Fabryfacts.com is intended for United States Healthcare Professionals Only. If you are person living with Fabry disease, visit the patient website at www.FabryConnect.com.

Fabry Disease Resources

Use these resources to further your knowledge of Fabry disease and help your patients gain a better understanding of Fabry disease.

Educational videos

Reaching and sharing a diagnosis with your patient

About this Video

Obtaining a diagnosis for a rare diseases can be long and arduous for patients.  According to Global Genes the average time to diagnosis is 4.8 years but time-frames up to a decade is not uncommon.  The signs and symptoms of Fabry disease are non-specific and may often lead to misdiagnosis.  Dr. Rob Hopkin, geneticist and Fabry expert, along with individuals living with Fabry disease provide examples of effective communication to persons newly diagnosed.

How Fabry Disease Develops

Learn How
Fabry Disease Develops

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About this Video

Fabry disease is caused by mutations in the galactosidase alpha gene (GLA). When functionality is affected, this results in improper protein folding or reduces the stability of alpha-Gal A, often leading to enzyme degradation in the endoplasmic reticulum prior to normal transport to the lysosome. Watch this video to learn how Fabry disease develops.