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MAGAZINE<br />
Autumn <strong>Issue</strong> <strong>67</strong><br />
<strong>April</strong> <strong>2022</strong><br />
Muscle Riders <strong>2022</strong><br />
Life at the<br />
Intersection<br />
of Disability<br />
and LGBTQ<br />
Eye problems in<br />
different types<br />
of muscular<br />
dystrophies<br />
Investing in<br />
Genetic<br />
Testing
POWERbreathe Better Breathing<br />
NEW<br />
KHP2-Model<br />
for Patients<br />
NEW<br />
LOAD RANGE<br />
1-78 cmH 2 O<br />
NEW<br />
NHS<br />
APPROVED FOR<br />
PRESCRIPTION<br />
IN THE UK
CONTENTS<br />
<strong>MDF</strong> MAGAZINE<br />
MD Information<br />
10 Products for reduced hand function<br />
12 Cellular Therapy Treats Muscular Dystrophy Effectively<br />
14 New Long-term Approach for Limb-girdle Muscular Dystrophy<br />
16 Investing in Genetic Testing<br />
» p.10<br />
People<br />
17 Kevin’s Story<br />
18 Life at the Intersection of Disability and LGBTQ<br />
20 "Nothing I wouldn't do": This dad is climbing Mount Everest to<br />
raise awareness and money for his son's condition<br />
22 Life-Saving PJ’s Protocol Was Inspired by a Person With DMD<br />
» p.15<br />
» p.20<br />
TRAVEL<br />
26 SAFARI TENT LIVING ... Part 2<br />
Regular Features<br />
25 Doctor’s column<br />
28 The view from down here<br />
30 Random gravity checks<br />
Research<br />
32 Fulcrum Plans Phase 3 Trial of Potential 1st Oral Therapy for<br />
FSHD<br />
34 Genetic treatment plus exercise reverses fatigue in mice with<br />
muscle wasting disease<br />
Healthy Living<br />
36 Speech Therapy<br />
38 Eye problems in different types of muscular dystrophies<br />
» p.34<br />
Published by:<br />
Muscular Dystrophy Foundation of SA<br />
Tel: 011 472-9703<br />
Fax: 086 646 9117<br />
E-mail: national@mdsa.org.za<br />
Website: www.mdsa.org.za<br />
Publishing Team:<br />
Managing Editor: Gerda Brown<br />
Copy Editor: Keith Richmond<br />
Publishing Manager: Gerda Brown<br />
Design and Layout: Divan Joubert<br />
Cover photo by Strike a Pose<br />
Future <strong>Issue</strong>s: August <strong>2022</strong><br />
(Deadline: 1 July <strong>2022</strong>)<br />
The Muscular Dystrophy Foundation<br />
of South Africa<br />
We are a non-profit organisation that supports people affected<br />
by muscular dystrophy and neuromuscular disorders and that<br />
endeavours to improve the quality of life of its members.
From The Editor:<br />
Dear reader<br />
Every start of a new year is a new chance to get the year off to a good start. There<br />
is a lot to be said for “positive self-talk”, and many people believe that a positive<br />
mindset brings more positive effects into your life. Whether you believe this or<br />
not, having a positive mindset is never going to be a bad thing.<br />
All of us keep a running conversation with ourselves throughout the day. It<br />
could be personal observations or thoughts on life or the circumstances of your day. Instead<br />
of continuing the pattern of negative self-talk, break the cycle and practise how you can change your<br />
outlook on life and increase your self-esteem with positive thoughts.<br />
“Watch what you tell yourself, you’re likely to believe it.” – Russ Kyle<br />
How you feel about yourself depends on how you “speak” to yourself – with positive self-talk or negative<br />
self-talk. Very often, we take negative things people say to us and replay them over and over in our<br />
minds. Eventually, we hear this negative message from ourselves so often that we start to believe it<br />
and feel angry, fearful or even guilty. Overwriting these thoughts with positive self-talk changes those<br />
feelings to joy, hopefulness, and happiness.<br />
The Foundation also started this year on a positive level. At our Strategic Planning meeting we made<br />
plans on how to assist our members better and also how to keep in line with global trends. You can<br />
read more about these plans in “National News”. In this edition you can also read about innovative<br />
assistive devices, available treatment options and the newest research projects.<br />
We wish you well for this year. Make it a positive one despite what is going on in the world right now.<br />
If there is information that you would like to share with our readers, please feel free to contact the<br />
office.<br />
Warm regards<br />
Gerda Brown<br />
4
<strong>MDF</strong> Notice Board<br />
Subscription and contributions to the<br />
magazine<br />
If you have any feedback on our<br />
publications, please contact the<br />
National Office by e-mail at national@<br />
mdsa.org.za or call 011 472-9703.<br />
If you are interested in sharing your<br />
inspirational stories, please let us<br />
know and we'll be in touch to discuss<br />
this with you. The Foundation would<br />
love to hear from affected members,<br />
friends, family, doctors, researchers<br />
or anyone interested in contributing to<br />
the magazine. Articles may be edited<br />
for space and clarity.<br />
<strong>MDF</strong> SA database<br />
If you know people affected by<br />
muscular dystrophy or neuromuscular<br />
disorders who are not members,<br />
please ask them to contact us so that<br />
we can register them on our database.<br />
If we do not have your current e-mail<br />
and postal address, please contact<br />
your branch so that we can update<br />
your details on our database.<br />
How can you help?<br />
Contact the National Office or your<br />
nearest branch of the Muscular<br />
Dystrophy Foundation of South Africa<br />
to find out how you can help with<br />
fundraising events for those affected<br />
with muscular dystrophy.<br />
Fundraising<br />
Crossbow Marketing Consultants<br />
(Pty) Ltd are doing invaluable work<br />
through the selling of annual forward<br />
planners. These products can be<br />
ordered from Crossbow on 021<br />
700-6500. For enquiries contact the<br />
National Office by e-mail at national@<br />
mdsa.org.za or call 011 472-9703.<br />
Contact the National Office or your<br />
nearest branch, or visit our website,<br />
to find out how you can support the<br />
Foundation.<br />
<strong>MDF</strong> support information<br />
For more information about the Muscular Dystrophy Foundation, the<br />
benefits of being a member and details on how to become a member, call<br />
your nearest branch.<br />
NATIONAL OFFICE<br />
E-mail: gmnational@mdsa.org.za<br />
Website: www.mdsa.org.za<br />
Tel: 011 472-9703<br />
Address: 12 Botes Street, Florida<br />
Park, 1709<br />
Banking details: Nedbank, current<br />
account no. 1958502049, branch<br />
code 198765<br />
CAPE BRANCH (Western Cape,<br />
Northern Cape & part of Eastern<br />
Cape)<br />
E-mail: cape@mdsa.org.za<br />
Tel: 021 592-7306<br />
Fax: 086 535 1387<br />
Address: 3 Wiener Street,<br />
Goodwood, 7460<br />
Banking details: Nedbank, current<br />
account no. 2011007631, branch<br />
code 101109<br />
GAUTENG BRANCH (Gauteng,<br />
Free State, Mpumalanga, Limpopo<br />
& North West)<br />
E-mail: gauteng@mdsa.org.za<br />
Website: www.mdfgauteng.org<br />
Website: www.muscleriders.co.za<br />
Tel: 011 472-9824<br />
Fax: 086 646 9118<br />
Address: 12 Botes Street, Florida<br />
Park, 1709<br />
Banking details: Nedbank, current<br />
account no. 1958323284, branch<br />
code 192841<br />
Pretoria Office<br />
E-mail: swpta@mdsa.org.za<br />
Tel: 012 323-4462<br />
Address: 8 Dr Savage Road,<br />
Prinshof, Pretoria<br />
KZN BRANCH (KZN & part of<br />
Eastern Cape)<br />
E-mail: kzn@mdsa.org.za<br />
Tel: 031 332-0211<br />
Address: Office 7, 24 Somtseu Road,<br />
Durban, 4000<br />
Banking details: Nedbank, current<br />
account no. 1069431362, branch<br />
code 198765<br />
General MD Information<br />
Cape Town<br />
Lee Leith<br />
Tel: 021 794-5737<br />
E-mail: leeleith@mweb.co.za<br />
Duchenne MD<br />
Cape<br />
Win van der Berg (Support Group)<br />
Tel: 021 557-1423<br />
Gauteng<br />
Jan Ferreira (Support Group<br />
– Pretoria)<br />
Cell: 084 702 5290<br />
Christine Winslow<br />
Cell: 082 608 4820<br />
Charcot-Marie-Tooth (CMT)<br />
Hettie Woehler<br />
Cell: 079 885 2512<br />
E-mail: hettie.woehler@gmail.com<br />
Facioscapulohumeral (FSHD)<br />
Gerda Brown<br />
Tel: 079 594 9191<br />
E-mail: gmnational@mdsa.org.za<br />
Friedreich’s Ataxia (FA)<br />
Linda Pryke<br />
Cell no: 084 405 1169<br />
Nemaline Myopathy<br />
Adri Haxton<br />
Tel: 011 802-7985<br />
Spinal Muscular Atrophy (SMA)<br />
Zeta Starograd<br />
Tel: 011 640-1531<br />
Lucie Swanepoel<br />
Tel: 017 683-0287<br />
5
National News<br />
What is <strong>MDF</strong>SA planning for <strong>2022</strong>?<br />
The mission of the Muscular Dystrophy Foundation of South<br />
Africa is “to support people affected by muscular dystrophy and<br />
neuromuscular disorders and endeavour to improve the quality<br />
of life of its members”. To remain relevant and in line with global<br />
trends, the Executive Committee, together with representatives<br />
from the branches, met on 12 March <strong>2022</strong> to discuss the way<br />
forward for the Foundation and how we should transform our<br />
programmes to serve our members better.<br />
This year we will change our focus from a generic approach to<br />
specific types of muscular dystrophy. Support groups will be<br />
established for selected types of muscular dystrophy as well as<br />
creating national and international alliances and networks. This<br />
will ensure that we can share the newest developments with you,<br />
our very special members.<br />
We will also strengthen our awareness and public education<br />
programmes and invest in the upskilling of our employees.<br />
A very exciting development is our partnership with TREAT-<br />
NMD in the United Kingdom. TREAT-NMD is a network for the<br />
neuromuscular field that provides an infrastructure to ensure that<br />
the most promising new therapies reach patients as quickly as<br />
possible. The network’s focus has been on the development of<br />
tools that industry, clinicians and scientists need in order to bring<br />
new therapeutic approaches through preclinical development<br />
and into the clinic, and on establishing best-practice care<br />
for neuromuscular patients worldwide. We are very thrilled<br />
to implement this project as it will bring us one step closer to<br />
accessing therapies and treatments as they become available.<br />
We are very eager to start implementing the objectives of the<br />
Strategic Plan and are hopeful that our members will join us on<br />
this journey.<br />
6
National News<br />
We are stronger together<br />
By Gerda Brown<br />
A support group brings people together who are going through, or have gone through, similar experiences; it<br />
provides them with an opportunity to share personal experiences and feelings, coping strategies, or firsthand<br />
information about diseases or treatments (Mayo Clinic, 2020).<br />
According to the Mayo Clinic, the benefits of participating in a support group may include the following:<br />
• Feeling less lonely, isolated or judged<br />
• Reducing distress, depression or anxiety<br />
• Talking openly and honestly about your feelings<br />
• Improving skills to cope with challenges<br />
• Staying motivated to manage chronic conditions or stick to treatment plans<br />
• Gaining a sense of empowerment, control or hope<br />
• Improving understanding of a disease and your own experience with it<br />
• Getting practical feedback about treatment options<br />
• Learning about health, economic or social resources<br />
Support groups have been established for Duchenne, limb-girdle, and facioscapulohumeral muscular<br />
dystrophies and spinal muscular atrophy. If you would like to join a group, please contact Gerda Brown at<br />
gmnational@mdsa.org.za or 011 472-9703.<br />
Resource<br />
Mayo Clinic. 2020. “Support groups: Make connections, get help.” https://www.mayoclinic.org/healthylifestyle/stress-management/in-depth/support-groups/art-20044655#:~:text=Benefits%20of%20<br />
support%20groups&text=Feeling%20less%20lonely%2C%20isolated%20or,skills%20to%20cope%20with%20<br />
challenges<br />
7
National News<br />
? ? ?<br />
