Celine Dion's diagnosis brings awareness to stiff-person syndrome

Singer Celine Dion shared a heartbreaking diagnosis with the world Thursday. She has stiff-person syndrome (SPS), an extremely rare neurological disorder, and as a result, she canceled her European tour. 

"While we're still learning about this rare condition," Dion said, "we now know this is what's been causing all of the spasms that I have been having. Unfortunately, these spasms affect every aspect of my daily life, sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I'm used to."

For many people, this might've been the first time they've heard of SPS. Only one to two people out of one million are diagnosed. Dr. Stephen Aradi with USF Health's Department of Neurology said the disorder is characterized by progressive muscle stiffness that particularly affects the trunk and the upper legs. 

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For some, it can make them unsteady, slowing their walk or movements. For others, it can bring excruciating muscle spasms can be triggered by noise, touch, and emotional distress.

"The spasms can be so severe that they break bones and dislocate joints and result in life-threatening breathing problems," said Dr. Tara Zier, the founder of the Stiff Person Syndrome Research Foundation and a patient herself.

In 2014, she was a practicing dentist and a black belt in karate. Then, her former husband died, and she later got pneumonia.

"My neurologist said that emotional trauma can actually activate the immune system," Zier said.

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It spiraled into severe neck pain, rigid muscles, and feelings of panic.

"It's like if you're swimming in an ocean at dusk with sharks circling, that's like how my body felt," Zier said. "I couldn't sleep, I couldn't eat. I lost 30 pounds in a month."

After years of misdiagnoses, she founded the SPS Research Foundation to raise awareness and funding for treatment development. 

"If you said, ‘Tara, hey, go run down the street.’ I can do that," Zier said. "But if you ask me to go cook dinner, I'll turn white. Like if I hold myself up and just stand, my back, my muscles start to squeeze down like a vice. I can't continue. I turn white. I start to feel nauseous. I have to go lie down."

The cause of SPS still isn't clear, but Aradi said there is a well-recognized association between SPS and other autoimmune conditions. 

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Aradi follows a few local patients. While therapies and medication can lessen severity of SPS, even slowing progression, there is no cure.

"We've seen some promising results with certain immune modulating medications to reduce the frequency of attacks and the severity of symptoms," Aradi said.

The fact that so many are talking about SPS brings hope that someday, there'll be answers.

"Hearing Celine's message this morning, I mean, I just burst into tears," Zier said. "I think they finally feel some validation, like someone's listening."

The SPS Research Foundation is planning to launch an international patient registry next year. The goal is to get a large number of patients all in one place for researchers to study. The hope is to drive research forward and painting a clearer picture of how many people are impacted by SPS.