Spring Issue 56
August 2018
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An athlete with
heart
The MDF has
my attention!
Living life
to the full
My journey from powerless to powerful
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Magazine
05 MDF notice board
06 National news
07 MD information
11 Disability information
MD INFORMATION
07 4 Approaches to treating Duchenne muscular dystrophy
09 How to talk to your child about their neuromuscular
disorder
10 Facioscapulohumeral muscular dystrophy
15 SMA treatment could soon be accessible in South Africa
Events
18 The 2018 Muscular Dystrophy Johannesburg to Cape
Town Cycle Tour
19 An athlete with heart
People
21 Everyone made me feel so welcome”: Sam Tisbury on
volunteering for MDUK
23 Living life to the full
24 My story Jason Howieson
25 The MDF has my attention!
26 My journey from powerless to powerful
Regular Features
30 The View from Down Here
31 Doctor’s corner
32 Sandra’s thoughts on …
Research
28 Update on Myonexus’ LGMD gene therapies
28 Positive interim results from Duchenne gene therapy
trial
29 Latest results from MTM gene therapy trial
29 Sarepta and Myonexus form partnership
29 FSHD drug receives fast track designation
C O N T E N T S
Published by:
Muscular Dystrophy Foundation of SA
Tel: 011 472-9703
Fax: 086 646 9117
E-mail: national@mdsa.org.za
Website: www.mdsa.org.za
Publishing Team:
Managing Editor: Pieter Joubert
Copy Editor: Keith Richmond
Publishing Manager: Gerda Brown
Design and Layout: Divan Joubert
Cover photo of Kerrie Walsh by Dee-Ann Kaaijk
Future Issues:
December 2018
(Deadline: 26 October 2018)
The Muscular Dystrophy Foundation
of South Africa
We are a non-profit organisation that supports
people affected by muscular dystrophy and
neuromuscular disorders and that endeavours to
improve the quality of life of its members.
From The
One of the worst things that can happen to a person is to be deliberately or
unconsciously excluded from conversations or even cut off during them. In our
society, where people prefer to stay comfortably in their familiar life, this happens
easily and regularly.
Disabled people know this pain of exclusion. They know how uncomfortable
others can be in their company, not knowing how to talk to them or what to say,
and perhaps even feeling that dealing with disabled people disrupts their own
comfortable living patterns and assumptions. Therefore they rather pass them
by, ignore and exclude them.
Instead of judging someone in a wheelchair, they should get to know them and
realise they are not so different and also enjoy the company of others and can
broaden others’ perspectives.
A lot can be learnt for example from people affected with muscular dystrophy. They know how to fight the battle
and how to treat others when faced with a challenge beyond their control. Even with all the stresses and hardships
they experience daily, they still smile and seldom complain.
Doctors are searching for a cure, conducting stem cell research, and experimenting with growth hormone
treatments, and we trust that they are on the right track. There is a lot that we, too, can do. Let us all try to make
lives of those around us easier and the future healthier and brighter, especially for children.
In this issue you will read of personal stories and awareness events. As usual you will also find MD information
and research articles. Please share your stories and let us know what you would like to read about in the
magazine.
Thank you to everybody who wants to make a difference in the lives of people with muscle-wasting conditions.
We appreciate that you care and are grateful for your support.
Regards
Pieter Joubert
4
September is muscular dystrophy
awareness month in South Africa
SOMEONE I LOVE
Needs A Cure
Please support
MUSCULAR DYSTROPHY AWARENESS & RESEARCH
Subscription and contributions to
the magazine
We publish three issues of MDF Magazine
a year and you can subscribe online
to the magazine or by calling your nearest
branch.
If you have any feedback on our publications,
please contact the National Office
by e-mail at national@mdsa.org.za
or call 011 472-9703.
Get all the latest news on the fight
against muscle-wasting conditions and
the latest research updates. It is our editorial
policy to report on developments
regarding the different types of dystrophy
but we do not thereby endorse any
of the drugs, procedures or treatments
discussed. Please consult with your own
physician about any medical interventions.
If you are interested in sharing your inspirational
stories, please let us know
and we'll be in touch to discuss this
with you.The Foundation would love
to hear from affected members, friends,
family, doctors, researchers or anyone
interested in contributing to the magazine.
Articles may be edited for space
and clarity.
MDF SA database
If you know people affected by muscular
dystrophy or neuromuscular disorders
who are not members, please
ask them to contact us so that we can
register them on our database. If we do
not have your current e-mail and postal
address, please contact your branch so
that we can update your details on our
database.
How can you help?
Branches are responsible for doing their
own fundraising to assist members with
specialised equipment. Contact your
nearest branch of the Muscular Dystrophy
Foundation of South Africa to find
out how you can help with fundraising
events for those affected with muscular
dystrophy.
Fundraising
Crossbow Marketing Consultants (Pty)
Ltd are doing invaluable work through
the selling of annual forward planners.
These products can be ordered from
Crossbow on 021 700-6500. For enquiries
contact the National Office by
e-mail at national@mdsa.org.za or call
011 472-9703.
MDF ::
MDF support information
For more information about the Muscular Dystrophy Foundation, the benefits of
being a member and details on how to become a member, call your nearest branch.
CAPE BRANCH (Western Cape,
Northern Cape & part of Eastern
Cape)
E-mail: cape@mdsa.org.za
Tel: 021 592-7306
Fax: 086 535 1387
Address: 3 Wiener Street, Goodwood,
7460
Banking details: Nedbank, current
account no. 2011007631,
branch code 101109
GAUTENG BRANCH (Gauteng,
Free State, Mpumalanga, Limpopo
& North West)
E-mail: gauteng@mdsa.org.za
Website: www.mdfgauteng.org
Website: www.muscleriders.co.za
Tel: 011 472-9824
Fax: 086 646 9118
Address: 12 Botes Street, Florida Park,
1709
Banking details: Nedbank, current
account no. 1958323284
branch code 192841
Pretoria Office
E-mail: swpta@mdsa.org.za
Tel: 012 323-4462
Address: 8 Dr Savage Road, Prinshof,
Pretoria
KZN BRANCH (KZN & part of
Eastern Cape)
E-mail: kzn@mdsa.org.za
Tel: 031 332-0211
Address: Office 7, 24 Somtseu Road,
Durban, 4000
Banking details: Nedbank, current
account no. 1069431362
branch code 198765
General MD Information
Cape Town
Lee Leith
Tel: 021 794-5737
E-mail: leeleith@mweb.co.za
Gauteng
Pieter Joubert
Tel: 011 472-9824
E-mail: gauteng@mdsa.org.za
Duchenne MD
Cape
Win van der Berg (Support Group)
Tel: 021 557-1423
KZN
Maxine Strydom (Support Group)
Tel: 031 762-1592
Cell: 083 290 6695
Gauteng
Jan Ferreira (Support Group – Pretoria)
Cell: 084 702 5290
Estelle Fichardt
Tel: 012 667-6806
Christine Winslow
Cell: 082 608 4820
Charcot Marie Tooth (CMT)
Hettie Woehler
Cell: 079 885 2512
E-mail: hettie.woehler@gmail.com
Facioscapulohumeral (FSHD)
Francois Honiball
Tel: 012 664-3651
Barry Snow
Cell: 083 66 66 270
E-mail: barry.snow@worleyparsons.
com
Friedreich Ataxia (FA)
Linda Pryke
Cell no: 084 405 1169
Nemaline Myopathy
Adri Haxton
Tel: 011 802-7985
Spinal Muscular Atrophy (SMA)
Zeta Starograd
Tel: 011 640-1531
Lucie Swanepoel
Tel: 017 683-0287
Spinal Muscular Atrophy (Adult
SMA)
Justus Scheffer
Tel: 012 331-3061
E-mail: justusscheffer@gmail.com
5
National
For many years Casual Day has been a steady favourite
on the calendar of many of South Africa’s businesses,
with some corporates sponsoring stickers for their
entire staff complement as a corporate social investment
initiative. Approximately 4 500 companies, 100 schools
and 400 organisations rendering services to persons
with disabilities are participating. This year Casual Day
takes place on Friday, 7 September 2018. The theme for
this year is “Be an everyday hero”.
Casual Day is one of the fundraising events that we participate in every
year in order to raise funds for our cause. We appeal for your kind
participation in this fundraising event by purchasing as many
Casual Day stickers as you can. They cost R10 each, of which
MDF will receive R4 per sticker. You can purchase stickers at
your nearest branch.
• National Office – Tel. 011 472-9706
• Gauteng Branch – Tel. 011 472-9824
• KwaZulu-Natal Branch – Tel. 031 332-0211
• Cape Branch – Tel. 021 592-7306
We hope you will be able to assist us, as your participation
will go a long way towards making a difference in the lives
of our members.
My School Card
MySchool is South Africa’s biggest community-based
fundraising programme and raises over R4 million
every month for schools, charities and animal welfare
organisations.
Every time you swipe your MySchool card at any
of the partner stores they make a donation on
your behalf to the beneficiary of your choice.
Please ask friends and family members to sign up for
a MySchool card and make the Muscular Dystrophy
Foundation of South Africa your chosen beneficiary,
which means the MDF would receive a percentage of
the purchase value whenever the card is used.
Some of the participating stores are Woolworths, Engen and Flight Centre.
Sign up at www.myschool.co.za
6
MD
The following two articles were originally published on the website “Muscular Dystrophy News Today”
by BioNews Services, Dallas.
4 Approaches to Treating Duchenne Muscular
Dystrophy Highlighted at PPMD Conference
Muscular Dystrophy News, 6 July 2018
Discussions of the work being done on four different
approaches to treating Duchenne muscular dystrophy (DMD)
– repairing or replacing dystrophin, managing inflammation,
improving muscle mechanics, and editing dysfunctional
genes using CRISPR/CAS9 – were a highlight of sessions
at the recent 2018 Parent Project Muscular Dystrophy
(PPMD) conference in Scottsdale, Arizona.
Patients, parents, doctors, researchers, and industry
executives gathered at the conference to share news and listen
to sessions, including four led by pharmaceutical and biotech
companies reporting results of preclinical and clinical work
on each of these four potential treatment methods for DMD.
Restoring or Replacing Dystrophin
Representatives from five companies working to develop
treatments that restore or replace dystrophin, a protein that
normally supports skeletal and cardiac muscle function but
is dysfunctional in DMD patients, presented data from recent
trials.
NS Pharma shared results from Phase 1/2 and Phase 2
(NCT02740972) studies of NS-065/NCNP-01, conducted
in North America and Japan. The investigational therapy,
which is designed to encourage cells to skip over a mutation
in exon 53, seemed to allow patients to naturally develop a
smaller, but somewhat functional, form of dystrophin. The
randomized, placebo-controlled studies showed some evidence
of a dose-dependent increase in the formation of the protein.
An open-label Phase 2 extension study (NCT03167255) is
continuing to evaluate the therapy’s safety and potential
effectiveness in 19 boys with DMD. All are being treated
with a once-weekly intravenous injection of NS-065/NCNP-
01 at either 40 mg/kg or 80 mg/kg for 72 weeks.
Wave Life Sciences presented data on a similar candidate,
WVE-210201, targeting a mutation on exon 51. The data
came from in vitro cellular studies and research done in mice.
The company is currently enrolling patients, ages 5 to 12, in
a randomized, double-blind, placebo-controlled Phase 1 trial
(NCT03508947) at sites in the U.S., France, and the U.K.
Wave Life is planning to research a new therapy targeting
exon 53 in 2019.
Sarepta Therapeutics presented preclinical data on several
candidates targeting different exons, and discussed a new
open-label Phase 1 trial (NCT03375255) testing an exon
51-skipping potential treatment, SRP-5051. This study is
enrolling male patients, ages 12 and older, at sites across the U.S.
The session briefly took a somber turn when a representative
from Summit Therapeutics touched upon the company’s
decision to discontinue its development of ezutromid based
on Phase 2 trial data showing a lack of benefit to DMD
patients.
The session ended with PTC Therapeutics addressing
developments with Translarna (ataluren), approved in the
EU as the first treatment targeting the underlying cause of
DMD. Translarna is not approved for use in the U.S., but is
expected to come under FDA review again in about a year.
A long-term, randomized Phase 3 trial (NCT03179631)
testing Translarna’s effects on disease progression versus
placebo is enrolling about 250 patients with nonsense mutations,
ages 5 and older, across the U.S., Europe, Asia, and
Australia.
