The First Consultation
First Consultation (PowerPoint Presentation in French available for download)
To avoid diagnostic Odissey, the patient must prepare for their first consultation to establish a constructive dialogue with the doctor.
The purpose of the downloadable presentation is to provide advice and explanations for this first consultation.
Diagnostic wandering or diagnostic Odissey refers to the prolonged and often distressing period during which a person with a rare disease seeks an accurate diagnosis. This process can take months, years, or even decades. This phenomenon is particularly common among patients with rare diseases, as these conditions are not well-known, poorly documented, and sometimes misunderstood, even by healthcare professionals. Below are the main reasons and consequences of diagnostic wandering:
Reasons for Diagnostic Odissey
Rare diseases affect a very small percentage of the population (in Europe, a disease is considered rare if it affects fewer than one in 2,000 people).
General practitioners and even specialists have often never encountered these diseases during their careers.
Many rare diseases present with common symptoms (fatigue, chronic pain, digestive disorders, dizziness, etc.), which resemble those of more common conditions, making diagnosis difficult.
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Lack of Training Among Healthcare Professionals
Most healthcare professionals have not been trained to recognize rare diseases, which can lead them to underestimate certain symptoms or make incorrect diagnoses.
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Fragmented Healthcare Path
Patients are often referred to numerous specialists (neurologists, rheumatologists, ENT specialists, gastroenterologists, psychiatrists, etc.), but these specialists do not always communicate effectively with each other.
Each consultation sometimes focuses on a particular organ or system without a comprehensive overview.
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Limited Access to Advanced Diagnostic Tests
Some necessary tests or genetic analyses required to confirm a diagnosis are not always accessible due to financial, geographical, or administrative reasons.
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Lack of Consensus on Certain Diagnoses
For some rare diseases, there are no universally recognized diagnostic criteria, further complicating identification.
Consequences of Diagnostic Odissey
Delayed implementation of appropriate treatment, which may worsen symptoms or complications.
Incorrect treatments administered, potentially causing unnecessary side effects.
Feelings of frustration, discouragement, or despair for the patient and their loved ones.
Loss of trust in healthcare professionals.
Social isolation due to a lack of understanding from relatives and society.
High costs associated with multiple medical consultations, tests, and sometimes inappropriate treatments.
Professional repercussions, including frequent sick leaves or job loss.
Early intervention is often crucial to slowing the progression of many rare diseases. Diagnostic wandering delays this intervention.