KMT5B Story #1

By:  Parent of 10 year old with a KMT5B genetic change

“It’s not easy to figure out but keep pushing.”

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

Very close.

What does your family do for fun?

Movies, travel, museums, concerts.

What about your child puts a smile on your face?

When she is happy and making progress.

What motivates you to participate in research?

My daughter has KMT5B gene.

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 daughter has KMT5B gene.

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

To not give up on helping your child. It’s not easy to figure out but keep pushing.

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

I would love to know more symptoms related to KMT5B

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

I’m open to share our experience.