TBR1 Story #1

By: Katie, Parent of a 3 year old with a TBR1 genetic change

“Take it one day at a time. I have learned that thinking too much and too far isn’t helpful.”

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

Only child.

What does your family do for fun?

Take walks, watch movies and visit with family.

Tell us about the biggest hardship your family faces.

Having a lot of people not understand her being nonverbal. Places not being accommodating.

What about your child puts a smile on your face?

How happy she is. Her laugh when she plays peek a boo. How she lights up any room she is in.

What motivates you to participate in research?

So more families have more to go on. When we got our diagnosis we didn’t get much to go on.

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)?

I hope that we are able to help gather more information for families like us.

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

Not much really. There isn’t much related to TBR1 that I have been able to find.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Take it one day at a time. I have learned that thinking too much and too far isn’t helpful.

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

Why it happens.

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

That even what you have to go on, things aren’t always set in stone.