Libi
- Location
- Haifa, Israel
- Age
- 7 months old
- Variant
- De novo variant in IRF2BPL
Libi was born in late 2025. At three weeks old, she had her first seizure. At two months, trio whole-exome sequencing gave us an answer: NEDAMSS — a rare neurological disorder caused by a de novo early-truncating variant in the IRF2BPL gene.
Libi's variant is among the earliest truncating variants reported in this gene. The known global community remains very small, which means every family connection and every research conversation matters.
Today, Libi is seizure-free on medication. She smiles, makes eye contact, vocalizes, and receives physiotherapy. She is loved beyond measure — and she has given us a mission: to learn everything we can about IRF2BPL, connect families around the world, and push the research forward, for her and for every child who follows.
