John’s Story

John is 12 years old and lives in Houston, Texas. He was diagnosed with a SETBP1 mutation at the age of 9, after nearly a decade of searching for a reason for his myriad of challenges. As an infant,  he was noted to have hypotonia and by 18 months, he was diagnosed with severe apraxia of speech. He walked independently at 18 months and began to put sentences together at age 3, though he was still very difficult to understand. After many years of aggressive speech therapy, we are thrilled that his apraxia is mostly resolved. Some skills, like singing, are still a work in progress, but we have come a very long way from fearing that he might never be able to effectively communicate verbally. Currently, his main challenge is academic. School remains a struggle and is further complicated by severe ADHD, for which he takes medication. He reads fairly well but struggles with math. He started middle school this year and participates in both special education as well as modified general education classes.

He is a very happy guy and enjoys soccer, horseback riding, snow skiing and cheering for the Houston Astros. Basically, John has not met a sport that he does not like. He still has some coordination challenges that make competitive athletics a bit stressful, but we have found non-competitive leagues as well as our local chapter of the Special Olympics which he enjoys immensely. These activities give him confidence and he has formed many good friendships through his participation.

John and his parents were fortunate to be able to travel to Pennsylvania last summer to participate in the Million Dollar Bike Ride and to meet other families affected by SETBP1 differences. We are so grateful for our SETBP1 community and are excited to continue working together to further our understanding of this disorder and to eventually find therapeutic interventions that make a real difference.
– Erin