MDF Magazine Issue 66 December 2021

MAGAZINE 

Summer Issue 66 

December 2021 

Get into the Green Scene 

Good news 

about FSHD 

MDF Rocks 

Creating a 

wheelchair 

friendly home

WHEELCHAIRS 

ON THE RUN 

Roll with us! 

424 Ontdekkers Rd, Florida Park, Roodepoort 1709. 

Tel:011 955 7007/011 674 0547 

http://www.wheelchairs-ontherun.co.za 

Choosing the correct equipment to help in the care of a family member with Duchenne muscular 

dystrophy can be frustrating with many choices available. From the right manual wheelchair that 

can be later used for travel to a durable powerchair designed for the active person to looking for lifts, 

bathing support and walking products the options are many. 

Wheelchairs on the Run offers innovative and superior quality mobility aids for elders as well as 

people with disabilities, which include Electric Wheelchairs. Mobility Scooters, Manual Wheelchairs, 

walking accessories and bathroom aids. 

Quality mobility accessories are a perfect solution for elders and those with disabilities who can 

still walk but need a little assistance in the form of extra support. It is imperative to discuss about 

the mobility problems with a healthcare professional so that you can fi nd appropriate care that is 

required to keep your loved one active and prevent falls and injuries. 

• Manual wheelchairs that are propelled by you, or someone that helps push you. The advantage of 

these chairs is they are generally cheaper, lighter weight and easier to transport. However, using 

the chair may require a certain amount of arm strength and endurance to meet your daily mobility 

needs 

• Power wheelchairs/ Electric Wheelchairs that are controlled through a joystick or alternate control 

device such those controlled through your head, fi nger, or mouth and have many seating options 

including power seating that allows you to raise, lower and recline the seat. 

• Mobility Scooters three- or 4- wheeled for people that have trouble walking. They are controlled 

by a tiller and lever 

Deciding to use a wheelchair or scooter can be an emotional decision and many people are 

reluctant to even think about it. However, if a lack of mobility is preventing you from doing the things 

you enjoy then you should, consider using equipment that helps you with your mobility

CONTENTS 

MDF MAGAZINE 

MD Information 

10 Assistive technology 

12 Will gene therapy change the treatment of muscular 

dystrophy? 

14 Creating a wheelchair friendly home: A complete guide 

»» 

p.10 

People 

23 Good news about FSHD 

24 My journey writing an LGMD inspired fictional novel… so far 

26 A boy with muscular dystrophy was headed for a wheelchair. 

Then gene therapy arrived 

31 My life story 

32 I just want to show other patients that anything is possible 

TRAVEL 

34 Safari tent living 

»» 

p.42 »» 

p.29 

»» 

p.49 

Regular Features 

36 Sandra’s thoughts on being mindful 

38 The view from down here 

40 Doctor’s corner 

41 Resilience through creative arts 

42 Random gravity checks 

Research 

36 Promising research results point to potential cures for two 

44 New discovery could lead to therapies for patients with 

Duchenne muscular dystrophy 

46 Stem cell treatments alleviate muscular dystrophy symptoms 

in compassionate-use stude 

Healthy Living 

48 7 Healthy living tips for wheelchair users 

49 Breathing problems 

50 Physical therapy guide to muscular dystrophies in children 

53 Muscular dystrophy & sexuality 

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 by Sarie Truter 

Future Issues: March 2022 

(Deadline: 1 February 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.

From The Editor: 

Dear reader, 

We are nearing the end of the year and this is the time when we all tend 

to make resolutions and plans for the new year ahead. Before deciding 

on what you want your next year to be like, there are a couple of steps 

you need to take that will help you get started in your new year planning! 

First of all, reflect. Think about the year that is just ending. What did you 

like about it? What made you happy and proud? What made you sad or 

angry or worried? What did you accomplish? 

Then review your reflecting. Is there a pattern or common thread? Can 

the things that made you happy be repeated? Can the things you don’t 

want to experience again be avoided? 

Now that you know what worked and what did not work for you this year, you can look ahead to the year 

to come. Take some time to appreciate all the good things that came your way. Renew your commitment 

to focus on the people and things you care about and that make you happy and proud. Focusing on 

what is really important to you makes it more likely that you will succeed in your resolutions. 

Thank you to everyone who has supported us this year. Without you the Foundation would not be able 

to provide services to our very special members. 

The MDFSA team wish you a magical and blissful holiday. Have a merry Christmas and a prosperous 

new year! 

Until next year! 

Gerda Brown 

4

MDF Notice Board 

Subscription and contributions to the 

magazine 

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. 

If you are interested in sharing your 

inspirational stories, please let us 

know and we'll be in touch to discuss 

this with you. The Foundation would 

love to hear from affected members, 

friends, family, doctors, researchers 

or anyone interested in contributing to 

the magazine. Articles may be edited 

for space and clarity. 

MDF SA database 

If you know people affected by 

muscular dystrophy or neuromuscular 

disorders who are not members, 

please ask them to contact us so that 

we can register them on our database. 

If we do not have your current e-mail 

and postal address, please contact 

your branch so that we can update 

your details on our database. 

How can you help? 

Contact the National Office or your 

nearest branch of the Muscular 

Dystrophy Foundation of South Africa 

to find out how you can help with 

fundraising events for those affected 

with muscular dystrophy. 

Fundraising 

Crossbow Marketing Consultants 

(Pty) Ltd are doing invaluable work 

through the selling of annual forward 

planners. These products can be 

ordered from Crossbow on 021 

700-6500. For enquiries contact the 

National Office by e-mail at national@ 

mdsa.org.za or call 011 472-9703. 

Contact the National Office or your 

nearest branch, or visit our website, 

to find out how you can support the 

Foundation. 

MDF support information 

For more information about the Muscular Dystrophy Foundation, the 

benefits of being a member and details on how to become a member, call 

your nearest branch. 

NATIONAL OFFICE 

E-mail: gmnational@mdsa.org.za 

Website: www.mdsa.org.za 

Tel: 011 472-9703 

Address: 12 Botes Street, Florida 

Park, 1709 

Banking details: Nedbank, current 

account no. 1958502049, branch 

code 198765 

CAPE BRANCH (Western Cape, 

Northern Cape & part of Eastern 

Cape) 

E-mail: cape@mdsa.org.za 

Tel: 021 592-7306 

Fax: 086 535 1387 

Address: 3 Wiener Street, 

Goodwood, 7460 



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 

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 



code 198765 

General MD Information 

Cape Town 

Lee Leith 

Tel: 021 794-5737 

E-mail: leeleith@mweb.co.za 

Duchenne MD 

Cape 

Win van der Berg (Support Group) 

Tel: 021 557-1423 

Gauteng 

Jan Ferreira (Support Group 

– Pretoria) 

Cell: 084 702 5290 

Christine Winslow 

Cell: 082 608 4820 

Charcot-Marie-Tooth (CMT) 

Hettie Woehler 

Cell: 079 885 2512 

E-mail: hettie.woehler@gmail.com 

Facioscapulohumeral (FSHD) 

Gerda Brown 

Tel: 079 594 9191 

E-mail: gmnational@mdsa.org.za 

Friedreich’s 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 

5

National News 

Get into the Green Scene for 

muscular dystrophy awareness 

September was International Muscular Dystrophy Awareness 

Month, which is an important time for all persons affected by 

muscular dystrophy. In order to celebrate this special month, 

the National Office championed an online awareness programme 

called “Get into the Green Scene” – green being the colour of 

the muscular dystrophy ribbon. This campaign is our signature 

social media event to recognise Muscular Dystrophy Awareness 

Month. The campaign is designed to stand out on social media by 

combining the event’s official colour with an eye-catching image. 

Affected members and various corporates participated in the 

campaign by posting their “green” photos on the MDFSA Facebook 

page. This year we were joined by 34 families and corporates. 

A special thanks to all our members, the MDF branches and the 

corporates for taking part in our campaign. 

6

MDF merchandise 

Please email your order and proof of payment to 

gmnational@mdsa.org.za 

Masks are 

available in 

S-M & L-XL: 

R60,00 each. 

Embroidered 

decals: R100,00 

T-shirts are 

available in 

S-M & L-XL: 

R130.00 

Please note that the delivery 

charge is for your cost. 

Mug 

R60,00 each. 

Water bottle 

(500 ml) R50.00 

Notebook 

water bottle 

(380 ml) R100.00 

Bottle opener 

R50.00 

MDFSA would also like to say a big thank you to Tamryn Oosthuizen for 

designing the beautiful artwork for our fundraising campaigns free of 

charge.

National News 

MDF Rocks 

By Sarie Truter 

As part of the “Get into the Green Scene” campaign in September 2021, MDFSA began with the small idea of 

purchasing paint brushes, paint and pebble stones in order to paint the pebbles. Little did we realise that 

this simple task would grow into an unbelievable expression of emotion, with each pebble reflecting the 

innermost feelings of the person who painted it. The campaign became affectionately known as “MDF Rocks”. 

As time went on, it was amazing to see how each pebble came back with its own personality. Some were 

funny, shiny and even plain old silly! 

We could not be more grateful for all who participated, and we now proudly display the entire collection in 

our offices for all to see. We look forward to growing the collection in the years to come, one pebble at a time. 

Muscular Dystrophy Webinar 

The Muscular Dystrophy Foundation of South Africa hosted its first webinar on 2 October 2021. Many 

interesting topics were covered, such as wheelchair maintenance, Covid-19 and vaccinations, as well as 

disability and personal tax. We hope that this will become an annual event where we can continue sharing 

many interesting and informative topics for years to come. 

8 

A BIG thank you to Greg Bouwer and Dominic Brown, who sacrificed their Sunday to instal 

the green lights and hang the banner for Muscular Dystrophy Awareness Month.

National News 

GETTING YOUR COVID-19 VACCINATION? 

THANK YOU FOR PROTECTING YOURSELF AND OTHERS. 

All vaccines approved by South African Health Products Regulatory Authority 

(SAHPRA) have been proven to be safe and effective. 

COVID-19 VACCINE SIDE EFFECTS 

Headache 

Joint & muscle 

Chills 

Tiredness 

Fever Pain & swelling at 

aches 

the injection site 

Some people may have side effects after being vaccinated, here’s what to look 

out for: headache, joint aches, muscle aches, pain at the injection site, tiredness, 

chills, fever and swelling at the injection site. 

These side effects usually last for 2-3 days, you can take paracetamol. Should the 

side effects worsen, you should contact your healthcare provider immediately. 

These side effects show your body is mounting an immune response. 

For assistance and more information on how to register contact the 

COVID-19 toll-free hotline on 0800 029 999. 

GAUTENG 

PROVINCIAL GOVERNMENT 

REPUBLIC OF SOUTH AFRICA 

9


ASSISTIVE TECHNOLOGY 

BY MUSCULAR DYSTROPHY NEWS 

Assistive technology refers to any computercontrolled 

product, gadget, device, application, 

or service that assists, maintains, or improves 

the abilities of individuals with motor disabilities. 

The devices or services are mainly intended to 

improve quality of life so that patients are able to 

live independently. 

The list of assistive devices is ever-growing with the 

advancement of technology, and includes specialpurpose 

computers, mobile devices, mobile apps, 

special switches, keyboards, pointing devices, 

screen readers, and communication programs. 

10


Assistive technology for MD patients 

Many assistive devices and home adaptations can 

be used by muscular dystrophy patients to make 

their life easier. These are summarized below. 

Mouth sticks 

Individuals with a hand disability can use a mouth 

stick, which is placed in the mouth and used to 

type or manipulate a trackball mouse. 

Head wands 

A head wand is a stick that is strapped to the head 

and functions in a similar way to a mouth stick. 

A head wand can be used to type or navigate the 

internet. 

Single-switch access 

Single-switch access is a switch that can be 

operated using the hands, mouth, or legs according 

to an individual’s ability. Special software is used 

to interpret its clicking action, which allows the 

user to perform different actions on a computer. 

Auto-type software 

Auto-type software can facilitate typing by 

suggesting words and allowing the user to choose 

between the words. Voice-to-text software 

can help convert users’ speech into text on the 

computer. 

Sip-and-puff switch 

A sip-and-puff switch is functionally similar to 

the single-access switch. It is able to read an 

individual’s breathing action and convert that into 

on-off signals, which can be used for different 

purposes, such as controlling a wheelchair. 

Oversized trackball mouse 

An oversized trackball mouse is one that is easier 

to operate for individuals with motor disabilities, 

and can be operated with the hands or feet. 

Adaptive keyboard 

An adaptive keyboard is specially designed with 

raised areas between the keys to allow easier typing 

by individuals with unreliable hand movements 

such as tremors or spastic movements. This type 

of keyboard may also include word-completion 

software that allows the user to type with fewer 

clicks. 

Eye-tracking device 

Eye-tracking devices are useful for individuals with 

limited or no control over their hand movements. 

The devices sense and convert eye movements into 

signals, allowing users to operate their computers. 

Smart eyeglasses 

Smart eyeglasses allow users to control Bluetoothenabled 

devices without using their hands. The 

user’s head movements control the cursor on 

the device screen while the mouse is activated by 

biting or pressing the ‘click’ button. 

Voice recognition software 

Voice recognition software recognizes and 

interprets a user’s voice, allowing them to control 

a computer. In this way, the individual can connect 

to appliances, keep shopping lists, play music, or 

shop online. 

Doorbell cameras 

Doorbell cameras are useful for people to view 

their doorsteps from the inside and communicate 

audio-visually with visitors at the door. Features 

can include motion detectors, door-and-window 

sensors, auto locks, and 24/7 live surveillance. 

Automated thermostats 

Automated thermostats can be used to monitor 

and regulate room temperature. 

Smart switches and bulbs 

Smart switches and bulbs are often used to turn 

lights on and off, or to dim them. 

WiFi-enabled control switches can manage 

home appliances and electronics, such as air 

conditioning, from any smart device. 

High-tech kitchen appliances 

Several kitchen appliances are available to help 

individuals with disabilities. For example, a 

floor sensor can trigger doors to open when it 

senses weight above it. Other examples include 

refrigerators with doors that become see-through 

when knocked on, and small devices that can be 

attached to any oven to detect dangerously high 

temperatures. 

Article available at: https://musculardystrophynews.com/assistive-technology/ 

(Last updated: August 7, 2019) 

11


WILL GENE THERAPY CHANGE THE 

TREATMENT OF MUSCULAR DYSTROPHY? 

BY JAIME ROSENBERG 

MHE PUBLICATION, MHE JUNE 2021, VOLUME 31, ISSUE 6 

The jury is still out. Several companies have high 

hopes for candidates under development. 

Thanks to decades of research, new treatments for 

muscular dystrophy that address the disease at the 

generic level may soon change the course of the 

disease and help more people. 

Muscular dystrophy is a rare group of genetic 

disorders that cause muscles to waste away over 

time, creating an inability to move and making 

everyday tasks difficult, depleting quality of life, 

and causing early death. The disorders are caused 

by a defective gene located on the X chromosome 

that controls production of dystrophin, a protein 

complex found in muscle fibers. 

The most common form of muscular dystrophy 

is Duchenne muscular dystrophy (DMD), typically 

seen in boys. Other forms include Becker muscular 

dystrophy, which is similar to DMD but milder, and 

limb-girdle muscular dystrophy, which affects the 

shoulder and pelvic muscles. 

Until recently, managing symptoms was the only 

approach to muscular dystrophy; for example, 

using corticosteroids that can help strengthen 

muscle and slow the disease. But there are risks 

to long-term use of corticosteroids, including 

weakening of bone tissue that increases the risk of 

fractures. 

Now several pharmaceutical companies are 

developing gene therapy for muscular dystrophy. 

Results have been mixed. Earlier this year, Sarepta 

Therapeutics, a biotech company headquartered 

in Cambridge, Massachusetts, that focuses on 

genetic medicine for disorders like DMD, saw its 

stock price drop in half after it revealed that its 

investigational gene therapy for DMD, SRP-9001, 

fell short of its primary end point in a midstage 

trial. Sarepta attributed these results to differences 

in fitness among the patients included in the study, 

and the company released results in May that were 

more promising. 

Sarepta has three products marketed for the 

treatment of DMD: Exondys 51 (eteplirsen), Vyondys 

53 (golodirsen) and Amondys 45 (casimersen). 

These exon-skipping therapies are indicated for 

12


treatment if certain mutations are present and are 

designed to increase the production of dystrophin. 

Sarepta also hopes to regain its muscular dystrophy 

pipeline momentum with a gene therapy for limbgirdle 

muscular dystrophy, which has no approved 

treatments. 

Pfizer is also looking to make headway in DMD with 

its gene therapy, fordadistrogene movaparvovec. 

The company has a phase 3 trial underway and 

plans to enroll patients across 15 countries. The 

FDA is addressing outstanding questions regarding 

the investigational new drug application, says 

Nicole Kjesbo, Pharm.D., leader of the pipeline 

team at Prime Therapeutics, a PBM headquartered 

in Eagan, Minnesota. 

Another gene therapy for DMD is under development 

by Genethon, a French gene therapy company, says 

Kjesbo. In April, the first patient was dosed with 

Genethon’s investigational treatment, GNT 0004. 

Solid Biosciences, a Cambridge, Massachusetts, 

biotech company, also has a gene therapy candidate 

for DMD in early-stage trials. 

Several companies have therapies for muscular 

dystrophy in the pipeline that are not gene 

therapies: 

• Taiho Pharmaceutical, a Japanese company, 

has started a phase 3 trial of its oral treatment, 

pizuglanstat, which is designed to dampen the 

inflammatory response in the muscles of DMD 

patients. 

• Italfarmaco, an Italian company, is testing how 

well givinostat, an oral treatment, promotes 

muscle repair in DMD. 

• FibroGen, headquartered in San Francisco, is 

testing pamrevlumab, a monoclonal antibody 

that inhibits connective tissue growth factor in 

patients with several different illnesses, including 

DMD. 

Article available at: https://www. 

managedhealthcareexecutive.com/view/willgene-therapy-change-the-treatment-ofmuscular-dystrophy- 

13


CREATING A WHEELCHAIR-FRIENDLY 

HOME: A COMPLETE GUIDE 

BY CORCORAN 

A household can find themselves in need of a 

wheelchair-friendly home for a variety of reasons. 

