What is Gaucher Disease?

Elaine Benton with her book: Parkinson’s, shaken, not stirred.

Elaine Benton writes about creative therapy in the September-October issue of ESRA Magazine. She express herself through creative writing and poetry in order to cope and process her health issues. Below she explains Gaucher Disease and shares a poem regarding living with Parkinson’s Disease. 

Gaucher is a rare chronic hereditary disease, affecting those predominantly of Jewish Ashkenazi origin. The disease is named after a French doctor: Philippe Gaucher who first described this syndrome in 1882. Gaucher disease results from a specific enzyme (glucocerebrosidase) deficiency in the body caused by a genetic mutation received from both parents. There are approximately 10,000 known cases in the world, and roughly 400 of these patients are in Israel. The disease course is quite variable, ranging from no outward symptoms to severe disability.

Gaucher disease is a lysosomal storage disorder, affecting the liver, spleen, lungs, and bone marrow. Anemia,

Dr. Philippe Gaucher

bruising, bleeding, great fatigue, bone pain (“bone crises”), bone deterioration, bone infarctions often leading to damaged shoulder or hip joints, and a generalized deterioration of the bones (osteoporosis) are also common symptoms. The weakening of the bones can then lead to spontaneous fractures, requiring surgery and joint replacements.

Today Gaucher disease can be diagnosed early through a simple blood test, and various effective treatments are available administered by infusion. This enzyme replacement therapy reduces the size of the spleen and liver and improves the quality of life, although to date there is no cure. Patients treated from a young age are in a fairly good position, and have the best prognosis, living a relatively normal life. However, patients who are older and received the medication after irreversible damage had already been caused by the disease, such as myself, are in a very different position for the medicine simply came out on the market too late for some of us.

Years ago the spleen if grossly enlarged was removed as a temporary solution, but this would ultimately cause severe bone involvement, so was done only as an extreme and last resort. Thanks to medications available today, which reduce the size of the spleen, removing the spleen is now a thing of the past.

Twenty one years ago the first ever Gaucher Clinic was opened in Israel at Shaare Zedek Medical Center in Jerusalem, run by Prof. Ari Zimran, who today is the leading specialist in the world for this rare disorder. My husband and I were part of the forming committee that founded the Israeli Gaucher Association which was led by Dorit Levy. Together we worked long and hard, bringing awareness of this rare unheard disease, not only to the general public, but to hospitals, healthcare clinics, doctors and nurses.  Through our joint efforts things have progressed vastly for Gaucher patients, and even home treatment was organised and made available, improving quality of life by not spending hours in a hospital environment, but able to receive treatment in the comfort of one’s own home.

As if having Gaucher was not enough, at the age of 44, I was diagnosed with Parkinson’s disease. There are a small number of patients with Gaucher and Parkinson’s disease (approximately 200 known cases in the world), and a link between the two has been established, creating much research, which hopefully will provide valuable information and insight into why and how people develop Parkinson’s which affects millions of patients around the world.

Living with two chronic debilitating degenerative diseases is not at all easy, but what has helped me through all this, and has literally kept me going, apart from my cheerful and positive attitude, has been writing. My doctor, when hearing I had written a book told me it was the best medicine I could have received, giving me purpose and something of value to contribute. I have always enjoyed writing poetry and stories, and thanks to insomnia (one of Parkinson’s many symptoms) I have had plenty of time in the middle of the night when the house is quiet, to sit and write. Anyone struggling with ill health, or other life changing circumstances such as bereavement or divorce, can benefit from pouring out one’s heart and soul onto paper. By writing down one’s thoughts, emotions, fears and hopes on paper, simply for one ‘self or in my case to share with others, is a healthy outlet. Keeping all those thoughts and emotions bottled up can be detrimental to one’s health. Not everyone can or wants to write however, and some find creative therapy through painting or sculpting.

I wrote a book aimed at Gaucher and Parkinson’s patients which is a collection of poems about living with chronic disease. The response was so amazing, that I could see there was need for support, and so I began to write a daily blog http://elainebenton.blogspot.com/ , speaking about many different topics which fellow sufferers and caregivers could relate to and feel they were not alone in their daily struggles.

This isn’t the End, there’s always Tomorrow!

Let me tell you, what I’ve planned for tomorrow,

What time I have left, won’t be spent in sorrow.

I’ll live life large as I can, the very best way,

Grab every moment, express joy each day.

Laugh and giggle, till my throat is sore,

Smile until, I can smile no more.

Dance, my ungainly jig, shuffle my feet,

To music that touches my soul, with its beat.

Kiss slowly those lips that say “I love you”

Make passionate love, till dawn breaks a new.

There’s so much to see, to do, touch and taste,

Not one single moment, I’m prepared to waste.

Like there’s no tomorrow, experience it all,

Grasping life in both hands, I refuse to fall.

My verve for life, cannot be extinguished,

The desire to LIVE, I refuse to relinquish.

If you’ve read my poems, I think you’ll understand,

The illusive ‘happy gene’, that lends a helping hand.

Despite Parkinson’s and Gaucher, my spirit remains strong,

I have faith there’ll be a cure, one has to come along.

 

Reproduced from Elaine Benton’s book of poems, “Parkinson’s, shaken, not stirred“© with author’s permission.

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