating from people with FSHD. The
safety and efficacy of the drug is currently being tested in a
Phase 2 clinical trial. The results from this trial are expected
later in 2020.
Duchenne trial to extend to non-ambulatory boys and
men – 8 January 2020
Pharmaceutical company, Catabasis, and charity Duchenne
UK have announced a partnership to study the drug,
edasalonexent, in the non-ambulatory DMD population.
Edasalonexent works by turning off an enzyme called
NF-kB, which is known to be overactive in DMD. It has been
shown to slow the progression of Duchenne and is currently
being evaluated in a phase 3 trial in boys aged four to seven.
The new study will evaluate the safety and efficacy of the
drug in non-ambulatory boys and men and will be recruiting
in the UK.
Article available at https://www.musculardystrophyuk.org/
news/breaking-research-news/
37
Research
New Duchenne muscular dystrophy drug shows
benefit in clinical trial
By Duke University Medical Center
A new drug offers hope for young boys with the
progressive neuromuscular disease Duchenne muscular
dystrophy (DMD) by potentially offering an alternative to
high-dose glucocorticoids that have significant side effects.
Interim results from a 24-month clinical trial at Duke Health
and other institutions suggest that the drug, vamorolone, may
retain or improve the effects of current steroid treatments but
reduces health risks associated with long-term steroid use.
Vamorolone is an anti-inflammatory steroid that differs from
all 33 drugs in the corticosteroid class because of a distinct
interaction with the body’s glucocorticoid receptors. Duke’s
participation in the study is part of a larger, multi-center
global trial.
Published this month in the journal PLOS Medicine, the
findings are significant because they offer a potential
treatment option for young patients that may reduce the side
effects that occur as a result of treatment with high-doses of
such steroids as prednisone or deflazacort, while retaining the
therapeutic benefit of this class of drugs. Steroid therapy is
currently the only treatment that has been shown to slow the
effects of DMD, an irreversible, progressive muscle disease
that gradually takes the strength of boys.
“This is potentially great news for these boys who are just
beginning the steroid regimen that is our standard-of-care
treatment,” says Edward C. Smith, M.D., a neurologist,
co-director of the Duke Children’s Neuromuscular Program
and a clinical investigator in the trial.
“One of our biggest concerns about high-dose steroid
treatment in these patients is the effect on linear growth and
bone development,” Smith said. “So far, based on the interim
results from this trial, we may be seeing a much less negative
impact on bone health among patients using vamorolone.”
High-dose steroid use halts the development of growth plates
in young patients and inhibits the lengthening of bones,
Smith says. Despite the side effects, steroid therapy has been
shown to extend patients’ mobility and lives. Patients now
frequently live into their 30s, but eventually experience heart
and respiratory failure.
A severe type of muscular dystrophy, DMD is caused by a
genetic inability to create dystrophin, a protein that protects
skeletal and heart muscle from injury caused by normal
contraction and relaxation. The disorder is caused by an X
chromosome mutation and affects mostly boys. There is no
cure.
Smith says young patients typically present with some
degree of delayed motor development and neurocognitive
issues. Behavioral development may also be hampered.
“The boys tend to do relatively well until about ages four
to six,” he says. “Then weakness becomes more pronounced
and eventually impacts their ability to stand and then their
ability to walk.”
Following completion of the six-month study, the 46 trial
participants were given the option to transition to standard
of care using prednisone or deflazacort or continue treatment
with vamorolone through enrollment in a two-year long-term
extension study. All participants opted to continue treatment
with vamorolone.
“We saw statistically significant improvements in the
outcome measures in this part of the overall trial in boys
treated with the two highest doses of vamorolone for 18
months, with improvements in strength and function,” Smith
said. “These improvements appear to be similar to what is
seen on steroid-treated boys, based on data from DMD
natural history studies. Additionally, vamorolone appears it
may have a much better side effect profile than traditional
glucocorticoids, even at the highest doses tested.”
“Although this particular trial was not placebo-controlled,
I am encouraged by the safety and efficacy data and look
forward to results from the larger placebo-controlled trial
(VBP15-004) that is currently underway at Duke and other
sites,” Smith said.
