MDF Magazine Newsletter Issue 55 April 2018

chikadee

Autumn Issue 55

April 2018

R25.00 incl. VAT

Cycle Challenge

Muscle Riders

“Walk/run for

those who can’t”

Suzanne Glover

living with

SMA

"Don't be limited by your challenges.

Challenge your limits"


DF

Magazine

05 MDF notice board

06 National news

07 MD information

11 Disability information

MD INFORMATION

07 Friedreich’s ataxia

09 Stem cells – what are they, and could they be a potential

therapy?

11 SARS disability tax credits

Events

13 Akasia Athletic Club Fun Walk

14 Telkom 947 Cycle Challenge – Muscle Riders 2017

People

18 Peter Neville: Charcot-Marie-Tooth disease

19 Moving up in six questions: An interview with

Rianna Davis

20 Suzanne Glover on living with SMA Type 2

22 Don't be limited by your challenges

Regular Features

28 The View from Down Here

29 Doctor’s corner

30 Sandra’s thoughts on … Uncertainties in life

Research

24 Potential treatment for CMT

24 IBM trial at University College London

25 Preliminary results from FSHD trial

25 Genome editing corrects mutation in new Duchenne

mouse model

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: Pieter Joubert

Copy Editor: Keith Richmond

Publishing Manager: Gerda Brown

Design and Layout: Divan Joubert

Cover photo of Bernadette Francois by Robert Scott

Future Issues:

August 2018

(Deadline: 29 June 2018)

The Muscular Dystrophy Foundation

of South Africa

We are a non-profit organisation that supports

people affected by muscular dystrophy and

neuromuscular disorders and that endeavours to

improve the quality of life of its members.


From The

Due to the rising costs of printing and postage, the National Office is no longer

in a position to print and distribute physical copies of the magazine. It will now

be available only as an e-magazine.

In this issue you will read of personal stories and awareness events. As usual

you will also find MD information and research articles. In order to keep our

readers interested and updated, we will continue to share information and

stories of interest with you. Please share your stories and let us know what you

would like to read about in the magazine.

Timothy Tebow, a professional baseball outfielder, was born in the Philippines

to Christian missionaries. Tebow says his main goal is to live a life he will

be proud of decades from now. He has started the Tim Tebow Foundation,

fighting for those who can’t. He asked the following questions: What are you

fighting for? What are you going to be known for? What is your legacy? Is whatever you are fighting for worth

it? Are you going to stand for something in this life? When I read about his foundation it made me realize that

our foundation has the same values. We want to give a message of hope to families and every person affected

by muscular dystrophy. We’ve got to bring Faith, Hope and Love every day to everything we get in contact with.

Share a message of hope with every single person. If we don’t do it now, when? Will you one day say that you

brought about Faith, Hope and Love and it was worth it?

People should focus on a person’s ability to have a positive impact on this world. We would not have been

able to accomplish our mission to assist affected members without the support of caring people and generous

donors over the years. We hope that you will consider becoming involved with our organisation through prayer

and our fundraising initiatives to change the lives of those affected with muscular dystrophy. We will continue

to do our utmost to support all people affected with muscle-wasting conditions. With your support we can make

a difference!

As Denzel Washington says in his book A Hand to Guide Me (Meredith Books, 2006):

At the end of the day, it’s not about what you have or even what you’ve accomplished. … It’s about who you’ve

lifted up, who you’ve made better. It’s about what you’ve given back.

Regards

Pieter Joubert

gcnetwork

genetic counselling • making sense of genetics

What is genetic counselling?

Genetic counselling is a medical service that provides you with

information about genetics to help you understand the impact of

a genetic condition on your life, and assist you with making

informed personal and medical decisions.

Genetic counsellors: Suretha Erasmus and Noelene Kinsley

Website: www.gcnet.co.za

Telephone: 010 595 1005

Email: info@gcnet.co.za

Cell phone: 082 375 1118 (Suretha Erasmus)

Address: Northcliff Medical Centre, Suite 104, 155 Beyers Naude Drive, Northcliff

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 national@

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?

Branches are responsible for doing

their own fundraising to assist members

with specialised equipment. Contact

your nearest branch of the Muscular

Dystrophy Foundation of South

Africa to find out how you can help

with fundraising events for those

affected with muscular dystrophy.

Fundraising

Crossbow Marketing Consultants (Pty)

Ltd are doing invaluable work through

the selling of annual forward planners.

These products can be ordered

from Crossbow on 021 700-6500. For

enquiries contact the National Office by

e-mail at national@mdsa.org.za or call

011 472-9703.

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.

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

Pieter Joubert

Tel: 011 472-9824

E-mail: gauteng@mdsa.org.za

General Support Group Gauteng

East Rand

Zigi Potgieter

Cell: 082 499 9384

E-mail: z.kerstholt@gmail.com

Duchenne MD

Cape

Win van der Berg (Support Group)

Tel: 021 557-1423

Penny Cato

Tel: 021 671-8702

KZN

Maxine Strydom (Support Group)

Tel: 031 762-1592

Cell: 083 290 6695

Gauteng

Jan Ferreira (Support Group – Pretoria)

Tel: 012 998-0251

Estelle Fichardt

Tel: 012 667-6806

Christine Winslow

Cell: 082 608 4820

Charcot Marie Tooth (CMT)

Hettie Woehler

Cell: 084 581 0566

E-mail: hettie@leefvoluit.co.za

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

Spinal Muscular Atrophy (Adult

SMA)

Justus Scheffer

Tel: 012 331-3061

E-mail: justusscheffer@gmail.com

5


National

First of its kind outside the

borders of the United States

By Gerda Brown

We are happy to announce that on 27 October 2017, the Muscular Dystrophy

Foundation of South Africa (MDSA) awarded the status of Global Certified

Duchenne Care Center to the Red Cross War Memorial Children’s Hospital in Cape

Town. This certification is the first of its kind outside the borders of the United

States and confirms that the Duchenne-specific patient care and services provided

at this centre are provided in agreement with international standards. To retain the

certification, the Red Cross Hospital must satisfy the MDSA that the agreed level of care is being maintained. We are hopeful

that, with this recognition, South Africa will now have access to early therapeutic interventions as part of Duchenne clinical

trials. In the past, South African clinics were not considered viable due to the perception that we had limited resources.

During August and September 2016 the Muscular Dystrophy Foundation was fortunate in hosting representatives from Parent

Project Muscular Dystrophy (a Duchenne-specific organisation based in the United States) to present lectures about Duchenne

muscular dystrophy to our South African families and clinicians. Parent Project Muscular Dystrophy (PPMD) is recognised

around the world as the leader in the Duchenne community. Because of their efforts, families affected by Duchenne have

better access to state-of-the-art care information and research. This visit led to the neuromuscular service, based at Red Cross

War Memorial Children’s Hospital, to apply for certification by the PPMD as a Certified Duchenne Care Center.

Muscular dystrophy (MD) is the name given to a group of more than 70 different neuromuscular disorders causing progressive

wasting and weakness of the muscles. Each type presents differently and with its own levels of complexity. The prognosis

varies according to the type of MD and the speed of progression. Some types are mild and progress very slowly, allowing

normal life expectancy, while others are more severe and result in functional disability and loss of the ability to walk. The

disorders are usually inherited, with the defective gene being passed on from one generation to the next. However, MD can

also occur in families where there is no prior history of the condition.

Duchenne muscular dystrophy (Duchenne) is the most serious neuromuscular genetic disorder diagnosed in childhood.

Because the Duchenne gene is found on the X-chromosome, it primarily affects boys. Duchenne results in progressive

loss of strength and is caused by a mutation in the gene that

encodes for dystrophin. Because dystrophin is absent, the

muscles gradually break down. The progressive muscle

weakness leads to serious medical problems, particularly

issues relating to the heart and lungs. Young men with

Duchenne typically lose the ability to walk between the ages

of 10 and 14 years and live only into their late twenties.

About the Muscular Dystrophy Foundation of South Africa (www.mdsa.org.za)

The Muscular Dystrophy Foundation of South Africa is a registered non-profit organisation consisting of a National Office

and three branches which operate in the nine provinces of South Africa. The Foundation was founded in 1974 by Mr and Mrs

Walker, who at the time had a son affected with Duchenne Muscular Dystrophy. The Foundation was established with the aim

of reaching out to other parents and families in a similar situation and to support research into this disease with the ultimate

goal of finding a cure.

About the Global Certified Duchenne Care Center Program

Created by Parent Project Muscular Dystrophy (PPMD) in the US, the Global Certified Duchenne Care Center (CDCC)

Program offers a path forward for global neuromuscular patient advocacy groups to certify Duchenne Care Centers within

their own countries. Patient advocacy groups, operating within their own country and under the guidance of Parent Project

Muscular Dystrophy’s Certified Duchenne Care Center Program, grant certification to local Duchenne Care Centers that meet

the high standards set forth by this program. Learn more online at EndDuchenne.org/CareCenters.

6


Friedreich’s Ataxia

MD

What is Friedreich's ataxia?

Friedreich's ataxia (also called FA or FRDA) is a rare inherited

disease that causes nervous system damage and movement

problems. It usually begins in childhood and leads to

impaired muscle coordination (ataxia) that worsens over time.

The disorder is named after Nicholaus Friedreich, a German

doctor who first described the condition in the 1860s.

In Friedreich’s ataxia the spinal cord and peripheral nerves

degenerate, becoming thinner. The cerebellum, part of the

brain that coordinates balance and movement, also

degenerates to a lesser extent. This damage results in

awkward, unsteady movements and impaired sensory

functions. The disorder also causes problems in the heart and

spine, and some people with the condition develop diabetes.

The disorder does not affect thinking and reasoning abilities

(cognitive functions).

Although rare, Friedreich’s ataxia is the most common form

of hereditary ataxia. Both male and female children can

inherit the disorder.

What are the signs and symptoms?

By the US National Institute of Neurological Disorders and Stroke

Most individuals with Friedreich’s ataxia tire very easily and

find that they require more rest and take a longer time to

recover from common illnesses such as colds and flu.

The rate of progression varies from person to person.

