Female, 55 years old. Fabry disease – A143T diagnosed since 2018
At the time of my diagnosis, the A143T mutation was still classified as pathogenic, i.e. causing disease. Since my father had already passed away, only my mother could be tested. Which also seemed absolutely logical to me, that I must have inherited it from her. All of her ailments spoke for it, like migraines, stroke, high blood pressure, fibromyalgia, arthrosis in the joints….
When the negative test result was available, I initially had no doubts about the laboratory result. In the meantime, I know about false negative findings and I have strong doubts about the negative findings of my mother, who unfortunately has also passed away in the meantime. Regrettable, my relationship with my relatives is not good.
I often think about telling my family about it. But what do I have to offer: another false negative result and if not no prospect of therapy.