with files from The Canadian Press
When Canadian superstar Céline Dion went public on Instagram that she has been diagnosed with stiff person syndrome there was such a mixture of emotions for Amanda Robinson.
The 47-year-old life-long resident of Barrie was diagnosed with the syndrome in 2021.
Robinson says you don't wish this syndrome on anyone, but there was a floodgate feeling upon learning that Dion was among those with this rare condition.
We Spoke With Amanda Robinson About Stiff Person Syndrome On What Barrie's Talking About
"It was like - people are going to hear about this - everybody is going to hear about this," Robinson says, reflecting on Dion's worldwide fame.
For Robinson, there were symptoms prior to her diagnosis, which she says were mild up until "the big event" in 2019 that got the ball rolling.
"A few years ago I had a bit of traumatic sort of experience walking into work, as my legs kind of locked up, and I couldn't move them to save myself," Robinson explains. "Thankfully, there were some people in the parking lot of my work that helped me up and got me to the doors, so I could go to the hospital to find out what was going on."
The condition is a “neurological disorder with features of an autoimmune disease,” according to the National Institute of Neurological Disorders and Stroke in the U.S.
About one or two people in a million are affected, according to the Stiff Person Syndrome Center at Johns Hopkins Medicine.
The diagnosis for Robinson came fairly quickly as her family doctor had experience with a similar case.
She was eventually sent to a neuromuscular clinic in Hamilton where she was clinically diagnosed just from the symptoms the doctor saw. There was also extensive blood work, as this illness is not easy to pin down.
The number of cases involving the rare disease could be higher because people are so often misdiagnosed, said Dr. Marinos Dalakas, director of the neuromuscular division at the Thomas Jefferson School of Medicine in Philadelphia, who is also a member of the medical advisory board for The Stiff Person Syndrome Research Foundation.
Common misdiagnoses include Parkinson’s disease, multiple sclerosis and psychiatric disorders, he said.
Robinson had to give up her job as a customer service rep and give up driving.
Muscle rigidity and spasms are the two main defining symptoms of stiff person syndrome, which can be very painful. The spasms can cause people to fall and put them at risk of injury. If the thoracic muscles are affected, people can have difficulty breathing, said Dalakas, noting that spasms can also cause people’s voices to tremble.
If the muscle stiffness is severe, “you can become like a statue,” he said.
Robinson says any sort of anxiety or startle can trigger her legs to lock up, even the barking of her dog.
"If you are in a high intense traffic situation, you never know when your legs are going to lock up, so I don't go out by myself simply because I need assistance walking and pretty much doing anything."
One of her escapes is weekly darts at the legion, and she says the people there are patient with her when she plays.
As for a long-term prognosis, Robinson says it is not a step-by-step progression.
"There is no cure, so it's incurable," she says. "However, you can go into a kind of remission. Mine is mostly centralized in my legs."
From that standpoint, she considers herself lucky because in her communication with people in online support groups with the syndrome, there are those who have it in their torso, or it's hard to breathe, and still others have an impact in their necks where it's hard to eat.
Robinson refers to Dion who mentioned muscle spasms that impact her vocal cords.
There are treatments that can help alleviate the symptoms.
Medications need to be tailored to each patient, depending on their symptoms, Dalakas said.
Commonly prescribed treatments for stiff person syndrome include diazepam, which can both help relieve muscle spasms and reduce severe anxiety, as well as muscle relaxants and anti-seizure medications like gabapentin.
Despite the syndrome and the everyday struggle, Robinson's voice is bright and cheerful. She is grateful for the network of support from family and friends, and the support groups that are out there.
"One thing that is difficult is finding and reaching the local resources for people who are suffering from rare illnesses, because we don't know where to look, and you try to navigate the internet, but it can be hit or miss, and most of the time it is misses."
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