Generally, within 10 to 20 years after the appearance of

the first symptoms, the person is confined to a wheelchair,

and in later stages of the disease individuals may become

completely incapacitated.

Friedreich's ataxia can shorten life expectancy, and heart

disease is the most common cause of death. However, some

people with less severe features of Friedreich's ataxia live

into their sixties, seventies, or older.

How is Friedreich's ataxia diagnosed?

A diagnosis of Friedreich's ataxia requires a careful

clinical examination, which includes a medical history and a

thorough physical exam, in particular looking for balance

difficulty, loss of proprioception (joint sensation), absence of

reflexes, and signs of neurological problems. Genetic testing

now provides a conclusive diagnosis. Other tests that may

aid in the diagnosis or management of the disorder include:

Symptoms typically begin between the ages of 5 and 15

years, although they sometimes appear in adulthood and

on rare occasions as late as age 75. The first symptom to

appear is usually gait ataxia, or difficulty walking. The ataxia

gradually worsens and slowly spreads to the arms and the

trunk. There is often loss of sensation in the extremities,

which may spread to other parts of the body.

Other features include loss of tendon reflexes, especially in

the knees and ankles. Most people with Friedreich's ataxia

develop scoliosis (a curving of the spine to one side), which

often requires surgical intervention for treatment.

Dysarthria (slowness and slurring of speech) develops and

can get progressively worse. Many individuals with later

stages of Friedreich’s ataxia develop hearing and vision

loss.

Other symptoms that may occur include chest pain, shortness

of breath, and heart palpitations. These symptoms are the

result of various forms of heart disease that often accompany

Friedreich's ataxia, such as hypertrophic cardiomyopathy

(enlargement of the heart), myocardial fibrosis (formation of

fiber-like material in the muscles of the heart), and cardiac

failure. Heart rhythm abnormalities such as tachycardia (fast

heart rate) and heart block (impaired conduction of cardiac

impulses within the heart) are also common.

About 20 percent of people with Friedreich's ataxia develop

carbohydrate intolerance and 10 percent develop diabetes.

• electromyogram (EMG), which measures the electrical

activity of muscle cells,

• nerve conduction studies, which measure the speed with

which nerves transmit impulses,

• electrocardiogram (ECG), which gives a graphic presentation

of the electrical activity or beat pattern of the heart,

• echocardiogram, which records the position and motion of

the heart muscle,

• blood tests to check for elevated glucose levels and vitamin

E levels, and

• magnetic resonance imaging (MRI) or computed tomography

(CT) scans, tests which provide brain and spinal cord

images that are useful for ruling out other neurological

conditions.

How is Friedreich's ataxia inherited?

Friedreich's ataxia is an autosomal recessive disease,

meaning individuals only develop symptoms if they

inherit two copies of the defective FXN gene, one from their

father and one from their mother. A person who has only one

abnormal copy of the gene is called a carrier. A carrier will

not develop the disease but could pass the gene mutation

on to his or her children. If both parents are carriers, their

children will have a 1 in 4 chance of having the disease and

a 1 in 2 chance of inheriting one abnormal gene that they,

in turn, could pass on to their children. About one in 90

Americans of European ancestry carries an abnormal FXN

gene.

7


MD

In 1996, an international research team identified the

Friedreich’s ataxia gene on chromosome 9. The FXN gene

codes for production of a protein called "frataxin." In the

normal version of the gene, a sequence of DNA (labeled

“GAA”) is repeated between 7 and 22 times. In the defective

FXN gene, the repeat occurs over and over again – hundreds,

even up to a thousand times.

This abnormal pattern, called a triplet repeat expansion, has

been implicated as the cause of several dominantly inherited

diseases, but Friedreich's ataxia is the only known recessive

genetic disorder caused by the problem. Almost all people

with Friedreich's ataxia have two copies of this mutant form

of FXN, but it is not found in all cases of the disease. About

two percent of affected individuals have other defects in the

FXN gene that are responsible for causing the disease.

The triplet repeat expansion greatly disrupts the normal

production of frataxin. Frataxin is found in the energyproducing

parts of the cell called mitochondria. Research

suggests that without a normal level of frataxin, certain cells

in the body (especially peripheral nerve, spinal cord, brain

and heart muscle cells) cannot effectively produce energy and

have been hypothesized to have a buildup of toxic byproducts

leading to what is called “oxidative stress.” It also may lead

to increased levels of iron in the mitochondria. When the

excess iron reacts with oxygen, free radicals can be produced.

Although free radicals are essential molecules in the body's

metabolism, they can also destroy cells and harm the body.

Can Friedreich's ataxia be cured or treated?

As with many degenerative diseases of the nervous

system, there is currently no cure or effective treatment for

Friedreich's ataxia. However, many of the symptoms and

accompanying complications can be treated to help

individuals maintain optimal functioning as long as possible.

Doctors can prescribe treatments for diabetes, if present; some

of the heart problems can be treated with medication as well.

Orthopedic problems such as foot deformities and scoliosis

can be corrected with braces or surgery. Physical therapy may

prolong use of the arms and legs. Advances in understanding

the genetics of Friedreich's ataxia are leading to breakthroughs

in treatment. Research has moved forward to the

point where clinical trials of proposed treatments are

presently occurring for Friedreich’s ataxia.

What services are useful to Friedreich's ataxia

patients and their families?

therapists, and speech therapists to help deal with some of the

other associated problems.

What research is being done?

Researchers are optimistic that they have begun to understand

the causes of the disease, and work has begun to develop

effective treatments and prevention strategies for Friedreich's

ataxia. Scientists have been able to create various models

of the disease in yeast and mice which have facilitated

understanding the cause of the disease and are now

being used for drug discovery and the development of novel

treatments.

Studies have revealed that frataxin is an important mitochondrial

protein for proper function of several organs. Yet in

people with the disease, the amount of frataxin in affected

cells is severely reduced. It is believed that the loss of frataxin

makes the nervous system, heart, and pancreas particularly

susceptible to damage from free radicals (produced when the

excess iron reacts with oxygen). Once certain cells in these

tissues are destroyed by free radicals they cannot be replaced.

Nerve and muscle cells also have metabolic needs that may

make them particularly vulnerable to this damage. Free

radicals have been implicated in other degenerative diseases

such as Parkinson's and Alzheimer's diseases.

Based upon this information, scientists and physicians have

tried to reduce the levels of free radicals, also called oxidants,

using treatment with "antioxidants." Initial clinical studies in

Europe suggested that antioxidants like coenzyme Q10,

vitamin E, and idebenone may offer individuals some limited

benefit. However, recent clinical trials in the United States

and Europe have not revealed effectiveness of idebenone in

people with Friedreich’s ataxia, but more powerful modified

forms of this agent and other antioxidants are in trials at this

time. There is also a clinical trial to examine the efficacy of

selectively removing excess iron from the mitochondria.

Scientists also are exploring ways to increase frataxin

levels through drug treatments, genetic engineering and

protein delivery systems. Several compounds that are directed

at increasing levels of frataxin may be brought to clinical

trials in the near future.

Article online at: https://www.ninds.nih.gov/Disorders/Pa-

tient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-

Fact-Sheet

Genetic testing is essential for proper clinical diagnosis, and

can aid in prenatal diagnosis and determining a person’s

carrier status. Genetic counselors can help explain how

Friedreich's ataxia is inherited. Psychological counseling and

support groups for people with genetic diseases may also help

affected individuals and their families cope with the disease.

A primary care physician can screen people for complications

such as heart disease, diabetes and scoliosis, and can

refer individuals to specialists such as cardiologists, physical

8


Stem Cell

Stem cells – what are they, and could they be a

potential therapy?

A mouse muscle fibre showing dystrophin protein

(red), nuclei (blue) and a satellite cell (green). Image

courtesy of Dr Bruno Doreste, University College London.

Stem cells are considered to have great potential for treating

numerous health conditions. We hope this article will help

you understand more about stem cells, and about where

research is in developing a stem cell therapy for musclewasting

conditions.

What are stem cells?

Our bodies are made up of many different types of cells that

are specialised to perform particular functions. For example,

the individual fibres that make up our muscles are specialised

for muscle contraction.

Stem cells are distinct from other cells in our body in that

they are unspecialised. They have the ability to develop

into many different types of cell through a process called

‘differentiation’. They are also able to self-renew, which means

they can keep dividing and producing identical copies of

themselves. These properties therefore make them attractive as

a potential therapeutic option for muscle-wasting conditions.

Stem cells are important in early life and growth, as they

develop into the cells that make up all of our tissues

and organs. But their role doesn’t end there. They are

continually working throughout our lives to ensure we

have all the cells we need. They are essential to the

maintenance of tissues such as skin, gut and blood that

undergo continuous turnover. They are also vital in maintaining

muscle, which can be built up according to the body’s

needs and can often get damaged during physical exertion.

Types of stem cell

By Muscular Dystrophy UK

There are two main types of stem cell found naturally inside

the body:

• embryonic stem cells – as their name suggests, these

stem cells originate from an embryo. They supply new

cells to the embryo as it grows and develops into a baby.

Embryonic stem cells are pluripotent, which means they

can develop into any type of cell.

• adult (somatic) stem cells – these not only supply new

cells as a person grows but also replace cells that get

damaged. Somatic stem cells are multipotent, which means

they can only change into certain cell types. For example,

muscle stem cells (satellite cells) specialise into muscle

cells. However, research has found that some adult stem

cells are more versatile than previously thought. Stem cells

from blood vessels (mesoangioblasts) and even from fat

tissue (adipose stem cells) are capable of becoming muscle

cells under certain growth conditions (see figure 1 below).

Figure 1: Satellite cells are adult stem cells found inside our muscle. They specialise into immature muscle cells called

myoblasts, which fuse together to form myotubes. These myotubes align to form mature muscle fibres. This entire process,

which is highly regulated, requires different signals to trigger each step.

It is also possible to manufacture stem cells in the

laboratory by adding a cocktail of ‘reprogramming’ factors

to specialised cells such as skin cells. These specialised cells

then convert to induced pluripotent stem (iPS) cells, which

can subsequently be converted into any type of cell. iPS cells

are similar to embryonic stem cells in this way.