Inflammation
By Emma Yasinski
Therapies targeting inflammation, such as glucocorticoids,
have commonly been prescribed to DMD patients for decades.
Research suggests they can help prolong patients’ ability to
walk. But many patients – and parents – oppose their use due to
concerns about side effects, such as bone loss and weight gain.
Five companies presented data on new and potentially
different ways of treating inflammation in DMD patients.
Reveragen presented data from an open-label Phase 2a
trial (NCT02760277) suggesting that vamorolone could
be safer than existing steroids, such as prednisone.
Researchers developed this potential treatment to be what is
called a “dissociative steroid,” meaning that its potential
effectiveness is chemically separated from potential side
effects. The next trial testing this therapy, anticipated to start
in 2019, will include DMD patients ages 2 to 4 and 7 to 18.
Catabasis presented Phase 2 trial data (NCT02439216) on
edasalonexent, which inhibits a protein complex called the
nuclear factor kappa-light-chain-enhancer of activated B-
cells (NF-kB), known to be involved in inflammation. The
therapy showed potential to slow disease progression. A
Phase 3 trial is also planned that will measure ambulatory
and timed movement functions, and collect MRI scans of
muscles to determine their fat fractions.
7
MD
Italfarmaco discussed Phase 2 data (NCT01761292) on
givinostat, a histone deacetylase (HDAC) inhibitor. Increased
HDAC activity may trigger inflammation and prevent
muscle regeneration in DMD patients. A randomized, doubleblind,
placebo-controlled Phase 3 trial (NCT02851797) is
currently enrolling more than 200 ambulatory patients, ages 6
to 17, who will be given either 10 mg/mL of givinostat or a
placebo twice daily. The study is taking place at sites in the
U.S., Canada, and Europe.
Mallinckrodt Pharmaceuticals presented preclinical data on
its anti-inflammatory candidate, MNK-1411, which received
orphan drug designation from the U.S. Food and Drug
Administration. MNK-1411 is thought to prevent inflammation
by mimicking the adrenocorticotropic hormone, which
regulates immune cell function. The company is beginning
a Phase 2 trial (NCT03400852) in the U.S. in boys ages 4 to
8. Patients will be randomized to receive a high- or low-dose
injection of MNK-1411 or a placebo twice a week.
Capricor shared preclinical and Phase 1/2 data
(NCT02485938) suggesting that its cell therapy, CAP-1002,
could reduce scarring on the heart, and possibly improve
upper limb function. A Phase 2 trial (NCT03406780)
is actively recruiting both ambulatory and non-ambulatory
patients in the U.S. who will be randomized
to receive either CAP-1002 or a placebo via intravenous
infusion once every three months for 12 months.
Improving Muscle Mechanics
Five companies also presented data on therapies
designed to improve muscle mechanics through a variety of
mechanisms.
Roche/Genentech and Pfizer both outlined potential
treatments that block myostatin, a molecule that tells muscles
to stop growing. Roche/Genentech is recruiting ambulatory
boys ages 6 to 11 for a Phase 2/3 trial (NCT03039686) in
which patients will be randomized to receive 48 weekly
injections of RG6206 (also known as BMS-986089) or a
placebo. The study is being conducted in several countries,
including the U.S., Australia, Argentina, and those in Europe.
Pfizer presented preclinical data for its myostatin-inhibiting
candidate, domagrozumab. A randomized, double-blind,
placebo-controlled Phase 2 trial (NCT02310763) evaluating
its effectiveness for DMD is expected to conclude in late 2019.
Santhera shared results from its Phase 3 DELOS
trial (NCT01027884), suggesting that idebenone may
delay the loss of respiratory function in DMD patients who
aren’t taking steroids. The company is now conducting
another Phase 3 trial, SIDEROS (NCT02814019), which is
enrolling ambulant and non-ambulant patients, 10 years and
older, currently on steroid treatment, in the U.S. and Europe.
Participants will be randomized to take idebenone or a
placebo daily for 18 months. The therapy is not yet approved
in the U.S. but has become available under an expanded
access program, in the country, but an advisory committee in
Europe twice recommended against its approval for DMD.
Phrixus Pharmaceuticals presented preclinical data on its
Carmaseal-HD therapy, a daily injection that may modify the
course of the disease by repairing membrane damage. The
company hopes the therapy will benefit patients regardless of
their individual genetic mutation. The first clinical trial – an
open-label Phase 2 study (NCT03558958) – is currently enrolling
up to 10 non-ambulatory patients, ages 12 to 25, with
respiratory dysfunction, who will take the therapy once a day
for 52 weeks at Cincinnati Children’s Hospital.
FibroGen discussed its potential fibrosis-preventing therapy,
pamrevlumab. The therapy has been tested in trials involving
patients with pancreatic cancer and pulmonary fibrosis for
safety, and an open-label Phase 2 trial (NCT02606136) in 22
non-ambulatory DMD patients ages 12 and older in the U.S.
is ongoing. Patients are receiving a biweekly intravenous infusion
of the therapy for up to 156 weeks.
Gene Editing
The research portion of the conference ended with a panel
on gene editing techniques. Dongsheng Duan, PhD; Jeff
Chamberlain, PhD; and Melissa Spencer, MD, PhD,
tentatively discussed their work and answered questions
about CRISPR/CAS9, the breakout gene editing technique
adapted about five years ago. While enthusiastic, the
presenters were careful to remind parents and patients that
forgoing standard DMD care while waiting for CRISPRbased
therapies to be developed would not be wise.
Researchers are hopeful that CRISPR/CAS9 may be used
to delete mutated genes in DMD, or possibly replace
them with genes that encode functional proteins. One
of the struggles is designing a delivery system. Some
scientists are using viruses to deliver the gene
editing molecules, while others are working to develop
nanoparticles that might be tailored specifically for this
purpose.
It will be crucial to selectively edit muscular cells, which are
less susceptible than others to the risks of gene editing, such
as cancer cells. The researchers showed promising animal
data, but again emphasized that the technique has a way to go
before it might benefit patients.
Article online at: https://musculardystrophynews.
com/2018/07/06/4-dmd-treatment-approaches-highlightedppmd-conference/
8
Muscular Dystrophy News, 11 May 2017
Finding out your child has a neuromuscular disorder is an
incredibly difficult time for the whole family, but you adjust
quickly. While your child’s unlikely to realize they’re different
from other children when they’re young, they’ll start to
question why they’re different from their peers and siblings
as they get older.
According to Muscular Dystrophy Canada, there will come
a time when you’ll need to sit down with your child and explain
their condition and what it means. There is no right or
wrong way to tackle this, nor is there any timeframe. It’s generally
best to be as honest as you can without overloading
your child with information they may not be mature enough
to process.
Usually, children with neuromuscular disorders will notice
they are slightly different from others at a fairly young age.
It’s advised to handle any questions as they occur. Explaining
how their condition will affect them as they age may be
stressful for both parents and child, but it’s important that the
topic is handled carefully and sensitively. Shielding children
from the truth may backfire if they find out why they’re different
or what their disorder means from others. Your child
needs to be able to trust you and look to you for guidance.
MD
How to Talk to Your Child about Their
Neuromuscular Disorder
By Wendy Henderson
Children need to know why their bodies don’t work in the
same way as other children’s, as well as what their future
may have in store for them. You can explain most disorders in
an easy-to-understand way that will help them grasp what’s
happening and give them the tools to explain their condition
to other people.
Explaining that their muscles don’t work properly because
they didn’t come with the right instructions or that the nerves
in their spine are sending the wrong signals are two easy
ways for children to understand the basics of why they can’t
do some of the things their friends or siblings can.
It’s essential that you take the time to reassure your child that
he or she has done nothing wrong and that it isn’t their fault
they have a neuromuscular disorder. They also need to know
that it’s OK if they sometimes feel sad or angry about their
situation.
Take time to focus on the positives in your child’s life and all
the things they’ll still be able to do, rather than concentrating
on the things they won’t be able to do because of their
disorder. Try to find some older children who have the same
disorder who are living full and active lives for them to look
up to.
Article online at: https://musculardystrophynews.
com/2017/05/11/talking-to-your-child-about-their-neuromuscular-disorder/
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MD
Facioscapulohumeral Muscular Dystrophy
The following comprises extracts from the booklet About FSHD: Facioscapulohumeral muscular
dystrophy, by the FSH Society (Lexington, MA, ©2015).
What is FSHD?
FSHD is among the most common forms of muscular
dystrophy, affecting children and adults of both sexes.
The cardinal feature of FSHD is the progressive loss of
muscle strength. The disease’s name comes from the typical
pattern of weakness at onset: the face (facio), shoulder girdle
(scapulo), and upper arms (humeral). However, the disease
can differ in the typical initial pattern of weakness: not
every patient experiences facial muscle loss, and many
develop muscle weakness in the legs and torso.
The symptoms can develop at any age, from infancy through
advanced age. Many patients recall being unable to whistle,
smile, or close the eyelids as a child. The majority of males
are diagnosed by age 20, and females by age 30. About 4
percent of cases are diagnosed in children under the age of
5. These early-onset or infantile-onset (iFSHD) patients are
at greater risk of having more severe symptoms and added
health complications.
Although the progression of FSHD is variable, it is usually
relatively slow. Asymmetry is a hallmark of FSHD. Most
patients will observe that one arm (or shoulder blade, or
lower leg) is weakened, while the other remains stronger. The
reason for this asymmetry is unknown.
Early weaknesses of the muscles around the eye (difficulty
closing the eye) and mouth (difficulty smiling, puckering
the lips, or whistling) are distinctive for FSHD. Facial
weakness in combination with weaknesses in the muscles that
stabilize the shoulder blades, which result in “winging” of the
scapula, is often the basis of the physician’s initial diagnosis
of FSHD.
As the disease progresses, the lower and upper leg
muscles are often affected. About 20 percent of FSHD
patients overall will become dependent on a wheelchair or
scooter. Weakness in the abdominal muscles can cause a
protuberant abdomen and lumbar lordosis (“sway back”).
The lower abdominal muscles are usually weaker than the
upper abdominal muscles. This results in a movement of the
navel toward the head upon flexing the neck. Doctors call
this a positive Beevor’s sign; it is not seen in many other
diseases and is a physical characteristic very specific to FSHD.
Approximately half of FSHD cases also involve abnormalities
of blood vessels in the back of the eye, but these lead to
visual problems in less than 1 percent of cases. Since these
abnormalities are not exclusive to FSHD, one must bear in
mind that their presence alone in someone at risk for having
FSHD is not sufficient for a diagnosis of FSHD.
Respiratory insufficiency is a more common problem,
especially among patients who have become scooter or
wheelchair dependent. These patients should have an annual
consultation with a pulmonologist to monitor respiratory
function and blood carbon dioxide.
Symptoms or signs can (but don’t always)
include:
■ inability to whistle;
■ inability to sip through a straw;
■ eyes that don’t close fully during sleep;
■ difficulty with sit-ups and pull-ups;
■ shoulder blades that “wing” out;
■ difficulty raising arm above shoulder height;
■ foot drop (foot dorsiflexion weakness);
■ difficulty walking, climbing stairs, or rising from a seat;
■ falling;
■ weak lower abdominal muscles, protuberant abdomen,
“Beevor’s sign”;
■ curved spine (lordosis).
Individuals with FSHD, particularly with more
advanced or severe cases, can also experience:
■ episodes of “malaise” or “burning pain” in muscles;
■ severe pain from changes in posture and strain on
remaining muscles;
■ chronic fatigue;
■ respiratory insufficiency (potentially life threatening);
■ symptomatic hearing loss;
■ Coats’ disease (symptomatic retinal vascular disease),
though this is rare.
What causes FSHD?
FSHD is genetic in origin, caused by a complex combination
of changes in an individual’s DNA. It is inherited and is not
contagious.
FSHD can also have the following non-muscular
manifestations: high-frequency sensorineural hearing loss in
both ears, respiratory insufficiency, abnormalities of blood
vessels in the back of the eye, and non-symptomatic cardiac
arrhythmias.
In more than half of people with FSHD, high-frequency
sensorineural hearing loss occurs in both ears; this should
be checked in children and adults experiencing hearing
difficulties.
10
FSHD Type 1 (also called FSHD1, FSHD1A, or FSHMD1A)
is the more common form of FSHD, accounting for approximately
95 percent of cases.
