MDF Magazine Newsletter Issue 56 August 2018

Spring Issue 56 

August 2018 

R25.00 incl. VAT 

An athlete with 

heart 

The MDF has 

my attention! 

Living life 

to the full 

My journey from powerless to powerful

0860 23 66 24 . www.cemobility.co.za 

Stockists of all 

these premium 

power brands 

A strong woman looks 

a challenge dead in the 

eye and gives it 

a wink 

Proudly Celebrating Women’s Month 

Roodepoort, Rivonia, Pretoria, Cape Town, Durban, Port Elizabeth, George & Bloemfontein

DF 

Magazine 

05 MDF notice board 

06 National news 

07 MD information 

11 Disability information 

MD INFORMATION 

07 4 Approaches to treating Duchenne muscular dystrophy 

09 How to talk to your child about their neuromuscular 

disorder 

10 Facioscapulohumeral muscular dystrophy 

15 SMA treatment could soon be accessible in South Africa 

Events 

18 The 2018 Muscular Dystrophy Johannesburg to Cape 

Town Cycle Tour 

19 An athlete with heart 

People 

21 Everyone made me feel so welcome”: Sam Tisbury on 

volunteering for MDUK 

23 Living life to the full 

24 My story Jason Howieson 

25 The MDF has my attention! 

26 My journey from powerless to powerful 

Regular Features 

30 The View from Down Here 

31 Doctor’s corner 

32 Sandra’s thoughts on … 

Research 

28 Update on Myonexus’ LGMD gene therapies 

28 Positive interim results from Duchenne gene therapy 

trial 

29 Latest results from MTM gene therapy trial 

29 Sarepta and Myonexus form partnership 

29 FSHD drug receives fast track designation 

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 Kerrie Walsh by Dee-Ann Kaaijk 

Future Issues: 

December 2018 

(Deadline: 26 October 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 

One of the worst things that can happen to a person is to be deliberately or 

unconsciously excluded from conversations or even cut off during them. In our 

society, where people prefer to stay comfortably in their familiar life, this happens 

easily and regularly. 

Disabled people know this pain of exclusion. They know how uncomfortable 

others can be in their company, not knowing how to talk to them or what to say, 

and perhaps even feeling that dealing with disabled people disrupts their own 

comfortable living patterns and assumptions. Therefore they rather pass them 

by, ignore and exclude them. 

Instead of judging someone in a wheelchair, they should get to know them and 

realise they are not so different and also enjoy the company of others and can 

broaden others’ perspectives. 

A lot can be learnt for example from people affected with muscular dystrophy. They know how to fight the battle 

and how to treat others when faced with a challenge beyond their control. Even with all the stresses and hardships 

they experience daily, they still smile and seldom complain. 

Doctors are searching for a cure, conducting stem cell research, and experimenting with growth hormone 

treatments, and we trust that they are on the right track. There is a lot that we, too, can do. Let us all try to make 

lives of those around us easier and the future healthier and brighter, especially for children. 

In this issue you will read of personal stories and awareness events. As usual you will also find MD information 

and research articles. Please share your stories and let us know what you would like to read about in the 

magazine. 

Thank you to everybody who wants to make a difference in the lives of people with muscle-wasting conditions. 

We appreciate that you care and are grateful for your support. 

Regards 

Pieter Joubert 

4 

September is muscular dystrophy 

awareness month in South Africa 

SOMEONE I LOVE 

Needs A Cure 

Please support 

MUSCULAR DYSTROPHY AWARENESS & RESEARCH

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 


account no. 1958323284 


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 


account no. 1069431362 


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 

Duchenne MD 

Cape 

Win van der Berg (Support Group) 

Tel: 021 557-1423 

KZN 

Maxine Strydom (Support Group) 

Tel: 031 762-1592 

Cell: 083 290 6695 

Gauteng 

Jan Ferreira (Support Group – Pretoria) 

Cell: 084 702 5290 

Estelle Fichardt 

Tel: 012 667-6806 

Christine Winslow 

Cell: 082 608 4820 

Charcot Marie Tooth (CMT) 

Hettie Woehler 

Cell: 079 885 2512 

E-mail: hettie.woehler@gmail.com 

Facioscapulohumeral (FSHD) 

Francois Honiball 

Tel: 012 664-3651 

Barry Snow 

Cell: 083 66 66 270 

E-mail: barry.snow@worleyparsons. 

com 

Friedreich Ataxia (FA) 

Linda Pryke 

Cell no: 084 405 1169 

Nemaline Myopathy 

Adri Haxton 

Tel: 011 802-7985 

Spinal Muscular Atrophy (SMA) 

Zeta Starograd 

Tel: 011 640-1531 

Lucie Swanepoel 

Tel: 017 683-0287 

Spinal Muscular Atrophy (Adult 

SMA) 

Justus Scheffer 

Tel: 012 331-3061 

E-mail: justusscheffer@gmail.com 

5

National 

For many years Casual Day has been a steady favourite 

on the calendar of many of South Africa’s businesses, 

with some corporates sponsoring stickers for their 

entire staff complement as a corporate social investment 

initiative. Approximately 4 500 companies, 100 schools 

and 400 organisations rendering services to persons 

with disabilities are participating. This year Casual Day 

takes place on Friday, 7 September 2018. The theme for 

this year is “Be an everyday hero”. 

Casual Day is one of the fundraising events that we participate in every 

year in order to raise funds for our cause. We appeal for your kind 

participation in this fundraising event by purchasing as many 

Casual Day stickers as you can. They cost R10 each, of which 

MDF will receive R4 per sticker. You can purchase stickers at 

your nearest branch. 

• National Office – Tel. 011 472-9706 

• Gauteng Branch – Tel. 011 472-9824 

• KwaZulu-Natal Branch – Tel. 031 332-0211 

• Cape Branch – Tel. 021 592-7306 

We hope you will be able to assist us, as your participation 

will go a long way towards making a difference in the lives 

of our members. 

My School Card 

MySchool is South Africa’s biggest community-based 

fundraising programme and raises over R4 million 

every month for schools, charities and animal welfare 

organisations. 

Every time you swipe your MySchool card at any 

of the partner stores they make a donation on 

your behalf to the beneficiary of your choice. 

Please ask friends and family members to sign up for 

a MySchool card and make the Muscular Dystrophy 

Foundation of South Africa your chosen beneficiary, 

which means the MDF would receive a percentage of 

the purchase value whenever the card is used. 

Some of the participating stores are Woolworths, Engen and Flight Centre. 

Sign up at www.myschool.co.za 

6

MD 

The following two articles were originally published on the website “Muscular Dystrophy News Today” 

by BioNews Services, Dallas. 

4 Approaches to Treating Duchenne Muscular 

Dystrophy Highlighted at PPMD Conference 

Muscular Dystrophy News, 6 July 2018 

Discussions of the work being done on four different 

approaches to treating Duchenne muscular dystrophy (DMD) 

– repairing or replacing dystrophin, managing inflammation, 

improving muscle mechanics, and editing dysfunctional 

genes using CRISPR/CAS9 – were a highlight of sessions 

at the recent 2018 Parent Project Muscular Dystrophy 

(PPMD) conference in Scottsdale, Arizona. 

Patients, parents, doctors, researchers, and industry 

executives gathered at the conference to share news and listen 

to sessions, including four led by pharmaceutical and biotech 

companies reporting results of preclinical and clinical work 

on each of these four potential treatment methods for DMD. 

Restoring or Replacing Dystrophin 

Representatives from five companies working to develop 

treatments that restore or replace dystrophin, a protein that 

normally supports skeletal and cardiac muscle function but 

is dysfunctional in DMD patients, presented data from recent 

trials. 

NS Pharma shared results from Phase 1/2 and Phase 2 

(NCT02740972) studies of NS-065/NCNP-01, conducted 

in North America and Japan. The investigational therapy, 

which is designed to encourage cells to skip over a mutation 

in exon 53, seemed to allow patients to naturally develop a 

smaller, but somewhat functional, form of dystrophin. The 

randomized, placebo-controlled studies showed some evidence 

of a dose-dependent increase in the formation of the protein. 

An open-label Phase 2 extension study (NCT03167255) is 

continuing to evaluate the therapy’s safety and potential 

effectiveness in 19 boys with DMD. All are being treated 

with a once-weekly intravenous injection of NS-065/NCNP- 

01 at either 40 mg/kg or 80 mg/kg for 72 weeks. 

Wave Life Sciences presented data on a similar candidate, 

WVE-210201, targeting a mutation on exon 51. The data 

came from in vitro cellular studies and research done in mice. 

The company is currently enrolling patients, ages 5 to 12, in 

a randomized, double-blind, placebo-controlled Phase 1 trial 

(NCT03508947) at sites in the U.S., France, and the U.K. 

Wave Life is planning to research a new therapy targeting 

exon 53 in 2019. 

Sarepta Therapeutics presented preclinical data on several 

candidates targeting different exons, and discussed a new 

open-label Phase 1 trial (NCT03375255) testing an exon 

51-skipping potential treatment, SRP-5051. This study is 

enrolling male patients, ages 12 and older, at sites across the U.S. 

The session briefly took a somber turn when a representative 

from Summit Therapeutics touched upon the company’s 

decision to discontinue its development of ezutromid based 

on Phase 2 trial data showing a lack of benefit to DMD 

patients. 

The session ended with PTC Therapeutics addressing 

developments with Translarna (ataluren), approved in the 

EU as the first treatment targeting the underlying cause of 

DMD. Translarna is not approved for use in the U.S., but is 

expected to come under FDA review again in about a year. 

A long-term, randomized Phase 3 trial (NCT03179631) 

testing Translarna’s effects on disease progression versus 

placebo is enrolling about 250 patients with nonsense mutations, 

ages 5 and older, across the U.S., Europe, Asia, and 

Australia. 

Inflammation 

By Emma Yasinski 

Therapies targeting inflammation, such as glucocorticoids, 

have commonly been prescribed to DMD patients for decades. 

Research suggests they can help prolong patients’ ability to 

walk. But many patients – and parents – oppose their use due to 

concerns about side effects, such as bone loss and weight gain. 

Five companies presented data on new and potentially 

different ways of treating inflammation in DMD patients. 

Reveragen presented data from an open-label Phase 2a 

trial (NCT02760277) suggesting that vamorolone could 

be safer than existing steroids, such as prednisone. 

Researchers developed this potential treatment to be what is 

called a “dissociative steroid,” meaning that its potential 

effectiveness is chemically separated from potential side 

effects. The next trial testing this therapy, anticipated to start 

in 2019, will include DMD patients ages 2 to 4 and 7 to 18. 

Catabasis presented Phase 2 trial data (NCT02439216) on 

edasalonexent, which inhibits a protein complex called the 

nuclear factor kappa-light-chain-enhancer of activated B- 

cells (NF-kB), known to be involved in inflammation. The 

therapy showed potential to slow disease progression. A 

Phase 3 trial is also planned that will measure ambulatory 

and timed movement functions, and collect MRI scans of 

muscles to determine their fat fractions. 

7

MD 

Italfarmaco discussed Phase 2 data (NCT01761292) on 

givinostat, a histone deacetylase (HDAC) inhibitor. Increased 

HDAC activity may trigger inflammation and prevent 

muscle regeneration in DMD patients. A randomized, doubleblind, 

placebo-controlled Phase 3 trial (NCT02851797) is 

currently enrolling more than 200 ambulatory patients, ages 6 

to 17, who will be given either 10 mg/mL of givinostat or a 

placebo twice daily. The study is taking place at sites in the 

U.S., Canada, and Europe. 

Mallinckrodt Pharmaceuticals presented preclinical data on 

its anti-inflammatory candidate, MNK-1411, which received 

orphan drug designation from the U.S. Food and Drug 

Administration. MNK-1411 is thought to prevent inflammation 

by mimicking the adrenocorticotropic hormone, which 

regulates immune cell function. The company is beginning 

a Phase 2 trial (NCT03400852) in the U.S. in boys ages 4 to 

8. Patients will be randomized to receive a high- or low-dose 

injection of MNK-1411 or a placebo twice a week. 

Capricor shared preclinical and Phase 1/2 data 

(NCT02485938) suggesting that its cell therapy, CAP-1002, 

could reduce scarring on the heart, and possibly improve 

upper limb function. A Phase 2 trial (NCT03406780) 

is actively recruiting both ambulatory and non-ambulatory 

patients in the U.S. who will be randomized 

to receive either CAP-1002 or a placebo via intravenous 

infusion once every three months for 12 months. 