Someone may experience a fall or a household 

member may become disabled due to an accident, 

injury or illness. Additionally, more and more 

households are simply planning for aging in place 

where inhabitants can eventually benefit from 

home modifications to prolong their time in their 

present homes. Even when wheelchair use may 

only be for a few months, there are some steps that 

can be taken to make a home easier to maneuver 

and enjoy. When wheelchair use will be long-term, 

it may be prudent to consider permanent, physical 

changes in a home that can make life easier for 

everyone. 

DIY projects that can make an immediate impact 

and others that may involve more extensive 

renovations. One might also consider the area 

they live in (if they are looking for a place to live). 

For example, if you enjoy spending time outdoors, 

Hermosa Beach has a number of accessible trails 

that may be of interest. 

Creating a wheelchair-friendly home generally 

involves removing barriers and making daily 

necessities more accessible. It can involve a few 

rooms or the entire home. There are some simple 

14


This guide is designed to take a complete look at 

a home, interior and exterior, room by room, and 

area by area, to help households better understand 

what it takes to make a home wheelchair friendly. 

Home Interior Accessibility Tips 

Doors 

Doors can provide a variety of barriers to those in 

a wheelchair including the door's width, the door 

itself, the room it opens to, and the threshold in 

the doorway. 

Wheelchair Accessible Door Width: 

Doorways should be at least 32" wide to 

accommodate passage of a wheelchair. 

Comfortable passage is typically realized at 

36". A wheelchair-friendly home will ideally 

have a minimum of 36" doorways throughout. 

Unfortunately, many residential doorways 

can range from 23" to 30". Door trim and the 

door itself can also impede passage through a 

doorway. When considering the total number 

of doors in a home, this can initially appear to 

be daunting to address, but homeowners have 

options. 

wheelchair over a raised threshold may take 

minimal effort, it can take quite an effort for the 

user on their own in some cases. They may feel 

the need to build momentum in getting over a 

threshold, creating hand injuries or damaging 

door frames. This can be resolved by minimizing 

the height of thresholds or replacing them with 

cushioned ones that will flatten as the chair rolls 

over them. 

A final consideration regarding doors is the door 

handles themselves. Some wheelchair users may 

find it challenging using a traditional doorknob 

due to hand muscle atrophy or their ability to 

reach. This barrier can be minimized through 

use of lever-style door handles. 

Lighting 

An often overlooked aspect in creating a 

wheelchair-friendly home is lighting. It helps to 

understand that household lighting is generally 

designed for those who have the ability to stand 

or walk, and that this design can cause a variety 

of issues for those in a wheelchair. 

• Installing offset hinges — These allow doors to 

swing clear of the doorway adding perhaps up 

to an inch of clearance. Sometimes referred to 

as "Z" hinges, these can be relatively easy and 

inexpensive to install and create just enough 

space to accommodate a wheelchair. 

• Removing doors or trim — In many cases, 

doors may simply be removed to provide 

enough clearance. Doors may be replaced by 

curtains or other options for privacy. In some 

cases, removing door trim may also improve 

passageway clearance. 

If the above options don't provide enough 

additional space, widening the doorway is the 

next option. If there are sharp turns immediately 

prior to or after a doorway, a 32" door may not be 

wide enough. If the home physically allows for it, 

a 36" or even 42" door may be preferable. This will 

involve some construction as the frame will need 

to be widened. This may even include moving 

light switches, which often are placed near the 

original door frame. When considering a wider 

door, one will want to take into consideration 

if the door can swing fully open, or if it will be 

stopped by a wall. This too will impact the final 

width of the passageway. 

Another aspect of doors to consider are 

thresholds. While pushing someone in a 

One significant aspect in creating a wheelchairfriendly 

home is addressing the issue of glare. 

When someone is at wheelchair height, they can 

struggle with glare from under-counter lighting 

and other recessed lighting options that may be 

fine for others in the household. Discovering 

lighting glare problems can be as easy as having 

the person in the wheelchair taking a tour of the 

home and experiencing the lighting. Oftentimes, 

glare problems can be resolved by lowering the 

position of lighting, offering alternative lighting 

resources or using reduced glare bulbs. 

Another source of problems for wheelchair users 

is the position of light switches. Light switches 

placed behind countertops for example, can 

be difficult or impossible for someone in a 

wheelchair to reach. Others may struggle to 

reach switches that are too high or located near 

15


doors that may have to be held open to reach 

them. Wheelchair-friendly light switches should 

be placed at a height of 36 inches. Switches 

behind counters or at heights at 44 inches or 

more should be relocated. When moving light 

switches, strongly consider changing to larger, 

easier to manipulate rocker switches. 

Navigational lighting can be a benefit to 

everyone in the household, and may be seen as 

an added benefit to home buyers looking at your 

community. Today's LED lighting is perfect to 

help guide users down hallways and to doorways 

when it is dark. Place this lighting at the base 

of floorboards to better illuminate travel lanes. 

Additional lighting can be beneficial around door 

locks and handrails. The value of this lighting 

can be increased by making it either solar or 

motion activated to minimize struggling to find 

switches. When it comes to lighting, attention 

should be paid to highly used and traveled areas 

of the home to make the best use of available 

resources. 

Flooring 

When choosing flooring for a wheelchairfriendly 

home, there are four basic factors to 

be considered. You'll want a surface that is slip 

resistant, easy to maintain, one that wears well 

and one that is easy to maneuver in a wheelchair. 

Here is a look at some wheelchair-friendly 

flooring options: 

Laminate Flooring 

Laminate flooring is sometimes preferable to real 

wood flooring in that it will wear better under 

extensive use of a wheelchair, is arguably easier 

to maintain, and is less expensive to replace. This 

doesn't, however, mean one should immediately 

replace current natural wood flooring in a home 

with a laminate alternative. Most laminates have 

slip-resistant surfaces and are very easy to roll 

over in a wheelchair. There is no need to sacrifice 

design elements in choosing a laminate surface. 

Today's laminates include everything from rich 

looking woods to natural stone and slate replicas. 

Ceramic Tile 

Ceramic tile seems to be a natural for a 

wheelchair-friendly home. It is relatively 

inexpensive, flat, hard, slip-resistant, and easy to 

maintain. Spilling most liquids on a ceramic tile 

floor is not an issue if the grout lines are properly 

sealed. Choosing larger ceramic tiles can provide 

a smoother surface to travel due to less grout 

lines. The one challenge with ceramic flooring is 

that is hard and unforgiving to dropped objects/ 

phones/etc. Ceramic is also appealing because it 

is perfect for bathroom and kitchen areas where 

16 

water is present. 

Vinyl 

Vinyl flooring is available in two basic formats: 

tile or sheets. It is affordable, versatile, available 

in a variety of patterns, generally slip resistant, 

and easy to install. When choosing flooring 

for a wheelchair-friendly home, consider wear 

patterns. If sheet vinyl begins to show wear, 

you may have to consider replacing the entire 

surface. With tile, a homeowner may be able 

to replace just worn tiles. Vinyl is excellent at 

resisting moisture but has one weakness: It 

can be marked or marred by sharp edges. That 

should not, however, be a problem when used in 

areas that will sustain wheelchair traffic. 

Carpeting 

Many wheelchair users can maneuver over 

certain carpeted surfaces relatively easily, with 

few exceptions. If carpeting pile or padding is 

too thick, it can provide resistance to the wheels 

of a wheelchair. Low pile or commercial grade 

carpeting is often the best choice for homes 

where a wheelchair user resides. Pile that is 1/2" 

thick or more can be most difficult to negotiate. 

Of course, carpeting is not the best choice in 

areas where moisture is present like bathrooms 

or kitchens. Over the course of time, even low pile 

and commercial grade carpeting will show signs 

of wear. Unless present carpeting is extremely 

thick or soft, replacement is probably not 

necessary to make a home wheelchair friendly. 

Ultimately, you'll want to consider a flooring 

choice that meets the needs of the wheelchair 

user, while providing a surface that is easy to 

maintain, durable and aesthetically pleasing. 

The good news is there are multiple options and 

choices for all budget ranges. As a general rule, 

area rugs are not recommended on top of these 

surfaces, as they will typically impede one's 

ability to maneuver in a wheelchair. 

Hallways 

Typically, hallways need to be a minimum of 

36" wide to accommodate a wheelchair, but 

48" is considered to be the ideal minimum 

(and is required by law in most commercial 

establishments). Keep in mind, this is for a 

straight entrance-way to doorway type hallway 

where no turns will be needed. If a turn will 

be necessary to enter a room that is along a 

hallway, 36" clearance or more will be needed in 

all directions for enough room to make the turn 

unimpeded. Remember, making a "spin" turn in 

a wheelchair can be problematic if the turn is 

being made on an unsecured area rug.


One of the easiest steps to take in making 

hallways wheelchair accessible is to clear the hall 

of any potential obstacles. This can include side 

tables, coat trees, shoe racks, and decorative 

items. Where clearance is minimal, removing 

large or low hanging artwork from walls may be 

necessary. 

If a present hallway is not wide enough to be 

considered wheelchair friendly, and there are 

no other living arrangements available in the 

home to avoid use of the hallway, homeowners 

may be left with no choice but to widen it. First, 

determine if either hallway wall is load bearing. 

Once that is determined, moving the non-load 

bearing wall will be much easier and more cost 

effective. In most homes, nearby rooms will have 

to be expanded or contracted to allow for the 

added hallway width. 

When a wall must be moved, it is a good idea 

to adjust the hall to the American Disability 

Act (ADA) standard 48" width (minimum) for 

hallways. This will make life for the person in the 

wheelchair much easier, especially where turns 

are necessary in a hall. It may also be a good 

time to consider wider doorways along the hall, 

especially if expansion will make an end of hall 

doorway off-center. 

Bathrooms 

basic areas to address in most bathrooms. In 

the case of making them wheelchair accessible, 

there are also a variety of other considerations to 

keep in mind. 

Toilet 

The ADA recommends a seat height of 17-19" for 

toilets. This is a height that is both comfortable 

and makes transfer in and out of a wheelchair 

easier. There are multiple ways to accomplish 

this change of height. 

• Purchase of a taller toilet 

• Purchase of a wall mounted toilet to 

accommodate a specific desired height 

• The use of an elevated base to raise the toilet 

• Installing a thicker toilet seat designed to raise 

the seat height 

• Use of a plastic toilet seat insert to raise seat 

height 

In some cases, where mobility is a problem, a 

bidet may be an option for a wheelchair-friendly 

bathroom. Ideally, two grab bars placed no more 

than 36" apart on either side of the toilet is 

preferred. If that is not possible, installation of 

a single grab bar within 18" of the nearest wall 

is an option. There are also grab bars available 

that install on the rear wall where side walls are 

not available. 

Toilet paper holders should be placed slightly 

forward of the toilet seat. In cases where inches 

matter, consider a flush mounted toilet paper 

holder. 

Sink/Vanity 

Bathrooms can be one of the more challenging 

areas of a home to retrofit into being wheelchair 

friendly. Those fortunate enough to have a larger 

bathroom will find the remodel much easier. While 

you're at it, you might want to consider making 

a few other changes to the bathroom that could 

increase your resale value. Smaller bathrooms 

will present unique obstacles, but accessibility 

should still be achievable nonetheless. 

Clearance between any immovable barriers 

should be a minimum of 36". In some cases, this 

may mean plumbing changes. There are three 

Wall-mounted sinks that provide a minimum 

of 27" knee clearance are most often the best 

choice for a wheelchair-friendly bathroom. This 

allows a user to get closer to the sink and faucet. 

Sink rim heights should be mounted no higher 

than 34". 

Seemingly little things like a choice of faucet 

handless can make life just a bit easier for 

a wheelchair user. Single handle faucets are 

preferred over grab-and-twist type choices. 

Home faucets are available with sensors that can 

determine when a user's hands are under the 

faucet. Make sure there are hand towels available 

at wheelchair height and that frequently used 

personal care products are accessible. 

Mount mirrors just above sink height and make 

them large enough so they can be used by other 

17


members of the household. Shock proof GFCI 

electrical sockets for electric dryers and shavers 

should be placed at a convenient height where 

water may be an issue. 

Shower/Tub 

If a current shower is accessible, it may be able 

to, in some cases, accommodate someone in a 

wheelchair through a series of grab bars and a 

fixed or portable shower seat. A minimum of 36" 

access is necessary for a transfer into a shower. 

Grab bars should be installed at both sitting and 

standing heights. Some choose to install longer 

grab bars at an angle that accommodate both 

standing and sitting. 

In many cases, more substantial alterations may 

have to be made. 

For those who prefer a tub, walk-in tubs are 

a good option. These are designed so users 

can enter the tub without having to climb over 

sidewalls. Instead, a self-sealing door keeps 

water in the tub. Make sure faucet controls are 

installed convenient to the user. 

There are low and no threshold showers available 

that can easily accommodate a wheelchair. These 

showers have floors that flow to a drain, away 

from the doors edge to manage water. It is 

critical that shower floors have a textured, nonslip 

surface to help prevent falls. Such showers 

should be at least 60" wide to allow for a complete 

turn of a wheelchair. They should include a 

handheld shower head with a minimum 60" hose 

and faucet controls that are accessible. Showers 

should include standing and sitting height grab 

bars and personal items and bath towels should 

be conveniently located. 

Other Considerations 

Adequate clearance is critical in making a 

bathroom wheelchair friendly. As in other areas 

of the home, rocker light switches that are 

placed lower for wheelchair users can add to the 

convenience of the room. Shiny glass surfaces 

and mirrors can add to the glare problem in 

bathrooms for users in wheelchairs, so steps 

should be taken to avoid these issues. Wheelchair 

users may also be tempted to use towel racks 

as grab bars, so make sure they are solidly 

installed. Better yet, make sure there are enough 

specifically installed grab bars to allow for easier 

maneuvering in the bathroom. 

Bedrooms 

Making a bedroom wheelchair friendly is 

comparatively easy compared to some other 

spaces in a home if there is sufficient space in the 

room. Bedroom size is somewhat finite (unless you 

opt for an expansion), so choosing a home with 

ample space is key. For example, larger homes 

in Palos Verdes Estates may be more optimal for 

some than a downtown efficiency condo. This 

is why bed size is so important in setting up a 

bedroom for someone in a wheelchair. 

The difference between the width of a single 

size mattress and a full-size mattress is 15" (39" 

vs 54"). King and Queen size mattresses are 5" 

longer than single or full-size mattresses. In 

addition, a King size mattress is 16" wider than a 

Queen (76" vs 60"). 

Another significant factor to consider is the 

mattress height. The seat height of standard 

wheelchairs is 19-20" above floor level. That 

means any mattress taller than 21" above floor 

level will force the user to climb up onto the 

bed surface. Of course, a softer or pillow top 

mattress will provide some "give" so mattress 

height could be slightly taller with theses [sic] 

types of mattresses. Since many wheelchair 

users dress on the side of the bed, it is a good 

idea to pay extra attention to the construction of 

the side of the mattress. Beds should be placed 

with access from both sides, with a minimum 36" 

wide access on one side. The other side should 

allow for a 5' turning radius. If space allows, an 

additional 5' turning radius at the foot of the bed 

can be beneficial. 

Along with a 36" entrance-way width, bedrooms 

should have a minimum clearance of 36" from 

obstacles like furniture. If an entrance has a 

threshold that is difficult to overcome, it can be 

replaced with a lower profile threshold or altered 

with a threshold ramp. 

Clothing storage takes some thought and perhaps 

some slight remodeling, especially when it 

comes to closets. Rods for hanging clothes could 

either be lowered or there are pull-down rods 

available. Off the floor shelving can be helpful 

for shoes and folded clothing storage. 

Chest of drawers and dressers should be no 

more than 4 or 5 drawers tall, depending 

on drawer depth. Lowest drawers should be 

used to store items that are rarely worn. Most 

accessible drawers should be used for frequently 

worn clothing. Drawers generally extend out 

about 10", so that should be kept in mind when 

determining available floor space. Keep dressers 

far enough away from bedroom doors to allow 

them to swing open all the way. 

A nightstand should be conveniently placed near 

18

the head of the bed with either a touch lamp or a 

rocker switch reachable from the bed to control 

lighting. 

Kitchens 

Sinks 

Like countertop workspace, sinks will need space 

underneath to allow for a wheelchair user's knees 

and legs. There are sinks designed with drains 

near the rear of the sink to facilitate this. This 

allows drains to be moved back, away from the 

legs and knees of a user. 

Faucets should be single lever for convenience 

and a hose sprayer is often useful. There 

are "hands-free" sinks available if desired. 

Faucets can also be side-mounted for greater 

accessibility. A small slide out drawer or cabinet 

near the sink can be handy for cleaning supplies. 

Cabinetry 

The extent to which one will want to make a 

kitchen wheelchair friendly will likely depend 

on how and how frequently the person in the 

wheelchair intends to use the kitchen. Along 

with the normal 36" clearance between obstacles 

and 5' turning radius areas, there are four main 

aspects to consider in an accessible kitchen. 

They include countertops, sinks, cabinetry, 

and appliances. There are also some other 

considerations homeowners will want to keep in 

mind in retrofitting a kitchen to be wheelchair 

friendly. 

Countertops 

Countertop height will usually be the single 

biggest factor in making changes to a standard 

kitchen. While work surfaces are generally placed 

at 36", they will be need to be lowered to 28- 

34" inches to make them wheelchair friendly. 

Countertop depths should be no wider than 30". 

Homeowners should keep in mind that not all 

countertop space needs to be lowered. This will 

depend on if the kitchen will be used by others. 

Depending on the situation, lowering a section 

of countertop can be a sufficient solution. 

Whether lowering all countertops or making 

partial adjustments, those in a wheelchair will 

require leg, knee and toe space to make the 

area accessible. This knee space should be a 

minimum of 27" high and 8-11" deep. This may 

require removal of base cabinets, but they can be 

replaced with portable, roll-out style cabinets to 

maximize storage. Pull-out style cutting boards 

and work surfaces can also serve to extend 

countertop space. 

To make a kitchen truly wheelchair friendly, 

there will likely need to be some dramatic 

changes made to the cabinetry in a kitchen. This 

will include lowering upper cabinets to a usable 

height and eliminating some lower cabinets to 

allow leg and knee space so users can get to 

work surfaces. These changes could coincide 

with cabinet refurbishing if you feel they're 

visibly outdated. 

