MDF Magazine Issue 72 December 2023

Summer Issue 72
December 2023
MAGAZINE
September was MD Awareness Month

MAGAZINE
MDFSA Notice Board
MDFSA NEWS
MD INFORMATION
UC Davis Health to develop in-utero therapy for DMD
5 Things we’ve learned about finding a good college for a son with DMD
Researchers awarded grant to study potential therapeutic avenues for FSHD
Living with SMA
Corinne Grgas
REGULAR FEATURES
Travel
The view from down here
Sandra’s thoughts on nd-of-year fatigue
Doctor’s corner
Random gravity check
IN MEMORIAM
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 2024
Deadline: 1 February 2024
Publishing team:
Managing editor: Gerda Brown
Copy editor: Keith Richmond
Design and layout: Gerda Brown
Cover photo of Amalie & Simiethile at Kia &
Hyundai Market Day, Fourways
The Muscular Dystrophy Foundation of
South Africa
We are a non-profit organization that supports
people affected by muscular dystrophy and neuromuscular
disorders and that endeavours to
improve the quality of life of its members.

MDF support information
To learn more about the Muscular Dystrophy Foundation of South Africa, 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 10, 24 Somtseu Road, Durban, 4000
Banking details: Nedbank, current account no. 1069431362, branch code 198765

Celebration of MD Awareness
Month 2023 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 sixth
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 eye-catching 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, 37 corporates 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 2024!

Why bother getting a FREE
genetic test?
The Muscular Dystrophy Foundation of South Africa is offering all persons diagnosed with spinal muscular
atrophy (SMA), limb-girdle muscular dystrophy (LGMD) and facioscapulohumeral dystrophy (FSHD)
the opportunity to get a free genetic test that will confirm their muscular dystrophy (MD) diagnosis.
We know it’s never pleasant going through more medical stuff … but there are three great reasons why
you should seriously consider this offer.
1. Knowledge is power
The more we know about our conditions, the better equipped we are to manage them. Genetic testing is
detailed and accurate and clears up diagnosis confusion – including things you may not even know about.
2. Genetic tests are essential to access new genetic treatments
New genetic treatments are starting to emerge for different MDs. A genetic test is the starting point to accessing
new treatments. Nothing can happen without it. The sooner you get one done, the better placed
you will be to access treatments if and when they become available for your condition.
3. Getting tested helps our whole community
South Africa struggles a lot to diagnose people with MD correctly, and our lack of MD diagnostic data is
holding all of us back. The more detail we have about who has MD, the better positioned our country will
be to help people living with MD to access the treatments that are already being used in many other parts
of the world. Simply put, when you get your genetic test, you’re helping me. And when I get my test, I’m
helping you. The more tests we get done, the more power we have as a community.
Contact us!
Please discuss this offer seriously with your family and loved ones. If you would like to take advantage of
the free testing opportunity, contact Gerda Brown at 011 472-9703 or gmnational@mdsa.org.za.

To tattoo or not to tattoo
By Gerda Brown
Whenever I see someone’s tattoo, whether it is big or small and whether or not I know that person, I always wonder why they
got it. To put something on your body permanently, enduring quite a bit of pain and often paying a lot of money, takes a level of
passion and dedication that I find fascinating. I always want to ask: “What motivated you?” This time round it was I who got the
tattoo. Let me share what motivated me.
When I was 16 years old I was diagnosed with facioscapulohumeral muscular dystrophy (FSHD). Forward a couple (a very good
couple) of years … I met a young tattoo artist named Macalister Dalton and unexpectedly found that he has the same type of
muscular dystrophy as I do. Instantly I wanted a tattoo done by a fellow FSHD’er! After a few conversations the date was set for
8 September.
The design had to signify what brought us together, namely FSHD. I chose the orange ribbon for FSHD awareness combined
with the monarch butterfly. According to an article by Crystal (2023) on the A-Z Animals website, “Orange butterflies are often
associated with the sacral chakra, which represents creativity. The sight of an orange butterfly is often seen as a reminder to
embrace change. Their transformative journey from a crawling caterpillar to a graceful butterfly serves as a powerful metaphor
for personal growth.”
Macalister, thank you so very much. You are so talented! It was a pleasure for me to relax
and know that my skin was in the most capable of hands. The tattoo exceeded my expectations.
Reference
Crystal. 2023. Orange butterfly sightings: spiritual meaning and symbolism. Updated 30
June 2023. A-Z Animals. https://a-z-animals.com/blog/orange-butterfly-sightings-spiritualmeaning-and-symbolism/

Meet the Gauteng branch chairperson
By Rothea Louw
At the September 2023 AGM of the MDF Gauteng Branch, Mr Andrew Millar was elected as the new chairperson for our branch
for the 2023/2024 year. He is 49 years old and is the first chairperson of our branch who is affected by MD.
Andrew was diagnosed with SMA at a very young age. During his teenage years he was constantly falling, which led to broken
bones and injuries. He was 20 years old when he started to do research about SMA and only then understood his condition.
Andrew is a writer, ghostwriter and editorial consultant. The primary benefit of this occupation is that he can work from home.
He needs support with the execution of certain tasks but is functioning productively. He is married to Robyn, who is an artist.
The fact that all South Africans have a constitutional right to health care but that those with MD and NMDs are often ignored
entirely or left far behind motivates Andrew to be involved in activities for people with MD, including being spokesperson for
the MDF on access to new generation treatment. He is of the opinion that given the extreme struggles MD patients and families
experience, the lack of due support has to change.
Many people in the broader community close their eyes to the needs of others, but Andrew feels that support for the MDFSA
changes the lives of many. When someone gets involved, they should try not only to empower people to cope with their condition
but also to contribute positively to their communities.
With a philosophy like “attitude is everything”, Andrew’s positive spirit makes an impression on people wherever he goes. We
are fortunate to have him with us.
“So many of our dreams at first seem impossible, then they seem improbable, and
then, when we summon the will, they soon become inevitable.”
– Christopher Reeve

Pretoria School's memorable outing for Muscular
Dystrophy Awareness Month
In a heartwarming event on 19 September 2023, students
with muscular dystrophy from Pretoria School embarked
on a special outing at Denver Spur, Jacaranda
Centre. This unforgettable day was filled with laughter,
delicious meals and the joy of play as these young learners
enjoyed the experience. The gathering served a dual
purpose as it illuminated the importance of muscular
dystrophy awareness, with the representative colour
green taking the spotlight.
During the outing, one of our group members had the
opportunity to engage with the staff members of Spur,
shedding light on the challenges and realities of muscular
dystrophy. Capturing these memorable moments, we
snapped numerous photographs, with the staff joining in
by posing with the muscular dystrophy awareness frame.
By Mulanga Kharidzha
The day was a resounding success, overflowing with fun
and camaraderie, all thanks to the exceptional care and
hospitality extended by the Spur team. As an added surprise,
the students were gifted with party packs and
vouchers from Spur, as well as party packs from the Muscular
Dystrophy Foundation, making it a truly special occasion.
We'd like to extend our heartfelt gratitude to Ockie Kannenberg
and the entire Denver Spur team for graciously
hosting us, and to Pretoria School for their invaluable
partnership with the Department of Physiotherapy at the
University of Pretoria. The event was a testament to the
power of community, empathy and raising awareness,
reminding us that we are stronger when we stand together.

Celebrating World Duchenne
Awareness Day
World Duchenne Awareness Day takes place annually on 7 September.
This year the Muscular Dystrophy Foundation Cape Branch took a few
boys affected by Duchenne muscular dystrophy, who attend Astra
School, to Table Mountain. Red balloons are the symbol of World Duchenne
Awareness Day. We are grateful to Table Mountain National
Park for providing us with complimentary tickets for the day. The boys
had so much fun going up with the cable car and exploring the mountain.
Radio awareness interviews
On 12 September 2023, social worker Samantha Muller, Imran Small (client) and
Imran’s mother were interviewed by Muslima Ismail from Voice of the Cape
radio station. Imran is one of our Duchenne muscular dystrophy heroes.
Another radio interview took place with radio CCFM. Thank you Voice of the
Cape and CCMF for the opportunity to raise much needed awareness about
muscular dystrophy by means of radio.
MUSCULAR DYSTROPHY AWARENESS AT
TYGERHOF PRIMARY SCHOOL
Social worker Siphokazi Wonxi and social auxiliary worker Nomfundo Faku facilitated an awareness session at Tygerhof Primary
School. Thank you to the staff Tygerhof Primary School for the opportunity.

DUCHENNE MUSCULAR DYSTROPHY WORKSHOP
The staff of the Muscular Dystrophy Foundation Cape Branch and parents of affected clients were invited to attend a Duchenne
muscular dystrophy workshop hosted by Paedspal. Valued information was shared.
Annual Golf Day
Our sincere thanks to Goodwood Rotary Club for another success golf day, which took place on 12 October 2023. A special
thanks to Colin Jacobs for all the arrangements for the day.
Casual Day 2023 sticker sales
The Muscular Dystrophy Foundation Gauteng wishes to thank all our supporters who sold Casual Day
stickers. Your amazing support enabled us to sell over 1 000 stickers for 2023! Thank you all so much!

