As I told you at the door, I’m a virtual Fabry patient and explainer. The last few years, I have learnt a lot about Fabry disease, and gathered quite some information. In doing so, I have learnt that the consensus regarding Fabry disease was reached through a selective choice of available scientific literature. In my videos, I attempt to explain the data that was not included in that consensus. My videos can be found here: www.youtube.com/@FabryDiseaseExplained. General information about Fabry disease can be found on the following website: a143t.org.

Here I will by and by publish the scripts of these videos, including sources.
June 2026: Endoplasmic reticulum stress in Fabry, ME/CFS and long COVID
June 2026: The importance of AGALopathy in Fabry disease

Initially, my videos might difficult to understand. That’s why I made the following document, to offer a basic explanation of cell biology. The web version is formatted for reading at a screen. The print version can be printed (double sided, short edge) and folded into a booklet.
Fabrienne explains cell biology – web
Fabrienne explains cell biology – print

Something that worries me is that a number of genetic variants, including my own, are sometimes considered “not disease causing”. I know where that misunderstanding comes from, and I experience every day that it is, indeed, a misunderstanding. I don’t come to conclusions easily, but once I’m convinced, I’m convinced. After all, I’m a Scorpio. That’s why I put this poster in my study.