A Mother's Note

Our son, Owen, is our ray of sunshine. He has three sisters, including a twin sister named Alice. He is so silly and just lights up a room.

When he was three years old, he started to withdraw, take longer to learn words, and struggle to hold a pencil in school. He was soon diagnosed with autism, and later genetic sequencing found a mutation in his ITSN1 gene.

ITSN1 helps brain cells communicate, but very little else is known about the gene and how it causes disease. We were determined to help Owen and looked for answers everywhere. After months and years of reading papers and emailing researchers, we discovered Dr. Ryan Dhindsa at Texas Children's Duncan Neurological Research Institute, who had just published a paper about ITSN1 and was studying the gene.

Now, we are working with Dr. Dhindsa and his team to dive deeper into ITSN1 and find new treatment strategies that could help not just Owen but all kids like him. We've also formed a growing community of families diagnosed with mutations in ITSN1.

If you or your family is affected by ITSN1, you're not alone. Our goal is to help families understand what ITSN1 is, connect with ongoing research, and build a supportive community. It's our hope that by sharing our stories, we can all find strength and encouragement.

— Jennifer, Owen's mom