Improving Muscle Mechanics 

Five companies also presented data on therapies 

designed to improve muscle mechanics through a variety of 

mechanisms. 

Roche/Genentech and Pfizer both outlined potential 

treatments that block myostatin, a molecule that tells muscles 

to stop growing. Roche/Genentech is recruiting ambulatory 

boys ages 6 to 11 for a Phase 2/3 trial (NCT03039686) in 

which patients will be randomized to receive 48 weekly 

injections of RG6206 (also known as BMS-986089) or a 

placebo. The study is being conducted in several countries, 

including the U.S., Australia, Argentina, and those in Europe. 

Pfizer presented preclinical data for its myostatin-inhibiting 

candidate, domagrozumab. A randomized, double-blind, 

placebo-controlled Phase 2 trial (NCT02310763) evaluating 

its effectiveness for DMD is expected to conclude in late 2019. 

Santhera shared results from its Phase 3 DELOS 

trial (NCT01027884), suggesting that idebenone may 

delay the loss of respiratory function in DMD patients who 

aren’t taking steroids. The company is now conducting 

another Phase 3 trial, SIDEROS (NCT02814019), which is 

enrolling ambulant and non-ambulant patients, 10 years and 

older, currently on steroid treatment, in the U.S. and Europe. 

Participants will be randomized to take idebenone or a 

placebo daily for 18 months. The therapy is not yet approved 

in the U.S. but has become available under an expanded 

access program, in the country, but an advisory committee in 

Europe twice recommended against its approval for DMD. 

Phrixus Pharmaceuticals presented preclinical data on its 

Carmaseal-HD therapy, a daily injection that may modify the 

course of the disease by repairing membrane damage. The 

company hopes the therapy will benefit patients regardless of 

their individual genetic mutation. The first clinical trial – an 

open-label Phase 2 study (NCT03558958) – is currently enrolling 

up to 10 non-ambulatory patients, ages 12 to 25, with 

respiratory dysfunction, who will take the therapy once a day 

for 52 weeks at Cincinnati Children’s Hospital. 

FibroGen discussed its potential fibrosis-preventing therapy, 

pamrevlumab. The therapy has been tested in trials involving 

patients with pancreatic cancer and pulmonary fibrosis for 

safety, and an open-label Phase 2 trial (NCT02606136) in 22 

non-ambulatory DMD patients ages 12 and older in the U.S. 

is ongoing. Patients are receiving a biweekly intravenous infusion 

of the therapy for up to 156 weeks. 

Gene Editing 

The research portion of the conference ended with a panel 

on gene editing techniques. Dongsheng Duan, PhD; Jeff 

Chamberlain, PhD; and Melissa Spencer, MD, PhD, 

tentatively discussed their work and answered questions 

about CRISPR/CAS9, the breakout gene editing technique 

adapted about five years ago. While enthusiastic, the 

presenters were careful to remind parents and patients that 

forgoing standard DMD care while waiting for CRISPRbased 

therapies to be developed would not be wise. 

Researchers are hopeful that CRISPR/CAS9 may be used 

to delete mutated genes in DMD, or possibly replace 

them with genes that encode functional proteins. One 

of the struggles is designing a delivery system. Some 

scientists are using viruses to deliver the gene 

editing molecules, while others are working to develop 

nanoparticles that might be tailored specifically for this 

purpose. 

It will be crucial to selectively edit muscular cells, which are 

less susceptible than others to the risks of gene editing, such 

as cancer cells. The researchers showed promising animal 

data, but again emphasized that the technique has a way to go 

before it might benefit patients. 

Article online at: https://musculardystrophynews. 

com/2018/07/06/4-dmd-treatment-approaches-highlightedppmd-conference/ 

8

Muscular Dystrophy News, 11 May 2017 

Finding out your child has a neuromuscular disorder is an 

incredibly difficult time for the whole family, but you adjust 

quickly. While your child’s unlikely to realize they’re different 

from other children when they’re young, they’ll start to 

question why they’re different from their peers and siblings 

as they get older. 

According to Muscular Dystrophy Canada, there will come 

a time when you’ll need to sit down with your child and explain 

their condition and what it means. There is no right or 

wrong way to tackle this, nor is there any timeframe. It’s generally 

best to be as honest as you can without overloading 

your child with information they may not be mature enough 

to process. 

Usually, children with neuromuscular disorders will notice 

they are slightly different from others at a fairly young age. 

It’s advised to handle any questions as they occur. Explaining 

how their condition will affect them as they age may be 

stressful for both parents and child, but it’s important that the 

topic is handled carefully and sensitively. Shielding children 

from the truth may backfire if they find out why they’re different 

or what their disorder means from others. Your child 

needs to be able to trust you and look to you for guidance. 

MD 

How to Talk to Your Child about Their 

Neuromuscular Disorder 

By Wendy Henderson 

Children need to know why their bodies don’t work in the 

same way as other children’s, as well as what their future 

may have in store for them. You can explain most disorders in 

an easy-to-understand way that will help them grasp what’s 

happening and give them the tools to explain their condition 

to other people. 

Explaining that their muscles don’t work properly because 

they didn’t come with the right instructions or that the nerves 

in their spine are sending the wrong signals are two easy 

ways for children to understand the basics of why they can’t 

do some of the things their friends or siblings can. 

It’s essential that you take the time to reassure your child that 

he or she has done nothing wrong and that it isn’t their fault 

they have a neuromuscular disorder. They also need to know 

that it’s OK if they sometimes feel sad or angry about their 

situation. 

Take time to focus on the positives in your child’s life and all 

the things they’ll still be able to do, rather than concentrating 

on the things they won’t be able to do because of their 

disorder. Try to find some older children who have the same 

disorder who are living full and active lives for them to look 

up to. 

Article online at: https://musculardystrophynews. 

com/2017/05/11/talking-to-your-child-about-their-neuromuscular-disorder/ 

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Website: www.bkktrading.co.za 9

MD 

Facioscapulohumeral Muscular Dystrophy 

The following comprises extracts from the booklet About FSHD: Facioscapulohumeral muscular 

dystrophy, by the FSH Society (Lexington, MA, ©2015). 

What is FSHD? 

FSHD is among the most common forms of muscular 

dystrophy, affecting children and adults of both sexes. 

The cardinal feature of FSHD is the progressive loss of 

muscle strength. The disease’s name comes from the typical 

pattern of weakness at onset: the face (facio), shoulder girdle 

(scapulo), and upper arms (humeral). However, the disease 

can differ in the typical initial pattern of weakness: not 

every patient experiences facial muscle loss, and many 

develop muscle weakness in the legs and torso. 

The symptoms can develop at any age, from infancy through 

advanced age. Many patients recall being unable to whistle, 

smile, or close the eyelids as a child. The majority of males 

are diagnosed by age 20, and females by age 30. About 4 

percent of cases are diagnosed in children under the age of 

5. These early-onset or infantile-onset (iFSHD) patients are 

at greater risk of having more severe symptoms and added 

health complications. 

Although the progression of FSHD is variable, it is usually 

relatively slow. Asymmetry is a hallmark of FSHD. Most 

patients will observe that one arm (or shoulder blade, or 

lower leg) is weakened, while the other remains stronger. The 

reason for this asymmetry is unknown. 

Early weaknesses of the muscles around the eye (difficulty 

closing the eye) and mouth (difficulty smiling, puckering 

the lips, or whistling) are distinctive for FSHD. Facial 

weakness in combination with weaknesses in the muscles that 

stabilize the shoulder blades, which result in “winging” of the 

scapula, is often the basis of the physician’s initial diagnosis 

of FSHD. 

As the disease progresses, the lower and upper leg 

muscles are often affected. About 20 percent of FSHD 

patients overall will become dependent on a wheelchair or 

scooter. Weakness in the abdominal muscles can cause a 

protuberant abdomen and lumbar lordosis (“sway back”). 

The lower abdominal muscles are usually weaker than the 

upper abdominal muscles. This results in a movement of the 

navel toward the head upon flexing the neck. Doctors call 

this a positive Beevor’s sign; it is not seen in many other 

diseases and is a physical characteristic very specific to FSHD. 

Approximately half of FSHD cases also involve abnormalities 

of blood vessels in the back of the eye, but these lead to 

visual problems in less than 1 percent of cases. Since these 

abnormalities are not exclusive to FSHD, one must bear in 

mind that their presence alone in someone at risk for having 

FSHD is not sufficient for a diagnosis of FSHD. 

Respiratory insufficiency is a more common problem, 

especially among patients who have become scooter or 

wheelchair dependent. These patients should have an annual 

consultation with a pulmonologist to monitor respiratory 

function and blood carbon dioxide. 

Symptoms or signs can (but don’t always) 

include: 

■ inability to whistle; 

■ inability to sip through a straw; 

■ eyes that don’t close fully during sleep; 

■ difficulty with sit-ups and pull-ups; 

■ shoulder blades that “wing” out; 

■ difficulty raising arm above shoulder height; 

■ foot drop (foot dorsiflexion weakness); 

■ difficulty walking, climbing stairs, or rising from a seat; 

■ falling; 

■ weak lower abdominal muscles, protuberant abdomen, 

“Beevor’s sign”; 

■ curved spine (lordosis). 

Individuals with FSHD, particularly with more 

advanced or severe cases, can also experience: 

■ episodes of “malaise” or “burning pain” in muscles; 

■ severe pain from changes in posture and strain on 

remaining muscles; 

■ chronic fatigue; 

■ respiratory insufficiency (potentially life threatening); 

■ symptomatic hearing loss; 

■ Coats’ disease (symptomatic retinal vascular disease), 

though this is rare. 

What causes FSHD? 

FSHD is genetic in origin, caused by a complex combination 

of changes in an individual’s DNA. It is inherited and is not 

contagious. 

FSHD can also have the following non-muscular 

manifestations: high-frequency sensorineural hearing loss in 

both ears, respiratory insufficiency, abnormalities of blood 

vessels in the back of the eye, and non-symptomatic cardiac 

arrhythmias. 

In more than half of people with FSHD, high-frequency 

sensorineural hearing loss occurs in both ears; this should 

be checked in children and adults experiencing hearing 

difficulties. 

10 

FSHD Type 1 (also called FSHD1, FSHD1A, or FSHMD1A) 

is the more common form of FSHD, accounting for approximately 

95 percent of cases. 

FSHD is thought to result from the abnormal expression 

in muscle of a gene called DUX4. Normally, DUX4 is 

expressed only in early embryogenesis and in the cells that 

develop into sperm. But when expressed in muscle, DUX4 

appears to be toxic. Other genes may also be involved in the 

disease process.

The DUX4 gene is encoded in a unit called D4Z4, which 

is repeated in tandem near the end of chromosome 4 (at a 

location called 4q35). In unaffected individuals, the D4Z4 

array on chromosome 4 is “hypermethylated” (has many 

methyl molecules attached) and is compacted, preventing 

DUX4 expression. 

In individuals with FSHD Type 1, this D4Z4 repeat array 

is reduced from a normal range of more than 10 contiguous 

units to a range of between one and 10 contiguous units. 

The contraction of the D4Z4 region on chromosome 4 by 

itself is not sufficient to cause FSHD. Adjacent to the D4Z4 

region lies a region that comes in two alleles (variants) called 

4qA and 4qB. Only 4qA contains a polyadenylation site 

allowing a stable production of the DUX4 gene. 

Individuals who have a 4qB “non-permissive” allele are 

unaffected, even if the D4Z4 region is shortened. With FSHD, 

in addition to having 4qA, the contracted D4Z4 region is 

depleted in methyl groups (is under- or hypomethylated). 

It is the combination of these three factors that results in the 

full expression of FSHD symptoms. 

Researchers have found individuals who have the contracted 

D4Z4 region together with the 4qA allele but who have no 

symptoms, or extremely mild symptoms. These “nonmanifesting” 

individuals can pass along FSHD to their children. 

The difference between being non-manifesting and having 

FSHD symptoms appears to lie in the degree of methylation 

of the D4Z4 units. Non-manifesting individuals have several 

times higher methylation than do individuals with FSHD 

symptoms, although less methylation than people with a normal 

number of D4Z4 repeats. 

FSHD Type 2 (also called FSHD2, FSHD1B, or FSHMD1B) 

is the term used to describe the 5 percent of FSHD cases that 

test negative for FSHD Type 1 (meaning that they are not 

associated with a loss of D4Z4 repeat units on chromosome 

4). 

