By: Andrea, Parent Vicky, a 13 year old with an ACTL6B genetic change
“You are not alone. Let’s share and work together on this.”
What is your child’s relationship like with his/her siblings?
Vicky likes it when her brother plays taking away and giving back toys, stuffed animals and pillows. She loves crunchy paper and music. She adores water. She does not like loud noises nor anything new or unknown.
What does your family do for fun?
The main activity we can do together is play in the swimming pool.
Tell us about the biggest hardship your family faces.
We have a 13 year old daughter diagnosed two weeks ago with an ACTL6B gene change that caused a terrible growth delay. Vicky walks with difficulty. She has no language. She has a gastronomy button. Uses diapers. Requires 24 hour assistance.
What about your child puts a smile on your face?
Her face! Her smile. When she claps and yells to let me know she is happy.
What motivates you to participate in research?
I’d give my life for her. I would do anything to cure her. My 11 year old son motivates me to search for a cure.
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 believe we should share experiences and see what is similar…during pregnancy during childbirth…finding out what we have in common will help doctors with their research
What have you learned about your child’s condition from other families?
I am surprised to know about another boy that does not need medication.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
You are not alone. Let’s share and work together on this.
What is one question you wish researchers could answer about your child’s genetic change?
Even though I understand the magic pill has not been invented yet, I would like to know if they believe a muted gene could somehow mute or change into a healthy gene.
Is there anything else you would like to share with other families?
I have everything to share.