MDF Magazine Issue 69 December 2022

MAGAZINE
Summer Issue 69
December 2022
Living
well with a
disability
The true
cost of
disability
Call for SA to
improve SMA
awareness
Meet our new ambassador

CONTENTS
MDF MAGAZINE
MDFSA News
MD Information
20 Call for SA to improve SMA awareness
22 Physiotherapy
23 Occupational therapy
24 Ventilation
28 DG-5506 shows promise at reducing BMD damage
30 The true cost of disability
32 Living well with a disability
35 New discovery changes the understanding of DMD
Regular Features
27 The View from Down Here
36 Sandra’s Thoughts On…
38 Doctor’s Corner
39 Random Gravity Check
Published by:
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
E-mail: gmnational@mdsa.org.za
Website: www.mdsa.org.za
Future Issues: March 2023
(Deadline: 1 February 2023)
Publishing team:
Managing editor: Gerda Brown
Copy editor: Keith Richmond
Design and layout: Divan Joubert
Cover photo of Liam van Vuuren
2
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.

MDFSA Notice Board
To learn more about the Muscular
Dystrophy Foundation of
South Africa Foundation, please
visit our
website at www.mdsa.org.za.
Subscription and contributions
to the magazine
We publish three issues of MDF
Magazine a year. If you have any
feedback on our publications,
please
contact the National Office by e-
mail at national@mdsa.org.za or
call 011 472-9703.
How can you help?
Contact the National Office or
your nearest branch of the Muscular
Dystrophy Foundation of
South Africa to find out how you
can help with fundraising events
for those affected with muscular
dystrophy.
NATIONAL OFFICE
E-mail: gmnational@mdsa.org.za
Website: www.mdsa.org.za
Tel: 011 472-9703
Address: 12 Botes Street, Florida
Park, 1709
Banking details: Nedbank, current
account no. 1958502049,
branch code 198765
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Cape)
E-mail: cape@mdsa.org.za
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
7460
Banking details: Nedbank, current
account no. 2011007631,
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
E-mail: gauteng@mdsa.org.za
Website: www.mdfgauteng.org
Website: www.muscleriders.
co.za
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida
Park, 1709
Banking details: Nedbank, current
account no. 1958323284,
branch code 192841
Pretoria Office
KZN BRANCH (KZN & part of
Eastern Cape)
E-mail: kzn@mdsa.org.za
Tel: 031 332-0211
Address: Office 7, 24 Somtseu
Road, Durban, 4000
Banking details: Nedbank, current
account no. 1069431362,
branch code 198765
Thank you to Roche for their generous donation to make the
awareness campaigns during August and September 2022
possible.
3

MDFSA NEWS
Celebration of MD Awareness Month
2022 by the MDFSA National Office
By Sarie Truter
MDFSA celebrated the international Muscular Dystrophy Awareness
Month during September by running the “Get into the Green Scene”
campaign for the fifth consecutive year.
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 official colour (green) for MD with an eyecatching
image. Affected members, their friends and family as well as
various Business organisations participated in the campaign by posting
their “green” photos on the MDFSA Facebook
page.
We had a very successful campaign this year, with many new faces
participating. Overall 36 organisations and 35 individuals participated.
A special thanks to all our members, friends of the Foundation, the MDF branches and the organisations
for taking part in our campaign.
See you again in 2023!
4

MDFSA NEWS
Generating SMA awareness with Roche
By Robert Scott
The National Office of MDFSA was fortunate enough to secure a grant from the large pharmaceutical
company Roche. The grant gave us the opportunity to raise awareness around spinal muscular atrophy
(SMA) during the international Spinal Muscular Atrophy Awareness Month in August 2022.
Our role as an organisation is to raise awareness of the services rendered by the Muscular Dystrophy
Foundation of South Africa and awareness of muscular dystrophy to dispel the lack of knowledge, mythologies
and stigma associated with the disease. Awareness promotion is an important aspect of the
work the Foundation does.
As a result of the grant from Roche we were able to print posters and develop a comprehensive information
manual focused on SMA. These materials were distributed to schools and healthcare professionals
across South Africa. We would like to thank Roche for their generous grant and support.
5

MDFSA NEWS
Investing in genetic testing
By Gerda Brown
All the different types of muscular dystrophy (MD) are
caused by genetic mutations. Genetic testing involves
analysing a person’s DNA to detect a mutation known
to cause a specific disease. This type of testing is typically
done with cells in blood, tissue or saliva.
No major health risks are associated with diagnostic
genetic testing. However, as stated in Muscular
Dystrophy News (2022), “undergoing this kind of testing
often is daunting and stressful, and the results of specific
tests may be complex and hard to understand
without expertise. Genetic counseling is widely recommended
to help in navigating these issues”.
Researchers Leung and Wagner (2013) write:
the specific mutation, treatment will not be accessible.
The Foundation is currently in a position to assist with
genetic testing for spinal muscular atrophy (SMA),
limb-girdle MD (LGMD) and facioscapulohumeral MD
(FSHD). Please contact Gerda Brown by telephone
(011 472 9703) or email (gmnational@mdsa.org.za) if
you are interested in undergoing genetic testing.
References
Leung, D.G. & Wagner, K.R. 2013. Therapeutic
advances in muscular dystrophy. Annals of Neurology,
74(3): 404-411. https://www.ncbi.nlm.nih.gov/pmc/
articles/PMC3886293/.
The future of muscular dystrophy research promises to
be both dynamic and productive, as great strides have
been made in our understanding of the mechanisms
underlying these diseases. These advances in knowledge
are reflected in the proliferation of clinical trials
and observational studies …. In a field where the traditional
approach to treatment has often been one of
acceptance and sympathetic fatalism, this new opportunity
for optimism and intervention is both revolutionary
and welcome.
New treatments like gene replacement therapy will
be available soon for conditions other than SMA, and
researchers are on the brink of finding solutions that
could be approved by overseas regulators such as the
U.S. Food and Drug Administration (FDA).
In respect of the diagnosis of MD, genetic tests are
the most important tool that can be used to diagnose
patients accurately. One of our core goals as an organisation
is to encourage our members to confirm their
clinical diagnosis with a genetic test so that they can not
only manage their specific disease and phenotype proactively
but also have access to treatment options when
they become available. Without genetic confirmation of
6

MDFSA NEWS
MDFSA Mascot
Congratulations to Divan Joubert for winning the mascot design competition.
Just like our new mascot, we need a name that is out of this world for the little guy. Share your
suggestions for a name and stand a chance to win R500.
Please share your suggestions with Gerda Brown at gmnational@mdsa.org.za or on our Facebook page.
7

MDFSA NEWS
MEET
OUR NEW
AMBASSADOR
I am Liam van Vuuren, aged 35. An entrepreneur within
the marketing sector and dance instructor focusing on
Latin & Ballroom. I have a simple motto and that is
to know your WHY. This is your purpose, this is knowing
what drives you, what inspires you, and what makes
you feel complete - once you know this, your path and
choices will be easier to determine.
For me it is advocating for those who can’t with two
platforms close to my heart. I actively work to promote
awareness around Dementia, a disease that my grandmother
suffered from as well as starting uncomfortable
conversations surrounding men’s mental health and
getting men to accept that they are allowed to feel their
emotions, regardless the traditional, and stereotypical
norms surrounding what it is to be a man.
Pageantry has truly allowed me the opportunity and
platform to reach many and advocate to the numbers.
My world changed when I was introduced to the world
of title holders, when I was chosen as Mr. West-Rand
2021/22, my perception of pageants changed, as I realised
that these are platforms that grow, change and
inspire – not just yourself, but a community.
During my reign, I was allowed many opportunities to
address matters, meet inspirational people and make
a difference within my community. Having the desire to
do more, I entered Mr. Central South Africa 2022/23,
hosted by Central South Africa Pageants, and after an
amazing pageant journey I was fortunate enough to be
chosen as the official Mr. Central South Africa 2022/23
representative. Now representing not just my home, the
west rand, but all provinces centralised in South Africa.
It is my goal to educate and change mindsets in all areas
that I am fortunate enough to move within. We live in
a community that don’t get exposed and educated on
the more important matters that shape the people that
form our communities. We need to start having uncomfortable
conversations that lead to mind shifts, how we
approach daily encounters and the way we perceive the
world. Thus, when the Muscular Dystrophy Foundation
of South Africa (MDFSA), crossed my path I knew that
this is where I can make a difference.
We need to start educating our communities about this
disease, as this is not just something that effects the person
diagnosed, but the family and those around them.
The MDFSA aims to do just that - educate, assist and
make a difference.
Using my platform, I hope that this partnership can
change the way we see people with disabilities and allow
then the same courtesy, love and support that we
allow those that are able bodied. We need to start accepting
that NORMAL consists of all things different and
unique.
8

MDFSA NEWS
A support group brings people together who are going through, or have gone through, similar
experiences; it provides them with an opportunity to share personal experiences and feelings, coping
strategies, or firsthand information about diseases or treatments.
If you want to join a support group, please contact Gerda Brown at gmnational@mdsa.org.za or
011 472 9703.
Support groups are active for each of the following:
• Spinal muscular atrophy (SMA)
• Congenital muscular dystrophy (CMD)
• Limb-girdle muscular dystrophy (LGMD)
• Duchenne muscular dystrophy (DMD)
• Facioscapulohumeral muscular dystrophy (FSHD)
Support groups
The Muscular Dystrophy Foundation of South Africa, Gauteng Branch, would like to thank all our loyal supporters who
assisted us in selling Casual Day stickers for the 2022 campaign.
• Wheelchairs on the Run
• Sibanye Stillwater
• Advanced Assessment & Training
• Netcare
• Kings School
• CE Mobility
See you again for Casual Day 2023
9

MDFSA NEWS
GOODBYE TO WIN VAN DER BERG
FROM THE CAPE BRANCH
BY LEE LEITH
The committee, staff and branch members of the Cape Branch say good bye to Win after many years of loyal service
to the Foundation, the Branch and in particular to those affected by muscular dystrophy. She has been a committee
member and Chairman for many years and kept an eye on the office and staff with great efficiency and many new
ideas.
Win has served with enthusiasm, encouragement and always willing to go the extra mile to ensure the best possible
service to members. Her devotion to the children at the LSEN schools has been remarkable. We wish Win all the
very best in her retirement and since she has promised to be in the background as a consultant we will still be able to
see her from time to time. We wish Win and Coen, her husband, a blessed and peaceful Christmas and contentment
together.
10