The Muscular Dystrophy Foundation of South Africa is looking for a mascot, and we want YOU to design it.<br />
Think you have what it takes? Then start drawing, and don’t forget to give it a name!<br />
Entries should be A4 size and in full colour.<br />
WANTED!<br />
<strong>MDF</strong>SA mascot<br />
Reward<br />
Please send your entries to Gerda Brown at gmnational@mdsa.org.za by 30 June <strong>2022</strong>.in R500.00 for your<br />
design and mascot name!<br />
S<br />
LUTIONS<br />
www.wheelchairs.co.za Medical<br />
sales@wheelchairs.co.za<br />
8
<strong>MDF</strong> merchandise<br />
Please email your order and proof of payment to<br />
gmnational@mdsa.org.za<br />
Masks are<br />
available in<br />
S-M & L-XL:<br />
R60,00 each.<br />
Embroidered<br />
decals: R100,00<br />
T-shirts are<br />
available in<br />
S-M & L-XL:<br />
R130.00<br />
Please note that the delivery<br />
charge is for your cost.<br />
Mug<br />
R60,00 each.<br />
Water bottle<br />
(500 ml) R50.00<br />
Bottle opener<br />
R50.00<br />
Notebook<br />
water bottle<br />
(380 ml) R100.00<br />
<strong>MDF</strong>SA would also like to say a big thank you to Tamryn Oosthuizen for<br />
designing the beautiful artwork for our fundraising campaigns free of<br />
charge.<br />
9
MD Information<br />
PRODUCTS FOR REDUCED<br />
HAND FUNCTION<br />
Active Hands make gripping aids that gently,<br />
yet firmly hold your hand into a gripping shape<br />
enabling you to hold tightly onto objects from<br />
hammers to garden tools; gym equipment to<br />
drumsticks; ski-outriggers to boat tillers; adaptive<br />
bike handles to musical instruments; and many<br />
more. Our gripping aids are designed so that the<br />
user can put them on independently. Our Small<br />
Item gripping aid is great for holding smaller<br />
items such as make-up brushes, personal care<br />
items, cutlery, pens and paintbrushes.<br />
Our gripping aids are ideal for tetraplegic/<br />
quadriplegics, those with Cerebral Palsy, stroke<br />
recovery or any disability that affects hand<br />
function. Some of our products are also suitable<br />
for those with limb difference.<br />
10
MD Information<br />
Active Hands can give you more freedom – take a<br />
look at our How to section to give you more ideas<br />
on how you can increase your independence using<br />
our gripping products.<br />
Article and further information available at:<br />
https://www.activehands.com/<br />
S<br />
LUTIONS<br />
www.wheelchairs.co.za Medical<br />
sales@wheelchairs.co.za<br />
11
MD Information<br />
CELLULAR THERAPY TREATS MUSCULAR<br />
DYSTROPHY EFFECTIVELY<br />
BY ANGELA MOHAN<br />
MEDINDIA, MARCH 14, <strong>2022</strong><br />
Findings from the trial were published in The<br />
Lancet.<br />
In the Phase II clinical trial, the researchers used<br />
Capricor Therapeutics' CAP-1002 allogeneic<br />
cardiosphere-derived cells (CDCs) obtained<br />
from human heart muscles. These cells can<br />
reduce muscle inflammation and enhance cell<br />
regeneration.<br />
"The primary mechanism of the CAP-1002<br />
therapy is to help reduce the disease's serious<br />
chronic inflammation problems, decrease fibrosis<br />
and improve muscle regeneration, and thereby<br />
maintain or improve critical heart and skeletal<br />
muscle function", McDonald said.<br />
The jury is still out. Several companies have high<br />
hopes for candidates under development.<br />
Cellular therapy offers promise for patients with<br />
late-stage Duchenne muscular dystrophy (DMD),<br />
a rare genetic disorder causing muscle loss,<br />
physical impairments, as per the new clinical trial.<br />
The therapy appears to be safe and effective in<br />
stopping the deterioration of upper limb and<br />
heart functions. It is the first treatment to lead to<br />
meaningful functional improvements in the most<br />
severe cases of DMD patients.<br />
"HOPE-2 is the first clinical trial to test systemic<br />
cell therapy in DMD", said Craig McDonald, the<br />
trial's national principal investigator and lead<br />
author on the study.<br />
"The trial produced statistically significant and<br />
unprecedented stabilization of both skeletal<br />
muscle deterioration affecting the arms and heart<br />
deterioration of structure and function in nonambulatory<br />
DMD patients".<br />
The trial examined the long-term efficacy and<br />
safety of repeated intravenous infusions of CAP-<br />
1002 for the treatment of late-stage DMD.<br />
It enrolled 20 patients with DMD at seven U.S.<br />
centers. The participants were at least 10 years<br />
old with moderate weakness in their arms and<br />
hands. They were randomly assigned to receive<br />
either CAP-1002 or a placebo every three months<br />
for one year, with a total of four infusions.<br />
The team assessed upper limb function using<br />
the scale Performance of Upper Limb (PUL) motor<br />
function for DMD, heart function using cardiac<br />
magnetic resonance imaging (MRI), spirometry<br />
measures of respiratory function, and circulating<br />
biomarkers.<br />
The researchers assessed the PUL for the<br />
participants at their first infusion and after one<br />
year. They measured the change in the mid-level/<br />
elbow PUL scores between these two readings.<br />
The study found significantly favorable change in<br />
participants who received CAP-1002, compared<br />
to those who got the placebo. There was far less<br />
deterioration of upper extremity muscle function<br />
in the cell-treated group.<br />
12
MD Information<br />
The cardiac MRI also showed that the heart<br />
structure and function seemed to improve in<br />
participants who received CAP-1002.<br />
"Here we show the promise of cell therapy in<br />
preventing the progression of heart disease in<br />
a rare genetic disease, but there is good reason<br />
to believe that such therapy may one day also be<br />
used for more common forms of heart failure",<br />
said co-author Eduardo Marban, a pioneering<br />
heart researcher who first discovered that CDCs<br />
might be useful in treating DMD.<br />
McDonald and collaborators in other centers in<br />
the United States are launching a Phase III clinical<br />
trial, HOPE-3. The goal of this study is to confirm<br />
the efficacy of CAP-1002 in a larger cohort of<br />
patients.<br />
"The FDA has signaled that a larger Phase III<br />
study would be the next step toward gaining drug<br />
approval. We need to confirm therapeutic durability<br />
and safety of CAP-1002 beyond 12 months for the<br />
treatment of muscular degeneration in the heart<br />
and skeleton", McDonald said.<br />
DMD is a disorder that affects about 1 in 5,000<br />
people - mostly boys. It usually becomes apparent<br />
in early childhood, causing progressive weakness<br />
and chronic inflammation of the skeletal, heart<br />
and respiratory muscles and delays milestones<br />
such as sitting and walking.<br />
Patients with DMD typically lose their ability to<br />
walk in their teenage years and develop heart and<br />
lung complications as they age.<br />
reatments for DMD are limited and there is no<br />
known cure. Current therapies that target skeletal<br />
muscles are not as effective in treating the heart<br />
muscle weakened by DMD.<br />
A therapy that stabilizes or reverses heart<br />
deterioration, while improving upper limb function,<br />
would be unique in its ability to address the<br />
tremendous burden of disease seen in advanced<br />
DMD patients.<br />
"This cell-based therapy is innovative in that<br />
it addresses critical needs of patients with the<br />
most severe disease burden and stabilizes both<br />
upper limb and heart function. Therapies that<br />
address the later stages of the disease can make a<br />
tremendous impact on the quality of life for boys<br />
and young men with DMD and lessen the burden<br />
of care for their families", McDonald said.<br />
Article available at https://www.medindia.net/news/cellular-therapy-improves-signs-andsymptoms-of-duchenne-muscular-dystrophy-206082-1.htm<br />
13
MD Information<br />
NEW LONG-TERM APPROACH FOR<br />
LIMB-GIRDLE MUSCULAR DYSTROPHY<br />
BY DR JAYASHREE<br />
MEDINDIA, JANUARY 5, <strong>2022</strong><br />
N<br />
A new gene therapy for a rare disorder, known<br />
as limb-girdle muscular dystrophy (LGMD) was<br />
developed by experts at Children's National<br />
Hospital.<br />
The treatment was safe, and muscle strength [sic],<br />
according to the study published in the Journal of<br />
Clinical Investigation.<br />
“A single injection of a low dose gene therapy<br />
vector in limb-girdle muscular dystrophy restored<br />
the ability of injured muscle fibers.”<br />
With an incidence of less than 1 in 100,000,<br />
LGMD2B is a rare disorder caused by a genetic<br />
mutation in a large gene called dysferlin. This<br />
faulty gene leads to muscle weakness in the arms,<br />
legs, shoulder, and pelvic girdle.<br />
Affected children and adults face trouble walking,<br />
climbing stairs, and getting out of chairs.<br />
Individuals typically lose the ability to walk within<br />
years after the onset of symptoms and often need<br />
assistance with everyday tasks such as showering,<br />
dressing, and transferring.<br />
A new study described an approach that avoids<br />
the need for packaging a large gene, like dysferlin,<br />
or giving a large vector dose to target the muscles,<br />
which are bottlenecks faced in ongoing gene<br />
therapy efforts aimed at muscular dystrophies.<br />
"Currently, patients with LGMD2B have no gene or<br />
drug-based therapies available to them, and we are<br />
amongst the few centers developing therapeutic<br />
approaches for this disease," said Jyoti K. Jaiswal,<br />
M.Sc. Ph.D., senior investigator of the Center for<br />
Genetic Medicine Research at Children's National.<br />
The genetic defect in dysferlin that is associated<br />
with LGMD2B causes the encoded protein to be<br />
truncated or degraded. This hinders the muscle<br />
fiber's ability to heal, which is required for healthy<br />
muscles.<br />
In recessive genetic disorders, like LGMD2B,<br />
common pre-clinical gene therapy approaches<br />
usually target the mutated gene in the muscle,<br />
making them capable of producing the missing<br />
proteins.<br />
The large size of the gene mutated in this<br />
disease, and impediments in body-wide delivery<br />
of gene therapy vectors to reach all the muscles,<br />
pose significant challenges for developing gene<br />
therapies to treat this disease.<br />
To overcome these challenges, researchers<br />
found another way to slow down the disease's<br />
progression. They built upon their previous<br />
discovery that acid sphingomyelinase (hASM)<br />
protein is required to repair injured muscle cells.<br />
Based on this fact, researchers administered a<br />
single in vivo dose of an Adeno-associated virus<br />
(AAV) vector that produces a secreted version of<br />
hASM in the liver, which then was delivered to the<br />
muscles via blood circulation at a level determined<br />
to be efficacious in repairing LGMD2B patient's<br />
injured muscle cells.<br />
14
MD Information<br />
Increased muscle degeneration necessitates<br />
greater muscle regeneration, and we found that<br />
improved repair of dysferlin-deficient myofibers<br />
by hASM-AAV reduces the need for regeneration,<br />
causing a 2-fold decrease in the number of<br />
regenerated myofibers.<br />
These findings are also of interest to patients<br />
with Niemann-Pick disease type A since the preclinical<br />
model for this disease also manifests poor<br />
sarcolemma repair.<br />
Researchers are working to further enhance the<br />
efficacy of this approach and perform a longerterm<br />
safety and efficacy study to enable the clinical<br />
translation of this therapy.<br />
Article available at: https://www.medindia.net/news/new-long-term-approach-for-limb-girdlemuscular-dystrophy-205019-1.htm<br />
15
MD Information<br />
INVESTING<br />
IN GENETIC<br />
TESTING<br />
BY PETER BLACKBURN<br />
I am a 32-year-old male from Cape Town,<br />
South Africa. In 2019 I was diagnosed with<br />
facioscapulohumeral muscular dystrophy (FSHD).<br />
