Sunday, February 19, 2012

Lives cut short



For boys born with Duchenne Muscular Dystrophy, playing ball would be a dream come true
Imagine your baby son learning to sit up, crawl and take his first steps.
It’s milestones like these that parents remember forever, but for some parents it’s a joy short-lived as their son is headed for a life in a wheelchair due to muscular dystrophy.
Muscular dystrophy is a neuromuscular, genetic disorder which results in the progressive deterioration of muscle strength and function.
The most common form in childhood is Duchenne Muscular Dystrophy (DMD), and it’s the number one genetic killer of boys in the world.
Next week is Duchenne Awareness Week, so I hope today’s column raises your awareness and perhaps inspires you to help in some way.
DMD occurs when there is a mistake in the gene responsible for producing dystrophin, the protein that maintains the structure of our muscle membrane. 
“Genetic” does not mean it is confined to certain family trees.
In more than a third of cases, the genetic mutation happens spontaneously, without any previous family history.
DMD affects one in every 3500 boys around the world.

Due to progressive deterioration of muscle, loss of movement occurs eventually leading to total immobilisation.
When a boy is diagnosed with Duchenne he will lose he ability to walk somewhere between the ages of seven and 13 years and is usually dependent on a wheel chair by the age of 12.
Arm strength is gradually lost, making simple everyday activities we take for granted such as cleaning teeth, turning pages of a book and giving a loved one a hug, impossible.
As the disease progresses to the heart and breathing muscles, the boys cannot breathe unaided and their heart loses the ability to pump effectively.
DMD has a 100 per cent fatality rate so naturally when a child is diagnosed it is heartbreaking for the whole family.
Life expectancy for this disorder is usually only until early adulthood, therefore time is the most precious commodity of boys with DMD. 
In the 1960s, the likelihood of a boy with DMD reaching the age of 25 years was zero. By the 1980s, 12 per cent of boys with DMD lived to 25. By the late 1990s, this climbed to 52 per cent.
The Duchenne Foundation provides support to families living with Duchenne, raises community awareness and vital funds to support research and quality of life issues.
Australian scientists are leading contributors to global efforts to find cures for Duchenne and other muscular dystrophies.
For example, in Western Australia, scientists have developed compounds designed to encourage cells to skip over any type of genetic error (called exon skipping). Clinical trials will start this  year on DMD patients aged in their 20s.
There is also a great deal of research into development of therapies, prolonging mobility and the strength of the limb and breathing muscles of boys with DMD.
The research and trials cost millions of dollars, yet receives no government funding.
Donations are tax deductible and can be made at the Foundation’s website www.duchennefoundation.org.au or at www.blueball.org.au
If a cure is found in the next five years, the boys diagnosed today could possibly walk, play and enjoy a long and fulfilling life.

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