Our daughter, Gwendolyn, is a bright, joyful 7-month-old who has already faced more challenges than most will in a lifetime.
On April 16th, 2025, just one day shy of turning 2 months old, Gwen experienced her first seizure — a grand mal (tonic-clonic) seizure. This was the day our world changed. What followed were hospital visits, tests, and eventually the discovery of a de novo KCNA2 mutation (c.1220C>T, p.Pro407Leu), a rare genetic cause of epilepsy.
Her treatment journey began with Keppra, which unfortunately did not help. Phenobarbital was then added and brought partial control, but it required high doses and caused heavy side effects. The real breakthrough came when Gwen started Oxcarbazepine (Trileptal) in the mix. This medication gave her seizure control for over two months, marking a huge milestone for her and for our family.
On September 14th, 2025. Gwen experienced her first absence seizures while awake — different from her typical sleep-related episodes. One of these events caused her oxygen to drop, and she was admitted to the hospital. Around the same time, our family was also beginning to get sick, which we didn’t realize at first. Illness is known to lower seizure thresholds, and this may have contributed to her breakthrough seizures that day.
In addition to her epilepsy journey, Gwen is also being monitored for her vision. Structurally, her eyes are healthy, and her ophthalmologist confirmed she does not have cortical visual impairment (CVI). She is working on strengthening her vision through alternating use of an eye patch, and while surgery may be needed in the future, her progress and engagement with the world around her are very encouraging.
Despite all of this, Gwen is thriving. She is an excellent nurser, loves rolling around the house, grabbing her feet, and playing with her siblings. She is very much the talker as well. She is currently in physical therapy and making amazing progress toward her milestones. Her laughter, determination, and light inspire everyone who meets her.
Gwen’s story is still being written, but she has already taught us about resilience, hope, and the power of awareness. We share her journey in the hope of connecting with other KCNA2 families and supporting research that will one day lead to better treatments — and brighter futures — for children like her.