MDFSA NEWS
GAUTENG BRANCH CELEBRATES
MUSCULAR DYSTROPHY
AWARENESS MONTH 2022
BY BEAUTY MATHEBULA
In September the Gauteng Branch participated in raising awareness of
muscular dystrophy by means of the following activities and presentations.
The MD support group at Ithembelihle LSEN School prepared for a fun
walk for the Muscular
Dystrophy Awareness Month by creating a poster with quotes from each
member.
The group also prepared for the month by selling green ribbons, and the
funds accumulated were used to buy presents for the group members.
The group also did a fun walk on 13 September 2022 at East Rand Mall.
Members were dressed in green, drawing attention and raising awareness
about muscular dystrophy. The group enjoyed a meal and dessert treat
sponsored by McDonald’s East Rand Mall.
An excursion was also planned
through which group members
at Ithembelihle LSEN School
were treated to a movie at Ster-
Kinekor East Rand Mall on 21
September 2022. The movie,
popcorn, drinks and chocolate
bars were sponsored for all
group members by Ster-Kinekor.
Another presentation was done at Ecaleni LSEN School, which is a new
LSEN school in Tembisa. The staff members engaged with the presentation
and showed great appreciation of the required knowledge about
muscular dystrophy, as they were working with learners affected with the
condition. Our appreciation goes to speech herapist Mary-Anne Zinda,
who arranged the event for the school with the MDF social worker.
Special thanks also to Kgoale Thapelo, a member of the Foundation,
who was one of the speakers at the event and enabled theaudience
to understand muscular dystrophy as he related his life journey with
Duchennemuscular dystrophy.
A presentation was also done at Ezibeleni School.
In addition, presentations were done at Remme-Los independent living
centre and at various local clinics, such as Dukathole Clinic, Wanneburg
Clinic, Ramokonipi Clinic and Weltevreden Clinic.
Furthermore, a radio interview was done with Lekoa FM on 21 September
2022.
11

MDFSA NEWS
MUSIC
MARATHON
IN GAUTENG
BY ROTHEA LOUW
Everybody knows what the pink ribbon means when they
see one pinned on a person’s clothes, but few know what
the green ribbon stands for.
On Saturday 29 October 2022, the Lizette van Niekerk
Music School held a music marathon to create awareness
of muscular dystrophy. Lizette’s idea quickly led to a carnival
atmosphere, as small stands opened business for
the day. There was enough to eat and drink, and children
could have fun in play areas while they waited for their
turn to participate. The music included performances by
individuals, by two together (duets) and by groups.
From 09h00 till 16h30 many of Lizette’s learners took part in the
marathon. The music created a festive mood as families and
friends came along to listen to the pianists. Many of them were
young beginners and some were experts! It was good to see
that there were boys and girls as well as adults who participated
in the marathon.
Overall 32 musicians participated, the youngest learner being
7 years old and the eldest 40. With families flowing in and out
during the day’s programme, the MDF had ample opportunity
to tell them about our own programmes and activities.
Lizette’s music school is located at the Presbyterian Church in
Linden. She presents programmes for music stimulation, recorder
(wooden flute) and piano as well as group sessions. For any
information about her programmes, contact her at 082 926 5549.
12

MDFSA NEWS
KZN BRANCH’S AGM 2022
The 17 th of September 2022 was marked on the calendar
of the Muscular Dystrophy Foundation of South
Africa’s National Office and all its branches for their
annual general meetings. The Kwa-Zulu Natal Branch
embarked on this day slightly differently this year to
include their September “Get into the Green Scene”
Muscular Dystrophy Awareness Day. This year’s
AGM and Awareness Day for KZN broke all records
in terms of attendance. Fifty-three guests, made up of
affected members, parents, volunteers and friends of
the Foundation, graced both the events.
Guests were served with snacks and refreshments on
arrival whilst proceeding to register their attendance
at the entrance of a decorated marquee bearing the
colour green, in line with the “Get into the Green Scene”
project, and also the colours red, white and black, the
official colours of the Foundation. Guests were in awe
of the warm welcome by volunteers, who guided them
on the proceedings for the day and ensured that they
were served with refreshments and snacks.
The AGM for the KZN Branch commenced under the
watchful eye of the branch’s IT vendor on standby, who
volunteered his time to ensure that there were no online
meeting link challenges for guests who wanted to join
the AGM electronically.
After the branch AGM, guests were immediately linked up
with the National Office’s AGM, which was projected onto a
big screen. This allowed guests to have a view of the national
AGM.
On completion of the AGM, guests were served with lunch
catered for by the KZN Branch, comprising a vegetarian
breyani, dhall, salads and refreshments.
After lunch, guests were escorted to the “Get into the Green
Scene” area to attend the Awareness Day events.
The KZN Branch wishes to place on record its gratitude to
all who attended the AGM to discuss the 2021–2022 financials
and who participated in making the event a success.
We had a record- breaking attendance, the highest since the
branch opened. A special thanks also goes to all donors and
volunteers and to our branch management.
13

MDFSA NEWS
MESSAGE FROM MANAGEMENT
AT THE KZN BRANCH
The management and EXCO of the KZN Branch of the Muscular Dystrophy Foundation is privileged to
send out this 2022 message to all our affected members, parents, guardians, friends of the Foundation,
donors and networking colleagues. This year, 2022, has once again been a difficult one financially for
many of you, both personally and in your respective businesses. As has often happened in previous
years, many donors are holding on to their cash to prepare themselves for any further financial crisis
that the world and the country may be heading towards. Next year will no doubt be a better year.
We pass on our condolences to the families of all our affected members and loved ones who have
passed on this year, and we pray that you continue to remain strong in the days ahead. We urge you to
keep in touch with us.
For those of you who will be going away on your well-deserved break, we urge you to stay safe and take
heed of weather patterns, high volumes of traffic and crime hotspots. Over and above these factors,
please take note of the following:
● Keep additional stocks of medication.
● Keep the emergency numbers of your doctors, pharmacies and hospitals.
● Keep an emergency torch on hand.
● Ensure that your vehicle is serviced and its tyres are checked.
● Keep in touch with your closest friend or relative during your travel so that they know where
you are.
● Keep an umbrella and an emergency blanket in your vehicle for unexpected cold weather.
● Keep doors locked at all times during your travels.
We would also like to thank all our loyal donors who supported us in ensuring that our branch was
operational and for allowing us to provide support to our affected members and parents/guardians.
Please do not forget to contact our offices if you have changed your address or contact details. It is
vitally important for you to update your information, which allows us to contact you to check on your
needs.
Lastly, we take this opportunity of wishing you and your families season’s greetings and a happy festive
time.
Office tel.: 031 332 0211
Physical address: Offices 7–24, Somtseu Road, Durban
Email: treasurerkzn@mdsa.org.za
Emergency no.: 082 455 6399
14

MDFSA NEWS
KZN BRANCH
CELEBRATES
MUSCULAR
DYSTROPHY
AWARENESS
MONTH 2022
As you all know, September is Muscular Dystrophy Awareness
Month. This year the KZN Branch took a decision to combine the annual
Awareness Day with the AGM in order to make the event more
special for our affected members and attendees. The occasion took
place on 17 September 2022 and the Awareness Day theme once
again this year was “Get into the Green Scene”.
After the AGM and lunch served to guests, everyone was escorted to
the “Green Scene” area by our designated MC, Anusha Chetty from
SA Home Loans, who welcomed the guests and went through the
events for the afternoon. The KZN Branch manager and EXCO members were on hand to start the afternoon’s
proceedings by handing out wheelchairs and equipment, goodie bags and warm winter blankets to affected members
present.
Photo-booth fun photographs were taken of all guests, in their party accessories,
which was an attraction for all present, who excitedly formed
queues to be next in line to take their selfies.
Green, red and black helium-filled balloons were handed out to each
guest. After a few jokes, quotes of famous people by Anusha Chetty,
and a silent prayer request, guests were given the countdown to release
the balloons in memory of all our affected members and loved ones who
had passed on during or before the 2021–2022 financial year. Everyone
was excited to see the balloons flying up in the wind and disappearing
into the air.
Guests were invited back into the marquee for more snacks and refreshments
and to have a meet-and-greet chat and an exchange of contact
numbers and email address before they departed. It was good to see
how affected members chatted with each other, discussing their respective
conditions. Most importantly, it was exciting to see the smiles on the
faces of all who attended the event.
The KZN Branch wishes to place on record
Emergency no.: 082 455 6399
15

MDF KZN
PARTNERS
WITH DAFTA
DURBAN SOUTH
FOR 2022
WOMEN’S DAY
CELEBRATIONS
The Muscular Dystrophy Foundation of South Africa
KZN Branch is indeed grateful to be partnering with
other organisations, and we take this opportunity today
to place on record our sincere appreciation to DAFTA
Durban South Region for allowing us the opportunity to
partner with them to celebrate Women’s Day with our
team of volunteers, affected members and parents.
The Women’s Day celebration has allowed us the opportunity
to create more awareness of this dreadful
life-threatening condition. We are appealing to anyone
in the audience who has or knows of anyone affected
with Duchenne muscular dystrophy, Becker muscular
dystrophy, limb-girdle muscular dystrophy, facioscapulohumeral
muscular dystrophy, congenital muscular
dystrophy, Charcot-Marie-Tooth disease, myasthenia
gravis, and spinal muscular atrophy to meet with our
team at our awareness stand to discuss the different
conditions and to feel free to take home the pamphlets
available so that you can pass them on to the many
affected members and parents out in your community
who are unaware of muscular dystrophy.
The Muscular Dystrophy Foundation of SA KwaZulu-Natal
Branch is based at the office complex of the Durban
Hindu Temple in Somtseu Road, Durban. The branch,
together with the National Office in Johannesburg and
the branch in Cape Town, aims to do the following: enable
people to identify muscular dystrophy needs and
to respond appropriately; develop equal caring and
coping services for people affected with muscular dystrophy;
support affected people with specialised equipment;
create public awareness of muscular dystrophy
issues; strive for the recognition and protection of the
rights of people affected with muscular dystrophy; support
and promote research into the causes and treatment
of muscular dystrophy; generate funds to support
and sustain our work; collaborate and communicate on
a national, provincial, international, governmental and
non-governmental basis on policy matters relating to all
aspects of muscular dystrophy; and assist parents and
affected members to form self-help and
support groups.
Our role is to support people affected with muscular
dystrophy and their families by: offering comprehensive
medical information and regular news updates; providing
referrals to neurologists and professional counsellors;
putting them in contact with specialised health services;
assisting with specialised disability equipment;
facilitating emotional support and contact with support
groups; and facilitating integration into mainstream society.
Most importantly, our role is to raise awareness
of the services rendered by the Muscular Dystrophy
Foundation of South Africa and awareness of muscular
dystrophy as a whole to dispel the lack of knowledge,
mythologies and stigma. Awareness promotion is an important
aspect of the Foundation’s purpose, and September
is the Muscular Dystrophy Awareness Month.
Awareness is extremely important for us in KZN and in
the country as many parents do not act quickly enough
to find out why a child is not reaching normal developmental
milestones. As a result of delays, some elements
of the condition that could be prevented if timely action
were taken are not duly addressed, and this worsens
disability for the affected child. In some extreme cases,
children are kept at home and not taken to school, missing
out on great opportunities for learning, growth and
development. The KZN Branch requires more counsel-
16

