Martin is our youngest child, born in 2015, a beautiful, seemingly healthy boy. After a few months, we noticed an unusual development in him, hypotonia, strabismus. He started walking at the age of two, he doesn’t speak much, he uses a few words. He is a happy child, we love him very much, we support him in his development. He likes animals, especially cats, rides a bike well, is always in motion. Doctors could not diagnose him for a long time until this year, when he was seven years old, geneticists discovered MED13L. This is new information for us, but it does not change the fact that he is our wonderful boy.