Upper cabinets can be lowered to a height that 

is most comfortable for the user. Lower, more 

accessible shelves should store more frequently 

used items like glasses, dishes, spices etc. Lazy 

Susan type cabinets can be invaluable in certain 

situations. Lower cabinets can be replaced with 

large, full-extending storage drawers for items 

like bowls and pots and pans. 

Appliances 

Generally, lowering appliances to a maximum 

height of 31" is a good idea, with the exception of 

a dishwasher. Dishwashers may actually have to 

be raised 6" or so to make them more accessible. 

Along with lower stove and oven heights, it is 

important that stove top controls be placed at the 

front of the stovetop. This will prevent users from 

having to reach across potentially hot burners to 

turn them on or off. It is also beneficial to have 

separate oven and stove top units so they both 

be placed at accessible heights. 

While not all items in a full-size refrigerator/ 

freezer may be accessible, side by side or 

refrigerators with a bottom drawer freezer offer 

a bit more accessibility. 

Other Considerations 

Like in bathrooms, the glossy surfaces in a 

kitchen can often cause glare issues. This can be 

particularly true where under cabinet lighting is 

19


used. Dimmers and anti-glare lighting can help. 

Kitchens should be outfitted with GFCI sockets 

anywhere near water to prevent shocks. Light 

switches should be easily reachable and rocker 

switches used. 

Furniture 

When choosing furniture for a wheelchairfriendly 

home, there are some basic traits to 

keep in mind. Furniture that is sturdy and stable 

so pieces can be used as support is desirable. It's 

typically best to avoid sharp edges. Fragile and 

decorative choices made from glass are usually 

not the best option. 

Traditional living room layouts that include 

a coffee table may not be practical. The 36" 

clearance needed around such a table will 

absorb a great deal of space. In addition, the 

low height of a coffee table limits its usefulness 

for someone in a wheelchair. Any tables chosen 

for a wheelchair-friendly room should be tall 

enough for everyone to use conveniently. 

Chairs and sofas should be chosen based on 

height and firmness. Very soft, cushioned chairs 

and sofas may be comfortable, but they can 

be difficult to get up and out of. The same can 

be said for chairs and sofas that are too low in 

height. Choosing seating with solid, strong arms 

can be helpful in assisting wheelchair users to 

get into and out of chairs. If a recliner is desired, 

be cautious not to choose one where the user's 

legs are needed to return to a sitting position. 

There are powered recliners and those that have 

manual side assists to help in reclining and 

sitting back up. There are also lift chairs that 

provide an additional level of convenience. 

in a wheelchair. While they may appear to be 

rather simple and straightforward, there are a 

number of design, measurement, and material 

factors that go into deciding an appropriate 

ramp. 

There are two general types of ramps in use for 

home exteriors: 

Free-Standing Wheelchair Ramps 

Free-Standing wheelchair ramps are the most 

durable of wheelchair ramps, but they also can 

be the most expensive to construct. They can be 

designed to be either temporary or permanent 

and while wood is the most commonly used 

material in these types of ramps, aluminum is 

also a popular choice. 

Wood ramps tend to be more permanent in 

nature because they require footings. They also 

offer opportunities for better customization to 

fit the appearance of a home. However, wood 

ramps may require maintenance over time, 

potentially including waterproofing, staining 

and board replacement. Following construction, 

wood ramps will need some form of non-slip 

material on the ramp flooring. 

Aluminum ramps are usually available in a 

variety of components and modular systems and 

can be customized for a variety of applications. 

While they are more affordable than wood and 

generally come with slip-resistant surfaces, they 

can dent and may not fit as well aesthetically to a 

property if that is a concern. They are, however, 

more easily installed and put into use. 

Threshold Ramps 

The 30" height of an average dining room table 

is fine for wheelchair use. Pedestal tables that 

don't have legs at the corners can be a bit easier 

to maneuver when dining, while tables with 

rounded corners offer additional safety. 

Today, it is not necessary to sacrifice design for 

practicality. Many manufacturers offer options 

that are suitable for wheelchair-friendly homes 

that also enhance the beauty of a room. There 

are also more furniture options designed for 

those with limited mobility. Keep in mind, less 

can be more when it comes to rooms furnished 

for easy access. 

Home Exterior Accessibility Tips 

Entrance/Ramps 

Ramps are the most popular way to address 

elevation issues in entering and leaving a home 

While free-standing ramps are the popular choice 

for overcoming exterior steps and level changes 

for entrances, threshold ramps can be sufficient 

when barriers are significant, but do not require 

a major height change. Threshold ramps can 

be used to overcome a curb-height barrier or 

a door threshold that can be problematic for a 

20


wheelchair user. They can be custom made for 

specific entrance-ways, usually out of a wood 

frame and a thick plywood surface. No threshold 

ramp should have an edge that exceeds 1/4". 

Many households have found it useful to 

keep portable threshold ramps in a vehicle to 

accommodate wheelchair users when traveling. 

Determining Ramp Dimensions 

The width of an entrance ramp can be dependent 

on the user, but most often range from 36-48". 

It is the length that can vary widely. 

The total running length of a ramp will depend 

mainly on the total vertical height that must be 

overcome. A ramp will generally extend one foot 

for every 1 inch of height. For example, if one 

must get to a doorway that is 3 feet above ground 

level, the total running length would be about 36 

feet. This may require a ramp to be constructed 

in several back and forth sections. A wheelchair 

should never be used on a ramp that has more 

than a 14.5 degree incline. 

Ideally, you will want to ensure there is a flat 

"landing" area between the ramp incline and the 

door to facilitate gaining access without risk of 

rollback. 

mulch or gravel do not make good pathways for 

wheelchairs. 

Attention should be paid to make sure patio 

furniture is solid and substantial. Pedestal style 

tables can help provide ample knee space for 

dining out of doors. Normal backyard amenities 

like a sun umbrella are appreciated. It can be 

inviting to create an area in a clear, flat, solid 

space with a small, table nearby for beverages. 

If the person in a wheelchair enjoys gardening, 

allow for planting next to an accessible path. A 

raised garden can add to accessibility. Hanging 

plants can be lowered to allow tending by a 

person in a wheelchair. 

Enjoying a wheelchair-friendly home means 

taking advantage of it inside and out. A few 

thoughtful steps can make a yard much more 

user-friendly. 

Driveways/Garages 

A wheelchair-friendly garage and driveway can 

be very important in the daily life of someone 

in a wheelchair. It provides more freedom and 

may allow access to a workshop, tools or even a 

laundry area. 

Exterior entrance ramps are a critical component 

in making a home wheelchair friendly. They 

require careful planning and proper execution. 

When completed, a well-designed and 

constructed ramp will improve the quality of life 

tremendously for users. 

Yards 

The first step in making yards wheelchair friendly 

is making sure they are accessible from both the 

outside and the inside of a home. This may be 

as simple as adding some threshold ramps to a 

sliding doorway or may involve a more extensive 

wood or aluminum ramp. How much of a yard 

your home has is often dependent on zip code, 

but there's typically some outdoor space to 

improve if you're working with a single family 

home. It could also involve creating a pathway 

from another, more accessible exit to the home 

to the yard that doesn't have barriers. 

Like in the interior of a home, smooth, hard 

surfaces work best in yards for wheelchairs. 

Concrete or asphalt surfaces are typically best 

for outdoor areas. If cement tiles are used, make 

sure the tiles are closely spaced. Paths should 

be 36" wide and turn areas of 5' square should 

be placed occasionally along the path. Grass, 

While a flat, hard surface is best for a wheelchairfriendly 

driveway, asphalt or concrete can be 

rather expensive, especially if the driveway is 

relatively long. If replacing an entire driveway is 

cost-prohibitive, homeowners should consider at 

least making sure there is a sizable area directly 

in front of the garage that is made of concrete 

or asphalt. This will allow for easier entrance in 

and out of a vehicle and permit more convenient 

loading an [sic] unloading. The area should be 

at least six feet wider that [sic] the width of a 

vehicle and allow for wheelchair passage both in 

front of and behind the car. 

Any ledge that is taller than 1/4" in height into or 

out of the garage door area should be minimize 

[sic] with a small wheelchair size ramp. If not 

21


already in use, a garage door opener should be 

installed and rocker light switches placed near 

both the garage door and home entrance door. 

Doors into the home or out to the yard from 

the garage should be a minimum of 36" wide. 

Ramps may have to be in place to overcome 

any barriers. Keep in mind the rule of 1 foot of 

ramp length for every 1" vertical rise. A step of 

6" or 7" for example, will take a 6' or 7' ramp. 

A wheelchair-friendly garage should be roomy 

enough to allow entrance into and out of the 

vehicle inside when the weather is inclement. 

If a garage is used for other purposes other [sic] 

than parking a vehicle, you'll want to take those 

uses into consideration. Workbenches should be 

lowered to 30" high with a maximum depth of 

24". Tools and pegboards should be accessible. 

Make sure there is at least a 27" high space 

underneath the workbench for the users [sic] 

legs, and knees. 

If the garage contains and [sic] washer and dryer, 

consider replacing them with front-loading 

machines on 10" risers for greater accessibility. 

Keep detergents and supplies on accessible 

shelves. 

Creating a wheelchair-friendly garage creates an 

opportunity to reduce clutter and create more 

open space. It also provides an opportunity for a 

better lifestyle. 

Decks/Porches 

Outdoor living areas are quite enjoyable 

and should be accessible by all members of 

a household. The first area of focus should 

typically be making sure a deck or porch is 

accessible from the interior. This may be as 

simple as a [sic] using a small threshold ramp 

and ensuring the doorway is a minimum 36" 

wide. It is recommended that accessible areas 

have at least 5' of space in all directions. 

Multi-level decks may involve the use of ramps 

to make them fully usable. When building a 

deck that is wheelchair friendly, consider a deck 

that is at a height easily accessible from both 

inside and outside a home. Keep in mind that 

both wood and composite decking materials can 

get slippery when wet, so steps should be taken 

to create a non-slip surface through a variety 

of textured materials available. Composite 

materials can be placed closer together than 

wood planks, making a composite surface 

somewhat smoother than wood. Planks should 

generally be placed to run perpendicular to the 

wheels of the chair so wheels don't get stuck in 

the "grooves" of decking. 

[…] 

Article available at: https://www.southbayresidential.com/wheelchair-accessible-homemodifications/

PEOPLE 

GOOD 

NEWS 

ABOUT 

FSHD 

By Madeleine de Villiers 

We would like to thank the MDF for asking to join 

the research studies on FSHD taking place at the 

University of Nevada! 

As genetic testing does not take place for FSHD 

patients in South Africa, the only way of diagnosis 

is through a neurologist. My mother, Anne-Marie, 

and I, Madeleine de Villiers, were both diagnosed 

with FSHD. We have decided to join the team to 

try and help them further their research on FSHD. 

We only had to supply a sample of our DNA (by 

means of saliva) and sent these samples to Gerda 

Brown at the Foundation, who then sent it through 

to Peter L. Jones, PhD (Associate Professor of 

Pharmacology at the University of Nevada). We 

just had to carry the cost of approximately R200 

for the courier. Our results have confirmed that 

both of us are indeed FSHD1 positive. 

On Tuesday evening, 2 November 2021, we had 

the privilege of a Zoom meeting with Dr Jones (at 

20:00 our time and 11:00 their time) to discuss 

the results further, and we had some questions 

to ask. Even though we have basic knowledge of 

research and studies done, we have never had a 

doctor in SA who could talk to us about where we 

ourselves are headed with our condition and who 

could explain it in more detail than shown in the 

studies and research posted. 

Dr Jones explained how the condition is diagnosed 

according to the tests done on the DNA. There are 

about four different ways this is done. It was very 

interesting to hear but quite a lengthy explanation 

and very scientific, though he explained it to us 

in terms that we could better understand. He 

explained the difference between our results, and 

this gave clarity on why I carried so much pain in 

comparison to my mother, who has none. He also 

answered all our questions, from how the genes in 

our bodies work, to why losing weight could be a 

challenge. He gave advice on exercises and daily 

living. In my opinion, he gave me more clarity and 

support than any other doctor I have yet seen in 

SA since my diagnosis seven years ago. 

The sad part is that so few people have decided 

to join the study. FSHD is one of the most difficult 

diagnoses to make. From about 40 people tested 

in SA many have come back testing negative. Even 

though this is a research programme, these tests 

are very expensive and this opportunity comes 

only once in a lifetime. We decided to grab it with 

both hands. We are so thankful that we did, as we 

now have the absolute clarity that we are indeed 

correctly diagnosed. 

We want to appeal to any FSHD patients to consider 

joining their study. Not only is this a good cause 

towards benefiting future generations, but 

working with them has brought peace of mind 

about our diagnosis and about many unanswered 

questions that we previously had. 

Anne-Marie – “To me it is so exhilarating to think 

there's hope in the future. Keep up the good work 

and keep us informed please.” 

Madeleine – “I want to thank the University of 

Nevada team and the MDF Foundation for all their 

hard work. It is an absolute blessing to know there 

are people out there trying to find a cure”. 

The best news of all was they reckon that in 

approximately 20 years time there may even be a 

cure for this disease. From our side we say thank 

you to everyone helping to make this a reality. 

Best wishes – Madeleine de Villiers and Anne- 

Marie Stoman 

23

PEOPLE 

My journey writing 

an LGMD inspired 

fictional novel … so 

far 

By Marinus Mans 

I’ve been living with limb-girdle muscular 

dystrophy R2(2B) for longer than I can remember, 

but today’s story is not about the usual slow 

loss of my mobility, or even how I struggled to 

determine what specific disease I had back then. 

It’s not about how I managed to be successful in 

my career as the progression continued for at least 

a decade and a half. It’s also not about how I came 

to accept most of the cards I had been dealt and 

how I stood a fighting chance with the help of my 

amazing family, friends, and my then employer. 

No, that story will take too long to tell. 

Today I want to focus on how I have created the 

main character in the manuscript I’ve been working 

on for the past six years. His name is Alexander 

de Swardt and he wasn’t so lucky in having the 

support structure I had. In a strange twist of fate 

his LGMD was cured completely with gene therapy 

in his twenties, and he was able to run and walk 

again. Then a decade or so later his good fortune 

was unexpectedly reversed and the decline in 

mobility was much faster the second time around. 

All of this takes place in a science fiction/horror 

setting with a speculative political and historical 

background. But I’m not going to give the story 

away today. 

Back to my writing journey. After I was medically 

boarded in 2014, I decided that I had to create 

this novel. To keep me busy? Cheap therapy? 

Who knows? Problem was I had no idea how. I’m 

Afrikaans, and I love my home language, but I 

knew I was going to write in my second language: 

L’anglais. I love reading a good book now and 

then, but I’ve never been an avid reader or 

interested in creative writing per se. I mostly wrote 

weird abstract essays in high school inspired by 

a band called Marillion, or rather their first lead 

singer named Fish. In the nineties I left my English 

teacher confused. Almost 14 years later, in 2009, 

I wrote music reviews online as a hobby, but my 

work became too hectic, and I could only pick 

it up again from 2015 to 2020, when I wrote 

and conducted interviews for a website named 

Watkykjy. So, I guess I’ve always had an affinity 

for poetic and meaningful lyrics when listening to 

music, but taking on something more substantial 

was never going to be smooth sailing. In October 

2015 I travelled with my part-time assistant, 

Mathews Phuti, to Hermanus to take a break, and 

then I just began to type ‒ something, anything. 

And thus began the journey of a thousand words 

... 85 000 more or less. 

Why did it take such a long time? First off, I 

had my other hobbies ‒ music journalism and 

investing passively in the stock market. I could 

do them online without overstressing my muscles 

by watching on the TV and my cell phone. So, I 

never rushed the writing process. It had to come 

naturally. I thought about the characters and plot 

constantly in the background and made notes 

on my phone, but I had no deadlines. Bad idea! 

Furthermore, I couldn’t sit and type at a desk for 

hours on end. During my working life I worked 

too hard, for way too many long hours and had 

mountains of stress. I overburdened my upper 

body muscles so much that I began to develop 

anxiety and breathing issues. When I stopped 

working completely I improved with leaps and 

bounds, and so I’ve had to manage that for the 

24

PEOPLE 

past seven years. Luckily the company I worked 

for had group disability insurance, so at least I 

was covered financially. But one or two hours a 

day sitting upright and typing away was all I could 

commit to in 2016. I asked Johan Vos (a friend 

and sub-editor for a newspaper) to give his 

impressions on my first draft, and that was quite 

helpful to give me direction. I realised I needed 

someone in the field of publishing to give me 

more guidance. Through a mutual friend I met 

Samantha Miller in April 2016. She’s a researcher 

and lecturer in the field of publishing at the 

University of Pretoria, and she provided even more 

insight and assistance. She also introduced me to 

Henk Breytenbach in 2018. He’s a published South 

African author with titles like Moordlys, Kodenaam 

Icarus and Kroonwild under his belt. We became 

friends, and they read and commented on my 

second draft. Their input convinced me that I 

could write something that I could sell, even if only 

to a handful of people. Samantha told me about 

a Facebook group where independent writers 

share ideas, and a year later I took the plunge 

and approached one of the professional editors 

and award-winning authors in that group, Nerine 

Dorman (The Firebird; Sing Down the Stars), to see 

if she would assess my manuscript. She takes on 

a small number of clients, and quite frankly she 

taught me how to write fiction in a commercial 

manner. She also copy-edited my manuscript but 

has mainly been an online mentor to me, and I 

call her ‘Sensei’ because her ‘kung-fu’ is strong. I 

learned skills I never would have imagined back in 

2015, and it really is empowering when someone 

with that much experience believes in your 

manuscript. Typing on my dilapidated old laptop is 

a challenge, and it’s missing a few keys, but I have 

adapted my positioning by resting the laptop on 

my stomach while lying on my bed. It’s not ideal, 

but I can write a little bit longer in this position. 

Recently I approached a few local publishers and 

overseas literary agents, but no multimillion dollar 

deals are on the table yet. Haha! Nothing prepares 

you more for rejection than having LGMD, so I’ve 

viewed this project as more of a learning curve, 

and I always had in mind that I would self-publish 

it anyway. The overall expenses of editor’s fees, 

graphic design and formatting I see as my ‘school’ 

fees. 

