MDF Magazine Issue 68 Aug 2022

MAGAZINE 

Winter Issue 68 

August 2022 

Little Heroes of Hope

Strategies for companies to 

integrate people with disabilities 

INSPIRING MOTION 

TOWARDS A MORE 

INCLUSIVE AND 

ACCESSIBLE WORLD 

A tailored holistic solution for companies 

to integrate people with disabilities in a 

measurable, sustainable, and empowering 

way. 

We have developed a proven road map that 

can be easily implemented in any 

organisation. 

Awareness and inclusion training, toolkits, 

research and development strategies, 

physical and online accessibility audits, 

policy and process development, and 

recruitment are integral milestones in our 

impactful program. 

Smergos was founded by Nicole Vergos and Nick Smit. 

Specialised products designed 

by people with disabilities for 

people with disabilities 

Both Nick and Nicole have dealt with their own 

disabilities for most of their lives and overcome 

numerous challenges along the way. 

Having first-hand experience living with disability, we 

understand the physical, social and psychological 

challenges that people with disabilities face. 

With this in mind we create opportunities that uplift 

and empower individuals while breaking down the 

barriers between those with and those without 

disabilities. 

www.smergos.com 

Smergos was launched to the public at 

the end of 2015 with a range of bags that 

fit neatly on any wheelchair, giving the 

user a safe and easily accessible way to 

carry their belongings. 

We extended the product range to include 

a raincoat poncho and accessories for 

wheelchair-bound athletes. 

Our products have been adapted to cater 

for people with other types of disabilities.

CONTENTS 

MDF MAGAZINE 

MDFSA News 

07 Duchenne Muscular Dystrophy Webinar 

08 Little Heroes of Hope 

09 Muscle Riders 2022 Time to Practice! 

10 I run for those who can’t ... one step at a time 

11 Ekurhuleni Road Show 

» p.08 

MD Information 

12 Novel promising biomarker correlates with the severity of 

facioscapulohumeral muscular dystrophy 

14 New research shows certain exercises can help with muscular 

dystrophy 

15 New 'cocktail' drug could benefit up to 45 per cent of patients 

with Duchenne muscular dystrophy 

16 Genetic testing – Muscular dystrophy 

TRAVEL 

18 Karoo with a View 

» p11 

» p.10 

Regular Features 

20 Sandra’s thoughts on… preparing your body for winter 

22The View from Down Here 

24 Doctor’s Corner 

25 Random gravity check 

» p.20 

Published by: 

Muscular Dystrophy Foundation of SA 

Tel: 011 472-9703 

Fax: 086 646 9117 

E-mail: national@mdsa.org.za 

Website: www.mdsa.org.za 

Publishing Team: 

Managing Editor: Gerda Brown 

Copy Editor: Keith Richmond 

Publishing Manager: Gerda Brown 

Design and Layout: Divan Joubert 

Cover photo of Cayden Fourie, Dantè Fourie 

and Juanru Roodt 

Future Issues: December 2022 

(Deadline: 1 November 2022) 

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.

MDF Notice Board 

To learn more about the Muscular 

Dystrophy Foundation of South 

Africa Foundation, please visit our 

website at www.mdsa.org.za. 

Subscription and contributions 

to the magazine 

We publish three issues of MDF 

Magazine a year. 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. 

How can you help? 

Contact the National Office or your 

nearest branch of the Muscular 

Dystrophy Foundation of South 

Africa to find out how you can help 

with fundraising events for those 

affected with muscular dystrophy. 

NATIONAL OFFICE 

E-mail: gmnational@mdsa.org.za 

Website: www.mdsa.org.za 

Tel: 011 472-9703 

Address: 12 Botes Street, Florida 

Park, 1709 

Banking details: Nedbank, current 

account no. 1958502049, branch 

code 198765 

CAPE BRANCH (Western Cape, 

Northern Cape & part of Eastern 

Cape) 

E-mail: cape@mdsa.org.za 

Tel: 021 592-7306 

Fax: 086 535 1387 

Address: 3 Wiener Street, 

Goodwood, 7460 



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 



code 192841 

Pretoria Office 

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 



code 198765 

A support group brings people together who are 

going through, or have gone through, similar experiences; 

it provides them with an opportunity to share 

personal experiences and feelings, coping strategies, 

or firsthand information about diseases or 

treatments (Mayo Clinic, 2020). 

If you want to join a support group, please contact 

Gerda Brown at gmnational@ mdsa.org.za or 011 

472-9703. 

· We have the following support groups: 

· Spinal Muscular Atrophy (SMA) 

· Congenital Muscular Dystrophy 

· Limb Girdle Muscular Dystrophy 

· Duchenne Muscular Dystrophy 

· Facioscapulohumeral Muscular Dystrophy 

SUPPORT GROUPS 

4

MUSCULAR DYSTROPHY FOUNDATION OF SOUTH AFRICA 

ANNUAL GENERAL MEETING 

Dear member, 

Notice is hereby given of the Annual General Meeting of the Muscular Dystrophy Foundation to be held 

on Saturday, 17 September 2022 via MS Teams or Zoom. The link will be circulated in due course. 

The national AGM will be held via MS Teams after the branch AGMs. 

RSVP: Please let the relevant branch know by 12:00, Friday, 9 September 2022 whether you will be able 

to attend. 

If you are not able to attend the AGM, please nominate a proxy on the form below. Kindly post or email 

the completed form to the relevant branch. 

• National Office: email Sarie at nationalfinance@mdsa.org.za. 

• Cape Branch: email Dianne at capemanager@mdsa.org.za. 

• Gauteng Branch: email Rothea at gmgauteng@mdsa.org.za. 

• KwaZulu-Natal Branch: email Nomfundo at projectskzn@mdsa.org.za. 

Registration and networking start at 9:30 and the meeting starts at 10:00. Reviews of the year’s 

activities will be discussed, and the audited financial statements will be available for perusal. A new 

executive committee will also be elected. You are cordially invited to nominate new members in the 

space provided on the proxy form. Kindly post or email the completed form to the relevant branch. 