It took me many years to find out what was going<br />
on with my body. I knew something was wrong<br />
from my early 20’s, but I was the ostrich sticking<br />
its head in the sand hoping it would pass. The long<br />
road of seeing specialists began, trying to find<br />
out what was wrong, and it took several years for<br />
doctors to get the diagnosis of FSHD. Since then I have been working extremely hard to improve my<br />
quality of life, even if just by 1%.<br />
When I started doing rehab, I had a pipe dream of doing the Cape Town Cycle Tour (CTCT). I knew it<br />
would take everything I had and that it seemed to be an unrealistic goal. There were a lot of ups and<br />
downs, but I always got back up and pushed forward. Last year, when the event was allowed to go<br />
ahead, I had a last-minute entry and thoroughly enjoyed the ride and was extremely proud and happy<br />
to finish.<br />
This year while training for my second CTCT, I thought it would be a great opportunity to do fundraising<br />
at the same time. So this year I have teamed up with the Muscular Dystrophy Foundation of South Africa<br />
(<strong>MDF</strong>SA). We have decided to raise funds for genetic testing kits for FSHD so other individuals can get<br />
help in confirming their diagnoses.<br />
I am hoping to raise R10 000 towards this great cause, and I would appreciate all possible help so we<br />
can reach this goal!<br />
Many thanks from the bottom of my heart.<br />
Peter finished the CTCT in 3 hours on 13 March <strong>2022</strong>. He raised a total amount of<br />
R20 432.00. This will enable 40 individuals diagnosed with FSHD to confirm their<br />
diagnosis genetically.<br />
Peter, we applaud you for your effort and kind donation!<br />
-ED<br />
16
PEOPLE<br />
KEVIN’S<br />
STORY<br />
By Centers for Disease<br />
Control and Prevention<br />
thinking long term without making it sound like I<br />
was thinking long term.”<br />
“Stairs were tough, but I could do them. Then I<br />
decided to use the cane, and then the crutch. I<br />
had six trips to the ER during the first two and a<br />
half months of the year, all from falls. My doctor<br />
said next time it would be a broken hip, and I’d<br />
be in the hospital for months. That’s when I got<br />
the wheelchair. Now I can do so much more.”<br />
Kevin was 28 when he was diagnosed with has<br />
facioscapulohumeral muscular dystrophy, or<br />
FSHD. “I don’t want my identity to be my muscular<br />
dystrophy. I don’t want people to think I sit at<br />
home and can’t do anything. I don’t ever want to<br />
have a day where I don’t have lots to do.”<br />
Leading an active life with muscular dystrophy has<br />
its challenges, but Kevin takes them all in stride.<br />
There was the frustration this former distance<br />
swimmer and three-time Junior Olympian felt<br />
when he couldn’t swim 25 yards. And the time he<br />
was headed to a black tie dinner only to cancel<br />
his plans when he learned that one of the two<br />
wheelchair cabs in town was broken. “That was<br />
a real ah-ha moment. I don’t want to be in that<br />
position again…the position of not being able to<br />
do something because of my limited mobility.”<br />
Kevin was living in Washington, DC when he was<br />
diagnosed with FSHD. As the muscle inflammation,<br />
wasting, and loss of balance got worse, his doctor<br />
suggested he move someplace warmer that had<br />
FSHD specialists. Kevin chose Atlanta. “I took a big<br />
pay cut. I was looking for a less stressful job with<br />
really good insurance. My new company offered<br />
long term disability insurance from day one. I was<br />
Earlier this year Kevin decided to go on disability.<br />
Volunteer work keeps him busy, and his physical<br />
and mental health has improved. He works with<br />
the Humane Society and helps lead a fundraiser<br />
supporting AIDS vaccine development. He’s<br />
registering to be a citizen lobbyist during the<br />
next Georgia legislative session. Kevin also<br />
has an idea to help others with FSHD. “We need<br />
something to help people when they’re first<br />
diagnosed. New patients ask the same questions.<br />
It’s overwhelming to learn you have a disease you<br />
can’t even pronounce. Social media is helping<br />
connect patients and break down the isolation<br />
faced by many with FSHD.”<br />
As Kevin enters his second decade living with<br />
muscular dystrophy, he laughs that he turned 40<br />
and got a minivan in the same month. “I don’t<br />
think that’s how your midlife crisis is supposed<br />
to go.” When asked if he thinks about the next ten<br />
years, he says “I can’t go there. I can’t stress about<br />
the things I can’t control. Today my life is great.”<br />
Article available at: https://www.cdc.gov/ncbddd/<br />
musculardystrophy/stories.html<br />
17
PEOPLE<br />
Life at the Intersection of Disability<br />
and LGBTQ<br />
By Elizabeth Millard<br />
MDA, February 14, <strong>2022</strong><br />
when being LGBTQ intersects with disability.<br />
Adding more barriers<br />
When Elisa Ramos, a 28-year-old Central Valley,<br />
California, resident with myasthenia gravis (MG),<br />
walks into a restaurant with her partner, she’s<br />
keenly aware of the looks.<br />
“I already face discrimination and displacement<br />
because of my disability,” she says. “My scars,<br />
medical equipment, and dragging feet get<br />
attention, and being with a female partner<br />
amplifies that.” Planning around her mobility<br />
needs and medication side effects has long been<br />
a part of her life. Now, she must consider whether<br />
she’ll be in a safe space as a bisexual woman.<br />
Elisa is far from alone. Although LGBTQ acceptance<br />
has been making strides in recent years — a survey<br />
by advocacy group GLAAD found that non-LGBTQ<br />
Americans are becoming more knowledgeable<br />
about the community — the organization reports<br />
that there’s still ample room for improvement.<br />
As Elisa and many others with neuromuscular<br />
diseases have found, that’s even more pronounced<br />
For Texas resident Rodrigo Duran, 30, an MDA<br />
Ambassador, the difficulties with the intersection<br />
started early. Already bullied as a child because<br />
his congenital muscular dystrophy (CMD) affected<br />
his balance and walking, the negative attention<br />
intensified when he came out as gay at 14.<br />
“We all want to be accepted and treated as an<br />
equal, and for me, coming out pushed that further<br />
away,” he recalls. In college, he found it difficult<br />
to fit into the LGBTQ scene because many in the<br />
gay male community were so focused on physical<br />
appearance that his disability left him feeling<br />
shunned, he says. “It felt like one more step back<br />
instead of forward,” Rodrigo says.<br />
Another challenge is that there isn’t much<br />
conversation around disability and sexuality, adds
PEOPLE<br />
33-year-old Emily Lund, PhD, assistant professor<br />
of rehabilitation counseling and counselor<br />
education at the University of Alabama, who<br />
identifies as nonbinary, asexual, and lesbian, and<br />
also lives with cerebral palsy.<br />
intersectionality of disability and being LGBTQ,<br />
being part of the latter community brings an<br />
additional level of support for some people.<br />
“The LGBTQ community is magical, welcoming,<br />
and undeniably embracing,” Elisa says of her<br />
experience. “Everyone celebrates their differences<br />
and all that they are, which has helped me be more<br />
kind to myself and my disabilities. Also, because<br />
the community is so inclusive, I feel like I’ve never<br />
been in a position where I felt ashamed of who I<br />
am or needed to explain myself.”<br />
Although Rodrigo’s initial experience with the<br />
community wasn’t magical, he eventually found<br />
a group that made him feel safe and welcomed.<br />
Now, he feels accepted by the LGBTQ community<br />
and has a partner. He believes that the change<br />
came because he showed more confidence and<br />
self-appreciation.<br />
“I honestly believe I broke a barrier by showing<br />
that I live with CMD and don’t care what others<br />
think about me,” he says. By embracing his<br />
disabilities, including the way he walks and his<br />
epilepsy, he drew more people toward him who<br />
showed kindness and embraced him for who he is.<br />
“There tends to be discomfort around the idea of<br />
disabled people as anything other than children,”<br />
says Dr. Lund. “We are not considered as sexual<br />
or romantic beings, and even when that happens,<br />
there’s an assumption that all disabled people<br />
are heterosexual. There needs to be much more<br />
awareness and conversation around relationships<br />
in general, with understanding about queer<br />
issues.”<br />
Within the LGBTQ community, though, Dr. Lund has<br />
seen more awareness of disability and willingness<br />
to interact with people with disabilities with less<br />
awkwardness. She believes this comes from an<br />
appreciation of how it feels to be marginalized.<br />
Support system<br />
Despite the challenges of navigating the<br />
“In both the disability and LGBTQ communities,<br />
my advice is to find the people who make you feel<br />
like you belong,” Rodrigo says.<br />
Navigating the Intersection<br />
Check out these resources to learn more about<br />
living at the intersection of having a disability and<br />
being LGBTQ:<br />
• RespectAbility: LGBTQ+ People with Disabilities<br />
• GLAAD: LGBTQ Resource List<br />
• The Trevor Project<br />
• “Special” on Netflix<br />
Article available at: https://strongly.mda.org/life-at-the-intersection-of-disability-andlgbtq/<br />
The Muscular Dystrophy Foundation of SA<br />
would like to thank the National Lotteries<br />
Commission for their support.<br />
19
PEOPLE<br />
"Nothing I wouldn't do": This dad is climbing<br />
Mount Everest to raise awareness and money<br />
for his son's condition<br />
Fulcrum Plans Phase 3 Trial of Potential 1st Oral Therapy for<br />
FSHD<br />
Genetic treatment plus exercise reverses fatigue in mice with<br />
muscle wasting disease<br />
By Patricia Inacio, PhD<br />
Muscular Dystrophy News Today, March 8, <strong>2022</strong><br />
"This is a big physical feat for me, but I draw<br />
motivation from the fact that every time my son<br />
even tries to walk or move or do anything a normal<br />
little kid would do, he's expending tremendous<br />
effort," Doeden told CBS News. "So, for me, it's<br />
easy to work hard I guess."<br />
Connor Doeden, now 4, was was diagnosed with<br />
Duchenne muscular dystrophy when he was two<br />
years old.<br />
Connor was was [sic] diagnosed with Duchenne<br />
muscular dystrophy when he was 2 years old.<br />
"Duchenne is disorder that causes muscle wasting<br />
of every muscle in the human body," Doeden said.<br />
"And it's ultimately fatal. There is no cure ... and<br />
we are trying to change that."<br />
In people with Duchenne, the dystrophin protein<br />
that is needed for muscles to function properly, is<br />
missing or found in very small amounts. Duchenne<br />
primarily affects boys and men, with 1 in 3,500<br />
to 5,000 boys born worldwide having Duchenne,<br />
and by the time they become teens, their life<br />
expectancy is severely reduced.<br />
Dillon Doeden is a self-proclaimed non-athlete –<br />
and yet, he's embarking on one of the toughest<br />
physical feats, climbing Mount Everest. The dad<br />
from Omaha, Nebraska, is motivated by someone<br />
special: his 4-year-old son, Connor, who has a<br />
from [sic] of muscular dystrophy called Duchenne.<br />
The disease is rare, but Connor is not alone.<br />
Doeden met a fellow dad on Facebook, who has<br />
a son with Duchenne. Jim Raffone also runs JAR<br />
of Hope, a charity to bring awareness and raise<br />
money for Duchenne research.<br />
"[Raffone] said, 'Hey, we're going to do this big<br />
fundraiser, we're going to climb Everest and help<br />
try and fund a clinical trial for Duchenne. You<br />
might be my kind of crazy. Are you in?'" Doeden<br />
said. He asked his wife what she thought and she<br />
