The medical experience of a patient with a rare disease and her family

Roberta Garau. Orphanet Journal of Rare Diseases201611:19. DOI: 10.1186/s13023-016-0401-7

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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 medical experience of a patient with a rare disease and her family