KZN branch reaches out to the community
By Wilma Botha
The KwaZulu-Natal Branch of the Muscular Dystrophy Foundation
of SA is based at the Somtseu Office Block, adjacent to
the historical Durban Hindu Temple in Somtseu Road, Durban.
Its role is to support people who are affected by muscular dystrophy
and their families by offering comprehensive medical
information, regular news updates and referrals to neurologists
and professional counsellors. It also facilitates contact
with specialised health services and assists with specialised
disability equipment. Most importantly, it raises awareness of
the services rendered by the Muscular Dystrophy Foundation
of South Africa and of muscular dystrophy as a whole, to dispel
the lack of knowledge, mythologies and stigma.
The KZN Branch thus supports the original aim of the Muscular
Dystrophy Foundation of South Africa (MDFSA), held since
it was founded in 1974, namely to reach out to parents and
families of affected individuals and to support research into
the disease with the ultimate goal of finding a cure, while continually
increasing the scope of its activities.
Muscular dystrophies are a group of about 70 genetic conditions
that are characterised by progressive weakness and
wasting of muscles. In South Africa about 1 in 1 200 people
are affected. Sadly there is still no definite cure, although
some benefit may be gained from physiotherapy, a balanced
diet, exercise programmes, orthopaedic devices, medication
and surgery. Many research projects in South Africa and
worldwide are seeking a cure for this disease.
Awareness is extremely important in KZN 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, elements
of the condition that could be avoided by timely action
are not preventable, and this worsens the affected child’s disability.
In some extreme cases, children are kept at home and
not taken to school so that they miss out on great opportunities
for learning, growth and development. The KZN Branch
requires more community volunteers to assist in awareness
drives and to spread the information.
Many of our affected members attend boarding schools so
that their parents can go to work during the week to try and
make a living for their families. Even so, these families still
struggle because the fees at these schools are higher.
The MDF KZN Branch is grateful to other support organisations
and networking partners. It appeals to anyone who is
related to or knows of someone suffering from any muscular
dystrophy (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 phone their offices urgently on
031 332 0211 or to email projectskzn@mdsa.org.za.
From all of us at MDFSA
Wishing you all the joy and happiness during
the holidays and the whole year through.

MDF KZN celebrates inspiring
stories of hope
By Wilna Botha
On Saturday, 9 September 2023, a large number of invited
affected members from Durban and surrounding, their families
and friends, and volunteers of KZN Branch gathered for
the branch’s 2023 AGM and Annual Awareness Day, held at
the Durban Jewish Centre. With September being Muscular
Dystrophy Awareness Month, the Awareness Day for the KZN
Branch is held on the same day as its AGM, so that many
affected members and guests can use this day to meet and
greet each other and to share their successes and challenges.
The theme for the event was “Your Support Means Hope” together
with “Get into the Green Scene”, and various banners
and posters highlighted the awareness of muscular dystrophy.
It was good to see many people dressed in the relevant awareness
colours.
paid tribute to her strong, passionate mother, who has supported
her throughout, motivating her to exercise and keep
herself as strong as possible. Zukiswa also shared her motto, “I
can and I hope”.
The meeting was once again a happy occasion, with a larger
attendance than ever before. This was evident from the 156
people who registered on arrival for the event. There is no
doubt that the Office Manager, Lovina Mahadaw and the
Branch Administrator, Debbie Goldstone had gone out of their
way to ensure that as many people as possible on their KZN
database were invited to attend. The number of attendees
from last year doubled this year, and the initiative taken by
the KZN Branch staff and Exco to hold the AGM and Awareness
Day on the same day is paying off. “The strategy used by
the branch was implemented last year and, hopefully, we
would like to see the consistent attendance numbers going
forward”, said Lovina.
After the formal business of the branch’s AGM, there were
various lucky draws, and gift bags and promotional items were
handed out to the affected members and to other young
guests.
The audience was captivated by the inspiring stories of hope
told by affected members and parents who volunteered to
speak. The highlight of the event was no doubt the stories told
by the young affected members, who are positive role models
for others.
For example, Nicole Padayachee, who is 21 years old and in
the final year of the LLB degree, told the audience that a secret
of her success is her motto, “I can, I will” and her affirmation,
“nothing stops me”. Nicole, who suffers from spinal muscular
atrophy (SMA), also told the audience that she raises
awareness of muscular dystrophy and in particular of SMA
wherever she can.
Twin sisters from Westville, Jayrashni (Pixie) and Kayrashni
(Molly), who both suffer from spinal muscular atrophy, gave a
moving account of how they constantly strive to keep themselves
healthy, strong and positive. They then shared their
dream of opening a shop that would sell chicken marinated in
their own special sauce. They currently have a business called
Hotshots, producing and selling chilli sauces and pickles, and
now seek a partner who would be interested in investing in a
new business and guiding them though the steps needed to
grow and expand their business.
Mrs Narbda Bhanjee, who is in her late 70s and who had lost
her daughter to muscular dystrophy just a month before,
spoke of the love and appreciation that is due to “the special
children that are entrusted to our care”. She appealed to parents
to give their special children all possible love, care and
support, so that there will be no regrets when they are no
longer around.
The vote of thanks was conducted by KZN Branch Exco member,
Prylash Singh, who thanked the following:
• Reutech Communications for promotional items and
gifts.
Zukiswa Biyela, a second-year BA degree student at UKZN,

and gifts.
• Solly Manjra Caterers for the deck of chicken breyani.
• Colin Kisten from CNC Caterers, Chatsworth for breakfast
snacks, catering dishes and cutlery.
• Planet Video for supplying and delivering the helium
balloons at cost.
• Pam Rapiti for payment towards helium balloons.
• Sweets and Biscuits, Pinetown for biscuits.
• Glenda Naicker from the Durban Jewish Centre for the
venue at discounted rates and the sponsoring of gift
hampers.
• Staff from the Durban Jewish Centre for assisting with
the setting up and clearance of the venue.
• Coo-ee for all the bottled cool drinks.
• MDF KZN volunteer Cheryl Moodley for the “Get into
the Green Scene” cake.
• Anesh Ramklass for transportation of food and his position
as the AGM Election Officer.
• Mr Ramlall from Southern Sun for the 4 x gift vouchers
for dinner, breakfast and accommodation.
• Tiger Brands for chocolates.
• MDF KZN Branch staff, Lovina Mahadaw and Debbie
Goldstone for the splendid event planning and organising
of sponsorships.
• Wilna Botha for all the interviews and writing of the
magazine articles during the year.
• Gerda and Dominic Brown for making the trip from
Johannesburg to KZN to attend the day’s event.
• Anesh Singh for the AGM onsite IT support.
• All volunteers of the MDF KZN Branch for their loyal
service to the branch.
• The KZN Branch Exco for their services in the past financial
year (2022–2023).
• All sponsors and donors who remained anonymous.
• All the guests who took the time to attend the event to
make it a success.
Finally, after a sumptuous lunch, the gathering assembled outside
the Durban Jewish Centre to release hundreds of red and
green balloons into the clear Durban sky to celebrate the lives
of affected members who had passed on during the previous
year.

World Muscle Society
congress 2023:
an experience to
remember!
By Prof Anri Human
I had the wonderful privilege to attend and present my research
at the 28 th Annual Congress of the World Muscle Society
(WMS), which was hosted in Charleston, USA (3-7 October,
2023). This opportunity was made possible through a fellowship
sponsored by the WMS to support early career researchers
and, in particular, attendees from low- and middle-income
countries. The congress included a plethora of oral presentations
and posters related to neuromuscular disorders (NMD),
including the latest trends and research in the field. Approximately
1 000 delegates attended in person, while more than
200 joined us online. As a paediatric physiotherapy lecturer of
the University of Pretoria, I was particularly appreciative of
the networking opportunities at this congress, which makes it
possible for industry, clinicians and researchers to collaborate
across the globe. The presentations on recent research and
development in diagnostics, clinical presentation and management
strategies in NMD were of great value.
I was honoured to be included in the prize-giving committee
this year, as the first representative from Africa in the history
of this congress. This was an amazing learning curve for me! I
am looking forward to building on this experience and being
part of the committee in 2024 again. At the congress I met
two colleagues from South Africa as well as international experts,
industry and patient advocacy groups with the same
passion and drive for making the world a better place, taking
hands and being stronger together. I cannot wait to implement
the new skills learned and new approaches in clinical
practice, at the NMD clinic and in research, and to share them
with others through teaching and workshops. Friendships and
relationships were forged during this congress that will take
us to the next level, in particular for South Africa and those
living with NMD. Future research, support, collaborations and
clinical projects are in the pipeline … so watch this space!
Fortunately, my new (and old) friends and I also had a chance
to explore the beautiful city of Charleston and experience traditional
South Carolina cuisine. An unforgettable experience
indeed!
We are excited about meeting again for the 29 th WMS congress
in Prague next year and building on what was started
Thank you Blue Bottle
Liquors
A huge thank you to Blue Bottle Liquors for
their continued support and the amazing
donation of R35 000 that was received. We
cannot thank you all enough for this!

