Tom was four when he was diagnosed with Duchenne Muscular Dystrophy (DMD). DMD is caused by a defective gene for Dystrophin, a protein in the muscles. Due to the way the disorder is inherited, the condition primarily affects boys and rarely girls.
Tom was diagnosed with Duchenne when he was four, but his parents were concerned about him from his earliest days.
By the time he was 12 months, Tom still had not crawled, while at 18 months of age, Tom was still struggling to walk. Tom’s mother was concerned as she realized that other toddlers could balance better and keep their bodies up straight at 18 months. It was then when she realized that something was wrong and had to ask for help from a specialist.
“The health visitor stressed the importance of ‘tummy time’ to help Tom lift his head, but he couldn’t do it. He just screamed,” his mum remembers. “He was slow to reach milestones like crawling and walking, too.”
When little Tom started school, his mum, insisted on referral to a paediatrician, who explained that several conditions might be causing Tom’s problems. He asked to do a blood test ‘to rule out a couple of rare conditions’. Early the next morning he phoned to announce the devastating news. Tom had muscular dystrophy. Unfortunately, further tests showed that Tom had the most severe form of this genetic condition, Duchenne.
Children who are diagnosed with this rare disease suffer a relentless deterioration of their physical abilities. By 10 to 14 years of age, boys with Duchenne lose their ability to walk and require a wheelchair all day long. Eventually, the body becomes paralyzed and their life will be depended on others. Duchenne can be extremely fatal, although some treatments are available to help slow down the progression, they do not benefit all affected children.
The doctor informed them that there is no treatment for this condition and much worse, he reported that this form was 100 percent fatal.
“It was such a shock. It seemed so improbable that my gorgeous son would eventually become locked in a body he could not move and die”.
Today, Tom is 13 years old, he can no longer walk, or sit up from lying down and relies on a wheelchair. His arms are also starting to weaken.
Read more about Duchenne muscular dystrophy.
You may view the original article here, as published on Action Medical Research for Children.
Photo credit: Action medical research for children.
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