I was first diagnosed in 1983, by Professor John Hopwood’s facilities at the Adelaide Children’s Hospital. My particular genetic mutations have since been defined through the Rotterdam facilities of Doctor Arnold JJ Reuser, Biochemist, Clinical Genetics, Erasmus University, Rotterdam. When I attended the Late Onset Pompe Observational Study in Seattle WA last year in 2004, a further diagnosis confirmed my Pompe condition as part of the study qualifications.

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