Eighty-five percent of FSHD2 cases are caused by the 

inheritance of two independent genetic variations: 

mutation of the Structural Maintenance of Chromosomes 

flexible Hinge Domain containing 1 gene (SMCHD1) 

on chromosome 18, combined with having the same 

“permissive” 4qA allele on chromosome 4 that is associated 

with FSHD1. Individuals with FSHD2 have extreme loss of 

methylation of the D4Z4 units. The size of the D4Z4 region 

of the 4qA (i.e., DUX4-producing) chromosome in FSHD2 

is most often between 11 and 16 units, which is at the lower 

end of the repeat size spectrum of unaffected individuals. 

FSHD “Type 3” refers to the 1 percent of cases that lack the 

FSHD1 and FSHD2 genetic mechanisms, and is an active 

area of research. 

How is FSHD diagnosed? 

The first step in diagnosing FSHD is a visit with a doctor for 

a physical exam. An initial diagnosis is based on the pattern 

MD 

of muscles affected. The doctor will ask a series of questions 

about the patient’s family history and medical history. 

The doctor may order tests to determine whether the 

symptoms are a result of FSHD. Tests may also rule 

out other problems that could cause muscle weakness, 

such as surgery, toxic exposure, medications, or 

other diseases. These tests may include the following: 

■ Blood tests to measure levels of serum creatine kinase 

(CK), an enzyme that is released into the bloodstream when 

muscle fibers are deteriorating, and serum aldolase, an enzyme 

that helps break down sugars into energy. Elevated 

levels of either of these enzymes can indicate a problem 

with muscles and a need for additional testing. However, a 

normal CK level does not rule out FSHD. 

■ Neurological tests including electromyography (EMG) to 

rule out other nervous system disorders, identify patterns 

of muscle weakness and wasting, test reflexes and coordination, 

and detect muscle contractures. 

■ Muscle biopsies, which involve the removal of muscle 

tissue using a biopsy needle or during a simple surgical 

procedure. The tissue is then examined under a microscope. 

In FSHD, a muscle biopsy might reveal several abnormalities, 

but none are uniquely characteristic for the disease, 

or the muscle might even appear normal. To confirm a 

diagnosis of FSHD with certainty, a genetic test is needed. 

■ A genetic test involves taking a small sample containing 

the patient’s cells (blood, saliva, skin, etc.) and sending it 

to a specialized laboratory where the DNA is extracted and 

analyzed. See the next section for further details. 

How does genetic testing work for FSHD? 

Genetic tests for FSHD1 are commercially available. Genetic 

testing for FSHD2 is not yet widely available. The tests are 

highly reliable for most cases. Your doctor can order a small 

blood sample to be drawn and sent to a testing laboratory. The 

laboratory extracts DNA for the test from the white blood cells. 

The FSHD1 genetic test detects the deletion of D4Z4 repeat 

units on chromosome 4, described earlier. Although several 

factors may occasionally complicate the test, confirmation of 

this deletion is 98 percent reliable as a presumptive diagnosis 

of FSHD1. 

Individuals who test negative for FSHD1 may be referred for 

testing for FSHD2. The FSHD2 test detects mutations in the 

SMCHD1 gene on chromosome 18, the presence of the 4qA 

allele on chromosome 4, and the amount of methylation of 

the D4Z4 region on chromosome 4. 

For more information on laboratories that offer genetic 

testing, please refer to the FSH Society’s website (www.fshsociety.org/genetic-testing). 

The Society does not endorse any test 

or laboratory. Individuals should consult their own physician 

and genetic counselor about taking the DNA diagnostic test. 

Every person has 23 pairs of chromosomes (DNA 

packages) in each cell. Half of the genes in each pair 

come from the father and half from the mother. In 

11

MD 

autosomal dominant inheritance, it takes only one copy 

of a disease-causing gene (blue) to cause a disease. If one 

parent has a disease-causing gene, each child has a 50% 

chance of inheriting that gene and having the disease. 

How does a person inherit FSHD? 

About two-thirds of individuals with FSHD inherit the 

disease from an affected parent. If one parent has the 

FSHD genetic mechanism, that parent has a 50-50 chance 

of passing the disease on to each child of either sex. 

Seemingly unaffected family members can carry the 

mutation. This fact was discovered after genetic 

testing was done on multiple family members after one 

member was diagnosed with FSHD. It is not known 

whether these “non-manifesting” individuals will develop 

symptoms as they grow older. The discovery of non-manifesting 

cases means that a child could inherit FSHD even 

if both parents appear to be unaffected, if one parent 

carries the mutation but does not have symptoms. Only 

genetic testing of both parents can determine if this is the case. 

With several very rare exceptions, if individuals do not have 

a positive FSHD1 or FSHD2 genetic test, they cannot pass 

the disease on to their children. 

If a family member has FSHD, could I have the 

FSHD mutation? 

Yes. If you have a biological parent, sibling, or other blood 

relative who has the FSHD mutation, you have a risk of 

carrying the mutation, but only if at least one parent has 

the FSHD gene mutation. The number of D4Z4 repeat 

units, known as the FSHD deletion size, is stable across 

generations, so an affected parent will likely pass along the 

same number of D4Z4 repeats and 4qA haplotype to a child. 

Oftentimes, an individual is diagnosed and does not know if 

a parent has the FSHD genetic mutation. Although a parent 

may not have signs of FSHD, only a genetic test can confirm 

whether or not the parent carries FSHD. The parent’s parents 

may be affected as well, and possibly uncles, aunts, and cousins. 

Often, when a person is diagnosed, the disease is discovered 

to be present throughout the extended family tree and over 

many generations. It is important to be aware that there may 

be other family members who are affected but unaware that 

they may have FSHD or may be at risk for it. Professionals 

with knowledge of genetics and inheritance of FSHD can 

advise them regarding that risk. 

Should I seek a diagnosis even if I don’t have 

symptoms? 

Adults at risk, even without obvious symptoms, may want 

to consult a physician or genetic counselor about seeking a 

diagnosis if they wish for reassurance. 

Examinations by clinicians familiar with the disease are 

quite dependable when they detect an expected pattern of 

weakening muscles. However, the diagnosis may still be 

equivocal at younger ages and with some at-risk adults with 

mild or non-manifesting cases. This uncertainty can occur 

during years when there are important vocational, marital, 

and family planning choices to be made. 

A genetic test can help alleviate much of this uncertainty. 

However, the test result does not fully predict how the 

disease will run its course in an individual. A genetic 

counselor can help you navigate the decision on whether to 

be tested and assist you and your family in processing the 

information from the test results. 

What are sporadic cases of FSHD? 

Sporadic FSHD cases are those in which a patient’s parents 

are both unaffected. Studies report that up to a third of FSHD 

cases are sporadic. Eighty percent of sporadic cases are the 

result of a new, spontaneous mutation (known as a de novo 

mutation). Once this mutation appears in an individual, each 

of his or her offspring has a 50 percent chance of inheriting 

FSHD. 

Approximately 20 percent of reported sporadic cases 

result from having a seemingly unaffected parent who is a 

“germline mosaic,” meaning that only the mother’s or 

father’s germ cells (egg or sperm) have the FSHD mutation, 

while the rest of the body is genetically normal. Once a child 

inherits FSHD through a germline mutation, all cells in the 

child’s body carry the FSHD mutation, and the disease can be 

transmitted to subsequent generations. 

Is there a prenatal test for FSHD? 

Yes. Using the same technology as the DNA test described 

above, prenatal testing is possible. Also, for women who 

choose to have in vitro fertilization, preimplantation genetic 

diagnosis (PGD, DNA testing of embryos) is available. 

An individual who is interested in a prenatal test or PGD 

for FSHD should consult a physician or contact the FSH 

Society. The Society can provide further information about 

this subject. 

How many people have FSHD? 

Often-cited figures for the prevalence of FSHD range from 

one in 14,000 to one in 20,000. However, due to increased 

experience with FSHD, population-based research, and 

improved genetic testing, this estimate may be low. … 

FSHD occurs in all racial groups and with equal frequency 

in both sexes. 

12

MD 

When do symptoms appear? 

Although the FSHD genetic mechanism is present from 

conception, weaknesses are generally not noticeable until 

the second decade of life. Muscle weakness can be found 

in most affected individuals by age 20 in males and by age 

30 in females. However, in some individuals the symptoms 

can be so slight that they can go unrecognized well into 

advanced age. Conversely, in some children symptoms can be 

quite pronounced and severe from the first few years of life. 

It is also not uncommon for FSHD symptoms to be mistaken 

for an injury or other disorder such as polymyositis (muscle 

inflammation). For some people, FSHD is diagnosed fairly 

quickly, while for others it can take many years from initial 

symptoms to a confirmed diagnosis. This depends on many 

factors, including the individual’s access to doctors and other 

healthcare providers knowledgeable about FSHD. 

FSHD in children 

In early-onset or infantile FSHD (iFSHD), an infant or child 

under the age of 5 develops symptoms. About 4 percent of 

symptomatic FSHD cases are of the infantile type. In iFSHD 

there are facial weaknesses during the first two years of life 

in addition to other typical muscle weaknesses of FSHD. 

Some of these children also have moderate to profound 

bilateral sensorineural hearing loss and sight-threatening 

retinal abnormalities (Coats’ disease). It is important to 

routinely check hearing and vision if your child is affected by 

FSHD. Early-onset and infantile cases of FSHD often pose 

special challenges arising from severity of the symptoms, 

and schooling and socialization issues. The FSH Society 

provides helpful information, including a brochure for 

schools, and coordinates a private Facebook group for 

parents of children with iFSHD. For a brochure or further 

information, please contact the FSH Society. 

What is the prognosis of FSHD? 

Predicting the course and outcome of the disease – the 

prognosis – has its certainties and uncertainties. There 

is certainty that some skeletal muscles will weaken 

and waste throughout life and that this can, and often 

does, cause limitations on personal and occupational 

activities. FSHD appears not to diminish the intellect. The 

heart and internal (smooth) muscles are generally spared. 

There are uncertainties. The rapidity and extent of muscle 

loss differ considerably among FSHD patients – even among 

members of the same family. Some report few difficulties 

throughout life, while others need a cane, walker, or wheelchair 

as walking becomes too difficult or impossible. The degree 

of severity in a parent with FSHD cannot accurately predict 

the extent of disability that may develop in his or her child. 

Muscle and movement are an important part of the full 

expression of much of life. Often, there are losses difficult 

to define in clinical terms. The accompanying losses often 

eclipse the clinically defined symptoms and are a significant 

part of the FSHD prognosis. 

Are treatments and aids available for FSHD? 

There is no treatment or cure yet for FSHD. There are, 

however, things that can be done to alleviate its effects, 

including meeting with knowledgeable health practitioners. 

Neurologists are often the primary physicians in 

muscle disease clinics, since muscles do their work 

through stimulation by nerves. If your primary care 

doctor notices muscle weakness, he or she should refer 

you to a neurologist who specializes in muscle diseases. 

Physiatrists are physicians who work with chronic 

neuromuscular conditions. Periodic visits with a neurologist 

or physiatrist are useful to monitor the progress of FSHD and 

to obtain referrals to other professionals and services. 

An orthopedist (a physician concerned with the 

skeletal system and associated muscles, joints, and 

ligaments) can offer advice about mobility issues and 

other functional problems of the muscular/skeletal system. 

Physical therapy, including light exercise, helps preserve 

flexibility. Swimming is especially helpful by making many 

movements easier. One should stay as active as possible, 

with rest breaks as needed during exercise and activities. 

Moderate aerobic exercise combined with cognitive 

behavioral therapy has been shown in a clinical trial to 

reduce chronic fatigue in FSHD patients. Physical and 

occupational therapists can help with suggestions for 

adaptations and physical aids that can often partially free 

an FSHD patient from some limitations of the disease. 

Foot drop can sometimes be managed with ankle-foot 

orthotics (AFOs) and knee-ankle-foot orthotics (KAFOs). 

Patients may resist adaptations and aids, feeling that they are 

“giving in” to FSHD by using them, but these devices reduce 

the risk of falls and serious injuries that can lead to permanent 

loss of mobility. A cane or walking stick can be very 

helpful in avoiding falls and alerting others that you are at 

risk for falling. Adaptations and physical aids help to extend, 

rather than end, mobility and independence. Many patients 

report significant pain, although others are spared. No specific 

treatments are available. Gentle stretches in the morning 

can alleviate pain from cramped muscles. Pain medication 

and mild physiotherapy are often prescribed with moderate 

results. Some patients have found significant relief through 

acupuncture. Relaxation and managing stress are reported to 

help with many chronic pain conditions. Dietitians can help 

maintain a healthy diet and avoid unnecessary weight to 

reduce stress on already weakened muscles. 

