MDF Magazine Issue 61 April 2020 (2)

Summer Issue 61

March 2020

A long journey to bring hope

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05 MDF notice board

06 National news

10 MD information

MD INFORMATION

10 COVID 19 recommendations for the neuromuscular

community

12 Top 10 MD stories for 2019

14 Disability Tax amendments

15 Why daily stretching is important for those with

Duchenne MD

16 Exercising to improve function in MD

Events

18 A long journey to bring hope

People

19 How to overcome being self-conscious about using a

power chair

20 Living with DMD: Inspiring each other’s futures

22 “How MD changed my life”: A diagnosis that led to an

incredible cross-country journey

24 Researcher with FSHD awarded MDA funding to

discover new therapies for the disease

Regular Features

30 The view from down here

31 Doctor’s corner

32 On the spot, Scott

33 Kiddies’ corner

34 Random gravity checks

42 Sandra’s thoughts on …

Healthy Living

36 Medications and supplements

39 Physiotherapy

Research

26 Potential DMD treatment, ATL1102, showing safety and

muscle strength gain in phase 2 trial

38 Breaking news: Research

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 - From left to right: Wallies Olivier, Garth Stoltz

and Trevor Nicolas

Future Issues:

August 2020

(Deadline: 6 July 2020)

The Muscular Dystrophy Foundation

of South Africa

We are a non-profi t 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

Never in my wildest dreams have I thought that I will be greeting you in the New

Year under such sad and dire circumstances. The whole world is grappling with

the outbreak of COVID 19. It is evolving quickly and in South Africa the rate of

infection is escalating fast. A national lockdown period of 21 days has now been

announced and I am sure that everyone is concerned about their own wellbeing,

the wellbeing of their loved ones, their communities and their country.

It is important to not lose hope in these times. A new year means new beginnings and a fresh new start. If you can

let go of the past, freeing yourself of past failures and disappointments, you can embrace a new perspective – a

fresh look at the future and all the wonderful possibilities it holds. With the New Year come 365 (366 for 2020) new

and exciting days to mark your destiny.

Now is the perfect time to remember what is important and to commit again to what is real and true for you.

I am going to make time now to think about what a new beginning really means for me. One way to do this is to

take an empty piece of paper and at the top I write “A new beginning means to me…”. I then answer this sentence

a few times with responses that feel meaningful and true to me.

Here are some highlights of “A new beginning means to me…”:

1. Living life to the fullest and doing at least one extreme activity.

2. Spending more time with family and friends (quarantine has taught me just how important the people in my life

are).

3. Listening to my heart more.

4. Letting go of all grievances.

5. Looking after my physical health better.

6. Learning something new each day. Even if it is just a new word.

So I invite you to refl ect on what a new beginning means to you. Get out a pen and paper and write your list down.

Now is the perfect time to pursue a new beginning.

Stay strong. Stay safe. Please stay at home. Together we can overcome this.

Regards

Gerda Brown

The Muscular Dystrophy Foundation of SA

would like to thank the National Lotteries

Commission for their support.

4

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

gmnational@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..

NATIONAL OFFICE

E-mail: gmnational@mdsa.org.za


Tel: 011 472-9703

Address: 12 Botes Street, Florida Park,

1709

Banking details: Nedbank, current

account no. 1958502049,

branch code 198765

CAPE BRANCH (Western Cape,

Northern Cape & part of Eastern

Cape)

E-mail: cape@mdsa.org.za

Tel: 021 592-7306

Fax: 086 535 1387

Address: 3 Wiener Street, Goodwood,

7460


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


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


account no. 1069431362, branch code

198765

General MD Information

Cape Town

Lee Leith

Tel: 021 794-5737

E-mail: leeleith@mweb.co.za

Gauteng

Rabie Modisane

Tel: 011 472-9824

E-mail: rabie@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

Congenital Muscular Dystrophy

Hanti van Eyk

Tel: 082 792 2054

Doné van Eyk

Tel: 072 598 1163

General Support Group Gauteng

East Rand

Zigi Kerstholt

Cell: 082 499 9384

E-mail: z.kerstholt@gmail.com

National

Giving back to the MDF

Andrew Marshall has been a longstanding member of the Muscular

Dystrophy Foundation of South Africa. He’s always been keen on

assisting the Foundation by speaking to caregivers, helping with

admin, writing articles for the MDF Magazine and even fundraising.

During 2018 he completed his autobiography, Dissecting wobbles,

in which he takes readers on his journey through life affected by

Friedreich’s ataxia. He hoped that once he had covered the costs of

the book he would be able to donate a percentage of the profits to the

MDF. On 21 January 2020 it happened!

In Andrew’s own words:

“Today I’m beyond ecstatic! I went to the Muscular Dystrophy

Foundation to present them with the money I collected from the

sales of Dissecting Wobbles. This is the best feeling in the world, as

most of you know they have been exceptionally good to me and now

being able to give them a hand brings me untold joy. I got a taste of

this feeling when I raised money with that skydive I did a few years

ago but this was money from my heart and soul, the most important

thing I have ever done. I wrote about wanting to leave an imprint on

the world, a ripple in the pond that is life. I honestly feel like I’m

starting to do this…”

Thank you Andrew for your kind donation. It is a privilege to be part of your journey.

6

National

Welcome Sarie

My name is Sarie and I am so pleased to be working for the MDF

National Office! I have been in the banking industry for most of my life. I

have a passion for people and assisting those most in need. My hobbies

include sewing, hiking and socialising with my kids! I look forward to a

long and prosperous future with MDFSA.

Expanding our reach

As you all know, the Muscular Dystrophy Foundation of South Africa consists of a national office and three

branches which operate in the nine provinces of South Africa. Currently we can only provide face-to-face

support to our members based in the provinces where we have offices. We have been searching tirelessly for a

suitable funder to assist us to expand our services to the more remote provinces. We were fortunate enough that

FC Robb Charitable Trust supported this vision and generously agreed to fund a volunteer office in East London

for a year.

A social worker, Bomkazi Manciya, was appointed as a volunteer on 1 February 2020 to provide psycho-social

support services to our affected members at Vukuhambe Senior Secondary School as well as to our families

residing in East London. A very warm welcome to Bomkazi!

7

National

Would you like to support the Muscular Dystrophy

Foundation but you just don’t know how?

MySchool MyVillage MyPlanet is one of South Africa's biggest fundraising programmes and allows you to

make a difference, just by shopping. Every time you use your card at any of the partner stores they'll give back

a percentage of your purchase value, on your behalf, to the charity you choose at absolutely no cost to you!

Supporters can use their cards at a range of national,

regional and local retail partners on the MySchool

MyVillage MyPlanet system. Some of the many

national partners are the following:

• Woolworths

• Engen Quickshops

• Engen Foodstops

• Waltons

• Tafelberg Furnishers

• Power24 pre-paid electricity

• Altech Netstar

Benefits of being a cardholder

1.You can raise funds for MDFSA without costing

you a cent.

2.You can use one card at many different stores,

not just one.

3.Exclusive discounts and special offers for

cardholders. For example, you are automati

cally part of WRewards from Woolworths (which

includes up to 20% instant savings on over 1 000

items in their stores plus other tiered benefi ts), you

get R50 off every GetAhead or MathPro educational

software item that you buy, and you get exclusive

discounts on vehicle recovery from Altech Netstar.

4.You will receive a monthly email statement

showing exactly how much your benefi ciary has

received.

In order to become a supporter, you need to be

registered with MySchool MyVillage MyPlanet.

Please complete the application form and fax it to

0866 822 833 or email it to cs@myschool.co.za.

Alternatively you can apply online at www.myschool.

co.za or apply at your nearest Woolworths store. It’s

quick and easy!

Together we can make a difference!

8

MD

COVID-19 Recommendations for

the Neuromuscular Community

By the Muscular Dystrophy Association, America

Current guidelines for COVID-19 exposure have focused on specific communities related to risk to travelers, the elderly and

those with conditions that affect respiratory health. In order to inform the neuromuscular community of specific information

which is relevant to COVID-19, MDA has prepared the following information which expands on the CDC [Centers for Disease

Control and Prevention] recommendations for the general population in order to keep the neuromuscular community up

to date on best practices for managing the global spread of SARS-CoV-2 [https://www.cdc.gov/coronavirus/2019-ncov/index.

html].

A few general points will help patients and families to have a better understanding of the current situation:

About COVID-19

The new virus is called SARS-CoV-2, which is part of the family of betacoronaviruses that are common in people and various

animals, including camels, cattle, cats, and bats. The original spread from live animal markets in China has now continued

with person to person transmission leading to global spread which is evolving rapidly. The disease caused by SARS-CoV-2

is now known as COVID-19.

The virus is spread from 1) person-to-person exposure (principal means of transmission) and 2) surfaces exposed to the virus.

Exposure is by respiratory droplets produced when an infected person coughs or sneezes leading to transmission to others in

close proximity. A challenge is that some transmission can occur before an infected individual becomes ill making it hard to

isolate that individual. The highest risk of spreading is from those that have symptoms of fever and respiratory illness. Late in

the illness there is the potential for gastrointestinal infection and exposure from stool. Spreading from infected surfaces can

be managed by careful handwashing (see below).

Symptoms

Symptoms may appear 2–14 days after exposure. Findings compatible with SARS-CoV-2 infection include fever, cough, and/

or difficulty breathing.

10

MD

What to do if you are sick?

For neuromuscular disease patients, it is important that you seek prompt medical attention if you or anyone in your household

is identified with symptoms consistent with COVID-19 or for documented exposure to an individual who has tested

positive. Before seeking care, you should contact your healthcare provider and tell them that you have symptoms consistent

with COVID-19 or have been exposed to someone who has or is being evaluated for COVID-19. It is important to notify your

healthcare provider of your symptoms and potential exposure prior to entering a healthcare provider’s office to ensure proper

precautions can be taken to help keep other people in the office or waiting room from getting infected or exposed.

Contact your healthcare provider or health department to see if you should be tested. Your healthcare provider will provide

guidance for having your symptoms evaluated and monitored.

If you have a medical emergency and need to call 911, notify the dispatch personnel that you or a member of your household

has, or is being evaluated for SARS-CoV-2. You should go to an Emergency Room or Urgent Care facility if you are having

shortness of breath or experiencing worsening symptoms. It is important that you call ahead to the facility and notify them if

you or a member of your household has or is being evaluated for SARS-CoV-2.

The CDC has developed guidelines to prevent the spread of COVID-19 if you are sick.

Prevention and Management

There is currently no preventative vaccine or specific treatment for COVID-19. The best way to prevent illness is to avoid

being exposed to the virus. However, as a reminder, CDC always recommends everyday preventive actions to help prevent the

spread of respiratory diseases, including:

• Avoid close contact with people who are sick.

• Avoid touching your eyes, nose, and mouth.

• Stay home when you are sick.

• Cover your cough or sneeze with a tissue, then throw the tissue in the trash.

• Clean and disinfect frequently touched objects and surfaces using a regular household cleaning spray or wipe.

• Follow CDC’s recommendations for using a facemask. CDC does not recommend that people who are well wear a

facemask to protect themselves from respiratory diseases, including COVID-19.Facemasks should be used by people who

show symptoms of COVID-19 to help prevent the spread of the disease to others. The use of facemasks is also crucial for

health workers and people who are taking care of someone in close settings (at home or in a health care facility).

• Wash your hands often with soap and water for at least 20 seconds, especially after going to the bathroom; before eating;

and after blowing your nose, coughing, or sneezing. If soap and water are not readily available, use an alcohol-based hand

sanitizer with at least 60% alcohol. For information about handwashing, see CDC’s Handwashing website [https://www.

cdc.gov/handwashing/].

Caregivers and Household Members

It is important that caregivers and household members take all necessary precautions to avoid the risk of contracting

COVID-19 and spreading the illness to someone with a neuromuscular disease. We recommend that neuromuscular patients

and caregivers work together to identify a backup caregiver who will be able to provide care for the neuromuscular patient in

the event that the caregiver gets sick. In addition to the preventative measures listed above, caregivers should also wash their

hands or use hand sanitizer before and after providing care (such as feeding, bathing, and dressing) to help decrease the risk

of exposure for the patient.

Article available at: https://www.mda.org/covid19

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MD

Top 10 Muscular Dystrophy

Stories of 2019

By Joana Carvalho

Originally published online by

Muscular Dystrophy News Today, 3 January 2020

Throughout 2019, Muscular Dystrophy News Today brought you daily coverage of important discoveries, treatment

developments, clinical trials, and other important events related to muscular dystrophy.

As we look forward to bringing you more news this year, we present the 10 most-read stories of 2019.

No. 10 – “Sarepta Acquires Rights to Novel

Gene Therapy Candidate to Treat Limb-Girdle

MD”

In May, Muscular Dystrophy News Today reported Sarepta

Therapeutics’ acquisition of an investigational gene therapy

program focused on calpain-3 for the treatment of limb-girdle

muscular dystrophy type 2A (LGMD2A). Calpain-3 is

an enzyme that does not work properly in people with LG-

MD2A, leading to the accumulation of toxic waste proteins

within skeletal muscles, which ultimately compromises their

function. The calpain-3 gene therapy program uses a rhesus

monkey-derived viral vector to deliver a functional copy of

the calpain-3 gene (CAPN-3) to the patients’ skeletal muscles,

with the intention of preventing further deterioration.

This program was originally developed by the Research Institute

at Nationwide Children’s Hospital.