FSHD is thought to result from the abnormal expression
in muscle of a gene called DUX4. Normally, DUX4 is
expressed only in early embryogenesis and in the cells that
develop into sperm. But when expressed in muscle, DUX4
appears to be toxic. Other genes may also be involved in the
disease process.
The DUX4 gene is encoded in a unit called D4Z4, which
is repeated in tandem near the end of chromosome 4 (at a
location called 4q35). In unaffected individuals, the D4Z4
array on chromosome 4 is “hypermethylated” (has many
methyl molecules attached) and is compacted, preventing
DUX4 expression.
In individuals with FSHD Type 1, this D4Z4 repeat array
is reduced from a normal range of more than 10 contiguous
units to a range of between one and 10 contiguous units.
The contraction of the D4Z4 region on chromosome 4 by
itself is not sufficient to cause FSHD. Adjacent to the D4Z4
region lies a region that comes in two alleles (variants) called
4qA and 4qB. Only 4qA contains a polyadenylation site
allowing a stable production of the DUX4 gene.
Individuals who have a 4qB “non-permissive” allele are
unaffected, even if the D4Z4 region is shortened. With FSHD,
in addition to having 4qA, the contracted D4Z4 region is
depleted in methyl groups (is under- or hypomethylated).
It is the combination of these three factors that results in the
full expression of FSHD symptoms.
Researchers have found individuals who have the contracted
D4Z4 region together with the 4qA allele but who have no
symptoms, or extremely mild symptoms. These “nonmanifesting”
individuals can pass along FSHD to their children.
The difference between being non-manifesting and having
FSHD symptoms appears to lie in the degree of methylation
of the D4Z4 units. Non-manifesting individuals have several
times higher methylation than do individuals with FSHD
symptoms, although less methylation than people with a normal
number of D4Z4 repeats.
FSHD Type 2 (also called FSHD2, FSHD1B, or FSHMD1B)
is the term used to describe the 5 percent of FSHD cases that
test negative for FSHD Type 1 (meaning that they are not
associated with a loss of D4Z4 repeat units on chromosome
4).
Eighty-five percent of FSHD2 cases are caused by the
inheritance of two independent genetic variations:
mutation of the Structural Maintenance of Chromosomes
flexible Hinge Domain containing 1 gene (SMCHD1)
on chromosome 18, combined with having the same
“permissive” 4qA allele on chromosome 4 that is associated
with FSHD1. Individuals with FSHD2 have extreme loss of
methylation of the D4Z4 units. The size of the D4Z4 region
of the 4qA (i.e., DUX4-producing) chromosome in FSHD2
is most often between 11 and 16 units, which is at the lower
end of the repeat size spectrum of unaffected individuals.
FSHD “Type 3” refers to the 1 percent of cases that lack the
FSHD1 and FSHD2 genetic mechanisms, and is an active
area of research.
How is FSHD diagnosed?
The first step in diagnosing FSHD is a visit with a doctor for
a physical exam. An initial diagnosis is based on the pattern
MD
of muscles affected. The doctor will ask a series of questions
about the patient’s family history and medical history.
The doctor may order tests to determine whether the
symptoms are a result of FSHD. Tests may also rule
out other problems that could cause muscle weakness,
such as surgery, toxic exposure, medications, or
other diseases. These tests may include the following:
■ Blood tests to measure levels of serum creatine kinase
(CK), an enzyme that is released into the bloodstream when
muscle fibers are deteriorating, and serum aldolase, an enzyme
that helps break down sugars into energy. Elevated
levels of either of these enzymes can indicate a problem
with muscles and a need for additional testing. However, a
normal CK level does not rule out FSHD.
■ Neurological tests including electromyography (EMG) to
rule out other nervous system disorders, identify patterns
of muscle weakness and wasting, test reflexes and coordination,
and detect muscle contractures.
■ Muscle biopsies, which involve the removal of muscle
tissue using a biopsy needle or during a simple surgical
procedure. The tissue is then examined under a microscope.
In FSHD, a muscle biopsy might reveal several abnormalities,
but none are uniquely characteristic for the disease,
or the muscle might even appear normal. To confirm a
diagnosis of FSHD with certainty, a genetic test is needed.
■ A genetic test involves taking a small sample containing
the patient’s cells (blood, saliva, skin, etc.) and sending it
to a specialized laboratory where the DNA is extracted and
analyzed. See the next section for further details.
How does genetic testing work for FSHD?
Genetic tests for FSHD1 are commercially available. Genetic
testing for FSHD2 is not yet widely available. The tests are
highly reliable for most cases. Your doctor can order a small
blood sample to be drawn and sent to a testing laboratory. The
laboratory extracts DNA for the test from the white blood cells.
The FSHD1 genetic test detects the deletion of D4Z4 repeat
units on chromosome 4, described earlier. Although several
factors may occasionally complicate the test, confirmation of
this deletion is 98 percent reliable as a presumptive diagnosis
of FSHD1.
Individuals who test negative for FSHD1 may be referred for
testing for FSHD2. The FSHD2 test detects mutations in the
SMCHD1 gene on chromosome 18, the presence of the 4qA
allele on chromosome 4, and the amount of methylation of
the D4Z4 region on chromosome 4.
For more information on laboratories that offer genetic
testing, please refer to the FSH Society’s website (www.fshsociety.org/genetic-testing).
The Society does not endorse any test
or laboratory. Individuals should consult their own physician
and genetic counselor about taking the DNA diagnostic test.
Every person has 23 pairs of chromosomes (DNA
packages) in each cell. Half of the genes in each pair
come from the father and half from the mother. In
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MD
autosomal dominant inheritance, it takes only one copy
of a disease-causing gene (blue) to cause a disease. If one
parent has a disease-causing gene, each child has a 50%
chance of inheriting that gene and having the disease.
How does a person inherit FSHD?
About two-thirds of individuals with FSHD inherit the
disease from an affected parent. If one parent has the
FSHD genetic mechanism, that parent has a 50-50 chance
of passing the disease on to each child of either sex.
Seemingly unaffected family members can carry the
mutation. This fact was discovered after genetic
testing was done on multiple family members after one
member was diagnosed with FSHD. It is not known
whether these “non-manifesting” individuals will develop
symptoms as they grow older. The discovery of non-manifesting
cases means that a child could inherit FSHD even
if both parents appear to be unaffected, if one parent
carries the mutation but does not have symptoms. Only
genetic testing of both parents can determine if this is the case.
With several very rare exceptions, if individuals do not have
a positive FSHD1 or FSHD2 genetic test, they cannot pass
the disease on to their children.
If a family member has FSHD, could I have the
FSHD mutation?
Yes. If you have a biological parent, sibling, or other blood
relative who has the FSHD mutation, you have a risk of
carrying the mutation, but only if at least one parent has
the FSHD gene mutation. The number of D4Z4 repeat
units, known as the FSHD deletion size, is stable across
generations, so an affected parent will likely pass along the
same number of D4Z4 repeats and 4qA haplotype to a child.
Oftentimes, an individual is diagnosed and does not know if
a parent has the FSHD genetic mutation. Although a parent
may not have signs of FSHD, only a genetic test can confirm
whether or not the parent carries FSHD. The parent’s parents
may be affected as well, and possibly uncles, aunts, and cousins.
Often, when a person is diagnosed, the disease is discovered
to be present throughout the extended family tree and over
many generations. It is important to be aware that there may
be other family members who are affected but unaware that
they may have FSHD or may be at risk for it. Professionals
with knowledge of genetics and inheritance of FSHD can
advise them regarding that risk.
Should I seek a diagnosis even if I don’t have
symptoms?
Adults at risk, even without obvious symptoms, may want
to consult a physician or genetic counselor about seeking a
diagnosis if they wish for reassurance.
Examinations by clinicians familiar with the disease are
quite dependable when they detect an expected pattern of
weakening muscles. However, the diagnosis may still be
equivocal at younger ages and with some at-risk adults with
mild or non-manifesting cases. This uncertainty can occur
during years when there are important vocational, marital,
and family planning choices to be made.
A genetic test can help alleviate much of this uncertainty.
However, the test result does not fully predict how the
disease will run its course in an individual. A genetic
counselor can help you navigate the decision on whether to
be tested and assist you and your family in processing the
information from the test results.
What are sporadic cases of FSHD?
Sporadic FSHD cases are those in which a patient’s parents
are both unaffected. Studies report that up to a third of FSHD
cases are sporadic. Eighty percent of sporadic cases are the
result of a new, spontaneous mutation (known as a de novo
mutation). Once this mutation appears in an individual, each
of his or her offspring has a 50 percent chance of inheriting
FSHD.
Approximately 20 percent of reported sporadic cases
result from having a seemingly unaffected parent who is a
“germline mosaic,” meaning that only the mother’s or
father’s germ cells (egg or sperm) have the FSHD mutation,
while the rest of the body is genetically normal. Once a child
inherits FSHD through a germline mutation, all cells in the
child’s body carry the FSHD mutation, and the disease can be
transmitted to subsequent generations.
Is there a prenatal test for FSHD?
Yes. Using the same technology as the DNA test described
above, prenatal testing is possible. Also, for women who
choose to have in vitro fertilization, preimplantation genetic
diagnosis (PGD, DNA testing of embryos) is available.
An individual who is interested in a prenatal test or PGD
for FSHD should consult a physician or contact the FSH
Society. The Society can provide further information about
this subject.
How many people have FSHD?
Often-cited figures for the prevalence of FSHD range from
one in 14,000 to one in 20,000. However, due to increased
experience with FSHD, population-based research, and
improved genetic testing, this estimate may be low. …
FSHD occurs in all racial groups and with equal frequency
in both sexes.
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When do symptoms appear?
Although the FSHD genetic mechanism is present from
conception, weaknesses are generally not noticeable until
the second decade of life. Muscle weakness can be found
in most affected individuals by age 20 in males and by age
30 in females. However, in some individuals the symptoms
can be so slight that they can go unrecognized well into
advanced age. Conversely, in some children symptoms can be
quite pronounced and severe from the first few years of life.
It is also not uncommon for FSHD symptoms to be mistaken
for an injury or other disorder such as polymyositis (muscle
inflammation). For some people, FSHD is diagnosed fairly
quickly, while for others it can take many years from initial
symptoms to a confirmed diagnosis. This depends on many
factors, including the individual’s access to doctors and other
healthcare providers knowledgeable about FSHD.
FSHD in children
In early-onset or infantile FSHD (iFSHD), an infant or child
under the age of 5 develops symptoms. About 4 percent of
symptomatic FSHD cases are of the infantile type. In iFSHD
there are facial weaknesses during the first two years of life
in addition to other typical muscle weaknesses of FSHD.
Some of these children also have moderate to profound
bilateral sensorineural hearing loss and sight-threatening
retinal abnormalities (Coats’ disease). It is important to
routinely check hearing and vision if your child is affected by
FSHD. Early-onset and infantile cases of FSHD often pose
special challenges arising from severity of the symptoms,
and schooling and socialization issues. The FSH Society
provides helpful information, including a brochure for
schools, and coordinates a private Facebook group for
parents of children with iFSHD. For a brochure or further
information, please contact the FSH Society.
What is the prognosis of FSHD?
Predicting the course and outcome of the disease – the
prognosis – has its certainties and uncertainties. There
is certainty that some skeletal muscles will weaken
and waste throughout life and that this can, and often
does, cause limitations on personal and occupational
activities. FSHD appears not to diminish the intellect. The
heart and internal (smooth) muscles are generally spared.
There are uncertainties. The rapidity and extent of muscle
loss differ considerably among FSHD patients – even among
members of the same family. Some report few difficulties
throughout life, while others need a cane, walker, or wheelchair
as walking becomes too difficult or impossible. The degree
of severity in a parent with FSHD cannot accurately predict
the extent of disability that may develop in his or her child.
Muscle and movement are an important part of the full
expression of much of life. Often, there are losses difficult
to define in clinical terms. The accompanying losses often
eclipse the clinically defined symptoms and are a significant
part of the FSHD prognosis.
Are treatments and aids available for FSHD?
There is no treatment or cure yet for FSHD. There are,
however, things that can be done to alleviate its effects,
including meeting with knowledgeable health practitioners.
Neurologists are often the primary physicians in
muscle disease clinics, since muscles do their work
through stimulation by nerves. If your primary care
doctor notices muscle weakness, he or she should refer
you to a neurologist who specializes in muscle diseases.