The previous minutes and the audited financial statements will be available on request from our offices. 

Should you require any further information, please contact the relevant branch. 

We are looking forward to seeing you at the AGM! 

Kind regards 

MDFSA Executive Committee 

5

I/We will be attending the Annual General Meeting on Saturday, 17 September 2022. 

Name: 

Number of people attending: 

Nominees for Executive Committee: 

________________________________________________ 

________________________________________________ 

________________________________________________ 

________________________________________________ 

________________________________________________ 

If you are unable to attend, please fill in the following section: 

PROXY FORM 

I, …………………………………………………………………………., being a Member of the FOUNDATION, hereby 

appoint ……………………………………………………………………, or failing him/her, the Chairperson at the said 

meeting, as my proxy to vote for me and on my behalf at the Annual General Meeting of the 

FOUNDATION to be held on 17 September 2022 and at any adjournment thereof. 

Unless otherwise instructed, my proxy may vote as he/she thinks fit. 

Name: 

Signature: 

Date: 

___________________________________________ 

___________________________________________ 

___________________________________________ 

CALENDAR 

Charcot-Marie-Tooth Month – August 

Spinal Muscular Atrophy Month – August 

MD Awareness Month – September 

Casual Day – Friday, 2 September 

World Duchenne Day – Wednesday, 

7 September 

Duchenne Webinar – Saturday, 

10 September 

Annual General Meeting – Saturday, 17 

September Limb Girdle Day – 30 September 

947 Kids Race – Saturday, 12 November 

947 Ride Joburg cycling event – Sunday, 

20 November 

6


Duchenne Muscular Dystrophy Webinar 

Join us for an insightful webinar about the newest developments and treatment 

for Duchenne muscular dystrophy. The speakers will be experts in the fields of 

paediatric neurology, pulmonology, cardiology, physiotherapy and psychology. 

To attend, please RSVP to Sarie Truter at nationalfinance@mdsa.org.za. 

7


Little Heroes of Hope 

Muscle Riders is the Gauteng Branch of MDFSA’s 

charity cycling team that everyone is familiar with 

by this stage. However, there is a little group of 

heroes that some of you may be less familiar with. 

For many years now, there has been a group of 

amazing children who take part in the 947 Kids’ 

Race. They have been affectionately named our 

“Little Heroes of Hope”. They have truly become 

an inspiration for many who follow our organisation. 

Seeing children at such a tender age, as 

young as 2 years old, demonstrate a willingness 

and keen interest to do all that they can to assist 

those less fortunate is something for us to be truly 

thankful for. 

One young cyclist by the name of Juanru (9) has 

been with the team for many years along with so 

many others. When asked by his mom, Litza, why 

he takes part in the kids’ ride every year, he had 

the following to share: “I am riding for children 

who can’t walk and raising funds to help them.” 

He went on to add that “we need to always be 

there for other people and help where we can, by 

doing that I am spreading God’s love”. He also 

made sure to let us know that the race is just so 

much fun as well! 

The Kids’ Race will be taking place on Saturday, 

12 November, at Steyn City and is open for ages 

2–10 years. For anyone interested in joining the 

Little Heroes team this year, having a fun day out 

and assisting MDF with awareness and fundraising, 

please contact team leader Robert Scott by 

email at mdfgauteng@mdsa.org.za. 

8

National MDFSA News 

MUSCLE RIDERS 2022 

TIME TO PRACTICE! 

Muscle Riders 2022 

Time to Practice! 

One of the most valuable fundraising platforms 

available to charity organisations is the 947 Ride 

Joburg cycling event, which takes place every year 

in November. Our team, “Muscle Riders”, have taken 

part in nine events over the years, and for 2022 

we are going big! We are proud to announce that 

for the 2022 event we are partnering with a new 

organisation called “The Practice” (www. thepracticesa.co.za), 

and they have prepared the following 

introduction: 

The Practice is excited about our partnership with 

the Muscular Dystrophy Foundation and the Muscle 

Riders for the 947 Ride Joburg 2022. 

Through this partnership we will be able to he 

lp MDF and the Muscle Riders with expertise and 

guidance from our team of respected internationally 

certified cycling coaches and instructors. The 

project will see us launching Muscle Rider specific 

training programs, group rides and skills sessions to 

thoroughly help and prepare all the riders that sign 

up in support of this incredible foundation. 

The delays in mass participation events during the 

previous 2 years impacted the fund raising ability of 

MDF through the Muscle Riders and we hope our 

commitment and experience will help MDF dramatically 

increase the number of Muscle Riders and 

their personal fund-raising activities from now until 

the events in November. 

We encourage you to recruit your friends and family 

to ride for this worthy cause, regardless if you’re 

planning on riding the short or long road race or 

mountain bike events. Our coaches are all looking 

forward to helping the Muscle Riders achieve their 

947 Ride Joburg goals. 

You will receive certain benefits when joining our 

team, such as a preferential start time on race day as 

well as having your race packs collected by us so that 

you can avoid the long lines and crowds. In addition, 

thanks to our new partnership with The Practice, 

you will receive access to unique training and coaching 

plans through the Training Peaks app. These programs 

will be available to you free of charge and will 

be running in the lead-up to race day. 

If you wish to join the Muscle Riders in 2022, contact 

Robert Scott (email: mdfgauteng@mdsa. org.za) for 

more details. 

9


I RUN FOR THOSE 

WHO CAN’T ... ONE 

STEP AT A TIME 

By Robert Scott 

Naomi Janse van Rensburg is a longtime supporter of the 

MDF. She has said: “I am a strong believer and 

always like to do my small part in life to make a difference 

in the lives of those in need.” 

She has joined our new “Hustle 4 Hope” campaign on 

www.givengain.com and said: “I can use my 

running for a positive purpose to generate awareness and 

gather donations for those affected with 

Muscular Dystrophy. I am raising funds in support of the 

MDF so that they can continue the invaluable 

work that they do and so that they can continue with it well 

into the future.” 

