Pedro was born on 28.04.2019, without any symptoms. Even in the first weeks, he had intense reflux episodes, and was crying a lot, but without suspicion of any abnormality.
In his first three months he presented muscle weakness and difficulties in supporting his head. At 4 months he caught a cold that left him weak and with convulsions, the pediatrician recommended that we go to the neurologist. At the hospital, he began a research into rare syndromes, his MRI was showing extensive lesions in several important brain locations.
The neurologist recommended us whole exome sequencing and then the result came: ECHS1 deficiency, an extremely rare, neurodegenerative genetic syndrome. Since then he has regressed rapidly, requiring several hospitalizations.
In December 2019, when he got a cold, he went into a coma and was hospitalized again with a severe condition of metabolic acidosis. Since then he has been tube fed because of drowning easily. At 10 months he stopped reacting, he did not make eye contact, he did not react to auditory stimuli, he moved rarely (he only became rigid during convulsions).
Help us find a cure for Pedro and all the other children with ECHS1.