Abigail’s Story

By: Susan, Parent of Abigail, a 17 year old with a 16p11.2 Deletion

“Stay positive, don’t lose hope. There will be answers to all this in the end.”

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

Well she doesn’t see her sister much because she is 22 and lives her own life. BUT when they do see each other they act silly and laugh as long as the older one doesn’t get mad about something.

What does your family do for fun?

We swim, go to the movies, go to my mom and dad’s place, take the dog for a walk, or just hang out at home.

Tell us about the biggest hardship your family faces.

The BIGGEST hardship we face is financially. I am a single mom caring for my daughter all by myself. I can not really hold down a job because we are ALWAYS at a doctor’s visit.

What about your child puts a smile on your face?

Oh that is easy. Her smile, her laughter, & the biggest is the fact that she is still ALIVE and here with me today.

What motivates you to participate in research?

Well I am willing to do research because if it gives just one person some answers that they otherwise would not have had, I have done my job.

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 my daughter is impact the studies GREATLY. She has so many rare issues that it is sometimes a challenge to her doctors.

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

Not met any other families as of yet.

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

Stay positive, don’t lose hope. There will be answers to all this in the end.

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

How did this happen and how likely that my daughters kids will have it?