Living with Spinal Muscular Atrophy: JR Trout’s Story

Ever since he was a young boy, JR Trout, who lives with spinal muscular atrophy (SMA), had a sense that there was something different about him. For years, he never ran properly and was often fatigued, but his differences were attributed vaguely to bad knees or “genetics” and he was completely unaware that there was an underlying disorder at work.

“I was a very active kid and I lived in a very active neighborhood. I was never the fastest kid, but still I played a lot of sports. “

Going off to college, JR continued to remain active in sports and in the gym. However, he began to notice the weakening in his legs. It is likely that without his active lifestyle that he would have declined more rapidly.

“Eventually there were certain things I couldn’t do anymore, like squat my own body weight. I started having to migrate towards the railing while using steps to keep my balance.”

JR would eventually get diagnosed with spinal muscular atrophy type 3 in his early 30s after breaking his knee and undergoing a dizzying array of tests, including genome sequencing.

Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in its most severe form. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are four different types of spinal muscular atrophy that are categorized by the severity of symptoms and when they first appear. While all individuals with spinal muscular atrophy experience a decline in motor function, the rate of that decline can be unpredictable and varies based on the disease type. Children born with the most severe type (type 1) have difficulty performing basic functions of life, like breathing and swallowing, while those with later-onset spinal muscular atrophy like JR may have milder symptoms but lose muscle strength or function over time. To learn more about spinal muscular atrophy, click here.

In 2019, JR started receiving treatment with nusinersen (marketed as Spinraza), which is the only available treatment approved for patients of all ages. By then JR had seen more declines in his strength and was no longer able to run. But due to the day-to-day physicality of his career as a bridge inspector, he wanted to remain as active as possible.

“It was explained to me that the drug would help me to plateau and I wouldn’t have to be so worried about losing my abilities. At this point I wouldn’t say that I am gaining a lot of muscle, but I’m not losing it either. I think diet and exercise has also helped improve my results.”

JR has received a lot of support from his wife Rebecca, brother Luke, and sister-in-law Caroline, as well as his mother Renee. In fact, his wife was the first person that he really talked to about the declines that he experienced in the past. She encouraged him to see a physician when his symptoms progressed, which ultimately led to his diagnosis.

“My wife is a very patient and empathetic person. She’s strong and I have to rely on her for a lot of things. I don’t think I could have asked for a better person to be there for me.”

Since his diagnosis, he has also gotten involved in an SMA support group that tries to meet up in person every few months, at least under non-pandemic circumstances. JR says that he is thankful for the support that he receives from others and that his disorder can be effectively managed.

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