In a little over four months she has completed multiple 

marathons, including the Two Oceans 

Ultramarathon, which has seen her run a staggering 768 

km so far, with more coming every day! 

Please open your hearts and help Naomi to reach her target 

of ten thousand rand. You can do so via the 

webpage at: https://www.givengain.com/cc/i-run-forthose-who-cant-----one-step-at-a-time/ 

10


Ekurhuleni Road Show 

By Beauty Mathebula 

On 20,21 and 22 April 2022 a road show event was held in Katlehong North at the Greenfields Clinic and Palm Ridge 

Clinic. The targeted population per road show was 200, but members of the community came in great numbers. Approximately 

600 people were reached, 300 of whom were estimated to have been at Greenfields alone. Muscular 

Dystrophy Foundation social workers networked with other organisations and great relationships were formed and 

are now beneficial to MDF members. 

Social workers and social auxiliary workers networked with more than fifteen organisations, including the Public 

Employment Services of the Department of Labour. Muscular Dystrophy Foundation members who are seeking employment 

can now send their applications by email to ambrose.semenya@labour.gov.za, and the applications will be 

registered on their database and will be linked with employers. 

The community was very interested in learning about muscular dystrophy. Our social workers did a presentation 

about muscular dystrophy, and community members queued up to come and learn more about muscular dystrophy 

at our tent, where more information was provided. Magazines, pamphlets and other goodies were given to community 

members, who were encouraged to contact the Foundation and to share their newly acquired knowledge with others, 

including their local health workers. 

11


NOVEL PROMISING BIOMARKER 

CORRELATES WITH THE SEVERITY OF 

FACIOSCAPULOHUMERAL MUSCULAR 

DYSTROPHY 

REVIEWED BY EMILY HENDERSON IN NEWS MEDICAL LIFE SCIENCES,15 FEBRUARY 2022 

a number of companies in the race to develop such treatments. 

However, the extreme variability and the unpredictable 

progression of FSHD complicate the development 

of sensitive outcome measures and biomarkers, 

which can impede the development of new therapeutics. 

The emergence of the unified model for FSHD, i.e., abnormal 

toxic expression of DUX4 and its target genes, 

brings hope for the development of therapy to treat this 

disease, as it provides therapeutic targets." 

Sabrina Sacconi, MD, PhD, Lead Investigator, Université 

Côte d'Azur, Centre Hospitalier Universitaire de Nice, 

Hôpital Pasteur Centre, and Fédération Hospitalo-Universitaire 

Oncoage, Nice, France 

There is currently no effective treatment for facioscapulohumeral 

muscular dystrophy (FSHD), one of the most 

common neuromuscular diseases, which is caused by 

an abnormal expression of the transcription factor DUX4. 

Investigators have now identified a novel promising biomarker, 

interleukin-6 (IL-6), that correlates with the severity 

of FSHD. This has the potential to clinically manage 

the disease and help to assess the efficacy of potential 

FSHD treatments. Their study is published in the Journal 

of Neuromuscular Diseases. 

“FSHD has a high degree of clinical variability and a lack 

of treatment for patients. There are currently 

Given the central role of inflammation in FSHD pathophysiology, 

investigators retrospectively measured the 

levels of 20 pro-inflammatory and regulatory cytokines 

in serum cytokines in 100 adult patients with FSHD1 (51 

males and 49 females) to identify potential severity biomarkers. 

Among all the cytokines tested, IL-6 was the 

only one with a concentration correlating with clinical severity: 

the more severe the disease is, the more elevated 

the IL-6 level is. FSHD patients displayed overall IL-6 levels 

more than twice as high as controls, and patients with 

milder disease exhibited lower IL-6 serum concentration 

than those with severe muscular weakness. These 

results were confirmed in vivo in an FSHD-like mouse 

model, suggesting that IL-6 can be used as a FSHD severity 

biomarker. 

"Altogether, the results show that IL-6 levels can be used 

as a potential new disease severity serum biomarker 

for FSHD1 patients," said Dr. Sacconi. "This is a crucial 

milestone in the search for an effective FSHD therapy. 

The identification of serum IL-6 as a potential severity 

biomarker will help us assess the efficacy of newly developed 

compounds and stratify patients in natural history 

12


and clinical trials. It brings hope for the development of 

therapies to treat this disease." 

SHD is one of the most common muscular diseases in 

adults. The disorder gets its name from muscles that are 

affected in the face (facio), around the shoulder blades 

(scapulo), and in the upper arms (humeral). Other arm 

and leg muscles may be affected in the course of the disease. 

The degree of muscle weakness may be asymmetrical, 

differing from one side of the body to the other. The 

most common form, called FSHD1, is usually inherited 

as an autosomal dominant genetic condition that results 

in DUX4 retrogene toxic expression in skeletal muscles. 

Article available at: https://www.news- med ic a l . ne t/ ne ws/ 2 0 2 2 0 2 1 5 / No ve l- promising-biomarker-correlates-with-the- 

severity-of-facioscapulohumeral-muscular- dystrophy.aspx 

S 

LUTIONS 

www.wheelchairs.co.za 

Medical 

13


NEW RESEARCH SHOWS CERTAIN EXERCISES CAN HELP 

WITH MUSCULAR DYSTROPHY 

BY UNIVERSITY OF MAINE, 24 MARCH 

only one — the endurance neuromuscular stimulation 

(eNMES) — improved all three, as long as it was accompanied 

by a certain antioxidant, heme oxygenase, and a 

receptor called integrin alpha7. 

Muscular dystrophy is a debilitating disease that causes 

the weakness and breakdown of skeletal muscles that 

progressively worsens over time. According to a team of 

University of Maine researchers, certain activities may 

help strengthen muscles affected by muscular dystrophy 

— and they figured it out by stimulating zebrafish and 

watching them work out. 

Zebrafish are an effective test model of muscular dystrophy 

because of the molecular similarities between zebrafish 

and human muscles. Zebrafish can also be bred 

with a mutation that closely models Duchenne muscular 

dystrophy, a severe type of muscular dystrophy that affects 

young boys. 

