By: Connie, Parent of Riley, a 7 year old with an STXBP1 genetic change
“Our children are obviously not like most but the journey we are on is filled with such love and compassion it truely makes you a better person.”
What is your child’s relationship like with his/her siblings?
Riley loves his Big Brothers
What does your family do for fun?
Riley enjoys time out and about socializing, we sing and he adores anything that moves, or makes noise like the garbage truck and motor bikes.
Tell us about the biggest hardship your family faces.
Being a single parent with limited help from family and isolation when it comes to Riley being included or safe in normal environments
What about your child puts a smile on your face?
His smile and laughter. Always happy and inquisitive. His singing and pure innocence. He does not feel hate or greed or jealousy he is just happy to be him.
What motivates you to participate in research?
The possibility of helping my son further and help others like us.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
Hopefully we are contributing in ways to benefit us all.
What have you learned about your child’s condition from other families?
Nothing, I am yet to find a child like Riley.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Our children are obviously not like most but the journey we are on is filled with such love and compassion it truely makes you a better person.
What is one question you wish researchers could answer about your child’s genetic change?
How do we correct this to give him control of his life?