Mia’s Story

By: Holly, Parent of Mia, a 5 year old with a ACTL6B genetic change

“You are not alone.”

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

Our older daughter who is five has a mutation in ACTL6b. She has two 10 month old identical twin brothers. She mostly watches them play.

What does your family do for fun?

Mostly do activities at home.

Tell us about the biggest hardship your family faces.

Our daughter’s inability to walk and freely get around. The older she gets, the harder it gets to move her around, bath her etc.

What about your child puts a smile on your face?

Her smile.

What motivates you to participate in research?

Hoping they may give this mutation a human disease name so it is recognized.

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)?

If you are interested in her medical conditions impacted by her mutation it may help others.

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

At least you now understand why your child is the way they are. Now you can look forward to helping them be all they can be.

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

What does my child’s future look like?

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

You are not alone.