Marking Casual Day 2023
By Madeleine Stoman
On Casual Day this year, 1 September, a few colleagues at
Overstrand Municipality, Hermanus, decided to dress in green
to support and create awareness about muscular dystrophy.
Spirits were high and everyone enjoyed taking photos. The
support I received from colleagues on the day, as well as on
many other occasions, has meant a lot to me. This year has
been a very tough one for me, as my condition has been declining
drastically.
Many close friends and family struggling with neurological illnesses
are always close to our hearts, but especially on Casual
Day we think of those with us, and those who have sadly
passed on because of their condition.
I want to take this opportunity also to thank the MDFSA for
their support throughout the years and all that you do to assist
the warriors living with muscular dystrophy. We each fight our
own battle, but support also goes a long way.
I want to especially thank my family, friends and husband as
well for the major support they provide.
Lastly, thank you to everyone who took part in Casual Day with
their support, high spirits and willingness to make this a fun
morning.

Thank you MDFSA
Mukovhe Maleri
I would like to thank all the people who helped me to get the wheelchair you gave me. It's really helpful to me because I can go
anywhere I want without anyone having to accompany me. I really appreciate it as I will be able to further my education. I hadn't
been able to go to school, but now I don't have any problem with that because of the wheelchair. I am very appreciative.
Bongile Booi
Thank you to the Muscular Dystrophy Foundation for your help with the wheelchair. I am now able to move around on my own.
God bless you.
Noxolo Thabethe
My name is Noxolo Thabethe, and I would like to say thank you very much to MDFSA and Wheelchairs on the Run for the new
electric wheelchair that I received last week.
Gugulethu Shongwe
I just want to thank you so much for your help – the past five years were the most difficult time for me without having a wheelchair.
It was hard for me even to move in the yard and I was always indoors. Thanks to you I now can move and go anywhere I
want to go. Please don't stop giving love and help as we really appreciate it. Thank you from the bottom of my heart.
The Hidden Pain
By Mandy Martin
In the depths of a parent's heart, a pain so profound,
To witness your children, with MD, bound.
With every step I’ll lend a hand,
To help you rise, and help you stand
I’ll hold you close when tears are shed,
And will give my all to help you take the next step
Helpless I have to witness your fight,
All that I can do is hold you tight
I have to watch your strength decline,
I yearn for a miracle to make it mine
A mix of emotions, a storm within,
How can I describe my feelings of sin
But this demon is relentless, its grip hard to restrain.
Your strength is unmatched, a beacon of light,
But my hear breaks silently, hidden from sight
I sit in a corner, shedding tears in silence,
In solitude I cower, weeping with quiet defiance.
In the face of struggles, a parent's heart does ache,
To witness their child's pain, their every step they take.
Your spirit, your fight dissolving, fading from sight,
Cuts through me like a jiggered knife
I wish I could bear all your pain
And trade places with you to take your strain
The burdens that weighing you down,
Together, we'll conquer and turn it around.
I long to protect you, to shield you from pain,
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.

California’s stem cell agency funds the potential gene editing
DMD therapy
(SACRAMENTO) UC Davis Professor Aijun Wang and his team
are collaborating with Murthy laboratory at UC Berkeley to
develop a much-needed cure for Duchenne muscular dystrophy
(DMD). They are designing a therapy to treat DMD before
birth by editing the gene that encodes dystrophin, a key protein
in stabilizing muscle fiber.
“We are developing a gene editing therapy that would allow
pregnant mothers to give birth to children who are free from
DMD,” said Wang, professor of surgery and biomedical engineering.
Wang is the vice chair for translational research, innovation
and entrepreneurship at the Department of Surgery
and co-directs the Center for Surgical Bioengineering at UC
Davis. He also leads the Wang Lab, a prime research hub in
stem cell therapy and gene editing for early treatments of
birth defects such as spina bifida.
This groundbreaking work is funded by a $2 million Quest
Award from the California Institute for Regenerative Medicine
(CIRM). The DISC-2 Quest Awards Program promotes the discovery
of promising new stem cell-based and gene therapy
technologies that could lead to broad use and improved patient
care.
The muscle weakness in DMD patients becomes increasingly
noticeable between the ages of 3 and 5. By the age of 12,
most patients require a wheelchair. By adolescence, the patient’s
heart and breathing muscles weaken, leading to serious,
life-threatening complications.
About Cure Duchenne Muscular Dystrophy (Cure DMD)
The team is developing a new technology called “Cure Duchenne
Muscular Dystrophy (Cure DMD).” The hope is to treat
DMD before birth by editing the genes that encode, or cause
the production of, dystrophin. The plan is to edit these genes
in the heart, diaphragm and limb muscles in utero and correct
the DMD mutations before the onset of the disease.
Overview of the study design. LNPs=lipid nanoparticles
Most DMD patients would need a wheelchair
What is Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy is a rare genetic disorder causing
muscle loss and physical impairments in young people. It is
characterized by muscle fiber degeneration due to a gene mutation
that prevents the body from producing fully functional
dystrophin.
Dystrophin protein plays a critical role in stabilizing the muscle
membrane when muscles contract. Without it, muscle cells
become damaged and weak.
Cure DMD will be delivered via an in-utero injection to the
fetus diagnosed with DMD. It will use a non-viral delivery
method known as lipid nanoparticle to transfect, or introduce,
cells using mRNA. This transfection causes the temporary expression
of an enzyme that does the gene editing. The Wang
and Murthy labs recently showed the feasibility of this approach
in a study published in Bioactive Materials.
“Gene editing provides a permanent cure as it is a correction
of the mutation,” Wang explained. “When the treatment is
offered before birth, and if it is done right with mutation efficiently
edited, one can prevent the disease from happening.”
The team will first test Cure DMD by giving an in-utero injection
to a pregnant DMD mouse model. They will evaluate the
safety of the treatment to the developing fetuses and pregnant
female mice and monitor the edited mice for any birth
defects.

Testing Cure DMD
The team will also test how well the formulation works in
cells derived from human DMD patients.
“The gene editing efficiency will be a key performance endpoint
that will determine the efficacy of Cure DMD,” said
Niren Murthy, professor of bioengineering at the University of
California at Berkeley and co-investigator on this project. The
team anticipates achieving editing efficiency that will result in
more than 5% of dystrophin expression.
make a long-lasting impact,” Wang said.
Professors Aijun Wang and Diana Farmer with members of
their labs at UC Davis
A dream team for Cure DMD
How is Cure DMD different from other current therapies?
According to Wang, in-utero therapy holds unique advantages
for accessing tissues that are hard to edit after birth. It would
also allow the genetic disease to be corrected at an early developmental
stage.
“A single injection would be sufficient for this therapy given
that gene editing is permanent. The edited cells will proliferate
and populate the organs naturally as fetal development
continues in the womb,” Wang said.
The team also estimates that an injection in utero will be significantly
more affordable than the current treatments for
adult patients. Because of that, Cure DMD has the potential to
be accessible to low-income patients and those in underdeveloped
parts of the world.
“We can potentially treat many patients before it's too late,
just like in spina bifida.” —Aijun Wang, UC Davis professor of
surgery and biomedical engineering
Currently, there is no non-viral gene editing treatment that
can fully correct the mutation of the DMD gene or restore fulllength
dystrophin before birth. Cure DMD uses a non-viral
gene editing mechanism. This gives it significant advantages
over therapies now available and those currently in clinical
trials.
Wang expects that the success of this study will open the door
to treatments for many other diseases. Many patients with
genetic disorders are not diagnosed or treated prenatally due
to lack of treatment options. With the new gene editing and
delivery technologies and more prenatal diagnoses, Wang
thinks the field of treating genetic diseases will be very much
changed.
“We can potentially treat many patients before it's too late,
just like in spina bifida. If you can correct the spinal cord injury
and prevent the neurons from dying, that's a big win and will
McDonald is a professor and chair of the Department of Physical
Medicine and Rehabilitation. He is an internationally recognized
expert in the clinical management and rehabilitation
of neuromuscular diseases, including muscular dystrophies,
and the development of novel outcome measures for clinical
trials.
Smith, an assistant professor in the Departments of Physical
Medicine and Rehabilitation and Neurobiology, Physiology
and Behavior, is a collagen and muscle characterization expert.
Other UC Davis collaborators include:
Diana Farmer, distinguished professor and chair of the Department
of Surgery and a world-renowned fetal surgeon
Jan Nolta, director of the Stem Cell Program and the UC Davis
Gene Therapy Center in the Institute for Regenerative Cures
Nipavan Chiamvimonvat, professor and associate chief for
research in the Division of Cardiovascular Medicine and a
leading expert in cardiac physiology
Herman Locsin Hedriana, medical director of prenatal diagnosis
of Northern California and chief of the UC Davis Division of
Maternal-Fetal Medicine. Hedriana is a leading expert in prenatal
diagnosis and maternal-fetal medicine.
Article available at: https://health.ucdavis.edu/news/
headlines/uc-davis-health-to-develop-in-utero-therapy-forduchenne-muscular-dystrophy-/2023/02
“Know me for my abilities, not my disability.” – Robert M. Hensel

