“Your girls are a mystery.” Not the words a parent wants to hear from a neurologist.  Our girls, now ages 8 and 10, have never developed “typically.”  As infants and toddlers, IF they hit a milestone it was extremely late.  One is pre verbal, one none verbal, both have epilepsy, both have some physical challenges and both have intellectual delays.  Our life has been filled with physical therapy, occupational therapy, speech therapy, medical appointments and EEGs for 9+ years.  

Once our younger daughter had her first seizure at 2, our medical team knew we were dealing with something genetic.  At this point, genetic testing had not found any abnormalities. At ages 5 and 7, which was 6 years after our first round of genetic testing, we got our answer.  Both of our girls have a Rare Genetic Disorder called Syngap1.  This gene is responsible for developing a protein in your brain, their gene did not finish writing.  On the day of diagnosis, January 2, 2018 our girls were 2 of 250 in the WORLD.  As of today there are about 600 known diagnosed in the world.  

There are no cures or treatments for Syngap1.  Researching this genetic condition is going to be imperative to learn more about how it works and the best way to treat it.  While we are thrilled to have our answer as to why our children have medical and developmental challenges, we would love to have more answers!

— Erin Poirier

Lily and Elise Poirier

Living with Syngap1