Zebrafish can’t lift weights, though, so UMaine researchers 

used a process called neuromuscular electrical 

stimulation (NMES), which stimulates specific nerves to 

elicit muscle contraction. The researchers designed four 

NMES regimens and named them after four common 

weight lifting routines: power, strength, hypertrophy and 

endurance. The zebrafish were then put into an underwater 

3D printed “gym” made up of tunnels and electrodes, 

and the researchers analyzed their 

skeletal muscles to see how they had changed. 

The study found that while each of the NMES weight 

lifting “routines” affected the zebrafish neuromuscular 

junction morphology, swimming and survival differently, 

“eNMES is defined by high-frequency, low-voltage pulses, 

which is similar to a high-repetition, low- weight workout 

that we would do in the gym. The longstanding consensus 

in the muscular dystrophy field is that minimizing 

resistance training preserves muscle strength and mass 

because it lowers the risk for muscle damage. However, 

our data suggest that a certain level of NMES-induced 

activity is actually beneficial for overall muscle health,” 

says Elisabeth Kilroy, first author of the study who conducted 

the research for her Ph.D. at UMaine. Kilroy is 

now the director of the neuroMuscular ObserVational 

Research (MOVR) at the Muscular Dystrophy Association. 

The study was published March 24, 2022, in the journal 

ELife. 

The research suggests that the right type of resistance 

training might be beneficial to human patients with muscular 

dystrophy. There is also potential for NMES to 

improve mobility and strength in patients with muscular 

dystrophy, though not much is known about applying the 

technology this way. 

“I think the most exciting aspect is that we established a 

model for neuromuscular plasticity in healthy versus diseased 

muscle, and this model will allow us to elucidate 

mechanisms that could be the basis for potential therapeutics 

in the future,” says Clarissa Henry, professor of 

biological sciences, director of Graduate School of Biomedical 

Science and Engineering, and principal director 

of the Henry Lab. 

14 

Article available at: https://umaine.edu/news/blog/2022/03/24/new-research-shows-certain-exercises-canhelp-with-muscular-dystrophy/


NEW 'COCKTAIL' DRUG COULD BENEFIT UP TO 45 PER CENT OF PATIENTS WITH 

DUCHENNE MUSCULAR DYSTROPH 

BY UNIVERSITY OF ALBERTA IN SCIENCE DAILY, 23 FEBRUARY 2022 

Insert image 26 as headerInsert image 27 as background 

A new "cocktail" drug being developed at the University 

of Alberta could provide an effective and economical 

treatment to lessen symptoms for up to 45 

per cent of patients with Duchenne muscular dystrophy 

(DMD), a chronic muscle-wasting disease. 

A team led by researcher Toshifumi Yokota, a professor 

of medical genetics in the Faculty of Medicine & 

Dentistry, created -- and is now testing -- a cocktail 

of six treatments which would mean nearly half of patients 

with DMD could be treated with just one drug. 

DMD affects six of every 100,000 people -- usually 

boys. People with DMD have various mutations in the 

body's largest gene, dystrophin, which is a protein that 

cells need to stay intact. Dystrophin has 79 sections, 

or exons, and if even one is missing the body cannot 

produce the protein and the muscles degenerate. 

There is no cure for DMD, but a new class of drugs 

uses an approach called "exon skipping." It acts as 

a Band-Aid over the missing exons, so the body 

can skip over the damaged instructions and produce 

the protein needed to rebuild muscle tissue. 

The U.S Food and Drug Administration has already 

approved other similar treatments, including viltolarsen, 

which is based on Yokota's research. Each, 

however, has limited applicability. This new "cocktail" 

treatment could help many more patients. 

"Each of the previously developed exon-skipping molecules 

has been able to treat only around 10 per cent of DMD 

patients because they have different mutations to their 

exons in different locations within the gene," said Yokota, 

who is also the Friends of Garrett Cumming Research & 

Muscular Dystrophy Canada Endowed Research Chair. 

"Our approach is to skip over 11 exons all at 

once, which would allow us to treat approximately 

45 per cent of patients," he explained. 

The research was published this week in the Proceedings 

of the National Academy of Sciences.Yokota's team tested 

the new synthetic drug in patient-derived muscle tissue 

in test tubes and in mice. They found signs of dystrophin 

production, muscle building and improved heart function. 

DMD often leads to extreme skeletal body weakness, yet 

most patients actually die from heart failure. Existing exonskipping 

treatments do not penetrate the heart muscle -- a 

limitation this new cocktail addresses, according to Yokota. 

"Our cocktail combines the antisense oligonucleotides 

with a new peptide which allows the 

drug to penetrate the heart muscle," he said. 

The cocktail still needs to undertake toxicology testing 

and go through the regulatory steps to conduct 

clinical trials. Yokota and his colleagues recently 

launched a company to help commercialize the drug. 

Article available at: https://www.sciencedaily.com/ 

releases/2022/02/220223164606.htm 

15


GENETIC TESTING – MUSCULAR 

DYSTROPHY 

BY NHS 

Genetic testing may be useful for prospective parents who have a family history of muscular 

dystrophy (MD) and are worried about passing the condition on to their children. 

Speak to your GP, who can refer you for genetic screening 

and counselling. 

Genetic testing can be used to: 

• identify the cause of muscle problems (to make a diagnosis) 

• identify carriers of the condition (people who don't 

have MD but have the potential to pass it on to their 

children) 

• determine a prenatal diagnosis (when a foetus is tested 

during pregnancy) 

Genetic testing is likely to be used more often in the 

future, because knowing the precise cause of MD may 

determine what type of treatment will be most effective. 

Identifying carriers 

Some types of MD can be carried without causing clear 

signs of the condition. This applies to recessive inherited 

disorders, sex-linked conditions and even some dominant 

conditions. Genetic testing can determine who's 

carrying the disorder. 

For example, a woman with a family history of Duchenne 

MD but no symptoms herself may be carrying the gene 

that causes it. DNA can be taken from cells in her blood, 

saliva or tissue and compared with a sample from a family 

member who has the condition, to find out if she's carrying 

the faulty gene. 