5 things we’ve learned about finding a good college
for a son with DMD
How we've determined which schools are inclusive and accommodating
by Betty Vertin,
Muscular Dystrophy News Today
October 13, 2023
I always assumed my three sons with Duchenne muscular dystrophy
(DMD) wouldn’t get to experience college. I knew it
would depend on their health, disease progression, and openness
to making it happen, as well as all the typical things like
good grades and test scores.
However, as my boys — Max, 17, Rowen, 14, and Charlie, 12
— have grown, it has become apparent that college is an option,
especially for Max, who’s already begun the process. It
may look different for each of my sons with DMD, but based
on our first experience of preparing to send a son with Duchenne
to college, the following are five things we’ve learned
about finding and choosing a school.
1. Visit more than one
We picked five colleges we wanted to visit: a two-year community
college, two small, private, four-year schools, and both
a medium and large public university.
In the beginning, Max didn’t know what he was looking for. As
I mentioned in a previous column, Max didn’t dream of attending
college because he was never sure he could. So we picked
a variety of sizes and types to help him figure out what he did
and didn’t like about each.
Max recommends that you “don’t count out a school before
you visit.” His top choice is a university he didn’t think he’d like
but fell in love with once he saw the campus and met the people.
2. Don’t limit your choices to schools close to home
This advice came from a good Duchenne mom friend of mine.
I’d assumed Max couldn’t go to college far from home because
he’d be unable to live there alone. She told me not to limit
him, so we will let Max decide where he wants to go, and then
figure out the logistics.
Max has yet to decide, but he’s considering living on a campus
90 miles from home. I am so glad we didn’t limit our choices
based on distance. I love that he may have the typical experience
of living in a college dorm.
3. Not every college has ideal accommodations
I assumed we would find appropriate accommodations everywhere
we looked, but I was wrong. Max was unsure if he
wanted roommates, so he sought a single room and a private
bathroom. But not all colleges offer those options, especially
for first-year students. He would have to live with older students
instead.
As a disclaimer, some of the schools we toured failed to schedule
us a meeting with the campus disability coordinator as
we’d requested. If we had met with every disability office, we
may have found more accessible options.
Unsurprisingly, Max’s top picks are the schools where we met
with the disability coordinator. It sent the right message to us.
Through the tours, he found that he likes the suite style,
where he’d share common areas with roommates but have his
own bedroom and a more private bathroom setting.
4. Talk to students with disabilities
Disabled students living on campus will have firsthand
knowledge that tour guides, disability coordinators, and admissions
counselors do not, simply because they have lived
experience.
For example, Max talked with a former student who
has dyslexia. Yes, his needs differ significantly from Max’s, but
he could attest to the support he received and how easy it was
to work with the appropriate office to ensure accommodations.
That conversation went a long way.
5. Pay attention to the people
On some campuses, everyone walked around wearing AirPods
and looking at their phones. At others, everyone we passed
was engaged and said hello, professors and students alike. At
Max’s favorite campus, people held the doors open for him
without being asked. The vibe just said inclusion — and that
matters when you look different and have different needs
from most others on campus.
We can get Max moved into college by next fall, but first we
need to figure out financial aid, find personal care assistants,
and get answers to a growing list of questions. But in this Duchenne
life, worrying about those things is a win.
Article available at https://musculardystrophynews.com/
columns/5-things-weve-learned-finding-college-son-dmd/

Researchers awarded grant to study potential
therapeutic avenues for facioscapulohumeral muscular
dystrophy
Facioscapulohumeral muscular dystrophy is a rare genetic disorder that
causes progressive muscle weakness and atrophy, predominantly in the face,
shoulders, and upper arms, in an estimated 1 in 8,000 individuals.
By Cameron Warren, Virginia Tech, 22 September 2023
tors on the project. His research will center on assessing skeletal
muscle torque as a functional outcome measure in a specialized
mouse model of facioscapulohumeral muscular dystrophy.
By focusing on this mouse model, Grange aims to unravel
critical insights into the underlying mechanisms of the
disorder and develop innovative strategies for intervention
and treatment.
Mice with facioscapulohumeral muscular dystrophy show normal muscle fibers after
treatment with a targeted gene therapy. Image courtesy of Nationwide Children’s Hospital.
Researchers in the Department of Human Nutrition, Foods,
and Exercise in the Virginia Tech College of Agriculture and
Life Sciences were awarded a nearly $130,000 grant from the
venture philanthropy organization SOLVE FSHD to research
potential therapeutic avenues for facioscapulohumeral muscular
dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a rare
genetic neuromuscular disorder that progressively weakens
and atrophies muscles. It takes its name from the areas of the
body it typically affects: the facial muscles (facio-), shoulder
blades (scapulo-), and upper arms (humeral). Although it
affects a relatively small number of individuals, with an estimated
prevalence of 1 in 8,000, it can profoundly impact
those who have it and their families.
Professor Robert Grange, assistant department head of human
nutrition, foods, and exercise and director of
the Metabolism Core at Virginia Tech, is one of the investiga-
Mice with facioscapulohumeral muscular dystrophy (at left) show signs of muscle damage,
including centrally located nuclei (indicated by the arrow heads), different sized
myofibers (indicated by the brackets), and infiltrating immune cells (indicated by the
box). In contrast, treated facioscapulohumeral muscular dystrophy mice (at right) show
only normal fibers (indicated by arrows) and features of healthy muscle. Photo courtesy
of Nationwide Children’s Hospital.
Grange will partner with Scott Harper, a distinguished researcher
from Nationwide Children's Hospital who developed
the facioscapulohumeral muscular dystrophy mouse model
used in the funded study. Their combined expertise in muscle
biology and genetic disorders ensures a comprehensive approach
to tackling the challenges posed by the disorder.
This research project was selected as one of four initiatives to
receive funding from Solve FSHD’s recent Collaborative Grant
award. Solve FSHD, a leading organization dedicated to accelerating
FSHD research, awarded a total of $1.4 million toward
projects embracing collaboration between institutions to catalyze
and enhance novel potential therapeutics for FSHD.
Article available at https://news.vt.edu/articles/2023/09/
cals-hnfe-facioscapulohumeral-muscular-dystrophy.html

By Editorial Team, Spinal Muscular Atrophy.net
13 June 2021 (updated: April 2022)
People with spinal muscular atrophy (SMA) face many challenges
throughout life. Physical symptoms can lead to emotional
and social challenges for children. Dependence on others
and isolation can worsen mental health. SMA can also
make it hard for adults to work and date. Plus, healthcare
costs for people with SMA are often high.
Coping with SMA-related challenges is not easy. Taking care of
your mental health and building a support network can help
you cope and live your life to the fullest.
Children with spinal muscular atrophy
Children with SMA have normal mental and emotional development.
They are fulfilled by the same activities as other children.
Engaging in age-appropriate activities can increase independence
and confidence. Assistive equipment and changes to
the home and school environments can help with this.
However, children with SMA face physical and social challenges.
Physical limitations may make it hard to participate in activities.
Depending on other people can cause them to feel like
they have a lack of control. This can worsen quality of life. 1,2
Children with SMA carry a large emotional burden. Sadness,
anxiety, and loneliness are common. Some ways to improve
mental health include: 1,2
• Finding ways for them to exercise
• Ensuring they have proper nutrition
• Talking to a social worker, counselor, or therapist
• Finding healthy hobbies outside of school
• Maintaining optimism
• Arranging social activities or support groups
Adults with spinal muscular atrophy
Adults with SMA have the same desires for careers, relationships,
and independence. Physical limitations and social stigma
can make these harder. Gradual loss of muscle strength can
decrease independence and engagement in activities. This can
reduce quality of life and worsen mental health. 2,3
Adults with SMA report that working can help improve social
life, attitudes, and economic independence. Finding a job can
be hard. However, certain laws protect workers and require
employers to make reasonable accommodations. 2,3
Coping and grief
Diagnosis of SMA often happens during infancy. As a parent,
receiving the news that your child has SMA can cause a range
of emotions. Grief, fear, and distress are all normal. These
emotions are also common when diagnosis happens later in
childhood or adulthood. Ways to cope with a new diagnosis of
SMA include: 4
• Learn as much as you can about SMA and its treatments
• Try to manage the aspects of your life that you can
• Build a strong support network of people you can talk to
• Ask for help from family and friends
• Find hobbies and interests
• Talk to a therapist or counselor
People with SMA also cope with the condition as it progresses.
Any chronic condition can increase the risk of having periods
of poor mental health. As symptoms change over time, so will
its impact on your mental health. Ways SMA can impact mental
health include: 1,2,5
• Lack of control over symptoms
• Anxiety about the future (anticipatory grief)
• Low self-esteem
• Lack of independence
• Social isolation
Children with type 1 SMA have a life expectancy of under 2
years. Grief following the death of a child or loved one can be
intense. Plan end-of-life care options ahead of time. Let yourself
and your loved ones grieve however you need to. Ask for
support from friends and family when you need it. 6
Mental health and support groups
Poor mental health increases the risk of having other health
problems. Talk to a therapist or counselor about ways to stay
mentally healthy. They can help find ways to cope with future
challenges. Some ways to keep yourself healthy include: 2,5
• Maintaining optimism
• Developing a positive sense-of-self and body image
• Joining support groups
• Building a strong support network
• Practicing mindfulness
• Eating well and exercising
Finding ways to be independent
[…]
Costs of living with spinal muscular atrophy
People with SMA face high healthcare costs from hospital visits,
medical equipment, and prescription drugs. Yearly costs
vary widely for each person. This depends on disease severity,
treatments, and other personal factors. Better treatments and
screening will reduce healthcare costs. 8
[…]
References
López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I,
Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs
and health-related quality of life in patients with spinal
muscular atrophy (SMA) in Spain. Orphanet J Rare Dis.
2017;12(1):141. doi:10.1186/s13023-017-0695-0.

