MDF Magazine Issue 63 December 2020. 8 December

chikadee

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.

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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)

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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

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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


MD

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


MD

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

22


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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

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