Could it be Fabry? A response

Commentary by Professor Atul Mehta, formerly Director of the Lysosomal Diseases Centre, Royal Free Hospital and University College London

Thank you, Loretta, for a heart-wrenching tale of delay and despair with the heart-warming relief of a diagnosis and treatment at the end of the saga. Unfortunately, this is an all too familiar story – and one that we heard (and I’m sure still hear) frequently at the Royal Free. And it’s not just the heart. We heard stories of unsuspected Fabry causing repeated strokes, destroying kidney function to the extent of dialysis and even failed transplant, excruciating pain destroying social and family life, deafness affecting work capacity and gut-wrenching (literally!) stories of disabling irritable bowel syndrome, all down to undiagnosed Fabry.

How can we prevent this? Of course, raising awareness ultimately means more enlightened doctors such as the Dr Venetucci you mention; but the dismissive ones, such as the cardiologist who ignored the murmur in pregnancy as merely the normal flow of an increased blood volume seen in every pregnant woman. The dismissive, aloof, know-it-all arrogance of some doctors is a bigger challenge, as these are difficult folk to engage constructively. My colleagues and I have written journal articles, lectured at conferences and webinars, devised diagnostic algorithms, written guidelines and initiated screening studies. We’ve provided cards in clinics encouraging dried blood spots to be sent to specialised testing centres and piloted studies of biomarkers that can be used to suggest the need for testing for rare diseases. And there are suggestions of a positive impact of these measures.

There have been many fabulous instances of imaginative and original ways of raising awareness.