Jack’s Story

By: Janet, Parent of Jack, a 5 year old with a SLC6A1 genetic change

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

Jack loves his brother and sisters! He is the baby of the family, so they all just adore him!

What does your family do for fun?

We are a busy family and we are involved in sports and lots of school activities.

Tell us about the biggest hardship your family faces.

Our biggest hardship is probably the uncertainty of it all. We worry about Jack and what his future will be like.

What about your child puts a smile on your face?

Jack is very loving and absolutely hilarious! He has the best sense of humor and quite an imagination.

What motivates you to participate in research?

I want Jack to have the best future possible! We will do whatever it takes to help him live his best life.

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 think that participating in this research study will not only bring more understanding to Jack’s disorder, but also help children in the future. I think that by Jack participating it will help scientists see and understand the differences and similarities in the children that have the disorder.

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

I have learned that this disorder is really on a spectrum. We all have so many things in common, but also so many differences.

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

To breathe!! Also remember, that your child is the same wonderful person they were before you received your diagnosis. Information is power and learning all you can will help everyone! Advocate for your child!!

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

How will it alter his future?

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

Our kids are wonderful!! Keep learning, keep fighting, and keep advocating!