GRIN2A Story #2
By: Matt, Parent of a child with a GRIN2A genetic change
“Don’t give up and don’t feel any guilt. Allow this to strengthen your bond with your child if possible.”
What is your child’s relationship like with his/her siblings?
Quite good. They are a real support to her.
What does your family do for fun?
Sports, short, simple vacations, church activities.
Tell us about the biggest hardship your family faces.
We are a blended family, so sometimes we face difficulties due to this feature of our family.
What about your child puts a smile on your face?
Playing anything Disney.
What motivates you to participate in research?
My child just recently got identified through genetic testing with a mutation on GRIN2A. She suffers from general intellectual delay, poor motor planning, autistic-like tendencies, poor understanding of conversation and a lack of ability to make spontaneous and original conversation.
What have you learned about your child’s condition from other families?
Not much yet. This is all so new to us, but we have discovered that this condition presents itself in a spectrum of ways.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Don’t give up and don’t feel any guilt. Allow this to strengthen your bond with your child if possible.
What is one question you wish researchers could answer about your child’s genetic change?
Is there any hope in sight for treatment to mitigate or even reverse the impact of this mutation?
Is there anything else you would like to share with other families?
Would be happy to discuss experiences.