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As I told you at the door, I’m a virtual Fabry patient and explainer. Now, what is Fabry disease? Fabry is a metabolic genetic disease. The effects are extremely varied and understanding the causes requires some understanding of cell biology. These two sentences should be enough to show that it’s not easy to quickly explain Fabry disease. Here’s a short list of typical symptoms:

  • Vascular cutaneous lesions (angiokeratomas)
  • Periodic crises of severe pain in the extremities (acroparesthesia)
  • Sweating abnormalities (hypohidrosis, anhidrosis, or rarely hyperhidrosis)
  • Cornea verticillata (characteristic corneal opacity) and lenticular opacities
  • Unexplained left ventricular hypertrophy or cardiac arrhythmia
  • Unexplained stroke
  • Abdominal pain, nausea, and/or diarrhea of unknown etiology in young adulthood consistent with irritable bowel syndrome
  • Renal insufficiency of unknown etiology including unexplained proteinuria or microalbuminuria

(Source: Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2023 Mar 9]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.)

There are many words in that list I had to look up myself. Over time, I gathered a lot of knowledge. What I know I put in videos, hoping that patients will find them an accessible way of learning about Fabry disease. It turns out that there are different processes in my cells that don’t work as they should.

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 found a lot of helpful information on the following website:

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.

Now, let’s wrap this up by telling you where you can find my videos, and with them (hopefully) everything else you have to know: