Hello the Pompe Community
My name is Roly Parsons and I was diagnosed with Late Onset Pompe Disease in April 2018 and began ERT in August last year. I live in the Pilbara region of Western Australia. The name of the small city I live in is Karratha and it is about 1000 miles north of Perth - my nearest capital city.
I was lucky enough to be diagnosed relatively early in terms of symptom progression. An early challenge for myself and family (which include a set of triplets and their slightly older sister) has been the fortnightly commute to Perth for my ERT. Living in a very isolated city, I am forced to spend two days away from home to access the treatment. My wife and support team at home (and employer) have managed these regular absences extremely well.
As mentioned previously, my quick diagnosis, relatively mild symptoms and quick access to the ERT has definitely helped slow the progression of my symptoms. Obviously, this is an extremely good outcome as it allows me to continue working a physically demanding job as well as spending quality time with my young family. Not only is this beneficial physically but also mentally. We live in a beautiful part of the world and explore as much of it as we can at every opportunity.
We are now in the process of finalising details to get the Myozyme infusions made available in Karratha - which will make the fortnightly infusions a lot less intrusive in regards to my family and working life.
As hard as it is at the beginning, after initial diagnosis and a whirlwind of uncertainty, things do get easier and an enjoyable life and lifestyle is not only possible but very attainable.
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