Article available at: https://medicalxpress.com/news/2020-
09-duchenne-muscular-dystrophy-drug-benefit.html
38
Prof Amanda Krause, MBBCh, PhD MB BCh,
Medical Geneticist/Associate. Professor.
Head: Division of Human Genetics.
National Health Laboratory Service (NHLS)
& The University of the Witwatersrand.
Please e-mail your questions about genetic counselling to national@mdsa.org.za.
What is LMNA-related congenital muscular dystrophy?
This term refers to a particular rare type of genetic muscle disease that presents with muscle weakness which typically becomes apparent in infancy or
early childhood (congenital) and can worsen quickly. It is caused by genetic faults in a gene called LMNA.
LMNA-related congenital muscular dystrophy (L-CMD) primarily affects the muscles used for movement (skeletal muscles). Thus affected individuals
have low muscle tone (hypotonia) and muscle wasting (atrophy), typically beginning very early in life (in infancy). The clinical features can, however,
vary considerably in different families. The most severely affected infants are never able to hold up their heads, roll over, or sit. Less severely affected
children may learn to sit, stand, and walk before muscle weakness develops. There may be delays in children reaching their motor milestones such as
sitting or standing unassisted. They may then lose some of these skills as the disease progresses. Spinal stiffness and abnormal curvature of the spine
(scoliosis and lordosis) may also develop. Thickening and shortening of tissue such as muscle fibres develop, especially across joints. This restricts
movement and cause deformity (contractures). Over time most infants and children with L-CMD have trouble eating and breathing due to weakness of
the chest muscles. This problem can be life threatening, and many affected children require support with a machine to help them breathe (mechanical
ventilation).
Some individuals with genetic faults in LNMA may present only with muscle weakness in a limb-girdle distribution in adulthood, with much milder
weakness, and thus LMNA-related myopathies represent a continuum with a broad range in age of onset but overlapping clinical features. The heart
muscle may also be involved. Heart involvement may precede onset of muscle weakness or may sometimes be isolated.
A child with L-CMD is usually the only person in the family to have the condition. A so-called “de novo mutation” had arisen in the sperm or egg from
which they developed. The risk of parents having a second affected child is thus very low, although it may not be zero. The adult onset form is inherited
in an autosomal dominant manner. This means that an affected parent has a ½ or 50% chance of passing the condition on to a child. Although individuals
in a family may have quite variable features, a more mildly affected adult would not be expected to have a child with CMD.
Two of my baby brothers have Duchenne muscular dystrophy. My mother is a carrier. What are the chances
of me being a carrier? My question is if I am a carrier will I get symptoms as I age?
Duchenne muscular dystrophy is a different inherited degenerative muscle disease. It predominantly affects males, as the gene involved is located on
the X chromosome. If a mother is a carrier, she has a normally functioning copy of the dystrophin gene on one of her X chromosomes and a faulty copy
on her second X chromosome. She passes on only one of these genes to her offspring each time, and there is thus a ½ or 50% chance of the male children
of a carrier being affected. Females have a ½ or 50% chance of being carriers, as they also inherit a normal gene from their fathers.
Doctor’s
Female carriers generally do not have features of DMD, although occasionally they can develop mild to moderate muscle weakness. Female carriers of
DMD are also at increased risk of developing a cardiomyopathy, irrespective of whether they have muscle weakness. Thus a baseline cardiac evaluation
by a cardiac specialist is recommended, including clinical evaluation, ECG and echocardiography. This should be repeated every five years.
MDF Gauteng would like to say
thank you to Cool Tech CC for their
continuous and generous support.
39
CAN WE PIVOT?
By Hilton Purvis
The ability to communicate with one another during these
times of COVID-19 has been the saving grace for many
of us, particularly those whose mobility is limited. We do
however live in a time of rapidly evolving technology, and it
has been interesting to see how methods of communication
have changed so fundamentally in such a short time. Cast
your mind back just 40 years, when verbal communication
between individuals over distances was pretty
straightforward. You had a fixed line telephone, you dialled
a number, and you spoke to someone on the other end of
the line who was standing at their own fixed line telephone.
It was a simple method that had existed for many decades.
Along the way we developed portable telephones that allowed
us to roam around the room or house whilst still holding a
conversation. Some were even fitted with speakerphones
so we didn’t need to hold the receiver to our ear. Really
cutting-edge tech!
