Axel’s Story

By: Erin, Parent of Axel, a 7 year old with a rare genetic change

“Love them for who they are and know that it is a gift!”

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

They are close.

What does your family do for fun?

We like to be outside and moving.

Tell us about the biggest hardship your family faces.

That we want Axel to be as independent as possible.

What about your child puts a smile on your face?

Music and laughter

What motivates you to participate in research?

To find ways/tools to support my child.

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

That what we see with Axel is typical for his development

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

Love them for who they are and know that it is a gift!

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

Is he in pain or does he have pain?