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LOUIE'S STORY

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.

Born: 12/2012

Diagnosed: 2014

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.

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©2024 by HUWE1.org. Please note that HUWE1.org provides this information for the benefit of people affected by HUWE1 gene variants. HUWE1.org is not a medical provider or health care facility and can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individual medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.

HUWE1.org supports the US charitable nonprofit organization Louie's HUWE (EIN: 86-1930096).
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