Physiatrists are physicians who work with chronic
neuromuscular conditions. Periodic visits with a neurologist
or physiatrist are useful to monitor the progress of FSHD and
to obtain referrals to other professionals and services.
An orthopedist (a physician concerned with the
skeletal system and associated muscles, joints, and
ligaments) can offer advice about mobility issues and
other functional problems of the muscular/skeletal system.
Physical therapy, including light exercise, helps preserve
flexibility. Swimming is especially helpful by making many
movements easier. One should stay as active as possible,
with rest breaks as needed during exercise and activities.
Moderate aerobic exercise combined with cognitive
behavioral therapy has been shown in a clinical trial to
reduce chronic fatigue in FSHD patients. Physical and
occupational therapists can help with suggestions for
adaptations and physical aids that can often partially free
an FSHD patient from some limitations of the disease.
Foot drop can sometimes be managed with ankle-foot
orthotics (AFOs) and knee-ankle-foot orthotics (KAFOs).
Patients may resist adaptations and aids, feeling that they are
“giving in” to FSHD by using them, but these devices reduce
the risk of falls and serious injuries that can lead to permanent
loss of mobility. A cane or walking stick can be very
helpful in avoiding falls and alerting others that you are at
risk for falling. Adaptations and physical aids help to extend,
rather than end, mobility and independence. Many patients
report significant pain, although others are spared. No specific
treatments are available. Gentle stretches in the morning
can alleviate pain from cramped muscles. Pain medication
and mild physiotherapy are often prescribed with moderate
results. Some patients have found significant relief through
acupuncture. Relaxation and managing stress are reported to
help with many chronic pain conditions. Dietitians can help
maintain a healthy diet and avoid unnecessary weight to
reduce stress on already weakened muscles.
Speech and hearing therapists can help with limitations
imposed by hearing loss and weakened facial musculature to
improve speech and communication.
13
MD
Surgery to attach the scapula (shoulder blade) to the ribcage
can improve motion of the arms or relieve pain. Surgical
methods to address foot drop and facial muscle weakness
are also being developed. Only some patients are suitable
candidates for surgery. Individuals who are considering such
surgery should consult with their neurologist or physiatrist
and an orthopedic surgeon (for scapular and leg surgery) or
reconstructive plastic surgeon (for facial surgery). Choose
only surgeons who have experience with the procedure and
a deep understanding of FSHD and the demands of post-surgical
physical rehabilitation. It is essential to discuss these
procedures with individuals who have undergone the
surgery. …
Can respiratory insufficiency occur in FSHD?
Yes. Respiratory involvement can occur. Patients with
moderate to severe FSHD should have their respiratory
function evaluated during periodic clinic visits. Regular
monitoring of respiratory function is suggested, as one might
experience insufficiency over a long period of time without
presenting signs.
It’s important to be aware that respiratory compensatory
mechanisms can allow one to adapt to functioning with high
levels of carbon dioxide (CO2) in the blood – at levels
doctors would not expect to permit normal function. This is
known as hypercarbia and is dangerous in the long term.
Discuss breathing tests with your doctor if you experience
any of the following:
■ Never feeling rested even after a good night’s sleep.
■ Morning headaches.
■ Snoring loudly or in a different pattern than usual.
■ Labored and interrupted breathing while lying down.
■ Fatigue and daytime sleepiness.
For FSHD patients with respiratory insufficiency, in standard
practice, trauma (ER, ICU), surgery, and anesthesiology
settings, care should be taken not to suppress respiratory
drive with narcotics unless it is a situation of palliative care.
If narcotics are necessary for pain control, it is very important
that you notify the emergency responders or doctors about
FSHD and any respiratory problems you might have or be
at risk for. Carry a medical alert card with you at all times.
Oxygen supplementation can be detrimental to patients
with undetected or mismanaged hypercarbic (high CO2)
respiratory failure and lead to worsening CO2 levels.
Oxygen should generally not be administered unless
BiPAP (Bi-level Positive Airway Pressure) or similar
ventilatory support is also being used. Your physician and a
pulmonologist can help you periodically monitor CO2 levels
in the office or pulmonary function lab in the hospital.
Along with respiratory care, it is important to know that
in FSHD, cardiac studies show that cardiac arrhythmias
and right bundle branch block (RBBB) can occur without
cardiac symptoms and when echocardiography is
usually normal. That said, individuals at risk for respiratory
insufficiency or respiratory failure should talk with a
physician about monitoring for symptoms of pulmonary
hypertension and congestive heart failure. …
For more information or to support the work of the FSH
Society, visit www.fshsociety.org.
Source online at: https://www.fshsociety.org/wp-content/
uploads/2014/03/New-Patient-brochure-FINAL-UPLOAD-
ABLE.pdf
The tests should include forced vital capacity and
nocturnal oximetry tests. These are easy, non-invasive
tests that don’t require a hospital stay. Because
many doctors, even experienced neurologists, don’t a
ssociate FSHD with respiratory problems, your
doctor may be reluctant to order respiratory tests. Insist on
respiratory tests if you feel the symptoms described above.
Respiratory insufficiency can initially be managed with
nighttime non-invasive pressure support, typically a
BiPAP (Bi-level Positive Airway Pressure) machine.
BiPAP or similar mechanical ventilation at night can
increase oxygen and greatly improve sleep and energy
level. In more advanced or acute cases, patients may
require the use of a volume-control and pressure-control
ventilator for invasive and non-invasive ventilation.
You should be tested periodically to ensure that the settings
on the machine are appropriate. Your doctor should consult
a respiratory therapist (RT) as early as possible, and the RT
should remain involved in monitoring your progress.
World FSHD Day took place on 20 June to raise awareness
for facioscapulohumeral muscular dystrophy. Individuals
with FSHD, their families and supporters, and advocacy
organisations across the globe came together to raise
awareness for FSHD, one of the most prevalent forms of
muscular dystrophy.
14
Up until a few years ago there was no known treatment
for spinal muscular atrophy, an autosomal recessive
degenerative neuromuscular genetic disorder, considered
the number one genetic cause of infant death. Individuals
affected by SMA are known to have an SMN1 gene
deletion, which is the gene responsible for producing
muscle building protein. Too little of this vital protein
results in early death of survival motor neurons, which
leads to muscle wastage or atrophy.
MD
SMA treatment could soon be accessible in
South Africa
By Tasnim Jadwat
Medical experts and researchers as well as motivated
families of individuals with SMA have worked
relentlessly in funding and identifying ways of
targeting the backup SMN2 gene to produce sufficient
protein for muscle development. The results have been
outstanding, with major pharmaceutical companies
applying for fast-tracked FDA approval in America. With
Spinraza being FDA approved, countries worldwide have
applied for accessibility to treatment.
Nusinersen or Spinraza is the only FDA approved
treatment for all types of spinal muscular atrophy and
may soon be made available in South Africa at a
negotiated cost. The drug, which received FDA approval
in December 2016, has shown promising results in
individuals affected by SMA who lack the SMN1 gene.
The costly drug has been labelled a miracle as it assists
in muscle development by targeting the SMN2 gene and
reversing symptoms in SMA patients.
Generally, the younger the individual diagnosed with
SMA is, the more severe is the condition, yet infants
have shown immense improvement in achieving
milestones when commencing the treatment as early as
possible. Older individuals are also showing favourable
results. There are 4 or 5 different forms of SMA,
varying according to severity of the condition, with type
0-1 being the most severe. Since SMA is a degenerative
condition, muscle wastage occurs with time, disabling
an individual and making them susceptible to respiratory
infections. In some of the severer forms, the ability to
swallow, talk and even smile is lost. A simple cold or flu,
if not treated in time and properly, can result in death.
The staggering price tag is expected to be negotiated
considering South Africa’s economic status. In America,
six treatments are administered in the first year at a cost
of $125 000 per dose, i.e. $750 000 in total. Every
subsequent year requires three doses of the drug
administered through a lumbar puncture. This excludes
administration, hospital and professional services costs.
Cure SMA South Africa needs your help!
Do you or someone you know have spinal
muscular atrophy?
We are looking for any person or persons affected by this
condition as Biogen’s breakthrough drug Spinraza might
soon be available in South Africa at a negotiated cost.
If you have answered “yes” to the above question, please
submit your details so that we can add you to our support
group and keep you informed with regard to obtaining
Spinraza.
Contact:
Tasnim Jadwat, Cure SMA South Africa
Mobile: 072 153 5953
Email: tassyjad@gmail.com
#CureSMA
15
Events
The 2018 Muscular Dystrophy
Johannesburg to Cape Town Cycle Tour
By Dr Sandeepa Rajbaran Singh
It is said that hope begins in the dark, the stubborn hope
that if you just show up and try to do the right thing the
dawn will come. On 28 February 2018, well before the
blushing of the eastern skies, a group of commendable
cyclists did just that: they showed up and did the right
thing in the hope that each of their pedal strokes would
help change the lives of those in need. Looking ahead
at nine days of spokes, spindles, seats and sprockets,
the team of Muscle Riders set out to complete the 2018
Muscular Dystrophy Johannesburg to Cape Town
Cycle Tour as a salutation to the sufferers of muscular
dystrophy (MD).
Led by Angelos and Cindy Frantzeskos, the team comprised
Karan Singh, Jonathan Ridout, Brian Nyabonde,
Byron Nyabonde, Bernard van Deventer, Joshua Kurensky
and Farrell Kurensky. These eight dedicated and
selfless cyclists chose to bear the harsh African sun,
blistering heat and wicked headwinds to prove their
commitment to uplifting the quality of life of MD sufferers.
Thanks to the generous sponsorship of cycling kits
by Panda Cycling, cyclists both looked and felt ready to
take on the challenge. Taking the road less travelled,
cyclists rode out from Johannessburg, passed through
Klerksdorp, Christiana, Kimberley, Travalia, Oudtshoorn,
Beaufort West, Barrydale and Hermanus and
finally reached Gordon’s Bay.
Culminating in the completion of the Cape Argus
Cycle Challenge, the cyclists rode a distance of 1600
km over the nine days. Enjoying a drink at the oddest
pub in Africa and being cloaked in the rolling mist of
Tradouw Pass, the team was convinced that cyclists
know the contours of our country best! Apart from
enjoying the scenic views and great camaraderie, the
cyclists also took time out to consider what the tour meant
to them. When a brave young MD sufferer fell seriously ill
during the tour, one of the cyclists, Karan Singh, reflected
that appreciating the daily challenges that young MD
sufferers encounter inspired him to try his best on every
ride and appreciate all the little blessings that we come
to take for granted. This shared spirit was obviously the
secret to success for this year’s tour. On completion of
the tour, team leader Angelos Frantzeskos said it had
been an honour and pleasure to be part of what could
only be described as a Dream Team.
The tour sought not only to raise awareness of this
incurable disease but also to raise funds for Muscular
Dystrophy Foundation Gauteng. Through this initiative
cyclists rallied friends, family and colleagues to raise an
impressive total of R115 000, the largest amount that
has been raised through this tour. The money raised
was utilised to purchase a single electric wheelchair and
eight sets of wheelchair batteries for nine MD patients.
Needless to say the effort was rewarded by the bright
smiles on the faces of these recipients and their loved
ones! When asked about their aspirations for the tour
next year, the Muscle Rider team said that they hoped
to grow in 2019: in the number of riders, the money they
raise and the lives that they can impact. Team members
have encouraged other cyclists to consider this ride as
part of their 2019 “bucket list” with the motivation that
it is not only an amazing life experience but also an
opportunity to be part of a humbling humanitarian
initiative to be the change you want to see in the world.
Mother Teresa once said that a life not lived for others
is not a life at all. To all the real super heroes that live
in the hearts of all those fighting muscular dystrophy,
the Muscle Rider Team thanks you for inspiring us to
be you!
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Events
An athlete with heart
By Pieter Joubert
Naomi Janse van Rensburg is a brave athlete
with a big heart. This year she decided to run
her third Comrades Marathon as an awareness
campaign.
“I ran the Comrades out of appreciation that
I can have a full and healthy life, and also
for those who can’t do it for themselves”, she
said. “I would like to make people more aware
of muscular dystrophy, motivate and inspire
people to reach out to people with muscle-wasting
conditions. The disease lies close to my heart as
I have great appreciation and admiration for
people that are affected by it.”
