About me

I have been writing poetry and stories since I was a child, and a love of reading was instilled in me from an early age. I am passionate about writing, and hope you enjoy the books I have written. Whilst most of you sleep soundly in your beds, like many Parkinson’s patients, insomnia dictates, so during those hours that sleep eludes me, the house is tranquil and quiet, an atmosphere perfect to immerse myself in writing. My life has been a series of strange events, which have without doubt contributed to my creativity. To publish anything is to bear one’s soul to the world. It is to stand naked and let everyone see who you really are. I have poured my heart and soul out on paper and I hope to share this journey, immersing you in a story, capturing your attention and firing the imagination. Through my writing and public speaking I hope to bring greater awareness to the general public about living with chronic disease.

Friday, February 28, 2014

Rare Disease Day 2014

I get to mark several special dates each year for October is Gaucher Awareness Month, April 11th is Parkinson's Awareness Day, and 28th February is Rare Disease Day. I guess I should count myself extra lucky that I fit so many categories. Not only do I well qualify for Rare Disease Day since Gaucher is a rare genetic disease, but what makes my particular case even more exceptional is that there are approximately under 200 patients worldwide who suffer both Gaucher disease and Parkinson's, a double whammy I wouldn't wish upon anyone.

Each year it is an opportunity to raise awareness of rare diseases mainly to the general public that get very little news coverage. By putting a face and name in telling personal stories of those suffering rare diseases, it is an effective way of reaching not only the public, but politicians, policy makers, researchers and scientists.

When I was diagnosed at the age of 5 with Gaucher disease, there was no such thing as a Rare Disease Day. There wasn't even a support group, and barely any information was known about a hereditary disease that hardly any doctor or hospital had heard about. A greater feeling of isolation and lack of knowledge or hope could not have been possible. Of course today thankfully it's a very different story, for we've come a long way, but there's still progress to be made.

I happened to look up the word "rare" in the dictionary, and one of the definitions made me laugh; "Not often seen or found, and therefore admired or valued very much." I don't think anyone with a rare disease would consider themselves admired or valued more because they suffer from a rare disease.

Take a look at my article this week in The Huffington Post which is about Rare Disease Day, and show your support by leaving a comment, or even just clicking on "Like" (not that anyone in their right mind would "like" to have a rare disease!) but it's a way of making your voice heard.

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