South London Genomic Medicine Centre
Space satellite engineer Michael Loweth, 38, had never been given a precise diagnosis to explain why he stopped growing when he was 4ft 2in. He is seeking the answer as part of the 100,000 Genomes Project.
Having a diagnosis didn’t cross my mind until I was asked for it on a job application form. My specialist, who I had seen once a year for nearly all my life, hadn’t encountered anyone like me or my brother before. He said what we have may be unique, but he put me in touch with Dr Melita Irving, Consultant Clinical Geneticist at Guy’s and St Thomas’, for a genetic diagnosis. After earlier consultations Dr Irving contacted me about the 100,000 Genomes Project. It seemed like a great chance, so I thought, ‘Why not?’. It will be a nice answer to have – like any other question – but one that will also be useful for the wider scientific understanding. As a scientist and an engineer, that’s important to me. The answers won’t change my life, but they might help other people in the future.