MDF Magazine Newsletter Issue 56 August 2018

chikadee

Spring Issue 56

August 2018

R25.00 incl. VAT

An athlete with

heart

The MDF has

my attention!

Living life

to the full

My journey from powerless to powerful


0860 23 66 24 . www.cemobility.co.za

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DF

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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Website: www.bkktrading.co.za 9


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

11


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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MD

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!

18


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/

30


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.

31


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.

33


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

34


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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