No. 9 – “Physical Therapy Essential for Duchenne

Boys if Given with Care, Expert Says”

In August, Muscular Dystrophy News Today interviewed

Claudia Senesac, PhD, a physical therapist who has been

working with boys with Duchenne muscular dystrophy

(DMD) for nearly 40 years, to discuss the benefits and importance

of physical therapy for DMD. Senesac noted the

importance of being reasonable about the amount, intensity,

and type of exercises that boys with DMD should perform

to slow muscle degeneration. She said that stretching exercises,

swimming, and night splints (braces worn overnight)

are particularly helpful to improve range of motion, and recommended

that parents look for physical therapists who are

experienced in working with children with DMD.

No. 8 – “Gene Therapy SRP-9003 Showing

‘Very Encouraging’ Results at 9 Months in

Limb Girdle MD, Sarepta Reports”

We covered the release in October of new nine-month data

from a Phase 1/2 trial (NCT03652259) investigating the

safety, tolerability, and efficacy of SRP-9003 (MYO-101), a

form of gene therapy developed by Sarepta Therapeutics, in

children with limb girdle muscular dystrophy type 2E (LG-

MD2E). SRP-9003 uses a viral vector to deliver a functional

copy of the beta-sarcoglycan gene (SGCB), which is defective

in people with LGMD2E, directly to their muscles to

halt and possibly reverse the symptoms of the disease. Ninemonth

data from the study showed that a single administration

of SRP-9003 at a low dose of 5×1013 vg/kg reduced

the levels of creatine kinase (a marker of muscle damage)

by 82%, and led to significant improvements in several functional

measures in three children with LGMD2E who were

part of the study’s first patient group. Sarepta is planning to

test a higher dose of SRP-9003 in the second cohort of patients

participating in the trial. The study is expected to enroll

a total of nine children with LGMD2E, ages 4 to 15, and to

conclude on Dec. 31, 2020.

No. 7 – “Gene Therapy SGT-001 Shows Signs of

Microdystrophin Production in Muscles of Boys

in IGNITE DMD Trial”

In February, we covered preliminary data from a Phase 1/2

trial (NCT03368742) investigating the safety, tolerability

and efficacy of the experimental gene therapy SGT-001 in

children and teenagers with DMD. SGT-001, developed by

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MD

Solid Biosciences, uses a viral vector to deliver a gene producing

a short, artificial form of dystrophin, called microdystrophin,

into muscle cells. Microdystrophin has the key components

of the normal protein missing in those with DMD.

Three-month data from the IGNITE DMD study showed that

a single administration of SGT-001 at the lowest planned

dose (5E13 vg/kg) led to the detection of microdystrophin in

some muscle fibers of the first three boys treated. The study

has since been placed on a second clinical hold by the U.S.

Food and Drug Administration (FDA) after a boy who received

SGT-001 in the study experienced a severe adverse

event. Solid is now working closely with the FDA to lift the

hold.

No. 6 – “Fulcrum Takes Charge of Compound

That Might Treat Root Cause of FSHD, Plans

Phase 2 Study”

Fulcrum Therapeutics announced in April that it had acquired

the global rights to develop and potentially market losmapimod,

an investigational treatment for facioscapulohumeral

muscular dystrophy (FSHD). Losmapimod, originally developed

by GlaxoSmithKline for other indications, is currently

being investigated as a treatment for FSHD due to its ability

to reduce the abnormal the [sic] activity of DUX4, the gene

that causes the disease. Two Fulcrum-sponsored Phase 2 trials

— NCT04003974 (still recruiting) and NCT04004000 —

are currently underway to investigate the safety and efficacy

of losmapimod in patients with FSHD1.

No. 5 – “With Zolgensma’s Approval, Scientists

Pursue Similar Gene Therapies in Duchenne”

In May, Grace Pavlath, MD, chief research officer at the Muscular

Dystrophy Association, and Barry Byrne, MD, a pediatric

cardiologist and director of the University of Florida’s

Powell Gene Therapy Center, discussed the therapeutic potential

of gene therapies to treat DMD. Experts believe that a

cure for DMD may be found soon in a gene therapy similar

to Novartis‘ Zolgensma, which was the first gene therapy approved

by the FDA to treat all types of spinal muscular atrophy

in newborns and toddlers up to age 2. They also noted

the high manufacturing costs of these therapies are a major

drawback that must be addressed to make them more broadly

available.

No. 4 – “CRISPR-Cas9 Corrects Common

DMD-causing Mutation in Mice and Human

Cells”

Investigators from the University of Texas Southwestern

Medical Center showed that the CRISPR-Cas9 gene editing

tool could be used to correct a common mutation in the

dystrophin (DMD) gene that is associated with DMD. In the

study, this gene editing tool was able to correct defects in

DMD known to occur in patients, and to restore the production

of dystrophin in heart muscle cells (cardiomyocytes)

derived from stem cells of DMD patients and in mice with

the disease. Based on these findings and other achievements,

Parent Project Muscular Dystrophy awarded a grant worth

$250,000 in 2017 to the team of scientists led by professor

Eric Olson to advance their research into CRISPR as a DMD

treatment strategy. Olson, supported by Cure Duchenne Ventures

and others, also co-founded a company aiming to use

this gene editing tool in developing a therapy.

No. 3 – “Single Dose of CRISPR Gene Therapy

May Succeed as Long-term Treatment for

DMD, Mouse Study Shows”

Researchers from Duke University found that a single dose of

a gene therapy based on the CRISPR-Cas9 gene editing technology

could be sufficient to treat DMD in the long term or

even permanently. In their study, they injected a single dose

of the therapy into adult and newborn mice with DMD. Using

this approach, they managed not only to stimulate the production

of functional dystrophin in the animals’ muscles as early

as eight weeks after treatment, but also to keep it stable for

at least one year. Some adult animals ended up developing

an immune response against the therapy’s constructs, which

was avoided in newborn animals that were treated with immunosuppressive

agents while they received the gene therapy.

According to the researchers, these preliminary findings

demonstrate that gene therapies based on the CRISPR-Cas9

gene editing tool may correct genetic defects permanently.

No. 2 – “Defying the Odds of Living with Duchenne,

Decade After Decade”

In February, Muscular Dystrophy News Today interviewed

several men living with DMD after the age of 30 to gain insight

into their day-to-day lives and the personal challenges

they faced since being diagnosed. While luck seems to play a

role in their longevity, access to adequate treatment and medical

professionals, support from caregivers and friends, and a

positive attitude towards life also had significant impacts on

their lifespan.

No. 1 – “DMD Gene Therapy Showing ‘Very

Encouraging’ Results at 9 Months in Phase 1/2

Study, Sarepta Reports”

Nine-month data from a Phase 1/2 trial (NCT03375164)

testing Sarepta Therapeutics’ microdystrophin gene therapy

showed that the treatment increased the levels of dystrophin

by 81.2% in the muscles of four boys with DMD without

signs of adverse effects. The therapy also led to significant

improvements in motor function, including the ability to stand

and to shift from a lying to a sitting position. The gene therapy,

called AAVrh74.MHCK7.micro-dystrophin, uses a viral

vector to deliver microdystrophin, a short form of dystrophin,

to muscle cells. Following the promising findings in this trial,

called Study 101, Sarepta will conduct a Phase 2 trial known

as Study-102 (NCT03769116). This trial is currently recruiting

participants at two sites in the U.S. It is expected to enroll

approximately 24 boys with DMD, ages 4 to 7.

Article available at: https://musculardystrophynews.

com/2020/01/03/top-10-muscular-dystrophy-stories-2019/

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DISABILITY

TAX

AMENDMENTS

South African Disability Alliance

Electronic circular issued on 21 February 2020

SARS has made changes to the rules which govern

disability tax.

The changes which might require urgent attention

pertain to the expenses which qualify for relief.

It is important to note that these changes come into effect

from the start of the 2021 tax year (1 March 2020)

and will apply to any expenses paid on, or after that

date. Accordingly, the current rules should still apply to

any expenses paid on or before 29 February 2020.

Personal Attendant Caregivers

With effect from 01 March 2020, we may only take

into account the salary paid to a personal attendant

caregiver if that person is employed with the sole

purpose of caring and looking after the needs of a

person with a disability. If the person is employed on a

full time basis to perform housekeeping activities, the

salary paid to such person will not qualify.

Prior to this change, we can take into account the

salary paid to a personal attendant caregiver if that

person is employed with the primary (at least 50%)


person with a disability.

With effect from 01 March 2020, we may not take

into account the salary paid to a personal attendant

caregiver who is employed with the sole purpose of

caring and looking after the needs of a person with

a disability, if that caregiver is the grandparent or

great-grandparent of the person with the disability.

Prior to this change, we can take into account the

salary paid to a personal attendant caregiver if that

person is employed with the primary (at least 50%)


person with a disability, even if that caregiver is the

grandparent or great-grandparent of the person with

the disability.

As is currently the case, we cannot take into account

the salary paid to a personal attendant caregiver if that

person is your spouse.

Air Conditioners and Other Temperature Regulators

With effect from 01 March 2020, we may only take into

account 50% of the cost of an air conditioner, heater,

fan, or environment control system (computerised or

electronic) to prevent hypothermia or hyperthermia for

a person with a spinal cord injury (termed as paraplegic,

quadriplegic or tetraplegic).

Prior to this change, we can take into account 100% of

such expense. If this expense might apply to you, the

recommendation is to make the purchase on or before

29 February 2020.

Cell phones/Tablets

With effect from 01 March 2020, we may take into

account apps required by a person with a disability due

to a moderate to severe impairment in visual or hearing

ability, but we may not take into account the actual cost

of the cell phone/tablet.

Modifications to Assets

With effect from 01 March 2020, if modifi cations are

required to a home such as installing ramps,

enlarging passage ways, bathrooms and doorways for

wheelchair access, lowering existing cabinets for

accessibility and automating doors and gates, the cost

of such modifi cations may only be taken into account if

the expenses are reasonable, they would not typically

increase the value of the property and they would not

typically be incurred by persons who do not have a

moderate to severe mobility impairment. Expenses are

more likely to be considered reasonable if the materials

used are similar to existing materials.

With effect from 01 March 2020, if you received the

customs rebate in respect of an imported modifi ed

vehicle, then no modifi cation cost can be claimed.

If you did not receive the customs rebate, only the

ascertainable costs in respect of the modifi cation of the

motor vehicle may be taken into account. If the vehicle is

imported unmodifi ed and modifi ed only in South Africa,

we can take into account the cost of the modifi cations,

less the customs rebate.

14

MD

Why Daily Stretching Is Important for

Those with Duchenne Muscular Dystrophy


Muscular Dystrophy News Today, 6 January 2020

Stretching has been part of my daily life since I was

diagnosed with Duchenne muscular dystrophy (DMD)

about 17 years ago.

Every night, my parents would reserve 30 minutes to

do passive stretching, and I saw a physical therapist

regularly. We didn’t do it because we wanted to, but

because we knew it was the best way to maintain my

mobility and ability to walk. It’s had a huge impact on

my life, and it can on yours, too.

The main idea behind passive stretching is that it

reduces contractures, which are common in neuromuscular

diseases such as DMD. A contracture refers to the

inability of a muscle to complete a passive full range of

motion. Contractures are generally caused by limited

muscle movement combined with the replacement of

muscle with fi brotic tissue.

When boys transition into wheelchairs and are less

active, there is an even greater chance of developing

contractures. Stretching is one of the most important

ways I’ve been able to maintain my mobility. Night

splints, standing, walking, and proper limb positioning

also are necessary.

As uncomfortable as it might be, stretching should

be done daily because it improves range of motion.

The better the range, the less likely you will develop

debilitating contractures. Some of it follows common

sense. When you don’t move at all, your muscles

become tight and compounded with fi brosis, and you

will have diffi culty walking.

Think of it this way: Our muscles are already

signifi cantly weaker than the average person’s, and

working against our own tightness is a recipe for

disaster.

For DMD and many other neuromuscular diseases,

independence is the goal, and I believe stretching helps

us achieve that ideal. I can move rather freely because

I’m not actively working against much tightness, which

means I can still play video games, write, and interact

with the world around me.

If you are trying to learn a new instrument or language,

you know that consistency is key. Once you practice

enough, some parts will come without thinking. That’s

also how it is with stretching. It may be uncomfortable

or weird at fi rst, but you will get used to it.

Consistency is important because it helps maintain

your muscle movement. If you don’t drive a car for a

while, it starts to rust, the engine locks, and the battery

dies. When you don’t “drive” your muscles through

passive stretching, they aren’t going to move very well.

Daily stretching also takes discipline. My parents and I

wanted to skip it plenty of times, but I’m glad we didn’t.

My muscles are glad, too.


com/2020/01/06/daily-stretching-mobility-musclestrength/

Please visit our website (www.mdsa.org.za) to access the brochure on

daily stretches – Ed.

15

MD

Exercising to

Improve Function in

Muscular Dystrophy

By Anna Williams

News Center, Feinberg School of Medicine

Northwestern University

10 June 2019

moderate. The mice were exercised on a treadmill

three times a week, for six months.

The investigators found that both exercise regimens

were benefi cial in mice and did not increase muscle

damage or fi brosis. In particular, the mice showed an

improvement in skeletal muscle function, reduction in

cardiac decline and increase in respiratory capacity.

Low- and moderate-intensity exercise improved

muscle, heart and breathing function in an animal

model of Duchenne muscular dystrophy, according to a

Northwestern Medicine study.

