How do you get the general public's attention rousing interest in a rare chronic disease? As a patient advocate and ambassador for Gaucher disease, I have written about every aspect imaginable of living with a rare disease.
I had four older brothers and as the only girl in the family, my mother and I had a close relationship. I left home when I was 21 and not once did my mother voice any concerns or worries, but whole heartedly showed her support, realising it was time for me to find my own way.
If you live with a rare disease like myself, no doubt often out of necessity, you have become your own advocate. I can't recall how many times I've had to explain to medical staff about Gaucher disease, the rare disorder I was born with.
I am always scouring the internet, reading articles and keeping abreast of new developments that may help improve my quality of life, living with Parkinson's. Just like other patients, I have learnt an awful lot in the eight years since diagnosis.
Early diagnosis and treatment can help those living with Gaucher disease lead a better quality of life. Children should not have to endure what I went through as a child. Those memories stay firmly in my mind, and perhaps for good reason, as this gives me incentive to strive for better understanding of Gaucher disease.
Knowing how important physical exercise is to keep Parkinson's at bay, I have taken to swimming on a regular basis, in the hope this will help retain my mobility for as long as possible. The other morning as I entered the Sports Center, I was practically accosted by a woman who appeared out of nowhere.
So onward and upward, I find myself interested in those who run marathons, take part in triathlons, cycle or participate in other sporting events. I cannot participate, so have to be satisfied with being a spectator and writing about those who inspire me!
I grant you that Gaucher disease is more widely known of today than when I was young, but by patient's telling their stories, it brings attention to rare diseases, and gives them an identity creating greater public awareness.
Making a good first impression and leaving your mark is important, but sometimes circumstances dictate an outcome different from what you had hoped for. A particular incident that happened to me a number of years ago comes to mind. I don't think I left the desired impression, but I'll let you be the judge of that...
There are certain wonderful memories that stick firmly in my mind and one particular occasion always makes me smile. Some years ago, my parents-in-law were staying with us during a particularly wet winter.