HARLEY Creswick was two when his parents noticed concerning changes in the way he walked.
The infant was dragging his leg, repeatedly falling over, and was almost incapable of climbing the stairs.
His dad, Mark, and mum Dawn took him to their local GP, but were disappointed with the response they received - and it wasn’t until 10 months later that their son was diagnosed with Duchenne muscular dystrophy, meaning he may only live until he is 25.
Mark, aged 36, from High Green, Sheffield, is now campaigning for GPs to be better trained to spot conditions such as Harley’s, so other parents do not experience similar delays.
His appeal comes following the publication of a report by the Muscular Dystrophy Campaign charity, which revealed that nearly half of the region’s patients have had their condition misdiagnosed, with 70 per cent waiting more than a year for an accurate diagnosis.
Almost one in 10 said their GP had offered inaccurate advice in the last year, while the charity said £7m was being spent in Yorkshire and Humberside on unplanned hospital admissions for people with muscular dystrophy every year, caused by sudden falls and infections.
Mark said the wait leading up to Harley’s diagnosis was ‘agonising’.
“We knew something wasn’t right when Harley kept falling over and had difficulty climbing up stairs,” he said.
“When we first visited the doctor’s surgery it was appalling, there was little or no support from the GP, it felt like they weren’t even interested in my son.
“It took 18 months from first visiting the GP to get a diagnosis. It’s horrible to think that other families affected by this condition might have to go through the experience that we did. This needs to change.”
Harley, a reception pupil at Coit Primary School in Chapeltown, was born with muscular dystrophy, even though he wasn’t diagnosed until the age of three, Mark explained.
“He was alright for 10 months, until he just came out of nappies. But then we saw that he was dragging his leg and falling over, and couldn’t climb the stairs. We took him to the doctor’s, but local GPs have such a lack of knowledge. When he got transferred to the paediatricians, they looked at it and realised it was something different.”
Blood samples were taken and Harley was referred to the Ryegate Centre in Broomhill after receiving a full diagnosis.
“There’s a lack of knowledge among health visitors and GPs,” said Mark, who lives with Dawn, 34, and Harley’s little sister Freya, two. “It shows a lack of interest. They should know a lot of different conditions that children can have at those ages.
“The Ryegate Centre are very good, he has been really good up there He has consultations every six months and regular physiotherapy.”
Mark described Harley as a ‘fun loving, outgoing, charming and cheeky’ boy who loves to swim, dance and sing, but added that he faces years of ill health in the future.
“Duchenne Muscular Dystrophy currently has no cure,” he said. “Harley will lose the ability to walk at some point in his adolescence and eventually will lose all muscle function in his body. Like all boys with Duchenne, he will lose his battle for life in his late teens or early 20s from heart or respiratory failure.”
Mark continued: “We need to change the awareness of the condition. Most children are not diagnosed until their first or second year in school.
“They’re often only diagnosed because the school notices, not the GP.
“There’s a potential for better training and more awareness within the NHS. Over 150 children are diagnosed every year in the UK. The sooner a diagnosis is made, the more chance there is to get children on treatment before they end up in wheelchairs.”
The Muscular Dystrophy Campaign believes access to expert advice and information, medical equipment and treatments such as specialist physiotherapy can significantly increase patients’ mobility and life expectancy.
Nic Bungay, director of campaigns, care and information at the charity, said: “The NHS in Yorkshire and Humberside needs to recognise that investment in these services can dramatically reduce emergency admissions and save the NHS money, by keeping people out of hospital.”
Prof Stephen Singleton, interim chief executive at NHS North of England, said: “The NHS strives to deliver high quality care for all its patients. As these specialist services are commissioned locally we would urge anyone who is not satisfied with their treatment or support to contact their local Primary Care Trust.”