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.
About this Webinar
Dr. Eric Wallace, Medical Director of Telehealth and Associate Professor at the University of Alabama at Birmingham, shares his expertise in treating rare disease patients utilizing telehealth platforms. Dr. Wallace discusses the infrastructure development and implementation of telemedicine, and the potential to evolve the care model for Fabry patients.
This information is particularly relevant, considering the high utilization of telemedicine during the COVID-19 pandemic, and the expected post-COVID demand. This presentation was recorded live and is followed by a 30-minute question and answer session.
Download the slides for an overview of the presentation
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.
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.
Facts