Our son Jonah, is an energetic, engaging 12-year old with broad developmental challenges. After a long odyssey trying to understand the reason behind his developmental and behavioral challenges, visiting with many doctors and specialists along the way, we finally received a diagnosis when he was 8 years old. Whole-genome sequencing revealed that he has a point mutation in the FOXP1 gene. FOXP1 is a suspected autism-related gene.
As an infant, Jonah was very ‘colicky’ and had very low muscle tone. With physical therapy he sat on his own at 10 months and walked at 21 months. As he got older, it became clear that he had fine-motor and speech delays, as well as moderate intellectual disability. It also became clear that he had autistic-like features such as repetitive behaviors, narrow interests/obsessions, dislike of change or routine, and sensory issues. Other challenging behavior issues such as hyperactivity, impulsivity, inability to focus (ADHD) as well as anxiety also emerged and continue to pose our greatest challenges today. Although his social development is not ‘normal’ he is very engaged with people, so does not have a formal diagnosis of autism. We have struggled to find medications to help with his behavior issues. Jonah continues to progress at his own pace and is doing well in school. He spends most of his time in a special needs class and gets support to participate in some mainstream classes. He continues to receive speech and occupational therapy at school. Outside of school, Jonah enjoys going to therapeutic horseriding lessons.
After Jonah's diagnosis of a FOXP1 mutation, we were glad to finally have an answer to explain Jonah's many issues, but were disappointed to discover that not much was known about FOXP1 in other patients. There were only a handful of cases reported in the literature, so we really didn't have any more knowledge about Jonah's prognosis. Since we both have backgrounds in science, we did as much reading as we could to learn about FOXP1. That is how we became aware of the researchers at the Seaver Autism Center. We also started an online community through RareConnect to find other families affected by FOXP1 gene issues. To date, over 30 families with affected children from around the world have joined the RareConnect FOXP1 community. This online community has provided an opportunity for families to share and learn from each other. A few families have been able to meet each other.
We knew that the Seaver Autism Center had experience in studying children with other single-gene changes and we connected with them to see if they could do the same for FOXP1. In March 2016, we visited with the team for an in-depth, extensive set of evaluations that have helped us understand Jonah's current capabilities and additional strategies for helping him succeed in school and life. We remain actively engaged with the team at the Seaver, promoting their research to the wider FOXP1 community. Our shared goal is to characterize the syndrome, understand how it might change as the children develop, and most importantly to understand what techniques or therapies can help our children reach their highest potential. We are very grateful to the Seaver team for their efforts in advancing the understanding of FOXP1 so that the many families with affected children can have more knowledge and guidance to help them raise their unique children.
- The Whitney Family