If you or your partner are a carrier of MD and are at risk 

of passing the condition on to your child, your genetic 

counsellor will discuss your options with you. 

16


Read about the causes of MD for more information about 

how MD is inherited. 

Prenatal diagnosis 

Genetic testing can also be used for prenatal diagnosis. 

This is when a baby is diagnosed with MD before birth 

using tests carried out during pregnancy. You may be 

offered these tests if you're pregnant and there's a possibility 

that your unborn baby has MD. 

There are two main ways of performing a prenatal diagnosis. 

One is chorionic villus sampling (CVS), which 

involves removing tissue from the placenta for analysis, 

usually after 11 weeks into the pregnancy. 

The other method is amniocentesis, which isn't usually 

carried out until 15 to 16 weeks of pregnancy. A needle is 

inserted into your abdomen (tummy) so that a sample of 

the amniotic fluid that surrounds the foetus in the womb 

can be taken. Amniotic fluid contains cells that have 

been shed by the foetus. 

Both CVS and amniocentesis carry a small risk of causing 

a miscarriage. 

The cells from the foetus can be tested to determine 

whether they have the genetic mutation responsible for 

MD. If they do, the baby is likely to develop MD at some 

stage after birth. 

If this is the case, your genetic counsellor can discuss 

your options with you, which will often include terminating 

the pregnancy. Such decisions can be very difficult 

and personal. 

Be aware that there are limitations to this kind of diagnosis. 

Tests can give misleading or unexpected results. 

It's important to discuss prenatal testing and what the 

possible results mean before going ahead with the procedure. 

Expert genetic counselling can be very helpful in 

these circumstances to help people make the decision 

that's right for them. 

Article available at: https://www.nhs.uk/conditions/muscular-dystrophy/genetic-tests/ 

17

TRAVEL 

Karoo with a View 

By Hilton Purvis 

Prince Albert is a small town in the Western Cape, located 

on the southern edge of the Great Karoo, at the 

foot of the Swartberg mountains. 

Founded in 1762 and originally known as Albertsburg, 

it was renamed Prince Albert in honour of Queen Victoria's 

consort, Prince Albert of Saxe-Coburg. 

Prince Albert lies at the foot of the spectacular Swartberg 

Pass. The Swartberg Pass is part of a UNESCO 

World Heritage Site and provides travellers with spectacular 

views and an experience never to be forgotten. 

The town showcases beautifully preserved Victorian, 

Karoo, Cape Dutch and uniquely gabled buildings, 17 

of which are Provincial Heritage Sites. It is home to artists 

and crafters and purveyors of fresh produce and 

good food, being well known for its sun-ripened fresh 

and dried fruit, especially figs and apricots and Karoo 

lamb, olives, olive oil and handmade cheeses. In 2012 

Prince Albert was voted the Western Cape winner in 

the prestigious “Town of the Year” competition. 

The Prince Albert district has a rich heritage of Later 

Stone Age sites, stone tools and rock paintings, many 

of which date back 25 000 years. The Khoikhoi had 

practised pastoralism (a form of animal husbandry 

with a mobile aspect), being ever in search of fresh 

grazing and water for their herds of sheep and goats. 

The name Karoo is derived from a Khoikhoi word “Karusa”, 

meaning “dry arid place”. 

We had travelled to Prince Albert three years earlier, 

found it interesting, and earmarked it for a follow- up 

visit, but then COVID intervened and put all of our 

18

TRAVEL 

plans on ice. With the lifting of restrictions we were finally 

able to take up our booking late in 2021. Reaching 

Prince Albert via the Swartberg Pass provides a dramatic 

introduction as one slowly meanders down the 

gravel road, initially with huge vistas across the vast 

countryside, and later flanked on either side by towering 

cliffs. It is a tremendous visual experience and needs 

to be absorbed slowly. Give yourself sufficient time to 

soak up the incredible scenery, stopping wherever possible 

for some really special panorama photographs. 

Your camera will be kept busy! 

We found ourselves returning to the pass each evening 

we stayed there, before sunset, armed with a flask of 

coffee and some snacks. It is just a few minutes outside 

of the town, quiet and peaceful, and lit by the golden 

early evening sunshine as it dips down over the horizon. 

On more than one occasion we were joined by 

the local hyraxes and klipspringers as they scampered 

around the rocks surrounding us. It became our “Karoo 

Sundowner”. 

Prince Albert provided us with the perfect base for exploring 

all the wonders of the Swartberg, Gamkaskloof, 

Meiringspoort, the Cango Caves, Seweweekspoort and 

the Gamkapoort Dam. Each is within an easy day's 

drive, getting you back in time for those sundowners 

and the spectacular Prince Albert sunsets. We city 

slickers have forgotten what the sky looks like at night. 

It is another world, and fortunately one which can be 

appreciated in these country towns. We particularly enjoyed 

the drive through Meiringspoort, another spectacular 

mountain pass, but this time on a fully tarred road, 

which is a pleasure to drive if you can keep your eyes 

off the incredible mountainsides around you! 

kitchen even sports a level of wheelchair access with 

space provided under the working counter for those in 

a seated position. Nothing is too much trouble, and the 

hosts Howard and Marion Mollison, go out of their way 

to ensure that guests are relaxed and comfortable during 

their stay. 

The town itself is reasonably accessible, especially given 

that it is over 260 years old, and there is always a 

friendly helping hand when one needs it. We were able 

to enjoy some of the restaurants and galleries with relative 

ease. Prince Albert is a beautiful little country town. 

Our accommodation was at “Karoo View Cottages”, 

which is located on the edge of the town, with a beautiful 

view of the Swartberg mountains. The cottages 

are modern, very spacious and well appointed, with 

easy paved access from the parking bay to the cottage. 

The entire interior is on a single level. The bathroom 

is wheelchair accessible with grab rails and hand 

shower, with adjustable seats available on request. The 

Prosperous, well- kept and welcoming, it is worthy of a 

visit. 

