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, October 3, 2014

Gaucher Awareness Month 2014

October is Gaucher Awareness month and support groups are holding events and creating awareness in many novel and different ways around the world. Educating the general public about rare diseases is never an easy task.

Gaucher disease is just one in approximately 7,000 diseases considered to be rare. There are roughly 350 million people effected worldwide from rare diseases, which is more than Aids and Cancer patients combined. This means that the rare disease community is far larger than the general public realise. So maybe rare diseases are not so unusual and more common than we think!

It is far from easy reaching a correct diagnosis when a rare disease is concerned. The patient and family not only suffer great frustration through this long process, but there is also the economic impact on health funds and personal financial hardships that incorrect diagnosis, along with years of tests and seeing different specialists entail. Often children and adults can suffer ridicule, as if they are hypochondriacs seeking attention, when test after test rules out the common and most likely causes. Only when finally someone is diagnosed with a rare disease, as if solving the last piece of a puzzle, one can see the full picture. Great relief is found by patient, family and treating doctor, now understanding the symptoms and suffering, there is a feeling of being at long last, understood and acknowledged. Arriving at this point, for some, sadly can take years.

How times have changed since I was diagnosed with Gaucher in 1968 at the age of 5 years old. I was fortunate to be diagnosed quickly only due to having older siblings who were diagnosed first. Gaucher, being a genetic disease, once my brothers were diagnosed, it was fairly obvious in my case, what to test for. Back then there was so little information, no treatment available and patients suffered greatly in the hands of doctors who simply didn’t know about this rare disease. Today thankfully, things are very different, and I’m often pleasantly surprised to hear a doctor I’ve not met before tell me he/she knows about Gaucher. 

Rare, medium or well done? As it's October, I would have to say RARE! Take a look at my article in The Huffington Post.

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