Speech and hearing therapists can help with limitations 

imposed by hearing loss and weakened facial musculature to 

improve speech and communication. 

13

MD 

Surgery to attach the scapula (shoulder blade) to the ribcage 

can improve motion of the arms or relieve pain. Surgical 

methods to address foot drop and facial muscle weakness 

are also being developed. Only some patients are suitable 

candidates for surgery. Individuals who are considering such 

surgery should consult with their neurologist or physiatrist 

and an orthopedic surgeon (for scapular and leg surgery) or 

reconstructive plastic surgeon (for facial surgery). Choose 

only surgeons who have experience with the procedure and 

a deep understanding of FSHD and the demands of post-surgical 

physical rehabilitation. It is essential to discuss these 

procedures with individuals who have undergone the 

surgery. … 

Can respiratory insufficiency occur in FSHD? 

Yes. Respiratory involvement can occur. Patients with 

moderate to severe FSHD should have their respiratory 

function evaluated during periodic clinic visits. Regular 

monitoring of respiratory function is suggested, as one might 

experience insufficiency over a long period of time without 

presenting signs. 

It’s important to be aware that respiratory compensatory 

mechanisms can allow one to adapt to functioning with high 

levels of carbon dioxide (CO2) in the blood – at levels 

doctors would not expect to permit normal function. This is 

known as hypercarbia and is dangerous in the long term. 

Discuss breathing tests with your doctor if you experience 

any of the following: 

■ Never feeling rested even after a good night’s sleep. 

■ Morning headaches. 

■ Snoring loudly or in a different pattern than usual. 

■ Labored and interrupted breathing while lying down. 

■ Fatigue and daytime sleepiness. 

For FSHD patients with respiratory insufficiency, in standard 

practice, trauma (ER, ICU), surgery, and anesthesiology 

settings, care should be taken not to suppress respiratory 

drive with narcotics unless it is a situation of palliative care. 

If narcotics are necessary for pain control, it is very important 

that you notify the emergency responders or doctors about 

FSHD and any respiratory problems you might have or be 

at risk for. Carry a medical alert card with you at all times. 

Oxygen supplementation can be detrimental to patients 

with undetected or mismanaged hypercarbic (high CO2) 

respiratory failure and lead to worsening CO2 levels. 

Oxygen should generally not be administered unless 

BiPAP (Bi-level Positive Airway Pressure) or similar 

ventilatory support is also being used. Your physician and a 

pulmonologist can help you periodically monitor CO2 levels 

in the office or pulmonary function lab in the hospital. 

Along with respiratory care, it is important to know that 

in FSHD, cardiac studies show that cardiac arrhythmias 

and right bundle branch block (RBBB) can occur without 

cardiac symptoms and when echocardiography is 

usually normal. That said, individuals at risk for respiratory 

insufficiency or respiratory failure should talk with a 

physician about monitoring for symptoms of pulmonary 

hypertension and congestive heart failure. … 

For more information or to support the work of the FSH 

Society, visit www.fshsociety.org. 

Source online at: https://www.fshsociety.org/wp-content/ 

uploads/2014/03/New-Patient-brochure-FINAL-UPLOAD- 

ABLE.pdf 

The tests should include forced vital capacity and 

nocturnal oximetry tests. These are easy, non-invasive 

tests that don’t require a hospital stay. Because 

many doctors, even experienced neurologists, don’t a 

ssociate FSHD with respiratory problems, your 

doctor may be reluctant to order respiratory tests. Insist on 

respiratory tests if you feel the symptoms described above. 

Respiratory insufficiency can initially be managed with 

nighttime non-invasive pressure support, typically a 

BiPAP (Bi-level Positive Airway Pressure) machine. 

BiPAP or similar mechanical ventilation at night can 

increase oxygen and greatly improve sleep and energy 

level. In more advanced or acute cases, patients may 

require the use of a volume-control and pressure-control 

ventilator for invasive and non-invasive ventilation. 

You should be tested periodically to ensure that the settings 

on the machine are appropriate. Your doctor should consult 

a respiratory therapist (RT) as early as possible, and the RT 

should remain involved in monitoring your progress. 

World FSHD Day took place on 20 June to raise awareness 

for facioscapulohumeral muscular dystrophy. Individuals 

with FSHD, their families and supporters, and advocacy 

organisations across the globe came together to raise 

awareness for FSHD, one of the most prevalent forms of 

muscular dystrophy. 

14

Up until a few years ago there was no known treatment 

for spinal muscular atrophy, an autosomal recessive 

degenerative neuromuscular genetic disorder, considered 

the number one genetic cause of infant death. Individuals 

affected by SMA are known to have an SMN1 gene 

deletion, which is the gene responsible for producing 

muscle building protein. Too little of this vital protein 

results in early death of survival motor neurons, which 

leads to muscle wastage or atrophy. 

MD 

SMA treatment could soon be accessible in 

South Africa 

By Tasnim Jadwat 

Medical experts and researchers as well as motivated 

families of individuals with SMA have worked 

relentlessly in funding and identifying ways of 

targeting the backup SMN2 gene to produce sufficient 

protein for muscle development. The results have been 

outstanding, with major pharmaceutical companies 

applying for fast-tracked FDA approval in America. With 

Spinraza being FDA approved, countries worldwide have 

applied for accessibility to treatment. 

Nusinersen or Spinraza is the only FDA approved 

treatment for all types of spinal muscular atrophy and 

may soon be made available in South Africa at a 

negotiated cost. The drug, which received FDA approval 

in December 2016, has shown promising results in 

individuals affected by SMA who lack the SMN1 gene. 

The costly drug has been labelled a miracle as it assists 

in muscle development by targeting the SMN2 gene and 

reversing symptoms in SMA patients. 

Generally, the younger the individual diagnosed with 

SMA is, the more severe is the condition, yet infants 

have shown immense improvement in achieving 

milestones when commencing the treatment as early as 

possible. Older individuals are also showing favourable 

results. There are 4 or 5 different forms of SMA, 

varying according to severity of the condition, with type 

0-1 being the most severe. Since SMA is a degenerative 

condition, muscle wastage occurs with time, disabling 

an individual and making them susceptible to respiratory 

infections. In some of the severer forms, the ability to 

swallow, talk and even smile is lost. A simple cold or flu, 

if not treated in time and properly, can result in death. 

The staggering price tag is expected to be negotiated 

considering South Africa’s economic status. In America, 

six treatments are administered in the first year at a cost 

of $125 000 per dose, i.e. $750 000 in total. Every 

subsequent year requires three doses of the drug 

administered through a lumbar puncture. This excludes 

administration, hospital and professional services costs. 

Cure SMA South Africa needs your help! 

Do you or someone you know have spinal 

muscular atrophy? 

We are looking for any person or persons affected by this 

condition as Biogen’s breakthrough drug Spinraza might 

soon be available in South Africa at a negotiated cost. 

If you have answered “yes” to the above question, please 

submit your details so that we can add you to our support 

group and keep you informed with regard to obtaining 

Spinraza. 

Contact: 

Tasnim Jadwat, Cure SMA South Africa 

Mobile: 072 153 5953 

Email: tassyjad@gmail.com 

#CureSMA 

15

Events 

The 2018 Muscular Dystrophy 

Johannesburg to Cape Town Cycle Tour 

By Dr Sandeepa Rajbaran Singh 

It is said that hope begins in the dark, the stubborn hope 

that if you just show up and try to do the right thing the 

dawn will come. On 28 February 2018, well before the 

blushing of the eastern skies, a group of commendable 

cyclists did just that: they showed up and did the right 

thing in the hope that each of their pedal strokes would 

help change the lives of those in need. Looking ahead 

at nine days of spokes, spindles, seats and sprockets, 

the team of Muscle Riders set out to complete the 2018 

Muscular Dystrophy Johannesburg to Cape Town 

Cycle Tour as a salutation to the sufferers of muscular 

dystrophy (MD). 

Led by Angelos and Cindy Frantzeskos, the team comprised 

Karan Singh, Jonathan Ridout, Brian Nyabonde, 

Byron Nyabonde, Bernard van Deventer, Joshua Kurensky 

and Farrell Kurensky. These eight dedicated and 

selfless cyclists chose to bear the harsh African sun, 

blistering heat and wicked headwinds to prove their 

commitment to uplifting the quality of life of MD sufferers. 

Thanks to the generous sponsorship of cycling kits 

by Panda Cycling, cyclists both looked and felt ready to 

take on the challenge. Taking the road less travelled, 

cyclists rode out from Johannessburg, passed through 

Klerksdorp, Christiana, Kimberley, Travalia, Oudtshoorn, 

Beaufort West, Barrydale and Hermanus and 

finally reached Gordon’s Bay. 

Culminating in the completion of the Cape Argus 

Cycle Challenge, the cyclists rode a distance of 1600 

km over the nine days. Enjoying a drink at the oddest 

pub in Africa and being cloaked in the rolling mist of 

Tradouw Pass, the team was convinced that cyclists 

know the contours of our country best! Apart from 

enjoying the scenic views and great camaraderie, the 

cyclists also took time out to consider what the tour meant 

to them. When a brave young MD sufferer fell seriously ill 

during the tour, one of the cyclists, Karan Singh, reflected 

that appreciating the daily challenges that young MD 

sufferers encounter inspired him to try his best on every 

ride and appreciate all the little blessings that we come 

to take for granted. This shared spirit was obviously the 

secret to success for this year’s tour. On completion of 

the tour, team leader Angelos Frantzeskos said it had 

been an honour and pleasure to be part of what could 

only be described as a Dream Team. 

The tour sought not only to raise awareness of this 

incurable disease but also to raise funds for Muscular 

Dystrophy Foundation Gauteng. Through this initiative 

cyclists rallied friends, family and colleagues to raise an 

impressive total of R115 000, the largest amount that 

has been raised through this tour. The money raised 

was utilised to purchase a single electric wheelchair and 

eight sets of wheelchair batteries for nine MD patients. 

Needless to say the effort was rewarded by the bright 

smiles on the faces of these recipients and their loved 

ones! When asked about their aspirations for the tour 

next year, the Muscle Rider team said that they hoped 

to grow in 2019: in the number of riders, the money they 

raise and the lives that they can impact. Team members 

have encouraged other cyclists to consider this ride as 

part of their 2019 “bucket list” with the motivation that 

it is not only an amazing life experience but also an 

opportunity to be part of a humbling humanitarian 

initiative to be the change you want to see in the world. 

Mother Teresa once said that a life not lived for others 

is not a life at all. To all the real super heroes that live 

in the hearts of all those fighting muscular dystrophy, 

the Muscle Rider Team thanks you for inspiring us to 

be you! 

18

Events 

An athlete with heart 

By Pieter Joubert 

Naomi Janse van Rensburg is a brave athlete 

with a big heart. This year she decided to run 

her third Comrades Marathon as an awareness 

campaign. 

“I ran the Comrades out of appreciation that 

I can have a full and healthy life, and also 

for those who can’t do it for themselves”, she 

said. “I would like to make people more aware 

of muscular dystrophy, motivate and inspire 

people to reach out to people with muscle-wasting 

conditions. The disease lies close to my heart as 

I have great appreciation and admiration for 

people that are affected by it.” 

‘’People are part of a puzzle in someone’s life. 

You might not know where or how pricelessly 

you fit in, but that someone’s life might never 

be completed without you in it,’’ she concluded. 

Thank you, Naomi, for crossing the finish 

line with a flag that said you were running for 

people with muscle-wasting conditions and 

in support of finding a cure. It was awesome 

to see you doing so! 

“I ran for the uphill children, people and families who 

are affected by neuromuscular deficiencies, 

seeing that it has an impact not only on the 

person’s life but also on the whole family who 

has to run the road too”, Naomi said. She 

admires them because they try to make the best 

of their circumstances. 

Naomi decided to do the comrades this year in favour 

of the Muscular Dystrophy Foundation Gauteng, 

and said she not only wants to create awareness 

of the disease but also to raise money for our 

organisation to carry on with their good work. 

Her hope is that she will reach out to more 

people so that they can also reach out to others 

affected by neuromuscular deficiencies. 

