careaboutrare

#RareAndMighty

Today is world rare disease day! I have an unknown mitochondrial disease.
This has robbed me of use of my muscles to sit unaided, damaged my spinal cord causing paralysis, weakened my diaphragm to a point of being ventilator dependant with a tracheostomy, left me with a feeding tube and catheter and caused issues with my eyesight. I have several comorbidities of mitochondrial disease, including a rare copper deficiency resulting in me needing regular IV copper infusions, I'm anaemic needing regular iron and weakened my immune system so I need regular IV antibiotics. Because of this I've also had to get a Hickman central line in my chest to provide IV access.
I've had my body taken away from me, bruised, scarred, covered with tubes and unable to perform simple bodily functions without tubes and medical devices. I suffer intractable pain daily meaning I also now have an intrathecal pain pump to release painkillers into my spinal fluid in order to improve my quality of life.

What is ?
Mitochondrial disease is a genetic condition whereby the mitochondria in the cells essentially start to fail or you dont have enough of them to provide sufficient energy for organ function. Mitochondrial disease is progressive and in my case life limiting. You have mitochondria in every cell of your body except red blood cells. When the mitochondria fail, organs start to fail because there's not enough energy to power them and daily we suffer from fatigue due to our cells literally being drained of energy.
There's no actual treatment for , symptom control using a specific 'Mito cocktail' to provide added supplemental support to the cells and help boost mitochondrial function, but cannot stop the damage from happening, just hopefully make it happen slower.
KILLS more children than all childhood cancers combined.
Why is it so unknown!? I have had doctors tell me I know more about my condition than they do. It is wrong! This illness has left me fighting for my life multiple times and daily I have this fight with my body.

I'm so fortunate to have been invited to the Global Gene's 2018 Rare Disease Summit....AND....My favorite moment of the week!!! I just met and had a fabulous discussion with @themighty founder and CEO @mikeporath !!! #2018GGSummit #tripmade #careaboutrare https://t.co/fkQ60rK8Dw.

Rare used to be beautiful
A flawless gem found untouched,
The sight we long to see.
A moment that changes a life.

Now, rare has thrust us into a barren world.
It is now disfigured,
The label no longer sought after
Rare is now the enemy
Our future clutched in it’s chaotic vice
The unknown is now our battlefield
The darkness of uncertainty surrounds us

Hope lighting the way around our stadium,
It’s flames burning bright on our torches.
We are Fighting for recognition in a sea of uniqueness
Pleading for importance, that we should be deemed worthy.
The chosen being anointed with more precious light,
And a treasure of bejeweled answers.

How we sometimes long to fit in,
Be part of a large army
Who’s numbers overwhelm,
And voices are too loud to be passed over.

Desperate to be singled out and rewarded,
seems almost more cruel,
Knowing so many others like us,
long to be the rare among rare.
#careaboutrare #NUBPL #teamcarterman