‘’People are part of a puzzle in someone’s life.
You might not know where or how pricelessly
you fit in, but that someone’s life might never
be completed without you in it,’’ she concluded.
Thank you, Naomi, for crossing the finish
line with a flag that said you were running for
people with muscle-wasting conditions and
in support of finding a cure. It was awesome
to see you doing so!
“I ran for the uphill children, people and families who
are affected by neuromuscular deficiencies,
seeing that it has an impact not only on the
person’s life but also on the whole family who
has to run the road too”, Naomi said. She
admires them because they try to make the best
of their circumstances.
Naomi decided to do the comrades this year in favour
of the Muscular Dystrophy Foundation Gauteng,
and said she not only wants to create awareness
of the disease but also to raise money for our
organisation to carry on with their good work.
Her hope is that she will reach out to more
people so that they can also reach out to others
affected by neuromuscular deficiencies.
Naomi’s motto for the marathon for the past three
years, “It will humble you and take all of you, and
there is no turning back”, is for her very applicable,
as muscular dystrophy sufferers have to
go through this battle on a daily basis.
19
People
Kevin Colhoun from Paisley
is taking on RideLondon for
#TeamOrange this year
“My son, Connor, has Duchenne muscular dystrophy, so
I like to make sure I take on a challenge every year for
Muscular Dystrophy UK. Since giving up football, cycling
has been my replacement and taking on tough cycling
challenges has been a great way for me to raise money.”
Kevin has taken on a number of cycling challenges,
including the 96 mile Big Belter and cycling 1200
miles from Celtic Park Glasgow to Estadio Nacional,
Lisbon, Portugal.
“The final stage of the Big Belter was pretty horrendous.
They saved the hardest part with the most hills for the
very end when you are already shattered!”
Kevin’s advice for anyone thinking of taking on the
Prudential RideLondon-Surrey 100 is:
“If an old geezer like me can do it, anyone can with
enough training. I started out at 15 miles. Just make
sure you get on your bike! It is so important to build
up mileage so you are ready for the challenge.”
Article online at: https://www.musculardystrophyuk.
org/your-stories/kevin-colhoun-from-paisley-is-taking-on-ridelondon-for-teamorange-this-year/
The Muscular Dystrophy Foundation of SA
would like to thank the National Lotteries
Commission for their support.
20
People
“Everyone made me feel so welcome”:
Sam Tisbury on volunteering for MDUK
Sam Tisbury not only ran the London
Marathon for Muscular Dystrophy UK this
year, but also volunteered at the Oxford Town
and Gown 10k, inspired by his “hero” uncle.
Sam, 29 from Brentwood, said:
“My uncle, Byron Truscott, was diagnosed with
muscular dystrophy when he was in his twenties. He
was told that he was unlikely to live past the age of
45. He is now 62 and continues to fight the battle with
muscular dystrophy. He is my hero, the kindest and
most giving man you will ever meet. He wakes up
every day with a smile and muscular dystrophy has
not dented his cheeky character.
“I wanted to challenge myself, for him, and signed up
to the 2018 London Marathon in aid of MDUK. This
was the foundation for volunteering at the Town and
Gown, as I also met a family whose five-year-old boy
has Duchenne muscular dystrophy. I knew I wanted
to do more for the family and my uncle, helping to
raise awareness and the Oxford Town and Gown was
the perfect way to start doing this.”
The 37th Oxford Town and Gown 10k took place
on Sunday 13th May, with just under 5,000 sign
ups, a record for the event, which is on track to
raise £150,000 with all funds raised going towards
Muscular Dystrophy UK.
Sam’s role on the day was as a water station lead.
This involved setting up one of the water stations and
ensuring all out thirsty runners remained hydrated
throughout the race.
“The Oxford Town and Gown 10k is the first event I have
volunteered at and hopefully the first of many! The
atmosphere was great with everyone in high spirits.
It was helped, of course, by the glorious weather on
the day.
“It felt great to play my part in raising awareness
of muscular dystrophy, but I also really enjoyed
the atmosphere of the crowd on the day and the
appreciation from the runners as they passed by.”
Sam’s advice for anyone interest in volunteering for
Muscular Dystrophy UK at a Town and Gown is:
“It’s so much fun. I did not stop smiling the whole time
and the MDUK staff made me feel so welcome. It’s
a great way to meet new people and do something
that enables you to give back. Try one and find out
for yourself!”
Article online at: https://www.musculardystrophyuk.
org/your-stories/everyone-made-me-feel-so-welcome-sam-tisbury-on-volunteering-for-mduk/
21
People
Peer support: “I’ve been able to
make new friends”
Everyone’s experience of living with a muscle-wasting
condition is different, but speaking with someone
else having a similar experience can really help.
Our peer support network can put you in touch with
other people living with the same condition as you.
You may have just been diagnosed, seen a change
in your condition, or just want to talk about what your
condition means for everyday life. …
Laurie Wallis has oculopharyngeal muscular
dystrophy (OPMD), a rare genetic muscle disorder
that typically becomes apparent between the ages
of 40 and 60. She says that peer support offered
by Muscular Dystrophy UK helped her accept her
diagnosis.
She said:
“When my OPMD was confirmed in 2003, it was
a difficult piece of news to receive. I left the
hospital without a nurse or anyone else checking that
I was alright to go. I had nobody with me, and it was
several hours before I called on a very good friend
to share the news. I told him I’d just been diagnosed
with muscular dystrophy and then just burst into
tears.
“There was no professional help or support offered
to me. That’s why I found out about MDUK, the work
they do, and the support that is available through
their regular group meetings. I have been proactive
about attending the Muscular Dystrophy UK meetings
when I can, and I’ve been able to make new
friends as a result. I don’t want anyone to be left
without the right amount of help and support when
they need it.”
There are lots of other ways to find support. You can
attend our local meetings of Muscle Groups, who
meet all over the UK to get support and advice on
conditions, find out about local services, and meet
other families. Together with our new Afternoon
Teas, they are a great chance to meet other people
near you. …
And if you are young disabled person, our 700-strong
Trailblazers network is a great way to meet other
people, and join our campaigns and meetings. As a
first step, you can join our busy group on Facebook
now.
Article online at: https://www.musculardystrophyuk.
org/your-stories/peer-support-ive-been-able-tomake-new-friends/
22
Living life
to the full
People
By Kerry Walsh”
At the end of grade 6 we decided to start looking
at possible high school options. It didn’t seem
to be a complicated process, but nothing is as
it seems, and it was going to be one of my life’s
defining moments. We tried every public and private
school in our area and every one of them said no.
We were left with two options that were not close
to home or in our budget. I ended up going to
Summit College, which was extremely accessible
and accommodating. I managed well in high school.
The experience of needing to attend a school
exceeding our budget led to the start of The
Kerry Walsh Trust, which we used to host
fundraisers towards meeting my medical and
educational requirements. Over the years we have
had many successful fundraisers, including Barnyard
fundraisers, the 94.7 ride for a purpose, and charity
golf days. The fundraisers are now aimed at also
being able to give back, as we have received so much.
Life is a beautiful gift and it’s our responsibility to
live it to the full, and that is what I plan on doing!
My name is Kerry Walsh, and I was born on 22
October 1997 along with my fraternal twin. During our
first year my parents realized that I wasn’t developing
like my sister was. I was taken to the doctor and
diagnosed with low muscle tone. After months of
physical therapy there was no improvement. I was then
sent for a muscle biopsy in my neck, which showed
that I had SMA (spinal muscular atrophy). I was given
the life expectancy of 5 years, and my parents were
told to take me home and enjoy the time we had.
That plan didn’t work for us because we were not
just going to give up! I am turning 21 this year and
not planning to slow down anytime soon. As a family
we take every day as it comes and always hope for
the best.
As a child I coped quite well. My parents sent me
to a mainstream public school, Bryandale Primary. I
have a very low immune system so was often ill with
pneumonia. This led to me missing a lot of school,
but I always managed to catch up.
At the end of matric I wasn’t sure what I wanted to
do with my life, so I decided to take a gap year and
figure out my place in this world. In my gap year I
had a “never say no” attitude. I was going to try
everything that I could. It was at that time that I
started my motivational speaking campaign called
@KmotivationSA. I started with motivational
speaking in high schools to encourage students
to live life to the fullest, take advantage of their
opportunities and love all kinds of people because
everyone has a story but some are just a little more
noticeable. I grew so much through doing these
speaking engagements, and I gained a lot of
exciting opportunities from getting my name and
story out there. I started a Twitter rating system so
that people with disabilities could know the places
to go that were the most accessible. I am extremely
passionate about changing the level of accessibility
in South Africa because everyone deserves to go out
without fearing that premises are not accessible.
I was an ambassador for the 2016/17 Nappy Run
(a campaign to raise awareness about children with
disabilities) and have been nominated as one of the
2017/18 Margaret Hirsch Women in Business.
23
People
My Story
Pictured: Sharon,
Stephen and Jason
Howieson
Jason Howieson
My name is Jason Howieson, and I was born on
11 March 1991. I was diagnosed with Duchenne
muscular dystrophy when I was 8 years old. The
first doctor I went to could not tell what was wrong
with me until my mom found a specialist who
diagnosed me with muscular dystrophy. I then went to
theatre where a muscle biopsy was performed and
Duchenne muscular dystrophy was diagnosed.
When I failed grade one I was sent to a special
school called Open Air School. A couple of years
later, when I was 12, I went to hospital to have my
Achilles tendons in my ankles lengthened, as I had
developed dropped foot. I spent a few days in
hospital, where the physiotherapist tried to get me to
walk again, but I couldn’t. My dad carried me around
and I used my gran’s wheelchair for a few weeks.
After my 13th birthday I got a manual wheelchair
from the Muscular Dystrophy Foundation KZN at
a ceremony at Open Air School. When I was 15, I
started using an electric wheelchair that the school
loaned me for a few years until my aunt got me a
used electric wheelchair through the church where
she worked. For a couple of years I battled with
depression because I was scared of dying young
until my neurologist gave me hope by telling me
I could live for 40 years. When I was 19 he sent
me for a couple tests and then told me I had an
enlarged heart, and I was put on heart medication.
I try to be positive even when sometimes it is hard.
With the love and support of my family, friends
and church I am managing my condition. I like
modified cars on TV shows and playing video games
and watching TV series and movies and reading
comic books. I used to be able to draw but now it is
becoming hard because my hand gets tired.
My favourite quote is: “God grant me the serenity
to accept the things I cannot change, courage to
change the things I can, and wisdom to know the
difference.”
I would like to thank the Muscle Riders and
Muscular Dystrophy Foundation Gauteng for
assisting me with a motorised wheelchair from CE
Mobility.
24
The MDF has
my attention!
By Jason Greer
I am not a cyclist. Yes I’ve ridden before and know how
to ride, but I am not a cyclist. However, I am a runner.
I enjoy being outside and hitting the road with nothing
but my running gear and determination to not walk at all
during my run. It’s not always easy and is harder than
cycling … I’ve got no wheels to freewheel on the downhills,
and it takes me a lot longer to run 10 km than to cycle it.
I tell you this because I do sometimes take my legs for
granted, and although I don’t cycle I still support the cause
of the MDF by running for those who can’t.
My family aren’t runners, or cyclists for that matter. My
5-year-old daughter, however, is now keen to keep me
company on a little 2 km jog that we do sometimes. My
son, who’s 3, just wants to run around and destroy things,
as opposed to keeping in a relatively calm state of mind
as a runner would do when out for a jog. My wife, well,
she keeps active enough by teaching dance. She’s a world
champion dancer who owns a dance studio called iDance,
in Weltevreden Park, and she teaches four times a week.
No, she has still not taught me how to dance, but I think
that this has something to do with my two left feet, which
are good only for running, on the road and after my kids.
As a TV presenter for the past 12 years, I’ve had the
opportunity to take part in hundreds of different events and
causes throughout South Africa, but it’s the MDF that caught
my attention. The nature of the organization as well as the
members and enthusiastic support garnered by others shows
that the MDF really does care about those individuals who
cannot use their muscles to run, cycle, walk or even eat. I was
present at the handover of two wheelchairs last year by the
MDF, and it was such a moving moment watching the two
children take hold of their brand new wheelchairs, thanks
to the continued support of the MDF and its sponsors.
Let’s continue the work together!