told him he should absolutely go.<br />
20
PEOPLE<br />
"I am so grateful another dad in the Duchenne<br />
community is coming on the Climb For The Cure,"<br />
Raffone said in a statement to CBS News. "We need<br />
to work together to make Duchenne a household<br />
name."<br />
That's why they're planning to climb Everest – the<br />
world's tallest mountain.<br />
"I've gotten some people questioning, 'Well, why<br />
are you going to Everest? Why are you going<br />
halfway around the world to do this, can't you<br />
do something locally?' And I guess the answer is<br />
that I would do anything for my son and we chose<br />
Everest because, well, quite frankly, it merits some<br />
attention," Doeden said.<br />
Dillon Doeden said his wife told him he should<br />
absolutely do the Mount Everest hike.<br />
Raffone, Doeden and two other men will start their<br />
trek in <strong>April</strong>. Their fundraising goal is $95,000,<br />
but the clinical trial Raffone hopes to fund costs<br />
$750,000.<br />
Doeden said he's been training for the climb<br />
– which is 80 miles round trip – and he feels<br />
confident he can do it.<br />
For Doeden, the difficulty is worth it – because<br />
of his son. "This isn't necessarily something I<br />
would've done on my own. But because we're<br />
doing it to help my son and others dealing with<br />
Duchenne, it's easy to stay motivated in my book.<br />
Like, there's nothing I wouldn't do," he said.<br />
Article available at: https://www.cbsnews.com/news/dillon-doeden-mount-everestduchenne-muscular-dystrophy/<br />
The Muscular Dystrophy Foundation of SA<br />
would like to thank the National Lotteries<br />
Commission for their support.<br />
Shout-out to Separations for their kind donation.<br />
Your support is highly appreciated.<br />
21
PEOPLE<br />
Life-Saving PJ’s Protocol Was<br />
Inspired by a Person With DMD<br />
By Claire Sykes<br />
MDA, February 16, <strong>2022</strong><br />
At Daytona International Speedway, if you see<br />
a silver wheelchair-accessible minivan flash by<br />
outside the stadium, it’s shuttling people who<br />
need assistance getting around the expansive<br />
venue. Philip James “PJ” Nicholoff would be happy<br />
knowing that his family donated his beloved van<br />
to the speedway, and its back windows display<br />
signage honoring him.<br />
A big NASCAR fan, PJ lived with Duchenne muscular<br />
dystrophy (DMD) for 31 years. He may no longer<br />
be driving that van, but his father, Brian, proudly<br />
proclaims that “PJ drives on” with the medical-care<br />
guidelines he inspired: the PJ Nicholoff Steroid<br />
Protocol.<br />
The guide that saves lives<br />
Long-term corticosteroid treatment, which is<br />
common for DMD and Becker muscular dystrophy<br />
(BMD), leads to adrenal suppression, meaning the<br />
body is unable to produce enough cortisol on its<br />
own. In this case, rapid reduction or withdrawal<br />
of corticosteroids can lead to life-threatening<br />
complications.<br />
corticosteroids, and how to taper those extra<br />
doses off to avoid dangerous withdrawal.<br />
Whether the protocol is in a medical facility’s<br />
care guidelines, the hands of a parent arriving<br />
with their child at the ER, or a patient’s electronic<br />
health record, it equips families to advocate for<br />
proper care for their loved one. It also aims to<br />
ensure that no one else goes through what PJ and<br />
his family did.<br />
A treasured life<br />
First diagnosed with DMD at age 4, PJ started a<br />
corticosteroid two years later and was on it for<br />
the next 25 years. “It delayed the progression<br />
of the disease for several years. But, eventually,<br />
he experienced common adverse side effects<br />
of weight gain, cataracts, kidney stones, and<br />
mood swings,” Brian says. “The biggest one is<br />
osteoporosis. During PJ’s teenage years, before<br />
using a wheelchair, he broke his femur, hips, and<br />
ankles in falls. Each one took him down a little<br />
more, and then he could no longer walk.”<br />
The six-page PJ’s Protocol, as it’s commonly<br />
called, outlines procedures that healthcare<br />
providers should follow for patients who depend<br />
on corticosteroids. It explains how to safely<br />
manage corticosteroid treatment for them in<br />
emergency situations. It also points out the signs<br />
and symptoms of acute adrenal crisis (when<br />
cortisol plunges to life-threatening levels), how<br />
to prevent this by giving stress (extra) doses of<br />
22
PEOPLE<br />
In 2013, while the family was in Florida, PJ fell<br />
from his wheelchair trying to make it to the bed.<br />
“I saw that his legs were crossed underneath him<br />
and that he had fractured his hip and also his<br />
humerus,” Brian recalls.<br />
They wanted PJ to be closer to their home in<br />
Indianapolis, so he was flown to a hospital there for<br />
emergency orthopedic surgery. It was successful.<br />
Soon after, though, his lungs filled with fluid, his<br />
heart raced at over 100 beats per minute, and his<br />
blood pressure plummeted. Six days later, he died.<br />
“We’ll never know for sure what happened,” says<br />
Brian. “On the day of PJ’s surgery, he was given<br />
the correct dose of steroids. But a review of his<br />
medical records three months later showed that<br />
afterward, while he was hospitalized, he didn’t<br />
receive the necessary stress doses of steroids for<br />
some reason. This, along with other causes, may<br />
have contributed to his death.”<br />
incorporated into DMD critical-care guidelines in<br />
the UK, Australia, Italy, and South America.<br />
What you can do<br />
PJ’s Protocol is accepted in the neuromuscular<br />
medicine community, and awareness of it is only<br />
growing. However, many healthcare providers<br />
in ERs and intensive care units may not know<br />
about it, since they often lack expertise in rare<br />
diseases, such as DMD and BMD. Individuals who<br />
are corticosteroid-dependent and their families<br />
should be prepared to advocate for themselves.<br />
Fueled by love<br />
The Nicholoff family — Brian, his wife, Barbara,<br />
and their son Justin, now 34, who has a mild form<br />
of DMD — decided to use their experience to help<br />
others who are vulnerable in emergency situations<br />
because of their corticosteroid treatment, like PJ<br />
was.<br />
Larry W. Markham, MD<br />
Barbara, Brian, Justin, and PJ Nicholoff (clockwise)<br />
Along with PJ’s primary physician, his family<br />
worked with the hospital where PJ had his surgery<br />
and with Parent Project Muscular Dystrophy<br />
(PPMD), assembling a group of neuromuscular<br />
disease experts to write and review PJ’s Protocol.<br />
It took 15 months.<br />
When the protocol was released in 2015, word<br />
quickly spread on Facebook sites for PJ’s Protocol<br />
and the Jett Foundation, and on the MDA and<br />
PPMD websites. Articles about it landed on the<br />
pages of peer-reviewed medical journals. Brian<br />
also met with chief medical officers, and others<br />
at nursing and pharmacy organizations, and he<br />
spoke at conferences and webinars. PJ’s Protocol<br />
has reached beyond the United States and is<br />
“A patient or family member can show PJ’s Protocol<br />
and say, ‘it’s in the medical literature, it’s been<br />
published, and it carries the stamp of approval<br />
from these organizations — and it pertains to my<br />
child in this setting,’” says Larry W. Markham, MD,<br />
a pediatric cardiologist at the MDA Care Center<br />
at Riley Hospital for Children in Indianapolis who<br />
has been involved in the multidisciplinary care of<br />
muscular dystrophy patients since 2001.<br />
Here are four ways you can educate others about<br />
the PJ Nicholoff Steroid Protocol:<br />
1. Share the full protocol with your medical<br />
providers.<br />
2. Ask your medical institution if the protocol is<br />
part of their care guidelines. If not, advocate for<br />
it to be added.<br />
3. Print out MDA’s wallet-sized DMD Emergency<br />
Room Alert Card, and keep it with your health<br />
insurance card.<br />
4. Order PPMD’s weatherproof DMD Emergency<br />
Information Card to hang from a wheelchair or<br />
backpack.<br />
23
PEOPLE<br />
Advocacy makes a difference<br />
While MDA and many other organizations publicize<br />
the protocol and champion patient advocacy,<br />
medical advances in neuromuscular disease<br />
continue to charge ahead.<br />
Dr. Markham has noticed that more patients and<br />
families are becoming involved with foundations<br />
and organizations to drive clinical care and<br />
research forward. “Patient advocacy has led to<br />
increased focus on proactive care for all DMD<br />
patients,” he says.<br />
In addition, patients and their families are<br />
supporting research through funding or advocating<br />
for new areas of scientific inquiry. “Collectively,<br />
they’re making the case to industry, saying, ‘You<br />
can make progress here,’” he says. “There are any<br />
number of clinical trials of DMD drugs up for FDA<br />
approval, the biggest area of Duchenne research<br />
being gene therapy. That’s the result of advocacy.”<br />
This gives the Nicholoff family hope in the face of<br />
their hurt. “When you lose your child so young, you<br />
never really bury them, but you learn to live with<br />
it.” Brian says. “Not a day passes that I don’t think<br />
of or do something about PJ’s Protocol, because I<br />
know it’s helping people. And PJ lives on because<br />
of that. That’s what makes me smile when I think<br />
of my son.”<br />
Article available at: https://strongly.mda.org/life-saving-pjs-protocol-was-inspiredby-a-person-with-dmd/<br />
Finally, a Compact Life-Support Ventilator<br />
To meet the needs connected to a wide range of respiratory<br />
conditions, a ventilator must offer outstanding clinical<br />
versatility and performance. However, just as importantly,<br />
it must be designed around the patient’s life, activities and<br />
home environment. That’s why we’ve created Vivo 45 LS<br />
– a life support ventilator for adult and paediatric patients<br />
from 5 kg.<br />
The Vivo 45 LS is designed to maximize independence<br />
and mobility. That’s what we mean by “Designed For EveryDay<br />
Life”. Same ventilator through life The Vivo 45 LS<br />
is adjustable for the patient’s needs, and can adapt as<br />
those needs change. This means that a patient can stay<br />
with one device throughout any disease progression, for<br />
non-invasive or invasive treatment, and up to the point of<br />
ventilator dependency.<br />
Find more on Respiratory &<br />
Ventilation Channels Medical<br />
Group<br />
24<br />
Or call us on 086 111 4028
Doctor’s Column<br />
Prof Amanda Krause, MBBCh, PhD MB BCh, Medical Geneticist/Associate.<br />
Professor. Head: Division of Human Genetics. National Health Laboratory<br />
Service (NHLS) & The University of the Witwatersrand.<br />
Please e-mail your questions about genetic counselling to gmnational@<br />
mdsa.org.za<br />
What makes SMA genetics unique? What<br />
is the SMN2 gene?<br />
Spinal muscular atrophy (SMA) is one of many diseases that causes muscle weakness, typically in early<br />
childhood. It is one of the most common genetic (inherited) neuromuscular diseases affecting 1/8 000 to<br />
1/10 000 individuals.<br />
Spinal muscular atrophy is caused by the loss of specialized nerve cells, called motor neurons, that control<br />
muscle movement. Once these nerves die, the muscles become weak and atrophy (when muscles get smaller).<br />
SMA can affect a child's ability to crawl, walk, sit up, and control head movements. Severe SMA can damage<br />
the muscles used for breathing and swallowing. Although most individuals with SMA present in infancy, the<br />
disease can also present in adulthood for the first time. SMA is caused by genetic faults in a gene called SMN1<br />
(survival motor neuron 1).<br />
Spinal muscular atrophy is inherited in what is termed an autosomal recessive pattern of inheritance. This<br />
means that affected individuals have two faulty (missing) SMN1 gene copies, generally one inherited from<br />
