Rare Disease

When I put pen to paper (or fingers to keys) I did not know what I was going to write, I had no plan or agenda. I just wanted to tell you what it has been like living with my conditions. It was 20 years ago when I was diagnosed with my first rare disease. 300 million people are living with a rare disease worldwide. There are over 6000 different rare diseases with 72% of them being genetic, and 70% of those genetic rare diseases start in childhood.

I have Ehlers Danlos Syndrome and Charcot Marie Tooth Disease which are both genetic and both started in childhood – although were not diagnosed until my 20’s and 30’s. But that is not the point of this story. Looking back on my life over the last 20 years since my first diagnosis I don’t recognise the woman I was before, or who I became in the beginning.

I have evolved. This is my evolution.

Evolution

I never understood why people wrote in diary’s and documented their life when I was younger, I saw it as a complete waste of my time.  Plus, I would NEVER want anyone to find them and read my inner most thoughts and secrets, they were safer in my head for sure.  The parties, the people, the outfits, the hairstyles, the things that I thought were a great idea at the time… things that I’m glad were a phase.

Those times were fun but I am happy with the blurry half memories of the good bits and the laughter.

Then in my 20’s after I had not long given birth to my first child, in the midst of the hormones, the tiredness and a carrying around a body that decided not to work I was diagnosed with Charcot Marie Tooth disease.

My life as I knew it changed that day.

The outside world never saw it… I think that I hid it well? But right there in that moment I only really heard the words progressive, hereditary, incurable.

Who was I now? What did this mean? For me, my baby, my husband? Would he leave me? I wouldn’t blame him. Would I have more kids? Should I? When would I stop walking? How much pain would I have? Could anyone answer my questions? My inner voice was on a constant loop, noisy, frightened and ineffective.

I decided to pretend that I was OK, I hoped that by pretending it would become my truth. But the worry of the future and the grief for the life that I thought that I would live was like a vice around my chest every day.  So much so that I couldn’t take a proper breath.

I felt its weight as a pressure that I had to fight against every single day.

I had surgeries, I got through them.  I had more kids and with each one and with time it got a little lighter but it never really went away.  I became a master at not letting it show and learnt how to share my space with it.

What all this did take was energy, and this really was a problem.

Fast forward another 10 years and I was a mum of three.  A good mum, wife, we had a nice house, a good car, I really loved my husband and he really loved me. Phew!

But most of the time I was tired, like wading through mud and I hurt A LOT, an overwhelming pain where I wanted to cry most days. Which just made planning anything impossible and generally living quite tough, or it certainly felt that way.

We knew that our youngest has something going on, she was 18 months old and despite trying hard couldn’t walk.  She was not lazy.  She tried desperately hard to keep up with her brothers but when she stood sometimes her feet would actually face backwards. So we took her to a top Dr at a top children’s hospital… we paid.

In that appointment we were told that ‘she was within normal limits’. We knew better. But what really struck me, almost like lightening from the sky as I stepped out onto the pavement from that hospital was ‘Oh! this is not going to be easy’.

In that moment I woke up. In that moment a fire ignited in me that started like a flicker but in time would become a furnace inside me, a fire that would expand in me and allow me to breathe fully again. In that moment my little girl didn’t just have a mum I became her cheerleader, her advocate, her person.

Not long after that I began to write. Not a diary, but about things that happened to us; dance shows, hospital visits, holidays, tests and all the diagnoses that followed. My writing became a way for me to process my thoughts and as I did this I began to feel again. This had been the missing piece.

Over the last 10 years to be able to cope with my life I had shut down. Because I was living in my head, I was not able to feel in my body – because to feel in the beginning would have been overwhelming, unbearable.  Shutting those emotions out was my way of keeping me safe, but when you shut out the sad, angry, messy emotions you also shut out joy, happiness… you stop feeling – anything.

Writing let me process my thoughts and know that they are just that… thoughts.  They are not truth.  I had a choice about how I viewed my world.  I could view it through shit tinted spectacles or choose to see it another way.  I chose to see things differently.

And this has been the magic.

This is where I took back control.

Slowly I went back to re-write the circumstances of my own diagnosis, story by story and looked at things through a new compassionate lens.

Mindset became my secret success hack.

As I dealt with the past my focus was only on the present and the future. We can get so caught up in what has happened or what might be and tell ourselves stories about what may or may not be true we stop seeing what is true. What is right in front of us. What we have.

The day I lit that fire was the start and writing added fuel to that fire, so did the love of my husband, my children’s laughter, my family, the broken health and education systems, a glass of wine on a Friday night with my best friend, my kids diagnoses’, injustice, the sunrise on a frosty morning, a cup of tea, great sex, my son getting sick with ME and all the goodness in the world.

This ignited my fire for life again… all the messy, f**ked up, emotional parts of life that are just that – real life.

I don’t know when it happened, I suppose it was gradual process, but the vice loosened its grip till one day it had completely gone and I hadn’t even noticed. It wasn’t like a switch that flipped or a conscious decision that I made just one day I thought ‘Oh that’s not a thing for me anymore’.

I’d found myself again and I was showing my kids how to love deeply, live freely and advocate like a MF tiger.

Looking back helps you to see how far you have come, living there is not healthy.

Celebrating that is empowering.

Life will never be perfect. That is life. In accepting that, there lies the freedom.

More Information

The National Organization for Rare Disorders (NORD)

Ehlers-Danlos Support UK

Charcot Marie Tooth UK

Are YOU ready?

CHRONICALLY EMPOWERED WOMEN