Paoletto, 14 years old. Autonomy in daily life for a person with Menkes disease

Paoletto today is 14 years old and from his birth is affected by Menkes disease, a rare genetic disease and rapidly progressive. The genetic alteration results in a lack of intestinal absorption and intracellular transport of copper (coenzyme essential to man, especially during the growth and neuromotor development) that leads to a serious damage at neurological, visceral and musculoskeletal levels. Our rehabilitation services started during his first month of life, adopting an integrated approach (neuromotor and speech therapy). The areas of intervention have focused on internal and external mobility (including access to the garden), accessibility to transportation, personal care, posture, e-accessibility and writing, interpersonal communication, integrations of AT within the educational pathways.