Howard and Marion Mollison Karoo View Cottages, 

Prince Albert Cell: 082 882 5342 

Email: info@karooview.co.za Web: www.karooview. 

co.za 

Keep safe! 

19

Sandra’s 

thoughts 

on preparing your 

body for winter 

By Sandra Bredell (MSW) 

During the autumn and winter seasons people enjoy each 

other’s company by visiting and spending time together 

but with the big difference that these gatherings mostly 

take place indoors. The COVID-19 pandemic alerted us 

all to a few things, namely that it is important to wash our 

hands regularly and efficiently and that viruses spread 

more easily when people are in confined indoor spaces 

without proper ventilation. As the COVID-19 virus with 

its various mutations is still around, and especially as 

we do not know how it is going to progress, let us be 

sure to do what we can to be safe this winter. Here are 

a few suggestions to keep healthy during the colder 

months of 2022. 

1. Vaccinations 

According to Dr Barry Byrne, professor at the University 

of Florida College of Medicine, “it is crucial for people with 

neuromuscular disease and their family members and 

caregivers to get a COVID-19 vaccine, which are proven 

to help protect people from getting sick or severely ill with 

COVID-19 and help protect people around them” (cited 

in Alkon, 2021). If you have any concerns or questions 

or need clarification, please consult your doctor, as it is 

always best to be informed before making any decisions. 

2. Vitamins 

The vitamins usually indicated to be especially important 

during winter are vitamin D, vitamin C and zinc. Vitamin C 

supports the immune system. The vitamin that is known 

for supporting bone health is just as good for assisting 

the immune system. It is especially important in winter, 

when there is an absence of sunlight. With that said, 

during winter it is always a good idea to open the curtains 

or the blinds to let the little bit of sunshine in. Apparently 

vitamin D is also good for enhancing people’s moods 

Zinc is actually not a vitamin but rather a mineral, 

which is also important for the immune function. Our 

goal during the winter months should be to keep our 

immunity system strong in order to fight off any virus 

related diseases. A discussion with your doctor will be 

in your best interest about how to use any supplements. 

Please consult your doctor before taking any supplements. 

3. Exercise and stretching 

Keep to your exercise or stretching routine, whether it is 

chair-based or assisted stretch exercises or even regular 

visits to the physiotherapist. Whatever your regular routine 

entails, keep to it as much as possible. It is good not just 

20

for the body but also for the mind and helps to regulate 

a person’s mood. 

4. Stay warm 

It is advisable to stay warm during the colder months by 

wearing warm clothes. Drinking hot drinks and having at 

least one hot meal per day is advised by nutritionists. It is 

also suggested to keep toes, ears and fingers covered in 

extremely cold weather as they are the most vulnerable 

to exposure. 

5. Hydration and skincare 

A healthy habit for the colder months is to drink plenty 

of water, as it boosts the immune system, assists the 

digestion and keep the skin moisturised. If the skin 

becomes dry, it can cause itching and irritation which 

can lead to cracks in the skin and resulting infection. 

Therefore, moisturising of the skin is very important. 

Maybe switching to a richer moisturiser would benefit 

your skin in winter. 

6. Fruits, vegetables and spices 

Build healthy meals around fresh produce that is in 

season. This is an easy, cheap option. Keep the basic 

food items in your cupboard, refrigerator and freezer to 

help you to get along when it is too cold or rainy to do 

grocery shopping. In winter one needs a lot of nutrients 

and vitamins, which means at least five portions of fruit 

and vegetables. If you do not have fresh vegetables, the 

frozen ones will do just fine. Berries, citrus fruit and apples 

are good sources of vitamin C, whereas eggs, nuts and 

sunflower seeds are rich in zinc. Berries and dark leafy 

greens also contain antioxidants, and therefore spinach 

and broccoli would be good vegetables to add to your diet 

as well. Soups are a great way to add vegetables to your 

diet in winter. As for carbohydrates, rather opt for brown 

bread, oats, brown rice and starchy vegetables. Spices 

do not always refer to “hot” food. Spices like cinnamon, 

ginger, cayenne and turmeric are actually good for the 

body as they have antioxidants that help the body to 

fight winter diseases 

7. Sleep 

It is recommended by doctors to get at least 7 to 9 hours 

of sleep per night during winter. It is further said that 

cutting back on sleep makes it difficult for your body to 

fight winter diseases, so get into the habit of going to bed 

a bit earlier and boost your immune system in this way. 

8. Wash your hands 

Last but not least, even though some of the COVID-19 

regulations have been relaxed, washing of hands is still a 

priority. It is part of basic hygiene and also a very effective 

way to prevent spreading germs. It has been said so many 

times, but still the truth remains that washing your hands 

can save lives this winter. Wash your hands with soap 

and water or clean your hands with an alcohol-based 

gel or sanitiser or wipes. 

I hope you have not been taken by surprise this winter and 

found yourself not fully prepared for the colder season 

of the year. The following websites expand on the tips 

offered in this article to help you stay healthy, safe and 

comfortable in winter. 

1. Age UK. https://www.ageuk.org.uk/ 

2. A Healthier Michigan. Winter Self-Care Guide: Skin 

Health. https://www.ahealthiermichigan.org/ 

3. Bounce Hydration. https://www.bouncehydration.com/ 

4. Canadian Living. https://www.canadianliving.com/ 

5. Driscoll’s. https://www.driscolls.com.au/ 

6. Health One Family Medicine. https://www. 

healthonemedicine.com/ 

Take care and be safe! 

Reference 

Alkon, C. 2021. “Addressing vaccine concerns”. Quest Magazine, October 12. Muscular Dystrophy Association. https:// 

www.mda.org/quest/article/addressing-vaccine-concerns. 

21

WHERE ARE WE GOING? 

Nearly two years ago, and just one month into the coronavirus 

pandemic, I posed a series of questions to a selected group of 

friends regarding when we might decide it was safe enough 

to reintegrate into society, whose advice we would be taking 

to do so, what the criteria would be, and when we thought 

we would begin to participate in seemingly normal activities 

such as having dinner with friends, visiting a shopping mall, 

attending a sports event or going to a movie. 