lors and volunteers in the community to assist in awareness
drives to spread the much- needed information
and identify more people and families living with this
condition.
Many of our affected members attend boarding schools
so that their parents can go to work during the week
and try to make a living for their families. Even so, these
families still struggle because the fees at these schools
are higher, taking into account the caregivers who
need to be at hand all the time assisting with bathing,
dressing, feeding and toileting. With some members,
the condition affects their ability to learn, and so they
need specially trained teachers who can give them individual
attention and have the patience to help them
learn and develop whatever skills they can. As these
services are expensive, many affected members drop
out of schools, resulting in them not reaching their full
potential.
Many of our affected members struggle with mobility
even in their own homes, because their homes are not
suitable for wheelchairs, other equipment and devices
that could assist them. It takes a lot of money to renovate
a house and make it disability friendly, and many
of our parents and guardians cannot afford this. There
are extreme cases where our affected members live
in informal settlements, which poses even more challenges
for getting around.
Some types of muscular dystrophies progress quickly
and may affect organs like the heart, which results in
the affected members requiring specialised medical
care. Some affected members have to undergo spine
surgery to straighten their spines to prevent other organs
from being affected by the curving spinal cord;
this could be life-saving surgery. Some of our affected
members have dropped out of school because it gets
too cold for them in the winter season, and this affects
their health. Such affected members could be helped
by providing warm clothes and helping schools keep
their classrooms warm in winter.
Should you or any parent that you know who has a child
diagnosed with the conditions mentioned, please contact
our offices urgently on 031 332 0211 or email projectskzn@mdsa.org.za.
Our branch emergency number
is 082 455 6399. Our dedicated staff and volunteers are
here today to provide you with all the information that
you would require.
17

Wheels of fire
Autobiography by Ari Seirlis
Ari Seirlis, former CEO of the QuadPara Association
of South Africa (QASA), recently published his
autobiography, Wheels of fire, using the services of
Reach Publishers (2022). The following information
about the book appears on its back cover.
Now 60 years old, Ari Seirlis has spent close to twothirds
of his life in a wheelchair as a quadriplegic.
In his compelling autobiography Wheels of Fire, he
records his life journey, starting with his upbringing,
schooling university [sic], fighting in the Angolan war
and early years as an energetic young man.
Ari’s life changed in a second when he broke his
neck after diving down a waterslide for a film shoot
in Durban, South Africa. During his long periods of
clinical rehabilitation, he reveals how – during this
darkest time of his life – he came to terms with the
lifelong inevitability of using a wheelchair.
A key turning point in Ari’s life was when he
embraced the Disability Rights Movement, both
locally and internationally. This included assuming
18
executive leadership of the QuadPara Association of
South Africa (QASA) and growing that organisation
exponentially to stellar status among local and
even global non-government organisations (NGOs).
Wheels of Fire describes Ari’s outstanding successes
in creating innovative and sustainable funding
opportunities for NGOs.
Ari has achieved great heights in his life, albeit
different from the ones he had imagined as a
student. Nevertheless, his journey has seen him
engage with Christopher Reeve aka Superman on
various subjects in his New York home ; assist South
Africa’s first democratic president Nelson Mandela
with his birthday celebrations; advise presidents and
travel globally to ensure the necessary changes.
With honesty, humour and self-reflection, he takes
readers through the wonderful highs and desperate
lows of his life in this moving and inspiring story.
The above paragraphs reflect the text on the book’s
back cover shown photographically at:

Book Order Form
Date:
Name:
Delivery Address:
Email:
Mobile:
Number of books @R250 each: #
R
Delivery @R50 each # R
Total
R
Special delivery instructions?
Personal message written in the book from Ari?
Payment Details:
AMASHOVA PROJECTS
STANDARD BANK CURRENT ACC 250796627 HILLCREST BRANCH
Use your surname as a reference
Email POP to aris@iafrica.com or SMS/ WhatsApp to 0829014150
Receipt required: Y N
Email completed form to aris@iafrica.com
Wheels of Fire:- 1 st Published 2022
Ari Seirlis
PO Box 420 Sedgefield 6573. aris@iafrica.com 0829014150
19