Ho H-M, Tseng Y-H, Hsin Y-M, Chou F-H, Lin W-T. Living with
illness and self-transcendence: the lived experience of patients
with spinal muscular atrophy. J Adv Nurs. 2016;72
(11):2695-2705. doi:10.1111/jan.13042.
Lamb C, Peden A. Understanding the experience of living with
spinal muscular atrophy: a qualitative description. J Neurosci
Nurs. 2008;40(4):250-256. doi:10.1097/01376517-
200808000-00009.
Coping with a diagnosis. Texas Children’s Hospital. Available at
https://www.texaschildrens.org/blog/coping-diagnosis.
Accessed 5/10/2021.
Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh W-S. Understanding
the experiences and needs of individuals with
Spinal Muscular Atrophy and their parents: a qualitative
study. BMC Neurol. 2015;15:217. doi:10.1186/s12883-015-
0473-3.
Order now !!!
Lövgren M, Sejersen T, Kreicbergs U. Parents’ Experiences and
Wishes at End of Life in Children with Spinal Muscular Atrophy
Types I and II. J Pediatr. 2016;175:201-205.
doi:10.1016/j.jpeds.2016.04.062.
Collaborators: Advocacy Groups. SMA Foundation. Available at
https://smafoundation.org/collaborators/nonprofit/. Accessed
5/10/2021.
Droege M, Sproule D, Arjunji R, Gauthier-Loiselle M, Cloutier
M, Dabbous O. Economic burden of spinal muscular atrophy
in the United States: a contemporary assessment. J
Med Econ. 2020;23(1):70-79.
doi:10.1080/13696998.2019.1646263.
Article available at: https://spinalmuscularatrophy.net/living
-with
Please meet our Mascot, Abiri. He comes from the capital of Leron, Ikadus. He was a
strong and courageous warrior in the army of the King of Ikadus. He made the long flight
to South Africa to help fight for the rights of people with muscular dystrophy. He’s now
happily settled at the Muscular Dystrophy Foundation of South Africa and spends his
days helping people with muscular dystrophy.
Abiri can be ordered from Sarie at nationalfinance@mdsa.org.za or 011 472-9703 at
R150. 00 each (excluding courier costs) .
MDFSA Merchandise
KIDS
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Nedbank Current Account
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Branch: 198765
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Ref: Merch & your name
Please email proof of payment to: nationalfinance@mdsa.org.za or
gmnational@mdsa.org.za

Corinne Grgas
By Rebecca Hume
Muscular Dystrophy Association
“Quest for success” blog, 30/06/2022
Nurse Practitioner Finds Purpose in Career and Community
In 2017, Corinne Grgas had recently married the love of her
life, earned her doctorate at Belmont University in Nashville,
and accepted a position as a nurse practitioner for Elite
Sports Medicine & Orthopaedics, an elective surgery private
practice. She was happily diving into the start of an exciting
new chapter when she received news that changed her life. A
few weeks before her graduation, Corinne was diagnosed
with a form of distal myopathy known as GNE myopathy, a
progressive neuromuscular disease that primarily affects the
skeletal muscles. Her initial fear, that she wouldn’t be able to
pursue the career she had worked so hard for, was soon replaced
with steely determination and a valuable understanding
that having a physical disability does not disqualify you
from achieving your dreams.
high level math and science classes and followed a college
preparatory curriculum, knowing that she wanted to pursue a
career in the medical field. When she met a nurse practitioner
at her high school’s career fair, she recognized the role
that she would seek.
The now 31-year-old nurse practitioner discovered that not
only is she able, but that her disability provides her with a
unique understanding of her patients and has introduced her
to the power of an incredible community of individuals and
families living with neuromuscular disease.
Early determination, early goals
Corinne’s father always commented on how incredibly determined
she was as a child. She loved a challenge and grew up
with parents who encouraged her to focus on goals and aim
high for her future. Surrounded by ambitious family and
friends who placed significant value on higher education,
Corinne began thinking about her future at a young age.
Fascinated by the way that the human body works, Corinne
fell in love with anatomy and science in high school. She took
Corinne with her parents and husband, Luke
Corinne earned an undergraduate degree from Trevecca Nazarene
University in Nashville and then went on to earn her
doctorate at Bellmont [sic] University in Nashville. She went
into the field with an open mind, uncertain of which specialty
route she would take. During a cardiology rotation, she noticed
that nearly every patient also reported back pain.
Corinne decided to write her dissertation on back pain and

arranged to do her rotation with a spine surgeon. That same
surgeon offered her a full-time position when she graduated.
do everything that they can so that she can do her job to her
highest potential.
By 2017, Corinne had been experiencing some leg and hand
weakness for a couple of years. She noticed that she fatigued
quickly on stairs and had some difficulty with her fine motor
skills. When Corinne received her diagnosis, her initial emotion
was fear. She was uncertain if she would be able to navigate
the physical requirements of her new job as her disease
progressed. She evaluated the physical requirements that her
position required – manipulating limbs, injecting patients
with medication, making rounds – and was fearful that disclosing
her diagnosis would put her job in jeopardy.
Never one to back down from a challenge, Corinne and her
husband began researching and discussing her options.
Corinne’s husband, Luke Grgas, is an avid researcher and
planner. He collected resources and information that enabled
her to assess her abilities and potential accommodations that
she might need. Her initial fear that her career would be over
before it started soon gave way to faith and determination
that she could – and would – continue to follow her dreams
on her quest for success.
Because she was already hired but had not yet started her
new position at the time of her diagnosis, Corinne had not
had to consider disclosing her disability in the interview process
but needed to decide how to disclose as a hired employee.
Nervous to disclose, she first met with a family friend who
works in the HR field and discussed things to consider when
disclosing a disability and her rights under the Americans with
Disabilities Act. She reviewed appropriate and empowering
ways to verbalize her needs. She then met informally with the
spine surgeon who had hired her and disclosed her diagnosis.
She also met with the HR manager at her health network for
a formal disclosure and to discuss the disease process and
potential future needs. Corinne shares that the surgeon and
her team have been nothing but extremely supportive. They
were eager to make accommodations and put a plan in place
for the HR manager to check in with Corinne every 6 months
to see if needs have evolved or changed.
Accommodations at work
Corinne uses a power wheelchair as her primary mode of
mobility at work. She can walk for a few moments at a time,
but her legs become weak and unsteady making her prone to
falling. She also has drop-foot and wears AFOs [ankle-foot
orthoses – Ed.] on both feet to help limit the increased fall
risk. When working at the hospital clinic or while doing
rounds on the surgery floor, Corinne will usually use her
wheelchair to get from room to room and then leave the
chair outside of her patient’s room and walk in. On days
when she experiences a higher level of muscle fatigue, she
stays in her power chair while visiting patients.
At work, HR provided Corinne with equipment that allows her
to use voice to text dictation for charting and making notes to
accommodate muscle fatigue in her hands. “With the way
that technology is going, I think there is a lot of opportunity
for people with disabilities to have careers now. Which is
incredible. I encourage people to pursue that,” Corinne says,
adding that working reinforces how able she is.
Because she works in a medical facility, there were not many
physical barriers that needed to be addressed. The bathrooms
are accessible and every building on site has elevators.
When staying late to finish charting one night, Corinne
learned the hard way that the front desk attendants lock
those elevators when they leave for the evening. Stranded on
the third floor, Corinne needed to be carried down three
flights of stairs by a nurse colleague – who then also carried
her heavy power chair down those same flights. Corinne
quickly developed a protocol with the front desk to ensure
that someone reaches out to her before locking the elevators
at night.
Grateful that her HR representative is diligent in checking in
with her every six months, Corinne advises others to be proactive
in updating their own HR departments as their needs
change. “It’s really nice that my employer reaches out to me,
but you can’t expect that. So really advocate for yourself as
your needs progress,” she says. “It can feel scary to ask, because
you don’t want to be a drain on your company, and you
want to be valuable. But sometimes you need to ask for what
you need so that you can be valuable.”
Corinne at graduation
“They have made me feel very valuable,” Corinne shares,
elaborating that her employer has made it clear that they will
Corinne and her husband, Luke
Corinne approached her HR representative with the need to

