LIVING WITH MUSCULAR DYSTROPHY
By: Lethiwe Mdluli
Meet Veronique Cornella- a 50 year old woman from Durban North who has been living with Muscular Dystrophy ever since she was born. She has defied the odds by proving that people with the disorder can live a normal life and enjoy it to the fullest.
Cornellla and her three sisters were all diagnosed with the disease when they were born. They inherited the disease from their parents and have been living with it since. Usually people who have this disorder require extra hands and it is unlikely for them to have a family of their own since their muscles become weak over time. Veronique however, has defied those odds. She has a healthy 26 year old daughter and a loving husband.
According to the Muscular Dystrophy Foundation,Muscular dystrophy, which is sometimes called “inherited myopathy”, or “MD” for short is a group of inherited muscle disorders characterized by gradually increasing weakness and degeneration of the muscles that control voluntary bodily movement. It was first discovered in the 1860s.
The disease may be present in genes without parents realizing it. For example, women may be carriers but be asymptomatic, and the genes that cause it may be recessive. It can only be successfully prevented if all the genetic information about parents, such as family medical history, is available to the medical practitioner. This can be obtained through tests, and partly through genetic counseling. MD can also be detected through genetic studies during pregnancy, allowing the parents to decide whether to continue with the pregnancy or terminate on medical grounds.
Cornella says living with MD has not affected her life in any negative way.
“It’s only by God’s grace that I have lived for so long and I can do the things I can do, I wake up every day and I go down to the beach to work- I sell a lot of things; hairclips, bandanas and also recipe books for the Muscular
Dystrophy Foundation. I started my business 26 years ago when my daughter was born because I wanted to help around the house, “said Cornella.
She is also part of the Muscular Dystrophy Foundation as a committee member.
“I sell recipe books for them at different shopping centers- the money goes towards the foundation, and they are really supportive of us. They help us with wheelchairs, lifting equipment and breathing equipment. They try to make our lives as comfortable as possible.” The Muscular Dystrophy Foundation of South Africa is a non-profit organization that supports people affected by Muscular Dystrophy and Neuromuscular disorders and endeavors to improve the quality of lifestyle of its member,” said Cornella.
There is no specific treatment that can stop or reverse the progression of any form of MD aside from the use of prenatal screening interventions. However, available treatments are aimed at keeping the person independent for as long as possible and prevent complications that result from weakness, reduced mobility as well as cardiac and respiratory difficulties. Treatment may involve a combination of approaches, including physical therapy, drug therapy, and surgery. The available treatments are sometimes quite effective and can have a significant impact on life expectancy and quality of life.
According to an article published earlier this year by Science Daily, researchers at Washington University School of Medicine in St. Louis have demonstrated a new approach to treating MD. Mice with a form of this muscle-weakening disease showed improved strength and heart function when treated with nano-particles loaded with rapamycin- an immunosuppressive drug recently found to improve recycling of cellular waste.
There are currently many research projects in South Africa and worldwide that are working on a cure for this disease.