Patients with stiff person syndrome very often have to go through a long and arduous journey before they are able to obtain a diagnosis.
• Read also: Celine Dion suffers from a rare neurological disorder
• Read also: 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 visits to many doctors, including some in the US, and four years for me to get a diagnosis. I’ve often been told it’s all in my head,” says a Quebec City resident who has stiff person syndrome, also known as stiff person syndrome.
The latter, who requested anonymity, has been living with the neurological disease Celine Dion yesterday announced she is suffering from 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 disease that causes progressive muscle weakness.
“Later, as soon as I laughed, was sad or even just feeling an emotion or eating caused symptoms. I was stiffening up», adds the former nurse who had to end her career due to illness.
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Pain and trauma
Impossible for her to work when she could be completely frozen by the stiffness of her muscles at any moment.
“I don’t even go to restaurants anymore since I got stuck in a chair. It causes trauma,” says the one who has difficulty articulating as the disease also affects her maxillofacial muscles.
The same story for a 65-year-old from Quebec who has been living with the disease for fifteen years with cramps that made him suffer “all over his body”.
“My first thought in the morning was: another day to suffer, says the man who doesn’t want to be identified. I had cramps all over my body, under my mouth, in my neck, near my navel, around my heart…”
Today he manages to keep his disease under control, also diagnosed after several years, only thanks to magnesium bisglycinate tablets.
For the Quebec City resident, Celine Dion’s announcement could finally put the disease on the map.
“Maybe it will advance research and at least make the health care 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 less trouble getting diagnosed given her state.
Even many healthcare professionals recognize this problem.
“It’s an obstacle course. Until they can consult us, they have often seen half a dozen doctors,” admits Dr. Stéphan Botez, a neurologist at the University of Montreal Hospital Center (CHUM).
For her part, Gail Ouellette, president of the Quebec Regrouping of Orphan Diseases, is convinced that the disease is underdiagnosed.
“Knowledge and resources are lacking, notes Gail Ouellette, president of the Quebec Regrouping of Orphan Diseases. It is common to go years without having a diagnosis.
Despite everything, the former nurse remains hopeful and continues to see the glass as half full.
“I’m sure that one day I will be able to run or cycle again as before,” she says.