each parent. Parents are not affected with SMA as their other SMN1 gene copy functions normally, but they are<br />
so-called carriers. When two carriers have children, each child has a ¼ or 25% of being affected, a ½ or 50%<br />
chance of being a carrier, and a ¼ or 25% chance of being unaffected. The chance for each child to be affected<br />
is independent.<br />
Almost all individuals who have SMA have the identical genetic fault – both copies of the SMN1 gene are<br />
deleted (missing). It is not clear why there is then such variability in the age of onset. One partial explanation<br />
for the variability is that all individuals have another nearly identical gene to SMN1 called SMN2. This gene<br />
is not critical for nerve cell survival but may be present in variable copy number in different individuals. As<br />
a broad principle, individuals with more SMN2 gene copies (2 or 3) have milder disease than people with<br />
fewer SMN2 gene copies (1 or 2 gene copies). This is because the SMN2 gene can partially compensate for the<br />
absence of SMN1 (although not entirely).<br />
Importantly, one of the new therapies available for SMA, nusinersen (Spinraza) is designed to cause the SMN2<br />
genes to produce more of the missing SMN1 protein and thus make the disease less severe. The more SMN2<br />
genes an individual has, the better the drug works. The number of SMN2 genes can be tested.<br />
There have been some important and exciting recent new developments in the treatment of SMA. There are<br />
at least three new drugs to treat SMA: nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma)<br />
and risdiplam (Evrysdi). All are forms of gene therapy and are being shown to have very positive outcomes,<br />
especially when initiated early in the disease. Unfortunately they are all very expensive, and thus availability<br />
and accessibility remain challenging.<br />
Do all forms of muscular dystrophy begin in childhood?<br />
Muscular dystrophy is not a single disease but rather a group of conditions caused by faults in many hundreds<br />
of different genes. Muscular dystrophies may vary dramatically in severity, age of onset and prognosis. A person<br />
with muscular dystrophy typically has faults in one gene. The exact faults may vary in different individuals,<br />
even within the same gene. In severe forms, symptoms may be present at birth or even in utero. In other forms,<br />
individuals may present with disease only in adulthood.<br />
25
TRAVEL<br />
SAFARI TENT LIVING ... Part 2<br />
In the previous edition of this magazine I<br />
introduced you to the concept of "safari tent<br />
living", and more specifically a review of the<br />
Grootkolk experience. Now I look at our second<br />
example of this type of accommodation inside<br />
a SANParks national park, namely the Kalahari<br />
Tented Camp, in the Kgalagadi Transfrontier Park.<br />
This wilderness camp, consisting of only 15 tents,<br />
lies just south of Mata Mata and is perched on<br />
the edge of an escarpment overlooking the broad,<br />
deep, dry Auob river bed.<br />
As with all of the unfenced wilderness camps,<br />
there is a permanent ranger on duty not only to<br />
manage the campsite and see to your general<br />
well-being, but also to ensure that everyone is<br />
safe. The tents consist of a permanent canvas<br />
structure for the sleeping quarters and bathroom,<br />
together with an adjoining solid wall kitchen unit,<br />
connected via an open veranda. The area for your<br />
car is covered and fenced to provide an element<br />
of safety from lions and hyenas when entering or<br />
exiting your vehicle.<br />
The design of the camp is such that each safari<br />
tent has a high degree of privacy, with your<br />
neighbour’s tent being visible only from your<br />
veranda. It is extremely quiet and peaceful, with<br />
very little human traffic and almost no vehicle<br />
noise or activity. If you are looking to get far from<br />
the maddening crowd for a real escape into the<br />
bush, then look no further.<br />
By Hilton Purvis<br />
The view is spectacular, with the morning light reflecting off the far "riverbank" and the evening sunsets<br />
casting a beautiful light onto the escarpment. You can experience animal encounters and sightings<br />
at any time of day. From our veranda we watched giraffe stride gracefully down the river bed in the<br />
morning, saw wildebeest and springbok grazing peacefully during the day, a cheetah drinking from the<br />
nearby waterhole in the afternoon, and jackals hunting doves at the same waterhole in the evening.<br />
The design of the tent is such that there is an element of safety whilst sitting on the veranda since<br />
you are slightly elevated from the surrounding landscape. You do need to be sensible and vigilant,<br />
however, particularly in the evening when preparing food. There are no fences. One evening we were<br />
26
TRAVEL<br />
visited by four black-backed jackals interested in our presence and the possibility of scoring a free meal.<br />
They never posed a problem or threat, but we kept a close eye on them and ensured that there were no<br />
temptations on offer which might cause the quartet to encroach too closely. We enjoyed their company<br />
a great deal, and since they were only a few metres away for nearly an hour, we came to appreciate how<br />
handsome, refined and elegant they were. It goes without saying that in situations such as this you DO<br />
NOT feed the animals!<br />
On our last visit we returned to the camp just before the 7 pm curfew after enjoying an early supper<br />
braai with friends camping in Mata Mata. SANParks quite rightly doesn't want visitors moving around<br />
in the dark in an unfenced wilderness area. Approaching our tent, we found that the campsite had<br />
gained a visiting car guard, one which had no need for tips! Lying right outside the car parking area of<br />
a neighbouring tent was a very sleepy-looking lioness. Obviously that was the most comfortable spot<br />
for her, and fortunately for us we were able to sneak by and reach our own accommodation safely. She<br />
was in fact one of two lionesses sleeping in the camp that night, with the other being the mother of two<br />
new cubs secreted in the bushes nearby. The following day, spooked by the proximity of an adult male<br />
lion, the two girls moved the cubs to a safer location. You can only enjoy these sorts of experiences in<br />
a wilderness camp!<br />
The larger, fenced camp of Mata Mata is just a few kilometres down the road and offers visitors the<br />
opportunity to refuel their motor vehicles and to refuel themselves at the small convenience store. Basic<br />
food items are available as well as the important items of drinking water and braai supplies. Mata Mata<br />
also functions as a border post between Namibia and South Africa.<br />
All of the safari tents have solar power for lighting purposes and use gas for cooking and refrigeration.<br />
The local water is not potable and can be used only for washing purposes. All drinking water has to be<br />
carried in by you; hence the possible convenience of nearby Mata Mata. The entire safari tent area is on<br />
one level, with the parking space consisting of hard, compacted gravel, and the accommodation area<br />
having a mixture of concrete and wood flooring.<br />
he tent’s en suite bathroom is wheelchair accessible, with limitations. It is small, with only frontal access<br />
to be toilet and narrow side access to the shower. There are grab rails in all the usual places, and the<br />
handbasin is at a suitable height for wheelchair access. These might be issues if you are permanently<br />
confined to a wheelchair, but if you are able to stand, take a couple of steps, or have assistance they<br />
would not be a problem. Something which we have tried recently and found to be really successful has<br />
been to purchase a couple of rubber car footwell mats (from MIDAS) and place them strategically in the<br />
bathroom where good traction is required. They travel in the car, in the footwell, so they don't take up<br />
any space, and they can help to make slippery bathroom floors far more manageable.<br />
Keep safe!<br />
27
LOCKDOWN SAVIOUR<br />
Nearly 10 years ago I managed to accidentally<br />
break my leg, and whilst recovering in hospital a<br />
good friend gave me an iPod containing a number<br />
of audiobooks to help pass the time. The iPod<br />
lasted another five years and then gave up the<br />
ghost, which apparently they all tend to do at that<br />
age. I had developed quite a liking for the little<br />
MP3 player and the opportunity that it afforded<br />
me to enjoy not only the audiobooks but also my<br />
digital music collection. I replaced it with a little<br />
unit made by the memory card company SanDisk,<br />
quite a funky little neon green replacement called<br />
a ClipSport, which neither clips nor does any sport<br />
but is still going strong! Who would have thought<br />
then how valuable this little item would prove to<br />
be with the onset of COVID-19 and the limitations<br />
placed on our movements and activities.<br />
Audiobooks have proved to be something of a<br />
godsend for someone with my level of disability.<br />
The closures of our public libraries forced my<br />
wife, Loretta, to turn to her computer tablet as a<br />
substitute and develop her collection of ebooks.<br />
These have kept her busy, interested and occupied<br />
along with other unexpected occupations such<br />
as the completion of puzzles (who would have<br />
thought they would make such a comeback in<br />
the 21st century?), bee keeping, and replacing<br />
the endless stream of electrical appliances which<br />
Eskom seems hell-bent on trying to break!<br />
Audiobooks are a little more challenging to source,<br />
especially on a limited budget. There are a number<br />
of paid-for sites, including the likes of Audible,<br />
Google Audiobooks, Scribd, Kobo Audiobooks and<br />
Downpour, to name but a few. Free audiobooks<br />
can be found at sites such as Spotify, LibriVox,<br />
Lit2Go, BBC Sounds and Open Culture. There are<br />
many more. Google is your friend.<br />
Following the dictum of "nothing for nothing",<br />
there is a reason why some books are available<br />
free. In the last 10 years I have come to experience<br />
two discernible changes in audiobooks, firstly that<br />
the quality of narration has improved noticeably,<br />
and secondly that the free or cheaper repository<br />
sites tend to stock books that are either older or<br />
have narration which is not up to scratch. I find<br />
that an audiobook lives or dies depending on<br />
the voice of the narrator. A poor story can still<br />
be worth listening to if the narration is suitably<br />
interesting and involving. Likewise a good story<br />
can be completely ruined by a narrator with a<br />
weak or thin voice tone.<br />
Voice quality rests on three main pillars: the tone,<br />
the pitch and the speed. If these are well-paced<br />
you will find yourself being able to listen to the<br />
narrator for hours without any effort or fatigue.<br />
I even find myself regretting to have to pause<br />
books in order to get on with some other business<br />
at hand. The narrator holds my interest and keeps<br />
me wanting to hear the next chapter. Unfortunately<br />
I have a number of other books whose content I<br />
dearly wish to listen to because the subject matter<br />
interests me greatly, but the narration is at a poor<br />
pitch and tone, leaving me irritated after only 10<br />
or 15 minutes of listening. Really frustrating!<br />
I have found that it does not matter whether the<br />
narrator is male or female, old or young. I have<br />
listened to a number of books about war and<br />
conflict, subjects which you would not necessarily<br />
associate with a woman's voice, yet the female<br />
narrator has done an excellent job of conveying<br />
the story. I have also tried a couple of books<br />
which have made use of multiple narrators. The<br />
idea sounds good, with male and female voices<br />
for male and female characters respectively, but<br />
somehow it doesn't quite work as easily as that.<br />