At that stage the whole phenomenon was very new to the 

entire world. For the purposes of the exercise I deliberately 

steered clear of any conspiracy theories or opinions about the 

international or South African management of the crisis. I 

wanted to try and keep with the practical, day-to-day ideas 

we might have for our lives from then on. We didn't know 

what COVID-19 really was, how it was going to affect us 

physically or impact our daily lives, and how long the entire 

saga was going to last. 

Not much has changed! 

I chose a selected group of friends for a very specific reason. 

Firstly, I considered them all to be educated, intelligent, 

level-headed, thinking individuals. Secondly, all of them, like 

us, were following a strict quarantine regimen. There is no 

doubt that persons living with muscular dystrophy have comorbidities 

and therefore needing to be more vigilant than 

most. My chosen friends all rose to the challenge and didn't 

let me down, coming back with responses that were well 

thought out and challenging. It was an interesting exercise 

in that it highlighted, within the microcosm of maybe 20 

people, how many different opinions one can get from such a 

small group and how varied their responses were. This pretty 

much sums up what 

we have seen during the last two years around the world: 

very different opinions that are often strongly held, with little 

flexibility, even within the same household, community or 

country. 

Government has realised it is impossible to quarantine 

people for an extended period of time. My comment at the 

time was that the lockdowns would be reduced to their lowest 

levels and the decision-making as to how and when we would 

emerge into our new normal worlds would then effectively 

be handed over to you and me. I asked at the time what sort 

of criteria we saw ourselves using to determine if we felt safe 

enough to venture out. 

My concern at the time was that we were painting ourselves 

into a corner. We had gone to extraordinary lengths to protect 

ourselves, but every day that we continued with our quarantine 

our natural immune systems became weaker due to a lack of 

exposure to broader society. This was further exacerbated by 

our washing and cleaning our surroundings more often, and 

the increased use of sanitisers and disinfectants. By the time 

we ventured out we would be vulnerable to any germ or bug 

out there. At some point in the future we were going to have 

to emerge from our burrows and return to our pre-COVID 

normality. What factors would determine when and how that 

was going to happen? 

So how has all of this panned out? Well, judging from my 

circle of friends and a broad range of people I have been 

communicating with during the pandemic, it seems we have 

all created our own Personal COVID Reality and adjusted our 

lifestyles accordingly. It is somewhat disturbing that, within a 

relatively short period, words such as vaccination, lockdown, 

isolation, quarantine, infections and the "new normal" have 

become part of our everyday vocabulary. 

We appear to have all taken the recipe for managing 

COVID-19 and adjusted the ingredients to suit our lives: 

the length of isolation, the level of lockdown, the degree 

of integration, the amount of meeting, the regularity of 

sanitation, the appropriateness of mask wearing, who we 

meet, and where we meet 

- all ingredients of our daily "Living with COVID" cake. 

By adjusting each of these, with a little pinch here and a 

teaspoonful there, we make the cake sweeter for ourselves. 

This is a very human thing to do. History is full of examples of 

us, as a species, not tending to follow instructions very well, at 

least not for an extended period of time. 

22

There is still a great deal of the unknown about our immediate 

past and present, and of fear and concern for the future, yet 

we have learnt a great deal during the last 23 months. We have 

learnt that for every vaccination there is an anti-vaccination, 

for every lockdown there is a fishing rod, for isolation there 

are Zoom and Skype and WhatsApp, for quarantine there is 

an otherwise unused hotel 

room, for infections there is quarantine, and the "new 

normal" is a moving target as we go round and round! We 

would not have understood any of this two years ago, but now 

it is part of our everyday lives and conversations. 

to follow protocols also exhibits a history of recovering from 

seemingly disastrous times. There is little doubt that life as 

we knew it before will never be quite the same ahead, since 

every day is a new day. In his song "Baltimore", Roy Buchanan 

thanks a man for his advice and is sure it will help him out if 

yesterday ever comes by again. 

That sums up a great deal of what has transpired, but for 

tomorrow our "Living with COVID" cakes are going to be 

what we choose to make of them. 

Keep safe everyone 

Where are we going? The same human species that struggles 

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23

Doctor’s Column 

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 gmnational@ mdsa.org.za 

What is gene therapy? 

Gene therapy is a technique that modifies a person's genes or 

genetic material to treat or cure disease. Gene therapy has the 

potential to increase or restore function in affected tissues or cells 

over a long period of time and may enable a patient to manage 

his or her disease without the need for ongoing treatments. Gene 

therapies can work by several mechanisms. These need to be 

tailored to the individual disease and often to the specific diseasecausing 

mutations present. The broad principle would be to recover 

the function of critical proteins that are encoded by a gene. 

\For some diseases the best treatment option may be gene 

transfer therapy by which a diseasecausing gene is replaced 

with a healthy copy of the gene, so that a missing protein is 

produced. In other cases a gene that is not functioning properly 

may need to be inactivated to prevent production of an incorrect 

protein. Alternatively, the therapy can introduce a different gene 

that provides instructions for a protein that helps the cell function 

normally and bypass the genetic fault. In these therapies, the faulty 

gene is not altered in the individual’s DNA. 

Genome editing is a newer technique that may potentially be used 

for gene therapy. Instead of adding new genetic material, genome 

editing introduces gene-editing tools that can change the existing 

DNA in the cell. Genome editing technologies allow genetic material 

to be added, removed, or altered at precise locations in the genome 

to correct the genetic fault. CRISPR-Cas9 is a well-known type of 

genome editing. 

Current gene therapy techniques are somatic gene therapy 

performed in cells of the body that do not produce sperm or eggs. 

This mean that the correction could not be passed on to future 

offspring. Germline gene therapy is performed in cells that produce 

eggs or sperm and can be transferred between generations. It 

is still considered very risky as the full effects on other genetic 

material have not been fully determined. 

What is the outcome of gene therapy? 

