Danielle S.
From the very beginning, we knew our daughter’s journey would be different. As a baby, we noticed developmental delays—infantile spasms, excessive blinking, and hand flapping that we later learned were forms of stimming. Doctors initially told us she would grow out of it. We kept asking, sensing something deeper was going on.
When we finally saw a neurologist, we were told again these behaviors were just stimming and she’d outgrow them. But something didn’t sit right with us. We pushed for an EEG, which came back abnormal.
As she grew, her seizures became more frequent, along with dizziness and sensitivity to overstimulation from a variety of triggers. There were times she’d get dizzy for hours, throwing up and needing to sleep to recover. Her symptoms progressed and affected many parts of her life.
After persistent research and many questions, genetic testing revealed a diagnosis: a rare mutation in the CACNA1A gene, specifically the p.G677R variant. Finally, we had a name for what she’s facing.
Because this condition is so rare, we’re still learning every day about how to help her, what treatments might work, and how to support her best. Our hope is to raise awareness, connect with others, and inspire strength through her journey—one that truly makes her a warrior.
From the very beginning, we knew our daughter’s journey would be different. As a baby, we noticed developmental delays—infantile spasms, excessive blinking, and hand flapping that we later learned were forms of stimming. Doctors initially told us she would grow out of it. We kept asking, sensing something deeper was going on.
When we finally saw a neurologist, we were told again these behaviors were just stimming and she’d outgrow them. But something didn’t sit right with us. We pushed for an EEG, which came back abnormal.
As she grew, her seizures became more frequent, along with dizziness and sensitivity to overstimulation from a variety of triggers. There were times she’d get dizzy for hours, throwing up and needing to sleep to recover. Her symptoms progressed and affected many parts of her life.
The battle to finally find what was wrong was long and exhausting—with countless visits to doctors and specialists who struggled to understand her rare condition. Genetic testing eventually revealed she has 100 percent of the genetic variation identified, pinpointing a rare mutation in the CACNA1A gene, specifically the p.G677R variant. This diagnosis, though a relief, also highlighted just how little is known about her disorder.
Her weak muscle tone meant she needed many therapies throughout her life—physical, occupational, and speech—to help her grow stronger and improve her abilities. We often face challenges obtaining necessary treatments and support because many people remain unaware of her rare genetic disorder and its complex symptoms.
Despite all these hurdles, our daughter’s resilience shines through. Every day, she fights like a true warrior. Our hope is to raise awareness, connect with others facing similar journeys, and inspire strength through her story—proof that even in the toughest battles, hope and courage endure.
August 2026 Update:
Danielle’s medical service dog in training, Frankie, continues to make incredible progress. From the very beginning, the bond between them has been truly special. Frankie is completely devoted to Danielle and is always by her side, offering comfort, reassurance, and unconditional love.
He has become an important source of confidence for Danielle, especially during times of anxiety or stress. His calming presence helps her feel more secure and supported as she navigates daily life. Frankie seems to naturally recognize when she needs extra comfort, and his attachment to her makes their connection even more meaningful.
Right now, Frankie and Danielle are working on scent training, an exciting next step in his service-dog journey. With patience, consistency, and the strong relationship they already share, Frankie is growing into an amazing companion and future medical service dog.
