Seth’s Story

By: Daniel, Parent of Seth, a 3 year old with a 16p11.2 microdeletion

“Love your child, one small piece of change doesn’t change them.”

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

Seth depends on his twin sister, he always likes to know where she is. He did not engage with her for 2 years, he is socially challenged, his sister will torment him but Seth’s understanding is not there but he adores her so much. They both love each other and do share wonderful cuddles together occasionally.

What does your family do for fun?

Walks in the woods, outdoor adventures, space where Seth can run around and be safe. Messy play is a must!

Tell us about the biggest hardship your family faces.

Seth’s behavior impacting on every day life from getting dressed to going out for the day, sometime we have to split the family so Seth’s twin doesn’t lose out.

What about your child puts a smile on your face?

The sporadic cuddles he give when he wants, as normally he doesn’t like being held or touched.

What motivates you to participate in research?

To get an understanding of Seth’s rare condition and how we can help settle other family’s more scared than us.

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 are very lost on the medical world, we hope you can bring some light to our search for answers or some resolution to help us and others.

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

We don’t know or have not contacted another family with the same condition as Seth yet.

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

It will be OK.

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

Will there ever be a way to alter or change the missing parts of DNA in the future?

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

Love your child, one small piece of change doesn’t change them.