MDF Gauteng would like to thank Jason Greer for being
our ambassador and always being there to lend a helping
hand.
25
People
My journey
from powerless
to powerful
By Dave Lukas,
Lake in the Hills, Illinois
Three years ago, my life was changed forever.
Three years ago, I walked out of a doctor’s office,
got in my car and sobbed. Three years ago, my
image of what my future looked like was shattered.
Today, my life is still changed forever. Today, I leave
doctor’s offices feeling confident and grateful.
Today, my image of my future looks uncertain, but
there is so much hope.
Three years ago today, I was diagnosed with
facioscapulohumeral muscular dystrophy (FSHD). It
took me a long time to remember how to pronounce
it, spell it, and for my phone to figure out it wasn’t
misspelled. It’s a rare form of muscular dystrophy I
was born with, a genetic disease. My body produces
a protein called DUX4 and this protein destroys and
kills muscle. And like all forms of muscular dystrophy,
it’s a progressive disease. I will keep losing more
muscles, and will not get them back. There is no cure.
But it’s not like the muscular dystrophy you know
from the Jerry Lewis telethons. FSHD is a much
sneakier disease. Most of us get diagnosed in our
mid- to late 20s after years of having something just
a bit “off” about our bodies that no one seems to be
able to explain. Most doctors are mystified.
It’s a slow disease that gradually robs people of
muscles in their face, shoulders, upper body, and
legs. It takes away things like being able to reach
up and wash your hair, being able to get dishes
down from the top shelf, the ability to smile, and
other activities most people take for granted. It’s
a disease people learn to live with by making a
series of adjustments to do the random everyday stuff.
For many of us, it progresses to legs and feet and
begins to weaken and kill the muscles there. About a
quarter of people with FSHD end up in wheelchairs.
Fun stuff.
But those are the facts. Thankfully they aren’t my
reality now, but they are for so many of my friends
and others with our disease.
With hindsight, I see that my journey started in my
mid 20s, when I noticed I couldn’t raise my arms
completely over my head. Fast forward 16 years
and my wife (fiancée at the time) kept saying my
shoulders just weren’t right. The way I took my shirt
off wasn’t right. The way I reached for things up
high wasn’t right. So I saw a local orthopedic doctor
and he saw the oddities and thankfully paused long
enough to say, “this isn’t right, I know a doctor you
should go see, she’s a friend of mine and she might
know what this is.”
Enter Dr. Charulatha Nagar, a neurologist at
Northwestern Medicine. Even typing her name
makes me cry with gratitude for this woman. She
is simply the best doctor I have ever come across.
Even my wife, who knows doctors, agrees with me.
She saw me, took a look at me, asked me to do
a bunch of random stuff (walk on my heels, push
my hand away, purse my lips, to name a few) and
then sent me for more blood work than I thought
was even possible. Even the tech was surprised at
the sheer volume of tests Dr. Nagar wanted to run
and went to grab extra vials. About a million needle
and finger pricks later, Brandi and I walked out still
unsure what was going on, but confident in Dr.
Nagar.
26
People
A few weeks later, we had a return visit to go over
the results of these tests. That was today, three
years ago. She informed me that my muscle
protein levels were eight times higher than normal –
meaning my muscles were screaming out that they
were in trauma. That combined with my physical
examination, Dr. Nagar informed me I had
facioscapulohumeral muscular dystrophy. She
needed to confirm with a genetic test, but she
had studied and worked with patients with
FSHD in medical school, so she knew the
disease well and was confident I had it. A
later genetic test would confirm my diagnosis.
I really don’t remember what else we talked about in
her office, but I remember walking out to the car with
Brandi and feeling overwhelmed with uncertainty. We
got back into my car and I started sobbing! What
was my life going to look like now? How soon would
I lose all the muscle in my body? Would I die
early? What if I couldn’t see my kids grow up? What
if I became a burden on my future wife? She had
already lost one husband to a rare disease. Why does
she have to care for another? How was that fair?
Those and many more questions swirled and
bounced in my head for what seemed like months.
I really struggled to identify as someone who had a
disease that would affect me for the rest of my life. I
struggled with telling people. I didn’t want people to
treat me differently. I didn’t want people to look at me
like I was sick or broken. I kept my diagnosis hidden
from everyone except family and close friends.
Which is where everyone else came in
somewhere along the path. They either heard my
diagnosis from me or heard it from my parents or
read about a random post here on Facebook. But
not from me directly. And that’s not fair. I truly
struggled with telling people and struggled to
wear the identity as someone who has muscular
dystrophy. It was a journey to get to the point I’m at
today.
Fast forward three years and where am I? I’ve already
participated in one clinical research study and I’m
about to start another. I immediately became involved
in the biggest and most influential charity and research
non-profit for my disease, the FSH Society. And now
I’m taking steps to formally establish a national
chapter through the Society here in the Chicagoland.
I have a team of doctors and medical professionals
I trust 100 percent and it brings tears of gratitude
just to think of them. Which then evokes more tears
cause I’m one of the lucky ones who didn’t have to
go through 20 doctors to figure out what I had. I can’t
tell you the number of stories I’ve read about people
with FSHD who have gone through doctors upon
doctors and they still don’t have a doctor who knows
how to treat them. I don’t have the words to express
my gratitude for people like Dr. Nagar. Hence all the
grateful, grateful, grateful tears.
There is hope on the horizon for a cure, as well as
treatments to stop the progression of the disease.
We know what causes the disease, which is a huge
step. There are so many teams all over the world
that are working on cures right now. And with the
FSH Society leading the way with both their awareness
efforts and advancing of research grants, I’m
confident we’re going to get there.
The Society has a goal of having a disease-modifying
drug on the market by 2025 and is confident this
is achievable! To think that my world was rocked in
2015 and ten years later we could have a cure or
progression stopper for my disease… holy #%&!
This disease has taught me to be grateful for the
little things. There are so many things I’m still able to
do (like run) that so many others with FSHD cannot.
There may come a point in my life when I can’t do
those things anymore. So I do them while I can to the
best of my ability.
This isn’t a quick story and it’s one I’ve needed to
tell for some time. It’s important because while this
disease doesn’t define me, it’s a part of me and my
story.
Hard challenges are put in front of us all the time
and we have the choice to look at them as obstacles
or fuel to propel you further on your path. My FSHD
diagnosis laid me low for a while. It left me on the
side of the road beat up and broken. But I stood up,
dusted myself off, wiped away the tears, and used
this diagnosis and this disease as fuel to make me
a better person. This disease won’t break me. I’m
stronger than FSHD.
Three years later, I find myself with a greater sense
of power and purpose with FSHD. I may not know
what lies ahead for me, but all I have to do is look
to my wife and my three children to remember who
else I’m fighting for. All I have to do is connect and
reach out to all the friends I’ve met who have FSHD
to remember the collective strength we have.
Going from powerless to powerful has been quite the
journey. I’m not broken, I’m not helpless.
I am humbled, honored and encouraged.
I AM stronger than FSHD.
Article online at: https://www.fshsociety.org/2018/05/
my-journey-from-powerless-to-powerful/
27
Research
The following five articles are from the website of Muscular Dystrophy UK.
Update on Myonexus’ LGMD gene therapies
By Jenny Sharpe
Published 25/06/2018
Myonexus Therapeutics gave an
update on its LGMD gene therapy
programmes at Sarepta’s recent
Research and Development (R&D)
day. The two companies formed a
partnership in May.
Myonexus are currently developing
gene therapies for five types of LGMD
(see below). All of these share a similar
design, where the desired gene is
packaged into a type of adeno-associated
virus (AAV). This shared design
means that learnings from one study
will help to inform another.
LGMD 2E (MYO-101)
Myonexus plan to initiate a phase
1/2a trial at Nationwide Children’s
Hospital, USA, testing MYO-101 in
Q3 2018. This will be a randomised,
placebo controlled, double blind
trial recruiting nine participants.
The trial will also have a ‘crossover’
design, where all participants
assigned to the placebo will get to
have the gene therapy at some point.
LGMD 2D (MYO-102)
Following positive results from a
small safety trial completed in 2017,
Myonexus are planning to test MYO-
102 in a phase 1/2a trial at Nationwide
Children’s Hospital, USA. This will
be a randomised, placebo-controlled,
double blind trial recruiting nine participants.
The trial will also have a
‘crossover’ design, where all participants
assigned to the placebo will get
to have the gene therapy at some point.
LGMD 2C (MYO-103)
Myonexus are currently testing
MYO-103 in preclinical safety studies
using mice. The company is expecting
to meet with the US Food and Drug
Administration (FDA) very soon to
discuss its plans for MYO-103.
LGMD 2B (MYO-201)
MYO-201 is currently being
evaluated in a phase 1 trial at
Nationwide Children’s Hospital,
USA, where it was injected into the
feet of six participants (intramuscular
delivery). Myonexus reported that,
so far, MYO-201 appears to be safe
and can increase dysferlin protein
levels. The company is planning a phase
1/2a trial testing intravenous delivery
of MYO-201(an injection into the
bloodstream, rather than the muscle).
LGMD 2L (MYO-301)
Myonexus is currently testing MYO-
301 in a mouse model of LGMD 2L.
This will help to determine how well
it works and whether it is safe to be
tested in humans in future.
Article online at: https://www.musculardystrophyuk.org/news/news/
update-on-myonexus-lgmd-gene-therapies/
Positive interim results from Duchenne gene therapy trial
By Sofia Nnorom
Published 20/06/2018
Sarepta Therapeutics has announced
positive preliminary results from its
ongoing Duchenne gene therapy trial at
the company’s R&D day.
28
The U.S. trial is assessing AAVrh74.
MHCK7.microdystrophin – an adeno-associated
virus carrying a shortened
version of the dystrophin gene
(micro-dystrophin) into the body. The
first trial participant received the therapy
in January 2018 and since then
three more boys have been treated.
The company released interim
results based on the first three treated
children. Muscle biopsies taken 90
days after the treatment showed that
all three boys had a significant increase
in the dystrophin protein. In addition,
all of them had a significant reduction
in Creatine Kinase (CK) levels – a
marker for muscle damage. So far there
have been no serious safety concerns.
In a press release, Dr Jerry Mendell, the
study’s principal investigator, said:
“I have been waiting my entire 49-year
career to find a therapy that dramatically
reduces CK levels and creates significant
levels of dystrophin. Although the
data are early and preliminary, these results,
if they persist and are confirmed
in additional patients, will represent
an unprecedented advancement in the
treatment of DMD.”
We are delighted by this news and
Research
look forward to seeing how the trial
progresses – we will keep you updated.
Article online at: https://www.musculardystrophyuk.org/news/news/positive-interim-results-from-duchennegene-therapy-trial/
Published 24/05/2018
Latest results from MTM gene therapy trial
By Jenny Sharpe
Audentes Therapeutics has provided
an update on its ‘ASPIRO’ gene
therapy trial. The study is evaluating the
safety and efficacy of AT132 in young
children with X-linked myotubular
myopathy (X-MTM).
Since releasing initial data from
ASPIRO, the company has treated
three more children with AT132. So
far, six children have been treated and
monitored for up to 24 weeks.
The majority of treated participants
have shown improvements in neuromuscular
and respiratory function.
One child is now able to stand without
support and no longer needs to use a
BiPAP ventilator.
Dr Suyash Prasad, Senior Vice
President and Chief Medical Officer at
Audentes, said in a press release:
“We continue to be highly encouraged
by the profile of AT132 observed
to date in the ASPIRO study. Patients
treated in the initial cohort continue to
make advancements in neuromuscular
and respiratory function, highlighted
by the fact that our earliest treated
patient has now been ventilator
independent for over eight weeks.”
Whilst the efficacy data is promising,
there have been a few safety
concerns. An independent committee
will now review all of the data and advise
Audentes on testing higher doses
(dose-escalation). The company
expects to provide an update on its
plans in the third quarter of 2018.
Article online at: https://www.musculardystrophyuk.org/news/news/latestresults-from-mtm-gene-therapy-trial/
Sarepta and Myonexus form partnership
By Jenny Sharpe
Published 04/05/2018
Sarepta Therapeutics has announced
it is partnering with Myonexus
Therapeutics – a gene therapy company
developing potential treatments
for limb girdle muscular dystrophy
(LGMD). Myonexus’ pipeline
includes five different LGMD gene
therapies, three of which are currently
being evaluated in clinical trials.
