October is Gaucher Awareness Month, so join in by wearing green shoelaces as a symbolic gesture.
In an effort to raise awareness, each time someone posts a photo of themselves wearing green shoelaces on the “Steps Ahead of Gaucher” Web site (www.stepsaheadofgaucher.com) during October, Genzyme Corporation will make a donation to the National Gaucher Foundation to help research for a cure and programs to meet the needs of people affected by Gaucher disease.
An overlooked, rare disorder that affects just 10,000 people throughout the world, Gaucher disease is caused by a deficiency of a particular enzyme (glucocerebrosidase), and patients are predominantly from Jewish Ashkenazi origins. Many are virtually asymptomatic, diagnosed incidentally because of prenatal or other genetic screening.
The disease is named after French doctor Philippe Gaucher, who first described it in 1882 from observing one of his patients. The symptoms may begin early in life or later in adulthood, and include enlarged liver and spleen, osteopenia (low bone mineral density), symptomatic skeletal features such as “bone crises” (episodes of chronic bone pain), osteonecrosis (bony destruction) of joints, pathological fractures (not caused by trauma), and diseased bone marrow, along with great fatigue, anemia, risk of infection and bleeding.
The body functions on a delicate balance, and when one small thing is thrown out of whack or is amiss, like a domino effect, the outcome can be highly destructive. Genetics is a complicated subject, so as a Gaucher patient, I once had a doctor explain it to me using a simple analogy. Imagine if a cake recipe had an error in the list of ingredients, 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 very wrong. One simple incorrect ingredient, too much or too little of a component, can make a world of difference. Put in a nutshell, Gaucher is a bad recipe that can result in bone pain and severe fatigue and even life-threatening complications.
After many years, finally the availability of enzyme replacement therapy (ERT) has revolutionized the position of Gaucher patients.
Deemed both safe and very effective, the medication is administered by infusion, generally bi-weekly, and dose is according to body weight. Platelet counts in patients with extremely enlarged spleens may require longer periods to respond, but dramatic improvements continue during the first two to four years of therapy. Thereafter, regardless of dosage, responsiveness of all major disease features and markers plateau, and most patients achieve stabilization. Bone improvement is considerably slower, but there is slight improvement over time.
I am not a doctor. I’m merely a patient born with Gaucher disease, unknowingly passed on to me from my parents – a birthright I could have well done without.
Some people inherit the family estate, jewelry or a fortune, but my inheritance wasn’t written in a last will and testament; it was unintentionally concealed in my DNA. And as if suffering one chronic disease were not enough, for good measure, at the age of 44, I was diagnosed with Parkinson’s.
Suffering two debilitating chronic diseases is far from easy, and has drastically changed my life and that of my family. Sharing my thoughts through writing, I have written a collection of poems from personal experience, entitled Parkinson’s, Shaken, Not Stirred.
From this small book, a campaign of sorts was launched as I found myself taking on public speaking engagements to create further awareness of both diseases. I began to write a daily blog, which is now followed in over 70 countries around the world. My aim: to offer support to fellow sufferers and caregivers.
As so many could relate to what I was talking about, I decided to write my life story, A Silver Lining. No matter how hard life can be, I try to remain positive and maintain a sense of humor, and my fighting spirit enables me always to see the glass as half-full.
Despite adversity, I am able to count my blessings and see the silver lining in everything.
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 – patients, their families and doctors specializing in the 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 expressed an interest in future webcasts, with the possibility of focusing one segment on the connection between Gaucher and Parkinson’s disease.
Keeping up to date and informed is paramount when suffering any chronic illness.
People who have Gaucher – or like myself suffer a double whammy of Gaucher and Parkinson’s – and want to participate in this innovative project, or who have suggestions as to particular issues they would like to see included in future webcasts, can send me a direct message via my website, www.elainebenton.net. This is a wonderful opportunity to connect fellow sufferers around the world, creating an international community that will strive to offer the latest medical information and news.The writer was born in England in 1963 and is an author, an international public speaker and an advocate for Gaucher disease and Parkinson’s.