MD INFORMATION
Call for SA to improve spinal
muscular atrophy awareness
By Andrew Miller
without treatment their life expectancy can be very
short. Conversely, type 4 SMA patients often start to
experience symptoms only in their teenage or adult
years, and
most still have a good chance at a “normal” life
expectancy. But there are no hard rules as to how each
SMA case evolves, and many people across the world
live full and active lives with SMA, even in the face of
difficult physical circumstances.
Spinal muscular atrophy is a genetically inherited
muscle wasting condition that often goes undiagnosed
in South Africa. Experts are calling for that to change...
A child diagnosed with a severe, genetic muscle-wasting
condition is a nightmare scenario for any parent. But
while such diseases are extremely difficult to deal with,
there is still a lot to be gained from accurate testing and
diagnosis. This is especially true with spinal muscular
atrophy (SMA), a little known neuromuscular disorder
(NMD) that is actually the most common genetic cause
of infant death in the world.
Different NMDs are often grouped under the broad
classification of muscular dystrophy, because their
symptoms tend to result in poor and/or degenerating
muscle function. Severe NMDs see patients using
motorised wheelchairs for mobility and struggling with
many of the basic physical parts of life that the rest of the
world takes for granted, such as swallowing, coughing,
sitting, standing and walking. Some NMDs are mild
and progress slowly, allowing for a conventional life
expectancy, while others are more severe and result
in functional disability, including the loss of the ability
to walk. Life expectancy may depend on the degree
of muscle weakness and any respiratory or cardiac
complications.
SMA is one such condition. It is a genetically inherited
disease that causes damage to the anterior horn
cell in the spinal cord, resulting in muscle atrophy,
the medical term for “getting smaller”. Type 1 SMA
patients are generally diagnosed when infants, and
“August is SMA Awareness Month, and we’re taking
as many steps as we can to make sure South African
parents, families and educators are aware of how to
spot the warning signs,” says Gerda Brown, General
Manager of the Muscular Dystrophy Foundation of
South Africa (MDFSA).
While SMA, like most NMDs, has historically been
untreatable, in recent years innovative new medicines
have started to emerge that address some aspects
of the underlying genetic malfunction ‒ which means
proper diagnosis and genetic testing have become ever
more important for patients.
“The South African medical system doesn’t have
very good diagnostic capability when it comes to rare
diseases like SMA”, explains Brown. “As a result, a
lot of cases go undiagnosed. But the current scenario
can be significantly improved if parents, educators and
medical professionals know what to look out for.”
SMA warning signs in infants and young children
include:
• floppy or weak arms and legs;
• movement problems – such as difficulty sitting up,
crawling or walking;
• twitching or shaking muscles (tremors);
• bone and joint problems – such as an unusually
curved spine (scoliosis);
• swallowing problems; and
• breathing difficulties.
Genetic treatments for SMA are only just becoming
available globally. Some of them rank among the most
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expensive medicines in the world, and there has been
a lot of controversy about the prices being asked by
pharmaceutical companies and the ability of developing
economies to pay fees that sometimes reach into
millions of dollars. But the good news for local SMA
families is that the pharmaceutical company Roche is
currently in the process of registering its SMA treatment
Evrysdi as a medicine in South Africa.
“It has been difficult for South African SMA families
over the last few years, especially because there
has been so little information about when treatments
might become available locally”, says Brown. “But the
frustration doesn’t make SMA testing and diagnosis
pointless. Quite the opposite, in fact. Genetic testing
matters in terms of accessing future treatments, and
also when it comes to how families approach getting
the right doctor and managing important day-to-day
challenges like exercise and physiotherapy.”
Brown also highlights the importance of an accurate
diagnosis in dealing with medical aid claims.
Because SMA is a relatively rare genetic condition,
interactions with medical aids can be complex, as not
all organisations are as up to date about the details
of the disorder as they could be. An accurate genetic
test therefore puts patients and caregivers in the right
position to manage the impact of the condition in the
here and now and to access future treatments as they
become available.
“Our message is simple”, Brown concludes. “Parents,
families and caregivers should watch out for SMA
warning signs, and if they see any in a child, they should
contact a medical professional immediately. Facing the
challenges with knowledge is empowering, and a lot
can be achieved!”
SMA tips for South African parents:
1. Make sure you are familiar with the SMA warning
signs.
2. If you think a child under your care may be
affected, visit your GP immediately – they should
be able to refer you to a specialist neurologist who
understands the condition and how to test for it.
3. Not all GPs are familiar with SMA, so it is a good
idea to take the list of the warning signs with you.
4. The MDFSA web site (www.mdsa.org.za) offers
a good overview of the condition for anyone who
needs more information or to access relevant
medical services and resources.
From all of us at Muscular
Dystrophy Foundation
Wishing you a wonderful festive
season, and may the New Year
bring you joy, peace and happiness.
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Physiotherapy
By Muscular Dystrophy News
and strong as possible. They can also teach stretching
and muscle exercises that can be done at home, as
well as make recommendations for physical education
and accommodations at school.
Every child will have unique needs and may be affected
differently by the disease. Physical therapist [sic]
work with children, their parents, and their care team
to develop a treatment plan customized to the child’s
needs.
If orthotic devices such as braces are required, the
physical therapist will work with the care team to find
the right type of brace and ensure the child maintains
as much mobility as possible for as long as possible.
Muscular dystrophy refers to a group of disorders
that cause progressive muscle weakness and loss
of muscle control. There are many types of muscular
dystrophy, with distinct treatments and needs.
But for all dystrophy types, physiotherapy is one
approach that may help to slow disease progression,
maintain quality of life, and reduce pain.
What is physiotherapy?
Physiotherapy, or physical therapy, is a treatment
approach that aims to help patients maintainmobility
and reduce pain through massage, exercise, education,
and advice.
Patients should begin working with a physiotherapist as
soon as possible after being diagnosed with muscular
dystrophy.
How can physiotherapy help patients?
Physical therapists help children with muscular
dystrophy manage complications, such as muscle
weakness and contraction caused by disease
progression.
Physical therapists identify areas of muscle weakness,
and work with the child to keep their muscles as flexible
Some patients may have trouble with daily tasks, like
eating, due to muscle weakness or difficulties with
swallowing. Physical therapy can identify exercises that
help to strengthen throat, jaw and tongue muscles to
address these problems.
Depending on the type of muscular dystrophy, physical
therapists can help slow the loss of range of motion,
muscle strength, daily function, and gait and posture.
Physiotherapy may also help reduce the pain patients
may be experiencing as a result of muscle weakness
or cramping.
Physiotherapy in clinical trials
A survey of physiotherapy clinical trials was published
in the journal PLOS One. The study examined the
records of muscular dystrophy clinical trials going back
to 1978. Almost all trials showed some improvement in
patient outcomes as a result of physiotherapy.
However, because of small sizes of trial groups and
their diverse populations, the survey failed to show
any significant improvement in patient outcomes as
a result of physiotherapy. Its authors recommended
that a large, multi-center clinical trial be carried out
to establish guidelines for physiotherapy in muscular
dystrophy.
Article available at: https://musculardystrophynews.
com/physiotherapy/
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Occupational therapy
By Muscular Dystrophy News
Muscular dystrophy is the name given to a group of
genetically inherited diseases all characterized by
progressive weakness and degeneration of muscles of
the limbs (legs and hands), face, neck, shoulders, hips,
heart, and diaphragm.
The age of onset of the disease can vary from childhood
to adult [sic]. As the disease progresses, the weakened
muscles make it difficult for patients to carry out
everyday activities at home, school, or the workplace.
Therefore, in addition to symptomatic treatments,
occupational therapy can help train patients to carry out
everyday tasks more efficiently.
The role of the occupational therapist
An occupational therapist evaluates and suggests ways
the patient can maintain better health and function as
independently as possible by using self-care as well
as work- and play-related activities. The occupational
therapist can also train the patient in using any devices
and mobility aids that might be required.
How the occupational therapist can help
An occupational therapist can help patients in various
ways. They can:
• collaborate with the healthcare team to implement
programs specific to the patient’s disabilities;
• suggest activities that can strengthen the weakened
muscles to maintain independence;
• recommend modifications for easy and safe access
at home, school, or work, especially when using a
wheelchair or a walker;
• suggest ways that daily living activities such as
eating, dressing, bathing, showering,
• shopping, and doing household chores can be
performed by the patient on his or her own;
• recommend appropriate equipment for self-care
tasks, such as commode chairs, shower chairs,
beds, and mobile arm supports;
• Teach the use of arm slings or orthotic devices to
support weak muscles in the wrists, arms, ankles,
and shoulders to improve their function;
• work with educational institutions or workplaces to
identify ways the patient can carry on studying or
working as independently as possible with easy
and safe access;
• recommend communication aids and devices such
as computers to assist with school and work-related
activities as well as social networking;
• suggest the use of a corset or a body jacket to
provide better support and balance to the spine
in the case of scoliosis (abnormal curvature of the
spine);
• teach energy conservation techniques so that body
movements are more efficient, which can help with
fatigue;
• identify ways to promote creativity and social
activities that can boost the patient’s confidence.
Article available at: https://musculardystrophynews.
com/occupational-therapy/
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MD INFORMATION
Ventilation
By Muscular Dystrophy News
caused by obstructive sleep apnea. In DMD patients,
nocturnal nasal ventilation can be given using a
continuous airway pressure (CPAP) or a bilevel airway
pressure (BiPAP) generator.
Hypoventilation is a common problem due to weakened
respiratory muscles in patients with some types of
muscular dystrophies such as Duchenne muscular
dystrophy (DMD). Theseb patients require long-term
ventilation support either at night or whenever their lung
function, measured by forced vital capacity (FVC), is
below acceptable levels.
Respiratory failure impacts the survival rate of muscular
dystrophy patients but long-term ventilation has been
shown to improve survival significantly. For example, a
study that evaluated the efficacy of long-term ventilation
over 25 years showed that the five-year survival rate is
70%–75% and the 10-year survival rate is 40% in DMD
patients, which were significantly
higher compared to patients who did not receive
ventilation support.
How ventilation works
A ventilator is a device that blows fresh air at high
pressure into the airways and then removes it from the
lungs. It supplements reduced lung function so that the
patient receives adequate oxygen, and excess carbon
dioxide is removed from the body. The air pumped
by the ventilator is carried into and out of the lungs
through a tracheal tube that is attached at one end to
the ventilator and the other end to the lungs through a
mouthpiece or a hole created by tracheostomy.
Types of ventilation
Ventilation support can be non-invasive or invasive,
with three types available for muscular dystrophy
patients with respiratory failure.
Nocturnal non-invasive ventilation
Nocturnal non-invasive ventilation is used when FVC
is below 30%, and patients encountersleep problems
A CPAP machine delivers a constant inhalation and
exhalation pressure. A BiPAP device provides higher
pressure during inhalation to help push the air in, and
a lower pressure during exhalation to help patients
breathe air out. Their use improves sleep quality,
decreases daytime sleepiness, improves daytime gas
exchange (carbon dioxide and oxygen), and leads to
a slower rate of decline in lung function, all of which
improve quality of life and survival.
Daytime non-invasive ventilation
MD patients require 24-hour ventilation support when
their respiratory function deteriorates and
their FVC is reduced to 15%–20%, and carbon dioxide
levels in their blood exceed 45 mmHg.
Several daytime non-invasive devices and techniques
are available.
• Mouthpiece ventilation is the most commonly used
daytime non-invasive technique. It is well-tolerated
and does not interfere with eating or speaking.
• Glossopharyngeal or frog breathing involves
incremental inflation of the lungs by gulping air into
the oropharynx and forcing the air from the pharynx
into the trachea. This technique is used to allow
for short periods of mechanical ventilation and is
useful in the event of ventilatory failure.
• An abdominal pressure ventilator uses an inflatable
bladder placed over the abdomen, which is
connected to a conventional portable ventilator.
This method generally does not work in obese
patients or those with scoliosis.
• Negative-pressure ventilation uses a tank, jacket, or
chest cuirass ventilator. It works on the principle of
enclosing the chest and abdomen in an airtight rigid
chamber from which air is intermittently evacuated.
This creates a sub-atmospheric pressure around
the lower thorax and abdomen that causes air to
be drawn into the lungs. These machines are large,
cumbersome, and not portable.
•
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Continuous invasive ventilation
When patients cannot use the non-invasive devices
or lack sufficient mouth and/or neck control to use a
mouthpiece during the day, a tracheostomy is performed
to provide continuous ventilation. Tracheostomy is a
surgical procedure in which a hole is created in the front
of the neck and a breathing tube (tracheostomy tube)
is inserted into the windpipe that directly carries air into
the lungs.
The tracheostomy tubes are safer and more
comfortable than breathing tubes through the mouth.
They also bypass any blockages in the windpipes. Air
can be blown through the tracheostomy tubes at higher
pressures in patients with lung disease or scoliosis.
Moreover, mucus and secretions from the lower airways
and trachea that cannot be cleared by coughing can
be removed by direct airway tracheostomy suctioning.
Otherwise, the accumulation of these secretions can
result in respiratory infections.
The disadvantages of tracheostomy include impaired
swallowing, difficulties in speaking, increased risk
of aspiration, airway occlusion by a mucus plug, and
infections. Therefore, it is preferred only when the noninvasive
ventilation methods do not work.
Article available at: https://musculardystrophynews.
com/ventilation/
Making a Difference
Muscular
F o
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Dystrophy
n d a
t
i
o
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o
by supporting people with
muscular dystrophy
Muscular
Dystrophy
F o
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n d a
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Awareness Month September
25

The Alienation Gene
Science fiction novel by Marinus Mans
In November last year we published an article about Marinus Mans
who lives with Limb-Girdle Muscular Dystrophy Type 2B and who
intended to self-publish a science fiction novel called The Alienation
Gene. He published the novel in August of this year and as he promised
he donated the first three months of proceeds to the MDFSA.
The e-book can be found on www.amazon.com
Marinus has sold 18 of the e-book copies and the price on Amazon is
$6.89. For overseas readers there is also an option to order a printon-demand
paperback copy on Amazon which costs $15.50 (plus
delivery fees). Because the paperback books will cost too much in
Rands in South Africa he also printed 50 copies, with his own money,
locally. He has sold about 35 of those and another 9 has been reserved,
but not yet paid for. So, there’s only about 6 paperback copies
left to buy locally. If you hurry, you might still be able to order a
paperback copy from him at mjmkeeprolling@gmail.com. The local
paperback price costs R200. The local delivery fee in Gauteng is an
added R75 (total price of R275) and outside of Gauteng the delivery
fee is an extra R100 (R300 in total).
So far Marinus raised the amount of R3271 and he has decided to
extend the period in which he will donate to the MDFSA in order to
hopefully reach an amount equal to at least one free genetic test for persons living with LGMD who can’t afford it.
That would cost somewhere in the order of R7000.
Last week he was also interviewed by an organisation called Celebrate Southern Africa, based in the UK, which is
managed by Dawn Denton living in Somerset. The interview is available on YouTube. She was so inspired by him
and the challenges the MDFSA faces that she decided to run a competition for writers to submit pieces of creative
and non-fiction writing to publish in a Kindle e-book and the profits will also go to the MDFSA. The competition
closes on 31st December 2022 and the winners will be announced in January 2023. They hope to publish soon
afterwards.
If you or anyone you know would like to participate in this competition, please submit your entry by completing
the online form on the “Celebrate Southern Africa” website or contact Gerda Brown at gmnational.co.za for further
details.
The Muscular Dystrophy Foundation of SA would like to
thank Sarepta Therapeutics for the grant towards awareness
and genetic testing for people diagnosed with LGMD.
26

