MDF Magazine Issue 64 April 2021

PEOPLE
Rare diseases day 2021
Rare Disease Day takes place on the last day of
February each year. The first Rare Disease Day
was celebrated in 2008 on 29 February, a “rare”
date that happens only once every four years.
Ever since then, Rare Disease Day has taken place
on the last day of February, a month known for
having a “rare” number of days.
The main objective of Rare Disease Day is to raise
awareness about rare diseases and their impact
on people’s lives. Muscular dystrophy is one such
rare disease.
Muscular dystrophy is a group of diseases that
cause progressive weakness and loss of muscle
mass. In muscular dystrophy, “abnormal” genes
(mutations) interfere with the production of
proteins needed to form healthy muscle. There
are many kinds of muscular dystrophy. Symptoms
of the most common variety begin in childhood.
Other types don’t surface until adulthood. These
disorders affect children and adults of every race.
The disease is usually inherited, with the defective
gene being passed on from one generation to
the next. To date there is no cure available for
muscular dystrophy.
Doné and Hanti is but one of the parents with a
child diagnosed with Muscular Dystrophy. Their
5-year old son, Lian, was diagnosed with of
LMNA-related congenital muscular dystrophy
when he was only a couple of months old. LMNA-
CMD is predominately congenital and on the
severe end of the spectrum. Affected individuals
have weak neck and axil muscles, can develop
“dropped head” syndrome and may not achieve
sitting. Contractures of the, spine, hips, knees and
Achilles tendons are involved. Scoliosis and spine
rigidity can develop. Some affected individuals
can achieve walking but will lose that ability later.
Respiratory insufficiencies develop requiring
intervention. Cardiac conduction abnormalities
can occur.
Doné and Hanti explains that “Small things that
come with no effort for us are a huge challenge to
him, like simply lifting his arms. However, none of
these challenges can dampen the brave and joyful
spirit of this young boy. No matter what challenges
Lian faces he always has a smile on his face. He is
a little “chatterbox” who amuses everyone with his
humour and cute personality. He absolutely loves
driving around in his power wheelchair, chasing
his brother and sister around the house. He gets
excited about everything and is always ready for
whatever life throws at him.
If you wonder if there is any joy in raising a child
with special needs? The answer is ABSOLUTELY
YES! We never thought that a small boy of only
five years old could teach us so much about life
and inspire others. Raising Lian opened our eyes
to a world we never would have experienced
otherwise. It teaches you more about patience,
unconditional love, hope and grace. You get a
different perspective on what matters in life. You
suddenly realize that time is a precious gift and
you never know when things might change. You
recognize the significance of the small things in
life. You live in the moment. You find joy in that
“wheelchair chase” around the house or in the
excitement of reaching another milestone – not to
mention the witty comments only special needs
parents would understand.”
For more information about muscular dystrophy
please contact the Muscular Dystrophy Foundation
of South Africa or visit our website at www.mdsa.
org.za.
Your support means hope.
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