Then, just about 35 years ago, came a real game changer,
the development of cellular telephones. They first made their
appearance in South Africa in the late 1980s in the form of
some rather clunky construction brick-sized devices. People
with sufficient money to spend installed them in their motor
cars. I remember one friend who found it supercool that he
could telephone me from the driveway to let me know he
had arrived at my house! That was impressive stuff at the
time. The cumbersome early models were followed rapidly
by the first handheld units in the 1990s. Initially thought
of as a tool of the rich and famous, they rapidly gained
traction worldwide, and today we cannot imagine our lives
without our mobiles. I recall one industry expert telling me
in 1995 that he believed mobile phone usage in South Africa
would peak at 500 000 units! When I last checked a couple
of years ago we had passed the 50 million contracts mark.
One would have thought that such a huge leap forward in
communication technology would have at least kept us busy
for a while. After all, there was a handheld device which you
could operate from virtually anywhere in the world enabling
you to phone anyone else, anywhere else, in the world. It was
“Beam me up Scotty” material.
The era of being able only to make cellular calls and send out
SMS messages (limited to 140 characters) lasted only about
15 years before we saw the development of the smartphone.
Yet another game changer. Suddenly we had an intuitive
device that was no longer limited to voice calls but could
also transmit video, record photographs and video, and
transmit unlimited packets of text. The cellular phone had
come of age and in just over two decades had become a
complete communication device. Technological
developments had allowed devices to become exponentially
more powerful than previous models, record better
photographs and video, store an almost infinite amount of
information, and keep running through the busiest of days.
It seemed that we had reached the peak, but the lessons
of history should tell us that engineers don’t understand
the term “peak”. The further development of wireless
technology, networks and fibre transformed the modern
cellular phone from being a recording and storage device
to a communication medium, a link in the chain rather
than a piece of hardware at the end of a line. Storage is no
longer a factor, as everything we have and everything we
need to obtain is available on the internet or sitting in a
Cloud. This ability to send and receive information (data)
has been coupled with the decreasing cost of transporting
that information across networks. The phone is now able to
interact! Yet another game changer.
We are no longer limited to communicating one to one but
can communicate to many, in fact to millions with a single
press of a button. The smartphone has created an entirely
new culture and brought along with it a new name, “so-
40
cial media”. Applications such as Twitter, Instagram, and
WhatsApp, to name but a few, have fundamentally altered
the way we communicate, not always for the better but
undeniably and permanently, and are changing the way we
live and work each day.
Most things in life are zero-sum games. That is to say,
for one to win another must lose. The adoption of new
communication technologies has seen an explosive
increase in messaging, calling, uploading and downloading
of information. It has also seen a rapid decline in the use
of landline communication. The fax machine is dead; so
is the traditional telephone. Just a few weeks ago I put my
trusty fax machine out to pasture. The last receipt, still
hanging from the paper roll, read 2013! It had also
functioned as my landline answering machine. Following a
recent holiday we returned home after three weeks’ absence
to find not a single message on the machine. No one leaves
those messages anymore; if you can’t reach someone you
send them a text message. I terminated my landline contract
some time ago after I had determined that only two people
ever phoned me on the landline. Everyone else,
including my 86-year-old mother, uses a cellular phone.
Even traditional cellular communication has become a
victim of its own
success and is on the decline, as more and more of us
make use of “on the top” applications such as WhatsApp,
Skype and Facebook to make voice calls, send messages, and
exchange photographs and video.
This is all very interesting but, I hear you ask, why are you
discussing it in the MDF Magazine? The reason is that this
ongoing evolution in communication, perhaps more of a
revolution, holds tremendous opportunities for disabled
individuals.
Firstly, the physical devices are becoming easier to manage
for those of us with limited dexterity. I am able to operate a
range of communication applications, including my mobile
phone, directly with my computer mouse. At the click of a
button I can make and receive voice and video calls, send and
receive text messages, and access the internet.
Secondly, the ability to reach out to many people with the
single press of a button is hugely advantageous. Zoom,
Skype and Microsoft Groups can place us into a meeting
room anywhere in the world, interacting with one or more
people seamlessly.
