H63D Syndrome killed Michael almost silently

This text tells the tragic true story of Michael, who has suffered since his youth from a multitude of severe and progressive neurological and physical symptoms that were misinterpreted and psychologized by doctors for decades. Only after thirty years is a homozygous mutation of the HFE gene H63D identified as the cause of his complaints, leading to what is called H63D syndrome. This rare syndrome, characterized by the accumulation of toxic non-transferrin-bound iron (NTBI), differs from classical hemochromatosis and is unknown to most physicians. The author criticizes the inertia of the medical system, the lack of interdisciplinary communication, and the disinterest in rare diseases that offer no financial incentives, emphasizing the necessity for patients and their families to become experts themselves.​​​​​​​​​​​​​​​​