Naomi’s motto for the marathon for the past three 

years, “It will humble you and take all of you, and 

there is no turning back”, is for her very applicable, 

as muscular dystrophy sufferers have to 

go through this battle on a daily basis. 

19

People 

Kevin Colhoun from Paisley 

is taking on RideLondon for 

#TeamOrange this year 

“My son, Connor, has Duchenne muscular dystrophy, so 

I like to make sure I take on a challenge every year for 

Muscular Dystrophy UK. Since giving up football, cycling 

has been my replacement and taking on tough cycling 

challenges has been a great way for me to raise money.” 

Kevin has taken on a number of cycling challenges, 

including the 96 mile Big Belter and cycling 1200 

miles from Celtic Park Glasgow to Estadio Nacional, 

Lisbon, Portugal. 

“The final stage of the Big Belter was pretty horrendous. 

They saved the hardest part with the most hills for the 

very end when you are already shattered!” 

Kevin’s advice for anyone thinking of taking on the 

Prudential RideLondon-Surrey 100 is: 

“If an old geezer like me can do it, anyone can with 

enough training. I started out at 15 miles. Just make 

sure you get on your bike! It is so important to build 

up mileage so you are ready for the challenge.” 

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

org/your-stories/kevin-colhoun-from-paisley-is-taking-on-ridelondon-for-teamorange-this-year/ 

The Muscular Dystrophy Foundation of SA 

would like to thank the National Lotteries 

Commission for their support. 

20

People 

“Everyone made me feel so welcome”: 

Sam Tisbury on volunteering for MDUK 

Sam Tisbury not only ran the London 

Marathon for Muscular Dystrophy UK this 

year, but also volunteered at the Oxford Town 

and Gown 10k, inspired by his “hero” uncle. 

Sam, 29 from Brentwood, said: 

“My uncle, Byron Truscott, was diagnosed with 

muscular dystrophy when he was in his twenties. He 

was told that he was unlikely to live past the age of 

45. He is now 62 and continues to fight the battle with 

muscular dystrophy. He is my hero, the kindest and 

most giving man you will ever meet. He wakes up 

every day with a smile and muscular dystrophy has 

not dented his cheeky character. 

“I wanted to challenge myself, for him, and signed up 

to the 2018 London Marathon in aid of MDUK. This 

was the foundation for volunteering at the Town and 

Gown, as I also met a family whose five-year-old boy 

has Duchenne muscular dystrophy. I knew I wanted 

to do more for the family and my uncle, helping to 

raise awareness and the Oxford Town and Gown was 

the perfect way to start doing this.” 

The 37th Oxford Town and Gown 10k took place 

on Sunday 13th May, with just under 5,000 sign 

ups, a record for the event, which is on track to 

raise £150,000 with all funds raised going towards 

Muscular Dystrophy UK. 

Sam’s role on the day was as a water station lead. 

This involved setting up one of the water stations and 

ensuring all out thirsty runners remained hydrated 

throughout the race. 

“The Oxford Town and Gown 10k is the first event I have 

volunteered at and hopefully the first of many! The 

atmosphere was great with everyone in high spirits. 

It was helped, of course, by the glorious weather on 

the day. 

“It felt great to play my part in raising awareness 

of muscular dystrophy, but I also really enjoyed 

the atmosphere of the crowd on the day and the 

appreciation from the runners as they passed by.” 

Sam’s advice for anyone interest in volunteering for 

Muscular Dystrophy UK at a Town and Gown is: 

“It’s so much fun. I did not stop smiling the whole time 

and the MDUK staff made me feel so welcome. It’s 

a great way to meet new people and do something 

that enables you to give back. Try one and find out 

for yourself!” 


org/your-stories/everyone-made-me-feel-so-welcome-sam-tisbury-on-volunteering-for-mduk/ 

21

People 

Peer support: “I’ve been able to 

make new friends” 

Everyone’s experience of living with a muscle-wasting 

condition is different, but speaking with someone 

else having a similar experience can really help. 

Our peer support network can put you in touch with 

other people living with the same condition as you. 

You may have just been diagnosed, seen a change 

in your condition, or just want to talk about what your 

condition means for everyday life. … 

Laurie Wallis has oculopharyngeal muscular 

dystrophy (OPMD), a rare genetic muscle disorder 

that typically becomes apparent between the ages 

of 40 and 60. She says that peer support offered 

by Muscular Dystrophy UK helped her accept her 

diagnosis. 

She said: 

“When my OPMD was confirmed in 2003, it was 

a difficult piece of news to receive. I left the 

hospital without a nurse or anyone else checking that 

I was alright to go. I had nobody with me, and it was 

several hours before I called on a very good friend 

to share the news. I told him I’d just been diagnosed 

with muscular dystrophy and then just burst into 

tears. 

“There was no professional help or support offered 

to me. That’s why I found out about MDUK, the work 

they do, and the support that is available through 

their regular group meetings. I have been proactive 

about attending the Muscular Dystrophy UK meetings 

when I can, and I’ve been able to make new 

friends as a result. I don’t want anyone to be left 

without the right amount of help and support when 

they need it.” 

There are lots of other ways to find support. You can 

attend our local meetings of Muscle Groups, who 

meet all over the UK to get support and advice on 

conditions, find out about local services, and meet 

other families. Together with our new Afternoon 

Teas, they are a great chance to meet other people 

near you. … 

And if you are young disabled person, our 700-strong 

Trailblazers network is a great way to meet other 

people, and join our campaigns and meetings. As a 

first step, you can join our busy group on Facebook 

now. 


org/your-stories/peer-support-ive-been-able-tomake-new-friends/ 

22

Living life 

to the full 

People 

By Kerry Walsh” 

At the end of grade 6 we decided to start looking 

at possible high school options. It didn’t seem 

to be a complicated process, but nothing is as 

it seems, and it was going to be one of my life’s 

defining moments. We tried every public and private 

school in our area and every one of them said no. 

We were left with two options that were not close 

to home or in our budget. I ended up going to 

Summit College, which was extremely accessible 

and accommodating. I managed well in high school. 

The experience of needing to attend a school 

exceeding our budget led to the start of The 

Kerry Walsh Trust, which we used to host 

fundraisers towards meeting my medical and 

educational requirements. Over the years we have 

had many successful fundraisers, including Barnyard 

fundraisers, the 94.7 ride for a purpose, and charity 

golf days. The fundraisers are now aimed at also 

being able to give back, as we have received so much. 

Life is a beautiful gift and it’s our responsibility to 

live it to the full, and that is what I plan on doing! 

My name is Kerry Walsh, and I was born on 22 

October 1997 along with my fraternal twin. During our 

first year my parents realized that I wasn’t developing 

like my sister was. I was taken to the doctor and 

diagnosed with low muscle tone. After months of 

physical therapy there was no improvement. I was then 

sent for a muscle biopsy in my neck, which showed 

that I had SMA (spinal muscular atrophy). I was given 

the life expectancy of 5 years, and my parents were 

told to take me home and enjoy the time we had. 

That plan didn’t work for us because we were not 

just going to give up! I am turning 21 this year and 

not planning to slow down anytime soon. As a family 

we take every day as it comes and always hope for 

the best. 

As a child I coped quite well. My parents sent me 

to a mainstream public school, Bryandale Primary. I 

have a very low immune system so was often ill with 

pneumonia. This led to me missing a lot of school, 

but I always managed to catch up. 

At the end of matric I wasn’t sure what I wanted to 

do with my life, so I decided to take a gap year and 

figure out my place in this world. In my gap year I 

had a “never say no” attitude. I was going to try 

everything that I could. It was at that time that I 

started my motivational speaking campaign called 

@KmotivationSA. I started with motivational 

speaking in high schools to encourage students 

to live life to the fullest, take advantage of their 

opportunities and love all kinds of people because 

everyone has a story but some are just a little more 

noticeable. I grew so much through doing these 

speaking engagements, and I gained a lot of 

exciting opportunities from getting my name and 

story out there. I started a Twitter rating system so 

that people with disabilities could know the places 

to go that were the most accessible. I am extremely 

passionate about changing the level of accessibility 

in South Africa because everyone deserves to go out 

without fearing that premises are not accessible. 

I was an ambassador for the 2016/17 Nappy Run 

(a campaign to raise awareness about children with 

disabilities) and have been nominated as one of the 

2017/18 Margaret Hirsch Women in Business. 

23

People 

My Story 

Pictured: Sharon, 

Stephen and Jason 

Howieson 

Jason Howieson 

My name is Jason Howieson, and I was born on 

11 March 1991. I was diagnosed with Duchenne 

muscular dystrophy when I was 8 years old. The 

first doctor I went to could not tell what was wrong 

with me until my mom found a specialist who 

diagnosed me with muscular dystrophy. I then went to 

theatre where a muscle biopsy was performed and 

Duchenne muscular dystrophy was diagnosed. 

When I failed grade one I was sent to a special 

school called Open Air School. A couple of years 

later, when I was 12, I went to hospital to have my 

Achilles tendons in my ankles lengthened, as I had 

developed dropped foot. I spent a few days in 

hospital, where the physiotherapist tried to get me to 

walk again, but I couldn’t. My dad carried me around 

and I used my gran’s wheelchair for a few weeks. 

After my 13th birthday I got a manual wheelchair 

from the Muscular Dystrophy Foundation KZN at 

a ceremony at Open Air School. When I was 15, I 

started using an electric wheelchair that the school 

loaned me for a few years until my aunt got me a 

used electric wheelchair through the church where 

she worked. For a couple of years I battled with 

depression because I was scared of dying young 

until my neurologist gave me hope by telling me 

I could live for 40 years. When I was 19 he sent 

me for a couple tests and then told me I had an 

enlarged heart, and I was put on heart medication. 

I try to be positive even when sometimes it is hard. 

With the love and support of my family, friends 

and church I am managing my condition. I like 

modified cars on TV shows and playing video games 

and watching TV series and movies and reading 

comic books. I used to be able to draw but now it is 

becoming hard because my hand gets tired. 

My favourite quote is: “God grant me the serenity 

to accept the things I cannot change, courage to 

change the things I can, and wisdom to know the 

difference.” 

I would like to thank the Muscle Riders and 

Muscular Dystrophy Foundation Gauteng for 

assisting me with a motorised wheelchair from CE 

Mobility. 

24

The MDF has 

my attention! 

By Jason Greer 

I am not a cyclist. Yes I’ve ridden before and know how 

to ride, but I am not a cyclist. However, I am a runner. 

I enjoy being outside and hitting the road with nothing 

but my running gear and determination to not walk at all 

during my run. It’s not always easy and is harder than 

cycling … I’ve got no wheels to freewheel on the downhills, 

and it takes me a lot longer to run 10 km than to cycle it. 

I tell you this because I do sometimes take my legs for 

granted, and although I don’t cycle I still support the cause 

of the MDF by running for those who can’t. 

My family aren’t runners, or cyclists for that matter. My 

5-year-old daughter, however, is now keen to keep me 

company on a little 2 km jog that we do sometimes. My 

son, who’s 3, just wants to run around and destroy things, 

as opposed to keeping in a relatively calm state of mind 

as a runner would do when out for a jog. My wife, well, 

she keeps active enough by teaching dance. She’s a world 

champion dancer who owns a dance studio called iDance, 

in Weltevreden Park, and she teaches four times a week. 

No, she has still not taught me how to dance, but I think 

that this has something to do with my two left feet, which 

are good only for running, on the road and after my kids. 

As a TV presenter for the past 12 years, I’ve had the 

opportunity to take part in hundreds of different events and 

causes throughout South Africa, but it’s the MDF that caught 

my attention. The nature of the organization as well as the 

members and enthusiastic support garnered by others shows 

that the MDF really does care about those individuals who 

cannot use their muscles to run, cycle, walk or even eat. I was 

present at the handover of two wheelchairs last year by the 

MDF, and it was such a moving moment watching the two 

children take hold of their brand new wheelchairs, thanks 

to the continued support of the MDF and its sponsors. 

Let’s continue the work together! 

MDF Gauteng would like to thank Jason Greer for being 

our ambassador and always being there to lend a helping 

hand. 

25

People 

My journey 

from powerless 

to powerful 

By Dave Lukas, 

Lake in the Hills, Illinois 

Three years ago, my life was changed forever. 

Three years ago, I walked out of a doctor’s office, 

got in my car and sobbed. Three years ago, my 

image of what my future looked like was shattered. 

Today, my life is still changed forever. Today, I leave 

doctor’s offices feeling confident and grateful. 

