Céline Dion has a tough road ahead, but her diagnosis brings hope to others

When Dr. Tara Zier learned Céline Dion had been diagnosed with Stiff Person Syndrome, a rare and incurable neurological and immune disease that causes debilitating muscle spasms, hyper-rigidity and a host of other health problems, she burst into tears.

“I had heard she was struggling to find a diagnosis,” said Pier, who suffers from SPS herself and is the founder and CEO of the Maryland-based Stiff Persons Syndrome Research Foundation. “But I hoped it would not be SPS. We actually reached out to her on Instagram one month ago to offer resources, because her symptoms sounded all too familiar.”

While Zier felt shock at the news and deep empathy for Dion, she and other SPS sufferers say they have been inspired by Dion’s courage for speaking out and by her optimism. They hope she can bring more awareness to a syndrome that is often misdiagnosed, under-researched and difficult to treat.

“Part of the reason the average time to diagnosis is an agonizing seven years is that Stiff Person Syndrome has a ridiculous name. But it is a debilitating disease. People aren’t just stiff. It impacts vocal cords, breathing, walking, going out in public. It’s impacting Céline’s life and every patient who suffers from SPS can relate to that.”

“It’s a devastating disease,” which affects an estimated one in a million people, says Dr. Scott Newsome, an expert in SPS who established the Stiff Person Syndrome Center at Johns Hopkins Medicine in Baltimore.

There may be more SPS sufferers, Newsome says in a video on the Johns Hopkins Medicine website. “The one in a million speaks to the classic Stiff Persons Syndrome, initially described in the 1950s, where someone will present to a clinic with their axial muscles and torso quite rigid. They may have some tightness in their legs, which causes them some gait problems and balance problems. They can get horrific spasms in any muscle within the body, but the focus with classic Stiff Person Syndrome is really in the axial, lower back, abdominal muscles and legs.

“It’s quite painful. People will go around with these chronic pain syndromes going from one doctor to another trying to figure out what’s causing these really bad spasms and pain. … Sometimes they get labelled crazy because on exam early on there aren’t the hallmark features of Stiff Person Syndrome.”

In its early stages, the disease can mimic a lot of other conditions, he said, so it takes about seven years from the onset of symptoms, on average, for people to get a diagnosis of SPS. Among the biggest risks with this disease is falling, because of the frequent spasms and the postural instability SPS sufferers develop.

“Just walking down the the street they could have a spasm and fall and they’re not able to guard themselves because of that postural instability”, Newsome said, adding they also lose reflexes because of the condition.

SPS usually develops in mid-life and women are much more commonly affected than men.

Up to 80 per cent of SPS patients have anti-glutamic acid decarboxylase (GAD) autoantibodies in their blood, which affects the nervous system. Newsome said T-cells may also play a role, but more research is needed on how. His centre collects blood and spinal fluid samples from patients with SPS, in hopes of better defining the involvement of the immune system.

Lea Jabre, 35, was diagnosed with SPS in May 2021, after about five years of worsening symptoms. She spoke to the Montreal Gazette Friday about what it is like to live with the disease.

Jabre was working in Beirut as the director of a non-profit organization for children with special needs when she started experiencing digestive system issues. Next, she developed tachycardia and fainting, then gastroparesis, which affects proper functioning of stomach muscles, pelvic floor dysfunction, type 1 diabetes, and postural orthostatic tachycardia syndrome (POTS), a condition that causes fast heart rate, dizziness and fatigue when you transition from lying down to standing up, all of which are associated with SPS.

After contracting COVID-19, her symptoms intensified. She developed stiffness in her hip, leg and calf and had difficulty turning in bed. Jabre caught COVID three times and, each time, her SPS symptoms increased dramatically. Vaccinations also caused intensification of symptoms.

She consulted many doctors and specialists, some of whom called her “crazy,” she said, until she finally got a diagnosis of SPS from a neurologist.

“When she told me, I looked at her and I cried and said: ‘Thank you for giving me a diagnosis.’ Little did I know … how horrible a diagnosis this was going to be but, at the time, I felt so much relief because for the first time I felt acknowledged by someone, (instead of being told) I was completely crazy and making up everything.”

Jabre travels regularly from Gambia, West Africa, (where she moved because of her husband’s job) to Baltimore and Beirut for treatment. She is receiving treatment from Newsome at the Johns Hopkins SPS Center, including IVIG (intravenous immunoglobin), immunosuppressant therapy and plasmapheresis (cleansing of the blood plasma). Since each SPS patient responds differently to treatments, Newsome has told her it could take two years to find a treatment that works for her. She gets Botox injections in her legs and back, does physiotherapy, osteopathy and aquatherapy. But for now, her condition is not well-controlled.

“I am in pain constantly, I spasm constantly … but what hurts is the stiffness. Right now, for example, I have a very stiff back and I have taken meds to do this interview with you,” she said.

Jabre can’t walk without a cane and, on bad days, she can’t walk at all. Her husband has to help her with showering and getting in and out of bed. She is extremely noise and light sensitive and is easily startled, all part of the disease. She has put off plans to have a baby until she finds a treatment that improves her quality of life.

Jabre is now a board member and patient advocate with the SPSRF. She has posted videos of herself having painful muscle spasms on her Instagram account (bent_not_broken_autoimmune) to draw attention to the syndrome, and is glad to see that account gaining followers since Dion announced her diagnosis.

Jabre and Zier both say they hope public attention to Dion’s SPS diagnosis will result in more research, and even, some day, a cure.

“Because of who Céline Dion is, people will take her seriously,” Zier said. “No one will think she’s crazy. She’s articulate, well-spoken, respected globally, intelligent and credible. This disease takes, on average, seven years to diagnose, partly because patients get dismissed as being psychologically unwell. Céline’s SPS diagnosis is going to wake people up. … She is already using her beautiful voice to shine a bright light on an often-misdiagnosed, but devastating disease.”

mlalonde@postmedia.com

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