Clinical and Medical Case Reports

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy, Sapienza University of Rome, Italy

Publications

• Perspective   
  ?Finally? and ?Lack?: A Qualitative Examination of Facilitators and Obstacles in Rare Disease Medical Care
  Author(s): Antonelli Riva*
  
  Rare diseases, by definition, are conditions that affect a small percentage of the population. Yet, the cumulative impact of these conditions on individuals and healthcare systems is profound. Despite advancements in medicine, patients with rare diseases often encounter significant barriers in obtaining timely and effective care. Conversely, certain facilitators can help bridge these gaps and improve their healthcare experiences. This essay explores the dual themes of “Finally” and “Lack,” examining the facilitators that provide moments of breakthrough and hope, as well as the persistent obstacles that hinder progress in rare disease medical care. One of the most significant challenges in rare disease care is the diagnostic odyssey. For many patients, the journey to a diagnosis spans years, involving countless medical visits, tests, and misdiagnoses. In this co.. Read More»
  DOI: 10.37421/2684-4915.2024.8.340

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