From a therapeutic perspective, iPS cells can be produced

from a patient’s own cells, which makes them useful

tools for studying the treatment of human diseases. And,

because they’re made from a person’s own cells, they can be

used to create cells that can be transplanted back into the

person without the risk of immune rejection. For example,

iPS cells from someone with a genetic muscle-wasting

condition could be genetically ‘corrected’ outside of the body

using a gene therapy or genome-editing approach, allowed to

differentiate into healthy muscle cells, which are then

transplanted back into the body (see figure 2 below).

9


Stem Cell

Figure 2: Making healthy muscle cells from patient skin cells

Stem cells and muscle wasting

Stem cells found in skeletal muscle are called satellite cells

and their function is disrupted in some muscle-wasting

conditions. This is because the muscle gets damaged

easily and there is a continuous cycle of muscle

degeneration and regeneration. The satellite cells

cannot keep up with the demand for new muscle fibres and

eventually become exhausted and ineffective, which

ultimately leads to muscle wasting.

The underlying genetic mutation can also directly affect

satellite cell function. For example, the mutation that causes

facioscapulohumeral muscular dystrophy (FSHD) leads to

the activation of a protein called DUX4, which is toxic to

satellite cells. The loss of dystrophin in Duchenne muscular

dystrophy may also affect the division of satellite cells.

Stem cell therapy

Stem cell therapy is the transplantation of stem cells into

patients, using either their own cells or those of a donor.

This therapy has the potential to benefit people with musclewasting

conditions, as it could encourage the growth of new

muscle fibres in damaged muscle. However, to date, no stem

cell therapy has been proven effective in treating musclewasting

conditions. There have been few clinical trials, which

have unfortunately been unsuccessful. One of the main

reasons is the difficulty in delivering these cells to the

muscle.

Researchers need to overcome several challenges before

stem cell therapy could become an approved treatment for

people with muscle-wasting conditions. These include:

• growing large volumes of stem cells in the laboratory,

without losing their regenerative properties

• finding a suitable delivery mechanism, so that the stem

cells reach all of the affected muscle

• improving the integration of stem cells into muscle

(engraftment), so that they can successfully make new

muscle cells

• preventing the body’s immune system from rejecting the

transplanted stem cells.

Transplanting a patient’s own stem cells is one way to

reduce the risk of immune rejection. However, for genetic

conditions such as muscular dystrophy, the underlying

genetic mutation would still affect these cells and they may

not function as well as stem cells from a healthy person. This

means that a combination of gene and cell therapy may be

required, by genetically correcting the stem cells in the

laboratory before transplantation.

Alternatively, researchers could use donor or embryonic stem

cells. However, as with an organ transplant, there’s a risk of

immune rejection of the introduced cells. In this situation,

there would need to be careful matching of the donor, and

the recipient may need to take immunosuppressive drugs.

On the Internet, you may come across clinics around the

world offering stem cell therapies; it’s important to remember

that almost none of these are approved. There is currently

only one stem cell therapy approved by the US Food and

Drug Administration (FDA), which targets certain blood

disorders. The European Medicines Agency (EMA) has also

approved one that helps to repair part of the eye after injury.

It is extremely important to test investigational products such

as stem cell therapies in clinical trials and for regulators to

assess them. This ensures the safety of patients, by only

using drugs or treatments that are effective.

Future research

Although there is a lot of ongoing stem cell research for

muscle-wasting conditions, there is no consensus over

which type of stem cell has the most potential as a therapy.

Researchers are investigating a number of different types of

stem cell, and each has its own pros and cons.

Satellite cells – which are found naturally inside the muscle

– might seem an obvious choice for a stem cell therapy but

there are a number of issues with them. When grown outside

the body, satellite cells lose their regenerative capacity and

so do not form large amounts of muscle when transplanted.

They also rely on the host muscle environment to function

properly, so they may only have limited effectiveness in a

dystrophic muscle.

At a recent scientific workshop in Paris, international experts

discussed cell therapy for muscle-wasting conditions, and

how to move the field forward. This important meeting was

organised and hosted by the French muscular dystrophy

association, AFM-Téléthon, with some financial contribution

from Muscular Dystrophy UK and Action Duchenne. When

the scientific report is available, detailing outcomes from the

meeting, we will write a lay summary for you.

Article from the Research section of the Muscular Dystrophy

UK website at: http://www.musculardystrophyuk.org/

progress-in-research/news/

10


Disability

Have a disabled child?

Here’s how to get SARS disability tax credits

(Reprinted from the website of parent24) By Carin Bevan

Disclaimer: This article is aimed at providing general

information only, and should not be seen as financial

or tax advice. For advice about your family’s specific

circumstances and tax claims, please consult SARS

or a tax consultant that is registered with the South

African Institute of Tax Professionals (SAIT).

If you have a child with a disability, you’ve probably

felt the pinch of those extra medical and educational

expenses. But did you know that you could deduct

some of those expenses from your tax?

Who may claim the SARS disability benefits?

In order to qualify for SARS’ disability tax credits, your

child’s condition has to meet certain criteria.

SARS sees a disability as a specific impairment that

has a significant effect (or limitation) on your daily life.

• This could be a physical, sensory (visual or hearing),

communication, intellectual, or mental impairment.

• The condition has to be long term, in other words

likely to last for more than one year.

• The condition must have been confirmed by

a relevant, registered medical practitioner.

• The condition must meet SARS’ specific minimum

criteria (found on this form).

• If the effects of the condition remain moderate to

severe even after the maximum amount of

treatment or therapy, SARS considers it a

disability. But if treatment does have some

effect, it could be seen as a physical impairment

rather than a disability. In this case, you may still

qualify for tax credits, though not to the same extent.

Let’s look at some examples. If your child was

diagnosed with Down syndrome, you don’t

automatically qualify for tax benefits. This is because

the condition in itself does not impact her daily life and

abilities. However, the physical impairments, speech

impediments or intellectual disabilities associated with

the syndrome may qualify.

Another example: if your child has a visual impairment,

but a pair of good glasses helps him function with only

mild limitations, SARS considers his condition as a

physical impairment and not a disability. But if glasses

or therapy have no effect and he still struggles to

perform basic tasks that could be a disability.

What are these benefits?

There are two parts to the tax benefits: an additional

medical expenses tax credit, and a deduction of

expenses directly related to the disability.

Additional medical expenses tax credit

There are limits to how much money taxpayers can

claim back for medical expenses. When one of your

dependents has a disability, the amount you can claim

back is higher – not just for your child with the disability,

but for the entire family. This could mean a significant

refund at the end of the tax year.

Expenses directly related to disability

You can also deduct a portion of expenses directly

related to your child’s disability from your total taxable

income.

These expenses could include salaries for

carers; training courses for parents; the purchase,

insurance and maintenance of aids and prosthetics;

alterations to your home or car to accommodate

your child’s special needs; the training and care of

service animals; specialised therapy and much more.

If your child has special educational needs, there are

a lot of possible deductible expenses. For example:

• School fees — If your child goes to a special

education school, you could deduct anything above

the amount that you would have paid for your

neighbourhood school.

• Travel costs — If the closest special education school

is more than 10 km from your home, you might be

able to claim travel expenses.

• Private tutors or facilitators — If your child needs a

facilitator, these costs could also be deducted.

SARS has published a long list of qualifying

expenses.

It’s important to remember that each child’s case is

unique, and that tax law can get very complex. Just

because something is on SARS’ list doesn’t mean you

can automatically claim it: it has to be directly relevant

to your child’s case. The opposite is also true: just

because something is not on the list doesn’t mean you

can’t claim it. You can deduct anything that SARS sees

as essential to your child’s condition.

11


How do you claim?

Step 1: Complete the form

Download form ITR-DD and take it to a registered medical

practitioner qualified to treat your child’s disability. If

you’re not sure who to speak to, ask your family doctor

or paediatrician for a referral. Do keep in mind that you

may need to pay a fee to get your form completed.

If your child’s disability is confirmed as permanent or

long term, you only need to renew this form once every

five years. If it is seen as temporary, you’ll need a new

one every year.

Keep the form in a safe place. You won’t automatically

submit it to SARS, only when it is required as part of

an audit.

Step 2: Fill in your tax form

When the next tax filing season arrives, you’ll find these

questions on your form:

“Are you, your spouse or any of your qualifying children

a person with a disability?”

“If ‘Yes’, has the disability been confirmed by a duly

registered medical practitioner as prescribed?”

If you’re confident that your paperwork is in order, tick

yes. On efiling, your form will now include the relevant

fields where you fill in your deductions.

Remember:

1. Get a tax specialist

While the process may seem straightforward, it’s not

always the case. “We are finding that SARS is becoming

more and more sticky about claims,” warns SAIT

registered tax consultant Liza Southern. A good tax

specialist can help you keep your claims relevant and

above board, make sure your paperwork’s in order, and

help you deduct expenses you otherwise wouldn’t have

thought of.

2. All paperwork must be in the tax claimer’s name

“Make sure that all medical documents (receipts and

invoices) are in the name of whoever is claiming,”

advises Liza. In other words, if you’re the one

claiming an expense, make sure the invoice is not in

your spouse’s name.

3. Keep all receipts

Keep receipts for your entire family’s out-of-pocket

medical expenses. Remember, you get the additional

medical expenses tax credit for you and all your

dependants, not just for your child with the disability!

4. Keep records

Keep a detailed record of your expenses. If you’re

going to claim travel expenses, for example, you’ll have

to keep accurate records of kilometres.

5. You may be able to claim retrospectively

This means that if you’ve had medical expenses

related to your child’s disability in previous tax years but

perhaps didn’t know about the tax benefits, you could

claim back for up to three previous years as well. But,

warns Liza, you’ll still need the ITR-DD form for those

three years, which means you’ll have to get a specialist

to fill in the form retrospectively.

