GRIN2B Story #1

By: Rachel, Parent of a 4 year old with a GRIN2B genetic change

“Don’t give up on your child. A diagnosis is only a fraction of who your child is and will be.”

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

Since she is 15 years younger, she is pampered with lots of snuggles, horse back rides and stuffed animals from her old siblings.

What does your family do for fun?

Travel and spend time with family.

Tell us about the biggest hardship your family faces.

We are currently struggling over the decision of a private school where she will be mainstreamed vs a public school special education classroom.

What about your child puts a smile on your face?

She is always smiling! My parents claim that they have never seen her sad or crying. This is basically accurate.

What motivates you to participate in research?

Based on my research, my daughter has a very mild case. I want to show people that this diagnosis is not a life sentence.

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)?

My husband and I are both very smart people and we have very intellectual conversations at the dinner table with our older 3 children. Our daughter has grown up with lots of physical therapy, occupational therapy and speech therapy since she was 3 months old. She is doing exceptionally well. I believe that genetics are only the nature side of the equation. I want to teach the benefits of “nurture.”

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

She was just diagnosed last month. I haven’t met any other families coping with this condition.

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 on your child. A diagnosis is only a fraction of who your child is and will be.

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

How can we insert the missing pieces to make her chromosomes whole?