Sometimes I wonder why did God pick me to have this? I don't get it. It feels like a some funny some joke or something I don't know. I know God doesn't like do jokes or anything but just I don't get it.
Since he was born, Billy Ellsworth has had a rare condition. He's been struggling with a form of muscular dystrophy called Duchenne or DMD. When it comes to stairs,
It seems like climbing is less of a problem for me.
And while some kids his age are playing fast paced sports,
Now, I don't know what else I can do anything that involves running.
He wants everyone to understand.
I have a muscle problem and I can't help it. I can't run good or fast.
It's even a struggle with the people he's closest to.
Like, I feel like my best friend doesn't get it.
Like he thinks he gets it but I don't think he does. To be honest. He maybe does and I'm not seeing it. I feel that way at least like that I can't do like things that he can do. And like it's harder for me.
Someone who is trying to get it is Dr. Roxana Bendixen, occupational therapist and faculty at the University of Pittsburgh School of Health and Rehabilitation Sciences, or SHRS. According to Dr. Bendixen, the disease affects males and they start to show signs between the ages of three to five years old.
Basically, the muscle fiber dies, and there's necrosis, they lose the ability to walk, they lose the ability to get up off the floor, and are usually in a wheelchair by the time they're 12 years old or so.
Roxanna says it gets worse.
Typically, these boys die from cardiopulmonary issues because they don't have the protective protein on the muscle fibers.
There are many clinical trials focusing on drug treatments for boys with Duchenne. Paula Clemens is a neurologist working with SHRS, who's been studying Duchenne for over 20 years.
Drug development takes a very long time and so the things that we're testing today may be much more likely to benefit the patients of tomorrow, not the patients of today because many many hurdles to get through to determine what are good treatments.
Roxanna is leading multiple studies on DMD for different reasons.
There is no cure for Duchenne. That's not going to be something that I do but if I can make life just a little bit better, you know, then then that's important for me,
Roxanna and her team are looking for ways to as the saying goes, let boys be boys. She is hoping her research will lead to a set of guidelines for parents and healthcare providers to help boys living with DMD stay active longer. In one of her recent studies, the boys wear monitors, like Fitbits, 24 hours a day to gather data on their activity. Amy Anning's son, Matthew, took part in the study.
I want to know how active Matthew is with muscular dystrophy, there's that fine line we don't want to push him too much because we don't want to damage his muscles, but we want them to be able to be as active for as long as possible.
Along with wearing the monitor 24 seven, she also brought Matthew to the University of Pittsburgh for evaluation
They have to do the stair climb, they have to do a six minute walk test. You saw him get up off the floor, see how fast. So there's a series of steps that they do to kind of see where they're at with their physical abilities are.
And just as important as it is to monitor activity. It's also important to look at rest. Anne Germain is an Associate Professor of Psychiatry at Pitt, who studies and measures different aspects of sleep, she will help Roxanna interpret the data from the monitors.
She had noticed that children with DMD have unusual patterns of rest and activity. What she wants to do is expand on this kind of observations and really looking at how sleep may eventually become a target for intervention to optimize functioning in these children during the day.
Everybody can sleep well and there are different kinds of techniques and have the habits that people can take to optimize their sleep quality and the restorative aspect of their sleep.
SHRS hopes this combination of data will provide a wealth of useful information.
So it is providing the information to make better healthcare decisions, to make better clinical decisions or to to prepare families and children for the fact that you know, maybe it's time that we do start backing off a little
Billy also participated in the study. His mom Terry believes it's important to get families involved.
It's non-invasive. And these researchers are trying to help our kids and not just our kids but future generations. It's extremely important.
And how does she want the research to help Billy?
I want him to be successful. I want him to be confident, happy, I want him to be happy. And as he said, I just want a normal life.