Meet Elin!

A Little Girl With a Mighty Spirit 

Elin is a strong girl who has been overcoming challenges since before she was born. During her 18-week anatomy scan, doctors discovered an arachnoid cyst in the right hemisphere of her brain. A fetal MRI later revealed cortical dysplasia and dysgenesis of the corpus callosum, conditions that placed her at a high risk for epilepsy. 

At just 12 days old, Elin was admitted to Nicklaus Children’s Hospital for extended seizure monitoring. After five days, doctors discovered she was experiencing multiple subclinical seizures each hour, some lasting as long as 12 minutes. She began treatment with phenobarbital and Keppra at only two weeks old. 

Genetic testing later revealed a rare de novo mutation in the GABRB1 gene. Elin is one of only a small number of documented individuals with this mutation and epilepsy. Her epilepsy is refractory, meaning she continues to experience seizures despite multiple medications. 

Despite these challenges, Elin is undergoing physical therapy through Early Steps to support her development. Her family is committed to giving her every opportunity to thrive. She is surrounded by love and a family who celebrates every milestone!