The potential for gene therapy, gene editing and genetic therapies 

to ameliorate the course of these conditions is extraordinarily 

exciting, but there use, particularly with respect to safety, efficacy, 

cost and equity. There are still many challenges in replacing all the 

faulty genes in an individual and thus completing a cure of the 

disease. Further, often the disease causes irreversible damage, for 

example to muscles. A therapy may thus limit disease progression 

but is unlikely to be curative at present. In addition, many gene 

therapy techniques use inactivated viruses to carry the gene 

into the body. This may result in side-effects related to immune 

response. Some therapies potentially damage other genes 

unintentionally. In addition, vectors that integrate the genetic 

material into a chromosome can cause errors that lead to cancer. 

Researchers are developing newer technologies that can deliver 

genetic material or gene-editing tools more specifically and safely 

without using viruses. The cost and complexity of administration of 

these agents is a challenge for all countries. 

What are some examples of gene therapy 

that are currently available? 

In the case of spinal muscular atrophy (SMA), almost all patients 

have similar genetic faults, making it easier to design therapies 

which will be suitable for the majority of patients. Nusinersen is the 

first drug that was approved for the treatment of all types of SMA. 

It modifies the splicing of SMN2 and leads to an increase of SMN 

protein production. It requires repeated lumbar punctures every 

four months for administration. Another SMA gene therapy makes 

use of an adeno-associated viral vector to introduce a functional 

copy of the SMN1 gene through a single intravenous infusion. 

For Duchenne muscular dystrophy (DMD), patients have many 

different faults. Thus different gene therapy approaches are 

needed, depending on the type and location of the faults present. 

One treatment approach is the use of antisense oligonucleotides 

leading to so-called “exon-skipping”. If used in appropriate patients, 

the skipping of an additional exon can help to restore the reading 

frame and thus allow for the production of partially functional 

dystrophin protein. Ataluren is a specific treatment for premature 

termination codon (nonsense) mutations, which account for about 

of 10% of the DMD cases. Micro- or mini-dystrophins are currently 

in clinical development using AAV-vector based gene therapy to 

replace critical parts of the are significant challenges associated 

with their dystrophin protein. 

24

Random gravity 

checks 

A new lease on life 

By Andrew Marshall 

Howzit guys 

Today I want to tell you about something that has made 

my existence 743.2% easier. My Kensington Expert 

Rollerball Mouse (otherwise known as a Trackball Mouse). 

As the years have gone on, my mouse skills have slowly 

deteriorated, like most other abilities, though not so much 

my fine motor coordination; but because my tendons 

have gradually shortened all over my body, including 

my hands, my little and ring fingers would keep push 

the right click button on a conventional mouse without 

being asked, which would drive me absolutely crackers! 

A rollerball mouse has four programmable buttons, well 

out of the way of my dodgy digits, that do what I want, 

when I need them to. I can use my other hand to push 

them, so my left and right clicks are fully sorted. 

I must admit that it took me a while to get the hang of 

it, because many of our muscles are subconsciously 

activated (autonomic nervous system), and I had to do a 

bit of reprogramming to learn a new way of manoeuvring 

the mouse. But I did it, and the new mouse has also made 

dragging documents and stuff much easier (because 

sometimes even my clicking finger used to slip off the left 

click button as well). It is operated wirelessly (Bluetooth), 

so you can move it around without bothering about cables. 

I can even link my computer or my phone to Google 

Chrome on my TV and use the on-screen keyboard to 

type. Also, having a keyboard with predictive text that 

pops up words in advance makes the whole process a 

the ball sometimes runs away if I’m moving it around or 

if I knock it over or something similar. I suppose that’s 

just part and parcel of our excellent dexterity! But even 

though the ball has bounced on the tiles about seven 

hundred bazillion times it still works perfectly. It’s ceramic 

(I think) and quite a lot like a pool ball, only a little smaller. 

Of course Kensington is not the only brand that makes 

products like this; there are a few other brands that do 

them, with different styles and features. You can get ones 

that allow you to move the ball around with only your 

thumb; others offer different types of tracking wheels, 

and there are wired ones that are a little less expensive. 

I have seen only two that are specifically designed and 

marketed for disabled dudes and dudettes. I find this a 

little perplexing. I would have thought there is a gap in 

the market here, but after pondering a while I can see 

that even though 14% of the world’s population has some 

sort of disability, maybe only a fraction of half a percent 

would need to use something like this. 

I have also seen some other tech stuff that can help with 

digital mobility. Well, I have used the one, and the other 

looks equally cool. About five years ago I downloaded a 

program that tracks your eyes with the camera in the top 

of your laptop and then moves the mouse accordingly. 

But thanks to my involuntary eye muscle movements 

(nystagmus), it wasn’t all that accurate. But this was a 

few years ago, and they may have improved it. It was an 

open source piece of software – Google it and check it 

out. The other is a mouse that looks like quite a fat pen. 

It works like a normal mouse, with a laser going down 

to the pad or desk. One day when my ship rocks up, I’ll 

buy one and review it. Oh, and I’ve also seen one where 

your phone or tablet becomes your trackpad. 

I love to watch different YouTube videos about future 

tech and the future in general. Like Elon Musk’s brain 

computer company, Neuralink, where they stick a chip 

in your grey matter that Bluetooths to your computer or 

phone. This is surely going to be a game-changer. Next 

level, I’m telling you! This kind of thing could allow us to 

move the mouse with our minds. Hell, the mouse and 

keyboard will probably eventually become redundant, 

and we will just have to think about the latest styles 

of shoes (hey don’t judge, maybe that’s my thing) or 

whatever, and the future version of Google will pop up. 

It’s mind-blowing to think about (pun intended). 

Moving closer to the present, Google and Apple glasses 

are in the post. I find this idea exciting, because it means 

you won’t have to have a screen at all. You will just look 

though a pair of specs, and the coolest part is no one will 

be able to see what you’re looking at. These are only a 

few years away. Google has also already released (I think 

overseas) a virtual reality headset that I’m sure is going 

to change gaming and other entertainment drastically. 

I’m sure that this too will only get better over time. Such 

is the nature of technology. 

25

MDF Magazine Issue 68 Aug 2022

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