By: Laura, mom of Samuel, a 2 year old with a 16p11.2 duplication
“Do not let others including family make you feel bad in any way. You are your kids best advocate and you know them better than anyone else.”
What is your child’s relationship like with his/her siblings?
What does your family do for fun?
Play family games, family movie night. We go to the mall or to the park.
Tell us about the biggest hardship your family faces.
Our youngest son and I both have the same genetic disorder 16p11.2 duplication, my son has two rare genetic disorders, my wife also has a genetic disorder but completely different than my son and I.
What about your child puts a smile on your face?
What motivates you to participate in research?
I grew up not knowing I had a genetic disorder. There we’re signs but no one knew, I don’t want the same for my son and I want others to have a diagnosis and have information.
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)?
By participating in all research opportunities.
What have you learned about your child’s condition from other families?
That its OK or that it will get better.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Do not let others including family make you feel bad in any way. You are your kids best advocate and you know them better than anyone else.
What is one question you wish researchers could answer about your child’s genetic change?
Memory loss. Learning to do something then forgetting.
Is there anything else you would like to share with other families?
We are all here to support each other!