Sara’s Story

By: Barbara, Parent of Sara, a 17 year old with a 16p11.2 duplication

“Don’t give up. Keep researching to find ways to deal with future issues that may arise”

What is your child’s relationship like with his/her siblings?

They get along most of the time

What does your family do for fun?

Go to the movies

Tell us about the biggest hardship your family faces.

My 17 year old daughter had two scoliosis surgeries and for two years started having neurological symptoms. We went to several doctors and just recently she has been diagnosed with 16p11.2 duplication also ptsd, depression anxiety disorder and panic attacks. I just got my 19 year old son with aspergers to graduate from high school and now in college. It has been difficult but I am still pushing through.

What about your child puts a smile on your face?

Now that we have a diagnosis, she is much more happier.

What motivates you to participate in research?

To learn more about the rare genetic disorder and how her future will look like

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 feel that by my daughters unusual symptoms at an older age, the resrarchers can learn more

What have you learned about your child’s condition from other families?

Not too much yet.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Don’t give up. Keep researching to find ways to deal with future issues that may arise

What is one question you wish researchers could answer about your child’s genetic change?

Why there is no cure.