Sarepta is developing potential therapies
– including gene therapies– for
Duchenne muscular dystrophy. This
new partnership between Sarepta and
Myonexus brings together expertise
that will help to advance LGMD gene
therapy research.
Article online at: https://www.musculardystrophyuk.org/news/news/sarepta-and-myonexus-form-partnership/
FSHD drug receives fast track designation
By Sofia Nnorom
Published 01/05/2018
Acceleron Pharma has announced
the US Food and Drug Administration
(FDA) has granted Fast Track
Designation to ACE-083, for the treatment
of facioscapulohumeral muscular
dystrophy (FSHD). This status will
help speed up the development and
regulatory review process of the drug.
ACE-083 is currently being evaluated
in a Phase 2 trial in individuals with
FSHD.
Article online at: https://www.musculardystrophyuk.org/news/news/fshddrug-receives-fast-track-designation/
29
The View from Down Here
The Other Corner, Sedgefield
By Hilton Purvis
In an earlier edition of our MDF Magazine I wrote a review
of the Guba's De Hoek B&B in the winemaking region of
Robertson, which offered not one but two wheelchair accessible
rooms for disabled travellers. This edition allows me to
review yet another establishment which provides additional
accommodation for us. This time it is in our favourite Garden
Route town of Sedgefield, where Lilith Seals offers not only
the accessible house "The Kingfisher Corner" but also the
appropriately named "The Other Corner" situated just next
door!
Are we seeing the beginnings of a movement here folks?!
(Cue Arlo Guthrie's "Alice's Restaurant".) What a pleasure
to have a choice of accessible accommodation. What an even
greater pleasure it would be for us to find this movement taking
hold and spreading to other tourist destinations. Quite
clearly it makes economic sense since both Guba's De Hoek
and The Kingfisher Corner have been running successfully
for many years.
We are growing to like Sedgefield more and more with each
visit, and having an establishment like The Other Corner
makes visiting so much easier! The location of the town
on the Garden Route provides a good base from which to
explore the regional coastline, as well as further north to
Knysna and south to George. As mentioned in my previous
article, it is also home to the Wild Oats Farmers Market held
every Saturday morning. It is a large, busy and active genuine
farmers market providing fresh produce, food, beverages,
arts and crafts. The market is accessible with assistance (the
car guards will direct you to parking places which are close
to the action) provided you can manage undulating grass and
hard ground under your wheels. I have seen more than one
motorised wheelchair trundling around the market on previous
visits, so clearly it is possible even for quite profoundly
disabled individuals.
Another Sedgefield institution worthy of a visit is the famous
fish shop "Mr Kaai" on the Main Road, just next to the one
and only traffic robot in the town. We enjoyed, without doubt,
the finest seafood platter we have ever eaten at Mr Kaai, sitting
outside the restaurant underneath the canvas awning.
You really cannot drive through Sedgefield without stopping
in at Mr Kaai! It's as simple as that.
But before this article makes a right-hand turn into the food
and beverages department, let’s return to the task at hand,
which is to tell you about wheelchair accessible The Other
Corner.
Built on a hillside overlooking the Sedgefield estuary, The
Other Corner is a large and spacious wooden bungalow located
just below The Kingfisher Corner and just above a lower
house which serves as the home of the owner. Depending on
one's level of mobility it might be worthwhile checking with
the owners which unit would be most suitable, since each
offers access and amenities which are slightly different. The
Other Corner is accessed via a gentle ramp and provides a
large open living area, two bedrooms, an accessible kitchen
(which is most unusual) and two accessible bathrooms, one
with a shower and one with a bath.
The view from the veranda provides a spectacular panorama
of the estuary which will have you spending a lot of time
finding reasons to be sipping gin and tonics on lazy summer
afternoons!
The Kingfisher Corner / The Other Corner
36 Kingfisher Drive, Sedgefield
Tel/Fax: +27 (0) 44 343 1715
Email: lseals@arms.co.za
Web:
https://www.sa-venues.com/visit/theothercorner/
http://www.capestay.co.za/kingfishercorner/
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Prof Amanda Krause, MBBCh, PhD MB BCh,
Medical Geneticist/Associate. Professor.
Head: Division of Human Genetics.
National Health Laboratory Service (NHLS)
& The University of the Witwatersrand.
Please e-mail your questions about genetic counselling to national@mdsa.org.za.
Are neuromuscular disease therapies improving?
It seems that every day when we open a scientific journal, or even a newspaper, there is an article
referring to a new ‘cure’ for a genetic disease. Many of these are for neuromuscular diseases. The
last year or so has seen licensing of a new drug for spinal muscular atrophy patients and a number
for Duchenne muscular dystrophy (DMD) patients. In the last month there have been new articles raising hope for a DMD drug trial
being reinstated after some adverse reactions in one of the first few patients on the trial and a new approach to a drug therapy for facioscapulohumeral
dystrophy (FSHD).
There is no question that we are entering a new era in therapies for genetic diseases. Rapidly advancing technologies are being developed which allow
us to understand disease at a much finer level. Once we have this level of understanding, we can develop novel approaches to try to reverse the disease
process. New techniques potentially allow us to edit faulty genes and replace them with normally functioning copies, add missing proteins into people’s
cells, block certain unwanted production of protein in cells, and so forth.
Importantly, the development of new therapies is a long and challenging process. It may take many years from the first understanding of a potential
therapeutic approach to the development of a drug. Before any new drug can be marketed it has to go through many levels of safety and efficacy
checking. Many drugs that are developed never get to the end of these tests, as they are shown either to be harmful or to have no effect. They may also
have other effects, which could not initially have been predicted. These tests are often known as phases of a drug trial. A drug has to be shown to have
significant beneficial and therapeutic effects but cannot have such severe side effects that it makes the individual sicker than if they were without it.
The risks and benefits have to be carefully weighed. Trials have to be done on large groups of patients, so genuine scientific effect can be proven – this
is always a challenge for rare diseases as recruiting enough patients can be difficult. Also, the regulatory authorities usually want trials done in adults
rather than children first, a real challenge for childhood-onset genetic conditions.
Phase 1 trials usually test the drug on healthy volunteers to try to determine the effects of different dosages and side effects. In Phase 2 the drug is given
to a small group of patients to see whether it has any positive effect. Usually some patients are given the real drug and others a placebo. If effects seem
positive, then a Phase 3 trial tests the drug over a longer period on a bigger group of patients for safety and efficacy. Phase 3 trials are still relatively
short, six months to two years, and so some subtle effects may be missed and long-term benefits and side effects may not be observed. These are often
only identified once the drug is marketed. From a patient perspective, new drugs offer new hope, but trials can be very frustrating for patients waiting
for new therapies to appear.
Doctor’s
IGNITE DMD is a drug trial aiming to test the safety, tolerability and effectiveness of a drug called SGT-001 in ambulatory and non-ambulatory DMD
patients. The trial uses a virus to try to get a modified version of dystrophin into muscle cells of boys with DMD. This is the protein usually missing in
DMD. Importantly this drug is different from others developed for DMD in that it is not dependent on the exact causative mutation and therefore has
potentially broader scope to help more people with DMD. Drugs currently available are suitable for use in only a small percentage of boys with DMD.
The trial was halted for over a year as there were some adverse reactions, and boys now on the trial have to get additional medication to prevent or
reduce these reactions. The trial expects to get some results in 2019.
The second important news release refers to researchers deepening their understanding
of FSHD. The mechanism causing FSHD is extremely complex and still relatively poorly
understood. An improved understanding of a number of other proteins that are involved in
controlling the critical protein, DUX4, have been discovered. These may be easier to regulate
than the key protein itself and may be targets for therapy. No drugs have yet been developed,
however, so this does not offer immediate changes to FSHD therapy.
To conclude, we are in an era of rapid knowledge and technology development. This offers
enormous hope for improved understanding of neuromuscular disease and potential for the
development of new and innovative therapies. We are likely to see many new drug trials, with
some becoming effective new therapies in the not too distant future.
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Sandra’s thoughts on…
Beating the winter “blues”
By Sandra Bredell (MSW)
Winter is not a season enjoyed by all people. Some
people get anxious, as it can be a challenge to stay
warm and well nourished. For some, it just is a grey,
miserable time making them to feel sad or depressed
and to lack energy. In contrast, some people really enjoy
wintertime, which can be understood, looking at areas
like Sutherland, Ceres and the Matroosberge, where
snow paints a winter fairytale picture. We are grateful
for the snow, as it provides water to the drought-stricken
areas. Although winter is a season to be enjoyed, a lot
of people seem to look at it as a season to be endured.
Let us look at some things we can do to gain a more
positive wintertime mindset.
1. Do things in winter that you cannot really do in
summer
Enjoy hot beverages like hot chocolate and relax by the
fire wearing nice snuggly clothes. “Focus on the joys of
winter”, says motivational coach Robert Ashton, author
of The life plan: 700 simple ways to change your life for
the better (Foster, 2018).
2. Focus on getting more light
There seem to be a lot of truth in light-therapy, as it has
a positive effect on the mood. So, open those blinds
and curtains of your house and let the light in. Sit closer
to the window and embrace the sunlight. Do not sit indoors
all day; try to spend some time outside the house,
even if just to have your coffee on the porch.
3. Continue to do your exercises
Continue with exercises, stretches and massages – this
works like a natural antidepressant. Do not stop what
you love to do in winter.
4. Wear clothes that are appropriate to winter
Invest in clothing that keeps you warm, dry and cosy.
Rather wear bright colours than brown, grey and black
as this can also lift your mood. According to Leatrice
Eiseman (in Brucculieri, 2017), there seems to be a link
between colours and emotions. Bright and warm colours
tend to add to a happy feeling.
5. Listen to uplifting music
Listen to your favourite music as often as you like.
Cheery music improves the mood. Listen to upbeat
tunes while doing exercises and stretches. When you
want to listen to music, you need to find the right song
for what you need in that specific moment. According to
Bergland (2012), you need to ask yourself: "Does this
song make me feel like the glass is half empty or full?
Does this song make me feel energized or depressed?
What state-of-mind do I want to be in right now?"
6. Staying hydrated during winter
Even in winter it is important to stay hydrated, and sufficient
water intake is beneficial for your body, skin and
muscles. Cold air contains less moisture than warm air.
One does not feel as thirsty in winter and tends forget to
drink water. Urination increases in winter and therefore
the intake of water is necessary.
7. Healthy vs comfort food
Winter comfort food is yummy, but in moderation. Good
nutrition and a healthy body and mind go hand in hand.
Planning your meals is very important, especially at
those times when you just feel like snuggling up under
a warm blanket and are tempted to rely on take-aways
and comfort food. Do not cut down on fruit and vegetables,
as your body needs the vitamins they provide.
Invest in healthy soups and stews, which can be frozen
in portions and easily be warmed up. The correct diet
can also help to raise serotonin levels. Adding one of
the following serotonin boosting foods to each of your
meals might just do the trick: bean sprouts, asparagus,
sunflower seeds, cottage cheese, pineapple, spinach
and bananas. These are listed by Dr Caroline Longmore,
author of The Serotonin Secret (Foster, 2018).
Also add nuts, seeds and green leafy vegetables to
your meals as these are rich in magnesium and help
promote sleep. When you feel like having fries, rather
opt for sweet potato chips. During the colder months, up
your intake of fish, eggs and cheese, which are rich in
vitamin B12. Tomatoes, citrus fruit and red peppers are
good choices as they contain a lot of vitamin C.
8. Catch up on reading
This is a great time to catch up on that reading you have
planned to do for a while now. Snuggling up and reading
a book is a perfect pastime for the cold winter days.
Make a list of which books you would like to read during
winter. This adds to the excitement and makes you
look forward to the opportunity. You could pick themed
books, for example with a winter or summer theme or
linked to a specific topic.
9. Reward yourself
Plan something you will enjoy either as a treat for yourself
or with friends. Go and see a movie, attend a concert,
visit a restaurant to lift your mood when you start
to feel down. If you cannot make all of this come true
this winter, start a wish list of things to do for next winter.
10. Remember to laugh
“Laughter is the sun that drives winter away from the
human face” (Victor Hugo, quoted in Shein, no date)
References:
Bergland, Christopher. 2012. “The neuroscience of music,
mindset, and motivation.” Psychology Today, 29 December.
https://www.psychologytoday.com/us/blog/the-athletesway/201212/the-neuroscience-music-mindset-and-motivation.
