Louie is a happy 8 year old who lives near Washington DC. He enjoys anything symmetrical, especially if it is transparent. He is nonverbal, but currently learning to sign and has had much success at Johns Hopkins in Baltimore.
Variant type: de novo
Clinical features: short stature, severe learning disability, autism level 3, strabismus, cortical visual impairment, g-tube, hypotonia, and epilepsy.
With the help of medical and genetic experts, Louie's parents have founded a new 501c3 charitable nonprofit in 2021 - Louie's Huwe - to support children like Louie around the world.