Touching Lives - September 2014
A new medicine to help children with Duchenne muscular dustrophy
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.” Tom fell over a lot and walked with an awkward gait.
A specialist diagnosed femoral anteversion – a problem with the way Tom’s thigh bones were aligned. Rebecca and husband Gary were told this would right itself in time, and not to worry. When Tom started school, Rebecca insisted on a referral to a paediatrician who explained that several conditions might be causingTom’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 muscular dystrophy.
Children affected by this rare disease suffer a relentless deterioration of their physical abilities.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, two years on, you feel your heart crack and smash.”
Sadly, further tests revealed that Tom has the severe form of the disease known as Duchenne muscular dystrophy. By 10 to 14 years of age, boys with Duchenne lose the ability to walk and require a wheelchair full time. Advised by Great Ormond Street Hospital to be proactive, Rebecca and Gary bought a dilapidated bungalow to adapt for Tom and plan to build a hydrotherapy pool. “The warmer water is perfect for doing Tom’s stretches and good for pain management,” Rebecca notes.
As a parent, it is difficult to know how honest to be when Tom asks questions, Rebecca finds: “If my son asks me when he will be able to hop, how do I answer that?” New types of gene therapy may be able to treat some but, at present, not all boys with Duchenne. So Rebecca is encouraged by the work led by Professor Volker Straub at
Newcastle University. The focus of the project, funded by Action Medical Research, is to develop a new medicine that could increase muscle strength and slow down disease progression, by reducing calcium overload in the muscles, and thus improve quality of life. For Tom, this could mean he walks for longer and keeps upper body skills such as feeding himself for longer, too.
“These potential treatments mean everything to us,” says Rebecca. “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.”
This project is supported by generous donations from The Henry Smith Charity and The Catherine Cookson Charitable Trust.