PPP2R5D Story #1
By: the parent of a 1 year old with a PPP2R5D genetic change
“Every child is unique. Every child is different. Every child has their story.”
What does your family do for fun?
In the summer time we like to go boating and camping. She is only 1 now, so I’m hoping she will start to love these things.
Tell us about the biggest hardship your family faces.
I would have to say, not knowing what to expect because she is so young. And when people start to ask why she isn’t crawling yet or walking.
What about your child puts a smile on your face?
She laughs at fart noises or things dropping. She has this nervous laugh when she hears these things, it’s so cute.
What motivates you to participate in research?
To help future families!
What have you learned about your child’s condition from other families?
That every child is unique. Every child is different. Every child has their story.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
It’s not your fault!
What is one question you wish researchers could answer about your child’s genetic change?
How is it linked to autism and cancer?