The study, published in Scientifi c Reports, was led by

Elizabeth McNally, MD, PhD, the Elizabeth J. Ward

Professor of Genetic Medicine and director of the

Center for Genetic Medicine.

Duchenne Muscular Dystrophy (DMD) is the most

common and severe form of muscular dystrophy, a

group of genetic diseases that cause progressive

weakness and loss of muscle. There is currently no

cure for DMD, which occurs in children, and almost

exclusively in boys. Symptoms of the disease began

early in childhood, and by the age of 13, most patients

require the use of a wheelchair.

The goal of treatment for DMD is to control symptoms

and improve quality of life. The impact of exercise in the

disease, however, has not been well understood.

“It has long been a question whether exercise is bad

for patients with Duchenne Muscular Dystrophy,” said

McNally, also a professor of Medicine in the Division

of Cardiology and of Biochemistry and Molecular

Genetics. “It has been suggested by some that exercise

worsens the disease. However, we know that not

exercising is bad for the heart and cardiovascular

system.”

In the current study, McNally and her collaborators

investigated the impact of aerobic exercise using an

animal model of DMD. The scientists examined mice

with the same genetic disorder as patients with DMD

and tested two different levels of exercise, low and

“For most measurements, the moderate intensity was

generally a little better, but for many measurements

even low-intensity exercise was benefi cial,” McNally

explained. “With exercise, the mice became more

active, even when they were not on the treadmill. The

exposure to exercise made them move more.”

Furthermore, the scientists found that exercise was

associated with a dose-dependent increase in

serum levels of adiponectin, indicating that the hormone

could serve as a biomarker for favorable response to

exercise in DMD.

Although the study’s fi ndings suggest that low-intensity

or moderate-intensity exercise may be benefi cial in

DMD, the authors note that further research in humans

is needed to determine appropriate levels of exercise

and the impact on muscle, cardiac and respiratory

function.

Aaron Zelikovich, ’16 BA, was the fi rst author of the

paper. Nancy Kuntz, MD, professor of Pediatrics in

the Division of Neurology and Epilepsy and in the Ken

and Ruth Davee Department of Neurology; Mattia

Quattrocelli, PhD, a postdoctoral fellow in

McNally’s laboratory; and Isabella Salamone,

a student in Feinberg’s Driskill Graduate Program in

Life Sciences (DGP), were also co-authors.

The study was supported by National Institutes of Health

grants AR052646, HL061322 and T32 DK007169, the

Muscular Dystrophy Association, and Parent Project

Muscular Dystrophy.

Article available at: https://news.feinberg.northwestern.

edu/2019/06/exercising-to-improve-function-in-muscular-dystrophy/

16

A MARINA

LIFESTYLE

TRAVEL

By Hilton Purvis

My wife and I travel the Garden Route as often as time

will allow, and along the way we are always on the

lookout for new wheelchair accessible accommodations.

It was therefore with a great deal of interest that

we focused our attention in January on what was a new

establishment to us, the Marina Martinique bed and

breakfast outside Jeffrey's Bay.

Despite the fact that we are living in 2020 it is still

very difficult to fi nd genuinely wheelchair accessible

accommodation, and it has therefore become

standard fare for us to make detailed enquiries before

confi rming any bookings. We always ask the

establishment to send us photographs of the bathroom,

bedroom and general access areas, which is done by

e-mail or WhatsApp. In this regard Marietha, our host

at Marina Martinique, was most obliging and even went

as far as measuring the height and width of various

furnishings in the room in order to ensure wheelchair

access. Marina Martinique provides level paved

parking, paved access corridors and a spacious living

area and bathroom with a large balcony providing a

wide scenic view of the neighbourhood. The bathroom

is fi tted with grab rails, a roll-in shower with its own

shower chair and sufficient space for a wheelchair,

albeit that some assistance is required.

It was disappointing to hear from Marietha that I was

the fi rst genuine wheelchair user to have booked into

Marina Martinique. All previous wheelchair visitors

had been able to stand and take a couple of steps.

Access requirements are very different if you are able to

perform those two physical activities. Marietha's

comment served to confi rm my belief that travel for

genuinely disabled people remains a real issue due to

the lack of proper facilities, with a real concern about

being stranded at an inaccessible destination with no

options available. We have come a long way in the last

40 years, but there is still a very long way to go.

Marina Martinique is located in a large gated village

community, reminding us a great deal of the Dixie

Landings resort in Walt Disney World, Orlando. The

houses all have a common design theme, all the

gardens and public places are beautifully maintained,

and the entire village is crisscrossed with a network of

waterways. All the houses have their own private jetties

and little rowing boats and canoes. There is something

very calming about the sound of lapping water and, in

the case of this marina, the fresh smell of the ocean. It

is a very pleasant place to be, especially sitting on the

deck in the morning enjoying breakfast.

Jeffrey's Bay is just a kilometre or two further east along

the coastline. A town with historic surfi ng roots, home

of the perfect wave, it also boasts three very pleasant

eating establishments. "InFood" is a bakery and deli

serving rather delicious breakfasts and lunches,

and "Kitchen Windows", despite its name, offers

beautiful views of the famous beach and waves, making

it the perfect destination for an early evening dinner.

Located close to Marina Martinique is the rather unusual

"Walskipper" restaurant located right on the beach, to

the extent that you can sit at your table with your feet

on the sea sand! For a wheelchair user there is a fi rmer

wooden deck area, but somehow it is worth the effort

to try and get the wheelchair onto the sand for the full

experience.

17

Events

A long journey to bring hope

How far would you go to make a difference in someone

else’s life? This is the question that Angelos and Cindy

Frantzeskos asked themselves many long years ago.

The answer came in a form that would make most of us

respond with “Are you serious?” – because it was a

10-day cycling trip over 1 400km from Johannesburg to

Cape Town!

This is the seventh time our team of heroes has joined

Angelos and Cindy on the epic journey, which began on 26

February. We wish you all the best of luck and I am sure the

entire MDF community are behind you!

18

People

How to Overcome Being

Self-conscious About Using a

Power Chair

By Hawken Miller


Muscular Dystrophy News Today, 2 December 2019

Power chair use can feel like a burden. Most people

I hang around don’t use a wheelchair so it makes me

feel out of place. I also have to fi nd alternate routes

to get into places like restaurants and offi ces, which

is inconvenient for all who accompany me. However,

having to use a powered mobility device most of my

life has helped me realize much of comfort has to

do with attitude. The more you get out in the world

and experience life in a power chair, the more secure

you’ll be.

The level of my self-consciousness goes up and

down – as do most emotions in my life – but

managing it with intentionality is extremely important.

If thoughts of alienation get too out of hand, you are

hamstrung in your attempts to enjoy life with others.

Action and attitude go hand in hand, so you’ll need

to work on both if you want to be less self-conscious

in public or with friends. The words of Shia LaBeouf

in his viral meme ring true here: “Just do it!” The best

way to overcome these feelings is to go out into the

world and experience life.

The more you can normalize being in a wheelchair,

the easier it gets. However, the more you don’t interact

in public, the harder it gets to overcome feelings

of self-consciousness. In my case, journalism has

helped me to overcome those feelings. I’m forced to

interact with able-bodied individuals on a regular basis.

I become so focused on my work that I forget why

going out in public often stresses me out so much.

When I am not out in the fi eld for a while and I stay

home for too long, it’s harder to manage those

feelings of self-consciousness. My tip is to try and get

out in public or with friends at least couple of times a

month to prevent feeling alienated from everyone.

In discussions with my friends, it’s become clear

they couldn’t care less that I use a wheelchair and

that they embrace the way I’m made. That just goes

to show most people don’t think as much as you

do about who you are or what you look like. And

who cares if they do? Trying to worry about what

everyone thinks is draining and it doesn’t help with

achieving dreams.

I understand it’s easier said than done and, believe

me, I’ve been in a place of insecurity many times.

Even so, you cannot let your disease dictate the way

you interact outside your home. It’s hard to feel and

look different than everyone around you, but if you

don’t face your self-consciousness, it will keep you

from doing what you are capable of accomplishing.


com/2019/12/02/how-to-overcome-being-self-conscious-about-using-a-power-chair/

19

People

Living with DMD:

Inspiring each

other’s futures

Originally published online by pharmaphorum

30 April 2018

This article is part of a DMD Spotlight series produced by pharmaphorum in conjunction with

Santhera Pharmaceuticals.

Diagnosed with Duchenne muscular dystrophy

(DMD) at three years old, Dr Jon Hastie grew up

never thinking about the future – until one day he

discovered he actually had one. Now in his 30s, he

is determined to make sure others know they do

too.

He spoke to pharmaphorum about living with the

condition and how his charity, DMD Pathfinders, and

his Facebook group, have helped create networks of

inspiration.

Much has changed since Jon was diagnosed with

DMD at just three years old. He, like many others in

his position, is living longer and more independently

than many ever thought possible.

He grew up wanting to live as ‘normal’ a life as

possible, following in his brother’s footsteps by

going to university, but never really having one eye

on the future.

Inspiration

“I really enjoyed academia, but equally I didn’t

know what other options I would have in terms of

my life, so I just carried on going with what I was

enjoying,” said Jon, who ended up staying at the

University of Essex to complete his master’s degree in

environmental studies and PhD in government.

“I never really thought too far ahead. It was always

like ‘I hope I live long enough to finish my degree’,

and then when you get to the end of that it’s like ‘I’m

not dead yet, so what next?’ It sounds morbid, but

it was really about being ever present in your life,

because you knew it might get cut short at any

time.”

As he was finishing his doctorate, though, he saw

something that changed his whole outlook on

life and cemented his belief in peer support – a

magazine article about a man in his 40s with DMD.

“That was quite instrumental in changing my view.

Suddenly I thought I might have a bigger future here

than I realised, and that was really empowering for

me to move forward in my life,” said Jon, adding

that it gave him the confidence to fulfil his dream of

visiting the USA.

“I sailed over there on the Queen Mary II and spent

two weeks in the States, travelling around. It was a

really fantastic trip.”

On the way back, he decided he wanted to meet

other people living with DMD and make a film that

could inspire others in the same way that he had

been by that magazine article.

Jon explained: “I guess I wanted other people to be

able to have that same inspiration to change their

own lives and to think about their futures. I wanted

to make sure more people knew there were adults

out there not only living longer, but also achieving.

“I just wanted it really to inspire the next generation

of young people with Duchenne.”

Most of A Life Worth Living was filmed over two

weeks, and Jon and his crew visited five men in the

UK and a pair of brothers in the Netherlands. It was,

he said, “a mammoth undertaking”, but thoroughly

enjoyable.

“We wanted to get coverage among the general

population; but for me the biggest thing was that

it would actually reach people with Duchenne and

their families and maybe change their mind about

what the future might hold,” he went on.

20

People

The power of peer-to-peer support

As Jon’s story shows, the value of speaking to

others in the same position cannot be underestimated

and the internet has opened previously unimaginable

communication opportunities.

“I’ve always been inspired by others with

Duchenne and the internet has allowed me to

find more people. It gives you a bigger sense of

community: it’s not just one person who’s your

inspiration, it’s a whole group of people,” he

enthused, adding that a Facebook group for people

with DMD that he set up in 2013 now has more than

350 members from all around the world.

Determined

Jon’s motto is ‘never give up, never give in’. It

embodies the way he lives his life and is the

inspiration he passes to others through his work.

“I have a good life. I’ve got two part-time jobs, I’m

doing a voluntary role, and I have a PhD as well. I’ve

got friends who I go out with and I’ve got a partner

and we are getting married in August.”

Jon says he oversees organising the wedding and

all the necessary details.

“Having a peer support group helps you tap into

other people’s solutions to the daily problems you

face – simple things like dealing with ventilators to

assist your breathing, or just having a haircut.

“Pooling knowledge and experience with others just

makes a tremendous difference to how you can

manage your own health.”

DMD Pathfinders, which Jon set up with two others

living with Duchenne, is an extension of that. It is a

user-led organisation that promotes choice, control

and quality of life for teenagers and adults with the

condition in the UK.

“We see our role as raising awareness of adults with

Duchenne,” explained Jon, adding that it was about

encouraging people with the condition to embrace

their future and aim higher.

While the group, which is led by a group of

volunteers and supporters, does advocate for

access to new treatments, finding a cure is not its

main purpose.

The future

Jon said: “We are saying ‘great, let’s have access

to treatments that may become available, but in the

meantime how do we live our lives well?’

“We know it is possible to have a good quality of life

with the right support and, for us, it’s about helping

people to do that as far as possible.”

While he is hopeful that medical progress will bring

new treatments, Jon said, no matter what happens,

holistic thinking around making sure everyone has

the best possible quality of life will be vital.

“People might want to believe there will be a cure

for Duchenne and that’s it, there’ll be no more

problems.

“I don’t think it’s going to be quite that straightforward,

but I do think it’s going to be a lot better than

it is now.”

“My partner is more the concepts and ideas man, so

he leaves it to me to take charge of all the details,”

he joked.

“I’m very happy with my life and, although I would

rather not have Duchenne, I’ve accepted that I do.”

He hopes that, through his work, others with DMD

can learn to live their lives well, too.

About the interviewee:

Dr Jon Hastie is the CEO of DMD Pathfinders, a

user-led organisation of adults with Duchenne.

He co-founded DMD Pathfinders in 2014 after

working for several years on a transition programme

for young people with Duchenne and has been a

co-researcher on key social studies of adults with

DMD. As an adult with Duchenne himself he has a

detailed knowledge of the condition and its physical,

social and psychological impacts in adulthood.

