Let me take you back in time to the sixties. Imagine for one moment you have five children, (I know a scary thought!) three of whom are diagnosed with a rare genetic disorder you've never heard of. You try to find out information, but there isn't any. You search for a specialist or clinic, but there are none. There is no cure or treatment available. You would love to talk to other people who suffer from the same disease, but no support network exists and you find yourself frustratingly alone with little hope. Doesn't this sounds like a parent's nightmare? This is what my parents faced when my brothers and I were diagnosed with Gaucher disease some 50 years ago.
Thankfully over the years great progress has been made regarding Gaucher disease, thanks to some very dedicated researchers, doctors and motivated members of the Gaucher community. No parent today has to face the dreadful isolation and hopeless situation my parents found themselves in. I'm glad to say, today it's a very different story; there is accessible a wealth of helpful information and good advice, active organisations, associations and support groups, painless diagnostic tests, treatment available, along with clinics and doctors who specialise in Gaucher.
Apart from my brothers, I didn't meet another Gaucher patient until I was 28 years old. Can you imagine how thrilled I was, to finally meet someone else who had the same rare disease, had gone through similar medical episodes, and with whom I shared much in common. Whenever I meet someone with Gaucher disease, I'm always struck by the immediate connection I feel, which ultimately pushed me into action. I am passionate about campaigning for although we have advanced by leaps and bounds since I was a child, this is no reason to sit back and become complacent. There is always room for improvement, and I believe in being proactive and speaking out, for each of us can make a difference.
As an advocate and Gaucher Disease Ambassador, I have been happy to share my story, in the hope of bringing greater awareness to Gaucher disease. Story telling enlightens others about a rare disease they may not have heard of, and can raise the general public's understanding of symptoms and treatment. It also allows fellow patients to know they're not alone and how others in similar circumstances cope with the many complex challenges of living with Gaucher. There is also great benefit in educating those in the medical field about the patient's perspective which they don't often get to hear.
I was honoured when asked to be on the international panel of judges for The Spotlight on Gaucher Film Contest aimed at patients and their families. I was excited to hear about the contest which encourages those living with Gaucher disease, whether a patient or other family member, to tell in a unique way their story of how they live with a rare disorder.
The worldwide Gaucher community are invited this summer, to participate in making a short film about life with Gaucher disease. If you would like to take part, have a look at this link where entry guidelines, tips on how to tell and film your own story, in addition to example entries for inspiration are provided.
The winners will be announced on 1 October 2015 which marks "International Gaucher Day" and will receive a certificate along with additional promotion and recognition for their film. All entries will appear on a Film Contest Website and a dedicated YouTube page.
The Spotlight on Gaucher film contest is supported by the European Gaucher Alliance (EGA), and is initiated, developed and funded by Shire. Shire will have no direct contact with the participants and the only influence on the content is ensuring the videos are compliant with the terms of the contest. Winners will be selected by a fully independent external judging panel comprising experts from different fields. The winning entries will be issued with a certificate and receive additional promotion and recognition on the contest website and YouTube page. Please note there is no monetary prize.
The contest is also being supported by the International Gaucher Disease Ambassadors, who are part of a programme also initiated, developed and funded by Shire.