Journey from Diagnosis to Treatment in Fabry Disease: Reaching & Sharing Diagnosis with Your Patient

Ғылым және технология

Obtaining a diagnosis for a rare disease can take an average of 4.8 years but taking more than a decade for some individuals is not uncommon.  Fabry disease may be particularly challenging to diagnose, the signs and symptoms of Fabry are often non-specific and can be shared with many other conditions, often leading to misdiagnosis.  Dr. Rob Hopkin, geneticist and Fabry expert, along with three people living with Fabry disease provide examples of HCP/Patient effective communication styles.

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