16p11.2 Duplication Story #4
By: Parent of a 16 year old with a 16p11.2 duplication
“Keep up with the research and share as much as possible. Join Simon’s Searchlight FB group.”
What is your family like?
Family of 7 of which 3 are sibling adopted children.
What do you do for fun?
Family games, camping and road trips, swimming, movies.
Tell us about the biggest hardship you face.
Middle adopted son has 16p11.2 duplication. He came to us at age 3.5. He is now 16 years old, 5′ 11″ and 120 lbs. No seizures. He has struggles with cognitive and mild physical deficits. This all on top of neglect and abuse before he came to us. He has spent most of his teenage years in RTC’s and now has a criminal record.
What motivates you to participate in research? How has participating in research been helpful for you?
Anything to help our son and researchers and families in the future.
How do you feel you are helping Simons Searchlight learn more about rare genetic changes?
Helping by updating information, talking with researchers and just by being in the research group.
What is one question you wish researchers could answer about this genetic change?
How many other severe cases of mental disability and cognitive deficits are out there?
If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?
Keep up with the research and share as much as possible. Join Simon’s Searchlight FB group.