The story of Alan
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 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! We founded BCAP31.org to help other families connect with each other as we navigate life with this ultra-rare disease.