Living with SMA (Spinal Muscular Atrophy) in South Africa

SMA & The Bumble Bee Fund
Spinal Muscular Atrophy - in South Africa
Copyright © 1999-2014 Dynaconsult - Last update: April 07, 2014
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Jessica born 15th September 2003
Marc born 11th October 2004
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What is SMA?

1. Is Spinal Muscular Atrophy also known by other names?
There are different forms of this disorder, and the disorder is often referred
to by its abbreviation "SMA". Infantile SMA is also known as Werdnig-
Hoffman disease and Juvenile SMA is also known as Wohlfart-Kugelberg-
Welander disorder, or just Kugelberg-Welander disorder. Most clinicians
refer to and categorise the condition in SMA type 1 (severe and unable to
walk) (infantile; Werdnig-Hoffman disease), SMA type 2 (intermediate
with no or very limited walking) and SMA type 3 (managable with limited
walking) (Juvenile; Kugelberg-Welander disorder).

2. What is Spinal Muscular Atrophy?
Spinal muscular atrophy is a term for a specific disorder occurring following
predestined death of the anterior horn cells. These are the motor units that
control the movement of voluntary muscles. The muscles weaken and waste
away due to the degeneration of the motor neurons. Spinal muscular atrophy
characterizes a group of disorders with varying severity, manifesting mainly in
childhood . . . . . .
For further details: Muscular Dystrophy Foundation of SA

Background of Jessica and Marc

Both Jessica and Marc's have always been able to sit unaided, keep their
heads up, crawl and walk for a few steps! Jessica is generally weak all over
and very thin, but amazingly much more able than her brother. Marc's legs
are weak and thin, but his upper body is stronger.

Jessica and Marc are 13 mths apart. When I took Marc for his 3mth check
up at the Paediatrician I asked him to have a quick look at Jessica as she
wasn't walking yet at 16mths and when sitting used her hand to lift her leg
to put it into position, she also had a constant slight tremor in her hands
and when she stood up she used her hands to "climb" her legs until she
was in a standing position. He immediately picked up that something was
amiss and set us up with a developmental paediatrician who then referred
us to Red Cross Children's hospital. That was the first time we met Prof Jo
Wilmshurst and team. After a year of investigations, blood tests, two MRI's
and a muscle biopsy Jessica was diagnosed with SMA (diagnosis we owe
to the muscle biopsy). We were told of the biopsy result and Jessica having
SMA would live only to her late teens at best. By this time Marc who had
started walking at 12mths was constantly falling, had already lost a tooth
when falling flat on his face while standing still and was also "climbing" with
his hands up his legs to stand. We just knew he too had SMA. So when
they drew blood from Jessica for final confirmation we insisted they do so for
Marc as well. The Professor at the UCT lab doing the test didn't want to test
Marc as he said the chances were very slim for two out of two kids to have
it. Anyway we got their results back on the same day confirming both had
SMA. We met up with Prof Wilmshurst and learn to our relief that both kids
should have a full life barring serious illness.

Jessica is going to big School
as from January 2010

Marc who started walking at 12mths is now crawling everywhere and can't
walk more than two steps unaided without falling. He is normal height for his
age and weights 15.5kg. He is the same height as Jessica and weights 2.5kg
more. People tend to think they are twins as they're the same height. He is
going to start Grade R next year at a new school so we are looking into
"transport" for him. After much discussion with physio's and Prof Wilmshurst
we are probably going to let him use the walker in his class next year (and
hope he uses it!) and get him a scooter for long distances too. He will need
an electric wheelchair very soon as Prof Jo says it's not good for his physio-
logical/social development to be crawling everywhere. He is also unable to
get himself on and off the toilet and can't sit on a normal size toilet easily,
he tends to loose his balance and fall in or fall off! So we are having to send
a teachers assistant with him for two days a week next year. Luckily his
class will have an assistant provided by the school the other 3 days. We
are very unsure about what is best for him next year, so we'll just have to
liase with his teacher and play it by ear. Prof Wilmshurst has also suggest
we start Marc on the drug Salbutomol, it has evidently helped lots of SMA
cases. Yesterday was our first day and it takes approx 3-6mths before you
see results.

The Bumble Bee Fund
Flying against the odds
Aerodynamically, the bumble bee shouldn't be able to fly,
but the bumble bee doesn't know it so it goes on flying anyway!

We strive to better the quality of life of disabled persons by enhancing
their personal mobility and increased personal independance, in
particular, by providing or assisting in the provision of mobility aids.

We are currently in the process of making both Kenridge Pre-Primary
and Kenridge Primary School accessible to the disabled. This
includes installing a lift, drain cover plates and ramps in the school
grounds. Any donation would be greatly appreciated.

Are you considering a donation to The Bumbe Bee Fund - Contact us

Useful SMA Links

Muscular Dystrophy Foundation (MDF) of South Africa

Hope for Cure of SMA

Client Survey Cape Town