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Six-year-old James Ramirez is an outgoing, sweet boy. When he’s not in school, James, an only child, enjoys watching “The Magic School Bus” and dinosaur movies, playing with his Hot Wheels cars, and listening to rock music. His mother, Samantha, describes him as a “little goofball who is full of energy.”
While he may be energetic, as much as he tries, James just cannot keep up with other kids his age because his muscles don’t work as well as theirs.
At first, James’ parents just thought he was a little smaller compared to other kids. But, on top of his small stature, James’ parents saw other concerning signs.
“He could only go up steps one foot at a time. He couldn’t run like the other kids. And when he jumped, he couldn’t get two feet off the ground,” Samantha noted.
Some people at James’ preschool noticed these signs as well, including a physical therapist who had a cousin with Duchenne muscular dystrophy (DMD). So, at 5-years-old, James was taken to the doctor for blood tests to help zero in on a diagnosis.
While Samantha clung to hope that James was just a small child, her hopes were dashed when the pediatrician returned with the results. James had a high blood count and the doctor suspected he had DMD.
“I didn't even know what DMD was. All I know is the pediatrician told me that James would need a wheelchair by the time he was 12 and that his life expectancy was 20 to 30 years,” said Samantha. “I was blown away, really. James was with me at the time, so I had to look the other way and not look directly at him. I was trying not to get upset in front of him. It was really, really tough at first.”
The official diagnosis of DMD came on September 6, 2016 – on James’ first day of kindergarten.
By then, Samantha had already done her research and learned that DMD is an inherited disorder of progressive muscular weakness that typically affects boys. It’s a rare disease with fewer than 200,000 cases in the US per year. James and other patients with DMD may experience:
Loss of muscle
Permanent shortening of the muscle
Currently, there is no cure for DMD, but physical therapy and medications, such as corticosteroids, can help control symptoms and improve quality of life. Samantha is hoping that James can begin a clinical trial of an experimental drug through Nationwide Children’s Hospital in Columbus, Ohio in March 2018.
“What this drug can do is just stop DMD in its tracks pretty much. Give James an asymptomatic life. It’s real promising,” said Samantha.
In the meantime, James endures regular visits to the doctor including physical therapy, occupational therapy, and speech therapy. He does lots of stretching and has to take his Deflazacort steroid medication daily.
“He has to deal with a lot, but he rarely complains,” remarked Samantha.
James has adapted to his change in lifestyle very well. He lets people carry him upstairs and rides in a wagon when his family goes places that require a lot of walking.
“He knows he has Duchenne's, but I didn’t tell him the whole deal about it. He’s only 6,” said Samantha.
James’ parents have plugged into a support network of others with DMD and have emerged with a great sense of hope.
“The clinical trial drug was approved a week after James was diagnosed and James was diagnosed 1 day before DMD Awareness Day. To me, that’s something,” noted Samantha.
Samantha stresses the important role that donations play in continuing to fund scientific research to help find a cure. “DMD is something people have been fighting for years and years. So many people have been lost from it. But now this generation has a chance to live and say they survived DMD. They all need a chance to survive this brutal disease.”
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With your help, the AANEM Foundation can fund research that will improve James’ life and the lives of other patients with neuromuscular diseases. Together we can support researchers that are finding the treatments and cures for tomorrow. Help the next generation of researchers and donate today
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