Nashville father fights to raise awareness about rare disorder that targets legs

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NASHVILLE, Tenn. (WKRN) – Imagine losing the strength in the muscles of your legs and not knowing why. The condition is often misdiagnosed and worsens with time.

It’s a rare reality for about 20,000 people in the United States. It’s called Hereditary Spastic Paraplegia (HSP) and represents 90 different types of neurological disorders.

Jim Sheorn, of Nashville, spoke with News 2 about his own diagnosis. He first noticed symptoms of the condition in his 20s.

“When I was in my younger 20s, I noticed that I was walking slower than a lot of folks, I would trip upstairs and so forth. It was kind of scary because I was pretty active back then. I ran 5K races, not every weekend, but regularly I’d go out and get exercise,” said Sheorn.

Sheorn went to a few neurologists and eventually received genetic testing to identity HSP. He was diagnosed with the most common form which about 40% of patients suffer from called SPG 4. HSP is in the same family as Lou Gehrig’s disease or ALS.

Hassell is an Assistant Professor of Neurology at Vanderbilt University Medical Center. He said HSP can often be misdiagnosed.

“There are so many genes that are affected, so many different mutations, and we have now identified over 90, I believe. There’s a lot of different things that can happen. The uncomplicated forms can seem very diverse and get mistaken for a lot of different things. They can have a lot of different things happen from seizures to vision problems,” said Hassell.

There is no cure for HSP and symptoms can only currently be relieved.

“Uncomplicated forms have mostly lower extremity or leg symptoms, and that’s mainly characterized by progressive weakness and spasticity, which just means tight muscles and get tighter the faster you move them. That is how spasticity is unique to other different types of muscle tightness,” explained Hassell.

Some treatments may surprise you.

“I also get Botox injected into my legs every three months, and that helps out with the stiffness as well. I have to take medication for my bladder, I take oral medication four times a day,” explained Sheorn.

Hassell said Botox is a non-invasive technique for HSP. “It really gets at the problem which is tightness in the muscles. This provides an option for focal treatment to the areas that are most problematic without causing systemic side effects.”

Sheorn said it’s a progressive condition that worsens with time.

“It started off with just taking meds to help. Then, I went to a cane, then I went to a wheelchair, and then I used a scooter at one point. I have a walker too. It’s just trying to adapt and make the best of things. I try to stay active so I don’t lose any mobility. My sister actually has it as well. But, I was further along with the disease at her age than she is now. My father had it, and it was pretty bad,” said Sheorn.

Now, more than ever he wants to raise awareness about HSP. He volunteers with the Spastic Paraplegia Foundation. HSP could be affecting his own children at this very moment.

“My oldest is 18 and my youngest is 16. They had a 50/50 shot at getting HSP as well. We don’t know for sure, but it looks like they both have it as well. They have mild symptoms with their legs. I said ‘I want to get involved with the SPF foundation.’ I became more and more eager to help them.” said Sheorn.

Hassell told News 2 it’s an honor to help those with HSP.

“Being on the cutting edge of different therapies and treatments and seeing those things change, not only the quality of life in the patients that we treat but also their families and all the other lives that they’ve touched,” said Hassell.

Sheorn said there is a lot of research going on right now. This includes Northwestern where researchers have found a compound that has shown some promise in the lab. He said he’s excited about the research being done with it.

To learn more about the Spastic Paraplegia Foundation, click here for a list of resources.

To learn more about the neurology department at VUMC, click here.

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