Xander’s Story

By: Kayla, Parent of Xander, an 18 month old with a 16p11.2 Deletion

“Be patient. You never know exactly what’s going to happen with your child, only time will tell a lot of the time.”

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

They play very well together. Our older daughter likes to baby our son who has the deletion.

What does your family do for fun?

We go to the park or local splash pad. Both kids love to play outside.

Tell us about the biggest hardship your family faces.

Trying to balance both kids and work life. It’s hard in general, but when you have a child who has special needs and is spending weeks at a time every few months in the hospital, it’s hard to make sure you’re balancing everything evenly.

What about your child puts a smile on your face?

He has an amazing personality. He’s very bubbly most of the time and his laugh could light up a whole room.

What motivates you to participate in research?

We’ve been at a loss. No one really has a lot of information about what is going on with our son. He has involuntary breath holding spells on top of his genetic disorder and has recently developed a seizure disorder. A few months ago they found an abnormality on his brain and no one has told us what that is. We’ve switched drs and hospitals and are just looking for some answers.

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)?

My son is very young and could be monitored and studied as he grows to better understand what happens with these kids as they age.

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

Nothing. I don’t know any other families whose kids have the same diagnoses. I had never heard of the disorder until my son was diagnosed.

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. You never know exactly what’s going to happen with your child, only time will tell a lot of the time.

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

Just what is going on with him. He’s started to have seizures and it hasn’t really been explained to us why. His new neurologist doesn’t think it’s caused by his disorder and thinks it may be due to an abnormality on his MRI