adjust her schedule when she felt concerned that she was not
physically able to see all the patients assigned to her. She was
having trouble walking in the evening and getting out of bed
in the morning and recognized that she needed to adjust her
physical activity during the day. She worked with HR to adapt
her schedule and allow more space and time between patients.
Navigating at home and staying active
Corinne lives at home with her husband, Luke, in Nashville.
They had been married for 6 months when she was diagnosed.
Corinne is quick to share that Luke is incredibly supportive,
motivating, and helpful. He takes responsibility for
the housework, cooking, cleaning, and laundry. He occasionally
assists her with dressing or doing her hair if she is especially
fatigued. She does not financially qualify for formal
caregivers and is grateful for her husband’s unwavering informal
support.
Luke also assists Corinne in getting out of the house in the
morning so that she does not need to make multiple trips
between the car and home. While they are looking to move
into a more accessible home, their current residence is not
wheelchair accessible. Corinne leaves her powerchair in her
van overnight and walks using a cane at home.
Corinne and Luke researched and purchased an alreadymodified
van on Craigslist. The van has a ramp on the side to
wheel her power chair in and out and has a swiveling driver
seat. Her vehicle does not have hand brakes at this time, but
she anticipates needing them in the near future and plans to
reach out to her local occupational and educational rehabilitation
services for assistance in funding and modifications.
Just as Corinne refused to allow her prognosis to slow her
down in her career, she also overcame boundaries by pursuing
adaptive recreation and staying active. Luke and Corinne
both enjoy being outdoors and finding new adventures. Since
her diagnosis, Corinne has gone adaptive skiing, hang-gliding,
and scuba diving. She enjoys spending time with friends and
family. And she also cherishes the new community and incredible
friendships that she has found because of her diagnosis.
The power of community
Corinne shares that the most powerful resource for her has
been building relationships with others in the neuromuscular
community. “Reaching out to other people who have been
through it is the most beneficial way to get practical advice,”
Corinne says. “Googling and research is overwhelming. Sit
down and talk to actual people, and they can tell you what to
do and what not to do.”
After she was diagnosed, Corinne joined Facebook groups
and an online GNE page and she registered with MDA.
Corinne shares that she has met and built significant friendships
since becoming involved with the MDA community and
MDA events. She met a local woman with the same diagnosis
at her local MDA Muscle Walk and the two became friends.
They chat frequently about their disease and about life.
Corinne finds value in having someone whom she can reach
out to her [sic] with questions and for support.
Corinne also read an article in Quest magazine that featured
an older man living with limb girdle muscular dystrophy
(LGMD) nearby in Tennessee. She found his address and
mailed him a letter. That letter sparked the beginning of a
years long friendship between him and his wife and Corinne
and Luke. He had been living with a neuromuscular disease
for much longer than Corinne and became a mentor to her.
Dinners, trips and visits, and long conversations set the foundation
of an incredible relationship. While he has since
passed away, Corinne and her husband stay in close contact
with his wife.
Corinne advises people living with a disability to connect with
their community. The support and resources that others can
share is both heartwarming and empowering. “Each person’s
story is a reminder that you can achieve whatever goal you
set for yourself – you are able,” Corinne says.
Article available at: https://strongly.mda.org/quest-forsuccess-corinne-grgas/

By Hilton Purvis
My wife and I have been enjoying our national parks for
more than 20 years, becoming frequent visitors to Addo,
Mountain Zebra and the West Coast parks whilst also
managing to take in the Karoo, Bontebok, and Kruger
parks as well as St Lucia and Hluhluwe in KZN. There
was however one park which had eluded us ... the Kgalagadi.
Our circle of friends was almost evenly split between
those who thought we were quite insane to consider visiting
the Kgalagadi and those who encouraged us at every
opportunity to "just do it"! We were warned of very high
daytime temperatures, poor road conditions and dust,
dust, plenty of dust. Added to the issue of my disability
limitations, we also generated a fair amount of chatter
around our motor vehicle, a bog-standard VW Tiguan in
front wheel drive configuration, which was deemed unsuitable.
We heeded all of the warnings and, arming ourselves
with soft sand driving lessons, the purchase of
various puncture repair and towing gear together with the
advice to lower tyre pressure to 1.6 bar, supplies of bottled
water, atomisers and neck scarves for soaking therein,
we headed north.
You can therefore imagine our surprise on the first morning
in the park as we "splashed" through the game entrance
gate, with the windscreen wipers swishing back
and forth. We looked at each other thinking "the dry Kalahari?"
The conditions certainly did not dampen the spirit
of the game and we quickly found ourselves surrounded
by soaking-wet pronking springbok at Samevloeiing as
they celebrated this welcome change from the baking
heat of previous weeks.
The rain quickly subsided and we were treated to days of
glorious sunshine, damp and dust-free roads and thankfully
lower temperatures. All of this combined to allow us
to drive with the windows down, filling the car with the
smells and sounds of the bush. This also meant that our
game-watching times could be extended to eight or nine
hours each day, starting at 6 a.m. and getting back to the
cottage only after 2 p.m., and sometimes even including
another late afternoon excursion. Of course, it also impacted
the type of viewing since the rain put a lot of water
onto the roads and into the bush. The waterholes were
therefore very quiet, and most of our encounters occurred
in the natural landscapes.
The naysayers didn't believe we would be able to make it
to Nossob but we nonetheless decided to give it a try,
even developing a liking for the silky-smooth sandy
roads, free of road and tyre noise. In Nossob we met up
with a number of Addo and Cape Town friends who were
visiting the park at the same time. All of them were driving
4x4s, and one couple offered to guide us north to Polentswa
to see just how far we could go. We found out
that the good road conditions allowed us to reach as far
as the picnic site of Lijersdraai, a beautiful area of the

park. Later in the trip, on the Auob river side, we made it
as far as the Dertiende Boorgat.
On our second afternoon in Nossob the proverbial heavens
opened and we experienced a massive rainstorm
lasting for nearly two hours, which flooded the campsite
and created a small moat around our chalet. This provided
us with perhaps the rarest sighting of all when we sat
in the Nossob bird hide (easily accessible) and watched
the Nossob river flow by! It was an extraordinary scene,
followed a couple of days later by the appearance of flowers
in the veld on bushes which days earlier had looked
stone dead. We were really privileged to witness this.
Since this was our first trip, we probably covered more
kilometres than normal, averaging 160 km per day. Certainly,
on future trips (and there will be future trips) we will
probably be spending more time at chosen destinations.
For this trip, however, the comfortable daytime temperatures
(they never exceeded 35 degrees) and good road
conditions allowed us to go exploring and cover areas of
the park we had never imagined possible for us or our
vehicle. The rains brought water and mud into the equation,
but those too were manageable with deflated tyres
and a bit of momentum!
We enjoyed wonderful sightings along both of the river
roads. Lions were never in short supply although they did
spend most of their time doing what lions do best, sleeping
under trees. The cheetahs were more accommodating
and we encountered them everywhere ‒ under one of the
trees at Melkvlei, prowling the open basin of Gemsbokplein,
and on a sand berm at Kaspersdraai, which was
a really close encounter. The giraffes of the Auob riverbed
provided us with endless entertainment as they
strode majestically down this sand superhighway or,
much to our shock and horror, galloped down the sand
dunes, or chose to browse amongst the trees, eye to eye
with some rather startled sociable weavers. We had
countless sightings of gemsbok, springbok, wildebeest,
hartebeest, kudu, brown hyena and steenbok, and even a
fleeting glimpse of a badger!
The birdlife was a particular treat, even for a couple who
do not consider themselves to be dedicated birders. It
would be an understatement to say it was plentiful, with
everything from the little finches and weavers through to
the hawks, falcons, big crested eagles, secretary birds
and about a million kori bustards! The park literature indicates
that there are approximately 200 resident kori bus-
tards. We think they might have omitted a zero in the
typesetting!
The landscapes were simply breathtaking! The open riverbeds,
red dunes, sprawling waterholes, gnarled trees,
rocky escarpments, and of course those expansive views
topped by huge thundercloud skies. Our wide-angle lens
saw a lot of use, and we even managed to try our hand at
some star photography of the crystal-clear, unpolluted
night skies. And the light ... that amazing Kgalagadi light,
which seems to mark every photograph with its unique
stamp.
The disabled accommodation is adequate although manageable
only with assistance. The bathrooms were
equipped with grab rails and folding shower seats, but
SANParks still makes use of elevated toilet seats, which
hopefully will change as the units are upgraded, so I can
look forward to sitting on the loo with my feet actually
touching the ground! Access into the units was also manageable,
although both Twee Rivieren and Nossob suffer
from the same problem of not having a paved parking
area linking the access ramp to the motor vehicle, which
would allow for safe transfer into and out of one's vehicle.
It must be noted that sand is a notable obstacle around
the camp sites and something which has to be taken into
account when planning a trip.
It has to be mentioned that the staff at Kgalagadi were
most helpful and when requested sought to make our
stay as comfortable as possible.
After twelve fantastic days we sadly had to depart, feeling
that we could quite easily turn the car around and do it all
again in a heartbeat. We had stepped out of our comfort
zone, tackled new ground and, thanks to the support and
encouragement of friends, had succeeded beyond our
expectations. A friend of ours had said that once we experienced
the red Kalahari sand between our toes we
would always want to return. He was certainly correct!
It was an outstanding trip, more an adventure than a holiday!
This article previously appeared in issue 60 of this magazine,
December 2019.

