Daniel’s Story

By: Joann, Parent of Daniel, a 13 year old with a HIVEP2 genetic change

“There is hope! Our son has done very well with years of therapy, acceptance and love. Yours can too!”

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

Very good overall. He loves and relies on the help and guidance of his sister.

What does your family do for fun?

Go to NYC, hike, go to Ocean City, NJ.

Tell us about the biggest hardship your family faces.

Financial, mom stopped working and now lives far from NYC where her jobs were. No consistent help for/with kids.

What about your child puts a smile on your face?

The way he sees the world and how sweet he is and his interest in others.

What motivates you to participate in research?

I believe genes and science are the key to so much and want to be part of it.

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)?

We have had Danny nearly 13 years. He was diagnosed at 2 with autism. This new diagnosis of HIVEP2 will help us in understanding his development and others like him.

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

So far, that many of his challenges (motor skills, speech, ADHD) are common.

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

There is hope! Our son has done very well with years of therapy, acceptance and love. Yours can too!

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

What medications can help and is there any way to improve cognitive function/motor skills beyond therapy?

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

We look forward to continuing this journey with others in our corner!