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Patient describes harrowing stiff person syndrome, lack of resources in Canada

Robyn Cook ended up in the ER about 25 times before any suggested she may have the rare disease
Robyn Cook, shown in a handout photo, underwent an experimental stem cell transplant after struggling for years with stiff person syndrome, which she says requires more patient resources and funding in Canada. THE CANADIAN PRESS/HO

An “episode at work” is how Robyn Cook describes the sudden and life-changing full-body spasm that sent her to the emergency room, five years before a mysterious set of symptoms would be diagnosed as stiff person syndrome.

“I couldn’t open my mouth because my jaw was spasming,” she said of the frightening experience in 2012 that prevented her from calling for help from her desk at a bank.

“My left arm was stuck to me and my body was spasming from the neck, the shoulder, the torso, trunk, even into the hips,” Cook said from North Bay, Ont.

Cook, now 46, says signs of the neurological autoimmune disease began when she was 23. Her back stiffened with pain that took her to the floor and a similar debilitating incident eight years later forced her to stop working for five months.

“These episodes kept happening where it’s like, ‘Oh, my back went out. I’m stuck. I can’t move. I’m hitting the floor and crawling back to bed. But nobody could say anything was wrong with me.”

Cook ended up in the ER about 25 times, each time fearing she’d be perceived as a pill-seeker concocting her symptoms because the illness was little-known in Canada and had no advocacy group to support patients.

“It was the feeling of not being believed because you are the frequent flyer,” she said.

Symptoms worsened after the 2012 episode at work and Cook increasingly felt isolated. She worried about falling and began using a cane with a four-prong base at home in 2015. The following year she became dependent on a wheelchair whenever she left the house.

“When I was having my worst spasms I was in bed. They would usually come on when I was sleeping. It was kind of like ‘The Exorcist’ — the back-arching spasms that would levitate your back,” she said, referring to the 1973 horror film about a demonic possession.

Cook’s family doctor suspected fibromyalgia and referred her to a rheumatologist who quickly ruled out the condition, which causes bodily pain but without the rigidity and muscle spasms. He sent her to a physiatrist, a specialist in physical medicine and rehabilitation.

After a year of treatment that included intravenous ketamine and Botox injections to help manage muscle spasms, the physiatrist considered the possibility of a rare disease that involved her brain and immune system.

“He was actually the first one who said, ‘Ever heard of stiff person syndrome?’ I said, ‘No, that sounds ridiculous.’”

It wouldn’t be until 2022 that stiff person syndrome would gain global attention as the affliction that forced megastar Céline Dion to cancel concerts due to her own debilitating symptoms. Dion has said in a series of recent interviews that, like many patients, she spent years seeking a diagnosis and turned to painkillers to manage pain and spasms.

READ ALSO: Celine Dion opens up about illness, took near-fatal doses of Valium

As she became sicker, Cook said she was taking 120 mgs of daily Valium, painkillers and muscle relaxants, leaving her with only one option months after her diagnosis in 2017: a risky experimental treatment that involved collecting stem cells from her bone marrow, eliminating her immune system with chemotherapy and then transplanting those stem cells to regenerate her immune system. The best case scenario was that it would halt progression of the disease, which has no cure.

Cook said her stem cell transplant involved an extremely challenging recovery but has “given me my life back.”

She was the fifth patient to have the procedure at the Ottawa Hospital Research Institute since 2009.

Dr. Harold Atkins, the institute’s senior clinical investigator, said seven Canadians — five women and two men — have received the procedure, which he described as an “end of the line” option that can put the disease in remission.

“Some people are free of symptoms and medications and for others the disease has come back again, but not as severe and it’s easier to treat,” he said.

Atkins, a stem cell transplant physician, said he does not know of any neurologist in Canada who specializes in stiff person syndrome. The transplant procedure is reserved for “the very few people who have severe enough symptoms and no response to other treatments.”

“We’re very selective because there are significant risks associated with stem cell transplant,” said Atkins, also an associate professor at the University of Ottawa.

A similar procedure is sometimes used for cancer patients including those with lymphoma and myeloma, said Atkins.

His team’s efforts resulted in the first reported study of the stem cell transplant in two patients with stiff person syndrome, Atkins said. It was published in the medical journal JAMA Neurology in 2014.

The patients included a woman treated in 2009, five years after being diagnosed at age 48, and another who had it in 2011 following her diagnosis three years earlier at age 30.

The first person was fully mobile again six months later and the second resumed her previous activities without any symptoms a year later, the study says.

Atkins said he knows of at least nine transplant cases in the United States.

Dion has said Colorado neurologist Dr. Amanda Piquet diagnosed and treated her, and the singer’s foundation has donated $2 million over five years to UCHealth University of Colorado Hospital for research into autoimmune diseases including stiff person syndrome.

In a release issued last week by the University of Colorado Anschutz Medical Campus, Piquet said the cash will expand research to diagnose the disease earlier for those who “end up on this diagnostic odyssey.”

“There is a lot of anxiety and phobias that we can see with this disease. I’ve had some patients work with a trauma therapist,” Piquet said of a condition she estimates strikes two in 100,000 people, not one in a million as previously believed.

Dr. Marinos Dalakas, director of the neuromuscular division at Thomas Jefferson University in Philadelphia, said he has been studying stiff person syndrome for about 30 years and currently has nearly 100 patients, some from other countries, including Canada.

Stem cell transplants have produced mixed results but only a small number of studies with a few patients have been done in the United States, he said.

Dalakas said that since Dion revealed she has stiff person syndrome, some patients have become wrongly convinced that they too are afflicted, while others who were misdiagnosed are also emerging

Overall, increased awareness could mean more funding for clinical trials leading to better treatment, he said.

Nearly two years ago Cook returned to full-time work as branch manager of a credit union. She still has regular physiotherapy and chiropractic treatment and continues to take medications including Valium, which she has tapered to 10 mg daily.

However, Cook said she spent at least $100,000 on travel and hotels for appointments in various cities in Canada, including Ottawa where costs included rent and personal aides during 100 days of her recovery.

She still has mild spasms that “the average person would find painful,” though they do not disrupt her daily activities.

Cook sees several specialists including a neurologist, urologist, dermatologist, rheumatologist and psychiatrist for the trauma of the transplant. She also continues to have followup appointments with Atkins.

She hopes increased attention to stiff person syndrome will bring more support to patients, many of whom have relatively few options beyond managing their pain.

“The average person with stiff person syndrome is suffering because of a lack of resources.”

-Canadian Press health coverage receives support through a partnership with the Canadian Medical Association. CP is solely responsible for this content.

Camille Bains, The Canadian Press