Today, my image of my future looks uncertain, but 

there is so much hope. 

Three years ago today, I was diagnosed with 

facioscapulohumeral muscular dystrophy (FSHD). It 

took me a long time to remember how to pronounce 

it, spell it, and for my phone to figure out it wasn’t 

misspelled. It’s a rare form of muscular dystrophy I 

was born with, a genetic disease. My body produces 

a protein called DUX4 and this protein destroys and 

kills muscle. And like all forms of muscular dystrophy, 

it’s a progressive disease. I will keep losing more 

muscles, and will not get them back. There is no cure. 

But it’s not like the muscular dystrophy you know 

from the Jerry Lewis telethons. FSHD is a much 

sneakier disease. Most of us get diagnosed in our 

mid- to late 20s after years of having something just 

a bit “off” about our bodies that no one seems to be 

able to explain. Most doctors are mystified. 

It’s a slow disease that gradually robs people of 

muscles in their face, shoulders, upper body, and 

legs. It takes away things like being able to reach 

up and wash your hair, being able to get dishes 

down from the top shelf, the ability to smile, and 

other activities most people take for granted. It’s 

a disease people learn to live with by making a 

series of adjustments to do the random everyday stuff. 

For many of us, it progresses to legs and feet and 

begins to weaken and kill the muscles there. About a 

quarter of people with FSHD end up in wheelchairs. 

Fun stuff. 

But those are the facts. Thankfully they aren’t my 

reality now, but they are for so many of my friends 

and others with our disease. 

With hindsight, I see that my journey started in my 

mid 20s, when I noticed I couldn’t raise my arms 

completely over my head. Fast forward 16 years 

and my wife (fiancée at the time) kept saying my 

shoulders just weren’t right. The way I took my shirt 

off wasn’t right. The way I reached for things up 

high wasn’t right. So I saw a local orthopedic doctor 

and he saw the oddities and thankfully paused long 

enough to say, “this isn’t right, I know a doctor you 

should go see, she’s a friend of mine and she might 

know what this is.” 

Enter Dr. Charulatha Nagar, a neurologist at 

Northwestern Medicine. Even typing her name 

makes me cry with gratitude for this woman. She 

is simply the best doctor I have ever come across. 

Even my wife, who knows doctors, agrees with me. 

She saw me, took a look at me, asked me to do 

a bunch of random stuff (walk on my heels, push 

my hand away, purse my lips, to name a few) and 

then sent me for more blood work than I thought 

was even possible. Even the tech was surprised at 

the sheer volume of tests Dr. Nagar wanted to run 

and went to grab extra vials. About a million needle 

and finger pricks later, Brandi and I walked out still 

unsure what was going on, but confident in Dr. 

Nagar. 

26

People 

A few weeks later, we had a return visit to go over 

the results of these tests. That was today, three 

years ago. She informed me that my muscle 

protein levels were eight times higher than normal – 

meaning my muscles were screaming out that they 

were in trauma. That combined with my physical 

examination, Dr. Nagar informed me I had 

facioscapulohumeral muscular dystrophy. She 

needed to confirm with a genetic test, but she 

had studied and worked with patients with 

FSHD in medical school, so she knew the 

disease well and was confident I had it. A 

later genetic test would confirm my diagnosis. 

I really don’t remember what else we talked about in 

her office, but I remember walking out to the car with 

Brandi and feeling overwhelmed with uncertainty. We 

got back into my car and I started sobbing! What 

was my life going to look like now? How soon would 

I lose all the muscle in my body? Would I die 

early? What if I couldn’t see my kids grow up? What 

if I became a burden on my future wife? She had 

already lost one husband to a rare disease. Why does 

she have to care for another? How was that fair? 

Those and many more questions swirled and 

bounced in my head for what seemed like months. 

I really struggled to identify as someone who had a 

disease that would affect me for the rest of my life. I 

struggled with telling people. I didn’t want people to 

treat me differently. I didn’t want people to look at me 

like I was sick or broken. I kept my diagnosis hidden 

from everyone except family and close friends. 

Which is where everyone else came in 

somewhere along the path. They either heard my 

diagnosis from me or heard it from my parents or 

read about a random post here on Facebook. But 

not from me directly. And that’s not fair. I truly 

struggled with telling people and struggled to 

wear the identity as someone who has muscular 

dystrophy. It was a journey to get to the point I’m at 

today. 

Fast forward three years and where am I? I’ve already 

participated in one clinical research study and I’m 

about to start another. I immediately became involved 

in the biggest and most influential charity and research 

non-profit for my disease, the FSH Society. And now 

I’m taking steps to formally establish a national 

chapter through the Society here in the Chicagoland. 

I have a team of doctors and medical professionals 

I trust 100 percent and it brings tears of gratitude 

just to think of them. Which then evokes more tears 

cause I’m one of the lucky ones who didn’t have to 

go through 20 doctors to figure out what I had. I can’t 

tell you the number of stories I’ve read about people 

with FSHD who have gone through doctors upon 

doctors and they still don’t have a doctor who knows 

how to treat them. I don’t have the words to express 

my gratitude for people like Dr. Nagar. Hence all the 

grateful, grateful, grateful tears. 

There is hope on the horizon for a cure, as well as 

treatments to stop the progression of the disease. 

We know what causes the disease, which is a huge 

step. There are so many teams all over the world 

that are working on cures right now. And with the 

FSH Society leading the way with both their awareness 

efforts and advancing of research grants, I’m 

confident we’re going to get there. 

The Society has a goal of having a disease-modifying 

drug on the market by 2025 and is confident this 

is achievable! To think that my world was rocked in 

2015 and ten years later we could have a cure or 

progression stopper for my disease… holy #%&! 

This disease has taught me to be grateful for the 

little things. There are so many things I’m still able to 

do (like run) that so many others with FSHD cannot. 

There may come a point in my life when I can’t do 

those things anymore. So I do them while I can to the 

best of my ability. 

This isn’t a quick story and it’s one I’ve needed to 

tell for some time. It’s important because while this 

disease doesn’t define me, it’s a part of me and my 

story. 

Hard challenges are put in front of us all the time 

and we have the choice to look at them as obstacles 

or fuel to propel you further on your path. My FSHD 

diagnosis laid me low for a while. It left me on the 

side of the road beat up and broken. But I stood up, 

dusted myself off, wiped away the tears, and used 

this diagnosis and this disease as fuel to make me 

a better person. This disease won’t break me. I’m 

stronger than FSHD. 

Three years later, I find myself with a greater sense 

of power and purpose with FSHD. I may not know 

what lies ahead for me, but all I have to do is look 

to my wife and my three children to remember who 

else I’m fighting for. All I have to do is connect and 

reach out to all the friends I’ve met who have FSHD 

to remember the collective strength we have. 

Going from powerless to powerful has been quite the 

journey. I’m not broken, I’m not helpless. 

I am humbled, honored and encouraged. 

I AM stronger than FSHD. 

Article online at: https://www.fshsociety.org/2018/05/ 

my-journey-from-powerless-to-powerful/ 

27

Research 

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

Update on Myonexus’ LGMD gene therapies 

By Jenny Sharpe 

Published 25/06/2018 

Myonexus Therapeutics gave an 

update on its LGMD gene therapy 

programmes at Sarepta’s recent 

Research and Development (R&D) 

day. The two companies formed a 

partnership in May. 

Myonexus are currently developing 

gene therapies for five types of LGMD 

(see below). All of these share a similar 

design, where the desired gene is 

packaged into a type of adeno-associated 

virus (AAV). This shared design 

means that learnings from one study 

will help to inform another. 

LGMD 2E (MYO-101) 

Myonexus plan to initiate a phase 

1/2a trial at Nationwide Children’s 

Hospital, USA, testing MYO-101 in 

Q3 2018. This will be a randomised, 

placebo controlled, double blind 

trial recruiting nine participants. 

The trial will also have a ‘crossover’ 

design, where all participants 

assigned to the placebo will get to 

have the gene therapy at some point. 

LGMD 2D (MYO-102) 

Following positive results from a 

small safety trial completed in 2017, 

Myonexus are planning to test MYO- 

102 in a phase 1/2a trial at Nationwide 

Children’s Hospital, USA. This will 

be a randomised, placebo-controlled, 

double blind trial recruiting nine participants. 

The trial will also have a 

‘crossover’ design, where all participants 

assigned to the placebo will get 

to have the gene therapy at some point. 

LGMD 2C (MYO-103) 

Myonexus are currently testing 

MYO-103 in preclinical safety studies 

using mice. The company is expecting 

to meet with the US Food and Drug 

Administration (FDA) very soon to 

discuss its plans for MYO-103. 

LGMD 2B (MYO-201) 

MYO-201 is currently being 

evaluated in a phase 1 trial at 

Nationwide Children’s Hospital, 

USA, where it was injected into the 

feet of six participants (intramuscular 

delivery). Myonexus reported that, 

so far, MYO-201 appears to be safe 

and can increase dysferlin protein 

levels. The company is planning a phase 

1/2a trial testing intravenous delivery 

of MYO-201(an injection into the 

bloodstream, rather than the muscle). 

LGMD 2L (MYO-301) 

Myonexus is currently testing MYO- 

301 in a mouse model of LGMD 2L. 

This will help to determine how well 

it works and whether it is safe to be 

tested in humans in future. 

Article online at: https://www.musculardystrophyuk.org/news/news/ 

update-on-myonexus-lgmd-gene-therapies/ 

Positive interim results from Duchenne gene therapy trial 

By Sofia Nnorom 


Sarepta Therapeutics has announced 

positive preliminary results from its 

ongoing Duchenne gene therapy trial at 

the company’s R&D day. 

28 

The U.S. trial is assessing AAVrh74. 

MHCK7.microdystrophin – an adeno-associated 

virus carrying a shortened 

version of the dystrophin gene 

(micro-dystrophin) into the body. The 

first trial participant received the therapy 

in January 2018 and since then 

three more boys have been treated. 

The company released interim 

results based on the first three treated 

children. Muscle biopsies taken 90 

days after the treatment showed that 

all three boys had a significant increase 

in the dystrophin protein. In addition, 

all of them had a significant reduction 

in Creatine Kinase (CK) levels – a

marker for muscle damage. So far there 

have been no serious safety concerns. 

In a press release, Dr Jerry Mendell, the 

study’s principal investigator, said: 

“I have been waiting my entire 49-year 

career to find a therapy that dramatically 

reduces CK levels and creates significant 

levels of dystrophin. Although the 

data are early and preliminary, these results, 

if they persist and are confirmed 

in additional patients, will represent 

an unprecedented advancement in the 

treatment of DMD.” 

We are delighted by this news and 

Research 

look forward to seeing how the trial 

progresses – we will keep you updated. 

Article online at: https://www.musculardystrophyuk.org/news/news/positive-interim-results-from-duchennegene-therapy-trial/ 


Latest results from MTM gene therapy trial 


Audentes Therapeutics has provided 

an update on its ‘ASPIRO’ gene 

therapy trial. The study is evaluating the 

safety and efficacy of AT132 in young 

children with X-linked myotubular 

myopathy (X-MTM). 

Since releasing initial data from 

ASPIRO, the company has treated 

three more children with AT132. So 

far, six children have been treated and 

monitored for up to 24 weeks. 

The majority of treated participants 

have shown improvements in neuromuscular 

and respiratory function. 

One child is now able to stand without 

support and no longer needs to use a 

BiPAP ventilator. 

Dr Suyash Prasad, Senior Vice 

President and Chief Medical Officer at 

Audentes, said in a press release: 

“We continue to be highly encouraged 

by the profile of AT132 observed 

to date in the ASPIRO study. Patients 

treated in the initial cohort continue to 

make advancements in neuromuscular 

and respiratory function, highlighted 

by the fact that our earliest treated 

patient has now been ventilator 

independent for over eight weeks.” 

Whilst the efficacy data is promising, 

there have been a few safety 

concerns. An independent committee 

will now review all of the data and advise 

Audentes on testing higher doses 

(dose-escalation). The company 

expects to provide an update on its 

plans in the third quarter of 2018. 

Article online at: https://www.musculardystrophyuk.org/news/news/latestresults-from-mtm-gene-therapy-trial/ 

Sarepta and Myonexus form partnership 



Sarepta Therapeutics has announced 

it is partnering with Myonexus 

Therapeutics – a gene therapy company 

developing potential treatments 

for limb girdle muscular dystrophy 

(LGMD). Myonexus’ pipeline 

includes five different LGMD gene 

therapies, three of which are currently 

being evaluated in clinical trials. 

