Della’s Story

By: Caitlin, Parent of Della, a 9 year old with an ASXL3 gene mutation

“Please reach out for help when you need it. No one has to do this alone.”

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

Extremely loving and close.

What does your family do for fun?

Listen to music, spontaneous dance parties, endless joking, and reading.

Tell us about the biggest hardship your family faces.

Financial issues and planning for the future are the biggest hardships that our family is facing.

What about your child puts a smile on your face?

Just about everything she does is adorable! I’m not exaggerating. From the way she eats popcorn to how she hides under the covers when she doesn’t want to wake up to the look on her face when she does something naughty; our family can’t get enough.

What motivates you to participate in research?

The desire to help other families. I want to help create the information that I wish was available for us.

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)?

Hopefully I am adding to the overall amount of information about the ASXL3 gene. I also try and encourage other families to participate.

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

That there are more similarities than differences in our children. There is strength in numbers and meeting new families has helped us to feel less alone.

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

Please reach out for help when you need it. No one has to do this alone.

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

What is her life expectancy?

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

Never give up!