You are here:

Tom's story (Duchenne)

Published on


Tom's Story

Tom's story

Duchenne muscular dystrophy

Tom was diagnosed with Duchenne when he was four, but his parents were concerned about him from his earliest days.

“The health visitor stressed the importance of ‘tummy time’ to help Tom lift his head, but he couldn’t do it. He just screamed,” mum Rebecca remembers. “He was slow to reach milestones like crawling and walking, too.”

When Tom started school, Rebecca insisted on a 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’. The next day he phoned at 9.00am with the devastating news: Tom had muscular dystrophy – and sadly, further tests found Tom had the most severe form, Duchenne.

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."

Tom's Mum, Rebecca
Tom and his family
Tom, aged six, and his family.

Children affected by this rare disease suffer a relentless deterioration of their physical abilities. By 10 to 14 years of age, boys with Duchenne lose the ability to walk and require a wheelchair full time. They eventually become paralysed, depending on others for round-the-clock care. 

Sadly, this disease can be fatal and, although some treatments are available to help slow its progression, they do not benefit all affected children.

Tom, with his sister Amy.

Tom is now 13 years old and is following the heartbreaking progression of Duchenne – he can no longer walk or sit up from lying down and relies on a wheelchair. His arms are also starting to weaken. 

This disease will most likely rob Tom of his future, which is why Action Medical Research is funding much-needed research at the University of Oxford, that hopes to identify a new drug treatment that could help combat the symptoms of Duchenne and, ultimately, become an effective new treatment for all children with the condition.

Potential new treatments mean everything to families like ours. Too many parents have lost their children to this horrendous condition. It is the thought of those mothers and fathers that makes me appreciate every second with my son.

says Rebecca.

More family stories

Robbie: cleft palate

Shortly after his birth, Robbie was diagnosed with a condition called Pierre Robin Sequence. He had difficulty feeding and breathing due to a cleft soft palate and a small, receding lower jaw.