Brucculieri, Julia. 2017. “How adding bright colors to your
wardrobe can help you beat the winter blues.” HuffPost, 20
November. https://www.huffingtonpost.co.za/entry/bright-colors-beat-the-winter-blues_us_5a0f1373e4b0e97dffed0723.
Foster, Helen. 2018. “10 ways to beat the winter blues.” Psychologies,
14 January. https://www.psychologies.co.uk/10-
ways-beat-winter-blues/.
Shein, Elizabeth. No date. “10 cool ways to beat the winter
blues.” CTRI – Crisis & Trauma Resource Institute. https://
blog.ctrinstitute.com/10-cool-ways-beat-winter-blues/.
Whiting, Kate. 2017. “Healthy winter diet: The best foods to eat
to stay well this winter.” BT. http://home.bt.com/lifestyle/health/
healthy-eating/winter-diet-to-stay-healthy-11364216640411.
Cape Branch
Cape Town Aquarium Outing
On Wednesday, 16 May 2018 our Duchenne muscular
dystrophy children from Astra School enjoyed a fun
day at the Cape Town Aquarium. As a group we got
to explore the various exhibitions and even to watch
feeding times of the penguin colony, stingrays and
turtles! What a joy it was to enjoy this lovely day
together.
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Cape Branch
Adult Support Group
This last quarter we have had some wonderful Adult
Support Group meetings and are so thrilled when
our members find time to meet once a month. We
enjoyed a wonderful coffee morning at the Stay Easy
Hotel, where members had the opportunity to catch
up and relax.
Additionally, a meeting dedicated to information about
physiotherapy and recommended stretches for
muscular dystrophy was well attended and thoroughly
enjoyed. It was wonderful to share, learn and discuss
information on this topic.
Physiotherapy session at the branch
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Cape Branch
Winter Warmer Drive
Winter has arrived again, and with it the
cold! Many thanks to the Rotary Club for
donating a number of blankets and beanies.
These have been distributed to a number of our
affected children and sent to Astra School to help
keep the hostel toasty and warm.
This lovely donation also allowed us to hand out
blankets to some of our adult members at our
Stay Easy Hotel coffee morning outing.
Pictured: Wally Baird, Win van der Berg and
Colin Jacobs
IN MEMORIAM
Peter van Eck
It’s always too soon to say goodbye. It is with very heavy hearts that we
say goodbye to Mr Peter van Eck, who sadly passed away on 13 May
2018. Our sincere condolences to his family. He will be deeply missed
at our Adult Support Group meetings, and his brave and kind nature will
never be forgotten.
Dennis Trotskie
It is with great sadness that we bid farewell to Dennis Trotskie, who
passed away on 28 April 2018. Our sincere condolences to his family.
We will dearly miss this beautifully determined and kind young man.
Your family is in our thoughts.
Clayton Smith
Our deepest condolences to the Smith family on the passing of their son, Clayton, on 1 April 2018.
Your family is in our thoughts.
Condolences to family and friends. Ed.
Gauteng Branch
Art From The Heart
Are you an art lover? Do you need something for that open spot on your wall?
Art from the Heart is your answer!
We have many art & décor items for sale and all funds go towards helping
those with muscle-wasting conditions.
Request our catalogues from Robert Scott at mdfgauteng@mdsa.org.za or
call us at 011 472 9824.
We would like to thank Supreme Mouldings (Pty) Ltd for their amazing
contributions towards this project.
Pictured: Mr. Scott Hansell, Group Financial Manager, Supreme Mouldings
Thank you, DStv for airing our advertisements about
muscular dystrophy.
We are most grateful for your support.
Photography/Videography
36
• Annual reports • Golf days
• Awards
• Entertainment
• Conferences • Team building
• Product launches
info@strikeaposephotography.co.za www.strikeaposephotography.co.za
Call: Dee-Ann 082 412 9650
Gauteng Branch
Handover of motorised
wheelchair to
Jason Howieson
A motorised wheelchair with a specialised backrest
was purchased and presented to Jason Howieson
at the Brewers Fish & Grill restaurant in Rietfontein
on Sunday, 15 April 2018. His mother, Sharon, and
brother Stephen were also present. Certificates of
appreciation and trophies were also presented to
the group of cyclists who rode from Johannesburg to
Cape Town to generate awareness and funds.
Kevin Nkwenya says
thank you
I would like to thank the Rachel Swart
Fund and the Muscular Dystrophy Foundation
Gauteng, for my brand new
motorised wheelchair. It is now easier
for me to move around at home and
around the community I live in.
I am very happy and grateful for the
support. Thank you.
37
Gauteng Branch
Muscle Riders 2018
(Ride For A Purpose – ride for those who can’t)
This is the seventh year that we will be participating in the Telkom 947
Cycle Challenge. The cycle challenge will take place on Sunday,
18 November 2018 at Riversands Commercial Park. Our Muscle Riders
are a group of cyclists who care for people affected with muscular dystrophy and
want to make a difference in the lives of those less fortunate than they are.
Please ask family and friends who cycle to ride for us. We would like to get more riders who can
help generate awareness and much-needed funds. We rely on the support of individuals and companies to support us
so that we can give our members the assistance they need. We wish to thank everyone who rode for us last year and is
supporting us again this year.
Website: www.muscleriders.co.za
Facebook page: www.facebook.com/mdfgautengcycle
Should you be interested in riding for us or helping us to make this event a success, please let us know so that
we can provide you with further information.
Thank you, e-TV for airing our advertisements
about muscular dystrophy.
38
We are most grateful for your support.
Huge Thank-You to
National Lottery
KZN Branch
We at the Muscular Dystrophy Foundation, KZN
Branch express our sincere gratitude to Lotto.
Because of their generous support the following was
made possible:
Several of our affected members received new
motorised and manual wheelchairs. They were all
happy, excited and thankful to Lotto for making this
all possible.
Thank you, Lotto!
Pictured: Debbie Goldstone, Sandy Smith
(grandmother), Kevin Smith (grandfather), Reece
Smith
Pictured: Razina Fayers (mother), Uwais Fayers,
Raj Mahadaw
Pictured: Back: Zuziwe Cele (physiotherapist at
Mason Lincoln School), Debbie Goldstone. Bottom:
Mondli Cele and Menzi Khathide
Pictured: Kuben Pillay (father), Noel Pillay, Michelle
Pillay (mother), Kayden Pillay (brother) and Kaylin
Pillay on wheelchair
Pictured: Raj Madadaw, Rowan Dewnunen on
wheelchair, Kandice Gounder (mother)
39
Pictured: Hambasani Dlamini,
Gertrude Dlamini (mother)
Pictured: Veronica Houghton and
son, Hewitt Singh
Pictured: Zuziwe Cele
(physiotherapist at Mason Lincoln
School), Debbie Goldstone,
Mondli Cele and Menzi Khathide
Dhruv Dukhicall gets to be
mobile with big smiles
On Saturday, 12 May 2018, Dhruv Dukhicall, aged
8 and affected with spinal muscular atrophy (SMA),
received his first motorised wheelchair. He was all
smiles and ecstatic when we placed him in his new
wheelchair.
A huge thank-you to his sponsor for generously
offering to purchase the motorised wheelchair. It is
most appreciated.
Pictured: Mukesh Dhukicall, Shakti Dhukicall, Rajesh
Balram, Neil Goldstone, Front: Dhiyana Dhukicall and
Dhruv Dhukicall (in wheelchair)
A mother who was God’s
love in action
Born with spinal muscular atrophy, never walked a
day in her life, but a tower of inspiration to those
whose lives she touched – my mother, Veronique
Hilary Connor.
A go-getter, strong willed, always smiling no
matter what, lover of God, lover of people and
the outdoors, especially the North Beach,
Durban area. She was a woman of great
determination and strength, definitely ahead of her
time, with immense knowledge and many talents,
who made people see the person not the wheelchair.
40
She loved reading, cooking, sewing, music and
chatting to all she met.
Mum greeted us each day with a big smile, a smile
that was infectious, a smile that warmed the hearts
of those who did not even have the challenge that
she had.
She loved the word of God and lent a helping hand
without hesitation to those in need. No mountain
was too high, no valley too deep; with God on her
side nothing was impossible for her….
Her greatest enjoyment was going on the People
Mover bus into CBD area. She was so excited
when the bus service began, as it was created for
wheelchairs and she was able to go into town
and buy the little goodies she sold in the area of
North Beach, Durban. Unfortunately the ramps
were not maintained, and rather than hurt herself
she stopped using the mover bus. She had a little
business of her own selling novelties for kids for
many years in the North Beach area and at some
centres. This gave her a sense of independence
and kept her going, as it gave her the opportunity
to meet more people, whom she loved. She looked
forward to going out each day, and when it rained it
would be a big disappointment as it was a so-called
“wasted day” in her eyes. She was a familiar sight
at North Beach in her brightly coloured clothes,
always neatly dressed, and with her bubbly
personality. This attracted many customers, who
eventually became friends.
Children were drawn to her as well, with her laid-out
baskets filled with child friendly goodies.
Everyone knew her, and if you dared to go
walking anywhere with her, you would have to be
prepared for a longer walk than normal, as she
would stop and speak to each and every person she
met on the way. She was very popular; people loved
her as she was always smiling, regardless of her
circumstances, and she always looked to inspire
someone along the way. She never let her disability
get in the way of her goals, and people would be
amazed by this and always tell her she inspired
them. Children loved her, and she loved children.
Mum gave children a whole new way of looking
at disabled people as they saw not only the chair
but also her positive, loving and caring spirit.
Veronique never let spinal muscular atrophy define
her limits. And so with this attitude she achieved many
of her goals in life, including having a child after
doctors said it was impossible; she did it with faith
and was the best mum one could ever ask for. I
never saw the chair but a mother in a million. She got
married, had a little business of her own, and bought
a home of her own, which many people thought was
impossible. As she would say, when man says it’s
impossible, God makes it possible.
Mum was very independent from a very young age,
although losing mobility in her arms in 2013 hit
hard, as she was no longer able to do all the things
she could before, like cooking, sewing, feeding
herself, putting on her own make-up, brushing her
own hair. This took a big part of her independence
away, but she never gave up, kept positive, never
complained, and kept on going. She still tried to do
her usual things with a little extra help. She used
the little mobility remaining in one hand to guide
her electric wheelchair when going to the beach,
running her business and selling her items. If her
hand slipped off the lever that controlled her
motorised wheelchair, she would ask people to help
reposition her hand and go happily on her way. She
went shopping, and much more, all on her own,
regardless of her challenge; nothing stopped her.
An inspiration to all who have so much yet complain,
a gift to us all. A person who accepted God’s will
and made the best of life. She raised funds for the
Muscular Dystrophy Foundation for many years and
loved doing so, as she enjoyed speaking to people
and educating them about the disease, which many
people are not aware of. Mum’s dreams came true
when she went on the MSC Sinfonia ship in 2016,
2017 and 2018. She loved the beach and the water
and dreamed of being on or in it one day; going on
the MSC fulfilled part of that dream, and we were
looking forward to another trip at the end of the year.
But on 21 March 2018, mum struggled to breathe
and was rushed to hospital, where she was in ICU
for 15 days with double pneumonia and other
complications. Doctors said her muscular
dystrophy had deteriorated so badly that her
body was too weak to fight. Mum kept strong and
fought so hard that even when the doctors gave
us no hope mum proved them wrong. She was
supposed to go on a ventilator, but she fought
against it; the doctor was amazed and said she
no longer needed a ventilator and was doing so
well that the negative feedback from doctors
suddenly changed to positive; they could not
explain her improvement. Unfortunately on 5 April
2018 mum took the last breath of her amazing life.
Veronique will always be remembered for her
amazing life and the many people she touched.
North Beach no longer hears the clicking sound of
her wheelchair, but her spirit will always be in the
hearts of those she touched.
I would like to thank the Muscular Dystrophy
Foundation for their continuous support over
the years and kind gesture during mum’s
passing. The Foundation sponsored her electric
wheelchair a couple of years back, which made
a major difference in her life. Her chair was her
life. When her batteries died, the Foundation
assisted again. Mum loved being part of the
Muscular Dystrophy Foundation and raising funds
for them; it was also her way of saying “Thank You”.
Rest in peace, Beloved Soul.
Your beloved daughter, Bianca Connor
Condolences to family and friends. Ed.
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