We all hope to leave behind some sort of legacy, be it
something we have created, information we have gathered,
or knowledge we have developed.
My wife is a keen photographer, and the topic of storing
and preserving her digital photographic files often comes
up as the technology matures. At least these days she
has the means of creating backups and copies which can
be stored in different places, including the Cloud. During
the film era there wasn't really a viable means of copying
a film negative, and storing them safely was an extremely
expensive space-consuming and time-consuming exercise.
Nevertheless, the question remains, what will ultimately
happen to one's digital files, whether they be photographs
or documents?
Technology is constantly evolving but not necessarily
making things easier. Twenty years ago one could buy a
digital film scanner which could be used to digitise and
archive 35 mm photographs. Those scanners are no
longer made, and to make matters worse the operating
systems which they operated under are no longer supported
(think DOS and the earliest editions of Windows).
Even if you have such a scanner (as I do) it will not operate
successfully if you do not have a vintage computer to
go with it. This dilemma continues to create headaches
for film photographers. Fortunately, if one uses only digital
cameras, storage space has become cheaper over
time and one can now back up data and images to external
hard drives, which can be stored at different locations
for safekeeping.
The photographic example described above serves as an
introduction to a concern I have about internet discussion
forums. These not only allow people around the world to
engage one another in conversation on various topics but
also serve as repositories of information. For the purposes
of this article, I will focus on the disability discussion
forums.
Many forums have existed for more than twenty years,
stimulating an active and vibrant interaction across the
globe and in doing so attracting a great deal of valuable
information and data. Information is shared about health
matters, sexuality, the design and construction of housing,
diet, relationships, exercise, child care, sport and recreation,
travel, access, technology, mobility devices, etc.
These are modern-day libraries. Over time the information
amounts to a formidable body of work which can
Digital days
prove to be invaluable to disabled people, many of whom
are not able to get access to this information locally or
personally. Much of this information and data could also
be utilised by medical professionals, if they so desired.
Membership of these forums can often exceed 10 000
individuals, from South Africa to Singapore, England to
Ecuador, and Uzbekistan to the United States. All that is
required is an internet connection and a reasonable understanding
of the English language. The disabled members
range from grizzled old veterans who have been
there, done that, and have all the T-shirts, right through to
the newly disabled for whom the world is suddenly a very
different place from what they had known before. Not all
participants are necessarily disabled, and often a significant
portion of the membership consists of caregivers,
parents of disabled children, spouses, etc. Many of these
people have a newly disabled person in their family and
are desperate to find out about current health concerns,
future prospects and how they might be able to assist.
One of the benefits of discussion forum websites is the
ability to maintain involvement in a particular discussion
thread over an extended period of time. One thread I am
currently following started in 2005 and has new information
added every day. To date it has had over 43 000
replies and has been viewed more than 2.3 million times!
When these discussion forums are disbanded, members
often turn to applications such as Facebook to try and
continue connecting with people. Unfortunately, Facebook's
format does not really provide for continuity of discussion,
and as we all know, it doesn't take long before a
particular topic slowly slides down the timeline, out of
sight and then out of mind. This can also happen inside a
discussion forum, but the ability to search for information,
categorise discussions into different groups, and force
active threads to bubble up to the top of the forum all
helps to keep discussion alive. Most of these forums are
privately owned, and as with all things, the day comes
when the owner either cannot afford to maintain the website
financially or, sadly, falls ill or dies. This invariably
leads to the shutting down of the forum and the subsequent
loss of decades of accumulated information. In the
last fifteen years I have witnessed at least four major disability
forums being shut down. Within a matter of days
these resources were switched off forever, their content
never to be seen again. New Mobility, ParaQuad, Wheelchair
Junkie, Apparelyzed. All gone. Everything lost. The
digital dustbin is permanent, and once a website or discussion
forum is closed down it never sees the light of

day again. I certainly have never seen a website resurrected
from the dead.
This brings us to an aspect of managing such websites
which is worthy of consideration. There are two philosophies
out there. One follows the notion that the individual
who owns the domain, website or forum and who pays
the bills has the final say as to its continued existence. If
I am happy with my forum, it stays. If for whatever reason
I am no longer happy, I close it down. In simple
terms, it's my toy and I will play with it as long as it suits
me. This works fine until the forum owner gets tired of
playing with their toy. Then the game stops, and the
tears begin. An alternative philosophy is one that says
the "ownership" of the forum belongs to all the people
who participate in it. The value of the forum lies in the
cross-section of its members and the amount and quality
of information they impart to the forum. This philosophy
provides for continuity of ownership, provided the original
forum owner develops the membership to be able to take
over when the owner is no longer able to continue. This
is in my opinion a mature philosophy, accepting that
what we create might well develop a life of its own which
is worthy of continuing once we are no longer around. It
provides the framework for a long-term vision, and if the
necessary foundations are set in place, the website's role
in the community can continue well into the future.
There is no right or wrong philosophy here. We are, after
all, dealing with human beings, and we all work differently,
have different goals, different expectations and different
attitudes to life. Living in a time when so much of
what we create is discarded so easily, it is worth considering
that digital information, in the form of websites and
discussion forums, is valuable. Due consideration should
be given before deciding to pull any plug which might
send it to an eternal black hole.

Sandra’s thoughts on
end-of-year fatigue
By Sandra Bredell
Some of us endure feelings of exhaustion, irritability, insomnia,
difficulty maintaining concentration and even a loss of
appetite as the year ends. There is such a thing as "end-ofyear
fatigue", which happens in the lead-up to the end of the
year holiday season. In addition to obligations to family and
other commitments, our bodies' wellness is disrupted because
they are not designed to withstand the stresses of the modern
world.
But, instead of focusing on the negative and the challenges
that we face, let’s look at some suggestions on self-care to
help you avoid letting end-of-year exhaustion escalate as the
holidays and the new year draw near.
asleep.
4. Exercise or focus on moving as your body allows you to.
To sustain your energy and enable you to manage the
tasks you need to accomplish, you must engage in movement,
whatever form suits you best.
5. Claim some time to relax.
Don't wait until you're exhausted and anxious, rest is essential!
6. Focus on getting a better quality of sleep.
At least seven hours of sleep is needed each night to restore
and recharge your body and mind.
1. You need to make time for yourself.
2. Eat regularly and maintain a good diet.
Your body needs the right food as fuel to provide you with
energy so that you can maintain your lifestyle and complete
the activities that you need to.
3. Decide to cut down on time spent on social media.
As much as we enjoy conversing with our friends and
family via social media, sharing photos and experiences, it
can also be tiring. Therefore, set some time aside to do
this, but refrain from spending too much time during the
day on it. It is also important not to be on your phone just
before bedtime. Rather do some reading before you fall
7. Organize
the space around you.
A neat, orderly space boosts your sense of control, lowers
anxiety, and enhances your self-esteem.
8. Learn to say “no” if you cannot take on another com
mitment or task.
This is possibly the most difficult of all, but also the most
significant. It's just not possible to do everything all the
time. Exhausting yourself in response to every request is
an easy way to burn out, and turning down requests
doesn't have to be unsettling or harsh.
So, in a nutshell, make recuperation a high priority. Get lots of
rest. Don't spend too much time on electronics. Tell a friend,

family member, or coworker whom you completely trust
about the difficulties you are experiencing. Make a list of the
obligations that cause you the most anxiety. Additionally, list
potential ways to lessen each stressor next to it. Get out of
your usual social groups and explore new locations. It's possible
that new encounters and experiences will change your
outlook on life.
I wish everyone a blessed holiday season and time with family
and friends. Also, safe travels if you are going to be on the
road, and a Blessed Christmas to those celebrating.
Resources
Reclaim.ai Blog. 2023. What is mental exhaustion? 9 healthy
treatment tips. 23 June. https://reclaim.ai/blog/preventmental-exhaustion.
We service, repair and sell mobility
products, wheelchairs, powered
wheelchairs and mobility scooters
Wheelchairs on the Run
Tel:011 9557007
https://wheelchairsontherun.co.za
Supplier of Mobility and
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Living