Sarepta is developing potential therapies 

– including gene therapies– for 

Duchenne muscular dystrophy. This 

new partnership between Sarepta and 

Myonexus brings together expertise 

that will help to advance LGMD gene 

therapy research. 

Article online at: https://www.musculardystrophyuk.org/news/news/sarepta-and-myonexus-form-partnership/ 

FSHD drug receives fast track designation 

By Sofia Nnorom 


Acceleron Pharma has announced 

the US Food and Drug Administration 

(FDA) has granted Fast Track 

Designation to ACE-083, for the treatment 

of facioscapulohumeral muscular 

dystrophy (FSHD). This status will 

help speed up the development and 

regulatory review process of the drug. 

ACE-083 is currently being evaluated 

in a Phase 2 trial in individuals with 

FSHD. 

Article online at: https://www.musculardystrophyuk.org/news/news/fshddrug-receives-fast-track-designation/ 

29

The View from Down Here 

The Other Corner, Sedgefield 

By Hilton Purvis 

In an earlier edition of our MDF Magazine I wrote a review 

of the Guba's De Hoek B&B in the winemaking region of 

Robertson, which offered not one but two wheelchair accessible 

rooms for disabled travellers. This edition allows me to 

review yet another establishment which provides additional 

accommodation for us. This time it is in our favourite Garden 

Route town of Sedgefield, where Lilith Seals offers not only 

the accessible house "The Kingfisher Corner" but also the 

appropriately named "The Other Corner" situated just next 

door! 

Are we seeing the beginnings of a movement here folks?! 

(Cue Arlo Guthrie's "Alice's Restaurant".) What a pleasure 

to have a choice of accessible accommodation. What an even 

greater pleasure it would be for us to find this movement taking 

hold and spreading to other tourist destinations. Quite 

clearly it makes economic sense since both Guba's De Hoek 

and The Kingfisher Corner have been running successfully 

for many years. 

We are growing to like Sedgefield more and more with each 

visit, and having an establishment like The Other Corner 

makes visiting so much easier! The location of the town 

on the Garden Route provides a good base from which to 

explore the regional coastline, as well as further north to 

Knysna and south to George. As mentioned in my previous 

article, it is also home to the Wild Oats Farmers Market held 

every Saturday morning. It is a large, busy and active genuine 

farmers market providing fresh produce, food, beverages, 

arts and crafts. The market is accessible with assistance (the 

car guards will direct you to parking places which are close 

to the action) provided you can manage undulating grass and 

hard ground under your wheels. I have seen more than one 

motorised wheelchair trundling around the market on previous 

visits, so clearly it is possible even for quite profoundly 

disabled individuals. 

Another Sedgefield institution worthy of a visit is the famous 

fish shop "Mr Kaai" on the Main Road, just next to the one 

and only traffic robot in the town. We enjoyed, without doubt, 

the finest seafood platter we have ever eaten at Mr Kaai, sitting 

outside the restaurant underneath the canvas awning. 

You really cannot drive through Sedgefield without stopping 

in at Mr Kaai! It's as simple as that. 

But before this article makes a right-hand turn into the food 

and beverages department, let’s return to the task at hand, 

which is to tell you about wheelchair accessible The Other 

Corner. 

Built on a hillside overlooking the Sedgefield estuary, The 

Other Corner is a large and spacious wooden bungalow located 

just below The Kingfisher Corner and just above a lower 

house which serves as the home of the owner. Depending on 

one's level of mobility it might be worthwhile checking with 

the owners which unit would be most suitable, since each 

offers access and amenities which are slightly different. The 

Other Corner is accessed via a gentle ramp and provides a 

large open living area, two bedrooms, an accessible kitchen 

(which is most unusual) and two accessible bathrooms, one 

with a shower and one with a bath. 

The view from the veranda provides a spectacular panorama 

of the estuary which will have you spending a lot of time 

finding reasons to be sipping gin and tonics on lazy summer 

afternoons! 

The Kingfisher Corner / The Other Corner 

36 Kingfisher Drive, Sedgefield 

Tel/Fax: +27 (0) 44 343 1715 

Email: lseals@arms.co.za 

Web: 

https://www.sa-venues.com/visit/theothercorner/ 

http://www.capestay.co.za/kingfishercorner/ 

30

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. 

Are neuromuscular disease therapies improving? 

It seems that every day when we open a scientific journal, or even a newspaper, there is an article 

referring to a new ‘cure’ for a genetic disease. Many of these are for neuromuscular diseases. The 

last year or so has seen licensing of a new drug for spinal muscular atrophy patients and a number 

for Duchenne muscular dystrophy (DMD) patients. In the last month there have been new articles raising hope for a DMD drug trial 

being reinstated after some adverse reactions in one of the first few patients on the trial and a new approach to a drug therapy for facioscapulohumeral 

dystrophy (FSHD). 

There is no question that we are entering a new era in therapies for genetic diseases. Rapidly advancing technologies are being developed which allow 

us to understand disease at a much finer level. Once we have this level of understanding, we can develop novel approaches to try to reverse the disease 

process. New techniques potentially allow us to edit faulty genes and replace them with normally functioning copies, add missing proteins into people’s 

cells, block certain unwanted production of protein in cells, and so forth. 

Importantly, the development of new therapies is a long and challenging process. It may take many years from the first understanding of a potential 

therapeutic approach to the development of a drug. Before any new drug can be marketed it has to go through many levels of safety and efficacy 

checking. Many drugs that are developed never get to the end of these tests, as they are shown either to be harmful or to have no effect. They may also 

have other effects, which could not initially have been predicted. These tests are often known as phases of a drug trial. A drug has to be shown to have 

significant beneficial and therapeutic effects but cannot have such severe side effects that it makes the individual sicker than if they were without it. 

The risks and benefits have to be carefully weighed. Trials have to be done on large groups of patients, so genuine scientific effect can be proven – this 

is always a challenge for rare diseases as recruiting enough patients can be difficult. Also, the regulatory authorities usually want trials done in adults 

rather than children first, a real challenge for childhood-onset genetic conditions. 

Phase 1 trials usually test the drug on healthy volunteers to try to determine the effects of different dosages and side effects. In Phase 2 the drug is given 

to a small group of patients to see whether it has any positive effect. Usually some patients are given the real drug and others a placebo. If effects seem 

positive, then a Phase 3 trial tests the drug over a longer period on a bigger group of patients for safety and efficacy. Phase 3 trials are still relatively 

short, six months to two years, and so some subtle effects may be missed and long-term benefits and side effects may not be observed. These are often 

only identified once the drug is marketed. From a patient perspective, new drugs offer new hope, but trials can be very frustrating for patients waiting 

for new therapies to appear. 

Doctor’s 

IGNITE DMD is a drug trial aiming to test the safety, tolerability and effectiveness of a drug called SGT-001 in ambulatory and non-ambulatory DMD 

patients. The trial uses a virus to try to get a modified version of dystrophin into muscle cells of boys with DMD. This is the protein usually missing in 

DMD. Importantly this drug is different from others developed for DMD in that it is not dependent on the exact causative mutation and therefore has 

potentially broader scope to help more people with DMD. Drugs currently available are suitable for use in only a small percentage of boys with DMD. 

The trial was halted for over a year as there were some adverse reactions, and boys now on the trial have to get additional medication to prevent or 

reduce these reactions. The trial expects to get some results in 2019. 

The second important news release refers to researchers deepening their understanding 

of FSHD. The mechanism causing FSHD is extremely complex and still relatively poorly 

understood. An improved understanding of a number of other proteins that are involved in 

controlling the critical protein, DUX4, have been discovered. These may be easier to regulate 

than the key protein itself and may be targets for therapy. No drugs have yet been developed, 

however, so this does not offer immediate changes to FSHD therapy. 

To conclude, we are in an era of rapid knowledge and technology development. This offers 

enormous hope for improved understanding of neuromuscular disease and potential for the 

development of new and innovative therapies. We are likely to see many new drug trials, with 

some becoming effective new therapies in the not too distant future. 

31

Sandra’s thoughts on… 

Beating the winter “blues” 

By Sandra Bredell (MSW) 

Winter is not a season enjoyed by all people. Some 

people get anxious, as it can be a challenge to stay 

warm and well nourished. For some, it just is a grey, 

miserable time making them to feel sad or depressed 

and to lack energy. In contrast, some people really enjoy 

wintertime, which can be understood, looking at areas 

like Sutherland, Ceres and the Matroosberge, where 

snow paints a winter fairytale picture. We are grateful 

for the snow, as it provides water to the drought-stricken 

areas. Although winter is a season to be enjoyed, a lot 

of people seem to look at it as a season to be endured. 

Let us look at some things we can do to gain a more 

positive wintertime mindset. 

1. Do things in winter that you cannot really do in 

summer 

Enjoy hot beverages like hot chocolate and relax by the 

fire wearing nice snuggly clothes. “Focus on the joys of 

winter”, says motivational coach Robert Ashton, author 

of The life plan: 700 simple ways to change your life for 

the better (Foster, 2018). 

2. Focus on getting more light 

There seem to be a lot of truth in light-therapy, as it has 

a positive effect on the mood. So, open those blinds 

and curtains of your house and let the light in. Sit closer 

to the window and embrace the sunlight. Do not sit indoors 

all day; try to spend some time outside the house, 

even if just to have your coffee on the porch. 

3. Continue to do your exercises 

Continue with exercises, stretches and massages – this 

works like a natural antidepressant. Do not stop what 

you love to do in winter. 

4. Wear clothes that are appropriate to winter 

Invest in clothing that keeps you warm, dry and cosy. 

Rather wear bright colours than brown, grey and black 

as this can also lift your mood. According to Leatrice 

Eiseman (in Brucculieri, 2017), there seems to be a link 

between colours and emotions. Bright and warm colours 

tend to add to a happy feeling. 

5. Listen to uplifting music 

Listen to your favourite music as often as you like. 

Cheery music improves the mood. Listen to upbeat 

tunes while doing exercises and stretches. When you 

want to listen to music, you need to find the right song 

for what you need in that specific moment. According to 

Bergland (2012), you need to ask yourself: "Does this 

song make me feel like the glass is half empty or full? 

Does this song make me feel energized or depressed? 

What state-of-mind do I want to be in right now?" 

6. Staying hydrated during winter 

Even in winter it is important to stay hydrated, and sufficient 

water intake is beneficial for your body, skin and 

muscles. Cold air contains less moisture than warm air. 

One does not feel as thirsty in winter and tends forget to 

drink water. Urination increases in winter and therefore 

the intake of water is necessary. 

7. Healthy vs comfort food 

Winter comfort food is yummy, but in moderation. Good 

nutrition and a healthy body and mind go hand in hand. 

Planning your meals is very important, especially at 

those times when you just feel like snuggling up under 

a warm blanket and are tempted to rely on take-aways 

and comfort food. Do not cut down on fruit and vegetables, 

as your body needs the vitamins they provide. 

Invest in healthy soups and stews, which can be frozen 

in portions and easily be warmed up. The correct diet 

can also help to raise serotonin levels. Adding one of 

the following serotonin boosting foods to each of your 

meals might just do the trick: bean sprouts, asparagus, 

sunflower seeds, cottage cheese, pineapple, spinach 

and bananas. These are listed by Dr Caroline Longmore, 

author of The Serotonin Secret (Foster, 2018). 

Also add nuts, seeds and green leafy vegetables to 

your meals as these are rich in magnesium and help 

promote sleep. When you feel like having fries, rather 

opt for sweet potato chips. During the colder months, up 

your intake of fish, eggs and cheese, which are rich in 

vitamin B12. Tomatoes, citrus fruit and red peppers are 

good choices as they contain a lot of vitamin C. 

8. Catch up on reading 

This is a great time to catch up on that reading you have 

planned to do for a while now. Snuggling up and reading 

a book is a perfect pastime for the cold winter days. 

Make a list of which books you would like to read during 

winter. This adds to the excitement and makes you 

look forward to the opportunity. You could pick themed 

books, for example with a winter or summer theme or 

linked to a specific topic. 

9. Reward yourself 

Plan something you will enjoy either as a treat for yourself 

or with friends. Go and see a movie, attend a concert, 

visit a restaurant to lift your mood when you start 

to feel down. If you cannot make all of this come true 

this winter, start a wish list of things to do for next winter. 

