Translated from French:
Leonard turned 30 years old at the end of 2018. He suffers from a drug-resistant epilepsy, very active, appeared when he was a baby, and has not stopped since changing shape ... When Leonard was a child, epilepsy was secondary for us in relation to his slow, disordered development, and all the difficulties he and we encountered: eating when he was small, very complicated sleep for a very long time, periods of anxiety. ... In adolescence and since, epilepsy has taken precedence over the rest, in consequence in everyday life (falls, fatigue, very heavy drug treatment), and in the possibilities of activities and places to live.
After 27 years of questioning and research, we finally have an answer to the origin of Leonard's disease: an exome study done in April 2015 showed an anomaly on the KCNB1 gene, a de novo mutation, of which neither my husband and I, nor our eldest son, are carriers. Leo's developmental delay is very significant, and his autonomy is reduced, but even if daily life remains complicated and out of touch with the "normal" world, he is also a young man with charm, intense moments of communication, even if non-verbal, a great adaptability and pleasure to live.
Leonard turned 30 years old at the end of 2018. He suffers from a drug-resistant epilepsy, very active, appeared when he was a baby, and has not stopped since changing shape ... When Leonard was a child, epilepsy was secondary for us in relation to his slow, disordered development, and all the difficulties he and we encountered: eating when he was small, very complicated sleep for a very long time, periods of anxiety. ... In adolescence and since, epilepsy has taken precedence over the rest, in consequence in everyday life (falls, fatigue, very heavy drug treatment), and in the possibilities of activities and places to live.
After 27 years of questioning and research, we finally have an answer to the origin of Leonard's disease: an exome study done in April 2015 showed an anomaly on the KCNB1 gene, a de novo mutation, of which neither my husband and I, nor our eldest son, are carriers. Leo's developmental delay is very significant, and his autonomy is reduced, but even if daily life remains complicated and out of touch with the "normal" world, he is also a young man with charm, intense moments of communication, even if non-verbal, a great adaptability and pleasure to live.