Hi, my name is Stephen, and I was born and raised in the small regional town of Taree which is about a four-hour drive north of Sydney, Australia.
I was diagnosed with what we now call GNE Myopathy in my late twenties after several years of trial and error with being misdiagnosed. Looking back my symptoms started to occur around sixteen years of age with foot drop but it wasn’t until some slight chest pain which caused me to be admitted to hospital with suspected myocardial infection that things started to get interesting. Further, investigations led to numerous specialist visits, but it wasn’t until a muscle biopsy was performed that I was formally diagnosed with GNE Myopathy some three years later.
I have been living with this condition for thirty-five plus years and yes, it has had its challenges, but I don’t think I would have ever attempted half the things I have achieved without the mantra of use it before you lose it.
I am retired with a background in management and training. To keep myself busy, I volunteer with our local Cricket and Basketball Associations (Boston Celtics fan here) which can see me travelling to different sporting venues across the country.
I also enjoy Family Ancestry Research, online gaming, and spending time with my crazy family.
I have recently remarried and between my wife Emma and I, we have six kids ages from thirteen to twenty-four, with the addition of five grandchildren who keep me entertained and on my toes.
Our journeys maybe different but our destination to find a cure for GNE Myopathy is the same. Hopefully, my experiences in life and navigating this disease can help make someone else’s experience easier.