Hello darkness, my old friend
I read somewhere recently that a survival starter kit for the
New South Africa begins with a diesel generator, a JoJo
water tank, and a can of pepper spray. Intended as a joke, it
is probably closer to the truth than many of us would like to
admit.
Having said that, one of the real challenges I face these days is
finding a sufficiently large window of opportunity to charge
my motorised wheelchair. My powerchair requires at least
eight hours of uninterrupted electrical supply in order to
secure a complete charging cycle.
Anything less and the batteries will noticeably deteriorate.
With three bouts of loadshedding each day, finding an eighthour
window is quite a challenge, certainly one I never
thought I would ever have to overcome. I now find myself
poring over EskomSePush's schedule in order to find
a suitable time slot in which to plug my wheelchair into the
supply, with the hope that we don't lapse into stage 4 or 5!
Not being much of a doomsday prepper my personal starter
kit has become a small Mecer inverter, an internet router
and a rechargeable Magneto LED lamp. Last year we got
tired of living like mushrooms in the gloom and purchased
an inverter which allows us theoretically to bottle; a small
amount of power for the loadshedding periods in order to
keep the computer and mobile phone connected to the
internet and avoid falling over ourselves in the darkness!
Trying to navigate your way from the living room to the
bedroom in pitch blackness with a motorised wheelchair
makes for an exciting exercise and an achievement that one
doesn't necessarily want to become good at! I have
developed newfound appreciation for those who have to live
with visual disabilities.
This starter-kit setup keeps us in touch with the world and
perhaps more importantly in reach of those whom we care
about. Rightly or wrongly, communication has become the
cornerstone of our modern existence, regardless of where in
the world people live. This is communication not only as the
exchange of personal pleasantries but also as the ability to
continue education, employment and business, the provision
of news and information, and even the purchase and delivery
of good game-essential items via online shopping. We expect
these resources to be available in text, voice, and both still and
moving visual form, and of course to be instantly accessible.
Certainly in the turbulence of the last two-and-a-half years,
they have been a lifesaver for many, most especially for those
of us in the disabled community.
With this in mind, I struggle with modern mobile phones since
my fingers do not cope with the demands of touchscreens.
I can, however, still control a mouse, which means that the
desktop computer is my communication hub and link to
the world. The other day I encountered an interesting piece
of software called SCRCPY, which allows users to cast their
mobile phone onto the computer screen and use a mouse
to operate it as if it were the user’s finger. This pretty much
allows me to control all of my computer communication
software such as email, VOIP (MicroSIP), Skype, WhatsApp
Web and Zoom and also my entire mobile phone and its
unique applications, as if I were holding it in my hand ‒ all
with a click of my mouse!
SCRCPY is an amazing piece of minimalist software, relatively
easy to set up and operate, and it does not require any sort of
supercomputer. More information is available online via
Downloadsource.net (at https://www.youtube.com/c/
Downloadsourcenet).
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DG-5506 shows promise at reducing Becker MD
muscle damage
6-month interim data results also show improved physical
function in patientsReviewed by Emily Henderson B.Sc.
September 26, 2022
By Patricia Inácio, PhD
October 20, 2022 in Muscular Dystrophy News
EDG-5506, Edgewise Therapeutics’ experimental oral
therapy, continues to safely reduce muscle damage
and improve physical function in adults with Becker
muscular dystrophy (BMD), according to six-month
interim data from the Phase 1 ARCH trial.
Treatment led to a marked reduction in the average
levels of key markers of muscle damage relative to
the trial’s start and motor function continues to tend
to improve compared to the typical decline seen in
untreated patients.
“BMD is a serious neuromuscular disorder and
individuals living with this disease have no approved
treatment options,” Kevin Koch, PhD, Edgewise’s
president and CEO, said in a company press release.
“These early data are very encouraging and highlight
EDG-5506’s potential to alter the course of the disease.”
The Phase 1 findings were presented by Joanne
Donovan, MD, PhD, Edgewise’s chief medical
officer, in a session called “Targeting Fast Muscle
Myosin: a Novel Approach to Protecting Muscle for
the Dystrophinopathies,” Oct. 14, as part of the 2022
Annual Congress of the World Muscle Society. The
presentation was titled “Clinical Development of EDG-
5506 in Duchenne and Becker Muscular Dystrophy.”
A placebo-controlled Phase 2 trial called CANYON
(NCT05291091) is testing EDG-5506 in up to 66 boys
and men with BMD and the study is enrolling male
patients, ages 12–50, at six sites in the U.S.
EDG-5506 is being developed as a potential
disease-modifying therapy for dystrophinopathies,
neuromuscular conditions caused by mutations in the
DMD gene that include BMD and the more severe
Duchenne muscular dystrophy (DMD).
The DMD gene contains the information to produce
dystrophin, a protein that helps protect muscle cells
from being damaged during movement. In BMD and
DMD, muscle cells become more susceptible to wear
and tear from contractions.
EDG-5506 is a small orally available molecule designed
to protect muscle fibers from the use-driven damage
and scar tissue buildup that lead to muscle weakness
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and wasting. It works by suppressing myosin, a protein
involved in muscle contraction.
The ongoing, open-label Phase 1 ARCH clinical trial
(NCT05160415) was designed to assess EDG-5506’s
one-year safety and pharmacokinetics, or its movement
into, through, and out of the body. Changes in muscle
damage biomarker levels, physical function measures,
timed tests, and patient-reported outcomes are also
being evaluated.
A total of 12 men with BMD (mean age, 32.8) who
were able to walk independently were enrolled. Seven
had previously participated in a brief Phase 1 trial
(NCT04585464), which indicated EDG-5506 at a daily
dose of 20 mg rapidly reduced markers of muscle
damage.
Interim trial data promising for EDG-5506
In the ARCH study, participants started at a daily dose
of 10 mg at night for the first two months, which was
followed by a 15 mg daily dose for the next four months.
After completing six months of treatment, all have
started to receive 20 mg per night.
Consistent with the trial’s four-month data, the therapy
continues to be well tolerated after six months, with no
dose reductions or treatment discontinuations reported.
The most commonly reported side effects have been
dizziness, drowsiness, and headache.
Target circulating levels of EDG-5506 were reached
after the dose was increased to 15 mg.
At the most recent assessment, the average levels
of two muscle damage markers, fast skeletal muscle
troponin I and creatine kinase (CK), were significantly
reduced. Fast skeletal muscle troponin I levels were
reduced by 75% and average CK levels were reduced
by 39%.
Men with the highest values at the start of the study
showed the greatest reductions, supporting “protection
against activity-induced damage.”
Also, the molecular signature of BMD identified in these
patients is progressively being reverted with EDG-5506
treatment. The levels of these proteins, many involved
in inflammation, have shown a significant drop since
the start of the study.
Gains in motor function
Motor function also continued to show an improvement
trend, with eight patients improving or stabilizing
relative to the study’s start on the North Star Ambulatory
Assessment (NSAA), a measure of motor function with
muscular dystrophy.
Contrary to the 1.22-point annual decline in NSAA
scores reported for untreated BMD patients participating
in a natural history study, those treated with EDG-5506
for six months show a consistent, positive trend toward
increase, reflecting better function.
A similar positive trend was seen for the North Star
Assessment for Limb Girdle Type Muscular Dystrophies
(NSAD) scores, a scale developed for adult patients
that features tasks of increasing difficulty.
Six months of EDG-5506 treatment was also associated
with a reduction in patient-reported pain scores relative
to the study’s start, while “other patient-reported
outcomes, such as mental health, fatigue and sleep,
also trended better,” Donovan noted in the presentation.
These findings support EDG-5506’s effectiveness
in reducing contraction-induced damage and in
helping preserve and improve muscle function in
dystrophinopathies.
“As a company, we are dedicated to the muscular
dystrophy community and are thankful for the trial
participants as we are critically evaluating this important
data to help guide our clinical development plan in BMD
and DMD,” Donovan said in the release. “We continue
to be encouraged by EDG-5506’s safety profile and the
positive trends observed with these interim data.”
Edgewise plans to launch a Phase 2 trial, called
LYNX (NCT05540860), to evaluate the safety,
pharmacokinetics, and effects on muscle damage
biomarkers of EDG-5506 against a placebo in up to 27
boys with DMD. The study is expected to start this year
and contact information has been made available.
The company, along with the Virginia Commonwealth
University, initiated an international natural history
study (NCT05257473) to follow about 150 male BMD
patients, ages 8 and up, in the absence of treatment.
Contact and location information is also available for
that.
The goal of the study is to assess the natural course of
the disease, which may help evaluate the effectiveness
of therapies such as EDG-5506.
Article available at: https://musculardystrophynews.
com/news/edg-5506-treatment-shows- promisebecker-md-clinical-trial/
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The true cost of disability
This month is National Disability Rights Awareness
Month, which aims to help address the challenges facing
persons with disabilities by removing discriminatory
barriers. It is well known that persons with disabilities
are often disproportionately poor as a result of a
combination of barriers, from getting an education, to
finding decent work and participating in civic life.
However, having worked in this sector for four years, I
have been shocked at the much more subtle, and often
overlooked, cost of living barrier which can significantly
impact on their quality of life.
In order to live a normal and decent life, and have
access to opportunities, persons with disabilities
have to foot the bill for a number of additional costs
not incurred by their able- bodied counterparts. This
includes higher medical expenses, personal assistive
devices as well as modified transport or housing.
Therefore, although many people with disabilities may
appear to live above the poverty line, in reality they
don’t have enough money to meet their basic needs
and minimum standard of living.
To draw attention to this issue, in line with the ethos of
Disability Rights Awareness Month, the SAB Foundation
asked three previous recipients of our Social Innovation
and Disability Empowerment Awards, to explain the
cost of living barrier.
The cost of prosthetics
Michael Stevens is the Operations Manager at
Jumping Kids, a beneficiary of the SAB Foundation
Social Innovation Awards 2016, that seeks to provide
affordable prosthetic solutions to young South African
amputees.
By Bridgit Evans
SAB Foundation
November 5, 2018
“Considering that without the necessary equipment
most prosthetic or wheelchair users are unable to be
active, capable members of society, it doesn't make
sense that the cost barrier that allows for this is so big,”
Stevens explains.
Michael cites a few examples of these costs, including
that a top of the range prosthetic knee can cost between
R500 000 and R900 000 with cheaper, mechanical
options, that have been around for over 20 years,
retailing at over R65 000. The feet that he recommends
cost between R20 000 and R45 000 and the socket,
which he believes to be the most important component
because of its role in comfort, can cost as much as
R90 000. These are not once-off costs and, depending
on the warranty, items need to be replaced every two to
five years. Silicone liners, which are the barrier between
the amputated limb and the socket, need to be replaced
at least once a year at a cost of between R5 000 and
R12 000.
Even for well-off individuals, who have the help of
private medical aids, these costs are prohibitive, but for
the poor they are completely exclusionary. Instead, the
poor, who are reliant on public sector care, are given
‘old tech’ which equates to them experiencing a number
of disadvantages.
Socket manufacturing techniques, for example, are old
and time consuming, which means that people are often
given ill-fitting, prosthetics, which can cause significant
discomfort. The use of cheaper, heavy components
make walking hard and, instead of silicone liners,
people often use wool and fabric for cushioning. These
cause chafing and pick up dirt and germs which can
cause infection and lead to further amputations.
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“This type of solution doesn't allow individuals
to be active, which limits their work options and
opportunities,” says Stevens. “However, we have
shown that even challenging fitments like double above
knee amputations can be managed in a way that allows
the amputee to compete and thrive. This can be seen
definitively in the outcomes of Ntando Mahlangu who,
following a prosthetic fitment by Jumping Kids, went
from never walking to winning a Paralympic silver
medal in the 200m,” he concludes.
The cost of wheelchairs
Low income earners often rely on donated wheelchairs
to get around, which are generally provided on a onesize-fits-all
basis. As a result, the most commonly used
and prescribed wheelchair in South Africa is the basic
folding frame wheelchair – a low active wheelchair most
suited for an indoor environment.
“Ideally, wheelchairs should be custom built to fit the
user as well as being suitable for their circumstances,”
explains Schalk van der Merwe, the inventor of a Rural
Hand bike for wheelchair users in South Africa.
Low cost solutions often are not suited for people living
in rural areas who have to navigate long distances
over rough and uneven terrain. This compromises the
durability of the chair resulting in maintenance costs for
the user. Failure to meet these costs can have serious
health consequences and the long term effects of
incorrect seating can include contractures, scoliosis,
kyphosis and pressure sores.
Avoiding these health risks can come with a barrage
of additional ‘hidden’ costs. A wheelchair seat cushion,
for example, that minimises the risk of pressure sores
can cost as much as R7 000. Customised wheelchairs
can cost as much as R50 000 to R60 000 and need to
be replaced as often as every three years. Therefore,
securing a suitable wheelchair and keeping up with the
maintenance requirements can put significant financial
strain on wheelchair users, and seriously impact their
ability to compete.
To address this issue van der Merwe, a recipient of
the SAB Foundation Social Innovation and Disability
Empowerment Awards 2017, developed the Rural Hand
Bike. The basic design, made with easily maintainable
and robust parts, makes this product uniquely affordable
for individuals living with a disability.
The cost of accessible transport
In 2017, over 50 commuters with different types
of disabilities participated in Dimensional Access
Technique’s Disabled Commuters Survey. The findings
of this survey indicated that disabled travellers incurred
an average cost of around R70 during their daily
commutes. This equates to a yearly cost of R25 550,
significantly more than the average transport cost of
R3 957 that, according to the Stats SA Poverty Trends
report 2017, poor households cough up each year.
For the most part, accessible public transport is only
available in larger cities and links to transport services
are in wealthier areas close to job opportunities. Once
again, people living in rural or outlying areas are
often unable to access these services and alternative
solutions, that cater to their specific needs, can come
at a prohibitive cost.
“Accessible transport services provided by government,
private businesses and even disability organisations
are very limited and very costly for vast majority of
persons with disabilities,” explains Lubabalo Mbeki,
the founder of Dimensional Access Techniques, a
2016 SAB Foundation Social Innovation and Disability
Empowerment Award recipient.
To address these challenges, Access Techniques has
developed Khwela Mobility Unlimited, an affordable
transport solution that seeks to serve the mobility and
commuting needs of neglected communities.
Mbeki further explains that without the ability to afford
accessible transport millions of people with disabilities
are unable to leave their homes or go to welfare
services, children are unable to go to school, and adults
are unable to work.
In conclusion
These are just a few examples to highlight the cost
of living barrier, but the same can be said for most
disabilities including the hearing impaired and the blind.
Hearing aids are often very expensive and in order for
blind people to be able to connect to the internet and
engage in the modern world, they need to purchase a
braille computer which costs more than R70 000. The
high costs associated with disability exclude many
people from achieving the very minimum standard of
living required for them to compete with able bodied
individuals for work and success.
However, in South Africa we have a number of inspiring
social innovators who are striving to uplift these
vulnerable communities. As we commemorate National
Disability Rights Awareness
Month, it is essential that we take heed of this
debilitating issue and continue to strive for more
affordable solutions for people with disabilities. It will
need a conscious effort from all sectors, public, private
and civil society.
Article available at: https://sabfoundation.co.za/news-
1/2019/4/2/the-true-cost-of-disability
31