Article available at: https://pharmaphorum.com/

views-and-analysis/living-with-dmd-inspiringeach-others-futures/

People

“How Muscular Dystrophy Changed my Life”:

A Diagnosis that Led to an Incredible Cross-Country Journey

By Jon Olson


The Muscular Dystrophy Association

21 August 2019

but by the time I was 50, my steps had become

heavy, my footing less sure, and my hands had

become so weak I struggled to open a new jar of

peanut butter or mayonnaise.

I thought I had arthritis and went to see a hand

doctor. He did a simple test — spreading my

index finger and pushing it toward the others,

while I pushed back. It closed immediately. I

could not resist it. In the parking lot of the hand

doctor’s office, I had the frightening thought

that maybe all my ailments — hands, feet, the

increasingly gravelly character of my voice —

were connected. I felt instinctively that this was

true but didn’t know how it could be possible.

In May 2019, Jon Olson set out from Astoria,

Oregon to bike across the US. He’s

dedicating his miles to MDA, the research and

care it supports, and the community it — and

Jon — represents. So far, he’s raised more than

$10,000. He’s ridden more than 2,500 miles and

has about 1,000 left to reach New York City.

I first felt the effects of muscular dystrophy when

I was in my 40s, almost a decade before I had

a name for it. At the time, I was working as a

journalist and was building an office in my

garage, a place where I could work from home

without interruption. In putting it together —

studs, insulation, drywall, electricity, heat,

internet — I sometimes had to hold a hammer

with two hands to pound a nail. And, clenching

a tool, I often found it hard to open my fingers

to release it.

The hand doctor referred me to a neurologist.

The neurologist confirmed my fears. He said I

had muscular dystrophy — myotonic dystrophy,

to be specific, affecting extremities: fingers,

ankles, throats. I said, “But I want to ride my

bike across the country!” — the ne plus ultra of

long-distance riders, the thing you want to do,

just to prove you can do it.

The doctor said, “Well, you better go now,

because you’ll never be stronger than you are

today.”

I’d led a pretty active life. I’d played hockey and

baseball as a kid. I biked to school and back,

and then got a better bike and went farther. After

high school graduation, I rode, fully loaded, with

two friends, from Seattle to San Diego, 1,800

miles in 28 riding days. And every year for many

years I logged thousands of miles in day rides

and bike-camping trips throughout the Midwest.

I trained for and competed in two marathons,

22

People

I didn’t go then. I didn’t go for seven years. The

diagnosis brought me down. I didn’t work out, I

didn’t ride much. But eventually I did start to ride

again, and found that, while my walking was

unsteady, while my speech was often

unintelligible, I could pedal a bike just fine. So I

planned a trip and went.

The ride is the thing I wanted to do. I added the

MDA fund drive almost as an afterthought. But

it has made all the difference. Instead of an

ego-driven achievement, just about myself, the

fund drive has made the ride a quest for a

better life for those afflicted — a better world, in

a way. The ride was the primary thing, but now it

is subservient to a higher thing.

It has changed me. I have, in my life, been

mostly a bystander, little involved in “charity,” or

activities that help others. I would be the first to

say that my condition is on the mild side. I am

fortunate in that, and grateful that it gives me the

opportunity to serve the greater good.

Article available at: https://strongly.mda.org/

how-muscular-dystrophy-changed-my-life-a-diagnosis-that-led-to-an-incredible-cross-countryjourney/

Thank you “find the gap” for developing our new member database.

We are most grateful for your support!

www.findthegap.co.za

23

People

Researcher with FSHD Awarded MDA Funding

to Discover New Therapies for the Disease

By Jeanene Swanson


The Muscular Dystrophy Association

19 June 2019

clinical trials.

Although Justin has never known life

without the symptoms of FSHD, he hasn’t let

the disorder get in the way of accomplishing his

goals. Instead, his desire to work on his disease

led him to Yale University, where he is now

completing a postdoctoral fellowship in the lab

of Monkol Lek. Recently, Justin was awarded an

MDA development grant of $140,000 over two

years to carry out research studying potential

therapeutics for treating FSHD. The award was

made in conjunction with a grant from the Chris

Carrino Foundation for FSHD.

Like many pre-medical students, Justin Cohen

discovered along the way that what he really

liked was research. However, unlike others who

exchange the stethoscope for a microscope,

Justin had a strikingly different motivating

factor — he has been living with the disease

he studies, facioscapulohumeral muscular

dystrophy (FSHD), for almost as long as he can

remember.

Upon enrolling as an undergraduate in pre-med

at Tufts University in Boston, Justin wanted to

be a neurologist. A research internship at the

Boston Biomedical Research Institute (BBRI)

opened his eyes to the possibilities of using his

background to study FSHD.

“When I got into research, I realized I was

much more into discovering the causes of the

disease and figuring out a way to develop a

treatment for it instead,” he says. While at the

BBRI, he was able to interact with scientists at the

Senator Paul D. Wellstone Muscular

Dystrophy Cooperative Research Center for

FSHD, which used to be located within the BBRI

before the institute closed its doors. The Wellstone

Center, which is now located at the University of

Massachusetts Medical School, aims to

understand the causes and pathology of FSHD.

Its large muscle tissue and cell repository and

biomarker database are resources available

to scientists conducting FSHD research and

Growing up with FSHD

Justin was born and raised in Kingston, N.Y.,

a small town tucked snugly into the leafy Hudson

Valley region of upstate New York. It wasn’t

until Justin, who is now 28, was about 4 years

old that he experienced his first symptom of

FSHD, hearing loss. FSHD is a genetic muscle

disorder that leads to progressive degeneration

of muscles, with the most pronounced effects

appearing in muscles of the face, shoulder blades,

and upper arms. Around that time, his parents

started looking into what could be the cause.

Even though he was still able to walk normally,

he had some muscle weakness, especially in the

face. His parents took him to see a neurologist,

who eventually diagnosed Justin with FSHD. It

was later confirmed with a genetic test.

At around 12 years old, he “really started to get

a limp in my leg,” and by the time he was in

high school, Justin was alternating walking with

crutches and using a wheelchair. By the time he

graduated, he had lost much of his ability to walk

and was using a wheelchair almost all the time.

That didn’t affect his love of science — in fact, it

made the obstacles worth overcoming.

“I was really into the sciences when I was

growing up, very interested in biology,” he says.

Once he started taking higher-level biology

classes, he was able to understand his disease

more. “I was tired of gradually losing my ability

to do simple tasks, and I wanted to do whatever

I could to develop treatments for FSHD.”

People

Life in the lab … with FSHD

A medically oriented career might just run in

Justin’s family, with his dad being a cardiologist

and his mom, a cancer nurse. However, it was

Justin’s desire to make a lasting impact on the

field that led him to Tufts University in Boston,

where he received his bachelor’s degree in

biology and psychology in 2012. He then went

on to Drexel University College of Medicine,

where he finished his doctorate degree in 2018

in molecular, cell biology, and genetics working

under Claudio Torres, PhD, associate professor

of Pathology & Laboratory Medicine. He has

recently started a postdoctoral fellowship in the

lab of Monkol Lek, PhD, assistant professor of

Genetics at Yale University School of Medicine,

who shares a similar passion for the work: Dr.

Lek, too, is researching a neuromuscular disease

with which he’s been diagnosed.

As Justin’s FSHD has progressed, he has lost

the ability to walk, feels weakness in his arms

to where he can’t raise them above a certain

height, and has issues gripping things. When he

was at Drexel, he was provided an accommodation

in the form of a technician who assisted him

with his experiments. Justin gave step-by-step

instructions at the side of the lab tech, who then

manipulated the lab equipment for him.

“I was looking to have a similar sort of setup at

Yale and needed a little help to get some of the

funding,” Justin says. He joined Dr. Lek’s lab in

April, and “[Dr. Lek] is a big reason why I was

able to start at Yale. He has his own type of

muscular dystrophy, and he was able to deeply

empathize. He is very accommodating to make

sure that I have everything I need.”

To that end, MDA’s funding will be to provide

Justin with a lab technician, who will work

alongside him to perform the benchwork for

studies that Justin designs.

“While I have ultimately been successful with my

accomplishments, it hasn’t been easy,” he says.

“I have had to fight every step of the way in

order to get the accommodations I needed.

Since it takes me longer to do anything, I also

had to get really good at time management to

maximize what I can do before I get too tired.”

Identifying therapeutic compounds for FSHD

As a PhD student in Dr. Torres’ lab at

Drexel, Justin studied how the biology of aging

relates to the pathology of neurodegenerative

diseases. Specifically, his doctoral work focused

on discovering the causes of the neurological

deficits seen in HIV patients. He will able [sic] to

apply his knowledge of the biological pathways

involved in neurodegeneration and his years of

practice working on many different types of cell

lines to his postdoctoral research, in which he

will perform functional assays on muscle cells.

FSHD is caused by abnormal expression of

double homeobox 4 protein (DUX4), which

leads to the production of toxic proteins and

muscle cell death. With this new funding,

Justin will identify biological pathways that

contain therapeutic targets for FSHD and

validate related genes among the pathways.

He will then test drugs that target these

pathways, with an emphasis on those that are

already FDA-approved, for their ability to

reduce both cell death caused by toxic DUX4 and

biomarkers of FSHD.

“By emphasizing testing of FDA-approved

compounds, the clinical trial pipeline can be

sped up, reducing the wait time for any potential

treatment,” he says.

Overcoming obstacles

Justin says that Dr. Lek is helping him gain

independence as a researcher by teaching him

computational biology. While he’s grateful for

Dr. Lek’s mentorship, “it’s very different than

what I’m used to doing,” he says. “It’s really a

different way of thinking.” It’s too early to tell if

he’ll eventually move in that direction, though,

“ideally, I would like to do a bit of both because I

still like the benchwork.”

Like many researchers, and especially a

researcher with a neuromuscular disease,

Justin has undoubtedly faced challenges. He

credits his family and his own stubbornness for

his perseverance.

“It is largely because of my siblings and parents

that I have been able to accomplish what I have,”

he says. “They don’t let me use my disease to

make excuses or give up on things.”

The best advice he can give to others in his

shoes is to not get disheartened by obstacles

in the way.

“Stubbornness is not a bad thing — a lot of

what I’ve accomplished has happened through

sheer stubbornness and force of will,” he says,

adding, “[but] don’t be afraid to ask other people

for help.”

Article available at: https://strongly.mda.org/

researcher-with-fshd-aims-to-discover-newtherapies-for-the-disease/?fbclid=IwAR1PpgA

bF70W68YkbFgUPnYmjhFpLoAvb8Nu9sklI_kw2X1247NGsrn6Gw

25

Research

Potential DMD Treatment, ATL1102, Showing Safety and Muscle

Strength Gain in Phase 2 Trial By Joana Carvalho

The experimental therapy ATL1102 is safe and continues

to show evidence of improved upper muscle strength and

function in all nine non-ambulatory boys with Duchenne

muscular dystrophy (DMD) in a nearly complete Phase 2

trial in Australia, updated data show.

Final results from the open-label study, testing ATL1102 at

low dose, is expected in early 2020. A potentially pivotal and

yearlong Phase 2b trial may follow.

ATL1102, developed by Antisense Therapeutics, is an

antisense inhibitor of CD49d, a subunit of the Very Late

Antigen-4 (VLA-4) receptor found on the surface of

immune T-cells.

By blocking this receptor, ATL1102 works to reduce the

number of T-cells producing high amounts of CD49d, which

have been linked to rapid and severe progression among

those with DMD. Lowering CD49d levels is also expected

to reduce tissue inflammation that exacerbates muscle fiber

damage, slow disease progression, and potentially improve

patients’ motor function and walking ability [sic].

The safety and tolerability of ATL1102 are being investigated

in a Phase 2 trial (ACTRN12618000970246) taking place

at the Royal Children’s Hospital (RCH) in Melbourne. The

study enrolled nine Duchenne boys, ages 10–18, all unable

to walk without assistance.

Its main goal is to evaluate the safety and tolerability of

ATL1102 given once weekly by subcutaneous (under-theskin)

injection at a dose of 25 mg for 24 weeks (six months).

Additional goals include assessing its effects on functional

capacity, upper limb strength, and on the levels of immune

cells in the blood.

Functional capacity is being evaluated using the Performance

of Upper Limb Test (PUL2.0), and upper limb strength by

the MyoGrip and MyoPinch tests.


Muscular Dystrophy News Today

18 December 2019

Previous findings from the first six boys treated with

ATL1102 showed that the therapy was safe and well-tolerated.

Treatment also led to improvements in upper limb

muscle strength compared to a group of untreated children

in a previous study.

This update covers treatment given all nine boys, supporting

the safety of ATL1102 at the 25 mg low dose. The last two

patients are expected to finish being monitored in January,

Antisense said in a press release.

To date, the most common adverse events are related to its

subcutaneous administration, including injection site erythema

(redness) and skin discoloration. No one withdrew from

the study.

No serious adverse events have been recorded, and no

safety concerns were reported by the trial’s Data Safety

Monitoring Board.

PUL2.0 scores increased or remained stable in seven of

the nine boys over the course of the trial, suggesting an

overall improvement in functional capacity. MyoGrip and

MyoPinch tests also showed a clear improvement in

upper limb strength among children treated with ATL1102

compared to untreated boys.

“Seeing the efficacy signals of this study,

conducted with a low dose in a small number of boys over a

relatively short time period, is both gratifying and immensely

encouraging,” William Goolsbee, Antisense’s non-executive

director and chairman of the trial’s Scientific Advisory

Board, said in a press release. “[O]nly a small handful of drugs

have shown indications of efficacy so early in development.

