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Sick but sassy #MitochondrialDisease #careaboutrare #Mito
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.
