By: the parent of Gracie, a 3 year old with a 16p11.2 Deletion
“Look for Facebook groups to join and reach out to other families. It’s been great to have that camaraderie!”
What is your child’s relationship like with his/her siblings?
She is very close to her siblings and loves them! Her sister is her very best friend. They play house all the time together.
What does your family do for fun?
Go on trips, go to the park, play outside, go to concerts or plays, and enjoy time with our immediate and extended families.
Tell us about the biggest hardship your family faces.
In regards to the deletion? I would say as a family we don’t face any hardships because of it. She has quite a gross motor delay and she herself would probably say that is her greatest hardship.
What about your child puts a smile on your face?
She is very funny and keeps us laughing always!
What motivates you to participate in research?
To help my child and other children who have this deletion.
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 hope by adding our child’s story that we can provide another puzzle piece into the mystery of 16p11.2 deletion.
What have you learned about your child’s condition from other families?
That is definitely has a huge variation based on the individual child and what category/group your child’s deletion falls.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
If your child is young or an infant, don’t think that all hope is lost. I thought our daughter would never walk. She didn’t put any weight on her legs until 17 months! She is now running and jumping all over the place at 3
What is one question you wish researchers could answer about your child’s genetic change?
I would love if there was every day where they could find a way to replace the missing genes.
Is there anything else you would like to share with other families?
Look for Facebook groups to join and reach out to other families. It’s been great to have that camaraderie!