Nova (2022)
CACNA1E c.572_580del (p.Ala191_Arg193del)
Meet Nova, my courageous 2-year-old whose bright spirit shines despite the challenges she faces.
Nova was diagnosed earlier in 2024 after suffering multiple seizures and being hospitalized for extreme fatigue/confusion lasting over 16 hours afterwards.
At times, this can impact her daily life. Her journey is a testament to resilience and adaptability, as she navigates a world where seizures can strike at any
moment.