Thirdly, the technology is rapidly becoming more affordable,
and in fact most everyday applications are available free of
charge. Mobile calls and SMSs used to cost money; now
WhatsApp and Skype calls are free.
Fourthly, we are seeing online learning and home schooling
merging into a cohesive probability for the future, enabled
by these new communication technologies and propelled by
the realities of lockdown. This evolution in learning is likely
to increase and offers unlimited opportunities for disabled
individuals seeking to gain much-needed skills in a world
where education facilities are often inaccessible.
Fifthly, the technology has opened the way for increased
work from home, which is ideally suited to many of us who
have found traditional workplaces to be unreachable and
inaccessible. This process has been accelerated by
COVID-19, which has seen working from home shift from
being unusual to becoming the norm.
We are living in a time of rapid change. The events described
above refer to technologies; however events of the last eight
months are pointing towards tremendous societal changes
as well. It is intimidating, but like it or not we are all along
for the ride. COVID-19 has given rise to a new buzzword,
“pivot”. It asks the question whether you can “pivot” (or
turn) from the old normal to the new normal. Much of this
adaptation will be achieved through communication
technologies in both the form that we currently understand
and see around us and in new developments yet to come. It
is important that we as disabled individuals remain on top
of matters, leveraging these developments to our maximum
advantage.
MDF Quiz Nights
Thank you to everyone who participated in the MDF
WhatsApp quiz nights over the past few months.
We deeply appreciate your support and for joining us for a
few quizzes which turned out to be a whole lot of fun!
41
ON THE SPOT, SCOTT…
Where does the money come from?
By Robert Scott
It has been a long time since all of our lives changed with
the COVID-19 pandemic and the hardships started that we
have had to face as a result. We have had to adopt a newer,
“cleaner” way of living and don our face masks before going
anywhere.
While so much of our lives has changed, one thing that hasn’t
changed is the need for money. We all need it in our lives, and
it is something that is not easy to acquire at the best of times,
much less now. This prompts me, as a long-time employee
of the Muscular Dystrophy Foundation, to consider the issue
of where charity organisations get their funding to deliver
services and assist their beneficiaries.
Charities do not have an endless supply of funding that is
simply handed over by good Samaritans on a daily basis.
These funds are difficult to acquire, and a lot of hard work
by dedicated employees is required in order for funding to
materialise.
What I mean by this is that to raise a certain amount of money,
you will need to organise an event or campaign to inform
the public about your cause and why this cause is the most
important one for them to get involved in. It is like dangling
a single hook out in the ocean and hoping the biggest fish
around finds your hook the most appealing.
Sounds simple doesn’t it? Well it most certainly isn’t!
Keep in mind that there are many amazing charities in the
world and all across our country that do inspirational work
and help those truly in need. The challenge for each and every
charity is to make itself stand out so that people will take
notice of the organisation and its mission and offer their support.
This is no easy task, and often you do not get the result
you had hoped for.
Now don’t get me wrong, there are many generous people
and organisations out there that support charitable causes, but
these are by no means a guaranteed source of income that you
can rely on from month to month. Yet a charity organisation
also has monthly expenses and employees to pay for their
hard work, much as any other business does. The people who
do this hard work are a special breed and are trying to make a
difference in the lives of others, but they too have families to
support and need food to put on the table.
All charities exist to support a greater cause than themselves
and to assist people in need. These charities are usually desperate
for support and are by no means having an easy time
of it, especially in our present circumstances.
If your organisation has supported you in any way, I urge you
to become a lifelong supporter and advocate for its cause.
Spread the word far and wide about the good work your organisation
is doing. You never know when the right person
will hear it and help us make a difference.
42
KIDDIES CORNER
Play is an important part of a child's early development. Playing helps young children's brains to
develop and their language and communication skills to mature.