I have found multiple voices to be distracting ‒<br />
28
not quite sure why that is. A single, quality voice<br />
seems to be the key, regardless of the sex of the<br />
characters in the book.<br />
In the same vein the narrator does not necessarily<br />
have to adopt an accent in order to lend any<br />
credibility to their characters. If the book is<br />
about the American space programme, the<br />
narrator does not need to have an American<br />
accent to be believable. Sometimes it can lend<br />
a fresh experience to a book, such as the one I<br />
am listening to at the moment covering the drug<br />
wars in Colombia. This audiobook, narrated by a<br />
Spanish woman, proceeds at a really nice pace,<br />
and her accent and ability to correctly pronounce<br />
the characters and place names adds something<br />
extra to the story. The accent however is not<br />
crucial, but the quality of the voice is. I don't mind<br />
a little variation here and there; you don't want<br />
all of the books to sound the same. That is part<br />
of the problem with the early audiobooks. They<br />
all tend to sound very mechanical and monotone,<br />
which does not make for an involving experience.<br />
There is no doubt that the more recent books are<br />
making use of professional narrators, or possibly<br />
out-of-work actors!<br />
Something which I am experimenting with on<br />
the side is investigating the possible translation<br />
of ebooks into audiobooks. There are a lot more<br />
ebooks available, so if you can find a suitable digital<br />
"translator" program or app, the choice of listening<br />
material becomes a lot wider. The problem I am<br />
encountering is the same one I mentioned earlier<br />
in this article, namely that the paid-for programs<br />
seem to be able to produce listenable narration,<br />
but the free software produces very mechanical<br />
voices which are horrible to listen to. This is an<br />
ongoing quest. If you have any good suggestions<br />
or recommendations, please let me know.<br />
Until then, happy listening, and keep safe!<br />
29
Random gravity<br />
checks<br />
By Andrew Marshall<br />
A bit of a delicate topic<br />
For years now I have had a few problems with<br />
managing my waterworks, owing in part to the<br />
logistics of getting my bottle into my pants with<br />
the required urgency and precision, and in part<br />
to general deterioration of muscles over time. I’m<br />
sure many of you can relate to this. As the years<br />
have gone by my bladder has given me more and<br />
more uphill. I’ll be going about my day as normal<br />
and then feel that I have the biggest pee ever on<br />
board and that if I don’t open the sluice gates<br />
NOW my bladder will explode and I’ll be swimming<br />
home so to speak. In the last few years I’ve had<br />
to call more often for help with getting my bottle<br />
into my pants and have struggled more to restrain<br />
my urine, with different degrees of success. If I<br />
don’t succeed, well, let’s just say this really pisses<br />
me off.<br />
This probably goes without saying, but the<br />
problem depends on how much I drink and what<br />
it is that I drink. For example, coffee goes through<br />
my system much faster than just plain water or<br />
fruit juice. And then my favourite guilty pleasure,<br />
beer, makes me pee like a racehorse, which is<br />
completely understandable because it is after all<br />
a diuretic. When I was younger I could handle a<br />
lot more, and not only because I had a lot more<br />
dexterity with the bottle (even if my dexterity<br />
diminished after a few for different reasons). I’m<br />
a bit of a cheap date nowadays (tell your single<br />
girlfriends). If I do wet myself, even if it’s just a<br />
little, I feel terrible, especially when I am out. It<br />
makes me feel like less of a man, like I’m a baby<br />
that can’t even control his bodily functions.<br />
I have seen on a few forums that people with<br />
my brand of muscular dystrophy, Friedreich’s<br />
ataxia, also have these issues, and some of the<br />
older guys and girls use catheters. I won’t lie<br />
to you, I was hugely freaked out by this, at the<br />
same time as thinking I’m not disabled enough<br />
to be using something like that. But I can think<br />
of many occasions when this would be extremely<br />
beneficial and make life so much easier. I have<br />
read many conflicting testimonials, and the most<br />
recommended catheter by far is the Suprapubic<br />
Catheter because it does not go through your<br />
urethra; it goes directly to your bladder through<br />
your stomach, cutting out a lot of infections and<br />
saving my gentleman area from distress. I will find<br />
out more about this option when I go to see a<br />
urologist in a few months’ time. I have also read<br />
that people use medications, and when someone<br />
I knew personally had only good things to say<br />
about it, this pushed me to ask my doc if I could<br />
give them a shot. He prescribed some for me<br />
to try but said if I had further problems in this<br />
department I would need to see a urologist. I had<br />
been taking the meds for about three weeks and<br />
felt I was doing a lot better when I ran into quite<br />
a large obstacle.<br />
I was out for the afternoon and had a beer and a<br />
half, and as I’ve already said, this normally makes<br />
me flow like a waterfall. I knew from experience<br />
that I needed to keep things moving to avoid a<br />
catastrophe. I didn’t feel like I needed to go but<br />
passed a little; it definitely wasn’t my normal<br />
racehorse volume after beer. When I tried to go<br />
again a few hours later, I could feel my bladder was<br />
full but only a few more drops came out. I’d had<br />
30
this happen to me before but normally if I lay down<br />
and tried to relax my tense body I had success. By<br />
the time I came home I was really uncomfortable<br />
and lay on my bed and tried for a couple of hours<br />
to pee into the bottle. By this time I was in pain and<br />
desperate to go. Luckily my Mom, a retired nursing<br />
sister, recognized the condition and started the<br />
catheterization procedure but found her catheter<br />
too old and perished, so we took off at speed for<br />
a private night emergency centre. After two hours<br />
of sitting in a waiting room and nearly passing<br />
out in their toilet, despite Mom begging for me to<br />
be laid flat, she recognized I was in what is called<br />
hyperreflexia, sweating profusely with raised<br />
blood pressure, terrible spasms and pain. We then<br />
decided to take off and go to another hospital but<br />
experienced the same level of no care. Mom finally<br />
went to the emergency pharmacy and bought a<br />
catheter, but they did not have all the necessary<br />
bits and pieces, so she just made do with what she<br />
had and quickly did the procedure when we got<br />
home, after wasting nearly four hours of severe<br />
discomfort. Oh what a relief… it was the biggest<br />
and best pee I have ever had. Thanks Mom.<br />
We are in communication with the hospitals<br />
because this was an emergency and I was stuck in<br />
the waiting room, in the sitting position, behind<br />
someone with a cold and someone who had a<br />
sprained ankle. It was ridiculous. Not everyone<br />
has a carer with medical knowledge, and if they<br />
have urgent problems what happens then? What<br />
has become of our private hospitals?<br />
31
RESEARCH<br />
FULCRUM PLANS PHASE 3<br />
TRIAL OF POTENTIAL 1ST<br />
ORAL THERAPY FOR FSHD<br />
BY PATRICIA INACIO, PHD<br />
MUSCULAR DYSTROPHY NEWS TODAY, MARCH 8, <strong>2022</strong><br />
Fulcrum<br />
Therapeutics<br />
plans to launch a Phase<br />
3 trial of losmapimod, a<br />
potential oral treatment for<br />
facioscapulohumeral muscular<br />
dystrophy (FSHD), by June.<br />
The announcement of the trial,<br />
called REACH, follows clinically<br />
relevant benefits seen in the Phase<br />
2b ReDUX4 trial (NCT04003974)<br />
and consultations with key<br />
regulators, including the U.S.<br />
Food and Drug Administration<br />
(FDA) on the trial’s overall<br />
design.<br />
“Results from the Phase 2b<br />
clinical trial demonstrated that<br />
losmapimod slowed disease<br />
progression and improved<br />
function in people with FSHD,”<br />
Bryan Stuart, Fulcrum’s president<br />
and CEO, said in a press release.<br />
“Based on these data as well as<br />
insights gained from the trial<br />
on optimal measures of disease<br />
progression, we aligned with<br />
regulators, including the FDA,<br />
on key aspects of the design of<br />
the REACH trial. With positive<br />
data, we expect REACH to be the<br />
basis for [regulatory] approval.”<br />
Losmapimod is an oral<br />
medication designed to block<br />
the activity of the proteins p38<br />
alpha and p38 beta. Over 90% of<br />
FSHD patients carry mutations<br />
in the DUX4 gene, causing its<br />
abnormally high activity and,<br />
as a consequence, muscle<br />
degeneration and fat infiltration.<br />
By blocking p38 alpha and<br />
p38 beta, losmapimod aims<br />
to stop this disease-causing<br />
hyperactivity.<br />
In the ReDUX4 trial, 80 adults<br />
with FSHD (mean age of 45.7<br />
years) were randomly assigned<br />
to losmapimod, given twice daily<br />
at 15 mg, or a placebo tablet for<br />
48 weeks.<br />
Although losmapimod failed to<br />
reach the trial’s main efficacy<br />
goal — reduced activity of<br />
the DUX4 gene — it showed<br />
relevant clinical benefits<br />
versus the placebo on multiple<br />
measures of muscle health and<br />
function and patient-reported<br />
outcomes after nearly a year.<br />
These included a reduction in<br />
muscle fat infiltration (MFI) in<br />
affected muscles and reachable<br />
workspace (RWS) — a measure<br />
of the range of motion in the<br />
upper limbs known to correlate<br />
with the ability to independently<br />
conduct daily living activities.<br />
Patients on losmapimod<br />
reported feeling better than<br />
those on the placebo.<br />
32
RESEARCH<br />
“We learned from our Phase 2b<br />
trial that RWS, MFI and patientreported<br />
outcomes are reliable<br />
measures of disease progression<br />
and that we can observe<br />
meaningful differences in these<br />
endpoints [goals] compared to<br />
placebo after just 48 weeks of<br />
treatment with losmapimod,”<br />
said Judith A. Dunn, PhD,<br />
Fulcrum’s president of research<br />
and development.<br />
Moreover, no serious treatmentrelated<br />
adverse effects were<br />
observed.<br />
According to Fulcrum, the failure<br />
to reach the trial’s primary<br />
goal was likely linked to a wide<br />
variation in participants’ starting<br />
levels of DUX4 activity, and to<br />
the needle biopsy approach used<br />
that proved to be too imprecise.<br />
“REACH is optimized to<br />
demonstrate similar statistically<br />
and clinically significant benefits<br />
and represents an important<br />
step in delivering a life-changing<br />
therapy to people with FSHD,”<br />
Dunn added.<br />
The REACH trial expects to enroll<br />
around 230 adults with FSHD.<br />
Participants will be randomly<br />
assigned to losmapimod,<br />
administered orally as a 15 mg<br />
tablet twice a day, or a placebo,<br />
for 48 weeks.<br />
The trial’s main goal is to assess<br />
changes from pre-treatment<br />
(baseline) in reachable<br />
workspace. Secondary goals<br />
include muscle fat infiltration,<br />
patient global impression of<br />
change, and quality of life.<br />
Patient-centered assessments<br />
of healthcare use will also be<br />
included.<br />
“Losmapimod is the first and<br />
only investigational medicine in<br />
clinical development” for FSHD,<br />
said Nicholas Johnson MD, a<br />
professor, division chief of<br />
neuromuscular, and vice chair<br />
of research in the neurology<br />
department at Virginia<br />
Commonwealth University. “The<br />
data to date are very promising,<br />
showing meaningful clinical<br />
benefit and a well-established<br />
safety and tolerability profile.<br />
I look forward to further<br />
