By: Antje, Parent of “R”, a 16 year old with a distal 16p11.2 Deletion
“The grass does not grow faster if you pull it. Keep cool with your child, they will reach all milestones in her own time”
What is your child’s relationship like with his/her siblings?
What does your family do for fun?
play something together, bowling, billards, trips
Tell us about the biggest hardship your family faces.
Unclear medical findings
What about your child puts a smile on your face?
When she is driven to her boyfriend, eating chips, telephone with her boyfriend
What motivates you to participate in research?
That disability is better investigated
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 it helps
What have you learned about your child’s condition from other families?
For the moment other families learn from us, because my child is older than the others, but I see a lot of similarity
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Congratulations. You now have an answer to your question as to why the child is as they are
What is one question you wish researchers could answer about your child’s genetic change?
Why the gastroeosophagial reflux is so difficult to treat, after two surgeries we has now after 4 y problems once again
Is there anything else you would like to share with other families?
The grass does not grow faster if you pull it. Keep cool with your child, they will reach all milestones in her own time