Article online at: http://m.parent24.com/parent24/Family/Finance_Legal/have-a-disabled-child-heres-how-toget-sars-disability-tax-credits-20170905

Suppliers of Medical

Equipment

CE Mobility

Phone: 0860 236624

Johannesburg, Cape Town, Durban,

Port Elizabeth, Pretoria & Rivonia

Website: www.cemobility.co.za

Impact Medical Supplies

Phone: 011 469-1750

E-mail: impactmed@worldonline.

co.za

Website: www.impactmedical.co.za

Clinical Emergencies

Phone: 011 443-9093

E-mail: clinical@icon.co.za

Website: www.clinicalemergencies.

co.za

Solutions Medical

Phone: 021 592-3370

Website: 12 www.wheelchairs.co.za

Medmedical

Phone: 011 640-5262

Website: www.medmedical.co.za

Medop cc

Phone: 011 827-5893/4/5

Website: www.medop.co.za

Wheelchairs on the Run (Pty) Ltd

Phone: 011 955-7007

Website: www.wheelchairs-ontherun.

co.za

Radical Mobility

Phone: 011 664-6069

E-mail: www.radicalmobility.com

Hands on Lifts (Pty) Ltd

Phone: 011 918-7060/1

E-mail: lynn@handsonlifts.co.za

Website: www.handsonlifts.co.za

Chairman Industries

Phone: 011 624-1222

Website: www.chairmanind.co.za

Flybrother SA

Phone: 011 425-4300

Cell phone: 084 777 5105

Website: www.flybrothersa.co.za

Jessen Dakile (Pty) Ltd

Phone: 011 793-6260

Website: www.jessendakile.co.za

Sheer Mobility

Phone: 021 552-5563

Cell phone: 082 926 5414

Website: www.sheermobility.co.za

Shonaquip

Phone: Cape Town 021 797-8239

Phone: Pretoria 012 665-1211

Phone: Port Elizabeth 079 524-4350

E-mail: nina@shonaquip.co.za

Website: www.shonaquip.co.za

Botlhale Ke Katlego Trading (Pty) Ltd

Phone: 083 424 7231

Website: www.bkktrading.co.za


“Walk/run for those who can’t”

Getting active to raise funds and awareness for people living

with neuromuscular disorders

By Anri Human

What began as a casual conversation

during a breakfast run to assist

children living with neuromuscular

disorders culminated in a full-blown

fundraising project. Initiated by Anri

Human and Naomi Janse van

Rensburg and with the keen support

of the executive committee of the

Akasia Athletic Club and the club

members, the project “Walk/run for

those who can’t” was born.

Members of the Akasia Athletic Club

were asked to raise funds for the

Muscular Dystrophy Foundation

Gauteng by asking others to sponsor

them per kilometre (when running

the Bestmed Tuks race on 17

February) or to donate an amount

to this worthy cause. The MDF

is a non-profit organisation that

provides support to people

living with neuromuscular disorders,

and the MDF Gauteng branch is

responsible for members with

neuromuscular disorders in

Gauteng, North West, Mpumalanga,

Limpopo and Free State. Therefore,

the needs of these members

regarding specialised equipment

and motorised wheelchairs are

numerous, but the resources are

very limited.

Akasia club supported this as their

social responsibility project for

2018, and in the process I realised

that the club members and people

in the northern side of Pretoria have

huge hearts! The Akasia club usually

makes a donation to a selected

charity on an annual basis, and this

year the executive committee,

under the leadership of Pieter Luyt

and Tommy Breedt, decided to

donate R20 000 to MDF Gauteng.

Over and above this donation, 27

Akasia club members worked

really hard and raised an additional

amount of approximately R16 000

through sponsorships, EFT and

cash payments.

After many hours of hard work,

the day finally arrived! The Tuks

Bestmed race at the High

Performance Centre of the

University of Pretoria took place

on Saturday, 17 February. On race

day it was great seeing so many

runners wearing the blue T-shirts

with the slogan “Walk/run for those

who can’t”, with the red MDF and

green Akasia logos.

Some of the Akasia club members

ran with their club tops but with an

MDF logo pinned to the shoulder

in order to raise awareness for this

cause. Some of the children with

neuromuscular disorders, their

parents, Pieter Joubert, Robert Scott

and Mulanga Kharidzha of MDF

Gauteng joined us for the event.

Interacting with other athletes and

getting to know some of the staff

and members of MDF Gauteng,

including little Lian van Eyk and his

parents, who completed the 10 km

race, was a highlight. It was such a

joy to see Lian’s beaming face, although

his parents did most of the

hard work.

A word of thanks to the MDF

members who distributed information

leaflets and magazines on the

day to athletes and others attending

the event. Education is power, and if

we can make the public more aware

of neuromuscular disorders, the war

is halfway won. We believe that we

did raise some awareness since

other clubs also showed interest in

this fundraising event, and we trust

that the money raised can assist in

making life better for many with

neuromuscular disorders.

Thank you to each and every one

who contributed, in whichever way,

to make this day a success. No

contribution went unnoticed. These

acts of kindness reminded me of

the following words by Anne Frank:

“How wonderful it is that nobody

need wait a single moment before

starting to improve the world.”

For a small club like Akasia, with

fewer than 70 members, this was

really a wonderful achievement.

Thank you to every member of the

club who improved the world of

children living with neuromuscular

disorders. I am proud to be part

of this club and to be associated

with the wonderful people from the

MDF.

Lastly, we would like to challenge all

other running clubs to support this

initiative or to host their own events

to raise money for the MDF.


Events

Telkom 947 Cycle Challenge

Muscle Riders 2017

By Robert Scott

The morning of Sunday, 19 November 2017 had

begun. It was still dark, but we were all making

our way to the big event of the day. The time

had come to show everyone what the Muscle

Riders were made of!

This day marked a notable journey for a young

boy named Ludick Fouche, 8 years old and

affected with Duchenne muscular dystrophy. He

was to be pulled in a chariot for 94.7 km with

Angelos Frantzeskos at the helm, flanked by a

wall of other Muscle Riders. The trip was not

going to be easy, but this dynamic duo had a

spirit that could not be broken.

The Muscle Riders were ready, Angelos and

the chariot were ready, and most of all our little

champion Ludick was ready.

Everyone watched the clock, and at 8:16 am the

Muscle Riders took off!

14

We watched as they disappeared into the

distance, and then we turned our attention to

our phones, on which we could carefully track

the riders’ progress as the race went on.

At midday we made our way to the finish line to

welcome our heroes home.

Over the hill they came, including Angelos and

Ludick with the Muscle Riders surrounding

them.

Applause rang through Riversands Commercial

Park as they crossed the finish line in a time of

4 hours and 32 minutes, the very first chariot

across the line. They had done it!

We could not be more proud of the Muscle

Riders of 2017, and our hearts are full of pride

for everything that was achieved.

Thank you to all the Muscle Riders – we could

not have done it without you.


Events

15


FUNKYTOWN,

Jeffreys Bay

By Hilton Purvis

The town of Jeffreys Bay is home of the best

right-hand surf break in the world! The village lies

80 km west of Port Elizabeth midway between the

Gamtoos and Kromme rivers, and the two estuaries

of the Kabeljous and Seekoei rivers. International

surfers flock to catch the legendary waves at

surfing spots named Kitchen Window, Tubes,

Super Tubes, Point and Albatross, each possessing

its own unique magic.

In this, a paradise of sunshine, aloes, dolphins,

shells, perfect points and classic reefs, surfers

and others who found it hard to leave such an

idyllic spot have turned Jeffreys Bay into a

year-round fun place to be. Jeffreys Bay is the home

of thriving surf shops, hand-crafted leather shoes

and shell art industries. The surf culture clothing

shops are synonymous with Jeffreys, and all their

clothes depict scenes in the Bay. Jeffreys is also

the hub of the calamari industry of the Eastern Cape

and is thus in the fortunate position of being able to

supply visitors with this delicacy in abundance.

16

Gotta make a move to a town that's right for me

Town to keep me movin'

Keep me groovin' with some energy

Well, I talk about it, talk about it

Talk about it, talk about it

Talk about, talk about

Talk about movin'

Gotta move on

Won't you take me to

Funkytown

Gotta make a move to a town that's right for me

Town to keep me movin'

Keep me groovin' with some energy

Well, I talk about it, talk about it

Talk about.

Lipps Inc. in their 1979 song "Funkytown"

above might have been describing our desire

to travel and explore, or they might have been

describing the town of Jeffreys Bay. With this in mind

it comes as little surprise that one should encounter

self-catering accommodation named FunkyTown

in the middle of this rather unusual Garden Route

town. What is surprising is that FunkyTown is not

only wheelchair accessible but also furnished from

what looks like an IKEA interior decor catalogue!

Nestled within the little streets near the centre of the

town, this clean, ultramodern, minimalist establishment

offers a communal kitchen, dining and lounge

areas with an external pool deck, and, as with most

tourist businesses these days, free WiFi.

The ground-floor wheelchair accessible room

is spacious and well appointed with a small

kitchenette, work area and large, accessible en suite


athroom with a roll-in shower. Access from the

secure grassed parking area and into the building is

manageable with assistance, but once inside

everything is perfectly level and accessible.

If you are looking to explore the town of Jeffreys Bay

or require a springboard into Port Elizabeth or the

Addo Elephant National Park, FunkyTown should be

on your shortlist of accommodation enquiries.

FunkyTown, Jeffreys Bay

Cell: +27 (0)76 625 0816

Landline: +27 (0)42 293 3860

GPS: S 34.051504; E 24.921219

Website: www.funkytown.co.za

E-mail: info@funkytown.co.za

ACCESSIBLE HOLIDAY ACCOMMODATION

The following establishments offer more wheelchair accessible accommodation which has been used and

evaluated by a member of the MDF. If you have stayed at a venue and found the accommodation to be

wheelchair accessible, please let us know so that we can add it to our database.

