A powerful team: the family physician advocating for patients with a rare disease

Aust Fam Physician. 2015 Sep;44(9):634-8.

Abstract

Background: Rare diseases are characteristically difficult to diagnose and for the majority, there are no effective treatments or evidence-based management guidelines. Although it is unrealistic to expect family physicians to recognise the wide clinical spectrum of rare diseases, their longitudinal and holistic approach to medicine place them in a unique position to consider the possibility of a rare disease.

Objective: This article outlines the challenges faced by the rare disease community, and the role of the primary care physician to advocate for answers as their patients transition through the healthcare system.

Discussion: The road to the diagnosis of a rare disease can test the doctor-patient relationship. Patients often struggle for answers and family physicians are stymied by a lack of information. At the same time, the availability of cyber-based health information and online rare-disease patient groups has led to the emergence of the 'expert' patient, who seeks a collaborative and empowering relationship with their physician. Following diagnosis, the family physician plays a crucial part in providing continuity of care, advocating access to expert healthcare, coordinating complex management and becoming a source of psychological support.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Continuity of Patient Care
  • Female
  • Humans
  • Physician's Role*
  • Physician-Patient Relations*
  • Physicians, Family*
  • Rare Diseases / diagnosis*
  • Rare Diseases / therapy*
  • Referral and Consultation