Connor’s Story

By: Kathleen, Parent of Connor, an 11 year old with a SYNGAP1 genetic change

“We need to stick together to push for treatment and research.”

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

Connor has two half sisters that he has never met.

What does your family do for fun?

We go to the beach, walks in the park, picnics and swimming. We also like to go to concerts.

Tell us about the biggest hardship your family faces.

Connor is aggressive and has been since he was 3 years old. He is almost 12 years old now and the aggression and outbursts make it very difficult to go out in public and to participate in activities with other people. So isolation is really a big factor.

What about your child puts a smile on your face?

He is innocent…he didn’t ask for his issues and difficulties. He is affectionate, silly and always up for a joke or a laugh. He is also an exceptionally beautiful child. Because of his low muscle tone, he has a certain way of pronoucing words and I find it so incredibly cute. He also loves to sing. His laugh is my favorite sound.

What motivates you to participate in research?

If there is anything out there that can help Connor to lead a happier, healthier life, I want to find it now. His childhood was lost to seizures and suffering and there has to be meaning to his 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 am not sure I am making any impact at all yet!

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

I have learned that gene mutations cause certain characteristics that seem to be universal.

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

I would say to get the seizures under control, first and foremost. Be aggressive, don’t be frightened of the medications. The most important thing you can do is to save your loved one’s brain. The physical stuff, the speech, etc., etc., can come later.

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

How can we treat my son to “over ride” his genetic mutation(s)?

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

We need to stick together to push for treatment and research.