investigating losmapimod in the<br />
REACH trial.”<br />
Fulcrum will host a live webcast<br />
on FSHD featuring Johnson<br />
and Jay J. Han, MD, professor<br />
of physical medicine and<br />
rehabilitation at the University<br />
of California, Irvine.<br />
The webcast is scheduled for<br />
March 24, from 10 am to noon<br />
ET and can be accessed here. An<br />
archived replay will be available<br />
on the website for up to 90 days.<br />
plans-phase-3-trial-losmapimod-potential-1st-oral-therapy-fshd/<br />
33
RESEARCH<br />
GENETIC TREATMENT PLUS EXERCISE<br />
REVERSES FATIGUE IN MICE WITH MUSCLE<br />
WASTING DISEASE<br />
BY SCIENCE DAILY, NOVEMBER 30, 2020<br />
Adding exercise to a genetic<br />
treatment for myotonic<br />
dystrophy type 1 (DM1) was<br />
more effective at reversing<br />
fatigue than administering<br />
the treatment alone in a study<br />
using a mouse model of the<br />
disease. In fact, exercise alone<br />
provided some benefit whereas<br />
the genetic treatment alone did<br />
not. This study, carried out by<br />
researchers at the Massachusetts<br />
General Hospital (MGH) and<br />
collaborators, has implications<br />
for patients who experience<br />
fatigue due to genetics-related<br />
musculoskeletal diseases as well<br />
as other types of illness-induced<br />
fatigue. The study appears in<br />
Molecular Therapy ‒ Nucleic<br />
Acids.<br />
"It's encouraging that exercise<br />
makes a noticeable difference on<br />
its own and in combination with<br />
a genetic treatment specifically<br />
tailored for the disease," says<br />
Thurman M. Wheeler, MD, an<br />
investigator in the department of<br />
Neurology at MGH and at Harvard<br />
Medical School. Wheeler was the<br />
senior author of the study.<br />
DM1 is the most common<br />
muscular dystrophy in adults,<br />
and one of several genetic<br />
conditions that cause muscle<br />
wasting and progressive<br />
weakness. Patients with DM1<br />
report that chronic fatigue is<br />
the most debilitating symptom<br />
of their condition, although the<br />
biological underpinning of this<br />
effect is not known. Wheeler and<br />
his colleagues wanted to test the<br />
value of exercise in reversing<br />
this symptom.<br />
The disease is caused by a gainof-function<br />
mutation that leads<br />
to the expression of higher<br />
levels of a genetic element called<br />
an expanded microsatellite CUG<br />
34
RESEARCH<br />
repeat. The researchers used<br />
mice genetically engineered<br />
to carry the same defect and<br />
treated some of them with an<br />
antisense oligonucleotide, which<br />
is essentially a strand of genetic<br />
material that sticks to RNA to<br />
repair specific gene defects.<br />
Then they studied the effects<br />
of exercise on old mice with<br />
the gene defect who received<br />
only the oligonucleotide, some<br />
that were only compelled to<br />
exercise, some that had both the<br />
treatment and exercised, and a<br />
group that received a placebo (a<br />
saline solution). They compared<br />
the post-exercise activity levels<br />
of mice in each of those arms of<br />
the trial. They also measured the<br />
responses of young mice with<br />
the defect who just received the<br />
placebo. The mice's activity was<br />
measured using a special type<br />
of enclosure that records the<br />
mouse's movement.<br />
This study provides preliminary<br />
answers to at least two questions:<br />
How effective should scientists<br />
expect gene therapy for this<br />
disease will be in actual patients?<br />
And could exercise benefit such<br />
patients?<br />
"We were surprised that even<br />
on its own, exercise helped the<br />
mice recover from exertion more<br />
quickly," says Wheeler. "Exercise<br />
plus the antisense treatment<br />
had an even greater effect. But<br />
the antisense alone was of no<br />
measurable benefit."<br />
While it seems like common<br />
sense that exercise would help<br />
patients suffering from muscle<br />
weaknesses, some clinicians and<br />
researchers wondered if it could<br />
also have the opposite effect and<br />
actually hasten patients' decline.<br />
Wheeler and his colleagues'<br />
study suggests that is not the<br />
case and that the effects of<br />
exercise could be beneficial to<br />
these patients and others with<br />
similar conditions.<br />
Wheeler's co-authors included<br />
colleagues at the MGH<br />
Department of Neurology as well<br />
as researchers from Beth Israel<br />
Deaconess Medical Center.<br />
The Elaine and Richard Slye<br />
Fund, Muscular Dystrophy 525<br />
Association and the National<br />
Institutes of Health supported<br />
the work.<br />
Article available at: https://www.sciencedaily.com/ ases/2020/11/201130131451.htm<br />
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35
Healthy Living<br />
SPEECH THERAPY<br />
BY MUSCULAR DYSTROPHY NEWS TODAY<br />
• In facioscapulohumeral muscular dystrophy<br />
(FSHD), those diagnosed in their teens or<br />
early adult years do not generally experience<br />
problems with speech production except for<br />
nasalized speech. However, those with infantile<br />
FSHD have speech problems because of oral<br />
muscle weakness that, in some patients, is<br />
further complicated due to hearing loss. Speech<br />
issues in these patients include problems with<br />
consonant and vowel sounds, difficulties with<br />
inflection, intonation, and the proper spacing<br />
and pauses between words, as well as problems<br />
in producing high-pitched sounds.<br />
• Patients with limb-girdle muscular dystrophy<br />
type 1A (LGMD 1A) also may have isolated<br />
bulbar weakness or weakness in the tongue<br />
and pharynx, which may lead to dysarthria and<br />
dysphagia.<br />
• In oculopharyngeal muscular dystrophy (OPMD),<br />
tongue and pharyngeal weakness can cause<br />
dysarthria and dysphagia.<br />
Muscular dystrophy (MD) refers to a group of<br />
inherited muscle disorders caused by mutations in<br />
genes that generate proteins that play an essential<br />
role in muscle structure and function. The disease<br />
causes progressive weakness and wasting of<br />
muscles in different parts of the body, including<br />
the arms, legs, head, and neck.<br />
In some types of muscular dystrophy, weakness<br />
in the facial and oral muscles that control the<br />
use of the tongue, lips, soft palate, cheeks, and<br />
diaphragm results in problems with speech quality<br />
(dysarthria) and voice quality (dysphonia).<br />
Speech problems by MD type<br />
• In patients with Duchenne muscular dystrophy<br />
(DMD), speech problems may precede muscle<br />
weakness. Some of the speech problems<br />
experienced by patients with DMD include late<br />
onset of speech, problems with finding words,<br />
and non-fluent speech.<br />
• In congenital and childhood myotonic dystrophy<br />
type 1 (DM1), patients have difficulties with<br />
bilabial consonants (consonants made with both<br />
lips like “b,” “m,” and “p”), interdental articulation<br />
(“th”), and hypernasal speech, because of<br />
weakness in the oral and facial muscles. In DM1,<br />
hypotonia (low muscle tone) causes monotony,<br />
hypernasality, hoarseness, shorter stretches of<br />
speech, a slow speech rate, and a decrease in<br />
volume and intelligibility. On the other hand,<br />
myotonia (delayed relaxation of voluntary<br />
muscles) causes irregularities in speech fluency<br />
and articulation.<br />
Speech therapy methods<br />
There are several ways by which speech problems<br />
can be treated under the directions of a speech<br />
therapist. These methods include:<br />
• Exercises to help improve strength and<br />
coordination of the muscles in the throat,<br />
tongue, cheeks, mouth, diaphragm, soft palate,<br />
and lips, for clear and precise articulation and<br />
pronunciation;<br />
36
Healthy Living<br />
• Exercises to strengthen or relax the muscles<br />
that control the palate and the vocal cords to<br />
overcome breathy and hoarse speech;<br />
• Expiratory and inspiratory muscle strength<br />
training that helps to breathe in and out in one<br />
breath and practice to speak with emphasis and<br />
proper flow between breaths;<br />
• Vowel prolongation tasks that improve the<br />
duration and loudness of speech;<br />
• Phonetic placement techniques (e.g., hands-on,<br />
descriptive, pictures) to work on the positioning<br />
of the mouth, tongue, lips, or jaw while speaking;<br />
• Exaggerated articulation to emphasize phonetic<br />
placement and increase precision.<br />
When speech intelligibility or efficiency is reduced,<br />
other communication strategies, including<br />
augmentative and alternative communication can<br />
be used to supplement natural speech. These<br />
include:<br />
• Unaided modes such as manual signs, gestures,<br />
and fingerspelling;<br />
• Voice training in which patients are taught how<br />
to talk slowly and articulate more carefully<br />
and clearly when speaking by exaggerated<br />
articulation, and controlled and modified<br />
breathing;<br />
• Aided methods such as line drawings,<br />
pictures, communication boards, tangible objects,<br />
and speech-generating devices;<br />
• Augmentative supports like voice amplifiers and<br />
artificial phonation devices such as electrolarynx<br />
devices (battery-operated machines that produce<br />
sound), intraoral devices, and oral prosthetics to<br />
reduce hypernasality.<br />
Article available at: https://musculardystrophynews.com/speech-therapy/#:~:text=In%20<br />
some%20types%20of%20muscular,and%20voice%20quality%20(dysphonia).<br />
37
Healthy Living<br />
EYE PROBLEMS IN DIFFERENT TYPES<br />
OF MUSCULAR DYSTROPHIES<br />
BY MARISA WEXLER MS<br />
MUSCULAR DYSTROPHY NEWS TODAY, JANUARY 10, <strong>2022</strong><br />
Oculopharyngeal muscular dystrophy<br />
Oculopharyngeal muscular dystrophy is a form<br />
of muscular dystrophy that primarily affects the<br />
muscles of the eyes and throat. The first symptom<br />
is typically ptosis, when the upper eyelid falls or<br />
droops because of weakened muscles, that affects<br />
both eyes.<br />
This form of muscular dystrophy also can cause<br />
paralysis of the muscles that control eye movement<br />
— a condition known as ophthalmoplegia — and<br />
myopia, or double vision.<br />
Facioscapulohumeral muscular dystrophy<br />
In people with facioscapulohumeral muscular<br />
dystrophy, weakness of facial muscles can make<br />
it difficult to close the eyes completely, referred to<br />
as lagophthalmos. Typically one side of the face is<br />
more severely affected than the other.<br />
Coats’ disease, a condition characterized by<br />
abnormalities in the blood vessels of the eye,<br />
may occur in people with this form of muscular<br />
dystrophy.<br />
Myotonic dystrophy<br />
People with myotonic dystrophy can have ptosis.<br />
Cataracts, a clouding of the eye lens that can<br />
impair vision, also are common among this patient<br />
population.<br />
Myotonic dystrophy patients may experience<br />
blepharitis (inflammation of the eyelids) and<br />
double vision.<br />
Congenital muscular dystrophies<br />
Congenital muscular dystrophies are a group<br />
of conditions that lead to muscle weakness<br />
and wasting from birth or shortly thereafter.<br />
38
Healthy Living<br />
Eye problems are common in several types of<br />
congenital muscular dystrophy.<br />
uscle-eye-brain disease, as the name suggests, is<br />
a form of congenital muscular dystrophy in which<br />
the eyes are one of the main body parts affected.<br />
Uncontrollable eye movements, nearsightedness,<br />
and glaucoma (damage to the nerve that connects<br />
the eyes to the brain) are common in this disease<br />
type.<br />
Many people with Walker-Warburg syndrome<br />
experience problems where the eyes are abnormally<br />
shaped or sized. Glaucoma and cataracts may also<br />
occur.<br />
Those with Fukuyama congenital muscular<br />
dystrophy may experience eye problems such as<br />
strabismus — when the eyes do not align properly<br />
— and cataracts.<br />
Duchenne and Becker muscular<br />
dystrophies<br />
