ECHS1 Deficiency is a recently identified inborn error of valine and fatty acid metabolism. It is a progressive neurodegenerative disorder with no treatment or cure. ECHS1 Deficiency and Leigh Syndrome are mitochondrial diseases. Mitochondrial diseases affect the ability of our body to break down food (metabolize) in order to produce energy. Most of the children affected by a mitochondrial disease don’t even have the energy to walk or talk. They are in great danger during infections and illnesses as mitochondria can be found in all the cells and it should produce energy. When it doesn’t work properly, the organs like the heart, liver, kidneys start to shut down because there isn’t enough energy to protect the body from the virus and to maintain the functions of the organs in the same time.
Meet NORA: She is 3.5 years old. She stopped making any progress when she was 3 months old, she never had full head control, she doesn’t sit, talk or walk. She was diagnosed only when she was 18 months old and she is the only child diagnosed with ECHS1 Deficiency in Eastern Europe, therefore it’s very hard to find specialists and appropriate medical care for her.
Nora lost her vision almost completely, the brain damage progressed significantly and she’s having uncontrolled muscle spasms several times a day.
Despite all these, she is a real warrior princess, she likes listening to music and cartoons, getting long massages and smiles as much as she can. Nora enjoys spending precious time with her family and many friends, who are all hoping to find a cure for her.
We are hoping that a custom gene therapy will be developed in time to save Nora’s life, after the painful loss of her sister, Anna, age 1, misdiagnosed back in 2014.
We believe that research will eventually lead to a cure and provide Nora and other children diagnosed with ECHS1 Deficiency the opportunity to live full lives.
The medical team of UT Southwestern from Dallas, Texas conducted by Dr. Berge Minassian began to develop a gene therapy for children with ECHS1 which can reestablish their functions and save their lives. The cost is $350,000 for the preclinical trial.