THE BLOG

Rare Disease Group Shapes It's Own Destiny

20/03/2014 10:42 GMT | Updated 19/05/2014 10:59 BST

There is exciting news for Gaucher Patients. A new monthly scheduled webcast, much like a "CNN programme", created by and for Gaucher Patients, made its début on March 10th 2014. The webcast is called: GDP2P which stands for "Gaucher Disease, Patient to Patient" hoping to link Gaucher patients worldwide in an effort to keep everyone well-informed on issues affecting general day to day well being. The programme spearheaded and produced by Michael Margolis, not only is a television producer in Los Angeles (with a background in creating reality shows), but also happens to have Gaucher disease. Michael has been in touch with other patients including myself and doctors who are top Gaucher experts, Skyping in from around the world.

I've been in contact with Michael over the last few months and a line he wrote to me struck a chord, as this is how I try to live my life. Michael said: "The programme strives to help patients make the least of their disease and the most of their lives." Hearing this, I knew I'd found a kindred spirit and someone who was on the same wave length as myself with a great positive attitude, and I'm happy to be included in this exciting new venture.

Living with a rare disease, support and information are of the utmost importance, but finding other patients is often very difficult. With doctor patient confidentiality, a doctor naturally cannot put patients directly in touch with each other. We all want our privacy upheld, but this also makes it impossible to trace other fellow sufferers. However once word spreads of a support group or forum where one can be in touch and gain knowledge from others with the same disease, numbers grow as patients start appearing out of the woodwork. I hope this article reaches those who would like to make contact with and be part of the international Gaucher community. In numbers we have strength, support and share valuable up-to-date information.

The webcast is breaking new ground in active patient involvement, but also importantly integrates expertise from some of the worlds top medical authorities. The first episode provides advice which should be of interest to all Gaucher patients in regard to their visits to the dentist. The featured segment will hopefully clear up confusion from patients and dentists who may encounter certain anomalies found on some Gaucher patient's x-rays. I know from personal experience I've had pain in my lower jaw many times and after a visit to my charming dentist (sorry ladies, but he's spoken for!) after x-rays and a thorough examination, he has been unable to find anything wrong from a dentistry point of view. The lower jaw bone is a long bone, much the same as a leg or arm. Therefore patients who experience bone complications and are prone to bone pain (particularly those who are splenectomised) may have periodic bouts of unexplained pain in the lower jaw. Unfortunately there is little data at present regarding this topic, but hopefully the GDP2P webcast will make patients and doctors specialising in Gaucher disease a little more aware of this abnormality.

Also included in the 30 minute webcasts are inspirational stories and biographies of Gaucher patients from around the world. Future monthly episodes will feature topics such as: a survey on infusion methods, the link between Gaucher and Parkinson's disease, pain and fatigue management and many more common symptoms experienced by numerous patients. If you have Gaucher disease, or take care of someone with Gaucher and you'd like to participate in a Webcast, or have a topic for discussion you think would be of interest, please contact reachgdp2p@gmail.com

When you have a rare disease, discovering a fellow sufferer, is almost like finding a long lost relative for you feel an immediate connection as if you are hereditary linked in some way. Many patients may never have met anyone else with the same disease, so when a Gaucher sufferer first encounters fellow patients, they are struck with the reality, they are much more than a statistical sub-group. They are a lively, colourful, talented vibrant bunch, and by sharing stories and experiences, no longer feeling alone, this can only be beneficial and empower all concerned.

Gaucher patients are few and far between, with approximately 10,000 diagnosed worldwide. The webcasts have the potential to harvest the most up-to-date information, locate the best treatment centers, find inspiration and deal with day to day practical problems. Help me spread the word by passing this article on, or sharing it on face book. To quote Shakespeare: "It is not in the stars to hold our destiny but in ourselves." So let's make some noise and get this show on the road, as a rare disease group shapes it's own destiny.

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Image supplied by Elaine Benton