By Esther, Champ 1 Gene Mutation, United States, February 7, 2018
Our daughter was diagnosed with Champ 1 Mutation January 2015, after 12 years of searching for a diagnosis. Our community of Champs seems to be growing with over 30+ cases worldwide. Some of the characteristics of the mutation are global developmental delay, intellectual disability, and dysmorphic facial features. Some additional characteristics they may have: Hypotonia, Microcephaly, severe speech impairment, short statue, may have seizures, congenital abnormalities. But the primary characteristics are intellectual disability and severe speech impairment. (And some say “inappropriate laughter”) Our daughter Bethany is 14 years old. She is non-verbal and in diapers. She is a freshman in highschool. She has a very pleasant personality, happy and very loving. We hope to raise awareness of Champ 1 gene mutation!