In the context of DMD, we now look to have a drug,”

Goolsbee added. Treatment also reduced the

number of T-cells in the blood, including those

producing large amounts of CD49d, from baseline

(study’s start) to the end of treatment. These levels were

seen to rise again at week 28, after treatment stopped.

26

Research

The planned Phase 2b trial of ATL1102 will also be in DMD

children who are unable to walk. Antisense said it has met

with three European regulatory authorities in recent months

to discuss details of this study’s design, goals, and duration.

It is currently planned to use higher treatment doses, and

to treat those enrolled for up to one year. The regulatory

agencies agreed that positive results from a Phase 2b

trial, plus final data from this Phase 2 trial, might lead to

ATL1102’s approval in the EU.

Talks with the U.S. Food and Drug Administration (FDA)

regarding the potential trial and this DMD treatment are also

planned.

“We had high expectations for ATL1102 in DMD, and this

first study has certainly exceeded them with respect to its

efficacy signal at the lower dose tested. The next stage of

development will be in translating what we have learned

into optimizing clinical benefit for the non-ambulatory boys

who comprise ~50% of the total DMD population and who

have no effective treatment options,” said Mark Diamond,

Antisense’s CEO.


com/2019/12/18/atl1102-showing-safety-muscle-strengthgain-in-duchenne-phase-2-trial/

27

Research

Breaking News: Research


Muscular Dystrophy UK

• Roche announces global compassionate use plan for

Risdiplam

14 January 2020

The announcement means that doctors will be able to

apply for the potential treatment on behalf of their

patients with SMA Type I. Roche plan to expand access to

people with SMA Type II later in the year.

Roche UK will operate this compassionate use plan

until risdiplam has been approved via the Early Access to

Medicines Scheme (EAMS). This scheme, governed by

the UK Medicines and Healthcare Products Regulatory

Agency (MHRA), is designed to ensure people can access

promising new medicines at the earliest stage.

Risdiplam is an oral drug that increases SMN protein

levels, the protein absent in people with SMA. The drug

works by targeting the SMN2 gene. It is currently an

investigational medicine as it has not yet been approved

in the UK or elsewhere.

Parents of children with SMA Type I should speak to their

child’s doctor about gaining access to the treatment.

• Duchenne trial to extend to non-ambulatory boys and

men

8 January 2020

Pharmaceutical company, Catabasis, and charity

Duchenne UK have announced a partnership to study

the drug, edasalonexent, in the non-ambulatory DMD

population.

Edasalonexent works by turning off an enzyme called

NF-kB, which is known to be overactive in DMD. It has

been shown to slow the progression of Duchenne and is

currently being evaluated in a phase 3 trial in boys aged

four to seven.

28

The new study will evaluate the safety and efficacy of

the drug in non-ambulatory boys and men and will be

recruiting in the UK.

• IBM drug receives Fast Track designation

19 December 2019

Orphazyme have announced that the U.S Food and

Drug Administration (FDA) have granted the drug,

arimoclomol, Fast Track designation. The drug has been

developed as a potential treatment for sporadic inclusion

body myositis (sIBM). Fast Track designation is designed

to expedite the development and review of drugs in the

US.

We can expect results from the current phase 2/3 trial in

the first half of 2021.

• Wave halts development of DMD drug

17 December 2019

Wave Life Sciences have announced the disappointing

news that the development of the drug suvodirsen for

DMD has been discontinued.

They shared that the exon skipping drug did not ‘restore

meaningful levels of dystrophin’ in people with DMD.

Wave plan to share additional findings, which may inform

future research.

• Duchenne exon skipping drug approved by FDA

13 December 2019

Sarepta’s exon skipping drug, VYONDYS 53

(golodirsen) has been approved by the Food and Drug

Administration (FDA). The FDA regulates drugs in the

USA.

The drug is an antisense oligonucleotide (or

molecular patch) that binds to exon 53 of the dystrophin

gene and triggers exon skipping. It could be a potential

treatment for about 8% of people with Duchenne muscular

dystrophy (DMD).

Research

• SMA drug granted Priority Review by FDA

26 November 2019

Roche have announced that the U.S. Food and Drug

Administration (FDA) have accepted the New Drug

Application (NDA) and granted Priority Review for the

drug risdiplam. We can expect a decision on approval

from the FDA by 24 of May, 2020. Roche anticipate

filing a Marketing Authorisation Application (MAA) to

the European Medicines Agency (EMA) by the middle

of 2020.

• Promising results from SMA SUNFISH trial

11 November 2019

Roche have today announced positive news from Part

2 of its study. The trial evaluated the drug risdiplam in

people aged two to 25 years with Type 2 or 3 spinal

muscular atrophy (SMA). It showed the drug to be safe

and effective in increasing muscle function.

Data from the study will be presented at an upcoming

medical congress.

• Roche discontinues anti-myostatin drug development

for Duchenne

8 November 2019

On Wednesday, Roche Genentech announced the

disappointing news in a letter to the Duchenne

community. The drug, RG6206, targeted a protein called

myostatin which is important in regulating muscle size. In

the letter, Roche shared that the drug is “highly unlikely

to demonstrate clinical benefit.”

Any families who are enrolled in the trial should speak to

their study physician for more information.

• Update on Vamorolone for treatment of Duchenne

muscular dystrophy

21 October 2019

Santhera Pharmaceuticals has announced that the

UK’s Medicines and Healthcare products Regulatory

Agency (MHRA) has designated vamorolone as

Promising Innovative Medicine (PIM) for the treatment

of Duchenne. This is the first of several steps in

the Early Access to Medicine Scheme (EAMS),

which aims to give people living with debilitating

conditions access to medicines that are not yet licensed.

Vamorolone is a steroid-like drug that is thought to

have fewer side effects than current steroid treatments

for Duchenne. A placebo-controlled phase 2b trial

comparing vamorolone to prednisolone is currently

recruiting in the UK.

• Duchenne trial open for recruitment in UK

11 October 2019

A phase 2b trial testing vamorolone is now recruiting

at six UK sites (Newcastle, Glasgow, Liverpool, Leeds,

Birmingham and London). Vamorolone is a steroidlike

drug that has fewer side effects than current steroid

treatments for Duchenne muscular dystrophy. More

information about the trial and contacts at each trial site

can be found on clinicaltrials.gov

• New study investigating edasalonexent for

dysferlinopathy

27 September 2019

Pharmaceutical company, Catabasis, and American

charity Jain Foundation have announced a preclinical

research collaboration to study edasalonexent in

dysferlinopathy (LGMD 2B). Edasalonexent works by

turning off an enzyme called NF-kB, which is known

to be overactive in many neuromuscular conditions,

including dysferlinopathy and Duchenne muscular

dystrophy. The drug has been shown to slow the

progression of Duchenne and is currently being evaluated

in a phase 3 trial.

The new study between Catabasis and Jain

Foundation will evaluate the potential for edasalonexent

as a treatment for dysferlinopathy by

testing it in a mouse model. Results from this

preclinical study are expected in the first half of 2020.

• Acceleron stop development of ACE-083 for FSHD

17 September 2019

Acceleron Pharma has announced topline results

from its phase 2 trial testing ACE-083 in adults with

facioscapulohumeral muscular dystrophy (FSHD).

Although the drug increased the size of the muscles it

was injected into, this did not translate into a clinical

benefit i.e. there was no improvement in muscle strength

or function. Unfortunately this means that Acceleron

is discontinuing development of ACE-083 for FSHD.

Although this is disappointing news, the learnings from

this trial are very valuable to the muscular dystrophy

field and will help in designing future trials for FSHD.

• Results from vamorolone trial published

28 August 2019

Results from a six-month study testing vamolorone in

boys with Duchenne have been published in the academic

journal, Neurology. Vamorolone is an anti-inflammatory

drug that could be an alternative to steroids. The study

showed that vamorolone was safe and improved muscle

function in a dose-dependent manner.

Vamorolone is currently being tested in a global phase

2b trial called VISION-DMD, which has UK sites

including London, Newcastle, Liverpool, Glasgow and

Leeds (Birmingham is not yet open for recruitment).

Eligibility criteria and contact details for UK sites can be

found on clinical trials.gov

Article originally available at: https://www.musculardystrophyuk.org/news/breaking-research-news/

29

SHEDDING A LOAD

By Hilton Purvis

As Eskom load sheds us once again the neighbourhood

descends into darkness.

Everything goes very quiet as all household appliances

cease to function. There is an eerie silence, but if you listen

carefully you can hear a slight gurgling sound. This is the

sound of a little more of our country going down the drain

each time Eskom cuts the power.

Load shedding affects young and old, men and women,

but impacts on disabled people in some rather unique

ways, making our lives a little more precarious than they

already are. The first effect it had on me was to force me to

change the way I re-charge the batteries on my motorised

wheelchair. Before load shedding I would use the

wheelchair during the day and then set it up to charge during

the night, and have a fully charged wheelchair waiting for

me each morning. The problem now is that if we are load

shedding during the night the resultant surges in power

destroy the charging unit and degrade the wheelchairs

batteries. One might get away with a couple of power

outages without any damage, but sure enough it will catch

you one day. Electrical charging equipment and batteries are

just not made to be switched on and off suddenly during the

charging process, and certainly not multiple times each day.

The second area which impacted me immediately was my

computer. In my case, and I'm sure this applies to many other

readers, it is more than just a link to the outside world. It is

what I use to earn a living, and if we do not have power then

I am not able to work. In some businesses people are able

to get by doing things manually when the lights go out, but

this is not so for those of us using computers. We can buy

an uninterrupted power supply (UPS) but any unit powerful

enough to run a computer for more than three hours (load

shedding lasts for at least 2.5 hours) and be able to stand up

to at least two or three load shedding periods during a single

day will cost a fortune. Our government ministers might have

taxpayers funding their continuous power supplies, but sadly

I cannot claim the same luxury.

The third area in which load shedding immediately impacts

me is the ability to reach and communicate with people via

telephone or even mobile phone. In their eternal wisdom

Telkom is phasing out land lines. I realise that this is old

technology, and some citizens like to steal the lines, but at

least they used to provide a method of communication even

when there was no electrical power. The new wireless phones

require power to work. No power, no phone. If one uses a

cordless phone or a speaker phone, as many of us are forced

to do, they also do not work without power.

I used to think that my mobile phone gave me a safety net

with regard to communication, but most recently I have

discovered that load shedding impacts the mobile network

relay stations, and just yesterday when I tried to call a friend

during load shedding neither party could hear more than a

garbled noise over the line. Load shedding is knocking out

the battery backups of the mobile relay stations, rendering

many of them inoperable and reducing the quality of the

call signal. Generally the mobile phone will still work, but

sometimes it might not, and we have no control over when

that sometime may be and whether it is an emergency or not.

The bottom line is that if you are in trouble and there is no

power, you are in trouble!

There is a host of other noticeable impacts on our lives as

disabled individuals. such as the closure of shopping malls

during load shedding, often the only available source of

accessible food retailers; elevators no longer working

in buildings, which renders your source of employment

inaccessible; electrical access doors no longer functioning.

The list goes on. During the recent SONA speech our

president made vague reference to assisting the disabled

within our communities. It would have been far more

beneficial if he had announced an incentive scheme to

provide disabled citizens with uninterrupted power supplies,

or electrical inverters, or solar panel systems in order to

allow them to conduct a productive life. That would

have been a proactive and positive step for those most

vulnerable to load shedding. Unfortunately I don't see

anything forthcoming on that front in the near future.

Some may brush off these concerns, dismissing them as First

World problems. This would be a mistake. We live in an

integrated economy within an integrated world where the

ability to connect with one another easily and regularly

forms the basis of how we live and work. The destruction of

infrastructure being undertaken at present is resulting in

disabled people becoming more marginalised by the day.

Electrical power is the enabler in our lives; we do not have a

manual option.

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.

Duchenne and Becker muscular dystrophies have similar signs and

symptoms. Is there a genetic difference to inform a diagnosis?

Duchenne and Becker muscular dystrophy are part of a spectrum of disease now more correctly called dystrophinopathies, as they are due to genetic

faults (mutations) in a gene called dystrophin. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones

including delays in walking independently. Affected boys have a waddling gait and difficulty climbing stairs. DMD is rapidly progressive, while Becker

muscular dystrophy (BMD) is characterised by later-onset skeletal muscle weakness, with symptoms starting up to the age of 30 years.

The clinical severity is broadly correlated with the type of genetic fault in the gene. Large deletions may lead to absence of dystrophin expression in

muscle tissue. This is usually associated with DMD. When a genetic fault results in partial dystrophin protein remaining, the milder BMD phenotype

occurs. Therefore, the type of genetic fault can distinguish between the DMD and BMD phenotypes with high, but not perfect, accuracy.

Parents often hope that testing will give them the information that their little boy with clinical features will have BMD rather than DMD. Importantly

the clinical phenotype will not be changed by a genetic result.

Can the number of deletions on gene 4q be used as an indicator for prognosis for facioscapulohumeral

muscular dystrophy ?

Facioscapulohumeral muscular dystrophy (FSHD) typically presents with slowly progressive weakness of the facial muscles, scapular winging and

foot drop. The severity is highly variable within and between families.