Addo Elephant National Park

www.sanparks.co.za/parks/addo/

Cornerway House, Plettenberg Bay

info@cornerwayhouse.co.za

Excelsior Manor Guesthouse, Robertson

www.excelsior.co.za

FunkyTown, Jeffreys Bay

www.funkytown.co.za

Gubas de Hoek, Robertson

www.gubas-dehoek.com

Makaranga Garden Lodge, Kloof, Durban

www.booking.com/hotel/za/makaranga-gardenlodge.en-gb.html

Mountain Zebra National Park

www.sanparks.co.za/parks/mountain_zebra/

Rocherpan Nature Reserve

www.capenature.co.za/reserves/

Storms River Mouth

www.sanparks.co.za/parks/garden_route/camps/

storms_river/default.php

West Coast National Park

www.duinepos.co.za/

17


People

‘It was a very emotional day’

Peter Neville on volunteering at the Cambridge Town and Gown

Peter Neville, 40, from Newmarket, has Charcot-

Marie-Tooth disease (CMT). He and his partner

Tracie say that they volunteer for Muscular

Dystrophy UK at the Cambridge Town and Gown

10k run because they want to “give something back”

after receiving support from the advocacy team.

He said: “I was diagnosed with CMT in February last

year. I went to the GP with what I thought was carpal

tunnel syndrome years ago and had an operation for

it, but I carried on getting the symptoms. I got sent to

Addenbrook’s hospital for tests and then I was sent

to a neurologist, who said to me straight away that

she suspected I had CMT.

“Looking back, I had all the classic symptoms

before, but I’d never picked up on them. I was

always clumsier than everyone else as a child. The

neurologist later confirmed it was CMT.

She told me that it wasn’t life-shortening but it

was life-changing, and suggested that I speak to

Muscular Dystrophy UK straight away for help.

I called the advocacy team, who advised me to

take things one step at a time and told me what

they could do for me. They managed to get me a

neuromuscular care assistant and an occupational

therapist, which really helped.

“There has been a significant deterioration in

my condition since then. Things sped up quite

quickly over the last 12 months. I used to do a lot of

fishing and I find it much harder to do now because

my mobility is more limited. I had a manual car but

I’ve had to change it for an automatic because it was

too painful to drive.

“I stayed in contact with the advocacy team, and they

wrote to the housing association when we needed a

new place because there wasn’t enough room for a

stairlift where we were living. It’s great to have that

support there for you on the whole journey, from the

moment of diagnosis to dealing with problems that

come up later.

“My partner and I volunteered at last year’s

Cambridge Town and Gown as marshals because

we really wanted to give something back. It was a

very emotional day. There was a child participating

who was blind and was running with his carer. When

you see something like that it makes you realise how

giving people can be. I can’t run, and he can’t see,

but there he was there raising money for people that

he wanted to help.

“People could see me there in the wheelchair and I

think it made them realise how much what they were

doing was helping people like me. It was a really

good atmosphere. We’re looking forward to doing it

again this year – I’m just hoping it doesn’t rain this

time!”

Article online at: http://www.musculardystrophyuk.

org/your-stories/it-was-a-very-emotional-day-peterneville-on-volunteering-at-the-cambridge-town-andgown/

18


People

Moving Up in six questions:

An interview with Rianna Davis

Rianna Davis, 25, has Congenital muscular

dystrophy (CMD). In February 2017, after leaving

university due to difficulties with disability support,

she took part in Muscular Dystrophy UK’s work

experience project Moving Up. Rianna interned

with the Events and Campaigns teams and also

became a spokesperson for the charity, appearing

on BuzzFeed, London Live and speaking in

Westminster about her experiences.

Moving Up interviewed Rianna about her experiences

on the project:

Best part of the placement

All of it!

I’ve particularly enjoyed interacting with people and

the variety of the work. I’ve never been bored.

And the least expected?

I was given an increase in responsibility after one

staff member had time off work. It was quite a step

up and I didn’t realise how much work it is to stay on

top of everything!

Anything you’ve found challenging?

All of it! But in a good way.

When I first came here everything was out of my

comfort zone. I just went for it and asked for help

when I didn’t understand something.

How has the placement helped you with regards to

your future career?

I’m definitely more confident. I have more office

based skills like organisation skills.

Also, I’ve learnt more about disability rights and

the help and support I am entitled to. I am more

aware of something happening to me that shouldn’t

because of my disability and how to deal with it. I’ve

taken part in disability rights employment training

and understand now it’s not just me who doesn’t get

replies to applications.

Advice for someone considering the placement

Just go for it! If you get the opportunity, take up a

split placement between departments. I got to see

the fundraising side and the campaigns side.

Describe the placement in a word

Life-changing [can I say that or does it count as

two?]

Article online at: http://www.musculardystrophyuk.

org/your-stories/moving-up-in-five-questions-an-interview-with-rianna-davis/

19


People

‘I’ve always liked to keep busy

and keep moving’ – Suzanne Glover

on living with SMA Type 2

Suzanne Glover, 24, from County Down, was

diagnosed with SMA Type 2 when she was two

years old. She is a student at Ulster University,

doing a PhD that examines how carers cope with

the challenges of helping people with Duchenne

muscular dystrophy, another muscle-wasting

condition.

She said: “Having SMA is simply life as I know it.

When I was first diagnosed, my mum struggled to

lose the image of the little girl running around in a

party dress. But, over time, we met more families

with SMA and it soon became a new image. One

where a little girl, with a wheelchair called ‘whizzy’

and a fearless attitude defied every challenge.

“It turned out that I was still running around, but it

was just a different kind of running around because

I was in a wheelchair. I still caused the same amount

of havoc!

“Being diagnosed with SMA means that you have

to fight for a lot of things. You have to fight for your

independence.

“Initially, my care package for my undergraduate

degree was turned down for being too expensive

because I needed 24 hour care. It took a lot of

determination to change that, but I got there in

the end. It’s important that people know they have

to keep trying, otherwise they can miss out on

opportunities.

“At the moment I’m studying for my PhD, which

takes up a lot of my time, but I’ve always liked to

keep busy and keep moving. I’d like people to know

that the condition doesn’t affect my mind.

“I’m thankful that SMA gives me the drive to

overcome and achieve.

“The chest infections and the battles to get what I

need from health and social care are tough, but I

believe there is a true spirit that most people with

SMA carry. This spirit gives you determination, focus

and a bright personality. In my case, there’s also

mum behind me, supporting me in the direction I

want to go.”

Article online at: http://www.musculardystrophyuk.

org/your-stories/ive-always-liked-to-keep-busy-andkeep-moving-suzanne-glover-on-living-with-smatype-2/

20


People

"Don't be

limited by

your

challenges.

Challenge

your limits"

By Bernadette Francois

When I want to relax I read, listen to music and

cook. I love cooking not only because I love

good food but also because I find it relaxing and

therapeutic – so the more frustrated I am, the more

elaborate the meal!

My name is Bernadette Francois and I am differently

abled. I am a 45-year-old woman living with spinal

muscular atrophy type 2, which affects my spine

and muscles and means that I am unable to walk. I

have been living with this condition since birth.

I was blessed in that my family never saw my

disability as abnormal, which meant that I attended

“normal schools”, took part in all activities, went

camping and fishing on the rocks with my dad and

worked under cars with him in the backyard with my

very own overalls and tools. My friends also never

saw a problem with picking me up and taking me

wherever they were going and my doing whatever

they did.

I originally lived in Durban but moved to

Johannesburg over 20 years ago. The main reason

for my relocating was that in the early 1990s there

were just no employment opportunities for people

living with disabilities.

I love to learn and am always studying to upskill

myself and learn new things. I studied part-time

while working and have an Advanced Diploma in

Project and Programme Management. I would love

to complete a degree in project management.

I love working in customer service. In 1999 I started

working as a switchboard operator for Alexander

Forbes Financial Services and after a year was

promoted to frontline supervisor, managing the

reception and switchboard areas for a couple of

years. I had the opportunity to attend a management

programme and started working in the call centre

before being promoted to team leader. In 2005 I

joined STANLIB as a call centre team leader and a

year later became the assistant call centre manager.

I currently work in recruitment and will be partnering

someone in this area to start our own agency in the

near future.

I adopted my daughter when she was 3 years old

and she is now 12. She is my passion. I cannot

afford to hire a 24-hour caregiver, so my daughter

has to help me sometimes. This is frustrating for

me. I always need to have someone to assist me as

I cannot reach all the appliances.

Public transport in most areas is not accessible.

Uber is great, but because I use a motorised

wheelchair which is difficult to fold, I have to use

Ubervan, which is not cost effective and also limits

me because there are not as many vans available.

I enjoy using a motorised wheelchair, especially

in shopping malls, because I do not have to stand

in queues for lifts, at paypoints and at banks and

restaurants. More seriously, it gives me the

opportunity to show that a person with a disability

22


People

is capable of achieving whatever they set out to do.

For example, a former neighbour of mine had a

disabled son who was kept indoors and not really

allowed to do anything. One day the mom came and

told me she was so grateful for my attitude because

it had made her realise she did not need to hide her

boy from the world or be so overprotective, and he

was so much happier now that he could go outside.

My wheelchair has to be charged every day for

about eight hours. Every morning I use it to go with

my daughter to school and fetch her again every

afternoon.

People with disabilities are the same as everyone

else and should not be treated any differently. Yes,

some may need assistance or accommodation,

especially in the workplace, but once that is taken

care of we are more than capable of performing like

anyone else, or even better because we feel that we

have to prove ourselves.

My advice to other disabled people is to concentrate

on things that your disability doesn't prevent you

from doing well, and don't regret the things it

interferes with.

Wheelchair Bound

By Bernadette Francois

I was conversing with someone the other day about

a friend who is on maternity leave, the official term

for which is “confinement”. This got me thinking

about the way users of wheelchairs are sometimes

described as “wheelchair bound” or “confined to a

wheelchair”.

On the contrary, my wheelchair is an assistive

device. It does NOT define me in a limiting way.

There is no difference between what I am capable

of doing and what you are capable of doing except

that I can do it from the comfort of my wheelchair,

wearing killer heels, while others walk around complaining

about their sore feet! I can still cook, sing,

dance, swim, exercise, study, work, be a wife, be a

mom, be a friend. I am differently abled, NOT wheelchair

“bound”.

Such terms are very misleading. No wonder people

feel so sorry or “inspired” by people who use

wheelchairs. They think that it must be so HARD for

a wheelchair user to achieve anything.

10 RIGHTS VIOLATIONS

OF SA’S CHILDREN

WITH DISABILITIES

1. EDUCATION

The denial of the right to an education and an

equitable education.

