학술논문
The medical experience of a patient with a rare disease and her family
Document Type
Letter to the editor
Author
Source
Orphanet Journal of Rare Diseases. March 1, 2016, Vol. 11 Issue 19
Subject
Language
English
ISSN
1750-1172
Abstract
Author(s): Roberta Garau[sup.1] Correspondence 'Unfortunately it is cancer. It is called undifferentiated pleomorphic uterine sarcoma, but the doctors are not sure, it could be a leiomyosarcoma. They have never seen [...]
This letter considers the main challenges that people with rare diseases and their families face: delay in diagnosis, lack of appropriate support and information, and impaired access to treatment. The differences in medical experience between a patient with a rare disease and one with a common one are made through the use of a real-life example: the diagnosis of leiomyosarcoma received by my mother. I highlight how patients with rare disease are often misdiagnoses and how their symptoms are often overlooked. I also highlight the isolation patients with rare diseases and their families experience due to the lack of knowledge about their condition, the struggle to access treatment and the small amount of information and evidence based medicine for managing rare conditions. This article was the winning entry in the Findacure essay contest 'The Student Voice'. More information about Findacure can be found at http://www.findacure.org.uk. Keywords: Patient experience, rare cancer
This letter considers the main challenges that people with rare diseases and their families face: delay in diagnosis, lack of appropriate support and information, and impaired access to treatment. The differences in medical experience between a patient with a rare disease and one with a common one are made through the use of a real-life example: the diagnosis of leiomyosarcoma received by my mother. I highlight how patients with rare disease are often misdiagnoses and how their symptoms are often overlooked. I also highlight the isolation patients with rare diseases and their families experience due to the lack of knowledge about their condition, the struggle to access treatment and the small amount of information and evidence based medicine for managing rare conditions. This article was the winning entry in the Findacure essay contest 'The Student Voice'. More information about Findacure can be found at http://www.findacure.org.uk. Keywords: Patient experience, rare cancer