KDM5B Story #1
By: Kristi, Parent of a 12 year old with a KDM5B genetic change
“Participate in research and journal everything about your child.”
What is your child’s relationship like with his/her siblings?
Typical, they fight like cats and dogs. Yet, they protect each other fiercely.
What does your family do for fun?
We enjoy traveling, history, theater, concerts, attending sporting events and playing card and board games.
Tell us about the biggest hardship your family faces.
Both kids are adopted. Our oldest has high functioning autism with a lot of phobias and anxiety. She limits our time outside. Our 12 year old son has the KDM5B genetic change. He has anxiety and a short temper. He also has dyscalculia and dysgraphia, as well as several food allergies. His behavior can limit and cut short our outings.
What about your child puts a smile on your face?
Both kids have a tender heart. When they willingly give up something of their own to help someone less fortunate. Or, when they think up and execute random acts of kindness, makes me smile every time.
What motivates you to participate in research?
I’d love to find out more information about this genetic difference. What is this doing to my kid? What can we do to help him? What can we do to help others? Only research can answer these questions. If I don’t participate, who will?
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)?
My son’s genetic change is different than Simons Searchlight (Q359X). However, more knowledge of this gene can only be helpful.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Participate in research and journal everything about your child.
What is one question you wish researchers could answer about your child’s genetic change?
What symptoms does my child have that are caused by this gene?