Diego G

Diego was diagnosed with Non-ketotic hyperglycinemia (NKH) on the day of birth. His disability was evident from the first month of his life. NKH is a rare genetic disorder characterized by abnormally high levels of glycine, an amino acid that is one of the “building blocks” of protein. Typical symptoms include seizures, movement disorders (ataxia), spastic diplegia (spasticity in the muscles of the legs, hips, and pelvis), and optic atrophy (damage to the optic nerve causing progressive vision loss and problems with color vision); developmental delays and intellectual disability. This profoundly affects a child’s ability to learn and to do normal things such as eating, sitting, and walking.

Our day is a function of the needs of Diego. We wake up very early to give him his medications and food. We have lunch at noon and he usually takes a nap. On the weekends we watch TV, because Diego enjoys it. On the weekends, we also try to leave home and visit our relatives. Diego is not comfortable in crowded places (eg: Mall). On Tuesdays and Thursdays he attends therapy. The rest of the week he receives love from his mother during the day and father when he comes home from work.