By: Melanie, Parent of Aliana, a 4 year old with a SYNGAP1 genetic change
“Ask and ask questions until you feel comfortable with all you have done.”
What is your child’s relationship like with his/her siblings?
What does your family do for fun?
Swim, movies, parks, bowling, bike riding, playing with our farm animals, playing Nintendo switch, picnics, games
Tell us about the biggest hardship your family faces.
All the different special needs and the blended family. And the behaviors of each individual child.
What about your child puts a smile on your face?
How sweet she is. And how she goes with the flow. And when she masters a new skill.
What motivates you to participate in research?
Finding more information on my kids.
What have you learned about your child’s condition from other families?
I found out that most kids with SYNGAP1 have epilepsy. And I pushed to have our daughter tested. And she has absent seizures
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Ask and ask questions until you feel comfortable with all you have done.
What is one question you wish researchers could answer about your child’s genetic change?
Can she learn to talk?