RIVER'S STORY

River is a joyful little boy, born at 38 weeks in Stillwater, Oklahoma. He was a healthy newborn and the only concern at the time was failing his newborn hearing tests. Around 3 months old, he was eventually admitted to the hospital for weight loss and feeding difficulties.  

 

At the hospital he was diagnosed with failure to thrive, bi-lateral sensorineural hearing loss, and global developmental delays. Months later, in May of 2020, genetic results unveiled that River has a mutation on his HUWE1 gene. 

 

River is the happiest boy you will ever meet. He is nonverbal, although he yells to express himself. Rivers laugh and smile are contagious. He loves playing Pat-A-Cake and Peekaboo, reading books, and watching Mickey Mouse and CocoMelon.

 

River relies on his G-Tube for nutrition and he wears hearing devices. His cochlear implant was placed in October 2021. He is currently working on walking and holding his water cup independently.

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Born: 2019

Diagnosed: 2020

Variant type: X-linked recessive inheritance

Clinical features: small stature, hypotonia, global developmental delays, plagiocephaly, nonverbal, autistic symptoms (not officially diagnosed), strabismus, nystagmus, farsightedness, feeding difficulties, gastrostomy tube, cochlear implant, bi-lateral sensorineural hearing loss, growth hormone deficiency.

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River's Mom also supports the charitable non-profit - Louie's Huwe - for people like River with HUWE1-related genetic conditions.