LIVING WELL WITH
A DISABILITY
BY MELINDA SMITH, M.A. IN HELPGUIDE
ADAPTING TO LIFE WITH A DISABILITY IS NEVER EASY, BUT
THERE ARE WAYS TO HELP YOURSELF COPE WITH LIMITATIONS,
OVERCOME CHALLENGES, AND BUILD A REWARDING LIFE.
Making the adjustment
Adjusting to life with a disability can be a difficult transition.
We all tend to take our health for granted—until it’s
gone. Then, it’s all too easy to obsess over what we’ve
lost. But while you can’t go back in time to a healthier
you or wish away your limitations, you can change the
way you think about and cope with your disability. You
are still in control of your life and there are many ways
to improve your independence, sense of empowerment,
and outlook. No matter your disability, it’s entirely possible
to overcome the challenges you face and enjoy a
full—and fulfilling—life.
Most of us expect to live long, healthy lives. So, when
youre hit by a disabling illness or injury, it can trigger a
range of unsettling emotions and fears. You may wonder
how you'll be able to work, find or keep a relationship,
or even be happy again. But while living with a disability
isn't easy, it doesn't have to be a tragedy. And you
are not alone. Millions of people have traveled this road
before you (the CDCestimates that 1 in 4 Americans lives
with a disability) and found ways to not just survive, but
thrive. You can, too.
Learn to accept your disability
It can be incredibly difficult to accept your disability.
Acceptance can feel like giving in—throwing in the towel
on life and your future. But refusing to accept the reality
of your limitations keeps you stuck. It prevents you from
moving forward, making the changes you need to make,
and finding new goals.
Give yourself time to mourn
Before you can accept your disability, you first need to
grieve. You've suffered a major loss. Not just the loss of
your healthy, unlimited body, but likely the loss of at least
some of your plans for the future.
Don't try to ignore or suppress your feelings. It's
only human to want to avoid pain, but just like you won't
get over an injury by ignoring it, you can't work through
grief without allowing yourself to feel it and actively deal
with it. Allow yourself to fully experience your feelings
without judgement.
You're likely to go through a roller coaster of emotions—from
anger and sadness to disbelief. This is perfectly
normal. And like a roller coaster, the experience is
unpredictable and full of ups and downs. Just trust that
with time, the lows will become less intense and you will
begin to find your new normal.
You don't have to put on a happy face. Learning to
live with a disability isn't easy. Having bad days doesn't
mean you're not brave or strong. And pretending you're
okay when you&'re not doesn't help anyone—least of all
your family and friends. Let the people you trust know
how you're really feeling. It will help both them and you.
Coming to terms with your new reality
It's healthy to grieve the life you've lost, but it's not healthy
to continue looking back and wishing for a return to your
pre-disability “normal.” As tough as it is, it's important to
let go of the past and accept where you are.
• You can be happy, even in a “broken” body. It
may not seem like it now, but the truth is that you
can build a happy, meaningful life for yourself, even
if you're never able to walk, hear, or see like you
used to. It may help to search out inspiring stories
of people with disabilities who are thriving and living
lives they love. You can learn from others who have
gone before you, and their successes can help you
stay motivated during tough times.
32

