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Column: Céline Dion puts spotlight on stiff person syndrome

San Diego Union Tribune logo San Diego Union Tribune 1/14/2023 Diane Bell

When Céline Dion made an emotional video post revealing her battle with a rare neurological disorder called stiff person syndrome, many fans had never heard of the disorder.

Jenina Peraza was not one of them.

She started that same medical discovery journey in 2020.

Peraza, 43, grew up in Point Loma and now lives in Los Angeles. She began suffering from seemingly random muscle spasms and stiffness three years ago. Her leg muscles became rigid and locked up, causing anxiety and fear of falling. Her lower back ached, and she thought maybe she had strained herself in her Pilates class.

After a month of physical therapy yielded no improvement, her therapist advised her to see a neurologist. "My major symptom was stiffness, triggered by sounds that startled me or emotional stress."

Bright lights and even anxiety over someone watching her walk also could bring on an episode.

She described her symptoms to one doctor after another. No one could pinpoint the cause. Her malady was a mystery disease. She was advised to take muscle relaxants, which helped with the pain, but stress and anxiety over her health worsened.

Peraza launched her own investigation. She combed through medical journals. Finally, she came across an article about a woman, close to her age, who had similar symptoms.

It had taken about seven years for the woman to get a diagnosis: stiff person syndrome (SPS). The condition also is known as human statue disease, tin man disease, invisible disease and, most recently, the Céline Dion disease.

Dion, 54, posted her emotion-charged video online Dec. 8, but she had been dealing with health problems for a long time not knowing what disease she was fighting until the SPS diagnosis was made.

"Unfortunately, the spasms affect every aspect of my daily life," she announced, "sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I'm used to."

She postponed this spring's European tour.

Dion first publicly had mentioned her symptoms in the fall of 2021 when she delayed a Las Vegas opening, citing muscle spasms.

"I can 100 percent see why," says Peraza. The large crowds, the lights and walking out on stage could be enough stimulus to trigger spasms.

"The day Céline Dion made the announcement, my phone rang off the hook," says Mike West, of Flagler Beach, Fla., who co-founded the Stiff Person Syndrome Association in 2007. It has grown to about 1,700 members.

If anything positive can come out of the singer's health struggle it's that her ordeal may shine a spotlight on a little known and little understood disorder. Perhaps researchers and pharmaceutical companies now will focus more attention on this baffling, incurable syndrome.

"Now maybe there will be funding and research for this disease because it is so rare and so unknown," says Peraza's mom, Stacey Foxworth. She and her husband, actor Robert Foxworth, Peraza's stepdad, had asked their respective doctors about it.

"My allergist never heard of it. My orthopedic surgeon never heard of it. Nobody's heard of it," Stacey says.

SPS is said to affect one of every 1 million people, but neurologist Scott Newsome, who heads the Johns Hopkins Stiff Persons Syndrome Center, says it could be twice that prevalent.

People simply don't get diagnosed because many physicians are unfamiliar with the disease. Complaints of muscle spasms and stiff legs can be attributable to many causes, and diagnosis is difficult. Plus, SPS symptoms often are mistaken for Parkinson's disease or multiple sclerosis.

After Peraza read about the syndrome, she implored her neurologist to include a GAD 65 test to look for Glutamic Acid Decarboxylase antibodies in her system.

Newsome reports that not everyone, but as many as 80 percent of those with the disease, produce these antibodies. Although the antibodies also are present in some people who don't have the disease.

When Peraza's multiple test results came back, she was informed there were no obvious abnormalities. She and her mother, who lives in Olivenhain, combed through the results of the 21-test panel.

When they got to the GAD 65 analysis, they discovered something the medical team had overlooked — Peraza's antibody count was 60 times higher than normal.

After additional testing, Peraza had a diagnosis, at last, and could move forward. The disease isn't curable, but it is treatable.

Diazepam (Valium) and other muscle relaxants are commonly prescribed for SPS. It's also treated with medications for seizures, anxiety and depression, immunotherapy infusions of filtered blood from healthy people and stem cell therapy. There also are physical therapies — massage, heat treatments, acupuncture, acupressure, yoga, meditation and aqua therapy.

Like Dion, Peraza took a break from her career — her sales and marketing job in Beverly Hills — to focus on her health. She started using a walker to guard against sudden falls.

Last September, she had a major scare. Driving by a road construction site at night with busy workers, flashing lights and honking horns, anxiety triggered a muscle lock up and her leg froze on the gas pedal.

Peraza was able to steer to the shoulder and activate her emergency brake, but she decided to stop driving at night.

Sufferers of this little known disease and their loved ones have formed support groups. Stacey joined the Facebook group run by Mike West, which puts her in touch with people from around the world to help answer her questions about her daughter's health.

West has lived with SPS for more than two decades. He says his spasms have tightened muscles so much they have torn and broken bones. On different occasions, contractions ripped his bicep causing a vein to rupture, immobilized his c2-c6 neck vertebrae, tore his meniscus and broke his ribs.

Spasms can affect the diaphragm and impact breathing. Plus, SPS medications can cause respiratory issues.

West doesn't leave his house, even to take out the garbage, without carrying letters from his neurologist and family physician describing his condition and treatment protocol, should he have an emergency onset of SPS.

Because the disease isn't visible, sufferers often are greeted with skepticism, even in the medical community. "As little as three months ago, a doctor told me he didn't believe the disease exists," West related during a phone interview.

"People in the group say that their families and friends have abandoned them. They say: 'But you LOOK fine. Why can't you do this or do that?' Family members need to understand it's real. It's not in our head," he says. "I'd be afraid to poll members on how many people have gotten divorced because of SPS."

It's sometimes difficult to persuade Medicare and other insurance companies to pay for expensive treatments, and pharmacies often balk at filling pain killer prescriptions because dosages exceed medically recommended amounts, he notes.

"In our group, when someone's having a bad day, we try to pick each other up" says West. "Yes, we discuss SPS and what works, but we also try to fill the void of lack of support from family. People can say, 'Hey, I'm having a crappy day,' 'I can't get out of bed,' 'I'm feeling down,' and someone in the group will reach out to that person. We're a village."

West is hopeful that Céline Dion's diagnosis will increase awareness of SPS, just as Michael J. Fox's Parkinson's diagnosis spotlighted that disease. "We hope she finds a treatment that works for her because SPS can rob you of so much of your life."

Stacey and Robert Foxworth are grateful word is getting out about SPS. "If the public can put pressure on the medical establishment," says Robert, "then that's what we need to aim for."

This story originally appeared in San Diego Union-Tribune.


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