2. ASSISTIVE DEVICES

The denial of the right to assistive devices.

3. EARLY CHILDHOOD DEVELOPMENT

The denial of the right to quality and equitable

ECD services.

4. MARGINALISATION

Their general marginalisation and exclusion from

mainstream society.

5. PROTECTION

Society’s failure to protect them from abuse,

neglect and exploitation.

6. EXCLUSION

Their exclusion from play, recreational, social and

cultural activities.

7. HEALTH and REHABILITATION

The denial of their right to quality and equitable

health and rehabilitative services.

8. JUSTICE

The denial of their right to access justice as the

victims of crime.

9. CULTURAL SUPERSTITIONS

Their alienation, exclusion and stigmatisation

because of cultural superstitions.

10. POVERTY

The denial of their right to be free from poverty.

Next time you want to say “wheelchair bound”, try

to think of a more positive way to describe the

situation. Try not to be confined or bound by your

words!

Good luck!

NCPD Disability Rights Violations DL Flyers March 2018.indd 1 2018/03/1

23


Research

Published: 21/02/2018

A recent preclinical study has

identified a potential therapeutic

target for Charcot Marie Tooth disease

(CMT). Although this research is in

relatively early stages, it could help to

develop a new treatment.

Our nerve cells communicate with

other cells by sending electrical signals

down their long, thin axons. Within

the axons are rod-like structures called

microtubules, which act a bit like train

tracks. They help to transport cargo,

such as proteins, mitochondria and

vesicles, up and down the nerve cell.

This process of axonal transport is

disrupted in several neurodegenerative

conditions, including some types of

CMT.

The following four articles are from the website of Muscular Dystrophy UK.

Early-stage research identifies potential treatment for CMT

The microtubules in the axon can be

modified by a number of proteins,

which can impact how well they

transport their cargoes. One of these

proteins, an enzyme called histone

deacetylase 6 (HDAC6), has been

shown to modify microtubules, leading

to impaired axonal transport.

Researchers in the lab of Prof Ludo

Van Den Bosch, KU Leuven, previously

found that inhibiting these negative

effects of HDAC6 improved axonal

transport in a mouse model of CMT2F.

In this new study, they investigated

whether this could also be beneficial to

a mouse model of CMT2D.

The researchers treated the CMT2D

mice with an HDAC6 inhibitor called

tubastatin A. They found that this stabilised

the microtubules and improved

axonal transport. This improved nerve

By Jenny Sharpe

health, resulting in greater muscle

function in the mice.

Lead author of the study, Dr Veronick

Benoy, said in a press release:

“These results suggest that disturbed

acetylation of α-tubulin may be a common

hallmark of different forms of

CMT. Moreover, we found a cellular

link between HDAC6 and the diseaseassociated

protein, indicating that

HDAC6 could be linked to CMT disease

pathogenesis and that selective inhibition

of HDAC6 with a drug could

be a beneficial treatment strategy for a

wide variety of CMT patients.”

This study was published in the

scientific journal, Brain.

Article online at: http://www.musculardystrophyuk.org/news/news/earlystage-research-identifies-potentialtreatment-for-cmt/

Orphazyme sponsors IBM trial at University College London

By Jenny Sharpe

Published: 25/01/2018

Danish biotech company, Orphazyme,

has assumed sponsorship of a phase 2/3

trial assessing the safety and efficacy of

arimoclomal for the treatment of sporadic

inclusion body myositis (sIBM).

The trial has sites at the University of

Kansas Medical Center, USA, and the

Institute of Neurology at University

College London (UCL). The UCL site

is expected to begin recruitment soon;

we will let you know when this starts.

24

MDUK’s Chair, Professor Mike Hanna,

is the principal investigator at the UCL

trial site. He said in a press release:

“Arimoclomol has strong potential

benefit in patients with this disabling

disease. We made the case quite strongly

that arimoclomol should be properly

tested in a large trial, and it is most

exciting that we have now started the

next step in the clinical development.”

The exact cause of sIBM is not fully

understood. Some research suggests

that it is partly caused by certain

proteins being folded incorrectly.

These misfolded proteins accumulate

in clumps inside the muscle, causing

inflammation and muscle damage.

Arimoclomal is an experimental drug

that enhances the cells’ ability to

re-fold proteins. This could help to clear

the toxic clumps in muscles affected by

sIBM. You can read more about arimoclomal

on Orphazyme’s website.

Article online at: http://www.musculardystrophyuk.org/news/news/orphazyme-sponsors-ibm-trial-at-universitycollege-london/


Research

Acceleron announce preliminary results from FSHD trial

By Jenny Sharpe

Published: 31/01/2018

Acceleron Pharmaceuticals has

announced preliminary results from its

phase 2 trial testing ACE-083 in adults

with facioscapulohumeral muscular

dystrophy (FSHD).

ACE-083 is a drug that inhibits a

family of proteins that negatively

regulate muscle growth (including

myostatin). This approach aims to

build muscle mass and improve muscle

strength.

The trial is split into two parts:

• Part 1 is a dose-escalation study.

This was designed to identify the

highest and safest dose of ACE-083

in adults with FSHD. Participants

were divided into three dose groups

(150mg, 200mg, 250mg), and received

injections of ACE-083 into

either the upper leg (tibialis anterior

muscle), or the upper arm (biceps

brachii muscle).

• Part 2 is a randomised, double-blind,

placebo-controlled study. This will

start once Part 1 is complete. The

best dose from Part 1 will be tested

in Part 2.

Acceleron has released data from the

150mg and 200mg dose groups in Part

1. Overall the drug was well tolerated

and no serious adverse events occurred.

Magnetic Resonance Imaging (MRI)

was used to quantify the volume of

the targeted upper leg or upper arm

muscle. This was carried out before

treatment (the baseline) and three

weeks after the last injection of ACE-

083.

The results showed that ACE-083

increased the volume of the upper

leg by an average of 12.6%, and the

upper arm by an average of 13.2%.

The amount of fat in the leg and arm

muscles also decreased.

While these results are promising, they

are based on a small number of patients

(23 in total) and there was no placebo

to compare against. We also don’t yet

know what effect ACE-083 has on

muscle strength and function. This will

be investigated in Part 2 of the study,

which is due to start in the second

quarter of 2018.

Dr Matthew Sherman, Chief Medical

Officer of Acceleron, said:

“These data support our decision to

advance to Part 2 of the Phase 2 trial,

which we expect to initiate in the

second quarter of this year. We look

forward to fully exploring functional

outcomes in the larger, placebo-controlled

Part 2 of the trial.”

Article online at: http://www.musculardystrophyuk.org/news/news/acceleron-announce-preliminary-resultsfrom-fshd-trial/

Genome editing corrects mutation in new Duchenne mouse model

By Betty Kao, Royal Holloway University

Published: 23/01/2018

US scientists have created a new

mouse model of Duchenne muscular

dystrophy (DMD) and treated it with

an improved genome editing technique.

This corrected the dystrophin gene and

protected the muscles from damage.

While the results of this preclinical

study are promising, more research is

needed before genome editing can be

tested in people with Duchenne muscular

dystrophy.

The new mouse model has a deletion

of exon 50, which is one of the most

common mutations causing DMD.

This makes it an important tool for

future DMD research. Previously, most

studies have used the mdx mouse

model, which has a different and less

common mutation.

The exon 50 deletion puts the dystrophin

gene “out of frame”. This means

that exon 49 can’t join up with exon 51,

as the ends of these two exons don’t fit

together (see below). This leads to an

incomplete, faulty dystrophin protein.

To put the gene back ‘in frame’,

Professor Eric Olsen and his team at

the Wellstone Muscular Dystrophy

Research Centre, Texas, designed a

CRISPR/Cas9 tool to make a single cut

near exon 51. This was packaged into

an adeno-associated virus (AAV) and

injected into the bloodstream of very

young mice with the exon 50 deletion.

The CRISPR treatment corrected

the dystrophin gene and increased

dystrophin production in the heart and

muscles of the mice. Different tests

showed that the muscles were healthy

and muscle strength was improved.

This demonstrates that treatment in

very early stages of the condition can

protect the muscles from damage.

When the researchers analysed the

dystrophin gene of the CRISPR-treated

mice, they found that it had been put

in frame by two different mechanisms.

One of these involved exon skipping,

where exon 51 was ‘skipped’ (you can

read more about exon skipping in our

factsheet). This resulted in a dystrophin

protein missing exons 50 and 51.

The other mechanism involved the

insertion of a particular DNA letter

(called adenosine) next to exon 51.

This allowed exon 51 to join up with

exon 49, resulting in a dystrophin

protein missing only exon 50.

No off-target effects were found,

which suggests that the Cas9

scissors were cutting the DNA in the

right place. However further research

is still needed to confirm the long-term

safety of CRISPR/Cas9 and how long

its therapeutic effect might last.

Prof Olson is the founder of Exonics

Therapeutics, which aims to develop

CRISPR/Cas9 for commercialisation.

Article online at: http://www.musculardystrophyuk.org/news/news/genomeediting-corrects-mutation-in-newduchenne-mouse-model/

25


BARRIERS AND CHALLENGES

All people, even people with disabilities, must be able

to fully participate in community life. Even though it

has much improved, people with disabilities still face

challenges when they are out and about.

Attitudinal challenges – stereotyping of people with

disabilities (e.g. Talk slowly and loudly to a person

using a wheelchair)

Physical challenges – stairs and high curbs blocks a

person with a physical disability from entering a

building


Policy challenges – work environments are not

modified to enable disabled persons to do the job they

are hired for

Social challenges – children with disabilities are

less likely to have completed mainstream schooling

compared to peers without disabilities

Transportation challenges – public

transportation may be unavailable or

at inconvenient locations


We all have those light-bulb

moments, instants when everything

becomes perfectly clear and understandable.

They are represented really

well in animated cartoons where the

on-screen character sports a most confused

look on their face, followed by the

proverbial light bulb illuminating above

their head, followed shortly thereafter

by a look which says that the proverbial

penny has dropped, everything

has fallen into place and they fully

understand what has just taken place.