Resources
• 5 x egg cartons (6 eggs)
• 5 x different coloured paint
• Paintbrushes
• 5 x small containers
• Water
• Scrap paper
• Scissors / Stanley knife
Making building blocks
Extracted from “Making toys from waste materials”
By Cotlands
Instructions
• Mix the paint
• Glue all the lids closed
• Paint the egg cartons (blue, red, yellow, green, orange), place on paper and leave to dry
• Leave 3 cartons whole
o Cut one of the cartons in half using a Stanley knife or large scissor
o Cut one of the cartons in 3 (thirds)
• Use cartons blocks to build tower/objects
• Show how the half and thirds of a carton can make up 1 whole carton
Article available at: https://www.cotlands.org/wp-content/uploads/2019/07/NM-Day-Instructionbooklet-2019.pdf
43
Sandra’s thoughts on…
adjusting to the “new normal” after
COVID-19 lockdown
By Sandra Bredell (MSW)
The COVID-19 pandemic has brought big and rapid
changes to our daily lives, causing uncertainty and
panic. Although we knew that the state of lockdown
was going to be temporary and to the benefi t to us
all, it defi nitely has not been easy. People have tried
frantically to get used to the restrictions brought on by
the COVID-19 lockdown regulations. They have had to
adjust to new habits in doing regular tasks like working,
schooling and shopping. Along with these regulations
people have also had to learn how to deal with the risk
of getting infected by this new virus. A lot of frustration,
stress, anxiety, anger and uncertainty has been
experienced by children, parents and the elderly. But
as every individual person feels the stress, so does the
community and even the rest of the world as a result of
the COVID-19 pandemic.
People have had to adjust to working from home,
having meetings on either Zoom or the Teams platform,
while dealing with children and pets in the same
workspace. This has left parents and children with
particular experiences and feelings. According to Dr
Linda Nicolotti (Wake Forest Baptist Health, 2020),
younger children might have experienced negative
emotions, for example stress, anxiety, anger and
frustration, which manifest in challenging behaviour,
whereas teenagers would show more moodiness and
inactivity. Therefore adults as well as children should
have a constructive and positive way to let out these
emotions. There should be open communication
between parents and their children in which children
can share how they feel and what they are struggling
with and parents can admit that they have also found
adjusting to the new normal challenging.
It comes as no surprise that even in the early days
of lockdown some companies experienced a loss of
revenue resulting in the inability to pay salaries and
eventually in closing down. Whether you have worked
throughout the lockdown as an essential service,
worked remotely from home, or lost your income or
job as a direct effect of the pandemic, you might be
experiencing fatigue, uncertainty and mental anxiety
‒ all this on top of being restricted in movement and
still adjusting to social distancing and wearing a mask.
The consequences should not be taken lightly as they
impact on one’s mental health and overall well-being
(SA Federation for Mental Health, 2020).
Now that some of the restrictions have been lifted,
people need to adjust again. This time you need to
adjust to what you did before the lockdown but with
somewhat different rules and regulations. Students and
scholars need to adjust to going back to the education
system in a way that allows for social distancing and
wearing a mask, while fi nding a space to be productive
and work effectively. This can be quite draining, to say
the least.
So just take a minute and think with me here. It is okay
for us to feel overwhelmed and anxious, especially if
we do not like change, but let us look at a few things
we can do to make things easier on ourselves. The
following tips are offered by various authors for
adjusting well to the new normal.
Nutten (2020):
• Remember that any adjustment is a process on its
own.
• To get through it one needs to be patient and fl exible.
44
• Take time to refl ect on your feelings.
• Focus on the things that you can control.
• Make sure to take regular breaks and do something
nice.
NSW Health (2020):
• Be mindful, be in the moment, and focus on what you
can achieve today.
• Allow yourself time to adapt to new things as your
brain needs to process new information.
Allison (2020):
• Do not focus only on what you cannot do.
• Determine how you can cope and what you really
value.
• Make adjustments to your expectations and view
what is essential in your life.
• Be kind and polite and practice acceptance.
Cornain (2020):
• Allow yourself time to grieve the “old” normal.
• Celebrate anything that puts a smile on your face.
Bradfield (2020):
• If you fi nd it hard to adjust or adapt to the new normal,
keep in mind that the brain is learning new skills.
• Be patient; it gets easier.
In closing, I want to mention what is said by Dr Robert
Leahy (in Allison, 2020), who suggests that we look at
our life as chapters in a book and that, although this
COVID-19 chapter is a particularly hard one, instead
of feeling helpless we can adjust our expectations and
write a story on how we cope with this chapter to keep
it as positive and encouraging as possible.
Be safe and stay healthy!
Sources
Allison, C. 2020. How to adjust to the new normal.
