NORA is 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.