The story of Nora

My name is Nora and I’m 6 years old. I was diagnosed with a rare mitochondrial disease called ECHS1 Deficiency at age 1. My body is unable to metabolize proteins properly so I need a special diet to help me control my symptoms and to slow down the progression of the disease. I’m unable to talk and to walk, I’m loosing my vision but I try to stay a positive and happy little girl, enjoying every moment with my family, friends and my dog, Lulu, hoping that soon there will be a cure for ECHS1 Deficiency.

Life with ECHS1 Deficiency - The story of Nora