The diagnosis of FSHD is established by the identification of a pathogenic contraction of the D4Z4 repeat array of chromosome 4q35. The genetic

structure involved has a number of repeated sequences. Greater than 12 repeat units is considered normal. If an individual has ten or 11 repeat units,

mild disease may occur or there may be so-called non penetrance. The individual has the contraction but no clinical disease symptoms. Individuals

with <9 repeats typically have more severe disease, with earlier onset. But the variation between individuals can be marked. Further, females are less

likely to have severe disease than males. Individuals with a large contraction of D4Z4 (1-3 repeats) have a higher probability of earlier-onset disease

and more rapid progression than those with smaller contractions of the D4Z4 locus. Although such broad correlation exists in individuals with FSHD

in general, the range is wide and cannot be used to predict severity or age of onset for individuals.

Doctor’s

31

ON THE SPOT, SCOTT…

It’s ok Cupid . . .

By Robert Scott

Dating is something that is not easy and is often awkward at

first. At some point or another we have all experienced this

to a certain degree. If face-to-face dating isn’t hard enough,

doing it online is where things can become even trickier!

Online dating has the same basic principle as regular dating,

except it is done over the internet through dating websites as

well as mobile apps.

Various people go into online dating with different wants/

needs. These can include such things as romance, long-term

relationships, sexual satisfaction and wanting to connect with

someone.

No matter the reason for it, it is not easy and can be difficult

to navigate.

Before I dive into the subject too much, I am in no way

encouraging online dating and if you are active with it,

remember to always do so with caution and ensure your

personal safety at all times.

Meeting people online has many pros and cons and became

particularly evident in an article by Brittany Wong (2018)

entitled “You think online dating is bad, try doing it in

a wheelchair”. The article focuses on three people with

different types of muscular dystrophy and their experiences

with online dating.

The article contains some very interesting observations

which I will highlight below.

When asked if they disclosed their disability when doing

online dating, the three interviewees had the following words

to say:

Amin Lakhani said: “Yes, I’m very explicit about it. One time

a girl didn’t know I had a disability until I showed up on the

date, and she was really quiet throughout the night. I finally

asked her about it and she told me she was surprised — my

profile had only hinted at it, so from then on I always made

it explicit. Now it’s in my main photo, and I talk about it,

usually jokingly, but also seriously when there is room for

it… .”

Erin Hawley shared: “Yes, I always mentioned it and

included a full-length photo of myself in my wheelchair.

There was no point in hiding it because a partner would

eventually know I was disabled. Showing myself right away

also weeds out those who are close-minded; why would I

want to date someone like that?”

A very interesting point has come from this in that being open

about who you are as well as your disability is often the best

way to do it!

The article posed another enlightening question: “What

advice would you give to other disabled people who are

apprehensive about using online dating apps or just dating in

general?”

Amin said: “Primarily, joke about your disability

immediately. People will respond to it based on how you

present it. Trying to hide it or ignore it will just make people

uncomfortable, because humans are naturally curious about

anything that is unique.”

Erin added: “It’s going to suck no matter what. You

really must go into it with armor of steel, because people are

going to be cruel. Meet in person as soon as you can —

someone might say they are OK with your disability, then

change their mind when meeting in person. And, finally,

don’t give up hope. It might take a while, but that’s OK. Keep

dating, keep putting yourself out there, and take breaks to

refocus on yourself when needed.”

Lolo said: “My advice would be to just fearlessly try. Have

fun first and don’t get hung up on hoping to find ‘the one.’

That way, you’ll have better experiences meeting people than

disappointments when things don’t work out. And everyone

struggles to date these days. It’s not always just because of

your disability.”

What we can draw from this is the importance of being

honest about who you are and your disability. Why hide who

you are? To meet someone online and not tell them that you

have muscular dystrophy is not going to help you at all. If

you decide to meet in person, they are going to find out in

any case. If that person is not ok with your disability, is that

person really worth your time?

Be who you are, don’t hide away, and the right person for you

may be closer than you think!

The wants for love, connection, relationships and intimacy

are ones we all share. No matter where you try to find these

things, just be who you are.

Reference

Wong, B. 2018 (updated 2019). You think online dating is

bad, try doing it in a wheelchair. https://www.huffpost.com/

entry/dating-with-a-disability_n_5b887ea5e4b0162f472136

1b

KIDDIES CORNER

Play is an important part of a child's early development. Playing helps young children's brains to

develop and their language and communication skills to mature.

Materials:

3 cups of flour

1½ cups of salt

6 tspn cream of tartar

3 tbspn of oil

3 cups of water

Instructions:

Home Made Play Dough

By Science Fun for Everyone!

*Junior Scientists must have a responsible adult assistant to help!

Dissolve salt in the water.

Pour all ingredients into a large pot.

Stir constantly over medium heat until a ball forms by pulling

away from the sides.

Knead the dough mixture until the texture matches playdough

(1–2 minutes).

Store in plastic container. Should last for at least 3 months.

You can even try adding a package of Kool Aid to give the

playdough color and a nice scent!

Article available at: http://www.sciencefun.org/kidszone/experiments/home-made-play-dough/

Article available at: https://sheroes.com/articles/best-out-of-waste-ideas/NjkzNw==

33

Random gravity checks

She’s a Rock Star

By Andrew Marshall

Hi everyone

The MDF asked me if I wanted to write a column

for this magazine after I wrote and published a

memoir last year, Dissecting wobbles. (Google it.

It’s on Amazon and I’d love for as many people as

possible to read it.)

I’m extremely excited at the opportunity to write for

this magazine. I’ve written a few articles for MDF

before (about a skydive I did raising money for the

MDF, and a few other things) which I really enjoyed.

But here’s the thing, I have no cooking clue what I’m

doing when it comes to this writing stuff! If I hadn’t

met Andrew Miller, my editor (who also has a type

of muscular dystrophy, SMA II – some of you may

remember he wrote an article for the magazine about

his ninja word skills a few years ago), I’d never have

produced the book we created together.

Leila is 16 years old and is a member of my

WhatsApp support group, which means she

shares the same flavour of muscular dystrophy

as mine: Friedreich’s ataxia. She has always inspired

me in a titanic kind of way, and really she’s

someone I strongly feel we all need to meet. The way

Leila lives her life in the face of adversity is quite

incredible. She has an amazing light inside her,

which you can see when she’s smiling and when she

speaks and which just has to be shared. I can’t be

selfish and keep it all to myself. Leila is my hero.

So, I asked her to write a letter, telling us a little

about her and some of the big things happening in

her life, which I’m sure you guys will be interested

in. To start, this is what she has to say about her

new service dog, Sakura.

So, given my often dodgy editorial ability, I thought

to myself: “What the hell am I going to write about?”

But, as it turned out, I didn’t have to worry. In fact,

a young lady actually wrote most of this first column

for me! And yes, I can read some of your thoughts

(particularly if you know me: “It’s always about a girl,

Andy”), but this is definitely not like that.

When I first applied for a service dog they told me

the wait could be one to three years. I was prepared

to wait for however long it took. Then, two

years after I applied, my mom got a call to say that

they had matched me with a dog, but she didn’t

tell me!!! I found out on Christmas eve 2019 and

it was the best Christmas ever. The first week of

training I did at the SA Guide dogs facilities and

then the next two weeks they came to Pretoria

and did literally everything with me. They even sat

through many classes and assembly at Afrikaans

Hoër Meisiesskool Pretoria.

34

Sakura is a dog with an amazing personality.

When she doesn’t have her ‘working suit’ on she

is very energetic and playful, and when she has

it on she knows she has to work and she really

concentrates. I fell in love with her the first time

I saw her in one of the kennels, and I didn’t even

know that she was mine (love at first sight,

literally).

We have been told that the bond between the

owner and the service dog can take very long to

strengthen, but our bond feels the strongest it

could possibly be. She helps me to pick up stuff

that I drop, as I’m sure you can relate. She also

opens and closes doors for me and she can speak

by barking on command, and go and call for help

when I need it. More than anything else, she is

ALWAYS by my side and I never feel alone any

more.

Leila has a YouTube channel called Leila Loves

Life where she posts lots of bits and pieces about

herself and her life as a wheelchair user. She did

a video (https://youtu.be/SkHfg3qGuKU) after her

mom and dad contacted Reach For a Dream for her

that absolutely blew my socks off, so I asked her to

tell you a little about it (when I watched the video my

checks got pretty wet – but let’s keep this between

you and me please).

I have a best friend called Elsje de Beer. We’ve

been friends since late in Grade 7 and she is

absolutely amazing. At school she pulls me up

stairs, and she helps me everywhere. She is just

the one of the best things that has ever happened

to me in my life. Elsje is very funny, and we laugh

about the stupidest things. She isn’t scared to

do anything, lives her life at 150% and takes me

with her everywhere. I don’t know what I would

do without Elsje, or my other friends Erin, Adriani,

Simone, Erika and Inge. They make me who I am

today.

Finally I asked her to share a bit about her little

brother, who unfortunately also has dodgy genes

(we must have got them at a bad jumble sale). I

think I’m fortunate that I don’t have a sibling with the

same sucky jeans as mine (my sister has Levi’s). I

don’t know how I’d feel knowing someone so close

to me has the same challenges I face.

My little brother Simon is twelve years old and

also has FA. He is shy, and is quite anxious about

the future as the thought of being the boy in the

wheelchair is terrifying. But he has a heart of gold

and I try to help him look at it in a more positive

way. Simon has a great sense of humour and

loves making people laugh.

Ok, so about my celebrity meeting! I love

Ed Sheeran. His lyrics are so powerful and

meaningful and his songs inspire me because he is

a normal guy who got bullied when he was little

about the way he looked. He kept believing in

himself and is now the best-selling touring artist

in history. When I met him, I just couldn’t believe

it was happening. He was SO nice and down to

earth. He went on his knees to look me in the eye

and talk to me. I still can’t believe it happened,

but my whole room is full of Ed Sheeran posters

and pictures and all kinds of stuff. So every morning

when I wake up I remember this special day.

I also asked Leila to share a little bit about her best

friend because I’ve seen a few posts on her parents’

social media about her and I know how important

my own friends are to me.

I am so thankful for my family, they are so

supportive and I couldn’t have asked for better

people in my life. When times are tough, they are

always there for my brother and I and I just love

them so very much.

So, there it is guys. Thank you for letting me

introduce you to my hero, and please check out her

YouTube channel so you can see more of that light

I was talking about.

It really rips my heart out when I see young kids

having to deal with this train wreck of a body we’re

all forced to deal with. But with the strength of

character and positive attitude to life I can see in

Leila I just know we have a rock star in our midst

who is going to do gargantuan things. Watch this

space!

Healthy

MEDICATIONS & SUPPLEMENTS


Parent Project Muscular Dystrophy (PPMD)

The information on this page represents the recommended

standard of care for Duchenne muscular dystrophy. Most of

the care recommendations also apply to Becker muscular

dystrophy, but at older ages. Most, but not all, people with

Duchenne are males—but the care recommendations apply

to both males and females with Duchenne.

If you don’t understand any of the medical terms and concepts,

ask your healthcare providers. Take notes and ask

questions during your clinical visits.

MEDICATION & SUPPLEMENT FACTS TO

REMEMBER

Steroids are the only medicines known to improve strength

in people with Duchenne.

Other medications commonly prescribed for Duchenne

include those to support the heart, breathing muscles, bone

health, gastrointestinal symptoms, hormone levels, and to

manage pain.

USE OF SUPPLEMENTS IN DUCHENNE

There are many different medicines and supplemental

treatments that are used for Duchenne, although there is little

agreement (among parents, researchers, and clinicians) about

how useful they are.

The experts who created the Care Considerations guidelines

reviewed published data on substances that are sometimes

used for Duchenne treatment, to see if there was enough

information to make recommendations.

The experts found:

• The use of oxandrolone, an anabolic steroid (a different

type of steroid that is typically misused by athletes to

become stronger), is not recommended.

• The safety of Botox has not been studied for the treatment

or prevention of contractures and is not recommended.

• There was no evidence to support the wide use of creatine.

A randomised controlled trial of creatine in Duchenne did

not show a clear benefit. Anyone who is taking creatine

and has kidney problems should stop taking it right away.

• There is not enough information to make recommendations

about other supplements or other drugs that are sometimes

used in Duchenne treatment, including:

o Co-enzyme Q10

o Carnitine

o Amino Acids (glutamine, arginine)

o Anti-inflammatories/antioxidants (fish oil, vitamin E,

green tea extract, pentoxifylline)

o Herbal or Botanical Extracts

The experts agreed that more research is needed to

make recommendations about supplements and other

medications. They encouraged clinical trials on supplements

and encouraged families to be involved in registries like The

Duchenne Registry to gather more information.

MEDICATIONS THAT MAY BE PRESCRIBED IN

DUCHENNE

Below is a list of medications that may be prescribed by your

primary care providers or neuromuscular teams. NO

medication or supplement should be started without a

36

Healthy

discussion with your primary care provider or

neuromuscular team.

Steroids (Corticosteroids)

Corticosteroroids [sic] (steroids) are medications that are

commonly prescribed to people living with Duchenne

somewhere around age 4 years. Steroid regimens will be

managed closely by your Neuromuscular Specialist (NMS).

….

EXONDYS 51

EXONDYS 51 is an “exon skipping” medication approved

to treat patients who have a specific genetic mutation that is

amenable to skipping exon 51. …. EXONDYS 51 has been

shown to improve skeletal strength and function of people

taking this drug.

Cardiac Medications

Angiotensin-Converting Enzyme (ACE) Inhibitors (i.e.

