Dans les maladies rares, l’expertise est limitée, les connaissances restreintes, les parcours de soins incertains et les traitements inexistants ou peu efficaces. Pour améliorer les prises en charge, il est nécessaire de tirer parti de toutes les expertises disponibles, y compris celles des malades, certains d’entre eux étant devenus de véritables patients-experts.
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