By: Julie, Parent of Laura, a 23 year old with a MED13L genetic change
“Take pleasure in your child’s achievements no matter how small they me be.”
What does your family do for fun?
Swim, walk, shop
Tell us about the biggest hardship your family faces.
Getting dietary advice and help with Laura’s food compulsion and weight management
What about your child puts a smile on your face?
Discos, being with her friends at college and youth club
What motivates you to participate in research?
To help professionals and parents have a better understanding of the syndrome
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)?
Providing information about traits/symptoms of a MED13L child
What have you learned about your child’s condition from other families?
That many children are similar to my daughter especially hypertonia, high pain threshold and self injury
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Go with your instincts regarding parenting – the professionals don’t have all the answers.
What is one question you wish researchers could answer about your child’s genetic change?
If it is possible to alter the deletion in order to change metabolism
Is there anything else you would like to share with other families?
Take pleasure in your child’s achievements no matter how small they me be.