Lisinopril, Captopril, Enalapril)

These are typically the first type of medication prescribed

by cardiologists in Duchenne. These medications work by

helping the blood vessels coming from the heart to relax and

open up, making it easier for the heart to pump blood out

to the body. ACE inhibitors also lower the amount of water

your body retains. This along with widened blood vessels

decreases your overall blood pressure. ACE inhibitors

usually have no side effects, especially if they are started at

low doses and are increased slowly.

Angiotensin Receptor Blockers (i.e. Losartan)

Occasionally, patients will develop a cough from ACE

inhibitors. If this happens, your cardiologist may choose to

switch you to Angiotensin Receptor Blockers (ARBs). ARBs

work similarly to ACE inhibitors, but do not cause cough as

a side effect. ACE inhibitors are usually chosen over ARBS

to start because they have been used a great deal in pediatric

patients, and have been found to have very little risk. With

both ACE-Inhibitors and ARBs, It is important to regularly

check your blood pressure so it does not get too low.

Beta-Blockers (i.e. Propranolol, Metoprolol, Carvedilol)

These medications work by slowing the heart rate down.

When the heart beats slower, it is able to fill and pump more

effectively. Beta-blockers can make patients feel a little

sleepy when they first start taking them. This sleepiness is

usually less if beta-blockers are started at a low dose and

increased slowly over time. It is helpful to note when

increasing doses, to do it over the weekend – if the new doses

is [sic] started on Friday, by Monday, any tiredness caused by

the increased dose is usually gone. It is important to regularly

check the heart rate, so that it does not get too slow.

Aldosterone Antagonists (i.e. Eplerenone and

Spironolactone)

Eplerenone and spironolactone are in a class of medications

called aldosterone antagonists. These medications are used to

help lower blood pressure by decreasing the volume of blood

in the body that the heart needs to pump and circulate. Early

studies have also shown that eplerenone or spironolactone,

when taken in combination with ACE inhibitors or ARBs,

may delay the development of fibrosis in the heart muscle.

It is hoped that delaying fibrosis, we will also delay the

onset of heart dysfunction. In studies, treatment in

younger patients seemed to lead to a longer delay in the

development of fibrosis. As with ACE inhibitors, it is

important to regularly check blood pressures, so that they do

not become too low.

Gastrointestinal (GI) Medications

Stool Softeners (i.e. ducosate, Miralax, glycerin

suppositories)

Constipation can be a very real, and quite debilitating

problem for people living with Duchenne. Not having a

bowel movement at least every four days can lead to chronic

issues with constipation. Chronic constipation may lead to

other conditions including stomach pain, bloating, painful

bowel movements, reluctance of the patient to want to move

their bowels (because it hurts!), as well as painful tiny tears

in the rectum and lower bowel (called “fissures”) that cause

bleeding and pain. Chronic constipation can also lead to

problems breathing when abdominal distention restricts your

ability to take deep breaths.

Medications (such as the examples listed above) may be

prescribed. Stool softeners do not do anything to increase

the frequency of stool, but soften the consistency of the

stool so that it is more easily passed. Concerns have been

raised about the use of Miralax in children — consult your

physician before using this common stool softener

medication.

Proton Pump Inhibitors (i.e. Priolsec, Prevacid, Protonix)

People taking steroids often complain of gastroesophogeal

reflux (also called reflux, acid reflux, or heartburn). Too

much acid in the esophagus (which connects your throat

to your stomach) can lead to the development of ulcers,

which can cause pain and bleeding. Proton pump inhibitors

prevent the production of acid in the stomach. Less acid in the

stomach means less acid that may be available to go up into

the esophagus and cause symptoms.

Antacids (i.e. Tums, Rolaids, Alka-Seltzer)

Antacids do not prevent the production of acid, but

“neutralize” the acid that exists in the stomach. Neutralized

acid does not cause burning. Therefore, if the neutralized

acid does go up into the esophagus, there will not be a

burning sensation.

Bone Health Medications

Bisphosphonates

Bisphosphonates are medications given to treat osteoporosis

(weakening, thinning bones). Bisphosphonates can be given

orally (by mouth) or through an IV. The goal of

bisphosphonate therapy is to increase the density of the bones

of the body, including the vertebrae in the spine. Increasing

the density of bones puts you at less risk for a fracture.

37

Healthy

Non-Bisphosphonate Medications

Forteo (Teriparatide)

Forteo/teriparatide, is a synthetic parathyroid hormone. The

action of this medication is to regulate calcium metabolism

to promote the growth of new bone. Forten is given by daily

injection at home, usually for 24 months. Forteo/teriparatide

is not approved for pediatric patients and includes a black

box warning (strongly contraindicated) for children/young

adults who have skeletons that are still growing/maturing

(may cause the development of osteosarcoma, a malignant

tumor on bone).

Prolia (Denosumab)

Denosumab belongs to a drug class called “monoclonal

antibodies,” which act to prevent the breakdown and

resorption of bone in the body. It is given by injection (at

home) every six months. This medication is not yet approved

in pediatrics.

Calcium Supplement

Calcium is important for keeping bones and teeth healthy.

There are recommendations for the amount of calcium

you need daily, according to age. If you diet is found to be

lacking in calcium, a supplement may be prescribed.

There are two forms of calcium supplements: calcium

carbonate and calcium citrate. Both forms of calcium

generally contain vitamin D as well, ranging from 200 – 400

IU/tablet.

Calcium Carbonate often comes in the form of antacid

medication (Tums, etc.), and generally contain 200 – 400

mg of calcium/tablet. Using calcium carbonate may enable

management of GI symptoms, as well as supplement

calcium.

Calcium Citrate is better absorbed than calcium carbonate,

especially in patients also taking H2 receptor agonist or a

proton-pump inhibitor for gastric acid issues. Calcium citrate

is slightly more expensive and comes in a rather large pill

size, making it difficult for some patients to take.

Growth and Puberty Medications

Growth Hormone

The pituitary gland is a tiny gland in the brain that releases

growth hormone. Long term steroid therapy may lead to short

stature in people with Duchenne. There are some people who

have low levels of growth hormone, known as a “growth

hormone deficiency.” Growth hormone deficiency is

diagnosed by an endocrinologist who performs a blood

test called a “growth hormone stimulation test.” If growth

hormone deficiency is diagnosed, supplemental growth

hormone may be prescribed. Growth hormone is given by

injection (“shot”) over a period of time to help with growth.

Discuss the risks and benefits of growth hormone before

starting this therapy.

Some people who take steroids may be shorter than

other people their age, but may not actually have a growth

hormone deficiency. At this time, growth hormone is not

recommended for people who do not have growth hormone

deficiency, regardless of their height. ….

Testosterone

Testosterone is the “male sex hormone” that is responsible

for the changes that happen to males during puberty (i.e.,

increased size of the testicles, facial/axillary/pubic hair,

etc.). Testosterone also helps to strengthen bones. Long term

steroid therapy may lead to delayed puberty in

people with Duchenne. Not starting puberty when others

your age start can be very emotionally difficult. People who

do not start puberty by age 14 years should be referred to an

endocrinologist for evaluation. If puberty is delayed,

testosterone can be given by injection (shot), gels or patches.

ANESTHESIA AND PAIN MEDICATIONS

There are many medications that may be used for

anaesthesia and pain. All medications used for pain and

medications should be used carefully. Because this area is

quite complicated, we have created a page discussing all of

these medications.

VACCINATIONS

It is important for people with Duchenne to follow

recommended vaccination guidelines. However, steroid

therapy may affect the types of vaccinations you can receive.

Please visit our vaccinations page to read more about which

vaccinations are safe to receive while on steroid therapy.

Article available at: https://www.parentprojectmd.org/care/care-guidelines/by-area/supplements-and-medications/

“Always remember you are braver than you believe, stronger than you seem,

smarter than you think and twice as beautiful as you’ve ever imagined.” –

Dr. Seuss

38

Healthy

Physiotherapy

By Emily Malcolm


Muscular Dystrophy News Today

Muscular dystrophy refers to a group of disorders that cause

progressive muscle weakness and loss of muscle control.

There are many types of muscular dystrophy, with distinct

treatments and needs.

But for all dystrophy types, physiotherapy is one approach

that may help to slow disease progression, maintain quality

of life, and reduce pain.

What is physiotherapy?

Physiotherapy, or physical therapy, is a treatment approach

that aims to help patients maintain mobility and reduce pain

through massage, exercise, education, and advice.

Patients should begin working with a physiotherapist as soon

as possible after being diagnosed with muscular dystrophy.

How can physiotherapy help patients?

Physical therapists help children with muscular

dystrophy manage complications, such as muscle weakness

and contraction caused by disease progression.

Physical therapists identify areas of muscle weakness,

and work with the child to keep their muscles as flexible

and strong as possible. They can also teach stretching

and muscle exercises that can be done at home, as well as

make recommendations for physical education and

accommodations at school.

Every child will have unique needs and may be affected

differently by the disease. Physical therapist work with

children, their parents, and their care team to develop a

treatment plan customized to the child’s needs.

If orthotic devices such as braces are required, the physical

therapist will work with the care team to find the right type

of brace and ensure the child maintains as much mobility as

possible for as long as possible.

Some patients may have trouble with daily tasks, like

eating, due to muscle weakness or difficulties with

swallowing. Physical therapy can identify exercises that help

to strengthen throat, jaw and tongue muscles to address these

problems.

Depending on the type of muscular dystrophy, physical

therapists can help slow the loss of range of motion, muscle

strength, daily function, and gait and posture. Physiotherapy

may also help reduce the pain patients may be experiencing

as a result of muscle weakness or cramping.

Physiotherapy in clinical trials

A survey of physiotherapy clinical trials was published in

the journal PLOS One. The study examined the records of

muscular dystrophy clinical trials going back to 1978.

Almost all trials showed some improvement in patient

outcomes as a result of physiotherapy.

However, because of small sizes of trial groups and their

diverse populations, the survey failed to show any

significant improvement in patient outcomes as a result

of physiotherapy. Its authors recommended that a large,

multi-center clinical trial be carried out to establish

guidelines for physiotherapy in muscular dystrophy.

Article available at: https://musculardystrophynews.com/

physiotherapy/

39

Congratulations! You did it!

Our achievers at Gauteng Branch

Name: Avuyile Sithumbu

Diagnosis: Unspecifi ed MD

Gender: Male

School: Adelaide Tambo

Passed with: National Senior Certifi cate with college

entrance

Name: Mere Motsidi

Diagnosis: SMA

Gender: Male

School: Tlamelang Special School

Passed with: National Senior Certifi cate with university

entrance

Our achievers at Cape Branch

Our achievers at

Gauteng

The Muscular Dystrophy Foundation, Cape Branch, would like to congratulate Philip Mphela and Zandiswa Semente on their

academic achievements. Philip has completed his diploma in ITC Applications Development at Cape Peninsula University of

Technology. Zandiswa has matriculated at Funiwe Secondary School. The Muscular Dystrophy Foundation is exceptionally

proud of you both!

WHEELCHAIRS

ON THE RUN

We sell, repair and hire wheelchairs,

powered wheelchairs and mobility scooters.

011 955 7007

www.wheelchairs-ontherun.co.za

“

424 Ontdekkers Road,

Florida Park, 1709

Established in 2012, Wheelchairs on the Run

has grown into a company that is not too big

to care and not too small to make a difference.

At Wheelchairs on the Run our customers are

offered a variety of products and services at

competitive prices.

”

Sandra’s thoughts on…

Social workers – valuable members

of the multidisciplinary team

By Sandra Bredell (MSW)

When you or a family member or friend receives a

diagnosis of muscular dystrophy or neuromuscular

dystrophy disorder, it can be utterly daunting and

overwhelming. This is not something you can or should

deal with on your own. Usually, a neuromuscular care

team will be part of your journey with this illness. A

social worker plays a very important part in that team

and a valuable part in the lives of those diagnosed with

the illness and their families. It is important to know that

you have someone to talk to who will deal with your

concerns in a confi dential and non-judgemental way.

Sarah Stoney is a social worker at the Children’s

Hospital of Philadelphia, and she describes her role as

follows:

As a social worker, I network with community

organizations and hospital resources to see how we

might best meet a families’ [sic] need ... I work to

help families with a variety of issues, including care

coordination, overcoming barriers to care, school

concerns, insurance issues, transition to adult

care, overall coping with diagnosis and disease

progression, community resourcing for families,

patient advocacy and end-of-life questions and

planning. (Muscular Dystrophy Association, ©2020)

Social workers in the fi eld of disability are trained to

assist with counselling but can also link the patient to

resources to address the practical aspects that the

patient is struggling with. The family and the patient

can also discuss issues related to equipment, housing,

education, transportation and home care with the social

worker. This helps to keep the multidisciplinary team

informed of the challenges you experience, so that

you can work together in fi nding the best solutions to

address the issues (Parent Project Muscular

Dystrophy, ©2020).

Assistance and guidance can also be provided by a

social worker to adjust to the diagnosis, to fi nd

services, to engage with schools and teachers regarding

modifi cations and assessing the local resources

(Parent Project Muscular Dystrophy, ©2020). Social

workers can provide information and guidance on how

to organise and manage your care plan following the

instructions of the medical experts (NYU Langone

Health, ©2020).

