Tom, now seven, 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.”

Children a ected by this rare disease su er 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-theclock care, and the disease is fatal.

“I know it’s not a cure, but these potential treatments still mean everything to us, they give us hope and they might give us time.”

“Getting a diagnosis was such a shock,” Rebecca says. “It seemed so improbable that my gorgeous son would eventually become locked in a body he could not move, and die. Even now, three years on, you feel your heart crack and smash.”
New types of gene therapy may be able to treat some but (at present) not all boys with Duchenne. Researchers, led by Professor Volker Straub of Newcastle University and funded by Action Medical Research, are in the laboratory stages of testing a much-needed new treatment – with the ultimate hope of improving boys’ lives.

“For Tom this research could mean he walks and keeps upper body skills such as feeding himself for longer, giving him a better quality of life. I know it’s not a cure, but these potential treatments still mean everything to us; they give us hope and they might give us time. They take us a step closer to fi nding out more about this rare disease,” says Rebecca.

To find out more about Action Medical Research’s vital work to tackle rare diseases and to support our appeal visit: http://www.action.org.uk/tom