• Don't dwell on what you can no longer do.
Spending lots of time thinking about the things your
disability has taken from you is a surefire recipe for
depression. Mourn the losses, then move on. Focus
on what you can do and what you hope to do in the
future. This gives you something to look forward to.
• Learn as much as possible about your disability.
While obsessing over negative medical information is
counterproductive, it's important to understand what
you're facing. What's your diagnosis? What is
the typical progression or common complications?
Knowing what's going on with your body and what
to expect will help you prepare yourself and adjust
more quickly.
Find ways to minimize your disability's impact
on your life
It goes without saying that your disability has already
changed your life in big ways. It doesn't help to live in
denial about that. You've got limitations that make things
more difficult. But with commitment, creativity, and a
willingness to do things differently, you can reduce the
impact your disability has on your life.
Be your own advocate. You are your own best advocate
as you negotiate the challenges of life with a disability,
including at work and in the healthcare system.
Knowledge is power, so educate yourself about your
rights and the resources available to you. As you take
charge, you'll also start to feel less
helpless and more empowered.
Take advantage of the things you can do. While you
may not be able to change your disability, you can reduce
its impact on your daily life by seeking out and embracing
whatever adaptive technologies and tools are available.
If you need a device such as a prosthetic, a white
cane, or a wheelchair to make your life easier, then use
it. Try to let go of any embarrassment or fear of stigma.
You are not defined by the aids you use.
Set realistic goals—and be patient. A disability forces
you to learn new skills and strategies. You may also have
to relearn simple things you used to take for granted. It
can be a frustrating process, and it's only natural to want
to rush things and get back to functioning as quickly as
possible. But it's important to stay realistic. Setting overly
aggressive goals can actually lead to setbacks and discouragement.
Be patient with yourself. Every small step
forward counts. Eventually, you'll get there.
Ask for (and accept) help and support
When struggling with a disability, it's easy to feel completely
misunderstood and alone. You may be tempted
to withdraw from others and isolate yourself. But staying
connected to others will make a world of difference in
your mood and outlook.
Tips for finding (and accepting) help and
support
Nurture the important relationships in your life. Now,
more than ever, staying connected is important. Spending
time with family and friends will help you stay positive,
healthy, and hopeful. Sometimes, you may need a shoulder
to cry on or someone to vent to. But don't discount
the importance of setting aside your disability from time
to time and simply having fun.
Joining a disability support group. One of the best
ways to combat loneliness and isolation is to participate
in a support group for people dealing with similar
challenges. You';ll quickly realize you're not alone. Just
that realization goes a long way. You'll also benefit from
the collective wisdom of the group. Support groups
are a great place to share struggles, solutions, and
encouragement.
Accepting help doesn't make you weak. Refusing to
seek out needed assistance can delay your progress
or make you worse, either physically or emotionally. Let
go of the fear that asking for support will inspire pity. Allow
the people who care about you to pitch in. Not only will
you benefit, it will also make them feel better.
Consider talking to a mental health professional.
Having someone to talk to about what you're going
through can make a huge difference. While loved ones
can provide great support in this way, you may also want
to consider talking to a therapist. The right therapist can
help you process the changes you're facing, work through
your grief, and reframe your outlook in a more positive,
realistic way.
Find things to do that give you meaning and
purpose
A disability can take away many aspects of your identity,
leaving you questioning who you are, what your
value is, and where you fit in society. It's easy to start
feeling useless and empty, especially if you can't do the
same work or activities as you did before. That s why
it's important to find new things that make you feel good
about yourself—things that give you a renewed sense
of meaning and purpose.
Volunteer. Volunteering is a great way to feel more productive
and like you're making a difference. And
it';s something you can do even if you have limited mobility
or can't work. Pick a cause you're passionate about
and then figure out how you can get involved. There are
numerous opportunities out there—many of which can
even be done from home.
Develop new hobbies and activities that make you
happy. A disability can make the activities you used
to enjoy more difficult, or even impossible. But staying
engaged will make a big difference in your mental
33

MD INFORMATION
health. Look for creative ways to participate differently
in old favorites, or take this opportunity to develop new
interests.
Find ways to give back to those who help you. When
you’re disabled, you often must accept a lot of help from
friends and family. While this is not a bad thing, it can
still feel good when you find ways to reciprocate. For
example, maybe you're great with computers and can
help a tech-challenged family member. Or maybe you're
a good listener your friends know they can count on when
they need someone to talk to. Even things as small as a
thank-you card or a genuine compliment count.
Take care of an animal. Caring for a pet is a great way
to get outside of yourself and give you a sense of being
needed. And while animals are no substitution for human
connection, they can bring joy and companionship into
your life and help you feel less isolated. If you aren't able
to have a pet, there are other ways to find animal companionship,
including volunteering at your local animal
shelter or veterinarian's office.
Make your health a top priority
In order to feel your best, it's important to support and
strengthen your health with regular exercise, a healthy
diet, plenty of sleep, and effective stress management.
Exercise
It's important to get exercise in any way that you can.
Not only is it good for your body—it&'s essential for
mental health. Regular exercise helps reduce anxiety
and depression, relieve tension and stress, and improve
sleep. And as you get more physically fit, you'll also feel
more confident and strong.
Start small and build from there. Don't jump too quickly
into a strenuous routine. You're more likely to get injured
or discouraged and discontinue. Instead, find ways to
increase the amount of physical activity in your day in
small, incremental steps.
Find creative ways to exercise. Instead of dwelling on
the activities you can't do, focus on finding those that
are possible. Even if your mobility is limited, with a little
creativity, you can find ways to exercise in most cases.
Listen to your body. Exercise should never hurt or make
you feel lousy. Stop exercising immediately and call your
doctor if you feel dizzy, short of breath, develop chest
pain or pressure, break out in a cold sweat, or experience
pain.
Don't compare yourself to others (or to your past
self). Avoid the trap of comparing your exercise efforts
to those of others—even others with similar disabilities.
And don't discourage yourself by comparing where you
are today to where you were pre-disability.
Eat well to optimize energy and vitality
Nutritious eating is important for everyone—and even
more so when you're battling physical limitations or
health complications. Eating well will boost your energy
and promote vitality so you can partake in the activities
you want to and reach your goals. While eating healthy
isn't always easy when you're struggling with a disability,
even small changes can make a positive impact on
your health.
Focus on how you feel after eating. You'll start to notice
that when you eat healthy, balanced meals, you feel more
energetic and satisfied afterward. In contrast, when you
opt for junk food or unhealthy options, you don't feel as
good. This awareness will help foster healthy new habits
and tastes.
Get plenty of high-quality protein. Protein is essential
to healing and immune system functioning. Focus
on quality sources such as organic, grass-fed meat and
dairy, fish, beans, nuts and seeds, tofu, and soy
products.
Minimize sugar and refined carbs. You may crave
sugary snacks, baked goods, or comfort foods such as
pasta or French fries, but these “feel-good” foods quickly
lead to a crash in mood and energy. Aim to cut out as
much of these foods as possible.
Drink plenty of water. Your body performs best when
it's properly hydrated, yet many people dont get the fluids
they need. When you're dehydrated, you simply don't feel
as good. Water also helps flush our systems of waste
products and toxins.
Don't underestimate the power of sleep
Quality sleep is important for flushing out toxins and
protecting your brain. Most adults need 7 to 9 hours.
Establish a regular sleep schedule, create relaxing
bedtime rituals such as taking a bath or doing some
light stretches, and turn off all screens at least one hour
before sleep.
Make stress management a priority
Stress is hard on the body and can make many symptoms
worse, so it's important to find ways to manage your
stress, such as practicing relaxation techniques, carving
out a healthy work-life balance, and learning healthier
coping strategies.
Article available at: https://www.helpguide.org/articles/
healthy-living/living-well-with-a-disability.htm
34

MD INFORMATION
New discovery changes the
understanding of Duchenne
muscular dystrophy
By News Medical
Reviewed by Emily Henderson B.Sc.
September 26, 2022
Duchenne muscular dystrophy (DMD) is caused by
a genetic mutation and affects one in every 5,000
boys born. Because the affected gene is on the X
chromosome, girls are carriers of the mutant gene but
develop the disease only very rarely (one in about 50
million).
Children with the condition will need a wheelchair by
their teenage years, and most will die in or before they
reach their 30s.
Previously, it was widely believed DMD starts in
myofibres ‒ cells involved in contraction, which make
up the bulk of any muscle. As a result, the search for
a treatment had long been focused on these cells and
how to deliver therapeutics to them.
New research has revealed the disease begins much
earlier in cells destined to become muscle fibers, known
as myoblasts.
The study, published in eLife, is part of an ongoing
collaboration between scientists at the University of
Portsmouth, CNRS, I-STEM, AFM in France and Maj
Institute of Pharmacology of the Polish Academy of
Sciences
“The findings are significant because they change
the way we understand the disease. We discovered
the functions of myoblasts are severely affected
by the absence of dystrophin, and these cells are
critically important for normal muscle growth but also
regeneration.
Because these myogenic cells malfunction, damaged
muscle can't be repaired effectively. And any repaired
myofiber will eventually need to be replaced, which will
not happen without myogenic cells, so it becomes a
vicious circle."
Darek Gorecki, Senior Author, Professor, School of
Pharmacy and Biological Sciences, University of
Portsmouth
Last year, the team published results of modeling DMD
to look at its development, from its initial trigger and first
manifestation. They found evidence of abnormalities
even before birth in the embryo. Most boys with DMD
are diagnosed between two and five years old by which
time the damage to their bodies is already significant.
This delay in identifying the condition may be preventing
therapeutic interventions that could help slow, if not
stop, disease progression.
"At the moment we're targeting the late stage of
this disease by treating patients in their teen when
muscle degeneration has already taken its toll", added
Professor Gorecki.
"Instead, if we try to correct cells that are at the
beginning of the pathological process we might be able
to delay muscle degeneration and extend a patient's
lifespan. We can do this by identifying and treating
DMD newborns and targeting myogenic cells."
The paper says new technologies could be the key
to producing effective therapies for this devastating
disease.
Source: University of Portsmouth
Article available at: https://www.news-medical.
net/news/20220926/New-discovery-changes-theunderstanding-of-Duchenne-muscular-dystrophy.aspx
35

Sandra’s thoughts on…
The importance of being patient
By Sandra Bredell (MSW)
Patience can be described as “the ability to endure difficult
circumstances” (Wikipedia, 2022). It is also “a person’s
ability to wait something out or endure something tedious
without getting riled up” (Vocabulary.com, ©2022) ‒ that
is, without getting worked up or agitated. Being patient is
remaining calm, without getting irritated with something
or someone. It includes qualities such as perseverance,
acceptance and tolerance to a point where one can still
show respect. It is thus not just the ability to wait but
rather “the ability to keep a good attitude while waiting”
(Meyer, ©2022). This is especially important if one is
facing long-term challenges.
Schnitker (2012) distinguishes between three types of
patience: interpersonal patience, life hardships patience,
and daily hassles patience. Interpersonal patience
refers to conflict or unresolved issues between yourself
and family members or friends, whereas life hardships
patience points to a challenge that needs to be dealt with
over a long period of time, such as financial constraints or
poor health. The daily hassles patience applies to such
experiences as queuing at the bank or supermarket,
phoning customer services and getting transferred many
times or cut off, and, in South Africa, the load shedding.
According to Schnitker (2012), being patient relates to
an increased level of self-esteem, which leads to feeling
more in control and experiencing better life satisfaction.
All of these factors are positively connected to a person’s
well-being. It is also said that irritability can cause a
person to become lonely and show signs of poor health
and even symptoms of depression. In short, “when you’re
patient, you’re calmer” (DiGiulio, 2019). This enables you
to focus on your goals and what you want to achieve. Thus
36

the two cited authors suggest that you recognise what
sets off the irritability and how it makes you feel, think
and act. With this in mind you can be more aware of
the triggers and the situation and start to think and act
differently in those circumstances.
But how should you do this? In your how-to-be-patient
toolbox you need to have mindfulness (being aware of your
thoughts, feelings and actions), acceptance (accepting
the things you cannot change), ability to slow down your
pace (doing breathing exercises), enjoyment of the wait
(e.g. through listening to music or reading, to take your
mind off the wait and bein uncomfortable) and lastly
a willingness to practise these skills of patience until
you have mastered them. Even in the most challenging
situations it is best to appreciate the value of patience,
with the help of your toolbox.
Sources
DiGiulio, S. 2019. How to train yourself to be more patient.
NBC News, section “Better”.
Meyer, J. ©2022. Joyce Meyer quotes. Quotlr.com. https://
quotlr.com/author/joyce-meyer.
Schnitker, S.A. 2012. An examination of patience and
well-being. Journal of Positive Psychology,
7(4):263-280. http://dx.doi.org/10.1080/17439760.2012
.697185.
Smith, L. 2021. How to be more patient. WebMD.
https://www.nbcnews.com/better/lifestyle/how-trainyourself-be-more-patient-
ncna1022356.
https://www.webmd.com/balance/features/how-to-bemore-patient.
Vocabulary.com. ©2022. Patience. https://www.
vocabulary.com/dictionary/patience.
Wikipedia. 2022. Patience. https://en.wikipedia.org/wiki/
Patience.
37

