Guide for families
A NEDAMSS / IRF2BPL diagnosis — what now?
We are Libi's parents. We wrote this page for the next family who hears the word NEDAMSS from their doctor, or opens a genetic report and sees IRF2BPL. The most important thing first: you are not alone. There are other children in Israel, and you can talk to us.
What NEDAMSS / IRF2BPL is
NEDAMSS is the clinical name of the syndrome — short for its typical features: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. The biological cause is a variant in a gene called IRF2BPL — that is the name that usually appears on the genetic report. When there is a pathogenic variant in this gene, it can disrupt how the gene functions and affect how a child's brain develops. It looks different in every child.
Is it inherited?
In most documented cases worldwide, the variant is de novo — meaning it appeared for the first time in the child and was not inherited from the parents. That can be a meaningful relief for parents who fear they did something wrong. You didn't.
How rare is this?
Very rare. The known global community remains small and continues to grow as more children are diagnosed through genetic testing. We know of four families in Israel. Every new family that joins matters — for them and for the research.
You are not first, and there is someone to talk to
If you are parents who have just received a diagnosis — fill in the form below and we'll get back to you. We are not doctors; we are other parents who have walked this path, and we're glad to talk.
The form takes about a minute. We'll get back to you within a few days.
What we are not
We are not a medical team. We don't provide diagnoses — only genetic testing, interpreted by qualified clinicians, can do that. We don't provide treatment, and there is currently no approved, broadly available treatment for NEDAMSS. We are parents who have walked this path and are glad to help connect you onward.