Alan presented 'failure to thrive' symptoms starting at 2 months old, which started a yearlong odyssey to determine the cause of his compounding developmental delays. He was diagnosed with BCAP31-related disorder after completing whole exome sequence genetic testing at 16-months old (May 2020). He presents with all of the features of the DDCH phenotype commonly associated with BCAP31 disorders (deafness, dystonia and cerebral hypomyelination). He received cochlear implants in September 2020 and uses total a communication approach: spoken language and American Sign Language for receptive communication; ASL and an augmentative communication device (LAMP Words for Life) for expressive communication. He uses a wheelchair, which he primarily maneuvers himself and practices standing and walking with the use of a gait trainer. While he is able to eat some solid foods, his low muscle tone has made it difficult to eat at a pace that allows him to gain weight along a typical growth curve so he received a gastrostomy tube (G-tube) for supplementation and hydration in April 2023. He especially loves eating cookies, waffles and cheeseburgers! 

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After staying at home through most of the pandemic, Alan started attending a preschool with typically developing children in August 2022 where he has thrived! He has a very calm, curious and engaged temperament and loves being around other people, especially other kids. He receives both push-in and pull-out therapies while at preschool, including physical therapy, occupational therapy, speech therapy, and support from a deaf/hard of hearing education specialist. Alan adores his older sister, loves to play with water/sand/materials at the sensory table, read books, and engage in silly games of all kinds!