Elly’s Story

Our third child, Elly was born perfect in every way with no known issues at birth. At five months, she developed atypical movement in her eyes and appeared behind on developmental milestones. Over several weeks of hospital stays and testing, we learned Elly was presenting with infantile spasms, focal seizures, and developmental delays.

After an extensive panel of genetic tests, we received Elly’s diagnosis: a mutation leading to an early truncation in the IRF2BPL gene, known to cause a neurodevelopmental disease called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures).  This is an ultra-rare condition with less than 150 diagnosed cases worldwide.

There is currently no cure or readily available treatment for this disease, and resources for advancing medical efforts are limited. Our hope is to expand research, develop and test several treatments, obtain FDA approval, and ultimately experience medical breakthroughs which will lead to a change in the disease outcome for Elly and the other kids affected by this devastating disease. This is a multimillion-dollar endeavor. Please help us by joining Elly’s Team!