In people with Duchenne or Becker muscular<br />
dystrophies, the eye muscles are rarely affected,<br />
although abnormal electrical activity of the retina<br />
in response to light has been reported.<br />
Limb-girdle muscular dystrophy and Emery-<br />
Dreifuss muscular dystrophy<br />
imb-girdle muscular dystrophy (LGMD) typically<br />
does not affect the muscles that control eye<br />
movement, whereas ptosis has been reported in<br />
patients with Emery-Dreifuss muscular dystrophy.<br />
Management of eye problems<br />
A number of strategies can help to alleviate or<br />
manage eye problems associated with muscular<br />
dystrophies. Simple measures such as using<br />
sunglasses can reduce UV ray exposure, thereby<br />
minimizing eye strain and damage. Regular visits<br />
to an optometrist can help to monitor eye health.<br />
If symptoms are particularly severe, surgeries may<br />
be warranted to help alleviate certain eye problems.<br />
For example, specific surgical procedures can<br />
help to remove cataracts or to provide support<br />
to eye muscles that can help combat ptosis.<br />
Because muscular dystrophy patients often have<br />
other ongoing health problems, any surgery or<br />
anesthesia must be carefully considered because<br />
of the risk of complications.<br />
Article available at: https://musculardystrophynews.com/eye-problems/<br />
39
Gauteng Branch News<br />
Surviving COVID-19 with muscular dystrophy<br />
By Joy Davis<br />
My name is Joy. I am 60 years old and living<br />
with muscular dystrophy. In May 2021 I got<br />
COVID-19, and I was hospitalised for about two<br />
weeks in Milpark Hospital before I recovered.<br />
I had caught the virus when one of my<br />
neighbours passed by near my door. She<br />
greeted me and told me not to come nearer<br />
to her as she had just tested positive for<br />
COVID-19. The lady was not wearing a face<br />
mask and we were not positioned close to one<br />
another.<br />
After I woke up in hospital I couldn’t remember what had caused me to land up there. Later my<br />
husband, Larry, told me that I had passed out, and an ambulance had come and taken me to the<br />
hospital. There I was told that I had COVID-19 and would be treated in hospital. Luckily I had<br />
already had my first jab of vaccine and was just waiting to go and get another one. While in hospital<br />
I was given too many medications, but the good part is that I was never on a ventilator and could<br />
breathe well by myself.<br />
The experience of having the virus and being in hospital was very bad. I’m glad that I made it out.<br />
I would like to encourage those who have not been vaccinated to consider doing so. I strongly<br />
believe that those who are vaccinated stand a good chance of overcoming COVID-19.<br />
It is also important to always follow the rules and regulations for reducing the spread of COVID-19:<br />
wearing your face mask whenever you are in contact with someone, keeping your social distance,<br />
and washing your hands regularly.<br />
I learnt that you don’t really have to be positioned close to someone in order to catch COVID-19.<br />
You can be quite far away from them, but without a face mask anything can happen.<br />
947 Ride Joburg 2021<br />
By Robert Scott<br />
The second-largest timed cycling event in the<br />
world, 947 Ride Joburg 2021, saw 29 cyclists<br />
take on the event in support of the Muscular<br />
Dystrophy Foundation of South Africa, Gauteng<br />
Branch. The team was made up of 19 adults and<br />
10 children.<br />
The road event started and ended for the first<br />
time at the FNB Stadium and had an all-new<br />
route for the Muscle Riders to tackle. Many<br />
obstacles were overcome and the entire team<br />
completed the race and achieved their goals<br />
of supporting those affected with muscular<br />
dystrophy.<br />
Our kids’ team took on the annual kids’ race<br />
event at Steyn City and had an amazing day doing their part and riding for a purpose!<br />
We would like to thank all those who participated and assisted the Foundation in bringing hope to<br />
all of its members. Muscle Riders did it again!<br />
40
Gauteng Branch News<br />
Muscle Riders <strong>2022</strong> – it is time to practise!<br />
By Robert Scott<br />
One of the most valuable fundraising platforms available to charity organizations is the 947 Ride<br />
Joburg cycling event, which takes place every year<br />
in November. Our team, “Muscle Riders”, have<br />
taken part in nine events over the years, and for<br />
<strong>2022</strong> we are going big!<br />
We are proud to announce that this year we<br />
are partnering with an organization called<br />
“The Practice”. This will see some exciting<br />
new additions to the team, such as access to<br />
specialized training programmes free of charge,<br />
and so much more! We will be revealing these<br />
exciting additions in the coming months and<br />
cannot wait to share them with all of you.<br />
Muscle Riders will be taking part in the main<br />
road race, kids’ race and MTB events, so there is something for everyone. This year also sees an<br />
exciting new short ride event of 35 km, so if you are inexperienced or want something a little less<br />
gruelling, this is for you!<br />
Dust off those bicycles, find your helmet and join us for the 947 Ride Joburg <strong>2022</strong> event! For more<br />
information, contact Team Leader, Robert Scott, at mdfgauteng@mdsa.org.za.<br />
<strong>MDF</strong>SA, Gauteng Branch would like to extend a special word of thanks to both the<br />
Kirkness Family Trust and the Setzkorn Family Trust.<br />
Both donors awarded us with generous grants in the first quarter of <strong>2022</strong> and we<br />
could not be more grateful for their continued support!<br />
41
Cape Branch News<br />
My and my brother’s surfing experience at<br />
Muizenberg<br />
By Sanjay Narshi<br />
The last time I had been in the ocean was when I was about 11 years old.<br />
Having muscular dystrophy, I never thought I would ever get the opportunity<br />
to be in the ocean again, until we found out about the Roxy Davis<br />
Foundation.<br />
They fi rst put a wetsuit on you and then put you onto a buggy, which they<br />
roll into the sea, and from there they transfer you onto a surfboard. You can<br />
either lie flat on your tummy or sit up, and your assistant sits and holds you<br />
from behind. The session lasts for 45 minutes, and throughout you have<br />
eight people around you. So you are safe at all times.<br />
What an exciting, exhilarating,<br />
life-changing time we<br />
had. I would highly recommend<br />
trying this out for all<br />
our members ‒ it’s an opportunity<br />
not to be missed, and<br />
it’s there for us, the disabled<br />
community. I can say the<br />
whole team are very experienced<br />
and know what they<br />
doing.<br />
Outing to Green Point<br />
Park<br />
Nine learners from Astra School enjoyed an outing to Green<br />
Point Park on 9 March <strong>2022</strong>. We started the morning off with<br />
muffi ns and fruit, after which the boys explored the park.<br />
It was great to be outdoors in the sunshine again, and we<br />
treated them to lunch from McDonald’s before they headed<br />
back to school.<br />
Adult support group<br />
Our adult support group resumed after a very long break<br />
due to COVID-19. We decided to have a bring-and-share<br />
event and enjoyed delicious eats and fellowship. It was also<br />
a farewell for Mariam Landers, who was a dedicated social<br />
auxiliary worker for nearly fi ve years.<br />
42
It is often said that the two most important days<br />
in an individual’s life are the day that they are<br />
born and the day that they die. I beg to differ<br />
and humbly ask for the reader’s indulgence ‒ in<br />
my opinion the most important days are those<br />
between birth and death. The reality of life is that<br />
with birth comes the certainty of death, but how<br />
we spend our time in between is what determines<br />
the legacy we leave behind. One could<br />
argue that a legacy refers to one’s children, a<br />
monetary value or a business empire. But is<br />
this really what the concept of a legacy should<br />
speak to? Consider for a moment what a different<br />
world we would live in if “legacy” was a<br />
word synonymous with the phrase “making a<br />
difference”.<br />
In Memoriam<br />
What do we leave when we leave?<br />
By Rani Naidoo<br />
This brief write-up speaks of a young lady who could certainly be described as different in a physical sense<br />
but also as different in the sense of what she could do that would make a difference to those around her.<br />
Mohini Marishka Jackson was born to Mano and Rani Naidoo on 31 January 1991. Her early years were<br />
very similar to that of any toddler, but there was always a strong faith in her religious beliefs. She was<br />
diagnosed at a tender age with muscular dystrophy, which was a tremendous blow to her parents, as back<br />
in the early 90’s very little was known of this condition and its effects. The monthly trips to the specialists<br />
became a norm, and eventually Mohini understood the severity of what she would have to endure for the<br />
rest of her life. Despite the odds being stacked against her, Mohini ultimately chose to be a force for social<br />
good and would not let her condition get the better of her. In her early years she and those around her<br />
quickly learnt that she had a passion for music, with singing being her strong point. This became a favorite<br />
pastime for her, and eventually she learnt that it would be another arrow in her quiver on her journey<br />
to making the world a better place.<br />
Always an academic, Mohini went through her primary school years with ease, consistently achieving at<br />
the top of her grade. She thereafter attended the National School of the Arts, and this is where she was<br />
exposed to children of many different backgrounds and ethnic beliefs. There she learnt to embrace people<br />
of different cultures, beliefs and sexual orientations, ultimately understanding that kindness and love are<br />
a universal language shared by all. Having completed her fi nal year at secondary school, she obtained a<br />
full scholarship into university. Her passion for children and the community led her to pursue her studies in<br />
the fi eld of social services at Wits University, and in 2009 she was the recipient of the Golden Key Award<br />
for outstanding achievement in her fi eld. She went on to complete her honours degree and worked for<br />
the Department of Social Welfare, specializing in foster care.<br />
In her teen years, Mohini affiliated herself to a gospel outreach team, a group of teenagers who had a<br />
passion for the community and were consistently involved in upliftment of the community and in spreading<br />
the gospel. This may have been the catalyst that propelled her into her chosen career path. Mohini<br />
had a profound ability to listen without judgement, hearing to understand and to give impartial advice. It<br />
was for this reason that many friends and family members were able to approach her for advice, even<br />
though she was much younger than they, and the younger members of her social circle were also able<br />
to confi de in her without the fear of judgement.<br />
On 25 <strong>April</strong> 2015 Mo and her long-time school sweetheart, Justin, tied the knot in a beautiful wedding<br />
ceremony that many had the privilege of attending. Justin was the one person that both Rani and Mano<br />
knew would be able to love and look after Mo unconditionally. They were to be married for the next six<br />
years and shared unwavering love for each other and faith in God.<br />
Despite the health challenges, Mohini chose to accept each day as a gift and would try her best to make<br />
the most of them. Mohini passed away on 10 September 2021 and was laid to rest on 12 September. She<br />
has left a massive void in the lives of all who had the pleasure of knowing her. The life lessons, laughs,<br />
tears, love and resilience are what her husband, family and friends will always remember about her.