What are the thoughts that race through the mind of a young child who suffers from a chronic rare disease? If you or a loved one suffer from a rare disease, you'll no doubt be able to answer this question, for it's elementary.
By the very virtue of the fact that a disease is rare, the road to diagnosis can be a rather long frustrating journey, and often misdiagnosis can cause unnecessary delays. Fears and hopes are raised and then dashed, experiencing a roller-coaster of emotions. Once a correct diagnosis has been made, although great relief at finally solving your own personal mystery, in which you appear to be starring, this is where you begin a crash course, learning all about a disease you may never have heard of before.
When I was a young child I had many bad nose bleeds, which is one of the common symptoms Gaucher patients may suffer from. I would never know when or where a nose bleed would occur, and if going somewhere, it would always be in the back of our minds. Attending a family party, I spent the entire evening sitting in a corner holding tissues up to my bleeding nose. I was unable to eat or drink anything and couldn't enjoy the party at all. I probably spoilt the occasion for my mother too. This was a frequent annoyance that we learnt to live with.
On one particular occasion, I had a nose bleed that just refused to stop. After several hours at home, having tried all the usual methods to stop the flow of blood, feeling weak and rather tired, my mother drove me to our local hospital. Can you imagine the reception we received at a busy Emergency Department arriving with what seemed a lousy simple nose bleed? When staff of an ER continually deal with life threatening situations, understandably little attention was paid to a mother and child with a nose bleed. We were politely pushed to the side, for the hospital staff were unaware my mother was not a hysterical type, not to mention they had never before heard of Gaucher disease.
We sat and patiently waited, and waited, and waited some more; my mother frequently replacing the blood soaked gauze pads she applied with pressure to my nose. We eventually became so exasperated at the lack of interest or care, we went out into the hospital gardens and sat for a while on a wooden bench. Still clutching my nose with a gauze pad we sat in silence and watched a child playing with a young puppy. I learnt early on in life that patience is a virtue, and I have since acquired bucket loads of patience living with a genetic chronic condition that to date has no cure.
Eventually it occurred to someone that we still hadn't been seen to, and suddenly the ER became aware my nose had by then been bleeding heavily for six hours. Finally they took notice and treated us with the courtesy and care we deserved. This whole episode took the best part of a day, where I once again missed school, and my mother yet another day unpaid from work. A few weeks later my nose was cauterised, and thankfully nose bleeds became a thing of the past.
Why am I telling you something that happened over 40 years ago? I grant you that Gaucher disease is more widely known of today than when I was young, but by patient's telling their stories, it brings attention to rare diseases, and gives them an identity creating greater public awareness. If you have Gaucher disease or someone in your family suffers from this rare condition, perhaps you have a story you'd like to share. Why not participate by entering a short film contest. For details please take a look at The Spotlight on Gaucher Film Contest.