William is a friendly, personable young man who loves to be outside. He is currently in his junior year of HS. When William was 15 months old and not walking independently, his pediatrician put in a referral to physical therapy. PT saw him and braces were ordered with the expectations that he should be walking in “no time.” When braces did not help, our journey to specialists began.After many tests, William was diagnosed with a genetic condition called Spinocerebellar ataxia type 8 (SCA). This explained his coordination issues across all areas – gross motor activities (like walking), fine motor activities (like writing) and speech. William had major orthopedic surgery on his lower extremities when he was 12 years old. Some of his bones had grown slightly twisted and were not straight making walking difficult.The diagnosis of SCA 8 however did not explain the cognitive delays that were becoming more apparent with each passing year. It would be another 11 years after his SCA 8 diagnoses before a wonderful neurologist took it upon himself to figure out what else was going on with William. William was diagnosed with Glucose transporter 1 deficiency (GLUT 1). A rare genetic condition where the body is not able to effectively transport glucose across the blood brain barrier. This basically means William’s body was not able to give his brain the food it needed to function.
William makes the best of each day. He enjoys hanging out with his friends, visiting with family, learning skills at his new job and playing with his 8 siblings, especially outdoors.
Welcome to the SFH family William!
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