By: Debra, Parent of Ashleigh, a 27 year old with a 16p11.2 Deletion
“Patience with your child. Don’t compare them to your friends children or your other children. They’re never going to catch up if you have the expectation that they should be like children of normal intellect.”
What is your child’s relationship like with his/her siblings?
Good, pretty close family.
What does your family do for fun?
Family bbqs, movie nights
What about your child puts a smile on your face?
Her loving caring nature. She makes us all laugh without even trying.
What motivates you to participate in research?
Helping others and gets awareness out there.
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)?
With my daughter now being 27 (born 1991) and only getting diagnosed 18 months ago I hope you can help earlier detection.
What have you learned about your child’s condition from other families?
Nothing. I had to deal with every missed milestone, speech delays, physical impairments, hospital visits, and specialist appointments from birth – 26yrs alone without a diagnosis.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Patience with your child. Don’t compare them to your friends children or your other children. They’re never going to catch up if you have the expectation that they should be like children of normal intellect.
What is one question you wish researchers could answer about your child’s genetic change?
Are there any links to 16p11.2 deletion and reproductive abnormalities?? My daughter also has vaginal and cervical atresia.
Is there anything else you would like to share with other families?
I have 5 adult children. Only 1 with 16p, I think we are given children with special needs to teach us patience. Love them and create a beautiful life for your child.