Health Matters. https://healthmatters.nyp.org/how-toadjust-to-the-new-normal/
Bradfi eld, L. 2020. Slow to adjust to the pandemic’s
‘new normal’? Don’t worry, your brain’s just learning
new skills. The Conversation, August 10. https://theconversation.com/slow-to-adjust-to-the-pandemicsnew-normal-dont-worry-your-brains-just-learning-newskills-144198
Cornain, E. 2020. The new normal: how life has
changed due to COVID-19 (and tips to help you cope).
The Skill Collective, 4 May. https://theskillcollective.
com/blog/coronavirus-new-normal
NSW Health. 2020. How to adapt to a new normal during
COVID-19. https://www.health.nsw.gov.au/Infectious/covid-19/update/Pages/adapt.aspx
Nutten, T. 2020. Adjusting to the new normal. Purdue
University Counseling and Psychological Services.
https://www.purdue.edu/caps/covid-19/adjusting-tonew-normal.html
SA Federation for Mental Health. 2020. The nation
should take time to prepare to adjust to the “new normal”
after COVID-19 lockdown. 16 April. www.safmh.
org/the-nation-should-take-time-to-prepare-to-adjustto-the-new-norma-after-COVID-19-lockdown/
Wake Forest Baptist Health. 2020. Talking to children
about our “new normal” during COVID-19 pandemic.
[Interview with Dr Linda Nicolotti]. www.wakehealth.
edu/stories/podcasts/besthealth-podcasts/talking-tochildren-about-our-new-normal-during-COVID19
With an elbow bump, I wish you all the best with this
chapter in your life. As Leahy says, “The chapter is up
to you” (Allison, 2020).
Muscular dystrophy Foundation would like to
thank Nashua West Rand for their continuous
support
WEST RAND
45
Healthy
MUSCULAR DYSTROPHY
By Exercise Right
There are a number of different types of Muscular
Dystrophies. Most of the research into exercise and
neuromuscular conditions has focused on Duchenne
Muscular Dystrophy and Becker Muscular Dystrophy.
This factsheet provides a general overview of benefi ts
for neuromuscular conditions.
Being active is important for everyone, and the benefi ts
of exercise for those with a neuromuscular condition is
just as important. For a long time, there has been the
belief that physical activity has the potential to increase
the rate of muscle degeneration, and that it should be
avoided.
WHY IT’S IMPORTANT TO EXERCISE
Exercise for the management of neuromuscular
conditions is to preserve the functional abilities of the
individual for as long as possible. Delaying the loss
of functional abilities for those with a neuromuscular
condition may prolong a degree of independence, and
assist with the ability to undertake activities of daily
living, and thereby improve mental well-being also.
Other benefi ts of exercise:
• Develop balance and coordination
• Increase fi tness, mobility, fl exibility and independence
• Reduce the risk of illness associated with inactivity
such as obesity, diabetes and high blood pressure
• Improve mental health, self-esteem and coping
mechanisms
• Help reduce pain levels
• Improve sleeping habits
• Create a sense of normalcy
THINGS TO REMEMBER
As the condition develops, an increasing amount of
energy is required for activities and movement, and
often results in increased sedentary time and
inactivity. Inactivity can potentially lead to
secondary degeneration of healthy muscle fi bres
through the progressive disuse of the muscles – the
same effect inactivity has on anyone’s muscles.
This side effect of inactivity is more debilitating for
someone already experiencing progressive muscle
weakness and degeneration. Tailored physical
activity by an Accredited Exercise Physiologist (AEP)
can assist in delaying the secondary deterioration of
muscle tissue and the loss of functional abilities as a
result of disuse.
An Accredited Exercise Physiologist can provide a
well-designed program to ensure the child is
completing regular tailored activity. With an AEP
taking into consideration the maturation of the
individual, as well as severity, rate of progression and
location of the muscle weakness, and careful
selection as to the type of exercise, frequency,
intensity, and duration of training, exercise can be
benefi cial. Regular activity can delay degeneration and
improve/maintain strength and improve quality of life
for the child.
46
Healthy
It is important to note that despite its benefi ts, exercise
is not a cure, and cannot prevent the progressive degeneration
of the muscle fi bres.
