WHAT IS MUSCULAR DYSTROPHY
Muscular Dystrophy (MD) is the name given to a group of more than 70 different neuromuscular disorders causing progressive wasting and weakness of the muscles. Each type presents differently and with its own levels of complexity. They are characterised primarily by progressive muscle weakness, leading to secondary effects such as fatigue, increasingly limited physical activity, impaired balance, and often collapsing. The prognosis varies according to the type of dystrophy and the speed of progression. Some types are mild and progress very slowly, allowing normal life expectancy, while others are more severe and result in functional disability and loss of the ability to walk. These disorders affect children and adults of every race. The disorders are usually inherited, with the defective gene being passed on from one generation to the next. However, MD can also occur in families where there is no prior history of the condition. To date there is no cure available for MD.
SPINAL MUSCULAR ATROPHY
Tasnim Jadwat Casoojee is but one of the mother’s with a child diagnosed with MD. Her 8-year-old daughter, Iman, was diagnosed with Spinal Muscular Atrophy (SMA) Type 1 when she was only 9 months old. SMA is a degenerative genetic disorder and is considered the number one genetic cause of infant death, with infants often not reaching their second birthday. There are 4-5 different forms of SMA, varying according to severity of the condition, with type 1 being the most severe. Since SMA is a degenerative condition, muscle wastage occurs with time, disabling an individual and making them susceptible to respiratory infections. In some of the more severe forms, the ability to swallow, talk and even to smile is lost. A simple cold or flu if not treated in time can result in death.
“When someone tells you your child is going to die you feel as though every ounce of air in your body is removed and that your heart has been perforated” Tasnim says. Today Iman is a happy little girl with a bubbly personality. She is looking forward to starting a recently approved treatment for SMA, labelled Spinraza. It is however not available in South Africa yet. This treatment hopes to make a difference in the lives of many affected with SMA.
The Casoojee’s, along with other families, look to the Muscular Dystrophy Foundation of South Africa for emotional support and financial assistance to procure specialised disability equipment such as canes, walkers, motorised wheelchairs, bath lifts, raised toilet seats, etc. The mission of the Foundation is to support people affected by MD and endeavour to improve the quality of life of their members. Although MD is destructive physically, the psychological and emotional issues related to physical disability can cause serious challenges. The emotional wellbeing of our members is of utmost importance and therefore the Foundation provides individual- and family therapy, as well as referral to support groups.
MUSCULAR DYSTROPHY FOUNDATION OF SOUTH AFRICA
Tel: 011 472-9703
(Western Cape, Northern Cape & part of Eastern Cape)
Tel: 021 592-7306
(Gauteng, Free State, Mpumalanga, Limpopo & North West)
Tel: 011 472-9824
(KZN & part of Eastern Cape)
Tel: 031 332-0211