Question: My neurologist has diagnosed me with muscular
dystrophy. How do I genetically confirm the diagnosis and
establish the whole process of whom to contact, what the
test involves, pre- and post-test counselling and interpretation
of the results?
What is genetic testing?
Genetic testing is a type of medical test that aims to identify
the exact changes in our genes that cause disease. It is usually
performed by studying DNA – the genetic code that provides
the instruction manual to our body. There are many different
genetic tests – they differ in which genes are tested, how
many are tested at a time, and technically what type of test is
used (depending on the types of genetic faults being looked
for).
Why should I have genetic testing?
The results of a genetic test can confirm a suspected genetic
condition (diagnostic testing). Once a genetic diagnosis is confirmed,
there may be more specific management and therapy
that can be provided. Increasingly therapies are becoming
available, which require the exact genetic diagnosis to be defined.
Patients with different genetic faults may qualify for
different therapies.
Many patients and their families ask about other family members
developing similar symptoms to the individual with the
muscular dystrophy. Accurate information can be provided
only once the genetic diagnosis has been determined in the
affected individual, as conditions which look similar clinically
may have different inheritance patterns and thus different
risks.
Some tests may be able to predict whether an individual is
likely to manifest a condition that is present in their family
(predictive or preclinical testing) before the person has symptoms.
The tests may also be used to determine if an individual
is a silent carrier of a condition and whether the person is at
risk of having an affected child.
What genetic tests are available?
Many different genetic tests are available. They are complex
and need to be individualised for different people, based on a
combination of the clinical features present and the family
history. They can also be expensive. Even if two unrelated
individuals appear to have the same genetic condition, the
cause may be a fault in different genes or there may be many
different faults in the same gene. Different tests may be required
to identify the faults.
Newer genetic tests allow us to test many genes in parallel (in
a so-called gene panel) rather than one at a time. At present
these tests generally provide good options to reach a clear
answer. In some cases, where the clinical picture is more
distinct, it may be better to test a single gene in depth. No
panel covers all genes and/or genetic variants, so importantly
the best test has to be selected for each patient. Unfortunately,
genetic tests are still not perfect and may still not provide
answers or may provide results which are difficult to interpret.
Negative tests exclude certain conditions but do not exclude
a genetic issue.
Who should perform genetic testing?
Testing should be performed in consultation with a medical
geneticist or genetic counsellor, who can help to select the
test most appropriate for the patient and most likely to provide
the required information. Such health professionals
would be able to explain the value and limitations of genetic
testing for that individual. They would also be able to help in
interpreting results and advising on further management and
on risks to other family members.
“Start by doing what’s necessary; then do what’s possible; and suddenly you are
doing the impossible.”
-Francis of Assisi

Random gravity check...
By Andrew Marshall
Howzit guys,
As some of you will know, when I was first diagnosed
with this stupid thing, some of the doctors we spoke to
were really ambiguous about timelines because twentyfive
years ago not a lot was known about this brand of
muscular dystrophy. Zooming closer in, like all our different
brands it manifests differently in each lucky beneficiary.
So, time of onset, time before finally giving in to
using the wheels, general time of its progression to play
out in our bodies, and of course the severity of symptoms
can vary pretty drastically. So, I have been kicking
the elusive can full of timelines down the road for the
majority of my life. More pronounced in my twenties but
even when I realised I wasn’t about to kick the proverbial
bucket anytime soon, I always had something sitting on
my shoulder telling me that my life was over. I think because
little parts of our bodies are dying all the time, it’s
been hard not to buy into the narrative I had been given
and had built up in my screwed-up mind. Also, Dr Google
was equally ambitious as I, helping me to read about the
end stages of people’s lives and some crazy case studies
of guys who couldn’t breathe because their scoliosis was
so pronounced it was crushing their lungs. But even with
all this sloshing around my head, I still had a drive within
me to try to give back, to help my disabled community
and make my life worthwhile, leaving my imprint on life.
In the beginning I didn’t really know what to expect, but
I did know if I was idle for too long my mind would explode.
Gym has always been really important to me, not only
for the incredibly beneficial physical aspects of it but also
because it gave me something to do, something to put
my mind on. I made friends with the trainers, and together
we polished the fine art of talking kak. I was always
an extremely skinny kid, not only because of the
wonky muscles but also because my old man had been
just as skinny when he was a kid. So, I was always thinking
about eating as much as possible to try to put some
weight on, not entirely because I wanted to improve my
condition but also because I wanted to enlarge my guns
to impress the ladies. But I still wanted to give back. I
wasn’t studying anything, which I have many regrets
about now, but I also know myself and I probably would
have stuffed around and not finished, like with a lot of
stuff in my life. But I detested myself for just sitting on
my butt and not doing anything. I did a basic counselling
course and a weekend workshop over three months,
started talking to some of you guys at the Muscular Dystrophy
Foundation, and belonged to the Ataxia South
Africa community. Okay, it was basically a chat group for
us ataxians, and I used what I had learned there to empathise
with them. I also volunteered a few days a week
at the office of the MDF, basically licking and sticking
stamps on the physical magazine they sent out back in
the day. I also made a database for everyone’s addresses
and helped for a few years with the Ithuba proposals for
funding. I had a few jobs over the years and also did the
South African banking for my brother-in-law’s business
up in Botswana. Even though I was trying to keep busy
with bits and pieces, I can remember large chunks of the
younger me being really bored and having a sense of not
fulfilling my potential or following my purpose. At
around this time I read The Alchemist, a novel by Paulo
Coelho, which tells of a young man who goes on a journey
to find his purpose. I had no idea what my purpose
was though. I thought it could involve talking with other

with similar problems, and this was hugely liberating, but
I slowly learned I didn’t have a lot to talk about. I have
since learned that one of the biggest parts of counselling
people is just letting them tell you their story. People
just want to be heard, and very often it helps so much
just to talk to someone in a similar position with challenges
you can relate to.
After I stopped driving, I still wanted to tell people my
story, tell people what it has felt like as my muscles have
slowly stopped working, and explain my emotions and
feelings at the time. I had been encouraged by a few
people to write a memoir, and after a few years of trying
here and there, I met Andrew Miller (also with MD), and
he held my hand and guided me through the writing and
publication process. I got so much phenomenal feedback,
not only from friends and family but also from
many people around the globe, and this made me feel
like I was finding my purpose to a certain extent. I told
you guys about the video project I am currently setting
my mind to. It’s still in the post, but as with everything in
my life, it is happening painfully slowly. I’ve run into a
few brick walls, but things are moving again, so please
continue watching this space – hopefully something
pretty cool will evolve next year. Maybe I will revitalise
something I was going to start when Covid foiled my
plans. What I am saying is I have had and found quite a
bit of stuff to give me meaning and a sense of purpose
throughout my time here, but in between I have felt that
I’ve been stumbling around and not amounting to anything
or fulfilling my potential. What I want to tell you is
that just by being you and living your life, you are putting
yourself out into the world and are changing the perspective
of not only your friends and family but also the
random guy at the shops. If you had told me this when I
was younger, I’d have wanted to punch you in your ear
because I thought I was going to accomplish something
titanic. But I realise now the power that lies in just being
able to change the perspective of another small dude in
the shops about his own life. I am encouraging you just
to keep yourself busy doing small things for yourself or
to help your family. If you set your mind to doing stuff
that way, you won’t drive yourself bonkers thinking
about scenarios that might have been possible or can
never be a reality. I wish someone had told me this when
I was first diagnosed.
The attitude I’ve advocated gives you less time to ruminate
about the ‘could-have’, ‘would-have’, ‘should-have’
stuff. I have seen both sides of this, when I was younger
and more so in the past few years. Time has been a
weird concept throughout my life – and I’m pretty sure
the same goes for a lot of you guys too.
In Memoriam
There are special people in our lives who never leave us, even after they
are gone.
Our hearts go out to the families and friends who lost loved ones. The Gauteng branch sadly lost the following
members during 2023.
•
•
Lister Nxumalo
Ntswaki Mangwane
• Jonathan Groenewald
• Jason Howieson
• Tiaan Greyling
• Richard Africa
• Abraham Mabogoane
• Mzamane Daliwonga
• Eric Taruradza
• Tumisho Thobela
• Carol Oosthuizen
Sadly, the Muscular Dystrophy Foundation Cape Branch also lost two members, namely Safaa Mowlana and Taariq
Hassan. May their dear souls rest in eternal peace.