Struggling up Shit Creek Every Day

There is a paradox in having a rare disease. On the one hand, you are special because there are so few of us with the same illness. On the other hand, there is the lack of empathy, compassion and understanding from those who matter most – from those whose support we need so desperately. Unlike the normal run of the mill illnesses where you go to the doctor, get pills and get better, or you go to the hospital, are treated and get better, we can only, if it is possible, get the medical profession to put a plaster on just one of the symptoms that are most debilitating at that time. And while life goes on for those who have acute illnesses, the ones with chronic debilitating and often terminal diseases are left behind by everyone as they get on with their lives. There is something terrible about having a rare disease. No one understands it, the patient knows more than the doctor and we just put a plaster on a broken leg every now and again, but the leg remains broken.

We are stuck in this place of half-way between healthy and dead; moving along the scale towards each end as quickly or as slowly, as an hour at a time, or a day at a time. We cannot plan for the future, not even if we will be able to eat the meal that is being prepared for dinner. We may be in the hospital, or we may have our heads hanging over the toilet bowl. Not even our next hour is able to be planned so people forget about you, until they need your advice. It is eventually only advice they ask for because we are unable to offer any physical assistance. We sometimes cannot even take care of our own personal needs.

Feeling shitty becomes our new normal. Some days we are shittier than normal and we may complain or tell someone we are not feeling well, but that falls on deaf ears. The doctors and medical staff withdraw their emotional attachment to you as the patient, because you are not going to get well, it is only a matter of time until you die and there is nothing they can do to improve your quality of life. If you tell people you are tired, they respond with, “I am also tired”. They have no clue that your tired is so tired that breathing and talking takes too much energy. If people see you they say, “Gee, but you looking well. You don’t look sick at all”. The sickness is not outside and we don’t walk around looking half dead, with shoulders hanging and shuffling our feet. We are trying our best to live and if that makes us look “not sick”, it does not take away the fact that we are sick. A broken leg is easy to see, but blood and enzymes and hormones and gene mutations are not what you see on the outside. When my new normal is shittier than normal, I just say I am undead. It is my new word for being half-way to dead and further away from being alive.

Having a rare disease also means that if you want to live, you have to become the medical detective. You will get to know much more than your primary doctor or even your consultant/specialist. Rare diseases are often so rare, that a medical practitioner may go through his entire career without seeing a single case. It is a very lonely journey we patients are on. We are left behind to mourn each skill that we lose, each friend who no longer comes around, a family member who finds visiting too depressing and we mourn for our previous lives. From somewhere in all this loss, we have to find a new purpose, a new foundation and a new meaning for a much restricted life. The suffering is often so bad that we become afraid that we will not die. We live in hope that tomorrow … or this afternoon … we may feel a little better. Chronic disease is a lonely road – and many chronic diseases are fatal. We don’t get better and so the social world moves on without us. I am left behind in a society-less world, in a sterile environment where my only companion all day is my laptop and social network.

I still breath, I have a pulse and I can think. An injured lion still needs to roar!