By: Kate, Parent of Ryleigh, a 9 year old with a 16p11.2 duplication
“Take every day minute by minute. Learn many things are out of your control. Do what you can and don’t sweat the small stuff.”
What is your child’s relationship like with his/her siblings?
They have a typical sibling relationship. But they really do love one another. Her big sister can calm her down in ways I can’t.
What does your family do for fun?
Movies, hikes, vacations, family outings
Tell us about the biggest hardship your family faces.
The uncertainty of this disorder. Helping our child get the best possible education for her.
What about your child puts a smile on your face?
Her willingness to love everyone. She is so sweet she melts our hearts daily. She has such an infectious zest for the way she views the world.
What motivates you to participate in research?
Help others and find others that are facing and living with this disorder.
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)?
Providing valuable information. Giving this disorder examples that can be studied.
What have you learned about your child’s condition from other families?
It seems that none are the same. Just as the name states they are all UNIQUE.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Take every day minute by minute. Learn many things are out of your control. Do what you can and don’t sweat the small stuff.
What is one question you wish researchers could answer about your child’s genetic change?
How to help her learn to the best of her ability.
Is there anything else you would like to share with other families?
It is a daily struggle. There are the greatest of days and the worst. In the end it is all worth it. She has helped us all to see we are stronger than we think we are. She helps us see the world through her eyes and it is beautiful.