Saturday, October 1, 2022
Mitochondrial Health

Life with ECHS1 deficiency – the story of Nora

My name is Nora. I’m 6 years old and I’m diagnosed with a rare mitochondrial disease called ECHS1 Deficiency.

It’s an autosomal recessively inherited disease, both parents being asymptomatic carriers of the genetic mutation. Mitochondria are responsible for providing 90% of the energy needed by our bodies to sustain life and development. When the mitochondria fail, less energy is generated inside the cells. Therefore, I don’t have enough energy to walk or talk, my body doesn’t metabolize the proteins properly, leading to toxicity, also affecting my vision. ECHS1 is believed to affect 1 out of 40.000 people around the world, in Romania there is only one other known case.

ECHS1 Deficiency is a multisystem disease, affecting several organs and functions of the body, so I need a whole team of doctors and therapists to follow my disease, multidisciplinary approach is needed.


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