During the past few weeks I’ve been discussing 

with Gerda Brown from the MDFSA and other 

members of the LGMD community how we could 

raise money for research and potential treatment 

of LGMD in future. It’s become clear to me that 

I must self-publish the novel and donate the 

proceeds to the MDFSA ‒ even if it’s only a few 

randelas. That would be the cherry on the cake 

for Alex de Swardt and his journey, wouldn’t it? I 

must still get my website and e-mail list up and 

running, and I must also arrange for one more 

copy-edit with a different editor to make sure 

no mistakes have slipped through. Nerine will 

do a cover design at a discounted price and then 

format the novel. So there’s much more work to 

be done, but you can follow me on Instagram so 

long if you’re interested in my future endeavours: 

@marrasrolbees. 

The Muscular Dystrophy Foundation of SA 

would like to thank the National Lotteries 

Commission for their support. 

25

PEOPLE 

A Boy With Muscular Dystrophy 

Was Headed For A Wheelchair. 

Then Gene Therapy Arrived 

Conner Curran, 9, (right) and his brother Will, 7, at their home in Ridgefield, Conn., this week. The gene 

therapy treatment that stopped the muscle wasting of Conner's muscular dystrophy two years ago took more 

than 30 years of research to develop. 

Kholood Eid for NPR 

By Claire Sykes 

Muscular Dystrophy Association 

This is the story of a fatal genetic disease, a 

tenacious scientist and a family that never lost 

hope. 

Conner Curran was 4 years old when he was 

diagnosed with Duchenne muscular dystrophy, 

a genetic disease that causes muscles to waste 

away. 

Conner's mother, Jessica Curran, remembers 

some advice she got from the doctor who made 

that 2015 diagnosis: "Take your son home, love 

him, take him on trips while he's walking, give him 

a good life and enjoy him because there are really 

not many options right now." 

Five years later, Conner is not just walking, but 

running faster than ever, thanks to an experimental 

gene therapy that took more than 30 years to 

develop. 

Conner was the first child to receive the treatment 

— a single infusion designed to fix the genetic 

mutation that was gradually causing his muscles 

cells to die. The treatment can't bring back the 

cells he's lost (he remains smaller and weaker 

than his twin brother, Kyle), but it has allowed the 

muscle cells he still has to function better. 

Parents Christopher and Jessica Curran at home 

in Connecticut with their sons (from left) Kyle, Will 

and Conner. 


26

PEOPLE 

Since Conner's treatment, eight other boys with 

Duchenne muscular dystrophy have received two 

different doses of the gene therapy. Preliminary 

results on six of them, tested a year after treatment, 

showed they, too, had improved strength and 

endurance at an age when boys with Duchenne 

usually become weaker. 

The success suggests that gene therapy could 

be poised to change the lives of thousands of 

children — usually boys — who have Duchenne. 

But scientists still want to see the results of a 

much larger trial of the therapy, which is likely to 

begin later this year. 

A race against time 

Conner's parents, Jessica and Christopher Curran, 

never accepted the doctor's grim prognosis. But by 

the time their son got to first grade, he was falling 

far behind his fraternal twin, Kyle, and struggling 

to get around the house. 

"He pulled himself up the stairs," Jessica says. "He 

would make it past four stairs and he couldn't do 

the rest. He could not last a full day in school. The 

teacher would say, 'We let him take a little nap in 

the classroom,' and I'm thinking, what?" 

The Currans knew that scientists were working 

on a treatment. About a year after his diagnosis, 

they'd begun to hear the words "gene therapy." 

It seemed like the answer. After all, children 

with Duchenne lack a functional version of the 

dystrophin gene, which helps muscles stay 

healthy. So why not fix it? 

"The concept is very simple. "You're missing a gene 

so you [put it] back," says Jude Samulski, a gene 

therapy pioneer and a professor of pharmacology 

at the University of North Carolina School of 

Medicine in Chapel Hill. 

A molecular "FedEx truck" 

Samulski devoted more than 30 years to making 

that simple concept work. 

It all began in 1984, when he was still a graduate 

student at the University of Florida. Samulski was 

part of the team that first cloned a virus that would 

become a staple of the gene therapy world. 

It was an adeno-associated virus — part of the 

parvovirus family, which is best known for causing 

intestinal problems in puppies and skin rashes in 

children. 

But AAV is remarkable because it infects people 

without making them sick or causing much of 

an immune response. So Samulski saw AAV as a 

potential way to safely transport healthy genes 

into ailing muscle cells. 

"It's a molecular FedEx truck," he says. "It carries a 

genetic payload and it's delivering it to its target." 

But delivering a gene is harder than delivering 

a package. And delivering the dystrophin gene 

proved especially challenging. 

The approach Samulski had in mind involved 

packing some of the genetic code from a dystrophin 

gene inside AAV. Once the virus got into the body 

it would infect muscle cells and replace their faulty 

dystrophin code with a functional version. 

Conner Curran explores his family's garden. The 

experimental treatment he got two years ago was 

an infusion of many copies of a harmless virus 

known as AAV that had been packed with some 

of the genetic code from a dystrophin gene. Once 

inside the body, these copies of AAV transport 

their payload of functional dystrophin code into 

muscle cells, where they replace a faulty version. 


One obstacle, though, was that AAV is tiny, even 

among viruses. Dystrophin, on the other hand, is 

the largest known human gene. It contains about 

500 times the amount of genetic information 

found in AAV. 

Another challenge was that Duchenne affects 

billions of muscle cells all over the body. So the 

AAV delivery truck would have to be programmed 

to reach, recognize and infect these muscle cells 

wherever they were found. 

Over the next 15 years, progress came one small 

step at a time. 

27

PEOPLE 

The MDA wanted Samulski to start a company 

to develop that drug, says Dr. R. Rodney Howell, 

professor emeritus at the University of Miami and 

the association's board chairman at the time. 

The group knew that Samulski didn't have much 

business experience, Howell says. "But, on the 

other hand, he knew a tremendous lot about 

viruses and how they work and how they might 

really be effectively brought into the clinical 

practice." 

So in 2001, Samulski and a small team created 

Asklepios BioPharmaceutical, or AskBio. 

Researchers led by Jude Samulski, a gene therapy 

pioneer and a professor of pharmacology at the 

University of North Carolina School of Medicine in 

Chapel Hill, developed the gene therapy that has 

successfully treated Conner Curran and at least 

eight other boys, so far. The Muscular Dystrophy 

Association financed the effort. 

"This was very challenging," Samulski says. "It was 

the Mount Everest of the gene therapy community 

and each one of these steps was like setting up 

base camp." 

Gene therapy suffers a tragic loss 

Then, in 1999, Samulski's base camp got hit by an 

avalanche. A teenager named Jesse Gelsinger died 

in a gene therapy experiment. 

The experiment had nothing to do with muscular 

dystrophy or the AAV virus. But those details 

didn't matter. 

"It stopped everything," Samulski says. 

Gene therapy trials were postponed or abandoned. 

Investors disappeared. So did research funding. 

But one group never wavered: the Muscular 

Dystrophy Association. 

"If the MDA didn't step in, the field was going to 

dry up and die," Samulski says. 

The MDA had helped fund the discovery of 

the dystrophin/DMD gene responsible for 

Duchenne, the most common and most serious 

form of muscular dystrophy. And the group was 

determined to turn that discovery into a cure. 

So when Samulski approached the MDA about a 

grant, it made him an offer. 

"I remember Jude saying we probably won't get 

funding because gene therapy is an unproven 

technology and there are a lot of naysayers," 

says Sheila Mikhail, AskBio's CEO. "But it has the 

potential to change the world." 

Today, AskBio occupies a gleaming new 

headquarters in Research Triangle, N.C. It's part 

office building, part lab, and part pharmaceutical 

manufacturing facility. 

During a tour of the building, Samulski pauses to 

point to a liquid-filled flask. "You see that media 

going around and around?" he says. "That's human 

cells that are growing." Then he shows me a device 

that uses sound waves to break open cells and 

expose the viruses inside. 

The company didn't have this sort of tech early on. 

Even so, Samulski and his team managed to create 

an abridged version of the dystrophin gene — one 

small enough to fit inside their viral FedEx truck. 

Then they started making deliveries — first in test 

tubes, then in mice, then in golden retrievers with 

a genetic mutation similar to the one Conner has. 

Typically, these dogs "can't stand on their hind 

legs because they lose their quadriceps," Samulski 

explains. "And they usually don't get past 1 year 

of age." 

But dogs who got the gene therapy did much 

better. And a video of those dogs eventually made 

its way to Conner Curran's parents. 

"They were able to run and jump," Jessica says. "We 

saw this with our own eyes. And we just thought, 

'Oh gosh, if one day Conner could get a chance 

to get something like this ...' — it just gave us so 

much hope." 

" 'Jude, we love the work,' " Samulski remembers 

hearing from the MDA. " 'We love the research. But 

we're tired of funding academics that just publish 

a paper. We need something to turn into a drug.' " 

28

PEOPLE 

When Conner was feeling better, Samulski had 

the family over to his house, where he played the 

piano for his young friend and showed him his 

garden. 

"We talked about science, and viruses and snacks," 

Conner says. "I love him." 

Playing with his brothers, Conner Curran (left) 

says the gene therapy has really helped him. "I 

can run faster. I stand better," Conner says. "And 

I can walk to Goldberg's — that's a bagel shop — 

and it's more than 2 miles and I couldn't do that 

before." 


Samulski's company lacked the resources to bring 

its gene therapy to the thousands of boys with 

Duchenne. So in 2016, AskBio sold its treatment 

to the drug company Pfizer. 

By early 2018, Pfizer was ready to start clinical 

trials of the experimental substance. And so was 

Conner Curran. 

"He and his brave parents volunteered to be 

the first to get treated with the gene therapy," 

Samulski says. 

As the day approached, though, Jessica had 

doubts. 

"I looked at my husband and I said, 'Chris, are 

we doing the right thing for Conner?' " she says. 

"And he said, 'We need to be in this together Jess, 

and let's think about the alternative. And the 

alternative is death.' " 

To Conner, the treatment with what he calls 

"muscle juice" was no big deal. "They put a needle 

in my arm for two hours," he says, when I ask him 

what it was like. 

What made a larger impression on Conner was his 

friendship with Samulski. 

The scientist was with the family in the days after 

Conner was infused with billions of viruses. He 

was also there days later when Conner became 

feverish and stopped eating — a common reaction 

to this type of treatment. 

Conner Curran says getting the infusion of what 

he calls "muscle juice" was no big deal. "They put 

a needle in my arm for two hours," he says. He and 

other boys getting the treatment did experience 

some side effects, though, ranging from fever and 

nausea to liver problems. 


The treatment worked quickly. "Within three weeks 

he was running up the stairs," Jessica says. 

"I can run faster. I stand better," Conner says. "And 

I can walk to Goldberg's — that's a bagel shop — 

and it's more than 2 miles and I couldn't do that 

before." 

Conner's body will never replace the muscle cells 

he lost before his treatment. And though the 

approach has worked for more than two years 

now, it's not clear how long his new genes will last. 

It's also not clear whether Conner could safely get 

a second treatment. 

But his improvement offers strong evidence that 

the approach can work. It's now been tested on 

nine boys. And Pfizer is planning a much larger 

study for later this year. 

Meanwhile, other companies are also working on 

gene therapy for Duchenne. 

Sarepta Therapeutics, for example, has received 

FDA approval for treatments aimed at two subsets 

of Duchenne patients and plans to use AAV to 

treat a broader group. 

29

PEOPLE 

Still, scientists and doctors treating these patients 

agree that AAV therapy has flaws. 

Several boys, including Conner, became ill 

temporarily after receiving the virus with symptoms 

ranging from fever and nausea to kidney and liver 

problems. Two ended up in the hospital. 

The scientist stands at a whiteboard in a meeting 

room at AskBio. A half dozen researchers sit 

around a conference table littered with half-empty 

pizza boxes. 

Samulski explains that every gene therapy trial 

using a version of AAV has run into problems with 

side effects, often affecting the liver. The problem 

seems to be a dangerous immune response 

prompted by the virus. 

"We gotta solve this," Samulski says. "In my mind 

this is the most important thing that we can do 

this year." 

As usual, he has an idea. 

"We want to build a stop sign in here," he says, 

pointing at one of the figures he's drawn on the 

board. 

He tells the team to go create one. 

The Curran family (from left): Kyle, 9, Jessica, 

Conner, 9, Chris and Will, 7, with their dog Hunter, 

a miniature schnauzer. Pfizer is planning a 

much larger study for later this year of the same 

treatment Conner got, and other companies are 

now working on different types of gene therapy to 

treat Duchenne muscular dystrophy. 


So Samulski has been working on a fix. 

When I speak to Samulski several months later, 

he tells me that the team has delivered the stop 

sign he requested. The lab is now doing tests in 

animals to see whether it works 

Article available at: https://www.npr.org/ 

sections/health-shots/2020/07/27/893289171/ 

a-boy-with-muscular-dystrophy-washeaded-for-a-wheelchair-then-genetherapy-arri#:~:text=Then%20Gene%20 

Therapy%20Arrived&text=Eid%20for%20 

NPR-,Conner%20Curran%2C%209%2C%20 

(right)%20and%20his%20brother%20 

Will,years%20of%20research%20to%20develop 

30

PEOPLE 

My life story 

By Penny van Niekerk 

My name is Penny and I have Becker muscular 

dystrophy (BMD). I was adopted when I was a year 

old, so I did not know my real family. I had two 

sons, Pieter and Wayne, who also had BMD with 

heart problems, and they passed away 10 and 11 

years ago. My two boys as small kids were very 

healthy and did everything other kids could do. 

When the younger, Pieter, was about nine years 

old, he began to fall over his feet. I took him to 

see a doctor, who checked everything and then 

asked Pieter to sit down on the floor and get back 

up again. He could not do that without using his 

hands on his legs. The doctor suspected muscular 

dystrophy, but I had no clue what it was. The 

doctor had to cut a piece of muscle from Pieter’s 

leg to test and confirm the type of dystrophy 

he had, whether Duchenne or Becker. I waited a 

long time for the results and got very depressed 

as I knew almost nothing about the disease and 

only read in books that it means you start losing 

muscle, land up in a wheelchair and die of it. 

I could not ignore this! The results came back, 

and Pieter had tested positive for Becker muscular 

dystrophy. Everyone around me got into a panic 

and was heartbroken. I was determined that 

this disease would not get us down without a 

fight. Somewhere in the midst of this I was also 

diagnosed with BMD, having noticed that I was 

dropping everything and had no grip in my hands. 

Doctors also noticed my shoulders. 

When my boys started struggling at school, we 

decided to move them to Northern Lights School, 

a wonderful school in Port Elizabeth. They did 

very well there and passed their grade 12. Wayne 

started work after school and Pieter went to the 

Nelson Mandela University. I was so proud of my 

boys. Pieter was born with a beautiful talent to sing 

and made his own CD. Wayne started having more 

health complications, sometimes passing out and 

having sleep apnea. Doctors gave him an oxygen 

mask to sleep with in case he stopped breathing. 

During Pieter’s second year of university his health 

also fell apart, and doctors could not find the 

problem. He was in so much pain and couldn’t eat 

at one stage. Pieter was sent for tests, and fluid 

was found in his appendix, but he could not be 

operated on as his heart was too weak! The boys’ 

hearts were growing bigger, and they had to use 

medication to lower blood pressure and prevent 

water from building up. After a month Pieter was 

three times his normal size. He was very sick and 

could not get out of bed anymore. Wayne had got 

married and was expecting his first son, Cole. On 

Friday 31 April Pieter was in very bad shape, and 

I was very scared and cried, because I had a very 

bad feeling! On the morning of 1 May he stopped 

breathing, and my then husband tried to revive 

him. Pieter came to for a few moments and asked 

my husband, “What happed?” – and then he passed 

away! For me it felt unreal ‒ I blocked it out even 

at his funeral! 

On 4 May my grandson was born, and my son 

Wayne was on top of the world! But as time went 

by, Wayne’s health also started letting him down, 

and he grew weaker. He initially did housework and 

took care of raising his son, but later the doctor 

said he was getting too weak to handle all he was 

doing. He became sick and went to hospital with 

an infection. Again that fear overcame me, and 

the following week Wayne passed away ‒ he never 

made it out of hospital. Both my boys had died of 

massive heart attacks. A year after Wayne s death 

his wife died in a motorcycle accident. 

I struggle to cope with everything. It feels as if 

my heart has been ripped out of my chest. I build 

a wall around me to protect myself, but I feel the 

need to tell my story. Although BMD is a horrible 

disease, I have to keep my boys alive in the very 

happy memories I have of them. I am proud to 

be the mother of Pieter and Wayne van Niekerk! 

I thank God and I thank their father, Andre van 

Niekerk, for the blessing of my two angel boys! 

31

PEOPLE 

I Just Want 

To Show Other 

Patients That 

Anything Is 

Possible 

By Jake Marrazzo 

Patient Profiles blog 

America’s Biopharmacetical Companies 

My story starts on a basketball court in early 

elementary school where, despite my best 

attempts, I couldn’t seem to keep up with the 

other kids. I also noticed they had an easier time 

going up the stairs, and I really wanted to know 

why. After a few years of asking questions, at 

age 8, I was diagnosed with Duchenne muscular 

dystrophy, or DMD for short. 

Essentially, this genetic disease means that my 

body can’t make a protein called dystrophin, which 

my muscles need to keep moving. Without it, my 

muscle cells have started to weaken and die off. 

At age 12, I started using a wheelchair because 

walking became too difficult. 

I’m 15 now, but in the seven years that have 

passed since my diagnosis, I have refused to let 

this disease slow me down. Getting diagnosed 

with DMD was extremely hard (although I think 

it was harder for my parents than it was for me), 

and I was forced to come to terms with certain 

limitations at a far earlier age than most people. 

But at the same time, I’ve learned the value of 

living life to its fullest in the time that we have. 

I feel like I’ve discovered myself as a person, and 

ultimately, I’ve been able to become an inspiration 

to others. 