10. Remember to laugh 

“Laughter is the sun that drives winter away from the 

human face” (Victor Hugo, quoted in Shein, no date) 

References: 

Bergland, Christopher. 2012. “The neuroscience of music, 

mindset, and motivation.” Psychology Today, 29 December. 

https://www.psychologytoday.com/us/blog/the-athletesway/201212/the-neuroscience-music-mindset-and-motivation. 

Brucculieri, Julia. 2017. “How adding bright colors to your 

wardrobe can help you beat the winter blues.” HuffPost, 20 

November. https://www.huffingtonpost.co.za/entry/bright-colors-beat-the-winter-blues_us_5a0f1373e4b0e97dffed0723. 

Foster, Helen. 2018. “10 ways to beat the winter blues.” Psychologies, 

14 January. https://www.psychologies.co.uk/10- 

ways-beat-winter-blues/. 

Shein, Elizabeth. No date. “10 cool ways to beat the winter 

blues.” CTRI – Crisis & Trauma Resource Institute. https:// 

blog.ctrinstitute.com/10-cool-ways-beat-winter-blues/. 

Whiting, Kate. 2017. “Healthy winter diet: The best foods to eat 

to stay well this winter.” BT. http://home.bt.com/lifestyle/health/ 

healthy-eating/winter-diet-to-stay-healthy-11364216640411.

Cape Branch 

Cape Town Aquarium Outing 

On Wednesday, 16 May 2018 our Duchenne muscular 

dystrophy children from Astra School enjoyed a fun 

day at the Cape Town Aquarium. As a group we got 

to explore the various exhibitions and even to watch 

feeding times of the penguin colony, stingrays and 

turtles! What a joy it was to enjoy this lovely day 

together. 

33

Cape Branch 

Adult Support Group 

This last quarter we have had some wonderful Adult 

Support Group meetings and are so thrilled when 

our members find time to meet once a month. We 

enjoyed a wonderful coffee morning at the Stay Easy 

Hotel, where members had the opportunity to catch 

up and relax. 

Additionally, a meeting dedicated to information about 

physiotherapy and recommended stretches for 

muscular dystrophy was well attended and thoroughly 

enjoyed. It was wonderful to share, learn and discuss 

information on this topic. 

Physiotherapy session at the branch 

34

Cape Branch 

Winter Warmer Drive 

Winter has arrived again, and with it the 

cold! Many thanks to the Rotary Club for 

donating a number of blankets and beanies. 

These have been distributed to a number of our 

affected children and sent to Astra School to help 

keep the hostel toasty and warm. 

This lovely donation also allowed us to hand out 

blankets to some of our adult members at our 

Stay Easy Hotel coffee morning outing. 

Pictured: Wally Baird, Win van der Berg and 

Colin Jacobs 

IN MEMORIAM 

Peter van Eck 

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

say goodbye to Mr Peter van Eck, who sadly passed away on 13 May 

2018. Our sincere condolences to his family. He will be deeply missed 

at our Adult Support Group meetings, and his brave and kind nature will 

never be forgotten. 

Dennis Trotskie 

It is with great sadness that we bid farewell to Dennis Trotskie, who 

passed away on 28 April 2018. Our sincere condolences to his family. 

We will dearly miss this beautifully determined and kind young man. 

Your family is in our thoughts. 

Clayton Smith 

Our deepest condolences to the Smith family on the passing of their son, Clayton, on 1 April 2018. 

Your family is in our thoughts. 

Condolences to family and friends. Ed.

Gauteng Branch 

Art From The Heart 

Are you an art lover? Do you need something for that open spot on your wall? 

Art from the Heart is your answer! 

We have many art & décor items for sale and all funds go towards helping 

those with muscle-wasting conditions. 

Request our catalogues from Robert Scott at mdfgauteng@mdsa.org.za or 

call us at 011 472 9824. 

We would like to thank Supreme Mouldings (Pty) Ltd for their amazing 

contributions towards this project. 

Pictured: Mr. Scott Hansell, Group Financial Manager, Supreme Mouldings 

Thank you, DStv for airing our advertisements about 

muscular dystrophy. 

We are most grateful for your support. 

Photography/Videography 

36 

• Annual reports • Golf days 

• Awards 

• Entertainment 

• Conferences • Team building 

• Product launches 

info@strikeaposephotography.co.za www.strikeaposephotography.co.za 

Call: Dee-Ann 082 412 9650


Handover of motorised 

wheelchair to 

Jason Howieson 

A motorised wheelchair with a specialised backrest 

was purchased and presented to Jason Howieson 

at the Brewers Fish & Grill restaurant in Rietfontein 

on Sunday, 15 April 2018. His mother, Sharon, and 

brother Stephen were also present. Certificates of 

appreciation and trophies were also presented to 

the group of cyclists who rode from Johannesburg to 

Cape Town to generate awareness and funds. 

Kevin Nkwenya says 

thank you 

I would like to thank the Rachel Swart 

Fund and the Muscular Dystrophy Foundation 

Gauteng, for my brand new 

motorised wheelchair. It is now easier 

for me to move around at home and 

around the community I live in. 

I am very happy and grateful for the 

support. Thank you. 

37


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. 

Thank you, e-TV for airing our advertisements 

about muscular dystrophy. 

38 

We are most grateful for your support.

Huge Thank-You to 

National Lottery 

KZN Branch 

We at the Muscular Dystrophy Foundation, KZN 

Branch express our sincere gratitude to Lotto. 

Because of their generous support the following was 

made possible: 

Several of our affected members received new 

motorised and manual wheelchairs. They were all 

happy, excited and thankful to Lotto for making this 

all possible. 

Thank you, Lotto! 

Pictured: Debbie Goldstone, Sandy Smith 

(grandmother), Kevin Smith (grandfather), Reece 

Smith 

Pictured: Razina Fayers (mother), Uwais Fayers, 

Raj Mahadaw 

Pictured: Back: Zuziwe Cele (physiotherapist at 

Mason Lincoln School), Debbie Goldstone. Bottom: 

Mondli Cele and Menzi Khathide 

Pictured: Kuben Pillay (father), Noel Pillay, Michelle 

Pillay (mother), Kayden Pillay (brother) and Kaylin 

Pillay on wheelchair 

Pictured: Raj Madadaw, Rowan Dewnunen on 

wheelchair, Kandice Gounder (mother) 

39

Pictured: Hambasani Dlamini, 

Gertrude Dlamini (mother) 

Pictured: Veronica Houghton and 

son, Hewitt Singh 

Pictured: Zuziwe Cele 

(physiotherapist at Mason Lincoln 

School), Debbie Goldstone, 

Mondli Cele and Menzi Khathide 

Dhruv Dukhicall gets to be 

mobile with big smiles 

On Saturday, 12 May 2018, Dhruv Dukhicall, aged 

8 and affected with spinal muscular atrophy (SMA), 

received his first motorised wheelchair. He was all 

smiles and ecstatic when we placed him in his new 

wheelchair. 

A huge thank-you to his sponsor for generously 

offering to purchase the motorised wheelchair. It is 

most appreciated. 

Pictured: Mukesh Dhukicall, Shakti Dhukicall, Rajesh 

Balram, Neil Goldstone, Front: Dhiyana Dhukicall and 

Dhruv Dhukicall (in wheelchair) 

A mother who was God’s 

love in action 

Born with spinal muscular atrophy, never walked a 

day in her life, but a tower of inspiration to those 

whose lives she touched – my mother, Veronique 

Hilary Connor. 

A go-getter, strong willed, always smiling no 

matter what, lover of God, lover of people and 

the outdoors, especially the North Beach, 

Durban area. She was a woman of great 

determination and strength, definitely ahead of her 

time, with immense knowledge and many talents, 

who made people see the person not the wheelchair. 

40

She loved reading, cooking, sewing, music and 

chatting to all she met. 

Mum greeted us each day with a big smile, a smile 

that was infectious, a smile that warmed the hearts 

of those who did not even have the challenge that 

she had. 

She loved the word of God and lent a helping hand 

without hesitation to those in need. No mountain 

was too high, no valley too deep; with God on her 

side nothing was impossible for her…. 

Her greatest enjoyment was going on the People 

Mover bus into CBD area. She was so excited 

when the bus service began, as it was created for 

wheelchairs and she was able to go into town 

and buy the little goodies she sold in the area of 

North Beach, Durban. Unfortunately the ramps 

were not maintained, and rather than hurt herself 

she stopped using the mover bus. She had a little 

business of her own selling novelties for kids for 

many years in the North Beach area and at some 

centres. This gave her a sense of independence 

and kept her going, as it gave her the opportunity 

to meet more people, whom she loved. She looked 

forward to going out each day, and when it rained it 

would be a big disappointment as it was a so-called 

“wasted day” in her eyes. She was a familiar sight 

at North Beach in her brightly coloured clothes, 

always neatly dressed, and with her bubbly 

personality. This attracted many customers, who 

eventually became friends. 

Children were drawn to her as well, with her laid-out 

baskets filled with child friendly goodies. 

Everyone knew her, and if you dared to go 

walking anywhere with her, you would have to be 

prepared for a longer walk than normal, as she 

would stop and speak to each and every person she 

met on the way. She was very popular; people loved 

her as she was always smiling, regardless of her 

circumstances, and she always looked to inspire 

someone along the way. She never let her disability 

get in the way of her goals, and people would be 

amazed by this and always tell her she inspired 

them. Children loved her, and she loved children. 

Mum gave children a whole new way of looking 

at disabled people as they saw not only the chair 

but also her positive, loving and caring spirit. 

Veronique never let spinal muscular atrophy define 

her limits. And so with this attitude she achieved many 

of her goals in life, including having a child after 

doctors said it was impossible; she did it with faith 

and was the best mum one could ever ask for. I 

never saw the chair but a mother in a million. She got 

married, had a little business of her own, and bought 

a home of her own, which many people thought was 

impossible. As she would say, when man says it’s 

impossible, God makes it possible. 

Mum was very independent from a very young age, 

although losing mobility in her arms in 2013 hit 

hard, as she was no longer able to do all the things 

she could before, like cooking, sewing, feeding 

herself, putting on her own make-up, brushing her 

own hair. This took a big part of her independence 

away, but she never gave up, kept positive, never 

complained, and kept on going. She still tried to do 

her usual things with a little extra help. She used 

the little mobility remaining in one hand to guide 

her electric wheelchair when going to the beach, 

running her business and selling her items. If her 

hand slipped off the lever that controlled her 

motorised wheelchair, she would ask people to help 

reposition her hand and go happily on her way. She 

went shopping, and much more, all on her own, 

regardless of her challenge; nothing stopped her. 

An inspiration to all who have so much yet complain, 

a gift to us all. A person who accepted God’s will 

and made the best of life. She raised funds for the 

Muscular Dystrophy Foundation for many years and 

loved doing so, as she enjoyed speaking to people 

and educating them about the disease, which many 

people are not aware of. Mum’s dreams came true 

when she went on the MSC Sinfonia ship in 2016, 

2017 and 2018. She loved the beach and the water 

and dreamed of being on or in it one day; going on 

the MSC fulfilled part of that dream, and we were 

looking forward to another trip at the end of the year. 

But on 21 March 2018, mum struggled to breathe 

and was rushed to hospital, where she was in ICU 

for 15 days with double pneumonia and other 

complications. Doctors said her muscular 

dystrophy had deteriorated so badly that her 

body was too weak to fight. Mum kept strong and 

fought so hard that even when the doctors gave 

us no hope mum proved them wrong. She was 

supposed to go on a ventilator, but she fought 

against it; the doctor was amazed and said she 

no longer needed a ventilator and was doing so 

well that the negative feedback from doctors 

suddenly changed to positive; they could not 

explain her improvement. Unfortunately on 5 April 

2018 mum took the last breath of her amazing life. 

Veronique will always be remembered for her 

amazing life and the many people she touched. 

North Beach no longer hears the clicking sound of 

her wheelchair, but her spirit will always be in the 

hearts of those she touched. 

I would like to thank the Muscular Dystrophy 

Foundation for their continuous support over 

the years and kind gesture during mum’s 

passing. The Foundation sponsored her electric 

wheelchair a couple of years back, which made 

a major difference in her life. Her chair was her 

life. When her batteries died, the Foundation 

assisted again. Mum loved being part of the 

Muscular Dystrophy Foundation and raising funds 

for them; it was also her way of saying “Thank You”. 

Rest in peace, Beloved Soul. 

Your beloved daughter, Bianca Connor 

Condolences to family and friends. Ed.

MDF Magazine Newsletter Issue 56 August 2018

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