June 2018 Family Spotlight: “Roller Coaster Ride of a Lifetime”
June 1, 2018 By Erin Poirier
Lily and Elise Poirier are 2 of the 300 known SYNGAP cases worldwide. They are only the second known case of non-twin siblings. Since being discovered in 2009, SYNGAP is widely underdiagnosed due to not being included on standard genetic screenings and the cost of the whole exome sequencing that usually uncovers the mutation.
Under the care of Children’s Hospital, the Poirier family worked for 7 years before discovering the SYNGAP mutation in both girls.We are the Poiriers and we have two girls with SYNGAP1.
Our daughter’s names are Lily age 7 and Elise age 5, Our journey began when we realized Lily was not developing “typically” so we started early intervention. It has been quite the roller coaster since… she was diagnosed with epilepsy at age 2.5 and Elise had just been born. While we navigated the special needs world with our toddler, we quickly realized our new infant was not developing typically either. It felt like Groundhog day, we started therapy with early intervention and she was diagnosed with epilepsy at age 2.5, just like her sister. Our weeks are filled with a wonderful public school education and therapy along with additional PT, OT and speech. Both girls LOVE to swim and have a happy and loving demeanor. Communication skills are building daily but sometimes the lack of causes some frustration. Despite daily challenges our girls bring us so much hope and joy! Our diagnosis day was January 2, 2018. We were ecstatic to have a answer to our “why?”
We started noticing around 9 months that Lily was not keeping up with her peers. All of her milestones, including eating, were significantly delayed. She finally walked independently at 2½ years old and was diagnosed with epilepsy shortly after that. Lily is now a non-verbal and determined 8-year-old who is full of energy. In addition to therapy at school, Lily has physical therapy, occupational therapy, and social skills class after school. She wears leg braces to help with her unsteady gait. Lily loves to swim, read books, and take family bike rides.
Elise was not hitting any of her milestones and seemed to be following in her big sister’s footsteps. She was diagnosed with epilepsy and learned to walk at age 2½, so knew we were dealing with something familiar. Elise is now a pre-verbal 5-year-old with a bubbly personality and a heart of gold. In addition to therapy at school, Elise has speech therapy and social class after school. She still has a handful of seizures each week while we are trying to balance her medicine. Elise loves to play with other kids, swim, take family bike rides, and blow bubbles.