For example, I have always loved theater, but 

after my diagnosis, I avoided auditioning for 

roles because I didn’t think there was a place for 

someone with my condition on stage. Looking 

back, I see that was the wrong approach, and in 

high school, I thought “what do I have to lose?” and 

began attending auditions. During my first show, 

I was so nervous, but I adapted. Now Duchenne is 

not that much of a limitation for me as a performer. 

The process taught me the importance of never 

giving up and saying to yourself “I WILL do this.” 

It’s that same mindset I want to give to others in 

my situation – people like my nephew, who was 

recently diagnosed with DMD as well. My mom and 

I have learned so much about Duchenne since my 

diagnosis, and when we heard about his, we knew 

how to help. I just want him and others to know 

that yes, you’ll have limitations, but that shouldn’t 

slow you down from doing what you love. There 

will be good days and bad days, but in the end, 

you learn to roll with the punches. 

Aside from my wheelchair, I’m a normal teenager. 

I still goof off with my friends during theater 

practice. I still tell my parents that I don’t want 

to dust my room. My mom often says that “if you 

don’t have hope, what do you have?,” and she’s 

right. 

32

PEOPLE 

When I first got diagnosed, my mom and I joined 

patient groups and tried to meet families with 

DMD trying to figure out what to do, how to cope, 

how to stay positive. Now, people come to us with 

the same questions. I tell everyone the same thing: 

Your journey is going to be hard, but there’s no 

reason to let it stop you. You’ll learn to roll with 

the punches. You’ll learn a lot about yourself. And 

you’ll learn how to live every day to the fullest. 

Article available at: https://innovation.org/en/ 

about-us/innovation-faces/patient-profiles/ 

just-want-to-show-other-patients-anything-ispossible 

Even in the last seven years since my diagnosis, 

there have been many advances in our ability to 

treat DMD. Today, there are so many potential 

new medicines, and even potential cures, coming 

our way. I recently met a Pfizer scientist who is 

trying to find a gene therapy that could help my 

body make dystrophin, slowing or even halting 

the course of Duchenne. 

33

TRAVEL 

SAFARI TENT LIVING 

By Hilton Purvis 

If you want to get a little bit outside your comfort zone and try something different for your next 

travel adventure, consider looking into one of the SANPARKS "safari tent" accommodation options. Your 

holiday home will consist of a permanent canvas safari tent fitted with a small kitchenette and an en 

suite bathroom. Sleep in a normal bed, not on the floor, and that floor is usually wood construction, so 

all perfectly level and well above any creepy crawlies or floodwaters! Certainly living and sleeping in a 

safari tent helps to create an Out of Africa atmosphere far more so than a brick and mortar cottage or 

chalet. They lean slightly towards the new phrase called "glamping", meaning "glamorous camping", 

with not too much emphasis on the glamorous! They require no setup work on your part so all of 

the hard work and frustrations associated with camping are thankfully negated. It is a balancing act 

between creating the atmosphere of living in a tent in the wilds of Africa versus accommodation which 

is both easy and comfortable for the visitor. 

Grootkolk is a wilderness safari tent campsite located in the far north of the Kgalagadi Transfrontier 

Park. It is a long way from everywhere, which is precisely why it is so popular and sought after. It is 

a mini oasis in the midst of a vast bushveld landscape stretching for hundreds of kilometres in every 

direction. 

There are a lot of "does nots" at Grootkolk ... it does not have electricity, it does not have drinking 

water, it does not have cellphone reception, it does not have any fences. These unavailable services 

may intimidate some folk, but for others they are a welcome feature and an indication that you are far 

34

TRAVEL 

off the beaten track and well into the African bush. The last item, the lack of fences, need not sound as 

intimidating as it might. Each safari tent has a rudimentary fence which provides protection around one's 

motor vehicle and the front veranda. It is enough to keep marauding hyenas at bay (the biggest danger) 

along with the resident lions. Smaller creatures might find their way into your camp but they pose little 

danger. It is however wise to be vigilant, especially when preparing food. 

Enough with the statistics and logistics! You don't go to Grootkolk to be concerned about what you do not 

have; you go there to enjoy what it does have, and that it has in abundance! Soak up the landscapes and 

incredible quiet and peacefulness of being in such a remote location. Perhaps I should put a reservation 

on the term "quiet" since the birdlife is plentiful and you are awakened to a dawn chorus each morning! 

The smaller bush birds are everywhere but it won't be long before you see the enormous Kori bustard, 

vultures, eagles and the ever-present Lanner falcons hunting doves at the waterhole. In the evenings 

you will see owls and nightjars circling the waterhole, making a feast out of the hundreds of insects and 

moths which are attracted to the light. It is a never-ending show. 

On our first morning we had a pair of lion walk in at around 7 am as we were preparing the morning 

coffee. They expressed no obvious interest in us, although the male did make a close inspection of our 

neighbours. Perhaps they looked more appetising than we did .... At no point in time did I feel in any 

danger, despite the fact that we also had jackal and numerous species of antelope passing through 

the camp. I was able to move quite easily from our tent area across to the communal entertainment 

area, which in fact offered a better viewing platform from which to see the waterhole and overlook the 

surrounding bushveld. 

Grootkolk consists of four such safari tents connected indirectly to a communal dining and leisure 

unit, all of which look out onto a waterhole just 50 metres away, which is lit up at night. All the tents 

have solar power for lighting purposes and use gas for cooking and refrigeration. The local water is 

not potable and can be used only for washing purposes. All drinking water has to be carried in by you. 

The en suite bathroom is wheelchair accessible with limitations. It is very small, with only frontal access 

to the toilet and narrow side access to the shower. There are grab rails in all the usual places, and the 

hand basin is at a suitable height for wheelchair access. These might be issues if you are permanently 

confined to a wheelchair, but if you are able to stand or take a couple of steps, they would not be an 

issue. Something which we have tried recently and found to be really successful has been to purchase 

a couple of rubber car footwell mats (from MIDAS) and place them strategically in the bathroom where 

good traction is required. They travel in the car, in the footwell, so don't take up any space and help to 

make slippery bathroom floors far more manageable. 

In the next edition we will cover the Kalahari Tented Camp, just south of Mata Mata, perched on the edge 

of an escarpment overlooking a dry river bed. 

35

Sandra’s thoughts on… 

Being mindful 

By Sandra Bredell (MSW) 

With the end of the year fast approaching, we 

suddenly realise we are tired. It could be that we 

are bored by work and school or just fatigued from 

struggling with the new routine that Covid-19 has 

caused. And it is okay to be tired, but in this article 

we are going to focus less on Covid-19 and the 

disruption it has caused and more on how we can 

live a better life under these circumstances. 

s many of you may not be familiar with the concept 

and term “mindfulness”, let’s first look at a brief 

definition to make sure we are all on the same page. 

Mindfulness refers to being aware of our present 

thoughts, feelings and surroundings, looking at 

all of them through a gentle, nurturing and nonjudgmental 

lens (“What is mindfulness?” ©2021). 

When looking at our thoughts, we acknowledge 

those that we have in the present moment and not 

thoughts of the past or even the future. We need to 

be aware of our thoughts in an accepting manner 

and not try to judge them as either right or wrong. 

Remember, these are your thoughts in that specific 

moment. There is no right and wrong. 

A similar definition of mindfulness is offered by 

Jon Kabat-Zinn, a well-known author and founder 

of the Stress Reduction Clinic at the University of 

Massachusetts, who describes it as “an awareness 

that arises through paying attention, on purpose, 

in the present moment, and non-judgmentally” 

(in Delagran, ©2016). He has used the skill of 

mindfulness to teach people to manage their stress 

and chronic pain. From this definition it is clear that 

to be mindful is a choice that each person needs to 

make. Scott Bishop, a psychologist by profession, 

also emphasises the fact that mindfulness is nonjudgmental 

and an awareness that is centred in 

the present moment (in Delagran, ©2016). These 

definitions indicate that being mindful somehow 

remodels or reshapes the way we understand our 

experiences. 

Suzanne Westbrook instructs students whose minds 

have wandered off to “come back to your breath. It 

is a place where you can rest and settle our minds” 

(in Mineo, 2018). So how do we get back to this safe 

place, and literally take one step or breath at a time, 

to ensure that we slow down and handle what we can 

– the present. Let us look at an acronym technique 

to help you on your way. Dr Elisha Goldstein shares 

these techniques in his blog by using acronyms such 

as R.A.I.N. and S.T.O.P (in Borchard, 2009). We will 

briefly look at what S.T.O.P. means, but the links are 

provided here for further reading. 

S – Stop what you are doing, put things down for a 

minute. 

T – Take a breath; breathe in and out through your 

nose. 

O – Observe your thoughts, feelings and emotions. 

Become aware of how you are feeling, aches and 

pains that you might have. Just acknowledge and 

reflect on the feelings and emotions that you are 

experiencing in that moment. 

P – Proceed with something that will support you in the 

moment ‒ making yourself a cup of tea, phoning a 

friend, visiting your neighbour, reading a book or 

whatever you will find helpful in that moment. 

Pal, Hauck, Goldstein, Bobinet and Bradley (2018) 

mention a few practical things that you can add to your 

daily routine to fill your day with mindfulness. Use 

some of the quotes provided in this article to remind 

you to be more mindful and to practise mindfulness 

daily. It might just take the edge off things a bit and 

make your day go a bit more smoothly. To reap the 

benefits of being more mindful, you first need to 

make the choice and then practise the techniques. 

To those who celebrate Christmas, may it be blessed 

and joyful. To everyone who will take a break and 

enjoy a well-deserved holiday, take care and be safe! 

36

Resources 

Borchard, L. 2009. “4 quick mindfulness 

techniques”. PsychCentral, November 23. https:// 

psychcentral.com/blog/for-thanksgiving-week- 

4-quick-mindfulness-techniques#1;https:// 

psychcentral.com/blog/for-thanksgiving-week- 

4-quick-mindfulness-techniques#1 

Delagran, L. ©2016. “What is mindfulness?” 

Reviewed by M.J. Kreitzer. Earl E. Bakken Center 

for Spirituality & Healing, University of Minnesota. 

https://www.takingcharge.csh.umn.edu/whatmindfulness 

Goldstein, J. 2009. “Difficult emotions: one 

approach you’ll want to try”. Trust Awareness. 

https://trustawareness.com/practices/articledealing-with-difficult-emotions/ 

Goldstein, J. 2014. “Stress got you down? Try 

this tip to balance throughout the day”. http:// 

www.positiveselfcare.com/wp-content/ 

uploads/2014/08/TheStopPractice.pdf 

Mineo, L. 2018. With mindfulness, life’s in the 

moment. The Harvard Gazette, April 17. https:// 

news.harvard.edu/gazette/story/2018/04/lessstress-clearer-thoughts-with-mindfulnessmeditation/ 

Pal, P., Hauck, C., Goldstein, E., Bobinet, K. and 

Bradley, C. 2018. “5 simple mindfulness practices 

for everyday life.” Mindful, August 27. https:// 

www.mindful.org/take-a-mindful-moment-5- 

simple-practices-for-daily-life/ 

“What is mindfulness?” ©2021. Greater Good 

Magazine. The Greater Good Science Center, 

University of California, Berkeley. https:// 

greatergood.berkeley.edu/topic/mindfulness 

37

TO BE OR NOT TO BE 

In William Shakespeare's play Hamlet, written 

around 1600 AD in the late Middle Ages, Prince 

Hamlet exclaims, "To be, or not to be, that is the 

question" (in the opening soliloquy given in the 

"nunnery scene" of Act 3). In the speech, Hamlet 

contemplates death and suicide, bemoaning the 

pain and unfairness of life but acknowledging that 

the alternative might be worse. 

Now, 420 years later, many of us are asking, with 

similar phrasing, "To vaxx, or not to vaxx, that 

is the question"! This question dominates our 

conversations, polarises opinion, and controls our 

social interaction, or at least what is left of our 

social interaction these days. It is perhaps closer to 

Hamlet's soliloquy than we like to think, since the 

fear of death certainly is foremost in our minds, 

whilst the fear that accepting the vaccination 

may be an act of suicide is not very far from our 

thoughts either. 

As someone who has dealt with muscular dystrophy 

for nearly 60 years, I was concerned about the 

potential impact of the COVID-19 vaccination 

on my metabolism. This led to my being quite 

hesitant, and somewhat sceptical, about the 

process. The danger of COVID-19 manifested in 

our lives quite early in the pandemic when three 

able-bodied friends died in quick succession, 

leaving us in no doubt as to the severity of the 

virus. It became very real. 

With the arrival of vaccinations early this year, I 

tried to find information which would help clarify 

the possible risks that might exist for me in 

relation to my dystrophy. Consulting a general 

practitioner was a waste of time. Their knowledge 

of muscular dystrophy is superficial at best and 

their advice limited to what relates to the average 

able-bodied patient. The government's medical 

reassurances were extremely vague, peppered 

with words such as "might", "hope", "should", 

etc. Hardly reassuring. Thanks to the Western 

Cape Network on Disability I managed to source 

some information from the Muscular Dystrophy 

Association of the United Kingdom which was a 

little more specific (mentioning concerns about 

respiration, exercise, medication, etc) but still 

not decisive on any advice, preferring to leave 

the choice to the individual or their medical 

practitioner. So it all came back to square one. 

All of this is, of course, perfectly understandable 

since the development of any vaccination would 

not have addressed specific disabilities. It is far 

too early in the process to have that information 

available in any reasonable quantity or quality. 

With the arrival of the third wave, matters took 

a distinct turn for the worse, with our losing 

another three close able-bodied friends and 

having numerous others admitted to hospital for 

extended periods of time and finding themselves 

extremely debilitated following their treatment. 

This became our tipping point, when we decided 

that we were more concerned about catching 

COVID-19 than we were about the possible aftereffects 

of the vaccination. We processed our 

registrations and have subsequently received both 

"jabs". The effectiveness remains to be seen and 

will no doubt manifest itself in the future, one way 

or another. Certainly the ongoing development of 

variants indicates that we will no doubt be primed 

for a "booster" jab in the months that lie ahead. 

David Quammen, in his book entitled Spillover: 

Animal infections and the next human pandemic, 

very eloquently explains that humans only really 

effectively began to fight viruses when science 

realised that they were life forms in their own right 

and therefore driven by the need to survive and 

breed, both of which they do effectively. In order 

to achieve this, viruses have to evolve according 

to the changing environment. This is a bit like a 

38

game of chess ‒ each move we make, the virus will 

try to counter, and vice versa. This is an ongoing 

battle. 

At this stage, however, it appears that our differing 

opinions on whether to vaxx or not to vaxx are 

going to have a more serious impact on our society 

than the actual vaccination will have. The tensions 

involved are creating division within families, in 

places of work and across friendships, and the 

issue has the potential to become a political 

football and source of social barrier creation and 

discrimination. 

This is an extraordinary global phenomenon to 

witness. I find it exciting to live in these times, 

despite how strange that sounds, and at the same 

time I am apprehensive about how the tension 

is ultimately going to manifest itself locally, 

nationally, and internationally. At this point I think 

that, much as we look back at Hamlet, historians 

in centuries to come will look back at the events 

of 2020/21 as being a crossroads for humankind. 

Keep safe everyone! 

A PERSONAL NOTE: I was terribly saddened to 

hear of the passing of Antoinette De Nobrega 

(Esterhuizen) last month. We had known one 

another for over 20 years, exchanging experiences 

of our shared disability and strategies for making 

the most of our lives. I enjoyed her contributions, 

humour, and positive approach and will always 

miss her valuable insight. A good person gone too 

soon. 

Thank you, e-TV for broadcasting our 

advertisement during August and September to 

create awareness about muscular dystrophy. 

We are most grateful for your support. 

39

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 

40 

Many research projects worldwide 

are working on gene therapy as a treatment option for 

muscular dystrophy. What is your opinion about it? 

In answering this question, it is important to consider a number of important points. Firstly, muscular dystrophy 

is not a single disease but rather a group of conditions caused by faults in many hundreds of different genes. 

Muscular dystrophies may vary dramatically in severity, age of onset and prognosis. A person with muscular 

dystrophy typically has faults in one gene. The exact faults may vary in different individuals, even within the 

same gene. 

Secondly, gene therapy is a technique that modifies a person's genes to treat or cure disease. Gene therapies 

can work by several mechanisms, including replacing a disease-causing gene with a healthy copy of the gene, 

inactivating a disease-causing gene that is not functioning properly, or introducing a new or modified gene 

into the body to help treat a disease. There are currently many different approaches to achieving these aims. 

In addition, the majority of therapies that are being developed are aimed at treating a specific condition with 

faults in a single gene. In some cases the therapy may be aimed at only a specific type of fault in one gene or 

even at only one fault. 

Gene therapies potentially offer some advantages over more standard therapies in that they may need to be 

given only once or a few times in an individual’s lifetime. However, few gene therapies are available that have 

been through completed clinical trials. Because few patients are eligible for any particular therapy, and their 

development costs are large, gene therapies are likely to be extremely expensive options. In addition, some 

may need to be given by using invasive techniques, e.g. into the brain if brain tissue is affected. Additionally, 

for muscular dystrophies, by the time patients manifest disease they may have lost a significant amount of 

muscle tissue. Further, development of muscle occurs in utero, and new muscle cells do not really develop 

after birth. Therapies are thus more likely currently to slow disease than reverse it or cure it. 

I was clinically diagnosed with muscular dystrophy. Is it 

necessary to do further tests and get a proper genetic 

diagnosis? 

As mentioned above, muscular dystrophy is not a single condition. It is a group of genetic diseases characterised 

by progressive weakness and degeneration of the skeletal muscles. Faults in a large number of different genes 

may cause muscular dystrophies. The clinical manifestations, age of onset and severity vary considerable 

between different forms, and also within the same form, depending on the exact causative genetic fault. 

There are thus a number of reasons why an individual may want to get a definitive genetic diagnosis rather than 

a clinical diagnosis. As our knowledge expands, and the number of patients described with faults in different 

genes expands, we are learning more about the specifics of each genetic condition. Thus, knowing your 

exact genetic diagnosis may provide some specific management guidelines, e.g. some muscle conditions also 

affect cardiac muscle, others do not. In addition, some muscular dystrophies may have important non-muscle 

related complications, e.g. cataracts or hearing loss. If the exact genetic diagnosis is known, management 

directed to the specific genetic diagnosis may be appropriate. 

