Patients with stiff person syndrome often have to walk a long and arduous path before they are able to receive a diagnosis.
• Also read: Celine Dion suffers from a rare neurological condition
• Also read: What is Stiff Person Syndrome, the disease Celine Dion suffers from?
“It’s such a rare disease that you really have to take a lot of steps. It took me visits to many doctors, including some in the United States, and four years to get a diagnosis. I’ve often been told it’s all in my head,” says a Quebec City resident who suffers from stiff person syndrome, also known as stiff person syndrome.
The latter, who asked for anonymity, has been living with the neurological disease that Celine Dion announced yesterday that afflicts her for twenty years.
“The first symptom came when someone made a joke and I had a cramp in my left leg,” says the 60-year-old, who initially feared she had amyotrophic lateral sclerosis, a condition that causes progressive muscle weakness.
“After that, whenever I laughed, was sad, or even experienced an emotion, or food-induced symptoms. I got stiff,” adds the ex-nurse, who had to end her career due to illness.
pain and trauma
Impossible for her to work when she could remain completely blocked from moment to moment by the stiffness of her muscles.
“I don’t even go to a restaurant since I got stuck in a chair. It causes trauma,” says the one, who has trouble articulating as the disease also affects her maxillofacial muscles.
The same is true for a 65-year-old Quebecer who has been living with the disease for fifteen years and suffers from spasms “all over his body.”
“My first thought in the morning was: One more day to suffer,” says the man, who asked not to be named. I had cramps all over my body, under my mouth, on my neck, near my navel, around my heart…”
Today he manages to bring his illness, which was also diagnosed after several years, under control only thanks to magnesium bisglycinate tablets.
obstacle course
For the Quebec City resident, Celine Dion’s announcement could finally put illness on the map.
“It might advance research and at least make the healthcare system aware of the disease, because right now it’s not good for rare diseases,” she laments, adding with a laugh that the famous Quebec singer may have had fewer problems getting diagnosed when she was given her status.
Many health professionals also acknowledge this problem.
“It’s an obstacle course. By the time they manage to consult us, they have often seen half a dozen doctors,” says Dr. Stéphan Botez, neurologist at the University of Montreal Hospital Center (CHUM).
For her part, Gail Ouellette, president of the Quebec Regrouping of Orphan Diseases, believes the disease is underdiagnosed.
“There is a lack of knowledge and resources,” notes Gail Ouellette, President of the Quebec Regrouping of Orphan Diseases. It’s common to go years without a diagnosis.
Despite everything, the ex-nurse remains hopeful and continues to see the glass as half full.
“I’m sure that one day I’ll be able to walk or ride my bike again like I used to,” she says.
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