Patient pathway for patients with a rare genetic disease

The infographic depicts the healthcare pathway for patients with rare genetic diseases facing diagnostic uncertainty. The pathway follows a timeline illustrating the various steps of the medical process.

The journey begins with the onset of the patient’s first symptoms. Next, the patient has a consultation with a general practitioner or pediatrician. If necessary, biological analyses and additional tests are ordered.

If the diagnosis remains uncertain, the patient is referred to specialists for further consultations. This phase of searching for a clear identification of the cause of the symptoms is called diagnostic odyssey and is accompanied by prolonged investigations.

The patient may then be referred to a rare disease specialist center, where genetic tests are conducted to further refine the possible diagnoses. The last step in the process is reaching a precise diagnosis, which then paves the way for appropriate care.

Alongside the medical process, the infographic highlights support and paramedical care measures. Such options include multidisciplinary care management, social support, and resources or services related to education, associations, and employment.