An exact genetic diagnosis is also required for a patient to be eligible for new gene-specific therapies or gene 

therapies. In addition, a genetic diagnosis is important in understanding and determining the risk for other 

family members developing the same disease. Further, it is necessary to know the genetic diagnosis if testing 

of a pregnancy or embryo is required.

Resilience through 

creative arts 

By Marguerite Black 

Text reprinted from the Helderberg Gazette, September 28, 2021 

During the pandemic, we’ve all experienced 

trauma in one way or another. Of course, many 

of us have pre-existing trauma due to disability, 

illness or any adverse life occurrence. 

Neuro-scientifically it’s been proven that creative 

arts therapy re-awakens certain parts of the 

brain that have been “arrested” due to trauma. 

Watercolour painting, in particular, may help to 

enable “frozen” or rigid thought processes to 

become more fluid and malleable. 

In this time, many of us feel as if we are in an 

in-between or liminal space. Therapist, Pema 

Chodron, said: “When things fall apart and we’re 

on the verge of we know not what, try to stay 

on that brink and not concretize...relax as it is 

(despite the groundlessness) whilst trying to 

lighten up and loosen your grip.” 

disheartened, dispirited or depressed they would 

ask you one of four questions: When did you stop 

dancing? When did you stop singing? When did 

you stop being enchanted by stories? When did 

you stop finding comfort in the sweet territory of 

silence. 

So, I encourage you to create in this difficult 

time, even in tiny ways, for your own healing and 

transformation, but also to ward off the Covid-19 

worries. Have a pen, paper, colour pencils or basic 

water colour paint ready [...] 

Drawing within a large circle can be a representation 

of yourself; it can be very calming, grounding 

and centring. Create various shapes and patterns 

within a large circle, using colours of your choice. 

It may be helpful to embrace the uncertainty and 

stay present in the in-between space. Expressive 

art therapies can assist us in doing so. 

We need to express darkness for the light to 

come out. We can trust that we are able to sit 

with the painful parts of ourselves (be it the fear, 

shame, the anticipatory dread or the obsessive 

ruminatìons) and hold these parts in gentle 

awareness or grounded presence. We can trust 

that we are able to bear what seems unbearable 

and to be with whatever is unfolding. 

Working with images and colour can help us 

develop a deeper and richer relationship with our 

emotions. By sitting with our art, the pain will 

eventually dissipate and we will gradually be able 

to blossom, connect with moments of nourishing 

light and express it. 

In many indigenous societies, if one came 

to a medicine person complaining of being 

About Marguerite: She is an author, therapist, 

mentor and coach with an honours degree in 

Psychology and MA in Creative writing (UCT and 

Unisa). She is the author of The dandelion diary: 

The tricky art of walking (https://www.goodreads. 

com/book/show/8734331-the-dandeliondiary). 

Her NPO, The Dandelion Initiative, offers 

creative arts therapy, play therapy and trauma 

counselling to disadvantaged youth. The above 

article comes from her monthly column “smArt 

therapy” in the Helderberg Gazette. 

41

Random gravity 

checks 

By Andrew Marshall 

I have written a few times about how absolutely 

blessed I am and about the abundance I’m 

surrounded by each and every day. This hasn’t 

changed. In fact, I often also feel a little excessively 

privileged telling others about how I manage the 

disability grant I receive from the government, 

because I know that the vast majority of people 

who receive grants need them to put food on the 

table or to cover exorbitant and never-ending 

medical expenses. 

Still, even if you put away a small amount of money 

every month, at the end of the year you will have 

a substantial amount on your hands. And even if 

your family uses grant cash to contribute to the 

household, you won’t believe how fast a few coins 

that have been stashed away grow into more than 

just a few coins. 

When I was younger and hadn’t yet been diagnosed 

with this madness, my mother taught my sister 

and me the importance of saving for days when 

precipitation falls out of the sky. Today, Lee (my 

able-bodied blister) is conscientious about the 

money she and her husband generate from their 

business, and I’m always massively impressed by 

how they make it grow. 

I remember Mom saying ‘always live within your 

means‘. In other words, don’t go into debt – 

unless you really have to. The only debt she had 

when we were kids was a bond for our house, and 

even that she tried to put more money into than 

was necessary, to try and pay it off as quickly as 

possible. First she saved for each of her cars and 

then bought them outright, so we never had a 

It all adds up 

smart fancy car – she always drove an old-school 

Mini. Another one of Mom’s biggest money 

lessons is that she never borrowed from anyone. 

She kept her emergency fund and borrowed from 

herself but always returned the money over time. 

I understand that if you run a business you can 

write a lot of expenses off to tax, and if you 

have a good job, part of your salary goes to car 

expenses, but Mom was a nursing sister before 

she retired, and so this is how she taught us. I 

appreciate what I learned tremendously, because 

even with the +/-R2 000 a month I receive from 

the government, I try to put bits and pieces away 

every month and allocate them to different things. 

As I said, I feel like a spoiled brat, because 

I basically use the grant like pocket money, 

where others need it for survival. But we all have 

different circumstances, and I feel that even if we 

put only a few rand away each month, the savings 

process can eventually allow us to buy something 

substantial at the end of the year. 

In our family, every month my mom draws my 

grant, and then we sit and split it all up. I take 

R300 and put it in a toiletries file, and because 

I don’t use it all every month this amount builds 

up. Then I take another R300 and allocate it to our 

DStv and interweb. I can’t begin to explain how 

outstandingly incredible it feels giving that wad 

of cash to Mr F (my stepfather). Probably the best 

way to describe it is ‘liberating’. I then put R300 

in my bank account, so I can buy stuff online like 

airtime, Lotto once in a while (if I’m feeling lucky) 

and maybe the odd book on Audible. 

42

Then a couple of hundred bucks go toward my 

helper’s Christmas bonus. The feeling of giving 

him that cash at the end of the year is hard to 

describe, but again, ‘liberating’ is the closest I 

can get. Another R300 goes to my phone/tablet. 

Last time I saved this for two years (like I was on 

a contract), which allowed me to buy a protective 

case and a screen protector as well. Lastly, I put 

R200 towards my family’s Christmas gifts. If there 

are a few bucks left over, I can buy myself a few 

beers (but that’s just between you and me). 

So, if you save R300 each month for 12 months 

and hand that wad of cash over to Mr F or whoever, 

that’s R3 600 over a year ‒ which has a lot more 

value than if you didn’t save it up at all! Well that’s 

how I feel anyway. Really I should keep it all together 

in the bank and only use a spreadsheet to divide it 

up, because it’s dangerous having so much ching 

lying around, and now I’ve told you guys my secret 

you might get my address and break in! (I know 

some of you guys are super dodgy, and our house 

is wheelchair friendly.) 

be teaching them to think like this, and I know 

that my sister has instilled the same values and 

thinking in my nieces. And of course I wish I had 

a few extra bucks a month (don’t we all) to do 

the same thing to buy a phone for my helper, or 

maybe to stash a bit more cash for Christmas. 

I encourage anybody who might be reading this 

to do the same thing for yourself, or for someone 

who helps you, if you can. It’s just a simple, small 

piece of wisdom my old lady taught us along the 

way, but I am full of gratitude for her making us 

think like this, because really, truly, it all does add 

up at the end. 

Even if you put coins in a piggy bank you won’t 

believe how fast it adds up. When my sister and I 

were small we had a piggy bank each, dedicated 

to December time. If I had my own children I’d 

43

RESEARCH 

NEW DISCOVERY COULD 

LEAD TO THERAPIES FOR 

PATIENTS WITH DUCHENNE 

MUSCULAR DYSTROPHY 

BY THE UNIVERSITY OF CALIFORNIA – IRVINE 

NEWS RELEASE, APRIL 14, 2021 

Image: The analysis of dystrophic quadriceps by immunofluorescence microscopy highlights a novel interaction 

between immune cells and stromal progenitors that stimulates fibrosis during muscular dystrophy. 

Eosinophils are depicted in green, ILC2s in red and stromal progenitors in blue. 

Irvine, CA – April 14, 2021 – A 

new study, led by the University 

of California, Irvine (UCI), reveals 

how chronic inflammation 

promotes muscle fibrosis, which 

could inform the development 

of new therapies for patients 

suffering from Duchenne 

muscular dystrophy (DMD), a 

fatal muscle disease. 

Titled, "A Stromal Progenitor 

and ILC2 Niche Promotes Muscle 

Eosinophilia and Fibrosis- 

Associated Gene Expression," the 

study was published today in Cell 

Reports. Chronic inflammation 

is a major pathological 

process contributing to the 

progression and severity of 

several degenerative disorders, 

including Duchenne muscular 

dystrophy (DMD). Studies 

directed at establishing a causal 

link between muscular dystrophy 

and muscle inflammation 

have revealed a complex 

dysregulation of the immune 

response to muscle damage. 

During muscular dystrophy, 

chronic activation of innate 

immunity causes scarring of 

skeletal muscle, or fibrosis, 

compromising motor function. 

How immunity is linked to the 

molecular and cellular regulation 

of muscle fibrosis was not well 

defined, until now. 

"In our study we found the 

interaction between two types 

of cells--a novel stromal 

progenitor, which is similar to 

a stem cell, and group 2 innate 

lymphoid cells (ILC2), which 

are a type of immune cell that 

reside in skeletal muscle-- 

44

RESEARCH 

promotes the invasion of white 

blood cells in muscle. This 

condition is associated with 

the elevation of genes that 

promote muscle tissue scarring 

found in DMD," said lead author 

Jenna Kastenschmidt, PhD, an 

assistant specialist in the UCI 

School of Medicine Department 

of Physiology & Biophysics. 

The new study not only reveals the 

interaction of cells contributing 

to DMD, but it illuminates how 

muscle eosinophilia is regulated. 

Eosinophils are white blood 

cells that infiltrate dystrophic 

muscle causing fibrosis. In 

this study, researchers found 

that eosinophils were elevated 

in DMD muscle compared to 

control patients. In addition, 

researchers found the deletion 

of ILC2s in dystrophic mice 

mitigated muscle eosinophilia, 

reducing the expression of genes 

associated with muscle fibrosis. 

These findings contribute 

to the understanding of the 

complex regulation of muscle 

inflammation and fibrosis during 

muscular dystrophy. 

"By further defining the 

interaction between skeletal 

muscle-resident immune and 

stromal cells, we can better 

understand how chronic 

inflammation promotes muscle 

fibrosis and, more importantly, 

we can facilitate development of 

novel therapies for DMD," said 

senior author Armando Villalta, 

PhD, assistant professor in UCI's 

Department of Physiology & 

Biophysics. 

Ongoing work from Villalta's 

lab continues to focus on 

how distinct facets of the 

immune system regulate DMD 

pathogenesis and how these 

processes influence the efficacy 

and long-term stability of gene 

replacement therapy. 

Article available at: https://www.eurekalert.org/news-releases/622262 

45

RESEARCH 

STEM CELL TREATMENTS ALLEVIATE 

MUSCULAR DYSTROPHY SYMPTOMS 

IN COMPASSIONATE-USE STUDY 

BY ALPHAMED PRESS 

POSTED ON MEDICAL XPRESS, JULY 27, 2021 

Results of a compassionateuse 

study released in Stem Cells 

Translational Medicine show 

promising results for treating 

muscular dystrophies with 

mesenchymal stem cells (MSCs) 

derived from Wharton's jelly 

(WJ), a substance found in the 

umbilical cord. Led by doctors 

at Klara Medical Center (KMC), 

Czestochowa, Poland, these 

WJ-MSC treatments resulted 

in significant improvement in 

several body muscles in most of 

the patients, with no serious side 

effects. 

"Administration of WJ-MSCs 

in neurological indications is 

controversial; still, this paper 

shows that cell therapy is 

a reasonable experimental 

treatment option, although the 

eligibility criteria for treatment 

needs to be optimized," said 

Beata Świątkowska-Flis, M.D., 

Ph.D., neurologist, unit head 

at KMC's Polish Center for Cell 

46 

Therapies and Immunotherapy 

and study leader. 

Muscular 

dystrophies 

encompass a group of muscle 

diseases caused by mutations in 

a person's genes that result in 

progressive muscle wasting and 

weakness. This can eventually 

lead to death from respiratory 

failure or cardiomyopathy. 

"There are many kinds of 

muscular dystrophy, each 

affecting specific muscle groups, 

with signs and symptoms 

appearing at different ages, and 

varying in severity. Although 

over 30 unique genes are 

involved in their pathogeneses, 

a similar mutation in the same 

gene may cause a wide range 

of phenotypes, and distinct 

genes may be responsible 

for one identical phenotype. 

Because of this heterogeneity, 

pharmacologic treatments are 

limited," said Dr. Świątkowska- 

Flis. 

The current options include 

supportive care and drugs. While 

steroids are the gold standard in 

pharmacotherapy, they can have 

significant side effects, among 

them weight gain, puberty delay, 

behavioral issues and bone 

fractures. 

"Although stem cells cannot 

resolve the underlying genetic 

conditions, their wide-ranging 

therapeutic properties may 

ameliorate the consequences of 

the involved mutations. Our study 

describes the clinical outcomes 

of the compassionate use of WJ- 

MSCs in patients with muscular 

dystrophies treated in real-life 

settings," Dr. Świątkowska-Flis 

said. 

The study involved 22 people 

with varying types of muscular 

dystrophies. The group was 

equally divided between male

RESEARCH 

and female, and the median age 

was 33. Each person received 1–5 

intravenous and/or intrathecal 

injections per treatment course 

in up to two courses every two 

months. Muscle strength was 

then assessed by using a set of 

CQ Dynamometer computerized 

force meters. 

"In the group as a whole, we 

saw significant improvement in 

several body muscles, including 

limb, hip, elbow and shoulder," 

Dr. Świątkowska-Flis reported. 

"In the most successful case, the 

patient began moving without 

a crutch, stopped rehabilitation 

and rejoined a full-time job." 

While these results are 

impressive, the doctors caution 

that it is too early to determine 

the position of MSCs in treating 

muscular dystrophies. 

"For example, we don't know how 

long the therapeutic effect will 

last; it might be that the therapy 

should be repeated cyclically. 

Further studies are needed to 

optimize stem cell therapy both 

in terms of treatment scheme in a 

long period and possible synergy 

with pharmacological drugs 

and/or rehabilitation. Still, we 

believe the results are cautiously 

encouraging, especially in light 

of no other efficient treatment," 

Dr. Świątkowska-Flis said. 

"While use of mesenchymal stem 

cells in neurological indications 

is controversial, this study shows 

that cell therapy is a reasonable 

experimental treatment option 

for this rare group of muscle 

diseases," said Anthony Atala, 

M.D., Editor-in-Chief of STEM 

CELLS Translational Medicine 

and director of the Wake Forest 

Institute for Regenerative 

Medicine. "No side effects were 

observed and the data stemming 

from this study is potentially 

encouraging and of interest. We 

look forward to the continuation 

of this research to further 

document clinical efficacy." 

Article available at: https:// 

medicalxpress.com/ 

news/2021-07-stemcell-treatments-alleviatemuscular.html 

A Rollz rollator and wheelchair 

For more information visit www.rollz.com 

or email info@rollz.com. 

The Rollz Motion is known for combining two products in one. It is both a rollator and a transport chair, 

which is a unique combination. Thanks to this duo product users do not have to decide which one to take 

along, as they can take both with them and transform it when needed. This innovative product encourages 

individuals who require a mobility device to go out and travel because they love the way it opens their 

world again. So they are able to walk as far as they can with family or friends, and then transform it into a 

wheelchair to rest while still continuing the journey. 

47


7 HEALTHY LIVING TIPS 

FOR WHEELCHAIR USERS 

BY LAXMIKANT BANJAREY 

ARCATRON MOBILITY, JUNE 1, 2017 

day, but it can lead to scoliosis, pressure sores and 

the inability to breathe correctly. For these reasons, it 

is important to ensure that wheelchair users maintain 

good posture at all times. The best plan is to keep 

the feet, knees, hips and shoulders in a straight line 

while sitting. 

4. Be Mentally Healthy. 

Maintaining a healthy lifestyle as a wheelchair 

user is equally important as getting a comfortable 

wheelchair. Here are 7 tips that can help you live a 

healthy life. 

People in wheelchairs often report problems 

maintaining a healthy weight. They also suffer from 

mental health issues more than others, but this does 

not necessarily have to be the situation. It’s possible 

to live a healthy life in a wheelchair if you follow the 

7 simple tips. 

1. Engage in Cardiovascular Exercise. 

Cardiovascular exercise is necessary to maintain the 

health of your heart and lungs. The goal should be 

to raise the heart rate and become warm enough 

to begin sweating. This can be accomplished 

by swimming, playing basketball or wheelchair 

sprinting. Wheelchair users should push to do this 

daily. 

2. Get a Good Night’s Sleep. 

The first problem is usually shifting on the bed from 

the wheelchair. It can be resolved with a wheelchair 

that can be adjusted according to the height of the 

bed and has swivelling armrests to make it easy for 

the caregiver to life [sic], slide and shift the wheelchair 

users on the bed. It can be hard to find a comfortable 

position, so obtaining a good night’s sleep can be 

difficult. Comfortable pillows and cushions can help 

combat this problem. 

3. Maintain Good Posture When Sitting. 

Sitting comprises a large part of a wheelchair user’s 

Mental health is directly connected to physical health. 

Many people experience depression. They may begin 

to feel worthless because they cannot do as many 

things for themselves as others can. They can also 

experience anxiety. These conditions are treatable 

with counselling and medication, so it is important 

to talk to a professional or consult with the doctor if 

one is experiencing any of these symptoms. 

5. Prevent Pressure Sores. 

Maintaining one’s position for a long time can 

cause pressure sores. Prevent this by using pillows 

that relieve pressure, keeping your skin clean and 

changing your position every other hour. 

6. Take shower regularly and maintain hygiene 

It is a basic requirement of a human body to take a 

shower every day. Cleanliness and hygiene ensure the 

health and well-being of any person. Especially when 

a person is wheelchair bound, it becomes even more 

important to take a shower regularly. Most wheelchair 

users avoid taking a bath regularly because their 

wheelchair is not shower proof and taking help from 

a caregiver hampers their privacy. But, it is of utmost 

importance that you get showerproof. 

7. Travel 

Travel is an important part of any person’s life. 

