By: Erica, Parent of Lincoln, a 6 year old with a MED13L genetic change
“One day at a time, some days and weeks there will be little progress and then they will amaze you. You won’t take little milestones for granted.”
What is your child’s relationship like with his/her siblings?
He loves them, they play and fight like typical siblings
What does your family do for fun?
Swim, vacation, garden, play outside, go to anything that involves Lincolns love of cars and vehicles.
Tell us about the biggest hardship your family faces.
Communication and food issues. We have made progress with both through speech and feeding therapy.
What about your child puts a smile on your face?
He has a big personality and is loving and friendly.
What motivates you to participate in research?
Helping other kids in the future with similar genetic situations.
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)?
Good, hope we can be of future help.
What have you learned about your child’s condition from other families?
A lot of similarities, the spectrum can be extremes, things to possibly look for in future.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
One day at a time, some days and weeks there will be little progress and then they will amaze you. You won’t take little milestones for granted.