The Imperative of Publishing Data on Rare Diseases like PANS-H63D-Multisystemic Instability Syndrome

With this letter, we express our most profound support for the groundbreaking study recently conducted by independent researchers describing the multisystemic “PANS-H63D instability syndrome”. This extremely rare systemic disorder is manifested by the coincidence of PANS Syndrome (also known as PANDAS) in adult patients, H63D syndrome, and insidious dysautonomias due to secondary mitochondriopathies caused by PANS and NTBI (the critical form of iron in H63D syndrome). The urgent need to disseminate this information is clear evidence of the widespread disregard for rare or "orphan" diseases in clinical medicine and medical science. There is no time for debates, all parts of this dangerous synergetic meta-syndrom are already well established and can be treated in many patients to some extent medication free of patents. Therefore, it would be highly unethical to withhold reliable case series just because only few unlucky individuals are suffering from an illness. It’s the hallmark if rare diseases that they are not widespread. “PANS-H63D instability syndrome” is the painful reality for suffering human beings. Therefore all evidence based knowledge must be released rather sooner than later.