Living with a rare disease is like seeing a party full of people in a glass box. There is a thin panel of glass between you but you’re unable to join them. Missing out on all the food, drink and dancing! This is exactly what it is like having a rare disease. We are on the outskirts of the more recognised conditions. Having the same symptoms or similar treatments but unable to access the same support and recognition from the doctors. Experiencing the similar anguish leaves us feeling lonely outsiders and fighting for understanding of our illness.
After visiting numerous departments and having every investigation known to man another specialist says those dreaded words…. “I don’t know what this is” and so it starts again...’Groundhog’ day, as another department takes on the ‘challenge’. Eventually you are put into a pigeon hole that your symptoms are down to a psychological disorder, even though in your bones you know there is something physically wrong. For me I knew there was a medical reason why I could not empty my bladder and bowel in my heart. I did not stand for this quick and easy diagnosis. As we know once those words are on your notes….that’s it! It’s very difficult to get this changed and investigate further!
I’m guessing lots of us have experienced explaining, (yet again) our condition to different doctors, only to be faced with blank or perplexed looks. So, here begins our education in becoming an ’expert patient’ or an ‘empowered patient’ in our disease. A quote comes to mind by Norman Cousins:
"Each patient carries his own doctor inside him.”
In my case after years of battling to be heard I eventually got referred to the specialist Neurology centre in London, where I had specialised tests with one in particular been the tilt table test. I was completely unable to move with safety straps over my chest and legs. Plugged up to a million machines all designed to let the doctors know that I was still breathing. Once tipped upside down I felt like I had been abducted by aliens torturing me until I fainted. The experience was anything but pleasant. Eventually I got the diagnosis that I fitted under the umbrella term of Autonomic Neuropathy (Dysautonomia). Due to my bladder and bowel failing on the autonomic system the specific type I have is similar to Autonomic Failure and Multiple System Atrophy (MSA) but different and has yet to be named. With only a handful of people with this in the UK. Apparently I felt some relief and after years of doubting myself there was an actual medical reason for my symptoms. That moment didn’t last long when I soon discovered that there was no cure and the hospital couldn’t do anything. I was dropped from London apart from a yearly appointment and was under no Neurologist where I lived, left to navigate myself in the deep dark blue sea with this news. Due to the rarity and the inability to, as yet, name my particular branch of Autonomic Neuropathy I was stuck with no particular support group and the medical staff in my area not knowing anything about it. I do not blame them but repeating my story time and time again and explaining what I have, you start to feel totally alone realising that you know more than the medical staff. Trying to desperately control everything scared to hand it over into their hands. Before this appointment I had an ileostomy (aka ‘Bob the knob’) and a few years after that appointment I had an Urostomy (aka ‘Squirt’). Again for me I found it very challenging and frustrating, not quite fitting into certain illnesses that warrant a stoma of some sort e.g. Colitis or Crohns. I was unable to acquire certain grants to help financially with items I had to purchase because of a leaky ileostomy, due to not having these conditions that caused me to have stomas.
One particular incident will always be engrained in my memory. I was in Bristol and I had my indwelling catheter with a bag attached to my leg. Sitting in the disability seats an older lady shouted profanities at me for being inconsiderate sitting in that area. In this instance I pulled up my trousers and showed her my leg and I think Bob. She soon quietened down but these are some of the issues we face justifying ourselves constantly.
We all feel similar anguish, frustration and utter despair to first get a diagnosis and second, trying to exist with a universal lack of knowledge of your illness in society and the medical profession; however, there is hope in the identification with people experiencing the same issues. There are excellent websites that may not be about my exact condition but are about rare diseases and the same issues we face. YOU ARE NOT ALONE!! We must all unite together and remember:
„We may be rare but we’ve got roar!“
“Anyone who keeps the ability to see beauty never grows old.“