TYPES OF EXERCISE RECOMMENDED
The types of exercise benefi cial for individuals with a
neuromuscular condition:
• Flexibility: helps the joints move, and improving fl exibility
can help improve the way the body moves, help
prevent contracture and help minimise injury. Regular
stretching is important, especially for stiff muscles.
Exercises such as yoga can be benefi cial, as well
as a regular stretching program on as many days as
possible.
• Muscle strength: stronger muscles help with movement,
posture, comfort and independence. Muscle
strengthening activities should be done 3 times a
week. Bodyweight, yoga and resistance band exercises
can be benefi cial.
• Aerobic exercise: physical activity that makes us
breathe harder, and improves our heart and lung
function. For some individuals with a neuromuscular
condition, this can be harder to achieve due to
various limitations, but benefi ts to our heart and lung
function can come from strength based exercise too.
• Exercise should be incorporated into a child’s daily
activity and commence with small bouts of 10‒15
minutes.
• Physical activity and movement should also be fun
and designed through play to increase enjoyment for
the child.
Article available at: https://exerciseright.com.au/kidsmuscular-dystrophy/
47
Cape Branch
Welcome to MDFSA!
My name is Samantha Muller. I was born with muscular dystrophy. I
worked as a legal secretary at the Office of the State Attorney, Cape Town
(Department of Justice and Constitutional Development) for 18 years. I
graduated as a social worker in 2017 and started my social work career at
Badisa Saron in November 2019. I started working as a social worker at the
Muscular Dystrophy Foundation in Cape Town on 2 November 2020.
I'm Babalwa Matya, a professional
teacher and a social worker. I worked
for the Department of Education for
15 years. It was during those years when I strongly felt a passion for
social work as I would mostly be involved in helping school children,
teachers and communities around me. I would see myself doing
counselling in some instances out of my passion for helping. It was then
that I decided to enrol with UNISA so as to become a professional social
worker.
I'm happy to be a social worker and get unmeasurable satisfaction each
and every day when I make a difference in a person's life. I can feel I am
where I belong.
Thank you National Lotteries Commission
MDF Cape Branch would like to thank the National Lotteries Commission for their generous funding, which has
enabled us to purchase eight motorised wheelchairs for our members.
Takunda Muchuweni
Dear MDF ‒ I hope you are well and keeping safe. This is Takunda. Thank you for the wonderful wheelchair I got
for school. It really helps me get around the school and on the field easily.
Abubaker Jawa
48
Cape Branch
Ahlumile Dyantyi
Good afternoon Muscular Dystrophy Foundation. I am Ahlumile Dyantyi. I'd like to say thanks so much for the
motorised wheelchair and for the kindness, the caring and the patience that the Muscular Dystrophy Foundation has
always had for me. Have a wonderful day. Thank you again.
Ahlumile Dyantyi
Brintley Singrew
Chantel Wilters
Sanjay Narshi
Shannon van den Heever
Sylvia de Kock
The Muscular Dystrophy Foundation
Cape Branch would like to thank
Gabbie for her generous donation of a
wheelchair. Linda Bloem was very
pleased to receive this wheelchair,
which is a perfect fit!
MDF staff and Gabbie
Linda Bloem
49
Gauteng Branch
50
Thank you.
Dear Muscular Dystrophy
Foundation
I’d firstly like to express my appreciation for the constant assistance
and role you’ve played over the years and especially with
the very recent assistance by providing me with new wheelchair
batteries, a comfortable cushion and a full wheelchair service,
which has helped me a lot in becoming mobile again and not
needing a push.
Life is a struggle that everyone has to constantly battle, and
being physically challenged makes the struggle even greater,
especially when your disability is incurable. Thanks to technology
many of these harsh realities have been reduced.
My COVID-19 experience has been and continues to be a dark
cloud of bad luck which has taken away everything I’d been
working towards. In 2014 I founded a video gaming company
“Entertainment Neighborhood”, which had been a growing success
until it was sadly destroyed by COVID-19. I was kicked out
of my home and am now renting with a friend, after being forced
to sell all my company assets for survival.
Dear Muscular Dystrophy
Foundation
My name is Siphelele Ntshangase. I am 19 years old, and I
am one of the people you are assisting with the wheelchair
repairs.
