Tyler’s Story

By: Amanda, Parent of Tyler, a 4 year old with a 16p11.2 Deletion

“Be patient, it is not always an easy journey but the whole time it is wonderful, even with the hardships there is beauty, especially when your child meets milestones that you thought they’d never meet. Also, stay consistent, never give up and try not to give in. I have found that my son needs complete structure as well as a firm push to accomplish his goals.”

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

My oldest son is his favorite person and my youngest is his best friend but they fight like cats and dogs.

What does your family do for fun?

We like to go on family outings such as the beach, park, bike rides, and shopping.

Tell us about the biggest hardship your family faces.

Sleep and Speech issues, not only in Tyler but my youngest, he waited to say some words because he was mimicking Tyler’s speech.

What about your child puts a smile on your face?

Everything! He is such a character! He loves to make everyone laugh and he tries so hard to speak that he makes us so proud.

What motivates you to participate in research?

To help other families learn and understand what’s going on with their child as well as learning more about what might come for mine.

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 knowing what goes on in our day to day lives with my 16p11.2 child helps you learn more about this diagnosis and it will further your understanding in how to disseminate information down to families as well as care providers on what to look for and how to go about treating these children.

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

I have learned many things. I have learned that a lot of kids start really blossoming in the speech area around 5, but there is no guarantee, I have learned that potty training is a difficult time, even more so for our children, also I’ve learned that there are plenty of services out there to help and which ones are better.

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

Be patient, it is not always an easy journey but the whole time it is wonderful, even with the hardships there is beauty, especially when your child meets milestones that you thought they’d never meet. Also, stay consistent, never give up and try not to give in. I have found that my son needs complete structure as well as a firm push to accomplish his goals.

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

Are you working towards a goal of making this easier on families? Easier to recieve services? Easier to identify the problems sooner? Making genetic testing available to people getting screened for things such as autism?

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

If I could make it easier for my son I would. I would never want to change him just make it easier on him. We’ve had frustrations from this diagnosis and lots of testing done that has taken him away from just being a kid. Other than that he is the most loving, caring, and funniest child I’ve ever been around. I would say to look past the diagnosis and see the person they really are.