Ilona’s Story

By: Farhad, Parent of Ilona, a 5 year old with a PACS1 genetic change

“We can complain rose bushes have thorns, or rejoice that thorn bushes have roses.”

What does your family do for fun?

We go for walks, we paint, we sing, we dance, we watch funny shows.

Tell us about the biggest hardship your family faces.

Planning for when we (the parents) are gone.

What about your child puts a smile on your face?

Her voice, her laugh, the way she sings

What motivates you to participate in research?

Hope that one day she will be independent enough to take care of herself and interact with friends.

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)?

Simons Searchlight gives rare patients an unified voice!

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

They have a lot in common, more with each other than with biological siblings. Individual personalities still shine through once you get to know them.

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

“We can complain rose bushes have thorns, or rejoice that thorn bushes have roses.”

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

Can cognitive abilities be improved with medication?