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Master Thesis

Quelle place pour le médecin généraliste dans la prise en charge des maladies rares ? Analyse des attentes de patients atteints de maladies lysosomales

Abstract : INTRODUCTION. Patients with lysosomal storage disorders are few and far between our daily general practice. However, they need multidisciplinary care, and the general practitioner (GP) needs to be involved. What is the GP's role in this complex situation? We interviewed patients to learn about their expectations for the general practitionner, in order to propose solutions, to define this role as well as possible, and to find useful tools that may help the GP handle these cases. METHOD. A qualitative study was conducted from May to November 2013. It was based on a survey that was handed out directly or sent by mail or email, to patients with lysosomal storage disorder, or their parents if needed. This survey asked about their expectations towards their GP. RESULTS. With a 50% response rate, our survey showed that the GP has a part to play in the treatment of rare diseases. More than half the interviewed patients (58%), wanted their GP to be more involved. They expected them to coordinate the various aspects of the treatment, they looked to their GP for guidance and expected them to listen to their concerns, know about the disease and about its consequences on their daily lives. DISCUSSION. Even if rare diseases are complex, the GP has a role in the care of theses patients who expect a better collaboration. Some tools already exist, but there is still too little communication about them. Awareness to the problem of rare diseases should also be increased among the medical community. Finally, simple and personnalized tools should be created for the GP to better coordinate with expert centers.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01119991
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  • HAL Id : dumas-01119991, version 1

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Marie-Anne Sévêque. Quelle place pour le médecin généraliste dans la prise en charge des maladies rares ? Analyse des attentes de patients atteints de maladies lysosomales. Médecine humaine et pathologie. 2014. ⟨dumas-01119991⟩

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