After a typically healthy pregnancy, Elizabeth was born at 37 weeks in coastal Virginia. She was diagnosed with severe hypotonia and developmental delays at 5 months old which began the search for an underlying condition. She was diagnosed with her HUWE1 variant in 2020, right before her first birthday.
Elizabeth is nonverbal with a very easy going temperament. She enjoys listening to music, playing with her two dogs, and working hard at physical therapy. She is currently working to sit independently. Elizabeth's biggest challenge is by far her poorly controlled epilepsy.
Variant type: de novo
Clinical features: small stature, hypotonia, global developmental delays, nonverbal, delayed visual development, strabismus, nystagmus, farsightedness, white matter brain abnormality, intestinal malrotation (correction surgery performed in 2021), feeding difficulties, gastrostomy tube, ketogenic diet, intractable complex partial epilepsy
Elizabeth's mother is a founding board member of Louie's Huwe, a charitable non-profit to support children like Elizabeth who are affected by HUWE1-related genetic conditions.