I was born with Gaucher disease; a rare hereditary disorder for which there is no cure. Gaucher disease results from a deficiency of a specific enzyme (glucocerebrosidase) in the body caused by a genetic mutation received from both parents, causing this lysosomal storage disorder.
Gaucher disease affects the liver, spleen, lungs, and bone marrow. Anaemia, bruising, bleeding, great fatigue, bone pain, bone deterioration, often leading to damaged joints, are all common symptoms. The weakening of the bones can then lead to spontaneous fractures, requiring surgery and joint replacements.
Today various enzyme replacement therapy treatments are available, administered by infusion,
which effectively reduce the size of the spleen and liver, improving quality of life. Patients treated from a young age are in a better position, having the best prognosis, and able to live a relatively normal life. However, patients who are older (like myself) and received the medication later on in life, possibly after irreversible damage had already been caused by the disease, are in a very different position, since the intravenous medication cannot repair damage already sustained, but can hopefully prevent further deterioration. Here ends your short lesson on a rare chronic disease that you have probably not heard about before.
As if having one chronic disease was not enough, and I'm never one to do things by halves; I was diagnosed at the age of 44 with young onset Parkinson's disease. Living with two debilitating diseases is far from easy. But, (don't you just love that little word 'but' - it always implies there's hope) I am fortunate to have a positive attitude and strong fighting spirit, and refuse anything to get the better of me. I have been blessed with the 'happy gene' as we have fondly coined this phrase in our family.
It's plainly clear to anyone with the slightest medical knowledge; there is no such thing as a 'happy gene'. However I think there has to be some explanation as to why some patients suffering chronic disease manage to battle through each day, staying cheerful and making the most out of their lives, and those who decide to wallow in self-pity and ultimately get very little out of life. A patient's attitude, not only affects their own well-being, but family and friends around them. I decided long ago, when quite young, to make the best out of a bad situation and enjoy my life to the full despite great adversity.
Of course having a good support system around you is fundamental. I am blessed to have a wonderful caring husband who has the patience of a saint, and a daughter who seems to have reversed our roles somewhat and I often wonder who is mother and who is child around here.
They both take great care of me along with our dog who now acts as an assistance dog despite the fact she was never trained for this role, but like most canines their instincts to protect someone ill or frail naturally emerge. Close family and friends are also supportive, each in their own way.
There is however another support structure that is vital and that is one's doctor and medical team. Parkinson's, a degenerative debilitating disease, affects many aspects of one's life, necessitating a patient to seek a neurologist, physiotherapy, speech therapy, counselling and physiological help for those who need it.
There are many support groups for people suffering from Parkinson's disease, and being in contact with fellow sufferers gives one a sense of not being alone and belonging to a global family of sorts (albeit unwillingly). What is it they say? "You can choose your friends but not your family" - I guess that's also true of Parkinson's, for we don't choose to be part of this 'family'. Uninvited it is thrust upon us by surprise.
Realising the importance of support, I write a daily blog aimed at fellow sufferers and caregivers, touching on every aspect and topic relating to living with chronic disease. My aim is to write in an honest candid manner offering advice or helpful tips, new information, or simply sharing my own personal experiences, so that others will not feel alone in their daily struggles. Please pass on my blog site to anyone you may feel can benefit http://elainebenton.blogspot.com/ Never take good health for granted - it's a precious gift.
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