I love light-bulb moments, but sadly

they are all too scarce in the wheelchair

accessibility world. I would like to see

more of them occurring, particularly in

the design offices of architects, property

developers, interior designers and

construction site managers.

We live in an era when access for the

disabled should not be an issue, yet it

continues to be so. This is largely due

to people not having an understanding

of the problem or of how to go

about rectifying it. We have people

designing and constructing buildings and

infrastructure believing that they

know what is required for disabled

access, yet the reality is that they do not

understand the nature of the problem in

the first place. Just recently I had reason

to look for accommodation in one

of our most popular East Coast seaside

resorts. I visited three self-catering

developments, all claiming to be wheelchair

accessible and all exhibiting

wheelchair access signage, yet not one

was accessible to anyone permanently

disabled.

When this anomaly was pointed out

to the owners there was no light-bulb

JUST SIT DOWN

moment. Nothing lit up. No pennies

fell into place. One owner believed

that making the front door accessible

qualified the place as disabled

friendly, whilst another had obviously

purchased a "bathroom kit" of grab rails

believing that merely bolting them

to the wall transformed the bathroom

magically into an accessible unit. They

simply did not understand what was

required. Perhaps, more disturbingly,

they were not particularly interested in

learning what was really needed. They

felt they had made an effort, and that

was enough. The reality was that the

only disabled people who could use

their accommodation would be those

who could stand and walk (albeit just

one or two steps).

Every once in a while, however, there

is a glimmer of hope. I shared in a

light-bulb moment a couple of weeks

ago. I was sitting in a supposedly

wheelchair accessible bathroom

detailing various aspects which made it

a non-wheelchair accessible bathroom.

Items such as the very decorative

designer hand basin (you know, those

currently trendy rectangular wash

trough designs), and the wall mirror

mounted at a height of more than 1.5

metres above the ground, and the hand

shower unit that was at the opposite

end of the shower to the water taps. I

was trying to describe to the gentleman

involved how inaccessible these

items were but could see that he did not

understand the issues from his

standing height of 2 metres. I then

gestured towards the plastic garden

chair which I had retrieved from the

exterior patio to use in the shower that

morning, and I asked him to "just sit

down" for a moment.

In that moment everything fell into

place. The bulb went on. The penny

dropped. I could literally see that look

on his face the moment he understood.

Suddenly the designer hand basin was

at the same level as his chin, and if he'd

wished to wash his hands he needed

to come up with some interesting arm

contortions in order to get his elbows

over the rim and hands into the basin.

Suddenly that easily visible wall mirror

was way above his head and completely

out of view. Equally the hand shower

unit and the water taps were so far apart

that when he sat on a chair he could

access one but not the other.

In fairness to the gentleman involved,

the experience must have had a

profound impact, because when we met

again over a cup of coffee the following

morning the first thing he said to me

was "just sit down"! And in an e-mail to

me a couple of weeks later he referred

to the "just sit down" moment.

It is encounters such as these which

give me hope. Hope that there are

people who have the capacity to grasp

the moment and realise what they

have been missing all along. Hope that

we might be able to reach architects,

property developers, interior designers

and construction site managers. I

feel it is important to reaffirm those

professions because they play a key role

in our inclusion in the broader society.

I would argue that they are perhaps the

most important professions impacting

on our lives, more so than the medical,

health care and technology industries.

Without an accessible environment we

go nowhere.

28


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 Friedreich’s ataxia ?

Friedreich’s ataxia (FRDA) is a disease that typically starts before the age of 25 years, but

usually between the ages of 10 and 15 years. The earliest symptoms are loss of co-ordination

with difficulty walking. Patients often notice the development of a very high foot arch. People

with FRDA also develop slurred speech, muscle weakness and visual and hearing difficulties. The weakness often results in severe

curvature of the spine (scoliosis). About two-thirds of affected individuals develop a cardiac muscle problem, termed cardiomyopathy, and about a

quarter develop diabetes.

FRDA is a genetic condition inherited in what is termed an autosomal recessive fashion. This means that an individual with FRDA has two faulty genes,

one inherited from each parent. Their parents are unaffected as they have one faulty and one normal gene, and are so-called ‘carriers’. When parents

are both carriers, each of their children has a ¼ or 25% chance of having FRDA.

The majority of FRDA patients have exactly the same genetic fault – an abnormal repeat expansion in the gene. It is thus relatively straightforward to

confirm the diagnosis.

Although there is no cure for FRDA, there are many ways to assist people living with FRDA. It is important to try to maintain mobility as long as

possible, and to prevent deformities developing with occupational therapy and physiotherapy. Scoliosis should be aggressively treated, especially as

severe scoliosis can impact on heart function. Cardiomyopathy and diabetes can be managed by appropriate specialists. Hearing and visual aids are

also available, if required.

Many therapies for FRDA are under investigation. Many are directed at trying to improve mitochondrial function, as this is severely disturbed in

FRDA. Others are trying to replace the missing protein. There have been some promising results of early trials.

Why is progress so slow on finding a cure for muscular dystrophy?

This is a question people with muscular dystrophy ask frequently. There are many reasons for this. Firstly, there are hundreds of different muscular

dystrophies, each with different characteristics and probably each requiring its own therapy. It is hoped, however, that once significant breakthroughs

are made with one type of muscular dystrophy, developments for other conditions will be achieved more quickly.

Doctor’s

In most muscular dystrophies the muscle structure has been abnormal since conception. Thus, by the time an individual presents with the disease it is

already longstanding, and significant damage or loss of cells has occurred. In addition, it is very hard to build muscle cells after we are born, so any

therapy has to be able to reach all our muscle cells and repair the damaged ones. It is unlikely that we could replace the damaged cells with new ones as

they form very complex structures. Muscle cells are not easy to reach, and each muscle cell would need to be reached separately. This is rather different

from a protein that is deficient in our blood, for example, where the tissue is accessible and the protein does not need to integrate into cell structure but

rather is in solution.

There have been some very important recent advances in therapies for muscular dystrophies.

Although these are not cures, clinical trials have demonstrably slowed disease progression.

Some of these have managed to partially correct the DNA message so that muscle cells

which previously produced only abnormal protein now produce some functional protein.

Many new developments in molecular biology offer a lot of promise regarding genetic

diseases. We can only hope that this promise will be fulfilled sooner rather than later.

29


Sandra’s thoughts on…

......Uncertainties in life

By Sandra Bredell (MSW)

Why do we not notice the good and certainty around

us when everything is going well? Why is it that we

feel paralysed by uncertainty or, put differently, by

insufficient certainty?

Certainty in life does not equal the amount of security

you have in place to protect you and your family. In fact,

nothing is equal to certainty in life, because we cannot

control what happens to us. Life is uncertain and that is

a fact. Changes are bound to happen in our life.

The only way that we can answer the above questions

is to understand where uncertainty stems from. When

we are faced with changes, we feel uncertain about

things in our life and we tend to feel we are “losing

control” over a situation. We start to feel anxious and

panicky because we fear the unknown. This takes us

back to Franklin D. Roosevelt’s famous statement that

the only thing to fear is fear itself (cited by Wallace,

2009).

So now we start to see the pattern: changes –

uncertainty – loss of control – challenges – anxiousness

and panicking – fear. Then we start to fear the

times when changes will happen, and the whole

process starts all over again. Some will refer to this

as a vicious circle, but others will be able to see the

opportunity to tap into their potential, creativity and

strength. Uncertainty is scary, but it is not all bad.

By mastering the fears that go with it, you can turn

uncertainty into a great opportunity for growth. You

might also find it interesting to read Lane Wallace’s

book, Surviving Uncertainty: Taking a Hero’s Journey

(cf. Wallace, ©2010–2015).

Let’s take the water crisis as an example. We could

dwell on all the things that may happen when we

reach Day Zero and how the country would struggle to

recover after that. Instead, we should focus our thoughts

and energy on what we can do daily, weekly and

monthly to avoid Day Zero. This way, we start to feel

more in control, although the uncertainty still exists.

Using the “Maybe” concept or approach can help

us realise that “every situation has multiple possible

outcomes” and therefore that “Maybe something else

could happen” (Carmen, 2017). This can change the

way we think and, by helping us stay in the present

moment, can put us back in the driver’s seat, so to speak.

Maybe this way of looking at situations in life can ease

some of the fears and stresses you face in your own life.

Till next time, stay in the present, focus on what you can

control, keep your faith and take care!

References

Carmen, A. 2017. A survival guide for uncertain times

#3: Positive thinking? Blog, February 10. Psychology

Today. http://www.psychologytoday.com/blog/the-giftmaybe/201702/survival-guide-uncertain-times-3-positive-thinking

Wallace, L. 2009. Surviving uncertainty – a few tips.

The Atlantic, May 22. https://www.theatlantic.com/

national/archive/2009/05/surviving-uncertainty-a-fewtips/18044/

Wallace, L. ©2010–2015. Surviving uncertainty. Lane

Wallace: Writer, Speaker, Consultant. http://www.

lanewallace.com/books/surviving-uncertainty/

30


Cape Branch

Craft Day

On 21 and 28 February 2018 we hosted craft

days for the children with muscular dystrophy.

The children got to build wooden sculptures of

dinosaurs, automobiles, motorbikes and the

Statue of Liberty. We got our creative juices

flowing and had lovely lunches from Spur and KFC.

Special thanks to Mandy and Cameron for all their

help crafting with the children, and for providing

wonderful snack goodie bags for them to take

home.

31


Cape Branch

Crossbow Marketing

Consultants Visit

Since 1988 Crossbow Marketing Consultants

(Pty) Ltd has been assisting us to raise funds

by designing, manufacturing, marketing and

selling various products for and on behalf of

the MDF. The income generated by them

allows us to work towards the goals of our

organisation. We truly see this partnership as

essential to our survival.

As a token of appreciation, we took cupcakes

on Valentine’s day to the Steenberg and

Milnerton office of Crossbow to thank all staff

for their hard work and dedication.

Pictured right: Lee Leith, showing

appreciation from MDF Cape branch.

Buckets of Love

The Catholic Association has a 20-year history of supplying meals to those in need over the December period.