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
Question: Is there any way that muscular dystrophy
can be prevented?
Muscular dystrophies are a large diverse group of inherited
conditions. They may be inherited in different ways. In some,
it is clear that the condition is present in the family, as there are
other affected family members. In others, an individual may be the
only one with the condition in the family. However, in both these
scenarios, there may be a risk that other family members could
be affected. Thus, once an affected individual is diagnosed in a
family – it is essential that the exact genetic condition is defined
and, ideally, the genetic fault identified. This allows for a family to
be given precise information as to who else is at risk and exactly
what the risks are.
Once an individual has a muscular dystrophy, progression can
sometimes be slowed by medical
interventions and, more recently, by gene based therapies.
Unfortunately, currently none of these is able to cure the disease or
prevent its progression entirely. Importantly, muscle development
or function is abnormal from the time of embryo development, and
thus post-natal interventions are unable to repair damage or poor
development which is established in utero.
In a family where a muscular dystrophy is identified, the disease
can be prevented in future pregnancies in a number of ways. A
family that wishes to explore these options needs to consult with
a geneticist to discuss the options and which options are most
suitable to their exact situation. They also need to make informed
choices as to which options are correct for them as a family.
• A couple may choose to avoid the biological risk by adopting
an unrelated child.
• A donor egg or sperm can be used to prevent the faulty gene
being transmitted.
An at-risk couple can also choose to test an at-risk conceptus. This
testing can only be performed if the exact disease-causing genetic
fault in the family has been identified prior to a pregnancy. Testing
to identify a disease causing fault is time-consuming and must be
performed prior to planning a pregnancy, so that a fault is identified
and testing in a pregnancy is efficient and streamlined, as there
are time constraints. Testing an at-risk conceptus can be done in
two ways.
1. Prenatal testing can be performed on an at-risk established
pregnancy. A sample can be
obtained from the fetus by either chorionic villus sampling (CVS)
at approximately 12-14 weeks) of pregnancy by amniocentesis
at 16 weeks. This material can be tested for the family specific
genetic fault and this information can be used to accurately
determine if the pregnancy is affected or not. If the fault is not
identified, a couple can be reassured of a healthy outcome. If
predicted to be affected, medical termination of pregnancy can
be offered.
2. Preimplantation genetic diagnosis can also be offered – here
a couple would need to go through in vitro fertilisation (IVF) using
their own sperm and eggs. Embryos are created in the laboratory
and then tested for the family–specific genetic fault. Once this is
done, healthy embryos can be implanted in the woman’s uterus
to achieve an unaffected pregnancy. Embryos with the genetic
condition are discarded and not implanted.
There have been many recent genetic advances and there is hope
for the future that new gene therapies may be able to cure some
genetic diseases, if affected embryos are detected early enough in
a pregnancy. Alteration of the fetal genetic material may become
possible. These options are, however, not yet available. There are
many technical and ethical challenges that remain before such
therapies become available to at-risk couples.
38

Random gravity
checks
Letter to your newly
diagnosed self
By Andrew Marshall
I love listening to podcasts about a wide variety of things,
because there is so much information about countless
different topics out there, and each podcaster has his or
her own unique spin on the particular topic. Of course,
a topic of great interest to me is disability and inclusion,
so I enjoy listening to how people who have similar
challenges to mine (sometimes way worse) and similar life
experiences overcome some of their personal obstacles.
One podcast I listen to is called “Two Disabled Dudes”,
presented by Kyle Bryant and Sean Baumstark, two guys
with Friedreich’s ataxia (FA), which is my type of muscular
dystrophy. They are really incredibly Cool Guys. Before
this disease started to affect them too much, they did a
fundraiser for the Friedreich’s Ataxia Research Alliance
(FARA) by riding their handcycles, in relay with a few
other guys, from the east coast of the US to the west
coast. A film documentary, “The Ataxian”, was made
about their journey. (A link to the film is provided at the
end of this article, along with a link to the podcast.) After
that massive adventure they started their podcast, while
doing numerous other things, like raising money for FARA
by means of other bike rides. They discuss lots of issues
regarding disability and how they have overcome some
of their challenges, but they also discuss normal dayto-day
stuff too. I can relate to what they say because
I don’t think about my disability 24/7; most of the time I
think about normal life, because inside this dodgy body,
inside my head, I’m just a normal dude.
One episode of the podcast was about a therapeutic
technique by which you write a letter to your younger
self. One of the Disabled Dudes had read an article
penned by an American woman with FA, Kendall Harvey,
entitled “A letter to my newly diagnosed self” (link also
provided below). I was really intrigued by this, because
I have found myself looking at pictures of myself when
I was younger (after being diagnosed) and saying: “This
isn’t a death sentence dude, you still have a lot of life
to live. It may be monumentally different from what you
had mapped out in your head but it’s still a life.” It’s as
though looking at those pictures was a simplified time
machine, enabling my older self to talk to my younger
self. Maybe the therapeutic exercise of writing a letter to
my younger self would give me a similar feeling.
I thought that this might be a cathartic exercise, because
I wrote and published my own memoir a few years ago,
and I found that vomiting my raw emotions and feelings
onto the pages and then wrestling with the words gave
me great introspective power. It’s hard to explain. I have
had the privilege of hearing the Two Disabled Dudes
and reading Kendall’s letters, and while I found a few
common threads, I also had a few unique ideas running
through my mind. So here is my letter ….
Howzit my sixteen-year-old china, I know the last four
or five years have been exceptionally challenging and
mentally stressful for you in not knowing why your
body is not the same as your peers. Your attempts at
sporting excellence suck, to put it mildly, and in the
last few years you and a few others (mostly Mom)
have noticed that you don’t walk in a straight line all
the time and your body movements are generally
not as fluid as before.
Actually, come to think about it a bit more, you’ve
always been a little different. You will have to work
out that there are other factors that have shaped your
life. Your old man was exceptionally skinny when he
was a child, so your skin-and-bone look is not all
FA’s fault. If you don’t watch yourself, you’ll pick up
some serious weight, and the more incapacitated
you become, the harder it will be to move around
independently, and, probably more importantly, harder
for your helpers to move you around later on in your
life. (This will blow the sixteen-year-old me away; I
thought I’d never fill out.)
You are pretty badly dyslexic, and when you were
growing up it just added to your complicated life
trajectory. Also, when you were really young, you
went to a professor who diagnosed your dyslexia
but also saw you had problems with fine motor
coordination and gave you extra homework, like
sticking little finicky bits of string and stuff onto paper
and walking on the beams in the park. You will never
know if this was all FA’s fault, but over your life you
have been able to see particularly your dyslexia as
a separate obstacle.
This is not a death sentence. It’s just a different
life… The doctors may have been vague about the
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timelines because FA is pretty rare and some of them
might have thought it was like motor neuron disease,
which has a much shorter life expectancy, but in a
few years’ time the internet is going to change the
way you comprehend this by allowing you to meet
thousands of other FA dudes on forums. You will
recognise that this disease manifests differently in all
of us and will find that we all have unique challenges
and circumstances. The majority of people live a long
life (well, longer than you think). Life won’t be easy at
all, and you will actually feel that you are drowning
at times. Just remember, you haven’t drowned yet.
Also, you are going to read a quote by Helen Keller, “I
cried because I had no shoes, until I saw a man who
had no feet”. Remember this when you feel there is
no hope. There’s always someone in a worse place.
There will be times in your life when all you want to
do is give up and just wait for the inevitable. You’ve
done pretty well so far, but when you get sucked into
a depression hole like this, it’s okay to sit in there
for a while and feel sorry for yourself, but don’t stay
there too long. The holes are filled with quicksand,
and getting out of them becomes harder the longer
you wallow. Antidepressants are not your enemy.
Sometimes you may find it difficult to ask for
assistance, but you will find that your friends are
incredible and they want to help, because often giving
is more pleasurable than receiving, so nurture the
relationship with your friends.
Things never work out exactly as planned. But they
do work out, sometimes not the way you would have
liked, but that’s life for you. You do the best with what
you have.
You will learn from your experiences that if you go
into a situation with positive energy, doors open that
you would never have expected. So go out there, grab
your opportunities with both hands and a positive
attitude, and live life to the fullest.
Grab life by the unmentionables, dude.
Your forty-one-year-old china, Ands.
I found this writing exercise an excellent opportunity
to work with my emotions and look at the past me,
and this has given me insight for making the future
me a little better.
Links referred to:
“Two Disabled Dudes” podcast:
“A letter to my newly diagnosed self” by Kendall
Harvey (in her column, My Darling Disability, 15 July
2021), under Friedreich’s Ataxia News:
https://podcasts.apple.com/za/podcast/two-disableddudes-living-with-
urgency/id1183613772?i=1000559269032
https://friedreichsataxianews.com/columns/letternewly-diagnosed-self/
“The Ataxian” film documentary:
https://youtu.be/Bi7rF37Gqic
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