THE BLOG

October - Gaucher Disease Awareness Month

30/09/2015 14:46 BST | Updated 30/09/2016 10:12 BST

1 October is the beginning of Gaucher Disease Awareness Month and the importance of bringing this rare genetic disorder to the forefront, creating greater public awareness is no less important this year than last. Great strides have been made over the years and I have witnessed a huge change for the better, thanks to worldwide efforts of patients and their families and doctors alike. We have come so far and achieved so much, now is not the time to let progress grind to a halt. There is no room for complacency and continued campaigning is of utmost importance.

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.

Let me tell you a story of what happened one dark winter's night, a long time ago, when there was little information and no treatment available for a rare disease called Gaucher. A little girl who was barely nine years old, lay in her bed clutching a small stuffed toy rabbit. Weak and pale, she had been in terrible pain for hours. Her anxious mother sat pensively at the bottom of the bed reading a story, in the hope of comforting her daughter. Feeling helpless is not a pleasant feeling for any parent, and receiving no support or help from her local family doctor, the worried mother felt terrifyingly isolated.

Not knowing what was happening or receiving any form of medical intervention the mother had no one to turn to. It was in the middle of the night when the mother could stand no more and rang once again the doctor's emergency number, pleading for help. The doctor was irritated being disturbed at such a late hour. It was bitterly cold, and he didn't cherish the thought of venturing out on such a night, but could hear the increasing desperation in the mother's voice over the phone. He reluctantly agreed to make a house call and arrived shortly after, standing on the doorstep with a look of annoyance on his face and curtly said "I hope I haven't been called out for nothing."

The doctor took one step into the house and his stern expression immediately changed to one of shock and apologetic empathy. He had not yet even seen the limp small figure of the girl suffering horrific constant pain in her distended abdomen, but the distinct and unmistakable smell of blood that filled the house, told him the child was very ill, and was in fact haemorrhaging internally. He immediately ordered an ambulance and within minutes the little girl and her mother were rushed to hospital.

Thankfully this story ended happily, as the hospital took good care of the little girl and she eventually grew up, marrying her Prince Charming and had a daughter of her own. You have probably guessed by now the little girl I speak of, is me! A night like that is hard to forget, and is why I continue to bring attention to the rare disease I was born with. Please help in spreading awareness of Gaucher disease by sharing my story, to ensure no other child and their stuffed toy rabbit have to needlessly suffer.

If you would like to know more about Gaucher disease, please go to The National Gaucher Foundation.

http://www.elainebenton.net/

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