For five years, every specialist had a name for one symptom. Nobody had a name for our son. Then DLL1 arrived — and so did a community.
A founding family · United States
For families and clinicians navigating NEDBAS, SCDO7, and 6q27 deletions — three faces of a single gene at the end of chromosome 6 that shapes how the brain and spine are built.
Families and clinicians touching DLL1 live on every continent. Each diagnosed family adds to a clearer picture — and to the leverage we need for natural-history studies, registries, and one day, treatments.
For five years, every specialist had a name for one symptom. Nobody had a name for our son. Then DLL1 arrived — and so did a community.
When the genetic counsellor said the variant was 'uncertain', we thought we were back at the start. The DLL1 community is what told us we were not.
A diagnosis is the beginning of a map, not the end of a search.