Iris’ Story

By: Parent of Iris, a 5 year old with a 1q21.1 Deletion

“You’re family member is still the same person they were yesterday. Nothing changes.”

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

She’s a lot younger than her siblings, but they seem to have a loving relationship. Unfortunately her siblings are old enough that they worry about her when things go wrong.

What does your family do for fun?

We like to be silly, joke around, attend holiday and school functions, and play outside.

Tell us about the biggest hardship your family faces.

We struggle financially and struggle to have positive relationships with the kids’ fathers.

What about your child puts a smile on your face?

She’s very kind hearted.

What motivates you to participate in research?

We would like to make it easier for families diagnosed in the future to get information and know what to expect.

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)?

My daughter has even more complications than are considered typical, so hopefully we’re contributing to further understanding of possible complications.

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

That there is a wide variation in presentation of the deletion.

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

You’re family member is still the same person they were yesterday. Nothing changes.