I was born in England in 1963, the youngest of five children. From a very young age I experienced abdominal pain, had an enlarged spleen, excessive bruising and frequent nose bleeds. I had a poor appetite and sometimes couldn’t eat at all. My limbs were very thin, yet my stomach was grossly extended. Thanks to my older brothers I didn’t have to undergo countless tests or misdiagnosis like so many others. Two of my brothers presented symptoms early on, such as chronic bone pain and enlarged liver and spleen, and saw many doctors and underwent countless tests. When they were finally diagnosed with Gaucher, it didn’t take the doctors long to realise, I too had been born with the same rare genetic disorder. So at the age of 5, I had a painful sternum puncture performed under general anaesthetic, (in those days, this was the only way of testing for Gaucher) and it was confirmed that I had Gaucher disease.
So three of us out of five siblings were born with Gaucher disease, and two brothers who simply carried the Gaucher gene. With no available treatment, little information, no specialist or clinic to turn to, no support system or other families to connect with, we felt isolated and our futures looked grim.
As soon as I could read and write, I began writing stories and poems, expressing myself on paper, which I now realise, was highly therapeutic. Despite the doctors dismal prognosis, I grew up, finished school, started working, and married the love of my life. I became pregnant and after a normal uneventful pregnancy, gave birth to a healthy baby. I’m now 52 years old; I guess those doctors who gave such a poor prognosis back in 1968 were very wrong. Suffering a chronic rare disease has had a distinct effect on me, moulding me into the person I am today. No matter where I am, or what I’m doing, I grab life with both hands and make the most of it. I have a strong fighting spirit and my sense of humour remains intact.
In 1990, I met a professor who specializes in Gaucher disease and for my family and me, it was an unforgettable moment. In the hospital seeing the small simple sign ‘Gaucher Clinic’ it was an extraordinary feeling. For the first time in my life, I sat before someone who knew about Gaucher disease; understood what I had been through, had advice and information to offer. Finally I had a ‘place’ to go and a knowledgeable doctor who would take care of me.
Twenty-five years ago, when the first medicine became available I started enzyme replacement therapy by infusions, initially at the hospital, but thankfully, ‘home treatment’ was eventually put in place, improving the patient’s quality of life, by not spending countless hours in hospital on a regular basis.
As if suffering a rare chronic disease was not enough, at the age of 44, I was diagnosed with Parkinson’s disease. My life and that of my family became very difficult and we had to adapt and remain flexible now struggling with two diseases. Once again, I was fortunate to be diagnosed quickly, since my father, a Gaucher carrier, was diagnosed with Parkinson’s disease seven years before he died at the age of 73. In addition, one of my brothers who had Gaucher was also diagnosed with Parkinson’s disease seven years before he died at the age of 63.
In 2011, I wrote a collection of poems which was made into a book “ Parkinson’s Shaken not stirred” about living with Gaucher and Parkinson’s. From personal experience I wrote with stark honesty and humour. I poured my heart and soul into this book, giving a fresh perspective from the patient’s view. What started as merely a few poems quickly spiralled into an entire campaign, resulting in me writing a blog on wide-ranging topics fellow sufferers could relate to, letting them know they’re not alone in their daily struggles. Writing and public speaking often go hand in hand. I had the great opportunity of being invited to give an oral presentation in June 2012 at The First International Congress of Narrative Medicine and Rare Diseases in Rome. This was the first of many speaking engagements to follow. I have spoken at various organisations, groups and to student doctors. I believe there is need for education and greater awareness heard directly from patients.
This entire project has given my life purpose, keeping busy, having something of value to contribute to society which is highly important in sustaining me; probably the best medicine I could have received.
Although my life is far from easy, suffering Gaucher and Parkinson’s, there is a silver lining to everything in life. You’ve just got to know how to see it! It could be very easy to fall into depression and wallow in self-pity, but I strongly advise being cheerful and putting a smile on your face, making the best out of a bad situation. I am very fortunate to have a supportive husband and family around me, and couldn’t wish for better medical care. So despite adversity, I have a lot to be thankful for.
-Elaine Benton; England
For more information about Elaine and her written work visit http://www.elainebenton.net/.