Violetta
Born [DATE] · Diagnosed with KCNQ2-Related Disorder [DATE]
The Beginning
She was born on [DATE]. Six days later, the seizures started — tiny tremors that turned into something terrifying. By the time we had a name for it — KCNQ2-Related Disorder, variant c.974 G>T — we had also made a decision: we were going to do something about it. Violehealth is that decision.
The Diagnosis
The genetic report arrived with a string of letters and numbers that would reshape our family's life. Behind the clinical language was our daughter — and a mechanism we would spend the next years trying to understand and change.
VARIANT ANALYSIS REPORT
DE NOVO / PATHOGENIC
Next-Gen Sequencing (NGS)
✓ CLINICALLY VERIFIED
Gene
KCNQ2
Variant
c.974 G>T (p.R325M)
Zygosity
Heterozygous
Inheritance
De Novo
Classification
Pathogenic
Violetta's variant has not yet been formally published — a direct research gap Violehealth exists to close.
What It Means
Violetta's variant changes a single building block — the arginine at position 325 — in a protein that acts as a brake on overactive neurons. That position sits in the exact spot where the channel is normally unlocked. With it disrupted, the brake fails.
Why Violehealth
We named this foundation after her because every child like her deserves a world that fights back.
Violetta in Photos
