Lexi’s Story
By: Rebecca, Parent of Lexi, a 12 year old with a PACS1 genetic change
“You are your child’s voice & you know your child better than anyone knows their condition.”
What is your child’s relationship like with his/her siblings?
Everything is on her terms so dependent on her mood, although she has a fantastic relationship with her new sister (10 weeks old).
What does your family do for fun?
Parks, bowling, swimming. We love film nights in the house.
What about your child puts a smile on your face?
Her infectious laugh & smile, Her determination to achieve anything she tries & her quirky mannerisms.
What motivates you to participate in research?
To help understand my daughters condition but also to help others understand it too
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)?
By looking at all the children individually a bigger understanding of our condition will hopefully be achieved.
What have you learned about your child’s condition from other families?
That all our children are very similar in lots of ways.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Research as much as possible….you are your child’s voice & you know your child better than anyone knows their condition.
What is one question you wish researchers could answer about your child’s genetic change?
What does the future hold for her?