The waitress sauntered over to our table and after taking our orders for the house burger that the restaurant is so famous for, pencil poised on her pad, she asked "Rare, medium or well-done?" I smiled and said "Rare" with full gusto! My husband gave me stern look over the top of his glasses at my mischievous grin, knowing full well the meaning of "rare" to the oblivious waitress was simply how some customers preferred their burgers, barely cooked and oozing with red juices. For me, the meaning of rare, immediately brings to mind one topic, which couldn't be further removed from burgers if you tried.
Born with Gaucher disease, I was introduced to the word "rare" at the tender age of five (no pun intended!), as patients with any rare disease will no doubt be able to relate. Once diagnosed with a rare disorder, life is never quite the same again. It's like having a permanent post-it stuck to your forehead with the words R A R E D I S E A S E written in florescent colours. This immediately makes you stick out like a sore thumb, different from everyone else; curious doctors see you as an interesting case, often bullied or made fun of by class mates at school, and even as an adult, a topic of gossip for neighbours or work colleagues. Apart from all that, the greatest difficulty is in finding a good specialist of a particular rare disease, suitable treatment, and a support framework.
Being diagnosed as early as possible with any illness, I think we can all agree is half the battle. When you know what you're dealing with, appropriate action can be taken, the correct doctors found, medication sought and hopefully keeping well informed and educated, you are in control to some degree. However bring the word "rare" into the equation, and this is where things begin to turn complicated. With so many rare diseases today, it would be impossible, not to mention unreasonable, for every doctor to have a good working knowledge of every single rare disease.
Many rare diseases have no treatment available. Although Gaucher still has no cure, this rare genetic condition, thankfully today can be kept under control by treatment. The medication is particularly successful when patients are diagnosed at a fairly young age and treatment begins early on, before any irreversible damage is caused by the disease. The medicine for Gaucher was invented a little too late for patients like myself, who diagnosed young due to severe symptoms, often lead to the removal of an enlarged spleen and living with Gaucher for many years, complications and bone pain are a constant problem for those in my age group with similar medical histories. The enzyme replacement therapy I take, cannot undo years of damage caused by Gaucher, but it does keep me on an even keel giving me the best possible quality of life, without which I would no doubt be in a far worse condition.
What makes my case rarer still, is that I suffer from a second disease, which is debilitating in its degenerative manner making my health a complicated and chronic situation. Gaucher and Parkinson's together, shaken not stirred, trust me, do not make a good cocktail. One disease exacerbates the other; any simple ailment a healthy person would quickly recover from, may create serious complications, the ramifications of which can be frighteningly swift and require immediate medical attention.
After slipping a disc a couple of months ago, I was amazed at how long it took me to recover, and the additional medical problems I encountered due to living with Gaucher and Parkinson's. I was brought to the very brink of despair, to breaking point, when everything appeared at its darkest, and even my hope began to wane. It was only then, at this low place, I suddenly understood with great clarity how easy it is to give up and slip away. Being struck with this epiphany, I knew only I could turn the situation around, by grabbing onto the reigns and regaining control, steering myself onto the road to recovery. Being aware that my future literally lay in my hands alone, I had to dig awfully deep, to find inner strength, coursing through my veins, which gave me the drive to carry on. It took every ounce of effort and energy to drag myself back, and revert to my former feisty self. Despite living with Gaucher disease and Parkinson's I refuse to give up, and remain positive with great determination continuing my personal battle and to campaign bringing further awareness to Gaucher, a rare disease.