For a few months I had been struggling with my wheelchair.
It stopped me from going to certain places, from doing certain
things and moving around as well as I used to.
When I found out that I would be receiving help regarding
my wheelchair, I felt a sudden relief mostly because it
meant I would be able to move around freely like I used to
before. It is something I take very seriously and I am grateful
for that.
Your generosity and kindness has left me speechless and
overcome with gratitude and I would like to thank you for
helping me in my time of need. I hope God makes it possible
for you to continue helping other people in need. The
work you do is amazing and I am grateful,
I truly couldn’t have been assisted with my wheelchair at a better time than now, as not only has it made me
mobile but it has also provided me with hope that I can make it out of COVID-19 alive.
I’m currently looking for employment and I’ve been applying everywhere. Hopefully I’ll get a job and be able to
afford both a helper and a shelter for myself.
Thank you.
Lucky Shabalala
I’m grateful and appreciate the help that was given to me.
Gauteng Branch
Dear Muscular
Dystrophy Foundation
I would like to take the opportunity to thank everybody
who was involved in sponsoring of the repairs on my
chair. It has been a rough time for all of us during CO-
VID-19, and just in time I heard that I was granted the
opportunity to get my wheelchair repaired.
My batteries had just started giving up and I was about to
need new ones and luckily the sponsors pulled through
on time. I can now travel for longer distances and for
longer periods of time.
I was also given a new pillow to use and it’s more comfortable
and I can sit for a bit longer without having
sores.
May you continue to stay blessed and making changes to people’s lives such as mine.
I am really grateful.
Masood Hamid
Dear Muscular Dystrophy Foundation
I would firstly like to express my big heartwarming appreciation for the
role you've played and how this changed my life for the better by providing
me with a brand new wheelchair and batteries. I was struggling so
badly but today I can say the struggle is over. I'm happy to have this new
wheelchair ‒ hopefully my picture with a big smile will show you all how
happy I am and thankful for everything.
I never thought this day would come, but they say patience pays even
though through the journey I was losing hope a little bit. I struggled a lot
with my old wheelchair, but by the grace of God all the people who were
supporting me made a new one possible. Thank you so much.
Regomoditswe Mmolaeng
Dear Muscular Dystrophy Foundation
I would like to thank you for helping me get a power chair. I will forever
be grateful for what you have done for me ‒ you have made my life much
easier. I feel so independent and can now move around so much more
easily and can go to shops on my own without being pushed. It has always
been my dream to have a power chair. My mom worked so hard to
find help with getting it but she couldn’t and I started losing hope. Then
GOD sent you angels my way and you helped me reach my dream, and I
will always be thankful. May GOD bless you and may you keep on helping
more people.
Lehlogonolo Kupa
51
IN MEMORIAM
It is with great sadness that we have learnt of the passing of some of our
members. Our thoughts are with their families at this difficult time.
Condolences to family and friends. Ed.
Achumile Nqabo
Anthontyhezs Hufkie
Cheswin Grootboom
Mustafaa Small
Robert Nothnagel
Theo August
SOMEONE I LOVE
Needs a Cure
Please Support
MUSCULAR DYSTROPHY
AWARENESS & RESEARCH
WE NEVER GIVE UP HOPE
Contact us for further information:
The term muscular dystrophy (MD) describes a disorder
that affects the muscles, resulting in progressive
wasting and weakness of the muscle. Symptoms may
appear at birth, in early childhood, or later in life.
Neuromuscular disorders affect not only the muscles
but also the nervous system.
Individuals of either sex and all ages
and ethnic backgrounds can be
affected by MD.
NATIONAL OFFICE
Tel: 011 472-9703
E-mail: national@mdsa.org.za
Website: www.mdsa.org.za
CAPE BRANCH
(Western Cape, Northern Cape & part of Eastern Cape)
Tel: 021 592-7306
E-mail: cape@mdsa.org.za
GAUTENG BRANCH
(Gauteng, Free State, Mpumalanga, Limpopo & North
West)
Tel: 011 472-9824
E-mail: gauteng@mdsa.org.za
KZN BRANCH
(KZN & part of Eastern Cape)
Tel: 031 332-0211
E-mail: kzn@mdsa.org.za