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, including mild cerebral palsy and dyspraxia. He asked to do a blood test ‘to rule out a couple of rare conditions’ but phoned at 9.00am the next day with devastating news: Tom had Duchenne muscular dystrophy.
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, and the disease is fatal.
“It 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 finding out more about this rare disease” says Rebecca.
Have you been affected by Duchenne muscular dystrophy?
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