RARE and ignored in ireland

What's it like to live 'rare' in Ireland? Living RARE is a term used by those of us living with a rare disease, or a disease no doctor understand but knows exists.

There is an organisation entitled 'syndrome without a name': SWAN.  It supports hundreds clearly sick or disabled by objective testing but no one know what or why of that disease process. Living RARE is a nightmare.

Being a SWAN is a nightmare.

Your doctor hasn't a clue what to say, how to help, or in some cases accuses you of making it up, or being 'soma form' ( psychiatrically  ill).

In my case there are, mercifully, tests results that prove a disease process. I do have parkinsonism, I do have muscle myopathy, I do have dystonia, and I do have a metabolic disorder. But unlike sums that add up to give you a correct total, here there is no total. Adding it up leaves nada under the line!

Living RARE is utterly lonely. Utterly isolating. Utterly frightening.

Your brain is constantly trying to understand, trying to figure out something that is happening in your body. It's exhausting.

Why is my foot turning in?
Why can I not walk?
Why are my muscles dying?
Why do I shake?
Why do my bowels not work?
Why am I incontinent ( intermittent)
Why do I vomit?
Why do I sometimes feel like I'm going to die?
Why is my blood pressure all over the shop?
Why is my sight going?
Why , why, why...drives me nuts in frustration. I want to know. Oh yes, I want to know.

The docs can say your muscles are deteriorating , they can say your brain is buggered, aka disintegrating, they can say, you don't make energy for cells to work...but no-one can say why. No-one can tell me the mechanism of my disease.

They tell me I have mitochondrial disease. This is an umbrella term for a range of mitochondrial disorders. Such as...

Leigh
LHON
MIDD
MELAS
NARP
MERRFF
CPEEO
PEARSON SYNDROME
KEARNS SAYRE SYNDROME
MNGIE
SENGERS SYNDROME
EGDEL SYNDROME

all mito disease. There are more. But though I have the symptoms of some of these conditions, my
cluster of symptoms, or phenotype in medical speak....is not recognised, known, seen before!

I'm living with a beast on my back that no one recognises!

Meanwhile those around you think you are making it up, because you cannot name it, and have never heard of mitochondrial disorders.

I don't like being RARE, I don't like being a SWAN.

I long for the day a doctor will tell me...we know what's going wrong. We know why this is all happening. We have a name for it. We KNOW NOW!

There won't be a cure. There are no cures for mito. You slowly, or not so slowly...edge towards that ultimate end, slowly or not so slowly disintegrating.

But as the saying goes..."Better the devil you know, than the devil you don't"

Until that day of 'knowing' I'll fight to get the answers and no doctor can tell me 'don't focus on finding the 'why', the 'what', focus on the symptom and how to live with it. Er ....NO....( well yes, too) but NO ...I'm focusing on identifying the devil.....for I'm simply not good with a RARE on my back .

No good at all.