GRIN2A Story #1

By: Megan, Parent of a 2 year old with a GRIN2A genetic change

“It’s ok to feel whatever you are feeling at that time. If anything I felt a sense of closure.”

What is your child’s relationship like with his/her siblings?

She has a younger sister and she loves and adores her!

What does your family do for fun?

We love to have play dates with friends and love the zoo!

Tell us about the biggest hardship your family faces.

The biggest hardship is there isn’t a lot of information about our daughter’s rare genetic disorder GRIN2A.

What about your child puts a smile on your face?

Everything!!! She smiles all the time!

What motivates you to participate in research?

Trying to find more answers for her and others.

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)?

We are hoping to help others understand this journey from our story.

What have you learned about your child’s condition from other families?

That many of these patients have epilepsy. Our daughter at this point hasn’t had this happen.

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 ok to feel whatever you are feeling at that time. If anything I felt a sense of closure. Something we had been searching for for two years allowed us to know after questioning our own gut feelings there really was something that wasn’t right. We have learned the best thing to do is to reach out to others and help them too!

What is one question you wish researchers could answer about your child’s genetic change?

What can we do to prepare for the future and help her in the classroom and in life.

Is there anything else you would like to share with other families?

We are here to help!