More and more genes responsible for rare diseases are being identified, which finally makes it possible to issue a diagnosis, but access to resources is still very difficult for many Quebec patients awaiting answers.
• Read also: Suffering from a rare disease: no recourse even if she risks losing her teeth
Myriam Lemaire, 47, was diagnosed with Ehlers-Danlos syndrome in December 2020, following wandering the healthcare system for decades.
“A diagnosis received 30 to 40 years too late, my doctor told me,” she says.
This hereditary disease results in abnormal joint flexibility, very elastic skin and weakened tissues.
Disabled, Mrs. Lemaire takes 25 to 30 tablets a day, in addition to an immunoglobulin treatment.
“It’s pretty amazing. Make us laugh at us and be told that we have nothing, she continues. Doctors need to address our disease quickly so patients can avoid disability.”
A reflex to sharpen
Between 2013 and 2018, 127 new genes were identified and 322 rare diseases were solved, according to Care4Rare, a Canadian research project led from the Children’s Hospital of Eastern Ontario (CHEO).
This news is encouraging, but difficult to see in our health system, observes Gail Ouellet, of the Quebec Regrouping of Orphan Diseases (RQMO). Many patients suffering and waiting for answers are struggling to be taken care of, she denounces.
“Family doctors don’t see that it’s a rare disease, and the main reason is that they haven’t been trained for it. They do the usual exams, and when it’s not conclusive, they stop there and say it’s psychosomatic,” says Ms. Ouellet.
The RQMO would like physicians to be made more aware of the possibility of finding themselves faced with a case of a rare disease, for the reflex to refer to a specialist to be better developed and for emergency physicians to have better access to the experts concerned.
For now, the fashion is rather to send the patient to psychiatry, which sometimes has disastrous consequences. “The subject of suicide comes up every day,” laments Ms. Ouellet.
One out of 20 Quebecers affected
There are 7000 to 8000 rare diseases in the world. In Quebec, it is estimated that nearly one person in 20 is affected or carrier.
In June, the CAQ government unveiled a new Quebec policy for rare diseaseswhich aims to optimize care and access to it.
The action plan must also be presented during the current year.
Specific measures concerning referral centres, a possible inventory and training of health network stakeholders will be announced.
He had to seek a psychiatric evaluation to prove that his symptoms are real
A Bécancour woman suffering from rare parasitic infections had to request a psychiatric evaluation, in order to prove that she was not suffering from a psychosomatic disorder and that her symptoms were very real.
Patricia Vigneault was recently diagnosed with chronic babesiosis and gnathostomosis, two parasitic infections that may have developed following contact with sick animals or food poisoning.
Before getting answers from the private sector, Ms. Vigneault wandered the health care system for several years trying to find explanations for her symptoms.
Doctors even mentioned that she suffered from a delusional disorder.
Its symptoms are very varied, such as gastric problems, rashes, edema, fever, general malaise and fatigue.
“When the doctor looks at you and tells you that you have nothing and that it’s in your head, it’s enough to go crazy,” she drops, pointing out that she has, on several occasions, thought regarding suicide.
Ms. Vigneault even requested a psychiatric evaluation – of which The newspaper got copy – which refutes the diagnosis of delusional disorder.
Private answers
So it was by spending thousands of dollars at Iliv, a private clinic in Bromont, that she finally got her answers. Some of his blood samples were sent directly to the United States to quickly confirm any of the infections.
The attending physician, Dr. Sophie Michaud, also suspects chronic bartonellosis, cat-scratch disease, but this might not be confirmed since serologies are not available in Quebec.
Dr. Michaud will be retiring shortly. Ms. Vigneault, who cannot afford to be treated privately, says she is totally helpless.
She is currently being treated with several medications, including an antimicrobial that provides partial relief.
But she is still waiting for a treatment not available in Canada – albendazole – which she can obtain through her doctor, through Health Canada’s Special Access program. It is an antiparasitic once morest gnathostomosis.
“I have to find a medical specialist urgently,” she despairs.