MED13L Story #2
By: the parent of a child with a MED13L genetic change
“Read through the stories of other families but know that no two MED13L children are the same.”
What is your child’s relationship like with his/her siblings?
The only time my daughter “comes alive” is when she’s around her brothers!
What does your family do for fun?
We love traveling and hitting the museums. We’re also really in to music.
Tell us about the biggest hardship your family faces.
The potential future for our daughter. It will impact my sons the most after my husband and I are gone.
What about your child puts a smile on your face?
She giggles all of the time and her laugh is infectious!
What motivates you to participate in research?
Helping others and hopefully bringing awareness to fund therapy.
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)?
I wish there were active studies we could participate in.
What have you learned about your child’s condition from other families?
That the future is uncertain and that we need to inundate our child with as much love and therapy as possible.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Read through the stories of other families but know that no two MED13L children are the same.
What is one question you wish researchers could answer about your child’s genetic change?
How close to typical or how far away from typical will she be?