Travelling opens up your mind to a new world with 

diverse culture and strengthens mental well-being. 

Thus, travelling should always be on the top of the 

list of wheelchair users but it is also essential to take 

precautions and make all the required arrangements 

like booking an accessible hotel, planning in advance 

and a lot more. 

Healthy mind, healthy body! 

48 

Article available at: https://arcatron.com/7-healthy-living-tips-for-wheelchair-users/


BREATHING PROBLEMS 

BY MUSCULAR DYSTROPHY NEWS TODAY 

• Shortness of breath, especially at rest 

• A cold that lasts for more than 10 days 

• Morning headaches 

• Daytime sleepiness 

Testing 

In muscular dystrophy, progressive weakness of 

respiratory muscles can result in varying degrees of 

breathing difficulty. 

One of the most important respiratory muscles is the 

diaphragm, which sits just below the lungs and helps 

in the process of inhalation, or breathing in, which 

supplies oxygen to the lungs. The weakening of the 

diaphragm in people with muscular dystrophy results 

in reduced oxygen intake and decreased lung function. 

Different muscles help in exhalation, or removal of 

carbon dioxide. Contraction of muscles in the abdomen 

during activity supports exhalation, while at rest, lung 

elasticity aides [sic] in the removal of carbon dioxide. 

In muscular dystrophy patients, the excessive workload 

on the lungs, due to poor diaphragm function and 

the weakening of abdominal muscles, hinders the 

elimination of carbon dioxide. 

Weakness in the muscles of the upper respiratory tract, 

or the nose and throat, causes difficulty breathing 

during sleep. This makes muscular dystrophy patients, 

therefore, prone to breathing problems while they are 

sleeping. 

Respiratory muscles also support coughing, and their 

breakdown causes coughing difficulties. 

Scoliosis, or the abnormal curvature of the spine, affects 

the structure of the chest wall, which also can contribute 

to breathing problems. 

Symptoms 

Monitoring breathing and coughing ability are vital for 

people with muscular dystrophy to support the early 

identification and management of breathing problems. 

Symptoms of breathing problems in MD patients 

include: 

• Shallow breathing and snoring 

• Difficulty sleeping 

• Wheezing 

When breathing problems are suspected, a trained 

pulmonologist may perform a series of tests to 

determine the strength of respiratory muscles to 

perform their function. 

These tests include: 

• Pulmonary function tests that are usually performed 

in children over age 5 

• Sleep studies to determine nighttime breathing 

patterns 

• Pulse oximetry to measure oxygen levels in the blood 

Treatment and management 

The treatment plan to address breathing problems 

in people with muscular dystrophy is based on the 

breathing symptoms observed. 

Children with muscular dystrophy are prone to 

respiratory infections such as pneumonia. Therefore, 

it is recommended that they receive pneumonia 

vaccination as a preventive measure. For acute 

respiratory infections, antibiotic therapy is prescribed. 

Chest physiotherapy in consultation with trained 

respiratory therapists, and the use of assistive devices 

such as vests, can help in clearing mucus, and prevent 

recurrent infections. 

Bronchodilators to open the airways can help in 

alleviating wheezing. They can be delivered using an 

inhaler or nebulizer. 

Ventilation is useful for patients with respiratory 

failure or hypoventilation (excessively slow breathing). 

Ventilation is the use of a machine (a ventilator) that 

helps the individual to breathe normally. There are noninvasive 

as well as invasive ventilation options available. 

Non-invasive ventilation is either through the nose, 

mouth, or full-face masks. Invasive ventilation involves 

inserting a tube into the windpipe, either through the 

patient’s mouth or nose, or through an incision in the 

neck. 

In some cases, surgery to correct scoliosis may be 

required to relieve the pressure on respiratory muscles 

and ease breathing. 

Article available at: https://musculardystrophynews.com/breathing-problems/ 

49


PHYSICAL THERAPY GUIDE 

TO MUSCULAR DYSTROPHIES 

IN CHILDREN 

BY VENITA LOVELACE-CHANDLER 

CHOOSEPT, JULY 10, 2018 

Muscular dystrophies include several genetic 

disorders that result in progressive muscle 

weakness and a loss of muscle mass, often termed 

muscle "wasting." The muscles that control the 

arms and legs (the voluntary muscles) are often 

the most involved, but different groups of muscles 

can be affected. Each form of muscular dystrophy 

progresses at a different rate. Several types of 

muscular dystrophies affect children; symptoms 

of the disease can begin at any time from birth to 

the teen years. Boys are affected more often than 

girls. Duchenne muscular dystrophy is the most 

common form of muscular dystrophy in children, 

occurring in approximately 1 in 3,500 to 6,000 

boys born in the United States each year. Physical 

therapists design individualized treatment 

programs to help children with muscular dystrophy 

reach their full potential. 

Physical therapists are movement experts. They 

improve quality of life through hands-on care, 

patient education, and prescribed movement. […] 

How Can a Physical Therapist Help? 

Physical therapists help children with muscular 

dystrophy maintain function by managing 

complications of the disorder's progression, 

such as muscle weakness and contractures. Each 

child with muscular dystrophy has unique needs 

based on age, the type of dystrophy, and the 

progression of symptoms. Physical therapists 

work with children and their families, as well as 

with other health care professionals, to develop 

individualized treatment plans to help children 

reach their full potential. 

The physical therapist is an important partner in 

health care and fitness for anyone diagnosed with 

muscular dystrophy. Physical therapy should begin 

as soon as possible after diagnosis and before 

joint or muscle tightness has developed. Physical 

therapists identify muscle weakness, and work with 

each child to keep muscles as flexible and strong 

as possible, help reduce or prevent contractures 

and deformities, and encourage movement and 

mobility for optimal function throughout all the 

stages of life. Each treatment plan is designed to 

meet the child’s needs using a family-centered 

50


approach to care. If assistive devices are needed, 

the physical therapist may collaborate with other 

professionals to determine the best walking aids, 

braces, or wheelchair for each child. 

Physical therapists know the importance of 

addressing the child's needs with a team approach, 

including all involved health care professionals, in 

order to provide holistic care to ensure mobility 

throughout the life span. 

Evaluation 

The child's physical therapist will perform an 

evaluation that includes a detailed birth and 

developmental history. The therapist also will 

ask about the child's overall health, and about 

any parental concerns. The physical therapist 

will conduct a physical examination and perform 

specific tests to determine the child's motor 

development, such as sitting, crawling, getting up 

to stand, and walking. The child’s therapist may 

conduct other tests to more objectively assess 

changes and the progression of the disorder over 

time, in order to predict when changes in care or 

mobility (wheelchair, bracing) might be indicated. 

Treatment 

Physical therapists work with children who have 

muscular dystrophy to prevent or reduce joint 

contractures, maintain or improve cardiorespiratory 

and muscle strength, adapt activities or the 

child’s home or school environments to promote 

movement and mobility skills, and increase daily 

activities, which encourage participation in the 

community. If your child has been diagnosed with 

muscular dystrophy, treatment may include: 

Passive and active stretching. Your physical 

therapist will perform gentle "passive" stretches 

for your child, gently moving their legs and arms, 

and teach you and your child how to perform active 

stretches in order to increase joint flexibility (range 

of motion) and prevent or delay the development 

of contractures. 

Exercises to maintain strength. Your physical 

therapist will teach you and your child exercises 

to maintain muscle and trunk strength and to use 

good posture and body mechanics throughout the 

life span. Your therapist will identify games and 

fun tasks that promote strength. As your child 

grows, your physical therapist will identify new 

games and activities to reduce the risk of obesity 

and increase heart health. Activities such as bike 

riding and swimming are great to consider; your 

physical therapist will help you make sure these 

activities are not too strenuous or fatiguing. 

Overexercising can damage muscles. Parents are 

encouraged to seek physical therapist services 

early in order to identify the best strengthening 

activities for their child. 

Exercises for breathing. Your physical therapist 

may provide a program to maintain good 

respiratory strength, or may work with respiratory 

therapists or speech therapists to design such a 

program. 

Improvement of developmental skills. Your 

physical therapist will help your child learn to 

master motor skills such as crawling, getting up 

to stand, walking, and jumping. Your therapist 

will provide an individualized plan of care that is 

appropriate based on your child's developmental 

level and motor needs. 

Physical fitness and activity. Your physical therapist 

will help determine the specific exercises, diet, 

and community involvement that will promote 

your child’s good health. When needed, mobility 

aids such as wheelchairs, splints and braces, and 

home devices may be prescribed to help maintain 

mobility. 

Physical therapy may be provided in the home or 

at another location, such as a community center, 

school, or a physical therapy outpatient clinic. 

Your child's needs will vary greatly as they age, 

and your physical therapist will adjust treatments 

as needed. Physical therapists work with other 

health care professionals, including speech/ 

language pathologists or occupational therapists, 

to address each individual's needs as treatment 

priorities shift. 

If your child is expected to have corrective 

orthopedic surgery for scoliosis or contractures, 

your physical therapist can assist in evaluating 

the need for equipment, orthopedic appliances 

used for support, or bracing that might be 

needed to foster a quick recovery during postop 

rehabilitation. Your physical therapist can also 

work on early mobilization postop to help with 

recovery and maximize your child's independence. 

Can This Injury or Condition Be Prevented? 

Genetic counseling is important for families that 

have a known, inherited dystrophy. However, 

many spontaneous mutations—which occur in the 

womb when neither parent has a known history 

of the disorder—can result in muscular dystrophy. 

Excellent prenatal care is important for all pregnant 

women; some women may want to be tested for 

specific diagnoses that can be detected during 

early pregnancy, including muscular dystrophy. 

Genetic testing can be used during pregnancy for 

a prenatal diagnosis of muscular dystrophy. You 

may be offered these tests if you're pregnant and 

51


there's a possibility that your unborn baby may 

have muscular dystrophy. 

Once a child is diagnosed with muscular 

dystrophy, the physical therapist and other health 

care professionals will provide education and 

therapeutic techniques to prevent or reduce some 

of the additional complications that might occur 

following birth such as developmental delay, poor 

strength and posture, contractures, and abnormal 

movement or walking patterns. 

The prognosis for people with muscular dystrophy 

varies according to the type and stage of the 

disorder. Some cases may be mild and progress 

slowly over a life span, while others may cause 

severe muscle weakness and functional impact. 

Some children with muscular dystrophy die in 

infancy, while others live into adulthood with mild 

to moderate disability. 

Physical therapists are dedicated to ensuring 

that children with muscular dystrophy and their 

families are not alone; they work tirelessly to help 

each individual reach their full potential. 

What Kind of Physical Therapist Do I Need? 

All physical therapists are prepared through 

education and experience to treat a variety of 

conditions or injuries. You may want to consider: 

• A physical therapist who is experienced in 

pediatrics and muscular dystrophies. Many 

hospitals dedicated to the care of children 

will have centers for treating children with 

neuromuscular disorders, and experienced 

pediatric physical therapists will be a part of the 

health professional teams at those hospitals. 

therapy. This physical therapist has advanced 

knowledge, experience, and skills that may apply 

to neuromuscular disorders, such as muscular 

dystrophy. 

• Experienced pediatric physical therapists who 

also understand the importance of working with 

the other health professionals who are needed 

to maximize outcomes for people with muscular 

dystrophy. 

You can find physical therapists who have these 

and other credentials by using Find a PT, the 

online tool built by the American Physical Therapy 

Association to help you search for physical 

therapists with specific clinical expertise in your 

geographic area. 

General tips when you're looking for a physical 

therapist (or any other health care provider): 

• Get recommendations from family, friends, or 

other health care providers. 

• When you contact a physical therapy clinic for an 

appointment, ask about the physical therapists' 

experience in helping children with muscular 

dystrophy or other neuromuscular disorders. 

• Be prepared to describe your child's symptoms 

and motor skills in as much detail as possible, 

and bring any records from other health 

professionals when possible. 

• You may want to work with a physical therapist 

at the specialty center and a physical therapist 

who works at a local pediatric practice, and who 

will work with you and your child in the home, 

school, or community environments. 

• A physical therapist who is a board-certified 

pediatric clinical specialist or who has completed 

a residency or fellowship in pediatric physical 

Article available at: https://www.choosept. 

com/guide/physical-therapy-guide-musculardystrophies-in-children 

A heartfelt thank you to Erik Andersen for 

the countless hours spent on developing 

MDFSA’s new online database and for being 

the drive behind creating interfaces with 

global registries. 

52


MUSCULAR DYSTROPHY 

AND SEXUALITY 

BY ROBERT SCOTT 

Let us start by getting one issue out of the way . 

. . sex, and being sexually active, is a normal part 

of life, whether you have been diagnosed with a 

neuromuscular disorder or not. Having a disability 

does not mean that you are no longer a sexual 

being with sexual needs like most other people. 

This article includes information from two online 

sources: (1) Sex and neuromuscular conditions, by 

Muscular Dystrophy New Zealand; and (2) Pleasure 

able: Sexual device manual for persons with 

disabilities by Kate Naphtall and Edith MacHattie 

of the Disabilities Health Research Network. 

Let’s dive right in and explain various terms that 

will be used. 

Sex and sexuality 

Sex is something we are exposed to in our 

everyday lives in one way or another, whether by 

reading about it, hearing it discussed or seeing it 

portrayed on TV or the internet. 

even harmful in nature. Sex and neuromuscular 

conditions goes on to explain this in more detail: 

Body image 

A basic understanding of sex and sexuality 

can help you sort out myth from fact and help 

you make good decisions about your sexual 

health. 

Our sexuality affects who we are and how 

we express ourselves. There's a wide range 

of how people experience their sexuality. 

Some people are very sexual, while others 

experience no feelings of sexual attraction 

at all. Your sexuality may be influenced by 

your family, culture, religion, media, friends, 

and experiences. No matter how important 

sexuality is to you, we all have thoughts, 

desires, attractions, and values that are 

unique. 

The important part to remember is that a great 

deal of what you see, read or hear about sex and 

sexuality is incorrect and at times confusing or 

53


Sexuality is about much more than just sex. It 

includes your body, including your 

• sexual and reproductive anatomy and body 

image 

‒ how you feel about your body 

your biological sex – male, female, or intersex 

gender – being a girl, boy, woman, man, or 

transgender, or genderqueer 

• your gender identity 

– feelings about and how you express your 

gender 

• your sexual orientation 

– who you're sexually and/or romantically 

attracted to, your desires, thoughts, 

fantasies, and sexual preferences 

• your values, attitudes, and ideals about life, 

love, and sexual relationships 

• sexual behaviors – including masturbation 

It's normal to have questions about sex and 

sexuality. And the good news is the more you 

know about it, the better you'll be able to 

take charge of your sexual health. 

Body image is how you feel about yourself and 

how you see yourself. If you were to look into the 

mirror, what would you think about the way you 

look? This is your body image. 

The reason why having a positive body image is a 

very important part of your overall sexual health 

is that if your view of yourself is positive, you are 

more likely to make healthier sexual decisions 

(such as wearing a condom during sexual 

intercourse to protect yourself and your partner). 

If you have a negative image of yourself you may 

not feel comfortable or confident enough to make 

these decisions. 

The most important part to remember is that 

body image is not just about what you look like 

physically but about how you feel about the way 

you look. Now what can you do if you have a 

negative body image? You can talk to someone 

you trust who can listen to how you feel, and you 

can also seek assistance from a therapist if need 

be. 

Sex and neuromuscular conditions gives the 

following tips for improving your body image: 

• Remember that health and appearance are 

two different things. 

• Accept and value your genes – you probably 

inherited a lot of traits from your family 

members, so love those traits as you love 

your family. 

• Keep a list of your positive qualities that 

have nothing to do with your appearance. 

• Surround yourself with people who are 

supportive and who make you feel good 

about yourself. 

• Treat your body with respect and kindness. 

People may choose to change their appearance 

in many ways, for a variety of reasons. If you 

want to change the way you look, be sure 

to have realistic expectations. If you have a 

negative body image, it is important to deal 

with the mental and emotional aspects of it 

in order for any physical changes to be truly 

successful. 

Some people choose to make lifestyle 

changes, such as adopting a specific diet 

and an exercise program, or change their 

bodies in other ways. Often, this can be a 

healthy choice. If you are planning to make a 

considerable change in your lifestyle, it can be 

a good idea to talk with a health care provider 

who can advise you about the healthiest way 

to do so. 

People also change their looks in other ways, 

such as coloring or processing their hair, or 

using products to change the appearance of 

their skin. Some changes can boost your selfesteem 

and body image, and some changes 

may not be as effective. The key is to have 

realistic expectations about how much 

changing your appearance can change how 

you feel about yourself.” 

Sex and neuromuscular conditions furthermore 

looks at common myths associated with sex and 

those affected with neuromuscular disorders. 

Myth 1 – Those living with disabilities, 

especially those in wheelchairs, cannot feel 

anything “down there” and therefore are not 

capable of having sex life. 

54


This one is very common and is believed by more 

people than you may think, all over the world. 

What is even more worrisome is that many parents 

of youngsters with disabilities are often confused 

about the extent to which sexual function is or 

isn’t affected. 

Neuromuscular disorders are not the same as 

injuries such as those affecting the spinal cord; for 

example, muscular dystrophy affects the voluntary 

muscles and the nerves that control them (they 

don’t affect much else). There are indeed some 

disabilities, such as multiple sclerosis, that affect 

the nervous system and in some cases sexual 

function, but these are different when from 

muscular dystrophy. 

It is important to understand the following, 

as explained in Sex and neuromuscular 

conditions: 

Sexual function is largely the result of an 

interchange of signals among sensory 

nerves, autonomic (involuntary) nerves, 

involuntary muscles (including those that 

line blood vessels and make them dilate or 

constrict), and the brain […]. People use their 

voluntary nerves and muscles while making 

love to enhance their experience and express 

affection, but these parts of the body aren't 

in the mainstream of sexual sensation or 

response. 

To be strictly accurate, there are a few 

exceptions here. There are voluntary muscles 

in the pelvic area in both sexes (around the 

vagina and at the base of the penis) that 

contract during orgasm […]. They contract in 

an involuntary way, under the control of the 

autonomic nervous system, but via signals 

from the voluntary nerves that normally 

control them. If these muscles are weakened 

by muscle disease or disorders of the nerves 

that control them, the strength of orgasm and 

ejaculation may be diminished. This type of 

muscle weakness varies in different disorders 

and even in people with the same disorder. 

