Rare disease “not so rare”: better care claimed for Ehlers-Danlos syndrome

The Regroupement des Maladies Orphanes wants the establishment of specialized clinics for better management of Ehlers-Danlos syndrome, the number of Quebecers who suffer from it could be largely underestimated.

• Read also: Quebec unveils its policy on rare diseases

« There are several rare diseases that are neglected and forgotten, but this one is worse than worse, » says Gail Ouellette, president and scientific director of the Quebec Regrouping of Orphan Diseases (RQMO).

Since 2014, no fewer than 1,000 people have contacted the organization for help or a diagnosis of Ehlers-Danlos syndrome (EDS).

« It’s only increasing, worries Mme Ouellette. Imagine all those who suffer from it, but who have not contacted us. It is a disease considered to be rare, but which does not seem that rare.

excruciating pain

EDS is an inherited genetic disease causing, among other things, musculoskeletal problems and which can affect almost any organ in the body. It brings all kinds of pain.

“It is very difficult to have a diagnosis. We hear unacceptable and frightening stories about the journey of patients in the health network. There are doctors who do not believe that a person can have so many symptoms”, underlines the president, specifying that the knowledge of the medical community is limited on this orphan disease.

This is the case of Audrey Sasseville who had a diagnosis last April, after three years of medical wandering. « Since I was little I have had pain, but I thought it was normal, » recalls the 21-year-old.

Rare sickness

In August 2019, her symptoms worsened after a bicycle accident to the point where she fell while walking because she had pain and lacked strength in her legs. She also has stomach pains whenever she eats. She consulted countless doctors, who did not recognize the syndrome.

After numerous crises that led her to the emergency room, she was even admitted to the psychiatric unit. “I was told that my pain was psychosomatic, that it was in my head or anxiety. I wanted to die, because no one believed me, ”she says still in shock.

No treatment

Even after finally obtaining a private diagnosis for EDS and other related syndromes, Audrey Sasseville is not at the end of her troubles since there is no treatment.

“Rehabilitation can help me, but the waiting list stretches for years,” explains the CEGEP student who has put her life on hold. All I want is to go back to school, finish my studies and practice my profession.”

Rare sickness

His fight is that of thousands of Quebecers. The RQMO is therefore calling for specialized clinics for EDS, as there are in other Canadian provinces.

President Gail Ouellette cites as examples the clinics set up during the pandemic for those who suffer from long-term COVID.

“It takes better care, especially considering the number of people affected. It is a debilitating disease that has a very big impact. It completely prevents patients from having a normal life,” she insists.

To help Audrey Sasseville in her fight, click here.

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