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.

However, there are some inescapable obstacles; and society needs your help with many of these. How far can we take newborn screening and family pedigree analysis for genetic diseases? And how do we approach those conditions in which a genetic mutation is a necessary prerequisite but is not by itself sufficient so that the full disease picture is only seen in those with some other (genetic or environmental) trigger? What types of tests – if any – are permissible without explicit consent? What are the boundaries of respectable research – and where does it become a danger to personal freedom? What is the point of diagnosing a condition where there is no treatment – or where the treatments are severely rationed? If a particular behaviour triggers the expression of a genetic predisposition into a full-blown disease – how far should such behaviour be sanctioned? Or to put it more bluntly – whose fault is it anyway, and what is the basis for guilt?


Thank you for sharing your story, Loretta. Anyone who can help us engage the media with these stories will be helping reduce the delay. There have been many fabulous instances of imaginative and original ways of raising awareness – for example, having a rare disease as part of the storyline in a soap opera.


Finally, one of the few (perhaps the only) positives in the terrible tragedy of Covid is the increase in public knowledge and awareness of science and medicine. We can look forward to the day when DNA, PCR, asymptomatic carriers and mass screening are the stuff of conversations in pubs, queues and buses across the land!


Information contained in these articles has been collected and written by our guest blogger and does not necessarily reflect the opinions of the MPS Society or its Board of Trustees.