It should also be said that some MDA-covered 

conditions do involve systems other than the 

voluntary nerves and muscles. Charcot-Marie- 

Tooth disease and Dejerine-Sottas disease 

involve sensory nerves, and, theoretically, in 

a severe case, some sexual sensation may be 

lost. In Friedreich's ataxia, many parts of the 

nervous system are affected, with sensation 

affected in varying degrees. The potential 

for decreased sexual sensation is present. 

Finally, two MDA-covered conditions -- 

myotonic muscular dystrophy and X-linked 

spinal-bulbar muscular atrophy (X-linked 

SBMA or Kennedy's disease) -- sometimes 

show hormonal abnormalities that have 

the potential to affect sexual function and 

fertility. 

In X-linked SBMA, male hormones (androgens) 

aren't transported into cells in the usual way. 

This condition, which only affects males, can 

affect fertility and, possibly, sexual function. 

In myotonic dystrophy, there are likewise 

hormonal abnormalities, in this case in both 

sexes fertility is sometimes affected. Men 

sometimes have atrophy of the testicles, 

while women sometimes have menstrual 

irregularities and miscarriages. People with 

myotonic dystrophy rarely report difficulties 

with sexual function. 

This goes to show that, while there are always 

exceptions to anything, people with neuromuscular 

conditions often do not experience impaired 

sexual functioning overall and are very capable of 

having a sex life. 

Myth 2 – Gradual reduction in ability and loss 

of interest in sex is inevitable if you have a 

neuromuscular disease. 

If we are all completely honest with ourselves, we 

are probably not going to be as sexually active 

at 50 years old as at 30. Whether we have a 

neuromuscular disorder or not, it all boils down to 

the same thing – planning and timing. If you and 

your partner want to have sex more often, you will 

need to do some planning to make it happen and 

be more proactive. 

Sex and neuromuscular conditions explains 

this very nicely: 

Planning and timing, without being too 

hung up on the idea of spontaneity, is the 

key. You have to be a problem solver," says 

Mitch Tepper, who is pursuing a doctorate in 

human sexuality education at the University of 

Pennsylvania. Tepper, who injured his spinal 

cord as a young man and has since married 

and fathered a child, likes to remind students 

that most people plan their lovemaking, and 

that "the Friday night sex you had in high 

school or college was one of the most planned 

55


events in history." Contrary to popular belief 

and TV soap operas, he says, "There isn't all 

that much sex on the kitchen table happening 

out there. Some – but not much." 

Even if you end up making love less frequently, 

identify your ideal conditions and time your 

lovemaking to coincide with them. "Ask 

yourself, when am I most rested? When do I 

have the most energy?" Tepper recommends. 

"Maybe you should decide on some special 

time, even if it is not as frequent as you'd like. 

Timing should take into account times when 

you're not stressed or fatigued." 

People with neuromuscular disorders are 

more likely to develop respiratory and cardiac 

problems, although they're common in the 

general population, too. Sexual intercourse 

generally uses about as much energy as 

walking three miles an hour, and that can be 

a strain for people with weakened respiratory 

or cardiac muscles. Some positions require 

less energy than others, so experiment. Many 

people find a side-lying position easier, and 

some recommend a waterbed. Keep in mind 

that not all sex has to be intercourse, and not 

all intercourse has to end in an orgasm. 

Of course, respiratory and cardiac problems 

should be evaluated and treated by a doctor, 

for the sake of your sex life – and your life. 

Safety should always remain a priority and 

there can be many reasons for a decrease in 

sexual activity. These can be traced to possible 

medication side-effects, cardiac problems, etc. If 

you are experiencing any problems then it is always 

advisable to contact your medical practitioner to 

ensure that you are doing everything safely and 

that any health problems are treated correctly. 

Your overall health also has a great impact on 

your life so it is important to pay attention to 

your diet, exercise to any degree you are able to 

(with medical guidance of course), and ensure you 

always get enough rest. 

Myth 3 – You can protect a disabled teenager 

from pain and disappointment by discouraging 

romantic relationships and ignoring an 

awakening sex drive. 

This is something that should be approached with 

the utmost care, because discouraging romantic 

relationships and associated sexual feelings could 

cause a lot more harm than good. 

Almost all teenagers, whether with or without 

disabilities, are going to develop sexual feelings at 

some point and an increasing need to be involved 

in intimate relationships. This should be treated 

with respect at all times as long as it falls within 

the range of your own family values. 

It important to remember that a great number of 

people living with disabilities do attract partners 

and go on to have very fulfilling lives and families 

too. 

Sex and neuromuscular conditions shares an 

enlightening personal story as well as some 

insights which are quoted below: 

Jerry Ferro, a mental health counselor in 

Altamonte Springs, USA, has spinal muscular 

atrophy and has used a wheelchair since 

childhood. 

He dated in high school, but his parents didn't 

like the idea. "My parents said, "Jerry, you're 

only going to get hurt. You don't want to go 

that way. Just give it up and don't think about 

it.'" When they thought a relationship was 

getting serious, they told him, "Don't think 

about it. Don't call her too much. 

Ferro still recalls with some bitterness 

his father's words shortly before his first 

marriage. "Now Jerry, what could you possibly 

have to offer?" Ferro says that question and his 

parents’ general attitude probably hastened 

an ill-advised betrothal. "I jumped at the first 

person who fell for me, rather than feeling 

more confident about my ability to develop 

a relationship. I said, "Here Dad, take that!'" 

(He's now in a second, happier marriage.) 

Parents need to be supportive, but realistic, 

as a disabled adolescent begins to develop 

sexually, Ferro advises. He thinks it's all 

right for parents to express their concerns 

but not to be as harsh as his own parents 

were. "I would have liked some support for 

my sexuality," he says. "It's really important 

to support the naturalness of a developing 

interest in sex in adolescents, and also 

important to be realistic about limitations. 

Just as the person with a disability has to 

adapt to architectural barriers, they also have 

to adapt to social barriers. That's the key." 

Adolescents with disabilities should be given 

the same kind of sex education that parents 

feel is appropriate for other children in the 

56


family, Ferro says. […] 

[…] 

Parents who say they want to discourage a 

child's relationships because he or she will 

"only get hurt," Ferro says, "Maybe he or she 

needs to discover that for themselves. We 

can't predict the future, nor all the people 

that they'll meet in their life." 

Myth 4 – Lack of sex is bad for your health. 

This one is very easy to refute: there is absolutely 

no proof that a lack of sex or remaining abstinent 

has any negative effects on your health. 

Myth 5 – A sexual relationship is the only way 

to overcome loneliness. 

We can confidently state that this is not the case 

at all! Living a fulfilling life is very much a personal 

journey. This journey is different for everyone, 

and there are certainly people who do not need 

sex to live and feel fulfilled. Satisfaction and 

fulfilment can come from so many sources, such 

as friendship, family, and religious or spiritual 

beliefs. 

Sex and neuromuscular conditions has a very 

important note to remember: 

A decision to lead a non-sexual life is 

a personal one and a valid one. Make 

sure it's your choice, however, and not a 

restriction based on neglected, correctable 

health problems or acceptance of society's 

prejudices. 

Sexual devices for people with disabilities 

The following paragraphs provide a detailed 

description of sexual aids that can be used. The 

information comes from the text of Pleasure able: 

Sexual device manual for persons with disabilities 

(hereafter referred to as Pleasure able). 

Disclaimer: This information is not prescribed in 

any way and is simply meant to provide information 

on types of aids and devices that could be used 

and to provide examples of them. 

Pleasure able lists and describes devices for those 

living with disabilities that could assist in respect 

of the following categories: 

• Limited hand function 

• No hand function 

• Set-up by caregiver (if no hand function) 

• Limited strength in the upper extremity 

• Limited flexibility (for positioning) 

We will cover a few examples as we move 

forward but would like to begin with some 

information on positioning as quoted from 

Pleasure able (pp.13‒16). 

Positioning for sexual activity 

“If anything is sacred the human body is 

sacred.” - Walt Whitman 

One Partner on Top 

Experiment with both the ‘top’ partner and 

the ‘bottom’ partner assisting in sexual 

movement (thrusting or otherwise). For the 

‘bottom’ partner, use pillows behind the 

lower back and/or knees for support. Using 

a wedge pillow under the ‘bottom’ partner’s 

knees can help alleviate spasm, reduce lower 

back pain and offer easier access to genitals. 

Side-lying positions 

In a ‘spoon’ position, one partner lies in front 

of the other, both facing the same direction, 

on their sides. This position can be useful for 

people who wear catheters and have a leg 

bag. A cushion between a person’s legs can 

ease hip discomfort and facilitate penetration 

or sexual acts from behind. Side positions 

facing each other can allow both partners to 

be involved in the thrusting of penetration or 

sexual act. Alternatively, one person can lie on 

their side with the other partner penetrating 

from behind with their body positioned at a 

90-degree angle (this reduces the need for 

upward thrusting). 

Using a Chair or Wheelchair 

Removable armrests and removable lateral 

supports can increase the options for sex in 

a wheelchair. The ‘top’ partner can sit on the 

‘bottom’ partner’s lap face-to-face, facing 

away, or facing to the side for penetration 

or other play. The person in the wheelchair 

can also be penetrated or receive oral sex 

by moving their buttocks to the edge of 

their chair and having their partner kneel or 

57


sit in front of them. In wheelchairs without 

removable arms, try having the ‘top’ partner 

sit on the ‘bottom’ partner’s lap, facing away, 

using the armrests for support. Couples can 

also choose to transfer into a chair with no 

armrests to increase ease of positioning. 

Supportive Rear positions 

In these positions, have the ‘bottom’ partner 

lie on his/her stomach (with option of having 

a pillow under their hips or belly). The ‘top’ 

partner can try standing with their partner 

lying at the edge of a bed/table/couch if 

straddling on their knees is uncomfortable. 

This positioning provides optimal balance for 

the ‘bottom’ person and allows them to help 

more with thrusting. 

Examples of sexual aids and devices 

Pleasure able provides the following examples (pp. 

20–22). The information is selectively summarised 

here. 

Wahl Massager 

This is a powerful massager which can be used 

on whole body. It has different speed settings and 

attachments, and it plugs in so no batteries are 

required. It is quiet and even has a heating function 

(this function should not be used on areas that do 

not have sensation). 

Note – To use you need an active grasp, and to 

be able to manipulate 2.2 kg weight. Big switches 

allow for easy on/off. You also need to be able to 

reach to access the genitals. 

Universal Cuff 

This item is a leather cuff with elastic strap that can 

hold a variety of objects including sexual devices 

such as dildos and vibrators. It is adjustable for 

different hand sizes, and a plastic extender is even 

available to assist with self/partner penetration. 

Note – No active grasp is needed, but you need the 

ability to manipulate the device being used (i.e. 

extension and flexion of arms). 

Hitachi Magic Wand 

This device is a high intensity 2-speed vibrator that 

plugs into the wall and that has a large tennis-ball 

size head and even a G-spot attachment called a 

“Gee-Whiz” available. 

Note – The device weighs 0.6 kg, and you need an 

active wide grasp. The vibrator is controlled by a 

dial switch, but assistance may be required to plug 

in. The device is approximately 30 cm long, ideal 

for people with limited extension in their arms. 

Fleshlight 

This product is a realistic penetration device which 

is made with “Real Feel Superskin” (non-allergenic, 

no latex, no silicone). It is very easy to grip with 

one or two hands and is a discreet option that 

comes with a screw-on lid. It does not need a plug 

point or batteries as no power is required. 

Note – The device is lightweight and you need an 

active grasp. 

Thighrider 

This is a leather harness for a dildo, worn around 

the thigh to use with a partner, and it utilises 

Velcro straps for a secure fit. The dildo socket is 

backed with a plastic ring to prevent stretching. 

Note – It requires mobility and/or set-up to put 

on and take off the thigh. Ensure skin integrity 

by checking for any change in skin colour (i.e. 

redness) or irritation. Loosen or take off the 

harness if this occurs. 

Intimate Rider 

IntimateRider was designed by a person with 

C6-7 quadriplegia to facilitate positions for 

sexual activities and to aid with thrusting as 

well as sexual movement. A small seat glides 

on precision bearings to produce a natural, fluid 

motion. Movement occurs with minimal upper 

body motion and it can fold up discreetly and has 

non-skid feet. 

Note – You need to be able to transfer onto and 

off the product and to set up in a location with 

room for maneuvering. The user may also require 

accessible supports such as grab bars or counter 

tops. 

Liberator Shapes 

These are foam positioning pillows that can be 

used in a variety of ways during sexual activities. 

They come in a variety of shapes such as wedge, 

ramp, and rocking pillows. 

Note – You need to be able to transfer onto and off 

the pillows and may need assistance to position 

them. 

58


We hope this article is helpful and informative 

and may open your sexual life to a new world of 

possibilities. 

Sources 

Muscular Dystrophy New Zealand. (No date). Sex and neuromuscular conditions. Auckland. https:// 

www.mda.org.nz/media/776ee85c-c16c-4622-a631-c78fb4786612/iPzAJg/MDA%20Services/ 

Resource%20Library/Sexuality.pdf 

Naphtall, K. and MacHattie, E. (2009). Pleasure able: Sexual device manual for persons with 

disabilities. https://icord.org/wp-content/uploads/2019/09/PleasureABLE-Sexual-Device- 

Manual-for-PWD.pdf 

Amazon Echo 

Technology can greatly 

improve and assist the daily 

lives of people living with a 

disability. 

Technology can greatly 

improve and assist the daily 

lives of people living with a 

disability. 

Amazon Echo is a hands-free device with an integrated virtual 

assistant called ‘Alexa’, which works similar to Apple’s ‘Siri’. Using 

voice commands you can ask Alexa to perform a variety of tasks like 

play music, make a call, write a note, set an alarm, send a text, book 

an Uber or even watch video. 

59

Gauteng Branch News 

Casual Day 2021 

We would like to thank all of our supporters for taking part in Casual Day 2021 on 3 September. 

Your support helped us generate much needed funding and awareness. 

Thank you for all your efforts and for making Casual Day 2021 a huge success! 

947 Ride Joburg 

We would like to thank all those who signed up to 

take on the 947 Ride Joburg for 2021 as part of 

the Muscle Riders. 

We are very excited to once again have had a 

team taking on the road race as well as a group 

of ten youngsters for the kids race. 

WEST RAND 

Also, thank you to our generous sponsors for 

their donations towards our team jerseys this 

year. They are Nashua West Rand, Cool Tech and 

CE Mobility. 

We are humbled by your support and thank you 

for joining us in the fight to bring hope to those 

affected by muscular dystrophy. 

Blue Bottle Liquors 

We would like to thank Blue Bottle Liquors for their 

continued and generous support to the Foundation 

over the years. We were invited to a breakfast at the 

Riverstone Lodge recently, where the Blue Bottle 

Cycle Team were having a breakfast run. 

We were so happy to see that the entire team had 

our MDF logo proudly displayed on their team 

jerseys. We were also presented with a cheque 

for funds raised by Blue Bottle Liquors from their 

annual golf day and were overwhelmed to hear 

that we would again be the beneficiary of the next 

golf day, in 2022. 

Thank you Blue Bottle, your support means the world to us, and we are so thankful that you 

continue to support us on a regular basis. 

60

Gauteng Branch News 

September 2021 Ekurhuleni Awareness 

Campaigns 

On 7 September 2021 an 

awareness campaign was 

conducted at Ithembelihle LSEN 

School with the physiotherapy 

department, which is highly 

valued for the enormous work that 

they are doing to support learners 

living with muscular dystrophy 

in their school. The group had a 

fun-filled day in celebration of 

Muscular Dystrophy Awareness 

Month by going green and also did stone painting. RocoMamas 

Stoneridge sponsored the event with burgers and drinks. Pictures 

captured were posted on the Muscular Dystrophy Foundation’s 

Facebook page, and a video was also posted on RocoMamas’ 

Facebook and Instagram pages. Learners also showed their 

different talents by singing and acting. 

On 28 September 2021 an awareness campaign was conducted at 

Sunward Christian Academy in Boksburg, where a presentation was 

done by Beauty Mathebula (Social Worker) and Rudzani Mukheli 

(Social Auxiliary Worker). The event was attended by learners and 

teachers at the school, and it was great fun as learners were eager to 

know more about muscular dystrophy. Questions about muscular 

dystrophy were asked and 

learners were enlightened about 

the condition. Drawings, hand 

paintings and stone paintings 

were done in celebration of the 

Muscular Dystrophy Awareness 

Month, which the school enjoyed 

being part of. 

61

Cape Branch News 

A DREAM MADE POSSIBLE 

by Samantha Muller 

Our journey started when I met this shy 

girl, Tarren Thomas, at Red Cross Hospital 

earlier this year. Tarren suffers from muscular 

dystrophy but is still awaiting her 

correct diagnosis based on international 

research she participated in. Tarren is currently 

in matric at De Kuilen High School. 

Her mother mentioned that Tarren would 

like to further her education next year but 

would prefer studying online due to her 

condition. Travelling by public transport, 

for example, is one of her biggest fears, 

and the family has no other means of transport 

to get her to an institution. She therefore 

needs a laptop to assist her with her 

studies. 

I then decided to contact the Reach For A Dream Foundation to find out if they could assist. On 10 November 2021, 

Tarren had the surprise of her life when Asanda and the team from Reach For A Dream made her dream come 

true. She was so happy, and her mother and grandmother expressed their gratitude to the Muscular Dystrophy 

Foundation and Reach For A Dream, who assisted in making her dream possible. 

IN MEMORIAM 

In loving memory of Antoinette Esterhuizen 

By Win van der Berg 

So saddened by this news ‒ I have lost a special and beautiful friend who was an extraordinary example 

to every one of our Muscular Dystrophy family. Antoinette was such a generous and insightful young lady 

and a great inspiration to all who knew her. Her gentle spirit and exceptional courage were amazing to 

witness. She was a born leader with great vision. My heartfelt condolences to her wonderful family, to 

her exceptional mom and dad and to her loving husband, Marius, who brought her so much joy. 

62

Enquiries: (021) 592 3370

MDF Magazine Issue 66 December 2021

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