Amie’s Story

By: Dawn, Parent of Amie, a 14 year old with a 16p11.2 Deletion

“Ask questions, pay attention to symptoms, don’t always take the first answer if it doesn’t feel right.”

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

Amie is adopted and is 20 years younger than her two brothers. The youngest of the brothers is autistic spectrum and she does not appreciate him much. The older one spoils her and she enjoys the attention.

What does your family do for fun?

Travel when we can, chill out whenever possible!

Tell us about the biggest hardship your family faces.

Amie’s primary issues are her heart (she’s looking at her fourth open heart next month) & the behaviors that make it difficult to make meaningful relationships.

What about your child puts a smile on your face?

She is fun, quirky, interested in being liked and always sees things from a different perspective. She does not care whether her clothes match, but if it has some pink it in, it’s perfect!

What motivates you to participate in research?

Understanding the deletion, as well as assisting with improvements for others like Amie.

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)?

Amie has been with Simons since not long after she was diagnosed. I have learned from other families along the way & believe that our information has helped others as well.

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

I didn’t appreciate that the gazing into space was seizures. It was because of other families talking about it, that we requested a neuro consult and had an EEG which showed multiple absent seizures happening constantly.

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

Ask questions, pay attention to symptoms, don’t always take the first answer if it doesn’t feel right (we dealt with that as we tried to determine the sleep issues that she has).

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

The immunity thing, in my opinion is stronger than we’ve been able to identify through the research.

Is there anything else you would like to share with other families?

Hang in there, the behaviors do improve with age. She’s 14 now (2019). We do have meltdowns still, but they are much better controlled (yes she’s on medication) & she’s better able to verbalize her stressors. It’s not perfect, but it’s better. Reach out to others for help when needed, it’s ok to ask for help!