I was born with Gaucher disease, a genetic disorder unknowingly passed on from my parents; a birthright I could have well done without. Some inherit the family estate, jewelry or a fortune, but my inheritance wasn’t something written in a last will and testament and handed to me in an envelope; it was unintentionally concealed in my DNA. I was further diagnosed with Parkinson’s at age 44, so I wear two hats as it were, advocating both diseases.
October is Gaucher Awareness Month so join me by wearing green shoelaces as a symbolic gesture. In an effort to raise awareness – each time someone posts a photo wearing green shoelaces on the “Steps Ahead of Gaucher” web site during October, Genzyme Corporation will make a donation to the National Gaucher Foundation to support research for a cure and programmes to meet the needs of people affected by Gaucher disease.
As an overlooked rare disorder, help promote understanding and unity in the fight against Gaucher, getting people to notice and become educated about this rare disease! Please help me and the 10,000 diagnosed Gaucher patients throughout the world, by spreading the word and sharing this article with family and friends.
Gaucher disease is caused by a deficiency of a particular enzyme (glucocerebrosidase). The body functions on a delicate balance and is more fragile than we imagine. When one small thing is thrown out of whack or is amiss, like a domino effect, the outcome can be highly damaging. Genetics is a complicated subject, so as an avid baker, a doctor once explained to me using a simple analogy. Imagine if a cake recipe had an error in the list of ingredients, with a mistake calling for a cup of salt instead of a cup of sugar! The cake would probably bake well enough, and served on a plate it might even look like any ordinary cake, but take one bite and you would immediately know from the unpalatable taste that something was definitely wrong. One simple wrong ingredient, too much or too little of something, can make a world of difference. Put in a nutshell, Gaucher is a bad recipe that can result in bone pain and severe fatigue to life-threatening complications.
Having a rare disease may sound special, but believe me, it’s not. Growing up isolated, I never met another Gaucher patient and had no form of support in my youth. Like with any disease, finding a support network is important, but due to privacy laws regarding a patient’s medical information, finding fellow sufferers of a rare disease can be very problematic, especially when there are so few of you. A rare disease necessitates doctors who understand and have experience with a particular disorder. Treatments and medications, due to a small demand are often seen of low priority and therefore research and development are highly expensive, making matters very difficult indeed.
I was contacted by Michael Margolis, a Television Producer from Los Angeles who is making a series of webcasts to connect the Gaucher community worldwide, for patients, their families and also doctors specialising in this rare disease. The project is called GDP2P which stands for “Gaucher Disease Patient to Patient” and the aim is to connect, inform and empower all Gaucher patients. I was interviewed by Michael and introduced myself, expressing an interest in future webcasts, with the possibility of focusing one segment on the connection between Gaucher and Parkinson’s disease. I have talked in front of small and large audiences in various countries, but put me in front of a camera, and I stammer and struggle to get my words out. My short segment with Michael would probably do well on a “bloopers” show! If you have Gaucher, or like myself suffer a double whammy of Gaucher and Parkinson’s, perhaps you would like to participate in this exciting new innovative project, or have suggestions as to particular issues you would like to see included in future webcasts. Please go to my website where you can send me a message. I think this could be a wonderful opportunity of hearing from fellow sufferers around the world, making connections and creating an international community that will strive to offer the latest medical information and news. Keeping up to date and informed is paramount when suffering any chronic illness.
If you would like to learn more about Gaucher disease, take a look at a previous article “What is Gaucher Disease?” You can show your support for this novel campaign by wearing bright green shoe laces to help bring about a brighter new future to those suffering from Gaucher disease.
Elaine Benton
Author and blogger battling two chronic diseases while maintaining a positive attitude and sense of humor
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