The children with muscular dystrophy received these beautiful “Buckets of Love” to share with their families

over the festive season.

We would like to thank the Catholic Association for their support.

32


Cape Branch

Valentines Social

This year our adult support group got together to

celebrate the month of love. Thank you to everyone

who joined this lovely social gathering. It was lovely to

share stories about the festive season and celebrate

the new year with you over a cup of coffee. It was with

this lovely gathering that our 2018 Adult Support Group

programme was launched.

Pictured: Sanjay Narshi

Fun at the

Iziko Museum

To end 2017 off with a bang we celebrated

with the Duchenne boys by taking them

to the Iziko Museum in Cape Town. The

morning was filled exploring the fantastic

and awe-inspiring exhibitions of skeletal

remains of a number of different animals,

even including dinosaurs! We were spoilt

with goodie bags from Gift of the Givers,

and each child got to take one home with

them when the day was done.

Members who passed away

It is with great sadness that we bid farewell to Mr Shaun Joon. Our sincere condolences to his family.

We will dearly miss this beautifully determined and kind gentleman, who led by shining example on how

to persevere through difficult circumstances in a kind-hearted manner.

It’s always too soon to say goodbye. It is with very heavy hearts that we say goodbye to Mr Craig

Thomson. Our sincere condolences to his family. We loved to see his gentle smile at our Adult Support

Group outings. All our love and wishes to Craig’s parents, James and Merle.

Our deepest condolences to the Burton family on the passing of their son, Mogamat Noor. Noor’s

gentle patience and warm smile will always be remembered. Your family is in our thoughts.

33


Gauteng Branch

Muscle Riders

appreciation function

By Robert Scott

The annual Muscle Riders appreciation function was

held on Saturday, 18 November 2017 at Crawford

College Lonehill.

The day saw the Muscle Riders from far and wide

converge to meet one another, collect their race packs

and of course the famous Muscle Riders cycle jersey.

Thank you to each and every person who

supported the 2017 cause and all the cyclists who chose

to join the Muscle Riders Team.

Thank you to Jason Greer, the official MDF Gauteng ambassador, who was master of ceremonies for the

day, and Dee-Ann Kaaijk from Strike A Pose photography, who agreed to capture the event with some

incredible photographs.

Thank you to the children who took part in the annual

Kiddies Ride on Saturday, 11 November. They also raised

funds for children in need of motorised wheelchairs and had

amazing fun doing it.

The little heroes were Cayden Fourie (aged 5), Ava Rudman

(5), Quintin Fouche (5), Juanru Roodt (4), Beth Van Til (3)

and Dante Fourie (2).

Thank you to our generous sponsors: Mitsubishi Electric,

Spoormaker & Partners, Cool Tech (Pty) Ltd, Eskort Ltd

Princess Crossing, Tru Juice (Pty) Ltd, Paarman Foods,

CE Mobility, John Leamy Insurance, SuperSpar Florida

Junction, and Hollywood Costumes.

Lastly, thank you to Crawford College Lonehill and all the

volunteers who helped make the day an amazing success!

34


Gauteng Branch

Blue Bottle Group

MDF Gauteng wishes to express our deep gratitude

and thanks to the Blue Bottle Group.

As part of the Telkom 947 cycle challenge, their

cycle team wore the Muscle Riders logo on their

team kit.

On Monday, 15 January 2018 Pieter Joubert and

Robert Scott received the donation of R25,014 and

there were smiles all around. Thank you Blue Bottle

for your continued support and kindness towards

the Foundation. It means the world to all of us.

Pictured: From left to right, Robert Scott,

Pieter Joubert and Jose Nascimento

Annual WCCS UJ Golf Day

On 8 March 2018 the Annual WCCS UJ Golf Day was held at Jackal

Creek Golf Course. Funds raised will be used to host the annual

World Congress of Chiropractic Students in Sandton. We will receive

a percentage of profit from the chiropractic golf day. We would like

to thank Chase Batty and other students from the University of

Johannesburg for all their hard work with the golf day. This is the

seventh year that we are a beneficiary of fundraising and wish to

thank the WCCS UJ Chapter for caring and their continued support.

Pictured: Ashley Kupfer, Devlin Randal-Smith

& Micah Kupfer

Pictured: Chase Batty, Robert Scott

& Ami-Lee Verwey

35


Gauteng Branch

Tshepo Mahlosi, a

very happy boy

Tshepo Mahlosi, who is 12 years

old and affected with Duchenne

muscular dystrophy, received

his new motorised wheelchair on

Sunday, 11 February 2018. The

Muscle Riders were proud to see

all the hard work pay off, and

Tshepo is looking forward to many

happy years with his newfound

independence.

Thank You!

My name is Mzwandile du Plessis, from Katlehong. I

would like to thank the Muscular Dystrophy Foundation

Gauteng for the new motorised wheelchair. I am very happy

and wish to thank them for assisting me.

Yours sincerely

Mzwandile du Plessis

36

Clara Moloi says thank you

Muscular dystrophy is a very difficult disease to live with, especially when we keep growing up and it keeps

getting worse. I was born with the type of muscular dystrophy called myotubular myopathy. I’m now in my

mid-thirties and the progression of the disease worsens by the day.

I have short breath and I can’t digest food well due to the deformation of the spine.

Having the Muscular Dystrophy Foundation is a blessing from God. I asked for a cushion from the Foundation

and they referred me to CE Mobility to be assessed for the correct one. The occupational therapist there by

the name of Kat realised that my sitting position was one of the causes of my deformation, and she decided

that we should try a new backrest that has support on the sides to help me to sit up straight and that will

assist with breathing and digesting. The MDF helped with the purchase of the backrest and now I’m sitting up

straight, a little better than with the normal backrest, and I’m able to burp without being assisted (like a baby).

Even though I’m not used to sitting straight and it’s painful, I believe that I won’t be using my nebuliser for a

while. Thank you very much MDF Gauteng Branch.

Yours sincerely

Clara Moloi


Gauteng Branch

Make Today Count

Tandem Skydiving 2018

Adventure Skydives in Deneysville offers skydiving

with a difference – the fast speed at which you rush

towards the ground due to the thin air in the

Highveld. In the tandem jump, after a quick briefing,

you are good to go, attached to an instructor with a

special harness for two.

A tandem jump will cost you R2,600 and you will also receive a DVD that contains a video and photos taken of

your jump.

Date : Saturday, 18 August 2018 and Sunday, 19 August 2018

Where : Leeukop Farm Airfield, Deneysville (on the Vaal)

Bookings can be made through Robert Scott via email: mdfgauteng@mdsa.org.za

Muscular Dystrophy Workshop

The Muscular Dystrophy Foundation Gauteng is pleased to announce that we will be hosting a

workshop about caring for persons with muscular dystrophy, the handling of them, stretching exercises by a

physiotherapist, and the importance of education by an educational psychologist.

Parents of children and persons affected with any type of muscular dystrophy are encouraged to attend.

Speakers: Mrs Kerrie Austin (Physiotherapist), Mrs Antoinette Human (Psychologist - Education)

The workshop will be conducted, free of charge, on Saturday, 1 September 2018 (venue will be confirmed).

To make a booking, please contact MDF Gauteng before Friday, 17 August by phone on 011 472-9824

or by e-mail at mdfgauteng@mdsa.org.za.

Muscle Riders 2018

(Ride For A Purpose – ride for those who can’t)

This is the seventh year that we will be participating in the Telkom 947

Cycle Challenge. The cycle challenge will take place on Sunday,

18 November 2018 at Riversands Commercial Park. Our Muscle

Riders are a group of cyclists who care for people affected with muscular

dystrophy and want to make a difference in the lives of those less fortunate than

they are.

Please ask family and friends who cycle to ride for us. We would like to get more riders who can help generate

awareness and much-needed funds. We rely on the support of individuals and companies to support us so that

we can give our members the assistance they need. We wish to thank everyone who rode for us last year and

is supporting us again this year.

Website: www.muscleriders.co.za

Facebook page: www.facebook.com/mdfgautengcycle

Should you be interested in riding for us or helping us to make this event a success, please let us know so that

we can provide you with further information.

37


KZN Branch

Updating of information

for Muscular Dystrophy

Foundation KZN Branch

Dear Members

In order to ensure that the Muscular Dystrophy

Foundation database contains updated and

accurate information, we request that you

notify the KZN Branch immediately of any

changes to information provided, by contacting

the KZN Branch directly, either by phone (031

332 0211) or by email (accountskzn@mdsa.

org.za), so that your information can be

updated accordingly.

Thank you in advance for your assistance and

support.

9 DISABILITY

RIGHTS VIOLATIONS

1. EXCLUSION FROM EMPLOYMENT

Widespread discrimination means that 7.5% of South

Africans who have a disability do not participate in

the economy.

2. INEQUALITIES IN EDUCATION

Unequal education opportunities condemn 1000s of

persons with disabilities to poverty and deprivation.

3. DENIAL OF REASONABLE ACCOMMODATION

Equitable measures to support the participation of

persons with disabilities in society on an equal basis

with non-disable people are ignored.

4. INACCESSIBILITY

Accommodation, buildings, services, information

programmes, communication remain inaccessible.

5. NON-PROVISION OF ASSISTIVE DEVICES

Assistive devices are essential for living ans accessing

fundamental rights and freedoms including the right to

communication, mobility, education.

6. MARGINILISATION BY SOCIETY

Attitudinal barriers in society disable persons

with impairments.

The Muscular Dystrophy Foundation

of SA would like to thank the National

Lotteries Commission for their support.

7. STIGMA IN CULTURAL BELIEFS

Disability is seen as a curse in some cultures and the

related stigma forces families to hide their relative with

a disability.

8. PREVALENCE OF DISABLISM

Prejudices towards, and stereotype about, disability

and persons with disabilities are prevalent in society

which results in disability discrimination.

9. INACCESSIBILITY TO JUSTICE SYSTEMS

Persons with disabilities are more vulnerable to

neglect, abuse, and exploitation and are unable to

access justice due to disablism.

NCPD Disability Rights Violations DL Flyers March 2018.indd 2 2018/03/14 8:37:

38


Stockists of all the leading import power brands


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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