MONTREAL, March 21, 2017 /CNW Telbec/ - On the initiative of the Regroupement québécois des maladies orphelines (Quebec Coalition of Orphan Diseases), people affected by the Ehlers-Danlos syndrome assembled for a press conference to testify about the errors and difficulties they face with the medical management of their condition.
Ehlers-Danlos syndrome designates a group of hereditary diseases of the connective tissue characterised by joint hypermobility and tissue fragility which result in numerous symptoms, including repetitive dislocations, chronic pain and many other disorders of various systems and organs (gastrointestinal, gynecological, vascular, neurological, urological, etc.).
Even if the Ehlers-Danlos syndrome has been known for more than 100 years, still today, few doctors know how to recognize it. Patients (often several members of a same family) meander in the health system, going from one specialist to another, without obtaining a diagnosis or with a wrong diagnosis. And, in the case of women, who are more severely affected, they are told to go consult a psychiatrist. Because it is under-diagnosed or wrongly diagnosed, this syndrome may not even be rare and could affect thousands of Quebecers.
Last week, an international consortium of experts unveiled new guidelines that will facilitate the diagnosis and management of this disease. Furthermore, the Ontario government just announced a major investment to establish a specialized clinic for patients with Ehlers-Danlos syndrome as exists in other countries.
The RQMO proposes two measures to end the diagnostic odyssey of those affected by this syndrome and to ensure that they get better medical management:
- the establishment of a specialised multidisciplinary clinic for Ehlers-Danlos syndrome;
- the adoption of a Quebec Strategy for Rare Diseases to help improve the diagnosis, management, treatment, prevention, research and psychosocial support for rare and orphan diseases.
For information on the Regroupement québécois des maladies orphelines : www.rqmo.org
SOURCE Regroupement québécois des maladies orphelines (RQMO)
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