Violetta
Born April 18, 2018 · Diagnosed with KCNQ2-Related Disorder March 12, 2019
The Beginning
She was born on April 18, 2018. Hours later, the seizures started. She was in ICU for 60 days as the doctors tried various drugs to control her seizures. We eventually controlled the seizures with Keppra and Phenobarbital. It took us a year to finally get the genetic report for ourselves and her doctors to understand what was the cause of the seizures. We learned that she had KCNQ2-Related Disorder (variant c.974 G>T). Violehealth is our commitment to turn this diagnosis into a cure.
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
May 2018
December 2018
April 2019
July 2020
August 2022
October 2024