Marvin’s Story

By: Amy, Parent of Marvin, an 11 year old with a KMT2E genetic change

“Embrace being unique.”

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

My son is the oldest of our two adopted children.

What does your family do for fun?

We love to go to King’s Dominion, the science museum, read, and watch movies.

Tell us about the biggest hardship your family faces.

My youngest daughter is in hospice at this time.

What about your child puts a smile on your face?

His sense of humor.

What motivates you to participate in research?

I’m hopeful we can help other families.

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 we are bringing awareness to KMT2E.

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

That we have many similarities.

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

Embrace being unique.

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