Cutting-edge treatments are giving kids with spinal muscular atrophy hope.
Sleep sets the foundation for a child's growth, development, learning and emotional well-being.
After he was diagnosed with a rare bone disorder as a kid, Nick Hora found the care and encouragement he needed at Children’s Wisconsin.
He also found the inspiration that eventually would lead him to a career in medicine.
“I think it was the hours and hours I spent bumming around on whatever floor it was at Children’s Wisconsin, and seeing all sort of other people and all the white coats wandering around in flocks,” said Nick. “That’s kind of what made me think, ‘Will I ever be a part of this?’”
As it turns out, the answer was yes. Nick is a second-year resident in family medicine at the Mayo Clinic Health System in Eau Claire, Wisconsin, working toward a career in pediatric sports medicine.
“My goals were always to be able to be active, and I was able to do that because of the care I received at Children’s Wisconsin,” said Nick. “So I want to give back.”
Nick was living with his parents in Switzerland when he was diagnosed with dysplasia epiphysealis hemimelica, also known as Trevor’s Disease. The family was moving to Wisconsin, and their physician in Switzerland was familiar with the work of John Thometz, MD, an orthopedic surgeon at Children's Wisconsin. He referred the family to Dr. Thometz.
“Nicholas’ problem is very rare,” said Dr. Thometz. “Trevor’s Disease affects maybe one in a million kids. I’ve had a handful of cases in my career that have had this problem.”
According to the National Institutes of Health, Trevor’s disease is a rare nonhereditary skeletal disorder where bone overgrowth occurs at the rounded end of a long bone — in Nick’s case, near his ankle. If left untreated, the condition can cause pain and abnormal bone growth.
Treatment involves surgery to remove the overgrowth. Nick’s first surgery came while he was in 1st grade, and he spent some time in a wheelchair.
“I was fortunate at that time that kids thought it was so cool that I was in a wheelchair, so they all volunteered to push me around in school,” said Nick.
Throughout his childhood, Nick went to Children’s Wisconsin regularly for monitoring to make sure the growth wasn’t coming back. During those frequent hospital visits, Nick began to notice that there often was a fairly large pack of people in white coats accompanying Dr. Thometz into the room to check on him. He wondered who they were, and why they were there.
This curiosity turned out to be the spark that ultimately led him to a career in medicine.
“He always seemed to have like a posse of 10 people with him,” said Nick. “And I was like, ‘Am I really that interesting?’ I think overall from an orthopedic perspective I probably was interesting. But looking back, it’s a really important part of medical education. Now I understand how each patient offers their own unique teaching. Now it’s kind of cool to look back and say, ‘Well, I guess I was one of those people,’ and now I hope all of these people I see with groups of people don’t mind.”
His bone overgrowth eventually did return. After another surgery, he had to begin high school on crutches — not ideal for a kid who yearned to play sports.
It was difficult for Nick to deal with the disappointment that came with hearing that his condition meant that he would not be able to play contact sports such as soccer and hockey. But at the same time, he appreciated his doctors and physical therapists at Children’s Wisconsin understanding that he wanted to be active, and helping him find routes to do so. In Nick’s case, he became a competitive swimmer, and eventually talked his doctors into letting him play tennis.
“I wanted to be active, and I really felt limited by my diagnosis,” said Nick. “It was really, really frustrating. And I would be upset sometimes. I would tell my parents, ‘Why me?’ But over time when you get great care and you get your mobility back, it helps you at least open up to other things that maybe aren’t what you wanted in the first place but will help you be a better person in the long run. And I definitely had that. I had swimming. I swam in college. I think if you had told anyone when I was younger that I’d be a collegiate athlete, that would have been crazy.”
Although he hasn’t formally kept count, Dr. Thometz has had several former patients go on to pursue careers in medicine.
“It’s certainly rewarding to hear that somebody is considering a career in medicine based on their experiences,” said Dr. Thometz. “I think it’s really Nick’ experiences with the whole team. He had surgery, so he was with me, but also with the nursing staff, and his experiences in the OR and his recovery there. I think these all made a favorable impression on Nick.”
And a lasting one. After getting his undergraduate degree at the University of Wisconsin-Eau Claire, Nick went to medical school at Rocky Vista University in Denver. Once he completes his residency, he will pursue a fellowship in pediatric sports medicine — hoping, eventually, to pay it forward by helping other kids overcome challenges and achieve their goals.
“The biggest thing I learned during my time is that there’s always going to be something for you, but you just need someone to encourage you to do it, or show you what you can do,” said Nick. “I learned for myself to not be afraid of those things.”
For current students who may be considering a future career in medicine, Dr. Thometz recommends taking advantage of volunteer opportunities at health care facilities and asking questions when you’re seeing your care providers — just like Nick and some of his other patients who went on to pursue careers in medicine.
“In many cases, it’s being a patient that gets you exposure to the medical field,” said Dr. Thometz. “Once they had the exposure, they were fascinated by what they saw, and wanted to pursue a career in the field.”
And, given his 38 years here, Dr. Thometz recommends a career at Children’s Wisconsin.
“I’ve been around long enough to see the evolution of Children’s Wisconsin, and it’s really pretty miraculous to see how it has grown and what we can offer to children now,” said Dr. Thometz. “There are so many great new developments in patient care, and that’s from the standpoint of the whole team, from the top down.”
Cutting-edge treatments are giving kids with spinal muscular atrophy hope.
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