The following is also considered valuable input and can

be facilitated by social workers (Mah & Biggar, 2012):

• providing needed information for each family

• organising meetings with other patients or parents

of children diagnosed with the same muscular

dystrophy or related illness (family-to-family

support)

• coordinating networks and resources with the

patients and their families

• integrating the appropriate resources to the needs

of the different stages of phases of the illness

Emotional challenges can occur at any time during the

illness and should not be ignored. It is important to let

the social worker know if the patient or the patient’s

family experience any of these issues:

• fi nding it difficult to socialize with friends;

• experiencing a need to be isolated;

• feeling depressed;

• having trouble sleeping or skipping meals;

• problems with learning at school;

• tending to worry a lot or feeling anxious

continuously

• fi nding it difficult to manage anger;

• struggling to deal with sadness;

• fi nding social adjustment a challenge

42

(Diagnosis and management of Duchenne muscular

dystrophy – a guide for families, 2018)

Together with the patient, the family and the social

worker can find possible solutions to manage conflict

situations and to develop a suitable plan in coping with

stress-related challenges. Mah and Biggar (2012) argue

that each family has its strengths, way of coping,

resources and challenges and a social worker can facilitate

the discussion to unleash this potential resilience.

This way the family network can act as a safety net and

a safe place for the patient and the family.

What social work services does the MDF offer?

• Information on care via referrals to counselling

• Emotional support

• Bereavement counselling and further referrals

when needed

• Links to agencies for nurses and caregivers

• Links to lists of residential care facilities

• Links to schools that are appropriate for children

diagnosed with muscular dystrophy or a neuromuscular

disorder

• Support groups

• Awareness in the community on muscular dystrophy

and neuromuscular disorders

• Adjustment to living with a disability

(Muscular Dystrophy Foundation of South Africa,

2018)

How can a patient or the family access these services?

• Set up an appointment with the social worker.

• Communicate updates such as a change of address

or contact number with the social worker.

• Be specific about your needs.

• Keep to appointments.

• Notify the social worker in time if you cannot keep

the appointment.

Consult the MDF website for contact details: www.

mdsa.org.za

In summary, it is important to realise that the diagnosis

affects the whole family and therefore everyone

needs support. To ensure that the entire family gets the

support they need, the social worker and the

multidisciplinary team should be updated on relevant

information. Social workers play a pivotal role in your

journey – make sure to include them.

References

Diagnosis and management of Duchenne muscular

dystrophy – a guide for families. 2018. https://treatnmd.org/downloads/file/standardsofcare/dmd/uk_english/UK2018FamilyDMDGuide.pdf

Mah, J.K. & Biggar, D. 2012. Psychosocial support

needs of families of boys with Duchenne muscular dystrophy.

https://cdn.intechopen.com/pdfs/38141/InTech-

Psychosocial_support_needs_of_families_of_boys_

with_duchenne_muscular_dystrophy.pdf

Muscular Dystrophy Association. ©2020. Social workers:

Powerful members of your health care team.

https://strongly.mda.org/social-workers-powerful-members-of-your-health-care-team/

Muscular Dystrophy Foundation of South Africa. 2018.

Annual report 2018. Florida.

Muscular Dystrophy Queensland. ©2017. Counselling

and social work. http://mdqld.org.au/get-support/counselling-and-social-work/

NYU Langone Health. ©2020. Support for muscular

dystrophy. https://nyulangone.org/conditions/musculardystrophy/support

Parent Project Muscular Dystrophy. ©2020. Assembling

a care team. https://www.parentprojectmd.org/

care/for-families/assembling-a-care-team/

43

Cape Branch

A warm welcome to Dianne de Graaf

I worked at the Human Sciences Research Council as a Research Assistant

and prior to that at St Luke’s Hospice, where I managed the volunteers. I

enjoy the outdoors so spend much of my free time hiking or going to the

beach in our beautiful city. I enjoy watching and participating in quiz shows.

I am passionate about helping people and look forward to my new challenge

at the Muscular Dystrophy Foundation.

Celebrating the month of love

Our Adult Support Group kicked off the year with LOVE! We celebrated Valentine’s Day and the love we share as

group members was surely felt. Members dressed up in red and white attire in celebration!

The Valentine’s Day group activity had group members’ creativity

flowing. Group members made Valentine’s Day cards in teams to

present to each other. The love was surely felt!

44

OSTRICH FARM EXCURSION

Cape Branch

The Muscular Dystrophy Foundation Cape

Branch started off the school term with an

excursion to Cape Town Ostrich Farm. The

Duchenne boys from Astra School joined in

on the fun. The group had such a great time

and interacted with the animals with such

bravery. The day was such a great success.

Ostrich feeding took place, and the group loved it! With vicious pecking

heads in the palm of their hands, the giggles and shouts the excitement

was heard.

Pictures say a thousand words! Kian Pretorius holding a baby

ostrich, and the moment was priceless.

IN MEMORIAM

Indiphile Swan (29 August 2013 – 15 January 2020)

It is with heavy hearts that we offer our condolences on the passing of Indiphile Swan. Our thoughts

and prayers are with the loved ones.

Condolences to family and friends. Ed.

45

Cape Branch

Tembaletu: Women Youth, and

Persons with Disabilities,

National Department, visit

The Muscular Dystrophy foundation was invited to the NDP

initiative at Tembaletu LSEN School hosted by the NDP

Department for Women, Youth and persons with Disabilities.

The aim of the event was to empower the school as they

provide an essential service to the disabled children in

the community of Gugulethu. The initiative provided an

opportunity for the school managing board to identify areas of

concern within the school setting, ensuring that the needs of

the school is highlighted and addressed appropriately.

The Minister of Presidency for Women, Youth

and Persons with Disabilities, Ms Maite Emily

Nkoana-Mashabane hosted the event, and was

accompanied by ministerial representatives such

as Ms Patricia De Lille, Minister of Public Works

and Infrastructure. The school was granted

funding for teacher support workers and

refurbishing of the schools infrastructure,

amongst other things.

46

Gauteng Branch

Making a difference one step at a

time!

We were fortunate enough to have funding available to assist

some of our members with specialised equipment.

I thank you so so very very much for giving me a wheelchair

that ‘updated’ my old one, which was in terrible shape.

You have given me a heavy duty one that suits my needs as I

am now permanently in a wheelchair. I get around better and

it helps me to be comfortable.

The Muscular Dystrophy Foundation is the best, especially for

helping others in need.

I am truly grateful and very happy.

Best regards

Liliana Snyman with Mulanga and

Rabie Modisane.

Liliana Snyman

We as a family thank the MDF for the motorized wheelchair they

blessed Christiaan with.

Christiaan is 12 years old and is living with Duchenne muscular

dystrophy. He has been in a wheelchair since age 11.

As a single mother, I find it is a daily struggle to cope. A lot of

prayers and tears have happened throughout the journey, and I

thank God everyday for wisdom and strength.

After contacting the foundation, Mr Rabie and the social worker

Mulanga came to visit us at our home. They saw the urgency of

Christiaan’s needs and responded quickly.

This chair makes our lives a lot easier and gives Christiaan more

independence. We are very thankful for the efforts and caring of

the foundation towards my son`s needs.

Also special thanks to Mulanga for her caring and support towards

us as a family.

Sincerely

Sandra Etsebeth

Christiaan Smith with his family.

47

Gauteng Branch

Old Mutual bringing hope

We would like to thank the Old Mutual Foundation for their generous grant which enabled us to assist

four young members with motorized wheelchairs.

Rudolph, Asange, Thoriso and Samagaliso all received their new chairs. Thank you Old Mutual, your

support brought hope!

To: Muscular Dystrophy Foundation of South Africa – Gauteng Branch

I would like to thank the Muscular Dystrophy Foundation of South Africa – Gauteng Branch for buying a

wheelchair for my son Thoriso Mokhwae in North West (Morokweng).

I am so happy because my son used to struggle with a normal manual wheelchair but is now so happy

to drive around without calling for help. I would like to thank the one who bought this wheelchair and Mr

Modisane, General Manager of the Muscular Dystrophy Foundation of South Africa – Gauteng Branch.

From

Nelly Mokhwae (mother) and Anna Mokhwae (grandmother)

48

Gauteng Branch

Awareness Day at Varsity College in Pretoria

On 19 February 2020 the Muscular Dystrophy Foundation of South Africa was invited to Varsity College

Pretoria’s NGO Day.

The day was attended by many students who showed an amazing interest in our stall. Approximately 40

students visited the stall on the day to learn about the Foundation and muscular dystrophy.

Welcome to MDF, Gauteng Branch

My name is Moipone Vinoliah Molefe and I am passionate to work

with people despite their challenges. I am a young South African

who believes in contributing positively in our society. Professionally

I am a social auxiliary worker and for self development I am doing

young leaders programmes. I previously worked at SANCA Central

Rand as social auxiliary worker and at Ntsoanatsatsi Educare Trust

as orphan and vulnerable children facilitator, and currently i am so

happy to have joined the Muscular Dystrophy Foundation team. I am

willing to contribute my skills and knowledge within the organisation

and with colleagues.

49

Gauteng Branch

What a time to make a difference!

The Muscle Riders once again had an amazing turnout in November 2019 as the famous Discovery 947 Ride

Joburg took over the streets of our city.

Muscle Riders from far and wide took part in the kids’ race, mountain bike race and road race events, all in support

of those affected with muscular dystrophy.

On 10 November, over 20 mini-Muscle Riders put on their jerseys and gathered at Steyn City for the kids’ race.

They may be small, but oh boy are their hearts big! Their determination and spirit was something to behold. To see

such young children doing their part to help those less fortunate is something we should all aspire to.

In addition, Muscle Riders were also there on the same day to do the mountain bike event. We don’t stop no

matter the terrain . . .

The annual appreciation function was held on 16 November and the Muscle Riders (big and small) gathered at

the MDF offices in Florida Park to mingle, have a bite to eat and collect the all-important race packs. We may all

come from different walks of life, but the common goal of helping those affected with MD brings everyone together

under the Muscle Riders banner.

After the day everyone retreated for a good rest; the big day was coming into view!

The alarms began to ring and many sleepy eyes began to open. We started our trip to Riversands Commercial

Park for there was a job that needed doing on this 17th day of November.

MDF members made their way into the hospitality village and set up alongside our fellow Muscle Riders. This was

to be home base for the day. The sun rose and the heat began. Not long did we have to wait before the Muscle

Riders began to cross the finish line – each one signalling another victory for those affected with MD.

We would like to thank all the Muscle Riders, Glencore Cycle Club, Luso Cycle Club and our supporters for their

amazing turnout and effort, which made 2019 an incredible success for the Muscle Riders!

50

Gauteng Branch

51

KZN Branch

MDF KZN Officially Launches “My Support Means Hope”

2020 Fundraising Drive

After a pilot run of the project during Muscular Dystrophy Month in September 2019, the KZN Branch officially

launched their “My Support Means Hope” fundraising drive between 28 February 2020 and 1 March 2020, thanks

to Pick n Pay Hyper by the Sea in Durban North.

A dedicated team of volunteers and the project leader, Krish Viranna, got into action early on the day of the

launch to set up before the hyper store opened its doors to shoppers.

On-going messages received from Krish Viranna during the day of the launch confirmed a buzz in activity and

increased sale of stickers and other promotional items.

The idea of the “My Support Means Hope” project was discussed at length during the branch executive

committee strategic planning session early in 2019, and it was decided to start with 100 stickers to be piloted

during Muscular Dystrophy Month in September last year. “The pilot run was a huge success and we went back

to the drawing board to broaden the project” says Raj Mahadaw, the treasurer for the KZN Branch. At that stage

we sold stickers for R10.00 but the branch executive committee made a decision to reduce the price to R5.00 as

there was a need to cover a wider area in KZN.

In order to do this, we roped in the project leader with a dedicated team of volunteers to assist the branch, and

we have a standing order of 10 000 stickers over the next 12 months. Each month the project team will draw

2 000 stickers from the supplier as their targeted sales. The “My Support Means Hope” sticker project is set to

bring in at least R50 000 by the end of 2020.

Project leader Krish Viranna is making an appeal to all interested volunteers in KZN and those who want to

become project leaders in their respective areas to contact him on 031-332 0211 so the project can be spread

out to all communities within KZN. You can also email Krish on ProjectsKZN@mdsa.org.za or Accountskzn@

mdsa.org.za.

The MDF KZN wishes to place on record our sincere thanks to the management and staff of the Pick n Pay KZN

Regional Office and Pick n Pay Hyper by the Sea and to all shoppers who contributed in purchasing stickers,

promotional items or made donations during the launch.

52

SOMEONE I LOVE

Needs a Cure

Please Support

MUSCULAR DYSTROPHY

AWARENESS & RESEARCH

WE NEVER GIVE UP HOPE

Contact us for further information:

The term muscular dystrophy (MD) describes a disorder

that affects the muscles, resulting in progressive

wasting and weakness of the muscle. Symptoms may

appear at birth, in early childhood, or later in life.

Neuromuscular disorders affect not only the muscles

but also the nervous system.

Individuals of either sex and all ages

and ethnic backgrounds can be

affected by MD.

NATIONAL OFFICE

Tel: 011 472-9703

E-mail: national@mdsa.org.za


CAPE BRANCH

(Western Cape, Northern Cape & part of Eastern Cape)

Tel: 021 592-7306

E-mail: cape@mdsa.org.za

GAUTENG BRANCH

(Gauteng, Free State, Mpumalanga, Limpopo & North

West)

Tel: 011 472-9824

E-mail: gauteng@mdsa.org.za

KZN BRANCH

(KZN & part of Eastern Cape)

Tel: 031 332-0211

E-mail: kzn@mdsa.org.za

MDF Magazine Issue 61 April 2020 (2)

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