Sacha lives with a rare genetic condition linked to a double mutation of the ERCC2/XPD gene. This condition causes multiple impairments that are still only partially understood, making his medical care complex and constantly evolving.
His daily life is heavily structured around strict photo-protection due to an extreme sensitivity to UV radiation This medical constraint directly affects outdoor activities, travel and his living environment. From a motor and neurological perspective, Sacha experiences balance difficulties, low muscle tone (hypotonia) and foot deformities that affect his walking and coordination It requires constant adaptation and careful anticipation of everyday situations.
From a motor and neurological perspective, Sacha experiences balance difficulties, low muscle tone (hypotonia) and foot deformities that affect his walking and coordination. These challenges are accompanied by significant fatigue and require regular periods of rest.
His overall development also requires support with everyday tasks. At present, independence has not yet been achieved for activities such as dressing, eating or personal hygiene, which require ongoing and appropriate assistance.
Communication relies on non-verbal and emerging forms of expression. Sacha uses signs inspired by sign language, sounds, facial expressions and eye contact to make himself understood. This communication works well within familiar surroundings but remains more challenging with people who do not know him, which can limit spontaneous interactions.
He also experiences significant attention difficulties and motor restlessness, making it hard to sustain an activity or maintain concentration for long periods. His awareness of danger is not yet fully developed, which requires continuous supervision.
Together, these challenges create a very specific daily reality that demands constant adaptations and careful organization in order to meet his essential needs and ensure his safety.
