Through My Eyes

Program: RHOBTB2

Connor’s Story:

From the time Connor was a newborn, his family began noticing subtle yet unusual behaviors. He would often turn his head to the right side and seem to get “stuck” in that position for several minutes. As first-time parents, they didn’t realize these episodes were actually seizures. The reality of Connor’s condition became clear after his first major seizure, which happened shortly after his four-month vaccinations. That night, he spiked a fever and began having a prolonged tonic-clonic seizure that lasted over 20 minutes—a terrifying experience that felt like an eternity for his family.

Determined to find answers, they pursued an MRI, EEG, and extensive bloodwork. As they waited for results, they began noticing more of Connor’s tonic seizures and a series of involuntary movements that appeared seizure-like, though later doctors would rule them out as such. During this time, Connor’s developmental milestones began to slow. He stopped reaching for new skills, from rolling over to pulling up, crawling, and walking. His early babbling, once frequent and joyful, began to fade until he barely made a sound.

After many tests and consultations, Connor was finally diagnosed with a rare genetic mutation, RHOBTB2 (c.1532G>A(p.Arg511Gln)), a condition that affects only a small number of people worldwide. This mutation is known to cause neurological symptoms, including developmental delays, epilepsy, and movement disorders. Children with this mutation often experience tonic seizures, muscle stiffness, and other involuntary movements. Developmental milestones are typically significantly delayed, with many children struggling with motor skills, speech, and communication. Connor’s own symptoms—his seizures, movement difficulties, and delayed milestones—fit this profile, providing clarity on his unique needs and how best to support him.

Despite these hurdles, Connor’s spirit shines brightly. He has a few quirks that bring joy to those around him: a love for bright, colorful toys and a fascination with sensory activities, like playing with his piggy bank and opening different toys and objects. Simple joys bring him happiness, and his family finds that moments spent listening to his favorite Baby Shark music or engaging in playful interaction are some of his most cherished times. His laughter is infectious, and he has an uncanny ability to surprise his family with moments of insight and connection, reminding them of his resilience and strength.

Connor’s family continues to support him in every way possible, providing him with love, patience, and the specialized care he needs. They hold onto hope that ongoing research will lead to advancements that could improve his quality of life. His journey, though challenging, is marked by the unwavering support of his family and the dedication of a skilled medical team and therapists, all working together to help him lead a fulfilling, joyful life.